Joint Open Genome and Omics Platform (JoGo)

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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
KALRN_chr3_124028369_124731325	124664371	G G	GTGTGTGC others(15): Show GTGTGTGCGCGCGCGCGCGTGCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0016 a0001c0067t0016	a0001c0067t0016g0103 a0001c0067t0016g0103	1	116	0.0086	22	c.634 others(41): Show c.6346-2078_6346-2077insTGTGTGCGCGCGCGCGCGTGCA	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	45/59			chr3	TogoVar
KANK1_chr9_499695_751103	516998	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01891.hp2 HG01934.hp1 others(4): Show HG00558.hp1 HG01891.hp2 HG01934.hp1 NA18906.hp1 NA18906.hp2 NA19063.hp1 NA19066.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0031	a0001c0001 a0003c0003 a0004c0005 others(2): Show a0001c0001 a0003c0003 a0004c0005 a0004c0034 a0031c0042	a0001c0001t0004 a0003c0003t0001 a0004c0005t0001 others(2): Show a0001c0001t0004 a0003c0003t0001 a0004c0005t0001 a0004c0034t0001 a0031c0042t0002	a0001c0001t0004g0018 a0001c0001t0004g0019 a0003c0003t0001g0046 others(4): Show a0001c0001t0004g0018 a0001c0001t0004g0019 a0003c0003t0001g0046 a0003c0003t0001g0050 a0004c0005t0001g0092 a0004c0034t0001g0096 a0031c0042t0002g0086	7	254	0.0276	22	c.-84 others(41): Show c.-84+12252_-84+12273dupCACACACACACACACACACACA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	598620	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	254	0.0039	22	c.-83 others(41): Show c.-83-78261_-83-78240dupTTTTTTTTTTTTTTTTTTTTTT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK2_chr19_11159270_11202545	11160188	A A	AAATTGAG others(15): Show AAATTGAGACCTCTGCCAAGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0375 a0001c0002t0002g0375	1	394	0.0025	22	c.63 others(33): Show c.6369_*6370insCTGCTTGGCAGAGGTCTCAATT	KANK2	ENSG00000197256.11	transcript	ENST00000586659.6	protein_coding		4081		chr19	TogoVar
KANK3_chr19_8317584_8348262	8340291	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	406	0.0025	22	c.-28 others(39): Show c.-28-2436_-28-2435insGTGTATATATATATATATATAT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10			chr19	TogoVar
KANK3_chr19_8317584_8348262	8345713	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 NA18997.hp2 HG01071.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0373 a0002c0002t0001g0002 a0002c0002t0001g0373	2	406	0.0049	22	c.-25 others(33): Show c.-2518_-2517insTATATATATATATATACACACA	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding		2452		chr19	TogoVar
KANSL1L_chr2_210016421_210176409	210079642	A A	ATATATAT others(15): Show ATATATATATATATATGTATGTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	284	0.0035	22	c.155 others(41): Show c.1551-3887_1551-3886insCACATACATATATATATATATA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	5/14			chr2	TogoVar
KANSL1L_chr2_210016421_210176409	210079668	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	284	0.0035	22	c.155 others(41): Show c.1551-3913_1551-3912insCATATATATATATATATATATA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	5/14			chr2	TogoVar
KANSL1L_chr2_210016421_210176409	210079704	A A	ATATATAT others(15): Show ATATATATATATGTATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01346.hp1 NA18962.hp1 HG00438.hp1 HG01346.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0004 a0001c0011t0001 a0001c0001t0001 a0001c0001t0004 a0001c0011t0001	a0001c0001t0001g0083 a0001c0001t0004g0258 a0001c0011t0001g0061 a0001c0001t0001g0083 a0001c0001t0004g0258 a0001c0011t0001g0061	3	284	0.0106	22	c.155 others(41): Show c.1551-3949_1551-3948insCACACACATACATATATATATA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	5/14			chr2	TogoVar
KANSL1L_chr2_210016421_210176409	210162222	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG01123.hp2 others(11): Show HG00639.hp1 HG01081.hp1 HG01123.hp2 HG01928.hp1 HG02132.hp2 HG02258.hp2 HG02602.hp2 HG02630.hp2 HG02735.hp1 HG02965.hp1 NA18967.hp2 NA19030.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0003t0011	a0001c0001t0001g0035 a0001c0001t0001g0055 a0001c0001t0001g0057 others(11): Show a0001c0001t0001g0035 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0003g0024 a0001c0001t0006g0240 a0001c0001t0006g0241 a0001c0001t0008g0005 a0001c0003t0011g0235	14	284	0.0493	22	c.-29 others(39): Show c.-29-7612_-29-7611insTATATATATATATATATATATA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	1/14			chr2	TogoVar
KANSL1_chr17_46024916_46198429	46096302	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	321	0.0031	22	c.129 others(41): Show c.1290-1602_1290-1601insAAAAAAAAAAAAAAAAAAAAAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02257.hp2 HG02735.hp2 others(1): Show HG01433.hp1 HG02257.hp2 HG02735.hp2 HG03704.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0301 a0003c0004t0005g0303 a0003c0004t0005g0307 others(1): Show a0003c0004t0005g0301 a0003c0004t0005g0303 a0003c0004t0005g0307 a0003c0004t0005g0315	4	321	0.0125	22	c.129 others(41): Show c.1290-1611_1290-1610insAAAAAAAAAAGAAAGAAAGAAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	321	0.0031	22	c.129 others(41): Show c.1290-1611_1290-1610insAAAAAGAAAAAAAAAAAAAAAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02155.hp2 HG02698.hp2 others(2): Show HG01346.hp1 HG02155.hp2 HG02698.hp2 NA19005.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0144 others(2): Show a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0144 a0001c0001t0002g0152 a0001c0001t0002g0154	5	321	0.0156	22	c.129 others(41): Show c.1290-1611_1290-1610insAAAAAAAAAAAAAAAAAAAAAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46105906	G G	GAGACACA others(15): Show GAGACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0223 a0001c0001t0004g0223	1	321	0.0031	22	c.129 others(43): Show c.1290-11206_1290-11205insGTGTGTGTGTGTGTGTGTGTCT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46125035	G G	GGGAGGGA others(15): Show GGGAGGGAGGGAGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0190 a0001c0006t0004g0190	1	321	0.0031	22	c.129 others(43): Show c.1290-30356_1290-30335dupTCCCTCCCTCCTCCCTCCCTCC	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL3_chr2_96588172_96643312	96611903	A A	ATATATGT others(15): Show ATATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18994.hp1 NA18980.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0111 a0001c0001t0001g0037 a0001c0001t0001g0111	2	340	0.0059	22	c.108 others(39): Show c.1086+378_1086+379insCACACACACACACACACATATA	KANSL3	ENSG00000114982.19	transcript	ENST00000431828.6	protein_coding	9/20			chr2	TogoVar
KANSL3_chr2_96588172_96643312	96611903	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG01123.hp2 others(2): Show HG00544.hp2 HG00609.hp1 HG01123.hp2 HG02630.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0211 a0001c0001t0001g0231 others(2): Show a0001c0001t0001g0048 a0001c0001t0001g0211 a0001c0001t0001g0231 a0001c0001t0001g0245 a0001c0001t0001g0248	5	340	0.0147	22	c.108 others(39): Show c.1086+357_1086+378dupCACACACACACACACACACACA	KANSL3	ENSG00000114982.19	transcript	ENST00000431828.6	protein_coding	9/20			chr2	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 NA18522.hp2 HG02071.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0022 a0002c0002t0001g0181 a0001c0001t0001g0022 a0002c0002t0001g0181	2	380	0.0053	22	c.37 others(33): Show c.3761_*3762insAAAATATATATATATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 NA19090.hp1 NA19090.hp2 HG02071.hp1 NA19090.hp1 NA19090.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0241 a0004c0005t0001g0141 a0001c0001t0001g0001 a0001c0001t0001g0241 a0004c0005t0001g0141	3	380	0.0079	22	c.37 others(33): Show c.3761_*3762insAAAAAATATATATATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	380	0.0026	22	c.37 others(33): Show c.3761_*3762insAAAAAAAATATATATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 NA19083.hp2 HG02074.hp1 NA19083.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0036 a0004c0005t0001g0033 a0001c0001t0001g0036 a0004c0005t0001g0033	2	380	0.0053	22	c.37 others(33): Show c.3761_*3762insAAAAAAAAAATATATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KAT2B_chr3_20035446_20159404	20081878	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 NA18959.hp1 HG01243.hp2 HG02145.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0158 a0001c0002t0001g0229 a0001c0005t0001g0159 a0001c0001t0001g0158 a0001c0002t0001g0229 a0001c0005t0001g0159	3	374	0.0080	22	c.430 others(39): Show c.430+9431_430+9432insATATATATATATATATATATAT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20149495	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA19064.hp2 NA20129.hp2 HG01943.hp1 NA19064.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006	a0001c0002t0001g0151 a0001c0002t0002g0312 a0001c0002t0006g0263 a0001c0002t0001g0151 a0001c0002t0002g0312 a0001c0002t0006g0263	3	374	0.0080	22	c.230 others(41): Show c.2305+1012_2305+1033dupAAAAAAAAAAAAAAAAAAAAAA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT6A_chr8_41924479_42056987	42054248	A A	AATATATA others(15): Show AATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0068 a0001c0003t0068	a0001c0003t0068g0153 a0001c0003t0068g0153	1	374	0.0027	22	c.-26 others(33): Show c.-2674_-2673insATATATATATATATATATATAT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2262		chr8	TogoVar
KAT6A_chr8_41924479_42056987	42054261	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0015 a0001c0001t0055g0015	1	374	0.0027	22	c.-26 others(33): Show c.-2687_-2686insCATATATATATATATATATATA	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2275		chr8	TogoVar
KAT6A_chr8_41924479_42056987	42054262	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0063 a0001c0004t0063	a0001c0004t0063g0132 a0001c0004t0063g0132	1	374	0.0027	22	c.-26 others(33): Show c.-2688_-2687insATATATATATTTTTTTTTTTTT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2276		chr8	TogoVar
KAT6A_chr8_41924479_42056987	42054262	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG03041.hp2 HG01167.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0012 a0001c0008t0017 a0001c0004t0012 a0001c0008t0017	a0001c0004t0012g0125 a0001c0008t0017g0131 a0001c0004t0012g0125 a0001c0008t0017g0131	2	374	0.0054	22	c.-26 others(33): Show c.-2688_-2687insATATATATATATATATATTTTT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2276		chr8	TogoVar
KAT6A_chr8_41924479_42056987	42054262	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG03130.hp1 HG02896.hp2 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0032 a0001c0004t0067 a0001c0004t0032 a0001c0004t0067	a0001c0004t0032g0123 a0001c0004t0067g0124 a0001c0004t0032g0123 a0001c0004t0067g0124	2	374	0.0054	22	c.-26 others(33): Show c.-2688_-2687insATATATATATATATATATATTT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2276		chr8	TogoVar
KAT6A_chr8_41924479_42056987	42054262	A A	AATATATA others(15): Show AATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 NA21309.hp1 HG02886.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0086 a0001c0005t0020 a0001c0004t0086 a0001c0005t0020	a0001c0004t0086g0133 a0001c0005t0020g0118 a0001c0004t0086g0133 a0001c0005t0020g0118	2	374	0.0054	22	c.-26 others(33): Show c.-2688_-2687insATATATATATATATATATATAT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2276		chr8	TogoVar
KATNAL1_chr13_30197630_30312551	30218227	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0226 a0001c0002t0010g0226	1	386	0.0026	22	c.114 others(41): Show c.1148-7786_1148-7785insTTATATATATATATATATATAT	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	9/10			chr13	TogoVar
KATNAL1_chr13_30197630_30312551	30274891	A A	ACATACGC others(15): Show ACATACGCGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	386	0.0026	22	c.323 others(39): Show c.323+5171_323+5172insCGCGCGCGCGCGCGCGCGTATG	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	3/10			chr13	TogoVar
KATNAL1_chr13_30197630_30312551	30274891	A A	ACGCGCGC others(15): Show ACGCGCGCGCGCGTGCGCGCGCG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0007 a0001c0001t0061g0007	1	386	0.0026	22	c.323 others(39): Show c.323+5171_323+5172insCGCGCGCGCACGCGCGCGCGCG	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	3/10			chr13	TogoVar
KATNB1_chr16_57730770_57762244	57762170	C C	CTGACGGT others(15): Show CTGACGGTGATGGTGTACTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	402	0.0025	22	c.52 others(33): Show c.5224_*5225insTGACGGTGATGGTGTACTCCCA	KATNB1	ENSG00000140854.13	transcript	ENST00000379661.8	protein_coding		4927		chr16	TogoVar
KATNIP_chr16_27545144_27785344	27661935	T T	TATATATA others(15): Show TATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0112 a0008c0010t0002g0113 a0008c0010t0002g0112 a0008c0010t0002g0113	2	152	0.0132	22	c.540 others(41): Show c.540+13215_540+13216insCACATACATATATATATATATA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KAZN_chr1_14593685_15123043	14702326	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0045 a0001c0001t0020g0045	1	146	0.0069	22	c.226 others(43): Show c.226+103122_226+103143dupTGTGTGTGTGTGTGTGTGTGTG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883318	A A	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0118 a0001c0001t0011g0118	1	146	0.0069	22	c.227 others(41): Show c.227-77362_227-77341dupGAGAGAGAGAGAGAGAGAGAGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14921153	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0024 a0002c0004t0024	a0002c0004t0024g0059 a0002c0004t0024g0059	1	146	0.0069	22	c.227 others(41): Show c.227-39517_227-39496dupCACACACACACACACACACACA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15048422	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03834.hp2 HG03492.hp2 HG03834.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0024 a0002c0004t0001 a0002c0004t0024	a0002c0004t0001g0089 a0002c0004t0024g0059 a0002c0004t0001g0089 a0002c0004t0024g0059	2	146	0.0137	22	c.726 others(39): Show c.726+4280_726+4281insGTGTGTGTGTGTGTGTGTGTGT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15101164	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03195.hp2 HG01358.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0002c0004t0001 a0001c0001t0003 a0002c0004t0001	a0001c0001t0003g0056 a0002c0004t0001g0110 a0001c0001t0003g0056 a0002c0004t0001g0110	2	146	0.0137	22	c.154 others(39): Show c.1548-377_1548-356dupCTCTCTCTCTCTCTCTCTCTCT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1993922	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02602.hp1 NA19043.hp1 HG02257.hp2 HG02602.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0030 a0001c0001t0001 a0001c0001t0003 a0001c0001t0030	a0001c0001t0001g0202 a0001c0001t0003g0042 a0001c0001t0030g0322 a0001c0001t0001g0202 a0001c0001t0003g0042 a0001c0001t0030g0322	3	389	0.0077	22	c.-90 others(41): Show c.-908-6347_-908-6326dupCACACACACACACACACACACA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD2_chr7_32863172_32896760	32891887	G G	GCCGCCCC others(15): Show GCCGCCCCCCGCCGCCCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	434	0.0023	22	c.-69 others(31): Show c.-691_-690insGGGCGGGGGCGGCGGGGGGCGG	KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding		128		chr7	TogoVar
KBTBD4_chr11_47567197_47583970	47582133	G G	GTGAAGAC others(15): Show GTGAAGACCTACACAGATGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	22	c.-32 others(33): Show c.-3204_-3183dupAGCTCATCTGTGTAGGTCTTCA	KBTBD4	ENSG00000123444.14	transcript	ENST00000430070.7	protein_coding		3164		chr11	TogoVar
KCNAB1_chr3_156115578_156543605	156143569	G G	GTTGTTTT others(15): Show GTTGTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	124	0.0081	22	c.275 others(41): Show c.275+22685_275+22686insGTTTTTTTTTTTTTTTTTTTTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156428488	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	124	0.0081	22	c.319 others(39): Show c.319+6854_319+6875dupACACACACACACACACACACAC	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156428533	A A	ACACACAC others(15): Show ACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0036 a0002c0006t0003g0036	1	124	0.0081	22	c.319 others(39): Show c.319+6875_319+6876insACACACACACACACACACACCC	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB2_chr1_6040888_6106180	6106168	T T	TGTGGCCA others(15): Show TGTGGCCAGGCCTGGTTTGCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	360	0.0028	22	c.75 others(33): Show c.7594_*7595insGTGGCCAGGCCTGGTTTGCCAG	KCNAB2	ENSG00000069424.16	transcript	ENST00000378083.8	protein_coding		4989		chr1	TogoVar
KCNB2_chr8_72532225_72943349	72725591	G G	GTATGTAT others(15): Show GTATGTATGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	164	0.0061	22	c.579 others(43): Show c.579+157281_579+157282insGTATGTGTATATATATATATAT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNB2_chr8_72532225_72943349	72778733	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	1	164	0.0061	22	c.580 others(43): Show c.580-157193_580-157172dupAAAAAAAAAAAAAAAAAAAAAA	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNB2_chr8_72532225_72943349	72882520	T T	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	164	0.0061	22	c.580 others(41): Show c.580-53400_580-53379dupGAGAGAGAGAGAGAGAGAGAGA	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar

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