Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CARMIL1_chr6_25274374_25625530	25459242	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03209.hp2 HG02083.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0032 a0001c0001 a0001c0032	a0001c0001t0021 a0001c0032t0011 a0001c0001t0021 a0001c0032t0011	a0001c0001t0021g0163 a0001c0032t0011g0097 a0001c0001t0021g0163 a0001c0032t0011g0097	2	186	0.0108	30	c.615 others(47): Show c.615-6604_615-6603insCTTTTTCTTTCTTTCTTTCTTTCTTTCT TT		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459268	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02055.hp2 NA19007.hp2 HG00438.hp2 HG02055.hp2 NA19007.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0002c0007 a0003c0017 a0001c0006 a0002c0007 a0003c0017	a0001c0006t0002 a0002c0007t0006 a0003c0017t0007 a0001c0006t0002 a0002c0007t0006 a0003c0017t0007	a0001c0006t0002g0074 a0002c0007t0006g0091 a0003c0017t0007g0153 a0001c0006t0002g0074 a0002c0007t0006g0091 a0003c0017t0007g0153	3	186	0.0161	30	c.615 others(47): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARS2_chr13_110636417_110711116	110649931	C C	CTGTTTTT others(23): Show CTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0052 a0002c0004t0001g0052	1	372	0.0027	30	c.105 others(49): Show c.1054+1102_1054+1103insAAAAAAAAAAAAAAAAAAAAAAAAAA AACA		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14						chr13	TogoVar
CARS2_chr13_110636417_110711116	110679573	G G	GAGAAAGA others(23): Show GAGAAAGAAAGAAAGAAAGAAAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0264 a0004c0012t0002g0264	1	372	0.0027	30	c.656 others(47): Show c.656-2471_656-2470insTTCTCTCTCTTTCTTTCTTTCTTTCTTT CT		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14						chr13	TogoVar
CARS2_chr13_110636417_110711116	110679573	G G	GAGAAAGA others(23): Show GAGAAAGAAAGAAAGAAAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01167.hp1 others(5): Show HG00738.hp1 HG01069.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01496.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0072 a0001c0002t0001g0180 others(3): Show a0001c0002t0001g0004 a0001c0002t0001g0072 a0001c0002t0001g0180 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0212	8	372	0.0215	30	c.656 others(47): Show c.656-2471_656-2470insTTCTCTCTCTCTCTTTCTTTCTTTCTTT CT		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14						chr13	TogoVar
CARS2_chr13_110636417_110711116	110679573	G G	GAGAAAGA others(23): Show GAGAAAGAAAGAAAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	372	0.0027	30	c.656 others(47): Show c.656-2471_656-2470insTTCTCTCTCTCTCTCTCTTTCTTTCTTT CT		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14						chr13	TogoVar
CASKIN2_chr17_75495261_75520537	75502569	G G	GCGTCCTG others(23): Show GCGTCCTGGCCGCCGGGTAAGGGTAGCATAA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02698.hp2 HG02698.hp2	a0018 a0018	a0018c0033 a0018c0033	a0018c0033t0001 a0018c0033t0001	a0018c0033t0001g0135 a0018c0033t0001g0135	1	414	0.0024	30	c.247 others(39): Show c.2475_2504dupTTATGCTACCCTTACCCGGCGGCCAGGACG	p.Arg others(43): Show p.Arg835_Ser836insTyrAlaThrLeuThrArgArgProGlyArg	CASKIN2	ENSG00000177303.10	transcript	ENST00000321617.8	protein_coding	18/20	3045/4969	2504/3609	835/1202			chr17	TogoVar
CASK_chrX_41509934_41928554	41829696	G G	GATAGATA others(23): Show GATAGATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	164	0.0061	30	c.172 others(49): Show c.172+23418_172+23419insATATATATATATATATATATATATAT CTAT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26						chrX	TogoVar
CASP3_chr4_184622696_184654447	184624568	T T	TCCACAGC others(23): Show TCCACAGCCTCCATCACTGACCTGTTTCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0114 a0001c0001t0016g0114	1	366	0.0027	30	c.47 others(41): Show c.4703_*4704insTCAGAAACAGGTCAGTGATGGAGGCTGTGG		CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding					3127		chr4	TogoVar
CASP3_chr4_184622696_184654447	184651290	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG03139.hp1 HG02809.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0054 a0001c0001t0013g0223 a0001c0001t0004g0054 a0001c0001t0013g0223	2	366	0.0055	30	c.-20 others(41): Show c.-2079_-2078insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding					1844		chr4	TogoVar
CASQ1_chr1_160185575_160206886	160186086	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	440	0.0023	30	c.-46 others(41): Show c.-4666_-4665insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding					4488		chr1	TogoVar
CASQ1_chr1_160185575_160206886	160202470	G G	GTGTCCAC others(23): Show GTGTCCACAGGGTCTGACACTCAAAAGTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	440	0.0023	30	c.10 others(41): Show c.1094_*1095insTGTCCACAGGGTCTGACACTCAAAAGTTGT		CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding					585		chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761429	G G	GGGCAACA others(23): Show GGGCAACAGAATAAGACTCAGTCAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp2 HG02723.hp2 others(2): Show HG02257.hp1 HG02622.hp2 HG02723.hp2 HG02922.hp2 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0007 a0002c0004t0011 a0002c0004t0018 a0002c0003t0007 a0002c0004t0011 a0002c0004t0018	a0002c0003t0007g0012 a0002c0003t0007g0014 a0002c0003t0007g0017 others(2): Show a0002c0003t0007g0012 a0002c0003t0007g0014 a0002c0003t0007g0017 a0002c0004t0011g0013 a0002c0004t0018g0016	5	364	0.0137	30	c.234 others(47): Show c.234+6878_234+6879insTTTTTTTTGACTGAGTCTTATTCTGTTG CC		CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10						chr1	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(23): Show ACACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	228	0.0044	30	c.113 others(45): Show c.113+785_113+786insACACACACACACACACTCTCTCTCTCTCTC		CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(23): Show ACACACACACACACACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0226 a0001c0001t0009g0226	1	228	0.0044	30	c.113 others(45): Show c.113+785_113+786insACACACACACACACTCTCTCTCTCTCTCTC		CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(23): Show ACACACACACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0223 a0001c0001t0004g0223	1	228	0.0044	30	c.113 others(45): Show c.113+785_113+786insACACACACTCTCTCTCTCTCTCTCTCTCTC		CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAST_chr5_96657376_96779683	96736851	G G	GTTATAAA others(23): Show GTTATAAAGAACTTCCCTGAGACTGGGTAAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	358	0.0028	30	c.699 others(45): Show c.699+622_699+651dupCTTCCCTGAGACTGGGTAATTTATAAAGAA		CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	10/31					INFO_REALIGN_3_PRIME	chr5	TogoVar
CATSPER4_chr1_26185602_26207964	26207777	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	398	0.0025	30	c.52 others(41): Show c.5235_*5236insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG		CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding					4814		chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91661524	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02895.hp1 others(1): Show HG02615.hp2 HG02630.hp2 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0123 others(1): Show a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124	4	271	0.0148	30	c.128 others(49): Show c.1288-1544_1288-1543insATATATATATATATATATATATATAT ATAT		CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	14/26						chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02135.hp1 HG01346.hp2 HG02135.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0102 a0002c0002t0001g0298 a0001c0001t0001g0102 a0002c0002t0001g0298	2	336	0.0060	30	c.142 others(49): Show c.1428-1156_1428-1155insATATATATATATATATATATATTTTT TTTT		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5763847	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03492.hp2 HG02055.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0166 a0001c0001t0002g0059 a0001c0001t0001g0166 a0001c0001t0002g0059	2	336	0.0060	30	c.150 others(47): Show c.1506+572_1506+573insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0145 a0011c0017t0001g0145	1	206	0.0049	30	c.264 others(49): Show c.2648+7747_2648+7748insATATATATATATATTTTTTTTTTTTT TTTT		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA19055.hp2 HG02273.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0191 a0001c0001t0003g0284 a0001c0001t0002g0191 a0001c0001t0003g0284	2	342	0.0059	30	c.195 others(47): Show c.195+7707_195+7708insATATATATATATATATATATATTTTTTT TT		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA18955.hp2 NA18999.hp1 HG01069.hp2 NA18955.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0016 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0001g0016 a0001c0001t0003g0289 a0001c0001t0003g0290	3	342	0.0088	30	c.195 others(47): Show c.195+7707_195+7708insATATATATATATATATATATTTTTTTTT TT		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03098.hp1 NA19090.hp2 HG00735.hp2 HG03098.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0309 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0309	3	342	0.0088	30	c.195 others(47): Show c.195+7707_195+7708insATATATATATATATATTTTTTTTTTTTT TT		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02602.hp2 HG01496.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0220 a0001c0001t0002g0221	2	342	0.0059	30	c.195 others(47): Show c.195+7707_195+7708insATATATATATATATTTTTTTTTTTTTTT TT		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV2_chr7_116494738_116513541	116498923	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(27): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00621.hp1 HG01192.hp2 HG01346.hp1 HG01346.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02148.hp1 HG02523.hp1 HG02559.hp2 HG02683.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp2 NA18941.hp1 NA18944.hp1 NA18955.hp1 NA18960.hp2 NA18967.hp1 NA18984.hp1 NA18997.hp1 NA19066.hp1 NA19068.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0002c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0023 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0006g0001 a0001c0001t0010g0001 a0002c0002t0004g0004	30	374	0.0802	30	c.-85 others(39): Show c.-859_-858insACACACACACACACACACACACACACACAC		CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding					814		chr7	TogoVar
CAV3_chr3_8728802_8751758	8746799	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0090 a0001c0006t0010g0090	1	476	0.0021	30	c.93 others(39): Show c.932_*933insCACACACACACACACACACACACACACACA		CAV3	ENSG00000182533.7	transcript	ENST00000343849.3	protein_coding					42		chr3	TogoVar
CBFA2T2_chr20_33485096_33655030	33544990	T T	TAGAACAG others(23): Show TAGAACAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0066 a0001c0001t0011g0066	1	298	0.0034	30	c.34+ others(47): Show c.34+54693_34+54694insCAGAACAGAACAGAACAGAACAGAACAG AA		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33545010	T T	TAGAACAG others(23): Show TAGAACAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01981.hp1 HG02615.hp2 others(4): Show HG00438.hp1 HG01981.hp1 HG02615.hp2 HG02683.hp2 HG02738.hp2 NA18964.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0042 a0001c0001t0004g0049 others(4): Show a0001c0001t0004g0026 a0001c0001t0004g0042 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0061	7	298	0.0235	30	c.34+ others(47): Show c.34+54723_34+54724insCAGAACAGAACAGAACAGAACAGAACAG AA		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33621287	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18956.hp1 HG03669.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0043 a0001c0001t0001 a0001c0001t0043	a0001c0001t0001g0272 a0001c0001t0043g0221 a0001c0001t0001g0272 a0001c0001t0043g0221	2	298	0.0067	30	c.510 others(47): Show c.510+1707_510+1708insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFB_chr16_67024149_67106058	67092698	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA20300.hp1 HG02109.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0012 a0001c0001t0002g0014	2	212	0.0094	30	c.496 others(47): Show c.496-6009_496-5980dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
CBL_chr11_119201339_119313149	119206289	C C	CCGGTGGC others(23): Show CCGGTGGCGGCGGCGGCGGCGGCGGCGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	364	0.0028	30	c.-12 others(39): Show c.-129_-128insCGGTGGCGGCGGCGGCGGCGGCGGCGGCGG		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding					49		chr11	TogoVar
CBL_chr11_119201339_119313149	119264383	T T	TTTCTCTT others(23): Show TTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0030 a0001c0001t0035g0030	1	364	0.0028	30	c.444 others(47): Show c.444-7348_444-7347insCTTCTCTTCTCTTCTCTTCTCTTCTCTT CT		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
CC2D1A_chr19_13901201_13935879	13926000	G G	GTATATAT others(23): Show GTATATATATATATACGTATATATACGTGTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	370	0.0027	30	c.194 others(47): Show c.1941-493_1941-492insCGTGTATATATATATATATACGTATATA TA		CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
CC2D1A_chr19_13901201_13935879	13926030	A A	ATATATAC others(23): Show ATATATACATATATATACGTATATATATGTG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0101 a0002c0007t0001g0101	1	370	0.0027	30	c.194 others(47): Show c.1941-481_1941-480insCATATATATACGTATATATATGTGTATA TA		CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
CC2D1A_chr19_13901201_13935879	13926030	A A	ATATATAT others(23): Show ATATATATATATATATACGTATATATATGTG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0018 a0018	a0018c0021 a0018c0021	a0018c0021t0001 a0018c0021t0001	a0018c0021t0001g0052 a0018c0021t0001g0052	1	370	0.0027	30	c.194 others(47): Show c.1941-473_1941-472insTACGTATATATATGTGTATATATATATA TA		CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
CC2D1A_chr19_13901201_13935879	13926045	C C	CGTATATA others(23): Show CGTATATATATGTGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02257.hp2 others(9): Show HG01891.hp1 HG02055.hp2 HG02257.hp2 HG02486.hp1 HG02896.hp1 HG02897.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp2 NA18964.hp2 NA19085.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0007 a0006c0009 a0001c0001 a0002c0007 a0006c0009	a0001c0001t0001 a0002c0007t0001 a0006c0009t0001 a0001c0001t0001 a0002c0007t0001 a0006c0009t0001	a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0001g0096 others(8): Show a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0126 a0001c0001t0001g0137 a0002c0007t0001g0087 a0002c0007t0001g0099 a0006c0009t0001g0075 a0006c0009t0001g0097 a0006c0009t0001g0098	12	370	0.0324	30	c.194 others(47): Show c.1941-472_1941-471insGTATATATATGTGTATATATATATATAT AT		CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28						chr19	TogoVar
CC2D1A_chr19_13901201_13935879	13929777	A A	AGGGAGGG others(23): Show AGGGAGGGGCTCGGGGATGGGCACCTGGAGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0005 a0009c0016t0005	a0009c0016t0005g0148 a0009c0016t0005g0148	1	370	0.0027	30	c.271 others(47): Show c.2710+170_2710+199dupCCTGGAGGGGGAGGGGCTCGGGGATGGG CA		CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
CC2D1A_chr19_13901201_13935879	13929867	A A	AGGGAGGG others(23): Show AGGGAGGGGCTCGGGGATGGGCACCTGGAGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA20129.hp2 HG02559.hp2 NA20129.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0068 a0004c0005t0004g0150 a0004c0005t0004g0068 a0004c0005t0004g0150	2	370	0.0054	30	c.271 others(46): Show c.2711-123_2711-94dupAGGGGGAGGGGCTCGGGGATGGGCACCTG G		CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
CCAR1_chr10_68716239_68797377	68758612	T T	TGTGTATA others(23): Show TGTGTATATATATATATGTATATATACACAC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18961.hp1 NA18982.hp2 others(1): Show NA18947.hp2 NA18961.hp1 NA18982.hp2 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0122 a0001c0002t0001g0151 others(1): Show a0001c0002t0001g0110 a0001c0002t0001g0122 a0001c0002t0001g0151 a0001c0002t0001g0161	4	360	0.0111	30	c.192 others(49): Show c.1920+1251_1920+1252insGTATATATACACACGTGTATATATAT ATAT		CCAR1	ENSG00000060339.14	transcript	ENST00000265872.11	protein_coding	15/24					INFO_REALIGN_3_PRIME	chr10	TogoVar
CCBE1_chr18_59425939_59702423	59547035	A A	AAGAGAGG others(23): Show AAGAGAGGGGGAGAGAGGGGGAGAGAGGGGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	242	0.0041	30	c.213 others(49): Show c.213-66827_213-66798dupCCCCCTCTCTCCCCCTCTCTCCCCCT CTCT		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10						chr18	TogoVar
CCBE1_chr18_59425939_59702423	59573284	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG03540.hp1 HG00741.hp1 HG01243.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0096 a0001c0001t0006g0033 a0001c0001t0006g0136 a0001c0001t0001g0096 a0001c0001t0006g0033 a0001c0001t0006g0136	3	242	0.0124	30	c.213 others(49): Show c.213-93047_213-93046insATATATATATATATATATATATATAT ATAT		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10						chr18	TogoVar
CCDC102A_chr16_57507181_57541571	57520536	A A	AATAACAT others(23): Show AATAACATAACATAACATAACATAACATAAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	416	0.0024	30	c.921 others(45): Show c.921+502_921+531dupGTTATGTTATGTTATGTTATGTTATGTTAT		CCDC102A	ENSG00000135736.6	transcript	ENST00000258214.3	protein_coding	4/8						chr16	TogoVar
CCDC102B_chr18_68793080_69060189	69009924	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG01071.hp2 others(5): Show HG00140.hp2 HG00733.hp1 HG01071.hp2 HG01175.hp1 HG01496.hp1 HG03492.hp1 NA18948.hp2 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0009	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0009t0001	a0001c0001t0001g0120 a0001c0001t0001g0212 a0001c0001t0001g0213 others(5): Show a0001c0001t0001g0120 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0003t0001g0108 a0002c0002t0001g0055 a0002c0002t0001g0094 a0002c0002t0001g0098 a0002c0009t0001g0102	8	216	0.0370	30	c.126 others(47): Show c.1264-985_1264-984insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC102B_chr18_68793080_69060189	69014978	A A	AGAGTGTG others(23): Show AGAGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19007.hp2 NA20752.hp2 HG01109.hp1 NA19007.hp2 NA20752.hp2	a0002 a0020 a0002 a0020	a0002c0005 a0020c0033 a0002c0005 a0020c0033	a0002c0005t0001 a0020c0033t0001 a0002c0005t0001 a0020c0033t0001	a0002c0005t0001g0053 a0002c0005t0001g0191 a0020c0033t0001g0074 a0002c0005t0001g0053 a0002c0005t0001g0191 a0020c0033t0001g0074	3	216	0.0139	30	c.143 others(49): Show c.1434+3875_1434+3876insAGTGTGTGTGTGTGTGTGTGTGTGTG TGTG		CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC105_chr19_15005726_15028276	15018715	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01516.hp1 HG02015.hp1 others(5): Show HG00642.hp2 HG01516.hp1 HG02015.hp1 HG02074.hp1 HG02523.hp2 HG06807.hp1 HG06807.hp2 NA19075.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0024 a0002c0002 a0006c0024	a0002c0002t0001 a0006c0024t0001 a0002c0002t0001 a0006c0024t0001	a0002c0002t0001g0007 a0002c0002t0001g0026 a0002c0002t0001g0228 others(1): Show a0002c0002t0001g0007 a0002c0002t0001g0026 a0002c0002t0001g0228 a0006c0024t0001g0090	8	440	0.0182	30	c.676 others(47): Show c.676-1742_676-1741insATATATATATATATATATATATATATAT AT		CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC105_chr19_15005726_15028276	15018732	A A	ATGTATAT others(23): Show ATGTATATATACATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	440	0.0023	30	c.676 others(47): Show c.676-1729_676-1728insTGTATATATACATATATATATATATATA TT		CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6						chr19	TogoVar
CCDC116_chr22_21627760_21642329	21639255	A A	AAAAACAA others(23): Show AAAAACAAAACAAAACAAAACAAAACAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	1	394	0.0025	30	c.21 others(41): Show c.2185_*2186insAAAACAAAACAAAACAAAACAAAACAAAAC		CCDC116	ENSG00000161180.11	transcript	ENST00000292779.4	protein_coding					1927		chr22	TogoVar
CCDC122_chr13_43831352_43884740	43879778	T T	TGAGGCGG others(23): Show TGAGGCGGGGCGAGGCGGGGCGAGGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0005	1	442	0.0023	30	c.-34 others(39): Show c.-348_-347insGCCCCGCCTCGCCCCGCCTCGCCCCGCCTC		CCDC122	ENSG00000151773.13	transcript	ENST00000444614.8	protein_coding					39		chr13	TogoVar

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