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
CATSPERE_chr1_244456273_244645504	244625432	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01192.hp1 HG01192.hp2 others(6): Show HG00558.hp2 HG01192.hp1 HG01192.hp2 HG01433.hp2 HG04115.hp1 NA18953.hp2 NA19082.hp2 NA19086.hp2 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0004t0002	a0001c0001t0001g0053 a0001c0001t0001g0069 a0001c0001t0001g0101 others(6): Show a0001c0001t0001g0053 a0001c0001t0001g0069 a0001c0001t0001g0101 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0123 a0001c0001t0003g0152 a0001c0001t0003g0202 a0002c0004t0002g0023	9	14	0.6429	15	c.264 others(34): Show c.2648+7747_2648+7761dupTTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERG_chr19_38330830_38375943	38331528	G G	GGCAGGAG others(8): Show GGCAGGAGAATCACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0330 a0001c0002t0001g0330	1	374	0.0027	15	c.-43 others(26): Show c.-4362_-4361insGCAGGAGAATCACTT	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding		4301		chr19	TogoVar
CAV1_chr7_116520036_116566179	116530208	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04228.hp1 HG03239.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0087 a0001c0001t0004g0088 a0001c0001t0002g0087 a0001c0001t0004g0088	2	67	0.0299	15	c.195 others(32): Show c.195+3532_195+3533insTTTTTTTTTTTTTTT	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(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	120	0.0167	15	c.195 others(32): Show c.195+7707_195+7708insATATATATATTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA20805.hp2 HG02040.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0162 a0001c0003t0003g0151 a0001c0001t0001g0162 a0001c0003t0003g0151	2	120	0.0167	15	c.195 others(32): Show c.195+7707_195+7708insATATTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116546703	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0228 a0001c0001t0005g0228	1	340	0.0029	15	c.196 others(34): Show c.196-12232_196-12231insAAATAAAAAAAAAAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAVIN1_chr17_42397449_42428256	42411192	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0162 a0001c0001t0005g0162	1	129	0.0078	15	c.472 others(32): Show c.472-5819_472-5805dupTTTTTTTTTTTTTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42413566	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	69	0.0145	15	c.472 others(32): Show c.472-8193_472-8179dupTTTTTTTTTTTTTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CAVIN3_chr11_6313946_6325501	6324322	T T	TGCAGCAG others(8): Show TGCAGCAGTGTGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0004	1	424	0.0024	15	c.-38 others(26): Show c.-3847_-3846insTGCCCACACTGCTGC	CAVIN3	ENSG00000170955.10	transcript	ENST00000303927.4	protein_coding		3822		chr11	TogoVar
CBFA2T2_chr20_33485096_33655030	33494273	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	87	0.0115	15	c.34+ others(30): Show c.34+3973_34+3974insATATTTTTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33494274	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02683.hp2 HG01496.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0052 a0001c0001t0004g0038 a0001c0001t0004g0052	2	285	0.0070	15	c.34+ others(30): Show c.34+3973_34+3974insATATATATATATATA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10			chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33544945	C C	CAGAACAG others(8): Show CAGAACAGAATAGAAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	54	0.0185	15	c.34+ others(32): Show c.34+54648_34+54649insCAGAATAGAATAGAA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33544945	C C	CAGAATAG others(8): Show CAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03098.hp1 HG03516.hp1 HG02970.hp2 HG03098.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008	a0001c0001t0003g0146 a0001c0001t0005g0151 a0001c0001t0008g0007 a0001c0001t0003g0146 a0001c0001t0005g0151 a0001c0001t0008g0007	3	56	0.0536	15	c.34+ others(32): Show c.34+54699_34+54713dupTAGAATAGAATAGAA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33544985	T T	TAGAACAG others(8): Show TAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18522.hp1 HG02572.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0067 a0001c0001t0007g0068 a0001c0001t0007g0067 a0001c0001t0007g0068	2	293	0.0068	15	c.34+ others(32): Show c.34+54688_34+54689insCAGAACAGAACAGAA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33544990	T T	TAGAACAG others(8): Show TAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0027	1	282	0.0035	15	c.34+ others(32): Show c.34+54693_34+54694insCAGAACAGAACAGAA	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(8): Show TAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19030.hp2 HG02559.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0014 a0001c0001t0015g0015 a0001c0001t0015g0014 a0001c0001t0015g0015	2	236	0.0085	15	c.34+ others(32): Show c.34+54723_34+54724insCAGAACAGAACAGAA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33557004	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0001 a0001c0001t0030g0001	1	79	0.0127	15	c.35- others(32): Show c.35-49938_35-49924dupTTTTTTTTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33591179	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00597.hp1 others(72): Show HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00735.hp2 HG00741.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01517.hp1 HG02015.hp1 HG02083.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp2 HG03017.hp1 HG03098.hp1 HG03225.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18956.hp1 NA18960.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18975.hp1 NA18979.hp1 NA18982.hp2 NA18988.hp2 NA18994.hp1 NA18998.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19010.hp1 NA19030.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp2 NA19075.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0003t0001	a0001c0001t0001g0159 a0001c0001t0001g0198 a0001c0001t0001g0221 others(72): Show a0001c0001t0001g0159 a0001c0001t0001g0198 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0298 a0001c0001t0003g0087 a0001c0001t0003g0109 a0001c0001t0003g0119 a0001c0001t0004g0027 a0001c0001t0004g0061 a0001c0001t0005g0151 a0001c0001t0010g0092 a0001c0001t0012g0162 a0001c0001t0012g0163 a0001c0001t0012g0164 a0001c0001t0012g0165 a0001c0001t0020g0160 a0001c0001t0021g0250 a0001c0001t0021g0268 a0001c0001t0031g0069 a0001c0001t0032g0070 a0001c0001t0033g0054 a0001c0001t0041g0277 a0001c0001t0042g0197 a0001c0001t0043g0222 a0001c0003t0001g0233 a0001c0003t0001g0234 a0001c0003t0001g0237 a0001c0003t0001g0240 a0001c0003t0001g0241 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0257 a0001c0003t0001g0270 a0001c0003t0001g0281 a0001c0003t0001g0297	75	152	0.4934	15	c.35- others(32): Show c.35-15767_35-15766insAAAAAAAAAAAAAAA	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(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03471.hp1 HG03486.hp1 others(1): Show HG02622.hp2 HG03471.hp1 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0026 a0001c0001t0013 a0001c0001t0026	a0001c0001t0013g0171 a0001c0001t0013g0172 a0001c0001t0013g0211 others(1): Show a0001c0001t0013g0171 a0001c0001t0013g0172 a0001c0001t0013g0211 a0001c0001t0026g0199	4	71	0.0563	15	c.510 others(32): Show c.510+1693_510+1707dupTTTTTTTTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88880690	T T	TGCTGGCC others(8): Show TGCTGGCCAGGCCCCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02818.hp1 HG02922.hp2 others(5): Show HG02451.hp2 HG02818.hp1 HG02922.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0016	a0001c0001t0001 a0001c0002t0030 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0030 a0001c0003t0001 a0001c0016t0005	a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0086 others(5): Show a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0110 a0001c0001t0001g0230 a0001c0002t0030g0085 a0001c0003t0001g0251 a0001c0016t0005g0012	8	282	0.0284	15	c.147 others(30): Show c.1471+29_1471+30insGGGGGCCTGGCCAGC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	10/11			chr16	TogoVar
CBFB_chr16_67024149_67106058	67055357	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0185 a0001c0001t0009g0185	1	108	0.0093	15	c.283 others(34): Show c.283-11312_283-11298dupTTTTTTTTTTTTTTT	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFB_chr16_67024149_67106058	67058128	G G	GGTTGTTG others(8): Show GGTTGTTGTTGTTGTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG04115.hp2 HG00140.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0191 a0001c0001t0005g0194 a0001c0001t0005g0191 a0001c0001t0005g0194	2	188	0.0106	15	c.283 others(32): Show c.283-8537_283-8523dupTTGTTGTTGTTGTTG	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFB_chr16_67024149_67106058	67066393	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0037 a0001c0002t0006g0037	1	50	0.0200	15	c.283 others(30): Show c.283-286_283-272dupAAAAAAAAAAAAAAA	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBLB_chr3_105650461_105874012	105780653	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	332	0.0030	15	c.420 others(32): Show c.420-4112_420-4111insAAAAAAAAAAAAAAA	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	3/18			chr3	TogoVar
CBLC_chr19_44772890_44805652	44774945	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02630.hp2 HG02818.hp1 others(1): Show HG02572.hp1 HG02630.hp2 HG02818.hp1 HG03516.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0005c0005t0001g0030 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0005c0005t0001g0030 a0005c0005t0001g0034	4	304	0.0132	15	c.-29 others(26): Show c.-2987_-2986insTTTTGTTTTGTTTTG	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding		2944		chr19	TogoVar
CBLIF_chr11_59824273_59850499	59834311	T T	TCTTCTTC others(8): Show TCTTCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	10	0.1000	15	c.107 others(34): Show c.1073+1496_1073+1497insGAAGGAAGGAAGAAG	CBLIF	ENSG00000134812.8	transcript	ENST00000257248.3	protein_coding	7/8			chr11	TogoVar
CBLL2_chrX_22267913_22279461	22271960	G G	GGTTTTTT others(8): Show GGTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	5	0.2000	15	c.-10 others(26): Show c.-1032_-1031insGTTTTTTTTTTTTTT	CBLL2	ENSG00000175809.6	transcript	ENST00000323684.4	protein_coding		952		chrX	TogoVar
CBLL2_chrX_22267913_22279461	22271960	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0000 a0002c0004t0001g0000	1	5	0.2000	15	c.-10 others(26): Show c.-1032_-1031insTTTTTTTTTTTTTTT	CBLL2	ENSG00000175809.6	transcript	ENST00000323684.4	protein_coding		952		chrX	TogoVar
CBLN2_chr18_72531681_72549342	72544973	C C	CTAATAAT others(8): Show CTAATAATAATAATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19068.hp1 NA19062.hp2 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0006 a0001c0002t0006g0006	2	74	0.0270	15	c.-12 others(26): Show c.-1223_-1209dupTTATTATTATTATTA	CBLN2	ENSG00000141668.10	transcript	ENST00000269503.9	protein_coding		632		chr18	TogoVar
CBL_chr11_119201339_119313149	119206289	C C	CCGGTGGC others(8): Show CCGGTGGCGGCGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 NA18956.hp1 NA18959.hp2 HG02523.hp1 NA18956.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0134 a0001c0001t0001g0215 a0001c0001t0025g0020 a0001c0001t0001g0134 a0001c0001t0001g0215 a0001c0001t0025g0020	3	271	0.0111	15	c.-12 others(24): Show c.-129_-128insCGGTGGCGGCGGCGG	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding		49		chr11	TogoVar
CBL_chr11_119201339_119313149	119260939	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19043.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0048 a0001c0001t0002 a0001c0002t0048	a0001c0001t0002g0268 a0001c0002t0048g0047 a0001c0001t0002g0268 a0001c0002t0048g0047	2	93	0.0215	15	c.444 others(34): Show c.444-10790_444-10776dupTTTTTTTTTTTTTTT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119264383	T T	TTTCTCTT others(8): Show TTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02055.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0031 a0001c0001t0019g0034 a0001c0001t0019g0031 a0001c0001t0019g0034	2	355	0.0056	15	c.444 others(32): Show c.444-7348_444-7347insCTTCTCTTCTCTTCT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119264388	T T	TTTCTCTT others(8): Show TTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01243.hp1 others(12): Show HG00140.hp2 HG01074.hp1 HG01243.hp1 HG01346.hp1 HG01884.hp1 HG02273.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG03130.hp1 HG03516.hp1 HG03669.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0005c0008 a0001c0001 a0001c0006 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0027 a0001c0001t0030 a0001c0001t0047 a0001c0006t0033 a0005c0008t0005	a0001c0001t0001g0057 a0001c0001t0001g0088 a0001c0001t0001g0092 others(12): Show a0001c0001t0001g0057 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0003g0114 a0001c0001t0005g0243 a0001c0001t0008g0341 a0001c0001t0012g0049 a0001c0001t0012g0050 a0001c0001t0012g0051 a0001c0001t0027g0085 a0001c0001t0027g0086 a0001c0001t0030g0078 a0001c0001t0047g0344 a0001c0006t0033g0124 a0005c0008t0005g0246	15	165	0.0909	15	c.444 others(32): Show c.444-7307_444-7293dupCTTCTCTTCTCTTCT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119264388	T T	TTTCTTTT others(8): Show TTTCTTTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	151	0.0066	15	c.444 others(32): Show c.444-7343_444-7342insTTTCTCTTCTCTTCT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119283625	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	32	0.0313	15	c.143 others(34): Show c.1432-1328_1432-1314dupTTTTTTTTTTTTTTT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBR3_chr21_36130079_36151562	36138103	T T	TTTTAGTT others(8): Show TTTTAGTTTAGTTTAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp2 NA18522.hp2 HG01109.hp2 HG02257.hp2 NA18522.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0007 a0002c0002 a0004c0007	a0002c0002t0001 a0004c0007t0001 a0002c0002t0001 a0004c0007t0001	a0002c0002t0001g0090 a0002c0002t0001g0119 a0004c0007t0001g0120 a0002c0002t0001g0090 a0002c0002t0001g0119 a0004c0007t0001g0120	3	246	0.0122	15	c.397 others(30): Show c.397+190_397+204dupAGTTTAGTTTAGTTT	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr21	TogoVar
CBR3_chr21_36130079_36151562	36142431	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG01099.hp2 others(44): Show HG00280.hp1 HG00423.hp1 HG01099.hp2 HG01167.hp2 HG01346.hp1 HG01361.hp1 HG01943.hp1 HG02056.hp1 HG02145.hp2 HG02148.hp1 HG02451.hp1 HG02602.hp1 HG02602.hp2 HG02738.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18940.hp2 NA18960.hp2 NA18963.hp2 NA18967.hp2 NA18971.hp1 NA18978.hp2 NA18979.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp2 NA19011.hp2 NA19043.hp2 NA19057.hp2 NA19062.hp2 NA19066.hp1 NA19084.hp1 NA19087.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0014 a0002c0002t0001g0024 others(33): Show a0002c0002t0001g0008 a0002c0002t0001g0014 a0002c0002t0001g0024 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0050 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0100 a0002c0002t0001g0102 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0132 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0152 a0002c0002t0001g0266 a0002c0002t0001g0275	47	292	0.1610	15	c.398 others(32): Show c.398-3642_398-3628dupAAAAAAAAAAAAAAA	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr21	TogoVar
CBR3_chr21_36130079_36151562	36142435	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	421	0.0024	15	c.398 others(32): Show c.398-3628_398-3627insACAAAAAAAAAAAAA	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr21	TogoVar
CBR3_chr21_36130079_36151562	36142436	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02040.hp2 HG02080.hp1 others(15): Show HG00558.hp1 HG02040.hp2 HG02080.hp1 HG02083.hp1 HG02683.hp1 HG04184.hp2 NA18940.hp1 NA18942.hp1 NA18951.hp1 NA18962.hp1 NA18967.hp1 NA18993.hp1 NA19001.hp1 NA19006.hp2 NA19010.hp2 NA19065.hp2 NA19088.hp2 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0055 others(12): Show a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0224 a0001c0001t0001g0225 a0007c0010t0001g0187	18	287	0.0627	15	c.398 others(32): Show c.398-3628_398-3627insAACAAAAAAAAAAAA	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr21	TogoVar
CBR3_chr21_36130079_36151562	36142441	A A	AAAAAAAA others(8): Show AAAAAAAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19086.hp2 NA19066.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0189 a0001c0001t0001g0198	2	413	0.0048	15	c.398 others(32): Show c.398-3628_398-3627insAACAAAACAAAAAAA	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr21	TogoVar
CBR3_chr21_36130079_36151562	36146917	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0117 a0002c0002t0001g0117	1	118	0.0085	15	c.40 others(24): Show c.405_*406insTTTTTTTTTTTTTTT	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding		356		chr21	TogoVar
CBX1_chr17_48065059_48106478	48073824	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01517.hp1 HG02055.hp1 others(4): Show HG00642.hp1 HG01517.hp1 HG02055.hp1 HG02572.hp1 HG02886.hp1 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0039 a0001c0001t0002g0041 others(4): Show a0001c0001t0002g0031 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0059 a0001c0001t0002g0101	7	33	0.2121	15	c.413 others(32): Show c.413+1167_413+1181dupTTTTTTTTTTTTTTT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	4/4			chr17	TogoVar
CBX1_chr17_48065059_48106478	48080951	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	241	0.0041	15	c.-37 others(32): Show c.-37-3911_-37-3910insATATTTTTTTTTTTT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX1_chr17_48065059_48106478	48080951	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18982.hp2 HG03139.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0218 a0001c0001t0001g0152 a0001c0001t0001g0218	2	242	0.0083	15	c.-37 others(32): Show c.-37-3911_-37-3910insATATATATATTTTTT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX1_chr17_48065059_48106478	48080951	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	241	0.0041	15	c.-37 others(32): Show c.-37-3911_-37-3910insATATATATATATATA	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX1_chr17_48065059_48106478	48100137	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02886.hp2 others(2): Show HG02258.hp2 HG02559.hp2 HG02886.hp2 NA18995.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 others(2): Show a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341	5	100	0.0500	15	c.-38 others(32): Show c.-38+1116_-38+1130dupTTTTTTTTTTTTTTT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX1_chr17_48065059_48106478	48101948	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00733.hp1 others(9): Show HG00140.hp2 HG00323.hp2 HG00733.hp1 HG01074.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01981.hp2 HG02559.hp2 HG03927.hp1 HG03942.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0151 a0001c0001t0001g0337 a0001c0001t0004g0022 others(8): Show a0001c0001t0001g0151 a0001c0001t0001g0337 a0001c0001t0004g0022 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0004g0303 a0001c0001t0004g0312 a0001c0001t0004g0313	12	58	0.2069	15	c.-71 others(24): Show c.-719_-718insTTTTTTTTTTTTTTT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding		471		chr17	TogoVar
CBX1_chr17_48065059_48106478	48105324	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	49	0.0204	15	c.-41 others(26): Show c.-4109_-4095dupAAAAAAAAAAAAAAA	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding		3847		chr17	TogoVar
CBY1_chr22_38651638_38678850	38674839	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02976.hp1 HG02922.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0001t0001g0131 a0001c0001t0001g0141	2	130	0.0154	15	c.16 others(26): Show c.1603_*1604insAAAAAAAAAAAAAAA	CBY1	ENSG00000100211.12	transcript	ENST00000216029.8	protein_coding		990		chr22	TogoVar
CBY2_chr13_45697320_45719559	45702901	A A	ATAACCCC others(8): Show ATAACCCCCCATCTCC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	438	0.0023	15	c.156 others(28): Show c.156+48_156+62dupAACCCCCCATCTCCT	CBY2	ENSG00000174015.10	transcript	ENST00000310521.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr13	TogoVar

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