Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
KANSL1_chr17_46024916_46198429	46143803	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0306 a0003c0004t0005g0306	1	321	0.0031	15	c.128 others(36): Show c.1289+27037_1289+27051dupTTTTTTTTTTTTTTT		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14						chr17	TogoVar
KANSL1_chr17_46024916_46198429	46189031	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	321	0.0031	15	c.-90 others(32): Show c.-90+3777_-90+3791dupTTTTTTTTTTTTTTT		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	1/14						chr17	TogoVar
KANSL3_chr2_96588172_96643312	96615165	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG03098.hp2 others(1): Show HG02486.hp2 HG02615.hp1 HG03098.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 others(1): Show a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0014t0001g0266	4	340	0.0118	15	c.664 others(32): Show c.664-1561_664-1547dupTTTTTTTTTTTTTTT		KANSL3	ENSG00000114982.19	transcript	ENST00000431828.6	protein_coding	5/20						chr2	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(8): Show ATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18971.hp1 NA18971.hp2 others(1): Show NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18997.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0020 a0001c0001t0001g0139 a0001c0001t0001g0142 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0139 a0001c0001t0001g0142 a0003c0003t0001g0019	4	380	0.0105	15	c.37 others(26): Show c.3761_*3762insAAAAATATATATATA		KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding					3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(8): Show ATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 NA18962.hp1 NA18962.hp2 others(2): Show HG00558.hp1 NA18962.hp1 NA18962.hp2 NA18998.hp2 NA19059.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0005 a0001c0001 a0003c0003 a0004c0005	a0001c0001t0001 a0003c0003t0001 a0004c0005t0001 a0001c0001t0001 a0003c0003t0001 a0004c0005t0001	a0001c0001t0001g0002 a0003c0003t0001g0018 a0003c0003t0001g0019 others(1): Show a0001c0001t0001g0002 a0003c0003t0001g0018 a0003c0003t0001g0019 a0004c0005t0001g0162	5	380	0.0132	15	c.37 others(26): Show c.3761_*3762insAAAAAAATATATATA		KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding					3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(8): Show ATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0148 a0003c0003t0001g0148	1	380	0.0026	15	c.37 others(26): Show c.3761_*3762insAAAAAAAAATATATA		KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding					3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	380	0.0026	15	c.37 others(26): Show c.3761_*3762insAAAAAAAAAAATATA		KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding					3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624134	T T	TATATATA others(8): Show TATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG03540.hp1 HG01975.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0118 a0001c0001t0001g0005 a0001c0001t0001g0118	2	380	0.0053	15	c.37 others(26): Show c.3760_*3761insTATATATATATATAT		KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding					3589		chr16	TogoVar
KASH5_chr19_49383249_49422990	49385127	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02258.hp1 others(3): Show HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02717.hp2 HG03098.hp1 HG03130.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0002 a0002c0003t0004g0144 a0002c0003t0004g0146 others(2): Show a0002c0003t0004g0002 a0002c0003t0004g0144 a0002c0003t0004g0146 a0002c0003t0004g0148 a0002c0003t0004g0150	6	354	0.0170	15	c.-32 others(26): Show c.-3296_-3295insAAAAAAAAAAAAAAA		KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding					3121		chr19	TogoVar
KAT2B_chr3_20035446_20159404	20092236	T T	TTTATTTA others(8): Show TTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00597.hp1 others(102): Show HG00323.hp1 HG00423.hp2 HG00597.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG04184.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18963.hp2 NA18968.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18998.hp1 NA19006.hp2 NA19009.hp2 NA19043.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0009c0009	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0005t0001 a0002c0003t0003 a0009c0009t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(101): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0098 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0306 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0371 a0001c0001t0004g0009 a0001c0001t0004g0024 a0001c0001t0004g0028 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0201 a0001c0001t0004g0217 a0001c0001t0004g0225 a0001c0001t0004g0340 a0001c0002t0001g0029 a0001c0002t0001g0073 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0106 a0001c0002t0001g0115 a0001c0002t0001g0127 a0001c0002t0001g0138 a0001c0002t0001g0146 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0229 a0001c0002t0001g0240 a0001c0002t0001g0243 a0001c0002t0001g0250 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0365 a0001c0002t0001g0366 a0001c0002t0001g0367 a0001c0002t0002g0062 a0001c0002t0002g0097 a0001c0002t0002g0164 a0001c0002t0002g0218 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0321 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0002g0335 a0001c0002t0002g0342 a0001c0002t0002g0343 a0001c0002t0002g0344 a0001c0002t0002g0351 a0001c0002t0002g0359 a0001c0002t0003g0216 a0001c0002t0003g0305 a0001c0002t0003g0307 a0001c0002t0004g0040 a0001c0002t0004g0042 a0001c0002t0004g0157 a0001c0002t0004g0364 a0001c0002t0005g0010 a0001c0002t0005g0011 a0001c0002t0005g0012 a0001c0002t0005g0017 a0001c0002t0005g0019 a0001c0002t0005g0035 a0001c0002t0005g0036 a0001c0002t0005g0207 a0001c0002t0005g0210 a0001c0002t0005g0211 a0001c0002t0005g0308 a0001c0002t0005g0309 a0001c0002t0005g0310 a0001c0002t0006g0107 a0001c0002t0006g0171 a0001c0002t0006g0220 a0001c0002t0006g0222 a0001c0002t0006g0241 a0001c0002t0006g0263 a0001c0002t0006g0349 a0001c0002t0006g0360 a0001c0002t0006g0361 a0001c0005t0001g0018 a0001c0005t0001g0159 a0001c0005t0001g0209 a0001c0005t0001g0315 a0001c0005t0001g0338 a0002c0003t0003g0239 a0009c0009t0002g0242	105	374	0.2808	15	c.431 others(32): Show c.431-3017_431-3016insATTTATTATTTATTT		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(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01106.hp1 HG01358.hp2 others(7): Show HG00558.hp1 HG01106.hp1 HG01358.hp2 HG02015.hp2 HG02109.hp1 HG02129.hp1 HG02559.hp1 HG04184.hp2 NA18960.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0078 others(7): Show a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0002g0258 a0001c0001t0003g0259 a0001c0001t0008g0350 a0001c0002t0001g0243 a0001c0002t0001g0365 a0001c0002t0001g0366	10	374	0.0267	15	c.230 others(34): Show c.2305+1019_2305+1033dupAAAAAAAAAAAAAAA		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	17/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT6A_chr8_41924479_42056987	41989528	A A	AACGTGAC others(8): Show AACGTGACGTAACGTG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	374	0.0027	15	c.601 others(32): Show c.601-1966_601-1965insCACGTTACGTCACGT		KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding	2/16						chr8	TogoVar
KAT6A_chr8_41924479_42056987	41989528	A A	AACGTGAC others(8): Show AACGTGACGTGACGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp1 HG03139.hp2 HG02818.hp2 HG03098.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0083 a0001c0001t0085 a0001c0003t0076 a0001c0001t0083 a0001c0001t0085 a0001c0003t0076	a0001c0001t0083g0171 a0001c0001t0085g0172 a0001c0003t0076g0173 a0001c0001t0083g0171 a0001c0001t0085g0172 a0001c0003t0076g0173	3	374	0.0080	15	c.601 others(32): Show c.601-1980_601-1966dupCACGTCACGTCACGT		KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding	2/16						chr8	TogoVar
KAT6A_chr8_41924479_42056987	42051615	G G	GGCGCGGG others(8): Show GGCGCGGGGCCCGCGA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0299 a0001c0001t0014g0299	1	374	0.0027	15	c.-32 others(32): Show c.-326+271_-326+285dupTCGCGGGCCCCGCGC		KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding	1/16						chr8	TogoVar
KAT6A_chr8_41924479_42056987	42054248	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	374	0.0027	15	c.-26 others(26): Show c.-2674_-2673insATATATATATATATA		KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding					2262		chr8	TogoVar
KAT6A_chr8_41924479_42056987	42054250	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0090 a0001c0003t0090	a0001c0003t0090g0287 a0001c0003t0090g0287	1	374	0.0027	15	c.-26 others(26): Show c.-2676_-2675insATATATATATATATA		KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding					2264		chr8	TogoVar
KAT6B_chr10_74821600_75037624	74830769	T T	TATATATG others(8): Show TATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18906.hp2 HG01884.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0102 a0001c0003t0002g0129 a0001c0003t0002g0102 a0001c0003t0002g0129	2	236	0.0085	15	c.-32 others(34): Show c.-329+3984_-329+3985insATATATGTATATATA		KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	1/17						chr10	TogoVar
KAT6B_chr10_74821600_75037624	74830769	T T	TATATGTA others(8): Show TATATGTATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18943.hp2 HG03139.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0219 a0001c0001t0005g0214 a0001c0001t0001g0219 a0001c0001t0005g0214	2	236	0.0085	15	c.-32 others(34): Show c.-329+3984_-329+3985insATATGTATATATATA		KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	1/17						chr10	TogoVar
KAT6B_chr10_74821600_75037624	74990196	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	236	0.0042	15	c.262 others(34): Show c.2629+1103_2629+1117dupAAAAAAAAAAAAAAA		KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	13/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
KAT8_chr16_31112664_31136359	31117401	T T	TAAATAAA others(8): Show TAAATAAATAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp2 HG03492.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0001g0002 a0001c0001t0001g0029	2	290	0.0069	15	c.-28 others(24): Show c.-281_-280insAAATAAATAAATAAA		KAT8	ENSG00000103510.20	transcript	ENST00000219797.9	protein_coding					262		chr16	TogoVar
KATNA1_chr6_149589873_149653714	149609802	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	296	0.0034	15	c.502 others(32): Show c.502-5021_502-5020insTTTTTTTTTTTTTTT		KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10						chr6	TogoVar
KATNA1_chr6_149589873_149653714	149613179	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02615.hp2 HG02622.hp1 others(2): Show HG00408.hp2 HG02615.hp2 HG02622.hp1 HG02735.hp1 NA18968.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0003c0004t0001	a0001c0001t0001g0074 a0001c0001t0001g0251 a0001c0001t0003g0012 others(2): Show a0001c0001t0001g0074 a0001c0001t0001g0251 a0001c0001t0003g0012 a0001c0002t0001g0157 a0003c0004t0001g0019	5	296	0.0169	15	c.502 others(32): Show c.502-8412_502-8398dupTTTTTTTTTTTTTTT		KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10						chr6	TogoVar
KATNA1_chr6_149589873_149653714	149634275	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(35): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01168.hp2 HG01169.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG02055.hp2 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02602.hp2 HG02735.hp1 HG03195.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG04184.hp1 NA18945.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18967.hp1 NA18993.hp1 NA19003.hp2 NA19009.hp2 NA19083.hp2 NA19087.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0025 others(34): Show a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0234 a0001c0001t0002g0021 a0001c0001t0002g0144 a0001c0001t0003g0012	38	296	0.1284	15	c.163 others(32): Show c.163-1374_163-1360dupATTTTATTTTATTTT		KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	2/10						chr6	TogoVar
KATNBL1_chr15_34135674_34215096	34137036	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG01168.hp2 others(24): Show HG00408.hp2 HG00738.hp2 HG01168.hp2 HG01169.hp1 HG01515.hp2 HG01943.hp2 HG02015.hp2 HG02165.hp2 HG03669.hp1 HG03688.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18949.hp1 NA18955.hp1 NA18966.hp2 NA18968.hp2 NA18977.hp2 NA18978.hp1 NA18999.hp1 NA19005.hp2 NA19010.hp1 NA19030.hp1 NA19066.hp1 NA19066.hp2 NA19084.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 a0001c0001t0001 a0001c0001t0009 a0001c0001t0013	a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0053 others(24): Show a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0114 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0201 a0001c0001t0009g0169 a0001c0001t0013g0341	27	344	0.0785	15	c.53 others(26): Show c.5302_*5303insTTTTTTTTTTTTTTT		KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding					3637		chr15	TogoVar
KATNBL1_chr15_34135674_34215096	34177633	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	344	0.0029	15	c.-14 others(34): Show c.-14-13944_-14-13943insTTTTTTTTTTTTTTT		KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9						chr15	TogoVar
KATNBL1_chr15_34135674_34215096	34187249	G G	GCAGAGAG others(8): Show GCAGAGAGGAGCCACT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	344	0.0029	15	c.-15 others(34): Show c.-15+22687_-15+22701dupAGTGGCTCCTCTCTG		KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9						chr15	TogoVar
KATNBL1_chr15_34135674_34215096	34188137	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18522.hp1 NA18959.hp1 others(5): Show HG02280.hp2 NA18522.hp1 NA18959.hp1 NA18979.hp2 NA18989.hp1 NA19000.hp2 NA19030.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0040 others(5): Show a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0070 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0117 a0001c0001t0001g0142	8	344	0.0233	15	c.-15 others(34): Show c.-15+21799_-15+21813dupTTTTTTTTTTTTTTT		KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9						chr15	TogoVar
KAZN_chr1_14593685_15123043	14868060	A A	AGCATCGC others(8): Show AGCATCGCATACGCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(46): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00642.hp1 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG02040.hp2 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG03017.hp1 HG03225.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp1 NA18612.hp2 NA18971.hp1 NA18971.hp2 NA19005.hp1 NA19005.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0001 a0001c0003 a0001c0012 others(9): Show a0001c0001 a0001c0003 a0001c0012 a0001c0018 a0002c0002 a0002c0004 a0002c0006 a0003c0005 a0003c0017 a0004c0016 a0005c0015 a0008c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0003t0002 a0001c0003t0004 a0001c0012t0006 a0001c0018t0014 a0002c0002t0001 a0002c0004t0001 a0002c0004t0024 a0002c0006t0006 a0003c0005t0002 a0003c0017t0002 a0004c0016t0002 a0005c0015t0013 a0008c0014t0005	a0001c0001t0001g0052 a0001c0001t0001g0068 a0001c0001t0002g0007 others(46): Show a0001c0001t0001g0052 a0001c0001t0001g0068 a0001c0001t0002g0007 a0001c0001t0002g0046 a0001c0001t0002g0060 a0001c0001t0002g0092 a0001c0001t0002g0101 a0001c0001t0002g0122 a0001c0001t0002g0137 a0001c0001t0002g0145 a0001c0001t0003g0018 a0001c0001t0004g0063 a0001c0001t0005g0070 a0001c0001t0007g0021 a0001c0001t0007g0087 a0001c0001t0008g0142 a0001c0001t0010g0040 a0001c0001t0015g0080 a0001c0001t0016g0096 a0001c0001t0025g0093 a0001c0003t0002g0002 a0001c0003t0002g0082 a0001c0003t0004g0094 a0001c0012t0006g0069 a0001c0018t0014g0140 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0031 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0071 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0084 a0002c0002t0001g0117 a0002c0002t0001g0126 a0002c0004t0001g0089 a0002c0004t0001g0113 a0002c0004t0024g0059 a0002c0006t0006g0012 a0002c0006t0006g0112 a0003c0005t0002g0091 a0003c0005t0002g0100 a0003c0017t0002g0019 a0004c0016t0002g0022 a0005c0015t0013g0121 a0008c0014t0005g0097	49	146	0.3356	15	c.227 others(34): Show c.227-92620_227-92619insCGCATACGCAGGCAT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883340	G G	GAGAGAAA others(8): Show GAGAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	146	0.0069	15	c.227 others(34): Show c.227-77341_227-77340insGAAAGAAAGAAAAGA		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883355	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	146	0.0069	15	c.227 others(34): Show c.227-77327_227-77326insGAAAGAAAGAAAGAA		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14949155	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	146	0.0069	15	c.227 others(34): Show c.227-11508_227-11494dupTAATAATAATAATAA		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14976120	C C	CACAGCCG others(8): Show CACAGCCGCACACTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp1 HG01167.hp2 others(19): Show HG00735.hp2 HG01099.hp1 HG01167.hp2 HG01891.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02109.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02886.hp2 HG02922.hp1 HG03041.hp2 HG03209.hp1 NA18963.hp1 NA19005.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0001c0013 others(1): Show a0001c0001 a0001c0008 a0001c0013 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0027 a0001c0008t0009 a0001c0013t0021 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0075 a0001c0001t0002g0006 a0001c0001t0002g0007 others(19): Show a0001c0001t0001g0075 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0137 a0001c0001t0003g0135 a0001c0001t0003g0139 a0001c0001t0004g0064 a0001c0001t0009g0115 a0001c0001t0011g0118 a0001c0001t0017g0023 a0001c0001t0019g0029 a0001c0001t0020g0045 a0001c0001t0023g0127 a0001c0001t0027g0016 a0001c0008t0009g0120 a0001c0013t0021g0051 a0002c0002t0001g0071 a0002c0002t0001g0081 a0002c0002t0001g0128 a0002c0002t0005g0037	22	146	0.1507	15	c.418 others(34): Show c.418+15245_418+15246insACAGCCGCACACTGT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	2/14						chr1	TogoVar
KAZN_chr1_14593685_15123043	14983523	G G	GGGAGTCT others(8): Show GGGAGTCTAGTTCCAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	146	0.0069	15	c.418 others(34): Show c.418+22652_418+22653insTCTAGTTCCATGGAG		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15031553	G G	GTGTGTTG others(8): Show GTGTGTTGTGTTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01071.hp2 HG01099.hp2 others(25): Show HG00621.hp1 HG01071.hp2 HG01099.hp2 HG01255.hp2 HG01891.hp2 HG02004.hp1 HG02040.hp1 HG02083.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp2 HG02647.hp2 HG02738.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG03209.hp1 HG03654.hp2 NA18906.hp2 NA18963.hp2 NA18970.hp1 NA18970.hp2 NA19005.hp1 NA19056.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0008 a0001c0013 others(5): Show a0001c0001 a0001c0008 a0001c0013 a0002c0002 a0002c0004 a0002c0007 a0006c0009 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020 a0001c0001t0023 a0001c0008t0009 a0001c0013t0021 a0002c0002t0001 a0002c0002t0012 a0002c0004t0001 a0002c0007t0001 a0006c0009t0001 a0007c0011t0026	a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0002g0090 others(25): Show a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0002g0090 a0001c0001t0002g0109 a0001c0001t0002g0130 a0001c0001t0003g0136 a0001c0001t0007g0111 a0001c0001t0010g0040 a0001c0001t0011g0118 a0001c0001t0020g0045 a0001c0001t0023g0127 a0001c0008t0009g0120 a0001c0013t0021g0051 a0002c0002t0001g0004 a0002c0002t0001g0017 a0002c0002t0001g0027 a0002c0002t0001g0057 a0002c0002t0001g0061 a0002c0002t0001g0071 a0002c0002t0001g0085 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0012g0098 a0002c0004t0001g0032 a0002c0004t0001g0113 a0002c0007t0001g0001 a0006c0009t0001g0034 a0007c0011t0026g0132	28	146	0.1918	15	c.419 others(32): Show c.419-3163_419-3149dupTGTTGTGTTGTGTTG		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15046297	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02572.hp1 others(2): Show HG02055.hp1 HG02257.hp1 HG02572.hp1 HG02738.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0008 a0001c0003t0002 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0003t0002 a0002c0002t0001	a0001c0001t0002g0006 a0001c0001t0008g0030 a0001c0003t0002g0002 others(2): Show a0001c0001t0002g0006 a0001c0001t0008g0030 a0001c0003t0002g0002 a0002c0002t0001g0126 a0002c0002t0001g0143	5	146	0.0343	15	c.726 others(32): Show c.726+2148_726+2149insAAAAAAAAAAAAAAA		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15050073	G G	GAGTACAG others(8): Show GAGTACAGTAGAGTAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0126	1	146	0.0069	15	c.726 others(32): Show c.726+5918_726+5919insCAGTAGAGTACAGTA		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15050159	G G	GGAATAGA others(8): Show GGAATAGAATAGAATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01516.hp2 HG02109.hp2 others(2): Show HG01255.hp1 HG01516.hp2 HG02109.hp2 HG02622.hp2 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0002 a0001c0001 a0001c0012 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0012t0006 a0002c0002t0001	a0001c0001t0003g0135 a0001c0001t0004g0064 a0001c0001t0005g0070 others(2): Show a0001c0001t0003g0135 a0001c0001t0004g0064 a0001c0001t0005g0070 a0001c0012t0006g0069 a0002c0002t0001g0027	5	146	0.0343	15	c.727 others(32): Show c.727-5883_727-5869dupTAGAATAGAATAGAA		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1987725	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02738.hp1 HG01175.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0361 a0001c0001t0009g0362 a0001c0001t0009g0361 a0001c0001t0009g0362	2	389	0.0051	15	c.-90 others(36): Show c.-908-12549_-908-12535dupTATTATTATTATTAT		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1993959	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	389	0.0026	15	c.-90 others(34): Show c.-908-6326_-908-6325insCACACACACACACAC		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1						chr8	TogoVar
KBTBD11_chr8_1968677_2011936	2001013	A A	AGAAGCTG others(8): Show AGAAGCTGAAGAAGAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0262 a0001c0001t0034g0262	1	389	0.0026	15	c.-17 others(24): Show c.-179_-178insAAGCTGAAGAAGAGG		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	2/2				178	INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD2_chr7_32863172_32896760	32891887	G G	GCCGCCCC others(8): Show GCCGCCCCCGCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01255.hp1 HG02735.hp2 others(3): Show HG00408.hp2 HG01255.hp1 HG02735.hp2 HG03927.hp1 HG06807.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0003g0104 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0003g0104 a0001c0001t0010g0047	6	434	0.0138	15	c.-69 others(24): Show c.-691_-690insGGGCGGCGGGGGCGG		KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding					128		chr7	TogoVar
KBTBD3_chr11_106046098_106082347	106058753	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0211 a0001c0001t0014g0211	1	366	0.0027	15	c.233 others(30): Show c.233+111_233+112insTAAAAAAAAAAAAAA		KBTBD3	ENSG00000182359.15	transcript	ENST00000531837.2	protein_coding	3/3						chr11	TogoVar
KCMF1_chr2_84966161_85064472	84974691	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	274	0.0037	15	c.16+ others(30): Show c.16+3225_16+3226insATATATATATATATT		KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	85026492	A A	ATTATTAT others(8): Show ATTATTATTATTATTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0003	1	274	0.0037	15	c.17- others(30): Show c.17-1392_17-1391insATTATTATTTTTATT		KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	85026492	A A	ATTATTAT others(8): Show ATTATTATTATTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0070 a0001c0002t0070	a0001c0002t0070g0188 a0001c0002t0070g0188	1	274	0.0037	15	c.17- others(30): Show c.17-1392_17-1391insATTATTTTTTTTATT		KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	85026492	A A	ATTATTAT others(8): Show ATTATTATTTTTATTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0193 a0001c0001t0069g0193	1	274	0.0037	15	c.17- others(30): Show c.17-1392_17-1391insATTTTTATTTTTATT		KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	85051432	T T	TTTTTTTG others(8): Show TTTTTTTGCCCTATCC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0235 a0001c0001t0003g0235	1	274	0.0037	15	c.885 others(32): Show c.885-1710_885-1709insGCCCTATCCTTTTTT		KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNA3_chr1_110667465_110679940	110674559	T T	TCGCAGCC others(8): Show TCGCAGCCGCCGCCGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0000 a0003c0005t0002g0000	1	432	0.0023	15	c.236 others(22): Show c.236_250dupGCGGCGGCGGCTGCG	p.Gly others(11): Show p.Gly79_Cys83dup	KCNA3	ENSG00000177272.10	transcript	ENST00000369769.4	protein_coding	1/1	381/2476	250/1728	84/575			chr1	TogoVar
KCNA5_chr12_5038879_5051788	5049286	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01433.hp1 HG00735.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0006t0003 a0001c0001t0003 a0001c0006t0003	a0001c0001t0003g0000 a0001c0006t0003g0000 a0001c0001t0003g0000 a0001c0006t0003g0000	2	452	0.0044	15	c.32 others(26): Show c.3297_*3298insAAAAAAAAAAAAAAA		KCNA5	ENSG00000130037.5	transcript	ENST00000252321.5	protein_coding					2499		chr12	TogoVar
KCNAB1_chr3_156115578_156543605	156139584	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0008 a0004c0008t0008	a0004c0008t0008g0051 a0004c0008t0008g0051	1	124	0.0081	15	c.275 others(34): Show c.275+18710_275+18724dupTTTTTTTTTTTTTTT		KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results