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
CLEC4A_chr12_8118617_8143607	8135047	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	19	0.0526	22	c.299 others(37): Show c.299-537_299-516dupTTTTTTTTTTTTTTTTTTTTTT	CLEC4A	ENSG00000111729.15	transcript	ENST00000229332.12	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
CLEC4G_chr19_7723957_7737110	7732902	A A	AATATATA others(15): Show AATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	427	0.0023	22	c.-80 others(31): Show c.-801_-800insATATATATATATATATATATAT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		793		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 NA18969.hp1 HG01517.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	51	0.0392	22	c.-80 others(31): Show c.-805_-804insATATATATATATTTTTTTTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19087.hp2 NA19054.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	51	0.0392	22	c.-80 others(31): Show c.-805_-804insATATATATATATATATTTTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	50	0.0200	22	c.-80 others(31): Show c.-805_-804insATATATATATATATATATTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0008 a0001c0004t0001g0008	1	50	0.0200	22	c.-80 others(31): Show c.-805_-804insATATATATATATATATATATTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7736483	T T	TCCTTCCT others(15): Show TCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	430	0.0023	22	c.-43 others(33): Show c.-4382_-4381insGGAAGGAAGGAAGGAAGGAAGG	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		4374		chr19	TogoVar
CLEC6A_chr12_8450962_8483330	8472994	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02109.hp1 others(2): Show HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010	a0001c0001t0002g0019 a0001c0001t0002g0108 a0001c0001t0006g0036 others(1): Show a0001c0001t0002g0019 a0001c0001t0002g0108 a0001c0001t0006g0036 a0001c0001t0010g0019	5	280	0.0179	22	c.370 others(39): Show c.370-3112_370-3111insTTTTTTTTTTTTTTTTTTTTTT	CLEC6A	ENSG00000205846.4	transcript	ENST00000382073.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
CLHC1_chr2_55167547_55237293	55217552	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0153 a0002c0001t0005g0153	1	248	0.0040	22	c.365 others(37): Show c.365+237_365+258dupATATATATATATATATATATAT	CLHC1	ENSG00000162994.16	transcript	ENST00000401408.6	protein_coding	4/12			chr2	TogoVar
CLIC2_chrX_155271211_155339614	155297860	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	233	0.0043	22	c.293 others(37): Show c.293+903_293+924dupTTTTTTTTTTTTTTTTTTTTTT	CLIC2	ENSG00000155962.13	transcript	ENST00000369449.7	protein_coding	3/5			chrX	TogoVar
CLIC2_chrX_155271211_155339614	155297884	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19084.hp1 NA18747.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0099 a0001c0001t0001g0052 a0001c0001t0001g0099	2	109	0.0183	22	c.293 others(37): Show c.293+900_293+901insCTTTTTTTTTTTTTTTTTTTTT	CLIC2	ENSG00000155962.13	transcript	ENST00000369449.7	protein_coding	3/5			chrX	TogoVar
CLIC4_chr1_24740447_24849321	24775175	T T	TTTTTTTC others(15): Show TTTTTTTCTAGCTACCGTGAAGA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	342	0.0029	22	c.73- others(39): Show c.73-22562_73-22541dupTTCTAGCTACCGTGAAGATTTT	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC4_chr1_24740447_24849321	24820067	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01261.hp1 HG01516.hp1 others(2): Show HG00738.hp2 HG01261.hp1 HG01516.hp1 HG01981.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0280 a0001c0001t0001g0305 others(2): Show a0001c0001t0001g0272 a0001c0001t0001g0280 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0325	5	179	0.0279	22	c.308 others(39): Show c.308+5849_308+5850insGTATATATATATATATATATAT	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC4_chr1_24740447_24849321	24820067	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG01258.hp1 others(5): Show HG01081.hp1 HG01109.hp2 HG01258.hp1 HG02698.hp1 HG02965.hp1 HG03710.hp2 NA18947.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0050 others(5): Show a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0269 a0001c0001t0001g0310 a0001c0001t0016g0088	8	182	0.0440	22	c.308 others(39): Show c.308+5849_308+5850insGTGTATATATATATATATATAT	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC4_chr1_24740447_24849321	24820067	G G	GTGTGTAT others(15): Show GTGTGTATATATATGTATATATA	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	175	0.0057	22	c.308 others(39): Show c.308+5849_308+5850insGTGTATATATATGTATATATAT	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC5_chr6_45893456_46020860	45958441	T T	TATATACA others(15): Show TATATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01109.hp1 HG01358.hp1 others(1): Show HG00408.hp1 HG01109.hp1 HG01358.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0128 a0001c0001t0002g0191 a0001c0001t0003g0184 others(1): Show a0001c0001t0002g0128 a0001c0001t0002g0191 a0001c0001t0003g0184 a0001c0001t0005g0145	4	305	0.0131	22	c.64- others(37): Show c.64-3198_64-3197insGTGTGTGTGTGTGTGTGTATAT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC5_chr6_45893456_46020860	45958443	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03130.hp1 NA20129.hp2 HG02630.hp1 HG03130.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0007g0255 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0007g0255	3	206	0.0146	22	c.64- others(37): Show c.64-3200_64-3199insGTGTGTGTGTGTGTGTGTGTGT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC5_chr6_45893456_46020860	45958443	T T	TATACACA others(15): Show TATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0330 a0001c0001t0002g0330	1	204	0.0049	22	c.64- others(37): Show c.64-3200_64-3199insGTGTGTGTGTGTGTGTGTGTAT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC6_chr21_34663994_34723223	34707437	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp2 HG03516.hp2 HG02559.hp2 HG02922.hp2 HG03516.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0025 a0001c0011t0058 a0001c0011t0025 a0001c0011t0058	a0001c0011t0025g0241 a0001c0011t0025g0243 a0001c0011t0058g0242 a0001c0011t0025g0241 a0001c0011t0025g0243 a0001c0011t0058g0242	3	116	0.0259	22	c.148 others(37): Show c.1484+60_1484+81dupACACACACACACACACACACAC	CLIC6	ENSG00000159212.13	transcript	ENST00000349499.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CLIC6_chr21_34663994_34723223	34716862	T T	TCTCTCTA others(15): Show TCTCTCTATCACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0048 a0004c0006t0048	a0004c0006t0048g0245 a0004c0006t0048g0245	1	163	0.0061	22	c.38 others(31): Show c.381_*382insTCTCTATCACACACACACACAC	CLIC6	ENSG00000159212.13	transcript	ENST00000349499.3	protein_coding	6/6	382	INFO_REALIGN_3_PRIME	chr21	TogoVar
CLIC6_chr21_34663994_34723223	34716862	T T	TCTCTCTC others(15): Show TCTCTCTCTATCACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0076 a0004c0029t0076	a0004c0029t0076g0039 a0004c0029t0076g0039	1	163	0.0061	22	c.38 others(31): Show c.381_*382insTCTCTCTATCACACACACACAC	CLIC6	ENSG00000159212.13	transcript	ENST00000349499.3	protein_coding	6/6	382	INFO_REALIGN_3_PRIME	chr21	TogoVar
CLIC6_chr21_34663994_34723223	34716863	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG01891.hp2 HG02647.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0030 a0002c0009t0030	a0002c0009t0030g0050 a0002c0009t0030g0052 a0002c0009t0030g0050 a0002c0009t0030g0052	2	308	0.0065	22	c.38 others(31): Show c.381_*382insTCTCTCTCTCTCTCTCTCTCTA	CLIC6	ENSG00000159212.13	transcript	ENST00000349499.3	protein_coding	6/6	382		chr21	TogoVar
CLIP1_chr12_122266469_122427669	122276382	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp2 NA18906.hp1 HG02280.hp2 HG02622.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0006 a0001c0010t0004 a0001c0001t0006 a0001c0010t0004	a0001c0001t0006g0221 a0001c0001t0006g0227 a0001c0010t0004g0009 a0001c0001t0006g0221 a0001c0001t0006g0227 a0001c0010t0004g0009	3	96	0.0313	22	c.396 others(41): Show c.3966+1750_3966+1771dupTGTGTGTGTGTGTGTGTGTGTG	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	24/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122293002	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0023 a0001c0001t0004g0019 a0001c0001t0004g0023	2	153	0.0131	22	c.359 others(41): Show c.3595-4462_3595-4461insTTTTTTTTTTTTTTTTTTTTTT	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	20/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122330597	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTGTTTGTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	32	0.0313	22	c.286 others(41): Show c.2868-2172_2868-2171insAAAACAAACAAAAAAAAAAAAA	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	15/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122330597	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02280.hp1 HG02717.hp1 others(5): Show HG01099.hp1 HG02280.hp1 HG02717.hp1 HG02717.hp2 HG02970.hp1 HG03098.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0001 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0006g0223 others(5): Show a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0006g0227 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0010g0219	8	39	0.2051	22	c.286 others(41): Show c.2868-2172_2868-2171insAAAAAAAACAAAAAAAAAAAAA	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	15/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122379943	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	138	0.0072	22	c.85+ others(35): Show c.85+424_85+425insTTTTTTTTTTTTTTTTTTTTTT	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	2/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122387590	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	160	0.0063	22	c.-10 others(41): Show c.-106-7033_-106-7032insAAAATATATATATATATATATA	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	1/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122393912	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0011 a0007c0008t0011	a0007c0008t0011g0226 a0007c0008t0011g0226	1	53	0.0189	22	c.-10 others(43): Show c.-106-13355_-106-13354insTTTTTTTTTTTTTTTTTTTTTT	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	1/25			chr12	TogoVar
CLMN_chr14_95176940_95324908	95319911	C C	CGGGCGCG others(15): Show CGGGCGCGGGCGGGGCGCGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0044 a0001c0002t0059g0044	1	273	0.0037	22	c.-12 others(31): Show c.-120_-119insCGCCCGCGCCCCGCCCGCGCCC	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding		4		chr14	TogoVar
CLMN_chr14_95176940_95324908	95319934	C C	CGGGCGGG others(15): Show CGGGCGGGGCGCGGGCGCGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	260	0.0038	22	c.-14 others(31): Show c.-143_-142insCGCCCGCGCCCGCGCCCCGCCC	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding		27		chr14	TogoVar
CLMP_chr11_123064872_123200248	123150444	A A	AAAGAAAG others(15): Show AAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	252	0.0040	22	c.28+ others(39): Show c.28+44468_28+44469insCTTCTTTCTTTCTTTCTTTCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLN8_chr8_1758789_1791570	1763601	G G	GCGCCCCG others(15): Show GCGCCCCGCCCCCCGCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01496.hp1 HG01993.hp2 others(10): Show HG01243.hp1 HG01496.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02145.hp2 HG02486.hp2 HG02735.hp1 HG03239.hp2 NA19054.hp2 NA19060.hp2 NA19082.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0015 a0001c0001t0025 a0001c0001t0051 a0001c0001t0052	a0001c0001t0001g0116 a0001c0001t0002g0002 a0001c0001t0002g0128 others(5): Show a0001c0001t0001g0116 a0001c0001t0002g0002 a0001c0001t0002g0128 a0001c0001t0012g0121 a0001c0001t0015g0002 a0001c0001t0025g0118 a0001c0001t0051g0046 a0001c0001t0052g0046	13	363	0.0358	22	c.-40 others(31): Show c.-408_-407insCGCCCCGCCCCCCGCCGCGCCC	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		187		chr8	TogoVar
CLN8_chr8_1758789_1791570	1763610	C C	CCCGCGCC others(15): Show CCCGCGCCCCGCCCCCCGCCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	405	0.0025	22	c.-39 others(31): Show c.-399_-398insCCGCGCCCCGCCCCCCGCCGCG	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		178		chr8	TogoVar
CLNK_chr4_10481395_10689768	10578579	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18906.hp1 NA19088.hp1 NA18612.hp1 NA18906.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0165 a0001c0001t0002g0277 a0001c0001t0011g0020 a0001c0001t0002g0165 a0001c0001t0002g0277 a0001c0001t0011g0020	3	29	0.1034	22	c.112 others(39): Show c.112+6326_112+6347dupAAAAAAAAAAAAAAAAAAAAAA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	4/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10655334	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02148.hp2 NA18970.hp1 HG01081.hp1 HG02148.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0005 a0001c0001t0020	a0001c0001t0005g0263 a0001c0001t0020g0069 a0001c0001t0020g0076 a0001c0001t0005g0263 a0001c0001t0020g0069 a0001c0001t0020g0076	3	67	0.0448	22	c.11+ others(39): Show c.11+12503_11+12524dupCTCTCTCTCTCTCTCTCTCTCT	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLOCK_chr4_55422903_55551909	55445582	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18998.hp2 NA19054.hp2 HG01361.hp1 NA18998.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0100 a0001c0001t0001g0142 a0001c0014t0001g0143 a0001c0001t0001g0100 a0001c0001t0001g0142 a0001c0014t0001g0143	3	98	0.0306	22	c.154 others(39): Show c.1540-819_1540-798dupAAAAAAAAAAAAAAAAAAAAAA	CLOCK	ENSG00000134852.15	transcript	ENST00000513440.6	protein_coding	18/22			chr4	TogoVar
CLPB_chr11_72280495_72439531	72377649	A A	AAAGGGGA others(15): Show AAAGGGGAAGGGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02109.hp1 others(9): Show HG01884.hp1 HG01884.hp2 HG02109.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 NA18906.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0001t0035 a0001c0001t0036 others(7): Show a0001c0001t0020 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0053 a0001c0001t0069 a0001c0002t0009 a0001c0002t0028 a0001c0002t0096	a0001c0001t0020g0108 a0001c0001t0020g0114 a0001c0001t0035g0153 others(9): Show a0001c0001t0020g0108 a0001c0001t0020g0114 a0001c0001t0035g0153 a0001c0001t0036g0152 a0001c0001t0037g0151 a0001c0001t0040g0150 a0001c0001t0053g0019 a0001c0001t0069g0005 a0001c0002t0009g0148 a0001c0002t0028g0100 a0001c0002t0028g0149 a0001c0002t0096g0099	12	173	0.0694	22	c.646 others(39): Show c.646+2610_646+2631dupCCCTTCCCCTTCCCTTCCCCTT	CLPB	ENSG00000162129.15	transcript	ENST00000294053.9	protein_coding	4/16			chr11	TogoVar
CLRN1_chr3_150921567_150977727	150969292	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0363 a0001c0003t0001g0363	1	388	0.0026	22	c.253 others(39): Show c.253+3142_253+3163dupATATATATATATATATATATAT	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0365 a0001c0003t0002g0365	1	294	0.0034	22	c.253 others(39): Show c.253+3142_253+3143insAATATATATATATATATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLSTN2_chr3_139930185_140582397	139953931	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	25	0.0400	22	c.109 others(41): Show c.109+18450_109+18471dupGTGTGTGTGTGTGTGTGTGTGT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	139955112	C C	CTATATAT others(15): Show CTATATATACATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	14	0.0714	22	c.109 others(41): Show c.109+19637_109+19638insCATATATATATATATATATATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	139955112	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19079.hp2 HG02572.hp2 NA19079.hp2	a0002 a0005 a0002 a0005	a0002c0004 a0005c0013 a0002c0004 a0005c0013	a0002c0004t0038 a0005c0013t0008 a0002c0004t0038 a0005c0013t0008	a0002c0004t0038g0108 a0005c0013t0008g0105 a0002c0004t0038g0108 a0005c0013t0008g0105	2	15	0.1333	22	c.109 others(41): Show c.109+19635_109+19656dupATATATATATATATATATATAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140076625	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0009 a0002c0021t0009	a0002c0021t0009g0030 a0002c0021t0009g0030	1	10	0.1000	22	c.110 others(41): Show c.110-99319_110-99298dupTTTTTTTTTTTTTTTTTTTTTT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140135117	C C	CACACACA others(15): Show CACACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	69	0.0145	22	c.110 others(41): Show c.110-40833_110-40832insCACACACACATATATATATATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140211398	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0016 a0001c0001t0029g0016	1	3	0.3333	22	c.232 others(41): Show c.232+35332_232+35353dupCACACACACACACACACACACA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140240174	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	57	0.0175	22	c.232 others(41): Show c.232+64102_232+64103insCTCTCTCTCTCTATATATATAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140240174	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0075 a0001c0003t0007g0075	1	57	0.0175	22	c.232 others(41): Show c.232+64102_232+64103insCTCTCTCTCTCTCTATATATAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140377022	C C	CACAGAGA others(15): Show CACAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	12	0.0833	22	c.233 others(41): Show c.233-26606_233-26605insCAGAGAGAGAGAGAGAGAGAGA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLTA_chr9_36185921_36217059	36216327	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00741.hp1 HG01069.hp1 others(36): Show HG00408.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01167.hp2 HG01175.hp2 HG01261.hp2 HG01516.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02723.hp1 HG02738.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03688.hp1 HG03704.hp1 NA18522.hp2 NA18612.hp2 NA18943.hp2 NA18945.hp2 NA18959.hp1 NA18966.hp1 NA18980.hp1 NA18990.hp2 NA19011.hp2 NA19063.hp2 NA19076.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0021 others(30): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0002g0170 a0001c0002t0003g0003 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0056 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0186 a0001c0002t0003g0195 a0001c0002t0003g0196	39	164	0.2378	22	c.45 others(33): Show c.4553_*4554insTGTGTGTGTGTGTGTGTGTGTG	CLTA	ENSG00000122705.18	transcript	ENST00000345519.10	protein_coding		4269		chr9	TogoVar

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