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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KLHL1_chr13_69695597_70113452	69789017	CTCTATCT others(13): Show CTCTATCTATCTATCTATCTA	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02258.hp1 HG02809.hp2 others(4): Show HG01993.hp1 HG02258.hp1 HG02809.hp2 HG02818.hp2 HG02970.hp1 HG02970.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 a0001c0003t0001 a0001c0003t0006	a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0008g0074 others(4): Show a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0008g0074 a0001c0001t0008g0075 a0001c0001t0017g0129 a0001c0003t0001g0102 a0001c0003t0006g0044	7	182	0.0385	-20	c.163 others(39): Show c.1639+7701_1639+7720delTAGATAGATAGATAGATAGA	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	7/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	69855288	TTAGATAG others(13): Show TTAGATAGATAGATAGATAGA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03516.hp2 HG03453.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0013 a0001c0001t0007 a0001c0002t0013	a0001c0001t0007g0158 a0001c0002t0013g0174 a0001c0001t0007g0158 a0001c0002t0013g0174	2	182	0.0110	-20	c.122 others(41): Show c.1228-16146_1228-16127delTCTATCTATCTATCTATCTA	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	5/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	69855329	TAGATAGA others(13): Show TAGATAGATAGATAGATAGAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02615.hp1 others(4): Show HG02257.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02809.hp2 HG02897.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0003t0006	a0001c0001t0001g0032 a0001c0001t0001g0086 a0001c0001t0002g0064 others(4): Show a0001c0001t0001g0032 a0001c0001t0001g0086 a0001c0001t0002g0064 a0001c0001t0002g0077 a0001c0001t0002g0094 a0001c0001t0016g0078 a0001c0003t0006g0044	7	182	0.0385	-20	c.122 others(41): Show c.1228-16187_1228-16168delGTCTATCTATCTATCTATCT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	5/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	69855333	TAGATAGA others(13): Show TAGATAGATAGATAGACAGAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG00735.hp2 others(6): Show HG00408.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01433.hp2 HG01515.hp2 HG02280.hp2 NA18939.hp2 NA18993.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0019 a0001c0002t0001 a0001c0003t0009 a0002c0008t0001	a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0006g0058 others(6): Show a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0006g0058 a0001c0001t0007g0146 a0001c0001t0008g0037 a0001c0001t0019g0131 a0001c0002t0001g0110 a0001c0003t0009g0156 a0002c0008t0001g0100	9	182	0.0495	-20	c.122 others(41): Show c.1228-16191_1228-16172delGTCTGTCTATCTATCTATCT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	5/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	69861965	CAAAATAA others(13): Show CAAAATAAAATAAAATAAAAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp1 HG03098.hp1 others(1): Show HG02258.hp1 HG03041.hp1 HG03098.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0008 a0001c0002t0012 a0001c0003t0006 others(1): Show a0001c0001t0008 a0001c0002t0012 a0001c0003t0006 a0001c0003t0011	a0001c0001t0008g0075 a0001c0002t0012g0172 a0001c0003t0006g0039 others(1): Show a0001c0001t0008g0075 a0001c0002t0012g0172 a0001c0003t0006g0039 a0001c0003t0011g0135	4	182	0.0220	-20	c.122 others(41): Show c.1227+20298_1227+20317delATTTTATTTTATTTTATTTT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	5/10			chr13	TogoVar
KLHL22_chr22_20436519_20500795	20460608	CCCAAAAA others(13): Show CCCAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0139 a0001c0002t0002g0139	1	340	0.0029	-20	c.111 others(39): Show c.1113-2628_1113-2609delTTTTTTTTTTTTTTTTTTGG	KLHL22	ENSG00000099910.17	transcript	ENST00000328879.9	protein_coding	4/6			chr22	TogoVar
KLHL23_chr2_169728832_169756878	169738901	CTTTCATG others(13): Show CTTTCATGTTTCGCCTATCTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02965.hp2 HG03209.hp2 HG02717.hp1 HG02965.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0018 a0001c0001t0026g0165 a0001c0001t0026g0018 a0001c0001t0026g0165	3	400	0.0075	-20	c.121 others(39): Show c.1214-2483_1214-2464delTTTCATGTTTCGCCTATCTT	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3			chr2	TogoVar
KLHL23_chr2_169728832_169756878	169753151	ATATCTAT others(13): Show ATATCTATATATATATATATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0305 a0001c0001t0087g0305	1	400	0.0025	-20	c.34 others(31): Show c.3420_*3439delTATCTATATATATATATATC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding		1274		chr2	TogoVar
KLHL29_chr2_23380179_23713606	23408263	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	160	0.0063	-20	c.-15 others(41): Show c.-154+22502_-154+22521delAAAAAAAAAAAAAAAAAAAA	KLHL29	ENSG00000119771.15	transcript	ENST00000486442.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL29_chr2_23380179_23713606	23670965	TCTCTCTC others(13): Show TCTCTCTCTCTCTCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0016 a0001c0017t0002g0016	1	160	0.0063	-20	c.941 others(39): Show c.941-13430_941-13411delTCTCTCTCTCTCCCTCCCTC	KLHL29	ENSG00000119771.15	transcript	ENST00000486442.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL2_chr4_165202561_165328147	165264720	ACATATAT others(13): Show ACATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03041.hp1 NA20300.hp1 HG02109.hp1 HG03041.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0114 a0001c0002t0001g0006 a0001c0001t0001g0003 a0001c0001t0001g0114 a0001c0002t0001g0006	3	254	0.0118	-20	c.544 others(37): Show c.544+1362_544+1381delCATATATATATATATATATG	KLHL2	ENSG00000109466.14	transcript	ENST00000226725.11	protein_coding	5/14			chr4	TogoVar
KLHL30_chr2_238133668_238157947	238144369	CGGAAGGA others(13): Show CGGAAGGAAGGAAGGAAGGAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01081.hp1 HG01168.hp2 others(20): Show HG01069.hp2 HG01081.hp1 HG01168.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG02155.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03098.hp2 HG03704.hp1 HG04184.hp2 NA18747.hp1 NA18939.hp2 NA18988.hp1 NA18999.hp1 NA19063.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0009 a0001c0016 others(9): Show a0001c0001 a0001c0009 a0001c0016 a0001c0039 a0002c0002 a0002c0007 a0002c0008 a0002c0018 a0003c0006 a0004c0012 a0004c0017 a0009c0025	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0009t0001 a0001c0016t0003 a0001c0039t0001 a0002c0002t0002 a0002c0002t0012 a0002c0002t0036 a0002c0007t0001 a0002c0008t0001 a0002c0008t0005 a0002c0018t0001 a0002c0018t0004 a0003c0006t0002 a0004c0012t0005 a0004c0017t0005 a0009c0025t0005	a0001c0001t0001g0075 a0001c0001t0001g0150 a0001c0001t0004g0141 others(19): Show a0001c0001t0001g0075 a0001c0001t0001g0150 a0001c0001t0004g0141 a0001c0001t0008g0153 a0001c0009t0001g0087 a0001c0016t0003g0166 a0001c0039t0001g0310 a0002c0002t0002g0191 a0002c0002t0002g0241 a0002c0002t0012g0370 a0002c0002t0036g0371 a0002c0007t0001g0363 a0002c0008t0001g0337 a0002c0008t0005g0338 a0002c0018t0001g0357 a0002c0018t0004g0350 a0003c0006t0002g0292 a0004c0012t0005g0042 a0004c0012t0005g0343 a0004c0012t0005g0379 a0004c0017t0005g0356 a0009c0025t0005g0349	23	450	0.0511	-20	c.908 others(35): Show c.908-486_908-467delAAGGAAGGAAGGAAGGAAGG	KLHL30	ENSG00000168427.9	transcript	ENST00000409223.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL30_chr2_238133668_238157947	238144416	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGAAGGC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01891.hp1 HG02080.hp1 others(3): Show HG00609.hp1 HG01891.hp1 HG02080.hp1 NA18995.hp1 NA19077.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0011 a0003c0003 a0001c0001 a0001c0011 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0011t0004 a0003c0003t0001	a0001c0001t0001g0151 a0001c0001t0002g0132 a0001c0001t0004g0135 others(3): Show a0001c0001t0001g0151 a0001c0001t0002g0132 a0001c0001t0004g0135 a0001c0001t0011g0133 a0001c0011t0004g0134 a0003c0003t0001g0326	6	450	0.0133	-20	c.908 others(35): Show c.908-482_908-463delAAGGAAGGAAGGAAGGCAGG	KLHL30	ENSG00000168427.9	transcript	ENST00000409223.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL30_chr2_238133668_238157947	238144420	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG04184.hp1 HG01109.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0124 a0001c0001t0012g0182 a0001c0001t0001g0124 a0001c0001t0012g0182	2	450	0.0044	-20	c.908 others(35): Show c.908-478_908-459delAAGGAAGGAAGGCAGGCAGG	KLHL30	ENSG00000168427.9	transcript	ENST00000409223.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL30_chr2_238133668_238157947	238144424	AAGGAAGG others(13): Show AAGGAAGGAAGGCAGGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG03209.hp2 others(1): Show HG01891.hp2 HG02055.hp2 HG03209.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0002c0007t0007	a0001c0001t0001g0078 a0001c0001t0004g0077 a0001c0001t0007g0196 others(1): Show a0001c0001t0001g0078 a0001c0001t0004g0077 a0001c0001t0007g0196 a0002c0007t0007g0352	4	450	0.0089	-20	c.908 others(35): Show c.908-474_908-455delAAGGAAGGCAGGCAGGCAGG	KLHL30	ENSG00000168427.9	transcript	ENST00000409223.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL30_chr2_238133668_238157947	238144428	AAGGAAGG others(13): Show AAGGAAGGCAGGCAGGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01069.hp1 HG01071.hp1 HG00423.hp1 HG01069.hp1 HG01071.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0002 a0003c0004t0003 a0002c0002t0002 a0003c0004t0003	a0002c0002t0002g0232 a0003c0004t0003g0033 a0002c0002t0002g0232 a0003c0004t0003g0033	3	450	0.0067	-20	c.908 others(35): Show c.908-470_908-451delAAGGCAGGCAGGCAGGCAGG	KLHL30	ENSG00000168427.9	transcript	ENST00000409223.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL30_chr2_238133668_238157947	238144432	AAGGCAGG others(13): Show AAGGCAGGCAGGCAGGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02027.hp2 HG02523.hp1 others(3): Show HG00558.hp2 HG02027.hp2 HG02523.hp1 NA18982.hp2 NA18989.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0002 a0002c0002t0022 a0002c0007t0002 a0002c0002t0002 a0002c0002t0022 a0002c0007t0002	a0002c0002t0002g0027 a0002c0002t0002g0030 a0002c0002t0002g0192 others(2): Show a0002c0002t0002g0027 a0002c0002t0002g0030 a0002c0002t0002g0192 a0002c0002t0022g0227 a0002c0007t0002g0235	6	450	0.0133	-20	c.908 others(35): Show c.908-436_908-417delGGCAGGCAGGCAGGCAGGCA	KLHL30	ENSG00000168427.9	transcript	ENST00000409223.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL31_chr6_53642916_53670756	53666007	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0176 a0001c0002t0010g0176	1	420	0.0024	-20	c.-46 others(29): Show c.-460_-441delCTTCCTTCTTTCTTTCTTTC	KLHL31	ENSG00000124743.6	transcript	ENST00000370905.4	protein_coding		252		chr6	TogoVar
KLHL34_chrX_21649690_21663330	21659490	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02895.hp1 HG02897.hp1 others(1): Show HG02280.hp2 HG02895.hp1 HG02897.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0000 a0001c0001t0012g0000 a0001c0001t0001g0000 a0001c0001t0012g0000	4	265	0.0151	-20	c.-17 others(31): Show c.-1722_-1703delTAAATAAATAAATAAATAAA	KLHL34	ENSG00000185915.5	transcript	ENST00000379499.3	protein_coding		1161		chrX	TogoVar
KLHL36_chr16_84643511_84672686	84644104	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG02074.hp2 others(8): Show HG00735.hp1 HG00738.hp1 HG02074.hp2 HG02559.hp2 HG02602.hp1 HG03139.hp1 HG03209.hp1 HG03540.hp1 HG03688.hp2 HG04115.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011	a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 others(7): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0025 a0001c0001t0039 a0001c0001t0087 a0001c0002t0003 a0001c0003t0007 a0001c0005t0013 a0001c0011t0003	a0001c0001t0004g0002 a0001c0001t0005g0211 a0001c0001t0011g0025 others(7): Show a0001c0001t0004g0002 a0001c0001t0005g0211 a0001c0001t0011g0025 a0001c0001t0025g0001 a0001c0001t0039g0052 a0001c0001t0087g0124 a0001c0002t0003g0057 a0001c0003t0007g0010 a0001c0005t0013g0017 a0001c0011t0003g0018	11	448	0.0246	-20	c.-45 others(31): Show c.-4561_-4542delAAGAAAGAAAGAAAGAAAGA	KLHL36	ENSG00000135686.13	transcript	ENST00000564996.6	protein_coding		4406		chr16	TogoVar
KLHL36_chr16_84643511_84672686	84654575	CTAGTTTT others(13): Show CTAGTTTTGTTTTGTTTTGTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02647.hp2 HG01496.hp2 HG02647.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0094 a0001c0009t0095 a0001c0009t0094 a0001c0009t0095	a0001c0009t0094g0056 a0001c0009t0095g0056 a0001c0009t0094g0056 a0001c0009t0095g0056	2	448	0.0045	-20	c.64- others(35): Show c.64-2294_64-2275delAGTTTTGTTTTGTTTTGTTT	KLHL36	ENSG00000135686.13	transcript	ENST00000564996.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
KLHL36_chr16_84643511_84672686	84654577	AGTTTTGT others(13): Show AGTTTTGTTTTGTTTTGTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01168.hp2 HG02698.hp2 others(2): Show HG00438.hp1 HG01168.hp2 HG02698.hp2 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0027 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0027 a0001c0012t0030	a0001c0001t0001g0173 a0001c0001t0004g0208 a0001c0001t0027g0144 others(1): Show a0001c0001t0001g0173 a0001c0001t0004g0208 a0001c0001t0027g0144 a0001c0012t0030g0032	5	448	0.0112	-20	c.64- others(35): Show c.64-2253_64-2234delGTTTTGTTTTGTTTTGTTTT	KLHL36	ENSG00000135686.13	transcript	ENST00000564996.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
KLHL38_chr8_123639442_123658801	123641397	TACTAATT others(13): Show TACTAATTCATTAATTCATTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0003 a0003c0004t0005g0003	1	446	0.0022	-20	c.43 others(31): Show c.4322_*4341delCAATGAATTAATGAATTAGT	KLHL38	ENSG00000175946.9	transcript	ENST00000684634.1	protein_coding		3044		chr8	TogoVar
KLHL3_chr5_137612500_137741089	137688167	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02615.hp2 HG03453.hp1 HG00741.hp1 HG02615.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0007 a0001c0002t0004 a0001c0002t0007	a0001c0002t0004g0127 a0001c0002t0004g0128 a0001c0002t0007g0129 a0001c0002t0004g0127 a0001c0002t0004g0128 a0001c0002t0007g0129	3	252	0.0119	-20	c.526 others(37): Show c.526+4098_526+4117delATTTTATTTTATTTTATTTT	KLHL3	ENSG00000146021.15	transcript	ENST00000309755.9	protein_coding	5/14			chr5	TogoVar
KLHL42_chr12_27775233_27808040	27806433	GAGCTAGC others(13): Show GAGCTAGCTGGTTGGTTTACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	420	0.0024	-20	c.82 others(31): Show c.8268_*8287delAGCTAGCTGGTTGGTTTACA	KLHL42	ENSG00000087448.11	transcript	ENST00000381271.7	protein_coding		3394		chr12	TogoVar
KLHL5_chr4_39057232_39131233	39069428	TTTTATAT others(13): Show TTTTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03098.hp2 HG01168.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0002 a0001c0001t0003 a0001c0005t0002	a0001c0001t0003g0260 a0001c0005t0002g0271 a0001c0001t0003g0260 a0001c0005t0002g0271	2	304	0.0066	-20	c.383 others(37): Show c.383+6395_383+6414delTTATATATATATATATATAT	KLHL5	ENSG00000109790.18	transcript	ENST00000504108.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
KLHL5_chr4_39057232_39131233	39069430	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG02897.hp1 HG02647.hp1 HG02895.hp1 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0012 a0002c0007t0035 a0001c0001t0012 a0002c0007t0035	a0001c0001t0012g0095 a0001c0001t0012g0096 a0002c0007t0035g0094 a0001c0001t0012g0095 a0001c0001t0012g0096 a0002c0007t0035g0094	3	304	0.0099	-20	c.383 others(37): Show c.383+6420_383+6439delTATATATATATATATATATA	KLHL5	ENSG00000109790.18	transcript	ENST00000504108.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
KLHL8_chr4_87155103_87225618	87214415	GATATATA others(13): Show GATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp2 HG02809.hp2 others(6): Show HG02622.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02970.hp1 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0116 a0001c0001t0006g0117 others(5): Show a0001c0001t0006g0014 a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0118 a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0134	9	364	0.0247	-20	c.-15 others(39): Show c.-152+5983_-152+6002delATATATATATATATATATAT	KLHL8	ENSG00000145332.14	transcript	ENST00000273963.10	protein_coding	1/9			chr4	TogoVar
KLHL8_chr4_87155103_87225618	87225589	CAGAATTT others(13): Show CAGAATTTGAGTTAAAACTTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	364	0.0028	-20	c.-53 others(31): Show c.-5343_-5324delCAAGTTTTAACTCAAATTCT	KLHL8	ENSG00000145332.14	transcript	ENST00000273963.10	protein_coding		4972		chr4	TogoVar
KLK6_chr19_50953631_50974591	50959363	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03492.hp1 HG03831.hp1 others(3): Show HG01243.hp2 HG03492.hp1 HG03831.hp1 NA18956.hp2 NA18963.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0052 others(3): Show a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0072 a0001c0001t0001g0102	6	316	0.0190	-20	c.583 others(33): Show c.583-67_583-48delCACACACACACACACACACA	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK8_chr19_50991008_51006604	50999583	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18962.hp1 NA19058.hp2 others(1): Show HG02040.hp2 NA18962.hp1 NA19058.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0084 a0001c0001t0001g0186 a0001c0001t0001g0033 a0001c0001t0001g0084 a0001c0001t0001g0186	4	420	0.0095	-20	c.493 others(35): Show c.493+393_493+412delTTTTTTTTTTTTTTTTTTTT	KLK8	ENSG00000129455.16	transcript	ENST00000695909.1	protein_coding	4/5			chr19	TogoVar
KLK8_chr19_50991008_51006604	51004338	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02615.hp1 others(7): Show HG01884.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127	10	420	0.0238	-20	c.-28 others(31): Show c.-2835_-2816delTTTTTTTTTTTTTTTTTTTT	KLK8	ENSG00000129455.16	transcript	ENST00000695909.1	protein_coding		2735		chr19	TogoVar
KLK9_chr19_50997508_51014592	50999583	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 NA18962.hp1 NA19058.hp2 others(1): Show HG02040.hp1 NA18962.hp1 NA19058.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0075 a0001c0001t0001g0096 a0001c0001t0001g0102 others(1): Show a0001c0001t0001g0075 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0002t0002g0032	4	438	0.0091	-20	c.35 others(31): Show c.3508_*3527delTTTTTTTTTTTTTTTTTTTT	KLK9	ENSG00000213022.6	transcript	ENST00000594211.2	protein_coding		2924		chr19	TogoVar
KLK9_chr19_50997508_51014592	51004338	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02615.hp1 others(7): Show HG01884.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0059 a0001c0002t0003g0011 a0001c0002t0003g0073 others(1): Show a0001c0001t0001g0059 a0001c0002t0003g0011 a0001c0002t0003g0073 a0001c0002t0003g0074	10	438	0.0228	-20	c.467 others(35): Show c.467-518_467-499delTTTTTTTTTTTTTTTTTTTT	KLK9	ENSG00000213022.6	transcript	ENST00000594211.2	protein_coding	3/4			chr19	TogoVar
KLLN_chr10_87854158_87868533	87865994	CGAATTGT others(13): Show CGAATTGTGGCAGTGGACAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0000 a0001c0001t0010g0000	1	430	0.0023	-20	c.-35 others(31): Show c.-3527_-3508delATTGTCCACTGCCACAATTC	KLLN	ENSG00000227268.5	transcript	ENST00000445946.5	protein_coding		2462		chr10	TogoVar
KLRB1_chr12_9589551_9612916	9607332	TTTCCTTT others(13): Show TTTCCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0307 a0001c0001t0005g0307	1	436	0.0023	-20	c.85+ others(33): Show c.85+403_85+422delGAAAGAAAGAAAGAAAGGAA	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRC3_chr12_10407315_10425595	10423356	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG02135.hp2 NA19058.hp2 HG00621.hp2 HG02135.hp2 NA19058.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0020 a0004c0005t0001g0020	3	448	0.0067	-20	c.-28 others(31): Show c.-2826_-2807delATATTTTTTTTTTTTTTTTT	KLRC3	ENSG00000205810.9	transcript	ENST00000396439.7	protein_coding		2762		chr12	TogoVar
KMO_chr1_241527378_241600642	241528720	GGAGAGAG others(13): Show GGAGAGAGAGAGAGAGAGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(45): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG01081.hp1 HG01106.hp2 HG01255.hp2 HG01361.hp1 HG01517.hp1 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02132.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG03710.hp1 HG04115.hp1 HG04228.hp1 HG04228.hp2 NA18939.hp1 NA18939.hp2 NA18949.hp2 NA18950.hp1 NA18957.hp2 NA18966.hp1 NA18967.hp2 NA18971.hp2 NA18981.hp2 NA18984.hp2 NA18985.hp2 NA18991.hp2 NA18992.hp1 NA19001.hp2 NA19009.hp1 NA19012.hp2 NA19068.hp2 NA19070.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0002c0006 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0026 a0001c0001t0033 a0001c0001t0034 a0001c0001t0044 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0011 a0001c0002t0019 a0001c0002t0040 a0001c0008t0005 a0002c0003t0002 a0002c0003t0004 a0002c0003t0011 a0002c0003t0021 a0002c0003t0023 a0002c0006t0002 a0004c0009t0004	a0001c0001t0001g0250 a0001c0001t0001g0266 a0001c0001t0002g0267 others(45): Show a0001c0001t0001g0250 a0001c0001t0001g0266 a0001c0001t0002g0267 a0001c0001t0003g0240 a0001c0001t0005g0182 a0001c0001t0005g0244 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0280 a0001c0001t0006g0287 a0001c0001t0007g0235 a0001c0001t0007g0256 a0001c0001t0007g0340 a0001c0001t0009g0093 a0001c0001t0009g0249 a0001c0001t0009g0263 a0001c0001t0015g0264 a0001c0001t0016g0242 a0001c0001t0024g0159 a0001c0001t0026g0246 a0001c0001t0033g0336 a0001c0001t0034g0265 a0001c0001t0044g0268 a0001c0002t0001g0221 a0001c0002t0001g0252 a0001c0002t0001g0255 a0001c0002t0002g0092 a0001c0002t0002g0196 a0001c0002t0003g0211 a0001c0002t0004g0253 a0001c0002t0009g0260 a0001c0002t0011g0251 a0001c0002t0019g0017 a0001c0002t0040g0285 a0001c0008t0005g0163 a0002c0003t0002g0001 a0002c0003t0002g0161 a0002c0003t0002g0162 a0002c0003t0004g0160 a0002c0003t0011g0001 a0002c0003t0011g0236 a0002c0003t0011g0262 a0002c0003t0011g0286 a0002c0003t0021g0234 a0002c0003t0023g0134 a0002c0006t0002g0197 a0004c0009t0004g0232 a0004c0009t0004g0233	48	422	0.1137	-20	c.-37 others(31): Show c.-3724_-3705delGAGAGAGAGAGAGAGAGAGA	KMO	ENSG00000117009.12	transcript	ENST00000366559.9	protein_coding		3657		chr1	TogoVar
KMO_chr1_241527378_241600642	241549202	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0047 a0001c0001t0018g0047	1	422	0.0024	-20	c.124 others(35): Show c.124+352_124+371delAAAGAAAGAAAGAAAGAAAG	KMO	ENSG00000117009.12	transcript	ENST00000366559.9	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KMO_chr1_241527378_241600642	241554227	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG02615.hp2 others(13): Show HG01243.hp1 HG02572.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03453.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0001c0012	a0001c0001t0001 a0001c0001t0010 a0001c0001t0017 others(6): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0017 a0001c0001t0019 a0001c0002t0010 a0001c0004t0042 a0001c0010t0030 a0001c0012t0030 a0001c0012t0068	a0001c0001t0001g0043 a0001c0001t0001g0142 a0001c0001t0001g0144 others(12): Show a0001c0001t0001g0043 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0334 a0001c0001t0010g0138 a0001c0001t0010g0330 a0001c0001t0010g0335 a0001c0001t0017g0185 a0001c0001t0019g0068 a0001c0001t0019g0124 a0001c0002t0010g0008 a0001c0004t0042g0343 a0001c0010t0030g0383 a0001c0012t0030g0044 a0001c0012t0068g0292	16	422	0.0379	-20	c.313 others(37): Show c.313-1347_313-1328delTCCTTCCTTCCTTCCTTCCT	KMO	ENSG00000117009.12	transcript	ENST00000366559.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KMO_chr1_241527378_241600642	241562862	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 NA20129.hp1 HG02615.hp1 HG02622.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0001t0019 a0001c0004t0006 a0001c0001t0007 a0001c0001t0019 a0001c0004t0006	a0001c0001t0007g0074 a0001c0001t0019g0042 a0001c0004t0006g0342 a0001c0001t0007g0074 a0001c0001t0019g0042 a0001c0004t0006g0342	3	422	0.0071	-20	c.615 others(35): Show c.615+566_615+585delGGAAGGAAGGAAGGAAGGAA	KMO	ENSG00000117009.12	transcript	ENST00000366559.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KMO_chr1_241527378_241600642	241562898	GGAAGGAA others(13): Show GGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00558.hp2 others(41): Show HG00140.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00741.hp1 HG00741.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01943.hp1 HG02080.hp2 HG02132.hp1 HG02486.hp2 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG03139.hp2 HG03579.hp2 HG03688.hp2 HG03942.hp2 NA18944.hp2 NA18951.hp2 NA18954.hp2 NA18959.hp2 NA18971.hp1 NA18974.hp1 NA18981.hp1 NA18986.hp2 NA18988.hp2 NA18999.hp2 NA19003.hp1 NA19009.hp2 NA19043.hp1 NA19062.hp2 NA19070.hp2 NA19084.hp1 NA19240.hp2 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0004c0009 a0004c0013	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(22): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010 a0001c0002t0017 a0001c0002t0037 a0001c0002t0048 a0001c0004t0002 a0001c0004t0012 a0001c0004t0027 a0001c0005t0041 a0004c0009t0031 a0004c0013t0002	a0001c0001t0001g0024 a0001c0001t0001g0118 a0001c0001t0001g0142 others(40): Show a0001c0001t0001g0024 a0001c0001t0001g0118 a0001c0001t0001g0142 a0001c0001t0001g0250 a0001c0001t0007g0037 a0001c0001t0007g0256 a0001c0001t0010g0078 a0001c0001t0010g0089 a0001c0001t0010g0138 a0001c0001t0012g0177 a0001c0001t0013g0131 a0001c0001t0017g0014 a0001c0001t0018g0066 a0001c0001t0018g0137 a0001c0001t0019g0124 a0001c0001t0022g0126 a0001c0001t0028g0219 a0001c0001t0028g0220 a0001c0002t0001g0010 a0001c0002t0001g0113 a0001c0002t0001g0153 a0001c0002t0001g0221 a0001c0002t0001g0294 a0001c0002t0002g0297 a0001c0002t0004g0198 a0001c0002t0004g0298 a0001c0002t0006g0053 a0001c0002t0008g0357 a0001c0002t0010g0328 a0001c0002t0017g0189 a0001c0002t0037g0284 a0001c0002t0048g0273 a0001c0004t0002g0392 a0001c0004t0012g0013 a0001c0004t0012g0365 a0001c0004t0012g0393 a0001c0004t0012g0394 a0001c0004t0012g0400 a0001c0004t0027g0013 a0001c0004t0027g0395 a0001c0005t0041g0362 a0004c0009t0031g0231 a0004c0013t0002g0406	44	422	0.1043	-20	c.615 others(35): Show c.615+586_615+605delAGAAGGAAGGAAGGAAGGAA	KMO	ENSG00000117009.12	transcript	ENST00000366559.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KMO_chr1_241527378_241600642	241588329	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0033 a0001c0002t0003g0033	1	422	0.0024	-20	c.101 others(37): Show c.1016-414_1016-395delTTTTTTTTTTTTTTTTTTTT	KMO	ENSG00000117009.12	transcript	ENST00000366559.9	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KMT2C_chr7_152129925_152441003	152255109	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	172	0.0058	-20	c.130 others(39): Show c.1300-2414_1300-2395delTATATATATATATATATATA	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	9/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152297051	AAGACAGA others(13): Show AAGACAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0028 a0002c0004t0002g0028	1	172	0.0058	-20	c.849 others(39): Show c.849+12895_849+12914delCTCTCTCTCTCTCTCTGTCT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152307195	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0159 a0010c0014t0001g0159	1	172	0.0058	-20	c.849 others(37): Show c.849+2751_849+2770delTCCTTCCTTCCTTCCTTCCT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2E_chr7_105009205_105120019	105051161	CTTCCTTC others(13): Show CTTCCTTCCTTCCTTCCTTTT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	304	0.0033	-20	c.71+ others(37): Show c.71+10161_71+10180delCCTTCCTTCCTTCCTTTTTT	KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
KMT2E_chr7_105009205_105120019	105054458	GTCTATCT others(13): Show GTCTATCTATCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02717.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0055 a0001c0001t0001g0056	2	304	0.0066	-20	c.72- others(35): Show c.72-7666_72-7647delATCTATCTATCTATCTATCT	KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
KMT2E_chr7_105009205_105120019	105076872	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03225.hp2 HG02486.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0185 a0001c0002t0005g0288 a0001c0002t0005g0185 a0001c0002t0005g0288	2	304	0.0066	-20	c.769 others(33): Show c.769-63_769-44delGTGTGTGTGTGTGTGTGTGT	KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
KMT5B_chr11_68149863_68218296	68198437	AAAGACAA others(13): Show AAAGACAAGACAAGACAAGAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01256.hp2 others(22): Show HG01167.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp1 HG01891.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02615.hp1 HG02683.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03486.hp2 HG03540.hp1 HG04115.hp2 HG04228.hp1 NA18906.hp1 NA19003.hp1 NA20300.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0009 a0001c0001 a0001c0004 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0004t0001 a0005c0009t0001	a0001c0001t0001g0094 a0001c0001t0001g0266 a0001c0001t0001g0267 others(22): Show a0001c0001t0001g0094 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0210 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0016g0218 a0001c0004t0001g0069 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0072 a0001c0004t0001g0073 a0001c0004t0001g0074 a0005c0009t0001g0178	25	328	0.0762	-20	c.-76 others(37): Show c.-76-8305_-76-8286delGTCTTGTCTTGTCTTGTCTT	KMT5B	ENSG00000110066.16	transcript	ENST00000304363.9	protein_coding	1/10			chr11	TogoVar

Search by Variant

Search

Search Results