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
KDM2A_chr11_67114263_67263082	67247034	ATTTTATA others(35): Show ATTTTATATATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	216	0.0046	-42	c.196 others(59): Show c.1965+923_1965+964delATATATATATATATATATATATATATAT ATATATTTTTTTTT		KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1217_chr10_24204138_24552843	24538586	AAGGAAGG others(35): Show AAGGAAGGAAGGAAGGAAGGAAAAAGAGAGGAAGGAAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01081.hp1 HG01081.hp2 others(4): Show HG00408.hp2 HG01081.hp1 HG01081.hp2 HG02451.hp2 HG03195.hp1 NA19000.hp2 NA19086.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0036 others(2): Show a0001c0001 a0002c0002 a0002c0036 a0003c0053 a0003c0055	a0001c0001t0001 a0002c0002t0001 a0002c0036t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0036t0001 a0003c0053t0003 a0003c0055t0001	a0001c0001t0001g0136 a0002c0002t0001g0164 a0002c0002t0001g0172 others(4): Show a0001c0001t0001g0136 a0002c0002t0001g0164 a0002c0002t0001g0172 a0002c0002t0001g0175 a0002c0036t0001g0205 a0003c0053t0003g0134 a0003c0055t0001g0126	7	238	0.0294	-42	c.353 others(61): Show c.3534+1703_3534+1744delGGAAGGAAGGAAAAAGAGAGGAAGGA AAAAGAGAGGAAGGAA		KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA1549L_chr11_33371108_33679102	33614550	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp2 HG02922.hp1 HG01884.hp2 HG02572.hp2 HG02922.hp1	a0003 a0003	a0003c0032 a0003c0047 a0003c0032 a0003c0047	a0003c0032t0035 a0003c0032t0076 a0003c0047t0030 a0003c0032t0035 a0003c0032t0076 a0003c0047t0030	a0003c0032t0035g0120 a0003c0032t0076g0065 a0003c0047t0030g0070 a0003c0032t0035g0120 a0003c0032t0076g0065 a0003c0047t0030g0070	3	215	0.0140	-42	c.528 others(61): Show c.5280-3981_5280-3940delATATATATATATATATATATATATAT ATATATATTTTTTTTT		KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33614552	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0013 a0001c0023t0003g0013	1	221	0.0045	-42	c.528 others(61): Show c.5280-3979_5280-3938delATATATATATATATATATATATATAT ATATATTTTTTTTTTT		KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33641572	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02280.hp2 others(21): Show HG01884.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02922.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp2 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0006 a0014 others(2): Show a0001 a0006 a0014 a0017 a0018	a0001c0008 a0001c0009 a0001c0010 others(13): Show a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0020 a0001c0023 a0001c0026 a0001c0035 a0001c0052 a0001c0053 a0001c0073 a0006c0048 a0014c0045 a0017c0054 a0018c0094	a0001c0008t0001 a0001c0008t0003 a0001c0009t0011 others(17): Show a0001c0008t0001 a0001c0008t0003 a0001c0009t0011 a0001c0009t0069 a0001c0010t0002 a0001c0011t0001 a0001c0013t0002 a0001c0013t0010 a0001c0020t0003 a0001c0023t0003 a0001c0026t0064 a0001c0035t0072 a0001c0035t0074 a0001c0052t0073 a0001c0053t0052 a0001c0073t0002 a0006c0048t0010 a0014c0045t0001 a0017c0054t0001 a0018c0094t0009	a0001c0008t0001g0083 a0001c0008t0003g0004 a0001c0008t0003g0074 others(21): Show a0001c0008t0001g0083 a0001c0008t0003g0004 a0001c0008t0003g0074 a0001c0008t0003g0077 a0001c0008t0003g0095 a0001c0008t0003g0096 a0001c0009t0011g0097 a0001c0009t0069g0098 a0001c0010t0002g0145 a0001c0011t0001g0107 a0001c0013t0002g0139 a0001c0013t0010g0102 a0001c0020t0003g0069 a0001c0023t0003g0013 a0001c0026t0064g0012 a0001c0035t0072g0014 a0001c0035t0074g0010 a0001c0052t0073g0084 a0001c0053t0052g0087 a0001c0073t0002g0199 a0006c0048t0010g0078 a0014c0045t0001g0081 a0017c0054t0001g0082 a0018c0094t0009g0007	24	28	0.8571	-42	c.541 others(61): Show c.5410-4093_5410-4052delTATATATATATATATATATATATATA TATATATATATATATA		KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	16/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
KIF1A_chr2_240708767_240825219	240781431	CCACACAC others(35): Show CCACACACACACACACACACACACACACAGCTCCACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0027 a0001c0006t0005g0027	1	258	0.0039	-42	c.882 others(59): Show c.882+1117_882+1158delTGTGTGTGTGGAGCTGTGTGTGTGTGTG TGTGTGTGTGTGTG		KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48						chr2	TogoVar
KIF4A_chrX_70285104_70425886	70393827	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp2 HG02559.hp2 others(8): Show HG01074.hp1 HG01175.hp2 HG02559.hp2 HG03490.hp1 HG03516.hp2 HG03834.hp2 HG06807.hp1 NA18977.hp1 NA19030.hp2 NA19043.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0001c0001t0001 a0001c0002t0001 a0001c0008t0001	a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0021 others(8): Show a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0156 a0001c0001t0001g0173 a0001c0001t0001g0198 a0001c0002t0001g0182 a0001c0008t0001g0241 a0001c0008t0001g0242	11	257	0.0428	-42	c.223 others(61): Show c.2233-1842_2233-1801delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCT		KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	20/30					INFO_REALIGN_3_PRIME	chrX	TogoVar
KIF6_chr6_39324990_39730408	39523645	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0149 a0001c0001t0004g0149	1	7	0.1429	-42	c.164 others(63): Show c.1645+16316_1645+16357delATATATATATATATATATATATAT ATATATATATATATATAT		KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	13/22						chr6	TogoVar
KLF17_chr1_44113821_44140140	44139383	TTCTGGTT others(35): Show TTCTGGTTACCAGTGGAGGTCATCATCTGCCCCCAGTAGAGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp2 others(25): Show HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG01074.hp1 HG01081.hp2 HG01358.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG01981.hp1 HG02165.hp1 HG02523.hp1 HG03710.hp1 NA18747.hp2 NA18949.hp1 NA18953.hp2 NA18960.hp1 NA18967.hp2 NA18990.hp2 NA19000.hp2 NA19065.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19089.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0007 a0003c0003 a0006c0007	a0003c0003t0003 a0003c0003t0018 a0006c0007t0001 a0003c0003t0003 a0003c0003t0018 a0006c0007t0001	a0003c0003t0003g0014 a0003c0003t0003g0032 a0003c0003t0003g0033 others(17): Show a0003c0003t0003g0014 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0047 a0003c0003t0003g0048 a0003c0003t0003g0066 a0003c0003t0003g0097 a0003c0003t0003g0098 a0003c0003t0003g0099 a0003c0003t0003g0101 a0003c0003t0003g0109 a0003c0003t0003g0111 a0003c0003t0003g0152 a0003c0003t0003g0173 a0003c0003t0003g0174 a0003c0003t0003g0175 a0003c0003t0003g0176 a0003c0003t0018g0100 a0006c0007t0001g0236	28	442	0.0633	-42	c.61 others(53): Show c.6147_*6188delTCTGGTTACCAGTGGAGGTCATCATCTGCCCCCA GTAGAGGG		KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding					4244		chr1	TogoVar
KLF17_chr1_44113821_44140140	44139587	TAGAGGGC others(35): Show TAGAGGGCCTGGTTACCAGTGGAGGTTGTCATCTGCTCTCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	442	0.0023	-42	c.63 others(53): Show c.6351_*6392delAGAGGGCCTGGTTACCAGTGGAGGTTGTCATCTG CTCTCCAC		KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding					4448		chr1	TogoVar
KLF17_chr1_44113821_44140140	44139729	TAGCAGAG others(35): Show TAGCAGAGGTTGTCATCTGCCCCCCGTAGAGGGCCTGGTTACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	442	0.0023	-42	c.64 others(53): Show c.6493_*6534delAGCAGAGGTTGTCATCTGCCCCCCGTAGAGGGCC TGGTTACC		KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding					4590		chr1	TogoVar
KLF18_chr1_44132821_44146631	44139383	TTCTGGTT others(35): Show TTCTGGTTACCAGTGGAGGTCATCATCTGCCCCCAGTAGAGGG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(28): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG01074.hp2 HG01081.hp2 HG01192.hp1 HG01192.hp2 HG01358.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp1 HG01981.hp1 HG02165.hp2 HG02523.hp1 HG03710.hp1 NA18747.hp2 NA18949.hp2 NA18953.hp1 NA18960.hp2 NA18967.hp1 NA18990.hp2 NA19000.hp1 NA19054.hp2 NA19059.hp2 NA19065.hp1 NA19077.hp2 NA19078.hp1 NA19086.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0002c0023 a0011c0011 a0002c0002 a0002c0023 a0011c0011	a0002c0002t0001 a0002c0023t0001 a0011c0011t0001 a0002c0002t0001 a0002c0023t0001 a0011c0011t0001	a0002c0002t0001g0002 a0002c0023t0001g0024 a0011c0011t0001g0011 a0002c0002t0001g0002 a0002c0023t0001g0024 a0011c0011t0001g0011	31	426	0.0728	-42	c.220 others(51): Show c.2207_2248delCCCTCTACTGGGGGCAGATGATGACCTCCACTGGTA ACCAGA	p.Thr others(13): Show p.Thr736_Gln749del	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	2248/3159	2207/3159	736/1052			chr1	TogoVar
KLF18_chr1_44132821_44146631	44139587	TAGAGGGC others(35): Show TAGAGGGCCTGGTTACCAGTGGAGGTTGTCATCTGCTCTCCAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18984.hp2 NA18984.hp2	a0021 a0021	a0021c0029 a0021c0029	a0021c0029t0001 a0021c0029t0001	a0021c0029t0001g0030 a0021c0029t0001g0030	1	426	0.0023	-42	c.200 others(51): Show c.2003_2044delGTGGAGAGCAGATGACAACCTCCACTGGTAACCAGG CCCTCT	p.Cys others(13): Show p.Cys668_Leu681del	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	2044/3159	2003/3159	668/1052			chr1	TogoVar
KLF18_chr1_44132821_44146631	44139729	TAGCAGAG others(35): Show TAGCAGAGGTTGTCATCTGCCCCCCGTAGAGGGCCTGGTTACC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18984.hp2 NA18984.hp2	a0021 a0021	a0021c0029 a0021c0029	a0021c0029t0001 a0021c0029t0001	a0021c0029t0001g0030 a0021c0029t0001g0030	1	426	0.0023	-42	c.186 others(51): Show c.1861_1902delGGTAACCAGGCCCTCTACGGGGGGCAGATGACAACC TCTGCT	p.Gly others(13): Show p.Gly621_Ala634del	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	1902/3159	1861/3159	621/1052			chr1	TogoVar
KLF18_chr1_44132821_44146631	44140851	GGGTCTGG others(35): Show GGGTCTGGTTACCAGTGGAGGTCGTCATCTGTCTCCCGTAGAA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00280.hp1 HG01261.hp2 HG01978.hp1 others(16): Show HG00280.hp1 HG01261.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02148.hp2 HG02293.hp1 NA18939.hp2 NA18943.hp1 NA18951.hp2 NA18962.hp1 NA18965.hp2 NA18975.hp1 NA18981.hp2 NA18994.hp1 NA18995.hp2 NA19007.hp2 NA19060.hp1 NA19070.hp1	a0005 a0009 a0020 a0005 a0009 a0020	a0005c0005 a0009c0009 a0020c0018 a0005c0005 a0009c0009 a0020c0018	a0005c0005t0001 a0009c0009t0001 a0020c0018t0001 a0005c0005t0001 a0009c0009t0001 a0020c0018t0001	a0005c0005t0001g0005 a0009c0009t0001g0009 a0020c0018t0001g0018 a0005c0005t0001g0005 a0009c0009t0001g0009 a0020c0018t0001g0018	19	426	0.0446	-42	c.739 others(49): Show c.739_780delTTCTACGGGAGACAGATGACGACCTCCACTGGTAACCA GACC	p.Phe others(13): Show p.Phe247_Thr260del	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	780/3159	739/3159	247/1052			chr1	TogoVar
KLF6_chr10_3770996_3790209	3773310	GTATATAT others(35): Show GTATATATATATTTGTATATGTATATATATATTTGTATATGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG01070.hp2 others(28): Show HG00099.hp1 HG00558.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01433.hp2 HG01928.hp2 HG01952.hp2 HG02040.hp1 NA18950.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18982.hp1 NA18985.hp1 NA18991.hp2 NA18992.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19056.hp2 NA19067.hp2 NA19074.hp1 NA19077.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0038 others(2): Show a0001c0001t0005 a0001c0001t0014 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044	a0001c0001t0005g0004 a0001c0001t0005g0049 a0001c0001t0014g0015 others(3): Show a0001c0001t0005g0004 a0001c0001t0005g0049 a0001c0001t0014g0015 a0001c0001t0038g0056 a0001c0001t0043g0057 a0001c0001t0044g0058	31	454	0.0683	-42	c.61 others(53): Show c.6187_*6228delTACATATACAAATATATATATACATATACAAATA TATATATA		KLF6	ENSG00000067082.15	transcript	ENST00000497571.6	protein_coding					2685		chr10	TogoVar
KLHDC4_chr16_87702812_87770986	87739486	CGTCATCC others(35): Show CGTCATCCATCCACACACCAGCACCTCATCCACACACCAGCAT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0344 a0002c0002t0001g0344	1	339	0.0029	-42	c.507 others(59): Show c.507-8884_507-8843delATGCTGGTGTGTGGATGAGGTGCTGGTG TGTGGATGGATGAC		KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11						chr16	TogoVar
KLHL15_chrX_23978720_24032186	23979562	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 NA18943.hp1 NA18957.hp1 others(7): Show HG02056.hp1 NA18943.hp1 NA18957.hp1 NA18966.hp1 NA18970.hp1 NA18975.hp2 NA18978.hp1 NA19012.hp1 NA19080.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0085 others(7): Show a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0113 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0139 a0003c0005t0001g0253	10	275	0.0364	-42	c.83 others(53): Show c.8317_*8358delATATATATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTT		KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding					4157		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23979564	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00673.hp1 others(29): Show HG00423.hp2 HG00558.hp2 HG00673.hp1 HG02004.hp1 HG02165.hp2 HG02273.hp1 HG04115.hp1 HG04199.hp1 NA18747.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18959.hp1 NA18964.hp1 NA18967.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18992.hp1 NA18999.hp2 NA19004.hp1 NA19057.hp2 NA19065.hp1 NA19067.hp1 NA19072.hp1 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0015 others(29): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0144 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0018g0098	32	274	0.1168	-42	c.83 others(53): Show c.8315_*8356delATATATATATATATATATTTTTTTTTTTTTTTTT TTTTTTTT		KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding					4155		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23979566	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02683.hp2 HG04228.hp1 others(7): Show HG01978.hp2 HG02683.hp2 HG04228.hp1 NA18965.hp1 NA18969.hp2 NA18979.hp1 NA19000.hp1 NA19070.hp1 NA19089.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0042 a0001c0001t0001g0090 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0042 a0001c0001t0001g0090 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0145 a0001c0001t0001g0255 a0001c0001t0001g0260	10	277	0.0361	-42	c.83 others(53): Show c.8313_*8354delATATATATATATATATATATTTTTTTTTTTTTTT TTTTTTTT		KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding					4153		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23979568	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	277	0.0036	-42	c.83 others(53): Show c.8311_*8352delATATATATATATATATATATATTTTTTTTTTTTT TTTTTTTT		KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding					4151		chrX	TogoVar
KLHL1_chr13_69695597_70113452	69780691	TATATATA others(35): Show TATATATATATGTATATATATATATGTATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	180	0.0056	-42	c.163 others(63): Show c.1639+16005_1639+16046delGTATATATATATATATACATATAT ATATATACATATATATAT		KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	7/10						chr13	TogoVar
KLK7_chr19_50971468_50988917	50974985	GGGAGTCT others(35): Show GGGAGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGCGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03130.hp1 HG02055.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0064 a0001c0001t0002g0068	2	380	0.0053	-42	c.25 others(53): Show c.2509_*2550delGCCGCCAGCCCCTCCTCCCTCAGACCCAGGAATC CAGACTCC		KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding					1482		chr19	TogoVar
KMT2C_chr7_152129925_152441003	152297039	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGACAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19066.hp2 NA20300.hp2 HG03471.hp2 NA19066.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0062	3	169	0.0178	-42	c.849 others(61): Show c.849+12885_849+12926delCTCTCTCTCTCTCTCTCTCTCTCTCT GTCTTTCTTTCTTTCT		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58						chr7	TogoVar
KMT2D_chr12_49013978_49065794	49039131	GATTAGTG others(35): Show GATTAGTGATACAGGAAAATCACAAGAGCTTCCAACAGTGATA	G G	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0112 a0001c0003t0002g0112	1	300	0.0033	-42	c.836 others(57): Show c.8366+49_8366+90delTATCACTGTTGGAAGCTCTTGTGATTTTCC TGTATCACTAAT		KMT2D	ENSG00000167548.18	transcript	ENST00000301067.12	protein_coding	34/54						chr12	TogoVar
KMT5C_chr19_55334876_55353121	55338513	TCTCTCTC others(35): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 NA19043.hp2 HG02723.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0109 a0001c0001t0001g0044 a0001c0001t0001g0109	2	402	0.0050	-42	c.-15 others(53): Show c.-1587_-1546delCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCACA		KMT5C	ENSG00000133247.14	transcript	ENST00000255613.8	protein_coding					1362		chr19	TogoVar
KNDC1_chr10_133155219_133231412	133190265	CAAACACC others(35): Show CAAACACCCTGCAATAAGCACCCTGCGCTAACCACCCTGCATT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01071.hp1 others(24): Show HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01243.hp1 HG01891.hp1 HG02145.hp1 HG02647.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0011 a0003c0015 a0003c0032 others(5): Show a0003c0011 a0003c0015 a0003c0032 a0003c0034 a0006c0010 a0006c0019 a0007c0009 a0007c0047	a0003c0011t0001 a0003c0015t0002 a0003c0032t0008 others(7): Show a0003c0011t0001 a0003c0015t0002 a0003c0032t0008 a0003c0034t0001 a0006c0010t0001 a0006c0010t0023 a0006c0019t0003 a0007c0009t0001 a0007c0009t0002 a0007c0047t0001	a0003c0011t0001g0027 a0003c0011t0001g0055 a0003c0011t0001g0145 others(24): Show a0003c0011t0001g0027 a0003c0011t0001g0055 a0003c0011t0001g0145 a0003c0011t0001g0146 a0003c0011t0001g0209 a0003c0011t0001g0247 a0003c0011t0001g0248 a0003c0015t0002g0236 a0003c0032t0008g0305 a0003c0034t0001g0309 a0006c0010t0001g0044 a0006c0010t0001g0047 a0006c0010t0001g0048 a0006c0010t0001g0049 a0006c0010t0001g0050 a0006c0010t0001g0239 a0006c0010t0023g0021 a0006c0019t0003g0274 a0006c0019t0003g0275 a0007c0009t0001g0002 a0007c0009t0001g0045 a0007c0009t0001g0046 a0007c0009t0001g0130 a0007c0009t0001g0132 a0007c0009t0001g0133 a0007c0009t0002g0131 a0007c0047t0001g0002	27	330	0.0818	-42	c.157 others(59): Show c.1575+465_1575+506delATAAGCACCCTGCGCTAACCACCCTGCA TTAAACACCCTGCA		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	9/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133221835	CGGGCTGG others(35): Show CGGGCTGGGTGCAGCCACTCACGCCTGTAACCCTAGGTGGGCA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02976.hp1 others(1): Show HG02895.hp2 HG02896.hp2 HG02976.hp1 NA19030.hp1	a0011 a0011	a0011c0020 a0011c0025 a0011c0020 a0011c0025	a0011c0020t0002 a0011c0025t0002 a0011c0020t0002 a0011c0025t0002	a0011c0020t0002g0257 a0011c0020t0002g0258 a0011c0025t0002g0241 others(1): Show a0011c0020t0002g0257 a0011c0020t0002g0258 a0011c0025t0002g0241 a0011c0025t0002g0242	4	330	0.0121	-42	c.501 others(61): Show c.5018+1761_5018+1802delGGGCAGGGCTGGGTGCAGCCACTCAC GCCTGTAACCCTAGGT		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133221873	GGGCAGGG others(35): Show GGGCAGGGCTGGGTGCAGCCACTCACGCCTGTAACCCTAGGTA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA19030.hp2 HG00735.hp2 NA19030.hp2	a0003 a0029 a0003 a0029	a0003c0049 a0029c0064 a0003c0049 a0029c0064	a0003c0049t0002 a0029c0064t0001 a0003c0049t0002 a0029c0064t0001	a0003c0049t0002g0111 a0029c0064t0001g0138 a0003c0049t0002g0111 a0029c0064t0001g0138	2	330	0.0061	-42	c.501 others(61): Show c.5018+1765_5018+1806delAGGGCTGGGTGCAGCCACTCACGCCT GTAACCCTAGGTAGGC		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133221877	AGGGCTGG others(35): Show AGGGCTGGGTGCAGCCACTCACGCCTGTAACCCTAGGTAGGCC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02027.hp1 HG02027.hp2 others(12): Show HG01109.hp1 HG02027.hp1 HG02027.hp2 HG02148.hp1 HG02293.hp2 NA18945.hp1 NA18966.hp1 NA18974.hp2 NA18981.hp1 NA18995.hp2 NA19010.hp2 NA19067.hp2 NA19081.hp2 NA19086.hp2 NA19091.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0017 a0001c0001 a0009c0017	a0001c0001t0001 a0009c0017t0001 a0001c0001t0001 a0009c0017t0001	a0001c0001t0001g0037 a0001c0001t0001g0165 a0001c0001t0001g0167 others(12): Show a0001c0001t0001g0037 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0227 a0001c0001t0001g0255 a0009c0017t0001g0064	15	270	0.0556	-42	c.501 others(61): Show c.5018+1803_5018+1844delAGGCCGGGCTGGGTGCAGCCACTCAC GCCTGTAACCCTAGGT		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133221915	AGGCCGGG others(35): Show AGGCCGGGCTGGGTGCAGCCACTCACGCCTGTAACCCTAGGTG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18961.hp1 HG03098.hp1 NA18961.hp1	a0001 a0001	a0001c0008 a0001c0038 a0001c0008 a0001c0038	a0001c0008t0001 a0001c0038t0003 a0001c0008t0001 a0001c0038t0003	a0001c0008t0001g0269 a0001c0038t0003g0267 a0001c0008t0001g0269 a0001c0038t0003g0267	2	280	0.0071	-42	c.501 others(61): Show c.5018+1854_5018+1895delTGGGTGCAGCCACTCACGCCTGTAAC CCTAGGTGGGCCGGGC		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133223369	GTGTGTGT others(35): Show GTGTGTGTCTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03209.hp1 HG03540.hp2 others(4): Show HG02965.hp2 HG03209.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA19043.hp2	a0006 a0007 a0006 a0007	a0006c0010 a0007c0009 a0006c0010 a0007c0009	a0006c0010t0001 a0006c0010t0023 a0007c0009t0001 a0006c0010t0001 a0006c0010t0023 a0007c0009t0001	a0006c0010t0001g0044 a0006c0010t0001g0048 a0006c0010t0001g0049 others(4): Show a0006c0010t0001g0044 a0006c0010t0001g0048 a0006c0010t0001g0049 a0006c0010t0001g0050 a0006c0010t0001g0239 a0006c0010t0023g0021 a0007c0009t0001g0045	7	330	0.0212	-42	c.501 others(61): Show c.5019-1282_5019-1241delCTGTGAGAGCCCATCCAGGCATGCTC TTCCCGGCATGTGTGT		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KPNA7_chr7_99168572_99213115	99181033	GTGTGTCT others(35): Show GTGTGTCTCTCTCTCTCTCTCCGTCTGTGTCTCTCTCTCCATC	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03654.hp1 HG04204.hp2 HG01346.hp1 HG03654.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0060 a0001c0001t0001g0275 a0001c0001t0001g0276	3	318	0.0094	-42	c.131 others(59): Show c.1317+808_1317+849delGATGGAGAGAGAGACACAGACGGAGAGA GAGAGAGAGACACA		KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10						chr7	TogoVar
KRT18_chr12_52944118_52957906	52952596	GGAGGAAG others(35): Show GGAGGAAGAGGCTGAGGGTGATTTGGAGATAAAGGTAGAGGTC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02280.hp2 others(17): Show HG01109.hp2 HG02109.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0005g0005 a0001c0001t0001g0005 a0001c0001t0005g0005	20	406	0.0493	-42	c.117 others(58): Show c.1173-125_1173-84delGAGGAAGAGGCTGAGGGTGATTTGGAGAT AAAGGTAGAGGTC		KRT18	ENSG00000111057.11	transcript	ENST00000388835.4	protein_coding	6/6						chr12	TogoVar
KRT24_chr17_40692991_40708752	40701723	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02109.hp2 HG02647.hp2 others(7): Show HG01081.hp1 HG02109.hp2 HG02647.hp2 HG02818.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp1 NA18522.hp1 NA18906.hp1 NA21309.hp1	a0004 a0004	a0004c0005 a0004c0011 a0004c0005 a0004c0011	a0004c0005t0001 a0004c0011t0001 a0004c0005t0001 a0004c0011t0001	a0004c0005t0001g0022 a0004c0005t0001g0044 a0004c0005t0001g0088 others(1): Show a0004c0005t0001g0022 a0004c0005t0001g0044 a0004c0005t0001g0088 a0004c0011t0001g0043	10	77	0.1299	-42	c.698 others(56): Show c.698+86_698+127delTATATATATATATATATATATATATATATAT ATATATATATA		KRT24	ENSG00000167916.5	transcript	ENST00000264651.3	protein_coding	2/7						chr17	TogoVar
KRTAP5-11_chr11_71576855_71587875	71582738	TGGAGCCA others(35): Show TGGAGCCACAGCCCCCACAGCCAGAGCCACAGCCCCCACTGCC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00621.hp1 HG01167.hp2 HG01169.hp2 others(23): Show HG00621.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01515.hp2 HG01884.hp1 HG02145.hp2 HG02148.hp2 HG02280.hp2 HG02300.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp2 NA19043.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0002t0003 a0002c0004t0003 a0002c0002t0002 a0002c0002t0003 a0002c0004t0003	a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0004t0003g0000 a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0004t0003g0000	26	462	0.0563	-42	c.58_ others(47): Show c.58_99delGGCAGTGGGGGCTGTGGCTCTGGCTGTGGGGGCTGTGGCT CC	p.Gly others(11): Show p.Gly20_Ser33del	KRTAP5-11	ENSG00000204571.7	transcript	ENST00000398530.1	protein_coding	1/1	137/1021	58/471	20/156			chr11	TogoVar
KRTAP5-4_chr11_1615958_1627138	1621974	GGAGCCAC others(35): Show GGAGCCACAGCCCCCACAGCCGGAGCCACAGCCCCCACAGCCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00438.hp2 HG00609.hp1 others(46): Show HG00099.hp1 HG00438.hp2 HG00609.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG01952.hp1 HG02015.hp1 HG02056.hp1 HG02074.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp2 HG02622.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp2 HG03209.hp2 HG03579.hp2 HG04184.hp2 HG04204.hp1 NA18943.hp1 NA18947.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp2 NA18967.hp1 NA18973.hp1 NA18980.hp1 NA18984.hp2 NA19011.hp1 NA19056.hp2 NA19063.hp1 NA19066.hp1 NA19089.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0003c0007 a0005c0005 a0003c0003 a0003c0007 a0005c0005	a0003c0003t0003 a0003c0007t0003 a0005c0005t0003 others(1): Show a0003c0003t0003 a0003c0007t0003 a0005c0005t0003 a0005c0005t0004	a0003c0003t0003g0000 a0003c0007t0003g0000 a0005c0005t0003g0000 others(1): Show a0003c0003t0003g0000 a0003c0007t0003g0000 a0005c0005t0003g0000 a0005c0005t0004g0000	49	426	0.1150	-42	c.78_ others(48): Show c.78_119delTGGCTGTGGGGGCTGTGGCTCCGGCTGTGGGGGCTGTGG CTC	p.Gly others(11): Show p.Gly27_Ser40del	KRTAP5-4	ENSG00000241598.6	transcript	ENST00000399682.1	protein_coding	1/1	164/1181	78/687	26/228			chr11	TogoVar
KSR2_chr12_117448012_117973990	117692465	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02109.hp1 others(2): Show HG01168.hp2 HG01169.hp1 HG02109.hp1 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0001t0065 a0001c0002t0016 others(1): Show a0001c0001t0020 a0001c0001t0065 a0001c0002t0016 a0001c0002t0058	a0001c0001t0020g0147 a0001c0001t0065g0054 a0001c0002t0016g0008 others(2): Show a0001c0001t0020g0147 a0001c0001t0065g0054 a0001c0002t0016g0008 a0001c0002t0016g0009 a0001c0002t0058g0048	5	194	0.0258	-42	c.987 others(61): Show c.987-24849_987-24808delGTATATATATATATATATATATATAT ATATATATATATATAT		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	4/19						chr12	TogoVar
KSR2_chr12_117448012_117973990	117947187	AAAAGAAA others(35): Show AAAAGAAAGAAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03486.hp1 HG02572.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0013 a0001c0006t0018 a0001c0001t0013 a0001c0006t0018	a0001c0001t0013g0120 a0001c0006t0018g0081 a0001c0001t0013g0120 a0001c0006t0018g0081	2	173	0.0116	-42	c.180 others(61): Show c.180+20847_180+20888delCTTTCTTTCTTTCTTTCTTTCTTTTC TTTCTTTTCTTTCTTT		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	1/19						chr12	TogoVar
L3MBTL4_chr18_5949717_6419911	5958056	GAGAAGGA others(35): Show GAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02258.hp1 HG02976.hp1 others(1): Show HG02080.hp1 HG02258.hp1 HG02976.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0004 a0003c0005t0004 a0001c0001t0004 a0003c0005t0004	a0001c0001t0004g0055 a0001c0001t0004g0059 a0003c0005t0004g0085 others(1): Show a0001c0001t0004g0055 a0001c0001t0004g0059 a0003c0005t0004g0085 a0003c0005t0004g0086	4	86	0.0465	-42	c.167 others(61): Show c.1678-1711_1678-1670delTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTCCTTCT		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	18/18						chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	5958118	GAAGAAGA others(35): Show GAAGAAGAAGAAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG03195.hp1 others(3): Show HG01243.hp1 HG02559.hp2 HG03195.hp1 HG03486.hp1 HG04184.hp1 NA19009.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0004c0010	a0001c0001t0002 a0001c0004t0006 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0004t0006 a0002c0002t0001 a0004c0010t0002	a0001c0001t0002g0044 a0001c0004t0006g0074 a0002c0002t0001g0032 others(3): Show a0001c0001t0002g0044 a0001c0004t0006g0074 a0002c0002t0001g0032 a0002c0002t0001g0064 a0002c0002t0001g0073 a0004c0010t0002g0089	6	91	0.0659	-42	c.167 others(61): Show c.1678-1773_1678-1732delGTTCTTCTTCTTCTTCTTCTTCTTCT TCTTTTTCTTCTTCTT		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	18/18						chr18	TogoVar
LAMA2_chr6_128878138_129521566	128879459	ATATATAT others(35): Show ATATATATATATATATATGCCATTATATATATATATATGCCAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0002 a0004c0002t0002	a0004c0002t0002g0021 a0004c0002t0002g0021	1	66	0.0152	-42	c.-37 others(53): Show c.-3786_-3745delTATATATATATATATATGCCATTATATATATATA TATGCCAT		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding					3678		chr6	TogoVar
LAMP2_chrX_120421148_120474296	120429288	AGATTTTG others(35): Show AGATTTTGAGTTCTGGATTCAGACAGAACTGTGTTTAAATCTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp1 HG01168.hp2 HG01169.hp1 others(13): Show HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01496.hp1 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02559.hp1 HG02723.hp2 HG03041.hp1 HG03540.hp1 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 others(5): Show a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0002t0008 a0001c0002t0014 a0001c0002t0017 a0001c0002t0030 a0001c0002t0031	a0001c0001t0008g0188 a0001c0001t0008g0191 a0001c0001t0013g0014 others(10): Show a0001c0001t0008g0188 a0001c0001t0008g0191 a0001c0001t0013g0014 a0001c0001t0014g0176 a0001c0002t0008g0017 a0001c0002t0008g0038 a0001c0002t0008g0048 a0001c0002t0014g0040 a0001c0002t0014g0041 a0001c0002t0017g0035 a0001c0002t0017g0036 a0001c0002t0030g0037 a0001c0002t0031g0042	16	295	0.0542	-42	c.19 others(53): Show c.1993_*2034delAAGATTTAAACACAGTTCTGTCTGAATCCAGAAC TCAAAATC		LAMP2	ENSG00000005893.17	transcript	ENST00000200639.9	protein_coding	9/9				1993		chrX	TogoVar
LARGE1_chr22_33267509_33925476	33766907	CATATACA others(35): Show CATATACATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03453.hp1 NA18522.hp1 HG02559.hp2 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0019 a0001c0001 a0001c0009 a0001c0019	a0001c0001t0005 a0001c0009t0003 a0001c0019t0003 a0001c0001t0005 a0001c0009t0003 a0001c0019t0003	a0001c0001t0005g0028 a0001c0009t0003g0084 a0001c0019t0003g0025 a0001c0001t0005g0028 a0001c0009t0003g0084 a0001c0019t0003g0025	3	108	0.0278	-42	c.-82 others(59): Show c.-82-5391_-82-5350delATATATATATATATATATATATATATAT ATATATATGTATAT		LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14						chr22	TogoVar
LATS2_chr13_20968036_21066586	20969695	AAAATATA others(35): Show AAAATATATATATATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG03098.hp1 HG03209.hp1 HG02257.hp1 HG03098.hp1 HG03209.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0051 a0003c0005t0002g0073 a0003c0005t0002g0074 a0003c0005t0002g0051 a0003c0005t0002g0073 a0003c0005t0002g0074	3	299	0.0100	-42	c.51 others(53): Show c.5133_*5174delATATATATATATATATATATATATATATATATAT ATATATTT		LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding					3340		chr13	TogoVar
LCLAT1_chr2_30442246_30649225	30607845	CTGTGTGT others(35): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0106 a0001c0001t0005g0106	1	2	0.5000	-42	c.629 others(61): Show c.629-32258_629-32217delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT		LCLAT1	ENSG00000172954.14	transcript	ENST00000379509.8	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
LCN12_chr9_136947273_136960497	136953370	CCGGGCGC others(35): Show CCGGGCGCGGTCGCGCACACCTGTAATCCTAGCACTTTGGGGG	C C	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	380	0.0026	-42	c.252 others(57): Show c.252-328_252-287delGGGCGCGGTCGCGCACACCTGTAATCCTAG CACTTTGGGGGC		LCN12	ENSG00000184925.12	transcript	ENST00000371633.8	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
LCN12_chr9_136947273_136960497	136953378	GGTCGCGC others(35): Show GGTCGCGCACACCTGTAATCCTAGCACTTTGGGGGCCGGGCGC	G G	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	380	0.0026	-42	c.252 others(57): Show c.252-320_252-279delTCGCGCACACCTGTAATCCTAGCACTTTGG GGGCCGGGCGCG		LCN12	ENSG00000184925.12	transcript	ENST00000371633.8	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
LCTL_chr15_66542532_66570998	66568863	CACACACA others(35): Show CACACACACACACATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	415	0.0024	-42	c.-30 others(53): Show c.-3071_-3030delATATATATATATATATATATATATATATATGTGT GTGTGTGT		LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding					2866		chr15	TogoVar
LCTL_chr15_66542532_66570998	66568865	CACACACA others(35): Show CACACACACACATATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02717.hp2 HG02895.hp1 HG02451.hp2 HG02717.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0041 a0001c0001t0001g0129 a0001c0003t0002g0017 a0001c0001t0001g0041 a0001c0001t0001g0129 a0001c0003t0002g0017	3	341	0.0088	-42	c.-30 others(53): Show c.-3073_-3032delATATATATATATATATATATATATATATATATGT GTGTGTGT		LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding					2868		chr15	TogoVar

Search by Variant

Search

Search Results