Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KCNQ5_chr6_72617064_73203853	72962218	C C	CACACATA others(11): Show CACACATATACATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	80	0.0125	18	c.399 others(37): Show c.399-41681_399-41680insCATATATATACACATATA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73097142	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG01071.hp2 others(9): Show HG00639.hp1 HG01071.hp1 HG01071.hp2 HG02293.hp1 HG02451.hp2 HG03041.hp2 HG03098.hp1 NA18944.hp1 NA18944.hp2 NA18988.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0027 a0001c0001t0028 a0001c0002t0001 a0001c0002t0010 a0001c0002t0020 a0001c0004t0001	a0001c0001t0001g0013 a0001c0001t0002g0005 a0001c0001t0005g0073 others(9): Show a0001c0001t0001g0013 a0001c0001t0002g0005 a0001c0001t0005g0073 a0001c0001t0006g0008 a0001c0001t0006g0022 a0001c0001t0010g0012 a0001c0001t0027g0030 a0001c0001t0028g0049 a0001c0002t0001g0040 a0001c0002t0010g0052 a0001c0002t0020g0058 a0001c0004t0001g0076	12	80	0.1500	18	c.919 others(35): Show c.919-8098_919-8097insTATATATATATATATATA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNRG_chr13_50010444_50025922	50014360	T T	TATATATA others(11): Show TATATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	448	0.0022	18	c.-11 others(29): Show c.-1134_-1133insATATATACACACACACAC	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		1083		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50014360	T T	TATATATA others(11): Show TATATATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 NA18747.hp2 NA19078.hp1 HG04228.hp2 NA18747.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	448	0.0067	18	c.-11 others(29): Show c.-1134_-1133insATATATATATACACACAC	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		1083		chr13	TogoVar
KCNS3_chr2_17873667_17937958	17884260	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18954.hp2 NA18964.hp1 others(2): Show HG00621.hp1 NA18954.hp2 NA18964.hp1 NA18995.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0191 a0001c0002t0001g0190 a0001c0002t0001g0192 others(2): Show a0001c0001t0002g0191 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0270	5	384	0.0130	18	c.-25 others(37): Show c.-252+5455_-252+5456insTATATATATATATATATA	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNS3_chr2_17873667_17937958	17888629	G G	GTATATCT others(11): Show GTATATCTATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	384	0.0026	18	c.-25 others(37): Show c.-252+9828_-252+9829insCTATATATATATATATAT	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNS3_chr2_17873667_17937958	17888629	G G	GTATATCT others(11): Show GTATATCTATATCTATATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02602.hp1 HG03654.hp2 others(3): Show HG02074.hp2 HG02602.hp1 HG03654.hp2 NA18973.hp2 NA18975.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0001 a0001c0012t0001 a0001c0002t0001 a0001c0012t0001	a0001c0002t0001g0089 a0001c0002t0001g0206 a0001c0002t0001g0226 others(3): Show a0001c0002t0001g0089 a0001c0002t0001g0206 a0001c0002t0001g0226 a0001c0002t0001g0229 a0001c0002t0001g0237 a0001c0012t0001g0025	6	384	0.0156	18	c.-25 others(37): Show c.-252+9828_-252+9829insCTATATCTATATATATAT	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNS3_chr2_17873667_17937958	17888629	G G	GTATATCT others(11): Show GTATATCTATCTATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	384	0.0026	18	c.-25 others(37): Show c.-252+9828_-252+9829insCTATCTATATATATATAT	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNT1_chr9_135697185_135800502	135731989	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0037 a0001c0003t0001g0037	1	272	0.0037	18	c.254 others(37): Show c.254+17270_254+17271insGAGAGAGAGAGAGAGAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	272	0.0037	18	c.254 others(37): Show c.254+17304_254+17321dupAGAGAGAGAGAGAGAGAG	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATAGAGA others(11): Show TATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0195 a0001c0004t0001g0195	1	272	0.0037	18	c.254 others(37): Show c.254+17272_254+17273insTAGAGAGAGAGAGAGAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATATATA others(11): Show TATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA19240.hp2 HG02735.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0006 a0001c0001t0003 a0001c0003t0006	a0001c0001t0003g0243 a0001c0003t0006g0117 a0001c0001t0003g0243 a0001c0003t0006g0117	2	272	0.0074	18	c.254 others(37): Show c.254+17272_254+17273insTATATAGAGAGAGAGAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATATATA others(11): Show TATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01433.hp1 HG03453.hp2 HG01074.hp2 HG01433.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0022 a0002c0008 a0001c0002 a0001c0022 a0002c0008	a0001c0002t0004 a0001c0022t0001 a0002c0008t0001 a0001c0002t0004 a0001c0022t0001 a0002c0008t0001	a0001c0002t0004g0257 a0001c0022t0001g0070 a0002c0008t0001g0170 a0001c0002t0004g0257 a0001c0022t0001g0070 a0002c0008t0001g0170	3	272	0.0110	18	c.254 others(37): Show c.254+17272_254+17273insTATATATAGAGAGAGAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATATATA others(11): Show TATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0096	1	272	0.0037	18	c.254 others(37): Show c.254+17272_254+17273insTATATATATAGAGAGAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATATATA others(11): Show TATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	272	0.0037	18	c.254 others(37): Show c.254+17272_254+17273insTATATATATATATATAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135732012	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0040 a0001c0003t0001g0040	1	272	0.0037	18	c.254 others(37): Show c.254+17309_254+17310insGGAGAGAGAGAGAGAGAG	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135757005	C C	CCCCCACC others(11): Show CCCCCACCCTCTCCCATCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG00741.hp2 others(29): Show HG00544.hp1 HG00609.hp2 HG00741.hp2 HG01081.hp2 HG01167.hp2 HG01358.hp1 HG01358.hp2 HG01993.hp2 HG02074.hp2 HG02080.hp1 HG02451.hp1 HG02615.hp1 HG02809.hp1 HG02809.hp2 HG02976.hp1 HG03017.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18943.hp1 NA18947.hp1 NA18959.hp2 NA19005.hp1 NA19005.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0019 a0001c0020 a0003c0011 a0004c0017 a0008c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0034 a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 a0001c0003t0031 a0001c0004t0004 a0001c0004t0012 a0001c0007t0001 a0001c0019t0003 a0001c0020t0017 a0003c0011t0001 a0004c0017t0004 a0008c0012t0003	a0001c0001t0001g0183 a0001c0001t0001g0230 a0001c0001t0003g0218 others(29): Show a0001c0001t0001g0183 a0001c0001t0001g0230 a0001c0001t0003g0218 a0001c0001t0003g0222 a0001c0001t0005g0175 a0001c0001t0013g0176 a0001c0002t0001g0090 a0001c0002t0001g0121 a0001c0002t0001g0184 a0001c0002t0001g0213 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0002g0219 a0001c0002t0002g0228 a0001c0002t0003g0120 a0001c0002t0005g0220 a0001c0002t0034g0179 a0001c0003t0001g0034 a0001c0003t0001g0227 a0001c0003t0002g0027 a0001c0003t0009g0177 a0001c0003t0031g0269 a0001c0004t0004g0025 a0001c0004t0004g0224 a0001c0004t0012g0225 a0001c0004t0012g0226 a0001c0007t0001g0232 a0001c0019t0003g0089 a0001c0020t0017g0001 a0003c0011t0001g0044 a0004c0017t0004g0223 a0008c0012t0003g0241	32	272	0.1177	18	c.600 others(31): Show c.600+86_600+87insCATCTCCCCACCCTCTCC	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	7/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	136	0.0074	18	c.269 others(37): Show c.2697+1408_2697+1409insATATATATATATTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196329950	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	136	0.0074	18	c.210 others(37): Show c.2103+1188_2103+1205dupATATATATATATATATAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	18/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196334487	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp1 HG01981.hp2 others(1): Show HG01496.hp2 HG01891.hp1 HG01981.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0008 a0001c0001t0001 a0001c0003t0008	a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0079 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0079 a0001c0003t0008g0081	4	136	0.0294	18	c.178 others(35): Show c.1784-428_1784-427insAAAAAAAAAAAAAAAAAA	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	16/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196339520	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	136	0.0074	18	c.178 others(35): Show c.1783+803_1783+820dupCTCTCTCTCTCTCTCTCT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	16/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196561652	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03579.hp1 HG03486.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0130 a0001c0001t0001g0087 a0001c0001t0001g0130	2	136	0.0147	18	c.95+ others(35): Show c.95+46545_95+46562dupTTTTTTTTTTTTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196561675	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01346.hp1 HG03130.hp1 others(2): Show HG00735.hp2 HG01346.hp1 HG03130.hp1 NA18990.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0024 a0001c0001t0002g0029 a0001c0001t0002g0033 others(2): Show a0001c0001t0001g0024 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0003g0082	5	136	0.0368	18	c.95+ others(35): Show c.95+46539_95+46540insCTTTTTTTTTTTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196570067	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG04228.hp1 HG03041.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0084 a0001c0001t0002g0114 a0001c0001t0001g0084 a0001c0001t0002g0114	2	136	0.0147	18	c.95+ others(35): Show c.95+38130_95+38147dupTTTTTTTTTTTTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196596054	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18906.hp1 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0087 a0001c0001t0005g0100 a0001c0001t0001g0087 a0001c0001t0005g0100	2	136	0.0147	18	c.95+ others(35): Show c.95+12160_95+12161insTATATATATATATATATA	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196596056	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03516.hp1 HG01109.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0095 a0001c0001t0001g0096	2	136	0.0147	18	c.95+ others(35): Show c.95+12141_95+12158dupTATATATATATATATATA	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar
KCNU1_chr8_36779374_36941125	36879209	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp1 HG02738.hp2 others(1): Show HG00140.hp1 HG01074.hp1 HG02738.hp2 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0017 a0001c0002 a0001c0004 a0001c0017	a0001c0002t0001 a0001c0004t0001 a0001c0017t0001 a0001c0002t0001 a0001c0004t0001 a0001c0017t0001	a0001c0002t0001g0014 a0001c0002t0001g0251 a0001c0004t0001g0202 others(1): Show a0001c0002t0001g0014 a0001c0002t0001g0251 a0001c0004t0001g0202 a0001c0017t0001g0217	4	294	0.0136	18	c.200 others(39): Show c.2009+14689_2009+14690insATATATATATATATATAT	KCNU1	ENSG00000215262.8	transcript	ENST00000399881.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNV2_chr9_2712510_2735037	2722198	T T	TTTATAAA others(11): Show TTTATAAATAAATTAGAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp1 HG02970.hp1 others(2): Show HG01891.hp1 HG02647.hp1 HG02970.hp1 HG03453.hp2 NA20129.hp1	a0002 a0002	a0002c0005 a0002c0008 a0002c0005 a0002c0008	a0002c0005t0004 a0002c0008t0004 a0002c0005t0004 a0002c0008t0004	a0002c0005t0004g0159 a0002c0008t0004g0047 a0002c0008t0004g0110 others(1): Show a0002c0005t0004g0159 a0002c0008t0004g0047 a0002c0008t0004g0110 a0002c0008t0004g0111	5	442	0.0113	18	c.135 others(37): Show c.1356+3107_1356+3108insAAATAAATTAGAAGTTAT	KCNV2	ENSG00000168263.9	transcript	ENST00000382082.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNV2_chr9_2712510_2735037	2722340	A A	AATAAATT others(11): Show AATAAATTAGAAGTTATTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0111 a0002c0008t0004g0111	1	442	0.0023	18	c.135 others(37): Show c.1356+3252_1356+3269dupTAGAAGTTATTTATAAAT	KCNV2	ENSG00000168263.9	transcript	ENST00000382082.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNV2_chr9_2712510_2735037	2722604	A A	AATTAGAA others(11): Show AATTAGAAGTTATTTATTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0061 a0002c0006t0001g0061	1	442	0.0023	18	c.135 others(37): Show c.1356+3511_1356+3512insTAGAAGTTATTTATTTAT	KCNV2	ENSG00000168263.9	transcript	ENST00000382082.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCTD14_chr11_78010715_78028276	78025118	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	468	0.0021	18	c.-18 others(29): Show c.-1870_-1869insTATATATATATACACACA	KCTD14	ENSG00000151364.17	transcript	ENST00000353172.6	protein_coding		1843		chr11	TogoVar
KCTD15_chr19_33791870_33820761	33816579	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG02717.hp2 HG02896.hp1 others(1): Show HG00140.hp1 HG02717.hp2 HG02896.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0032 a0001c0001t0002 a0001c0001t0032	a0001c0001t0002g0009 a0001c0001t0002g0127 a0001c0001t0002g0184 others(1): Show a0001c0001t0002g0009 a0001c0001t0002g0127 a0001c0001t0002g0184 a0001c0001t0032g0132	4	370	0.0108	18	c.36 others(29): Show c.3631_*3632insAAAAAAAAAAAAAAAAAA	KCTD15	ENSG00000153885.15	transcript	ENST00000683859.1	protein_coding		819		chr19	TogoVar
KCTD16_chr5_144165873_144490686	144299044	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	156	0.0064	18	c.832 others(37): Show c.832+91510_832+91527dupATATATATATATATATAT	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD16_chr5_144165873_144490686	144398708	A A	ACTCTCTC others(11): Show ACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0087 a0001c0001t0041g0087	1	156	0.0064	18	c.833 others(37): Show c.833-74945_833-74928dupCTCTCTCTCTCTCTCTCT	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD19_chr16_67284432_67331741	67314824	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0194 a0001c0002t0001g0194	1	232	0.0043	18	c.300 others(35): Show c.300+5764_300+5765insCTCTCTCTCTCTCTCTCT	KCTD19	ENSG00000168676.11	transcript	ENST00000304372.6	protein_coding	2/15			chr16	TogoVar
KCTD19_chr16_67284432_67331741	67331069	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	232	0.0043	18	c.-43 others(29): Show c.-4380_-4363dupCTCTCTCTCTCTCTCTCT	KCTD19	ENSG00000168676.11	transcript	ENST00000304372.6	protein_coding		4329		chr16	TogoVar
KCTD1_chr18_26449910_26553553	26453072	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG02055.hp2 HG02572.hp2 others(3): Show HG00323.hp1 HG02055.hp2 HG02572.hp2 HG02965.hp2 HG03540.hp1 NA19000.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0003 a0007c0017 a0001c0001 a0002c0003 a0007c0017	a0001c0001t0001 a0002c0003t0002 a0007c0017t0001 a0001c0001t0001 a0002c0003t0002 a0007c0017t0001	a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0223 others(3): Show a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0223 a0001c0001t0001g0289 a0002c0003t0002g0318 a0007c0017t0001g0335	6	338	0.0178	18	c.26 others(29): Show c.2670_*2671insATTATTATTATTATTATT	KCTD1	ENSG00000134504.14	transcript	ENST00000580059.7	protein_coding		1837		chr18	TogoVar
KCTD21_chr11_78166249_78193626	78183619	A A	AGAGACAG others(11): Show AGAGACAGGAAAAATTAAT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0102	1	430	0.0023	18	c.-30 others(35): Show c.-30+4936_-30+4953dupATTAATTTTTCCTGTCTC	KCTD21	ENSG00000188997.8	transcript	ENST00000340067.4	protein_coding	1/1			chr11	TogoVar
KCTD2_chr17_75042225_75070886	75062699	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02486.hp2 HG02886.hp1 others(5): Show HG02071.hp2 HG02486.hp2 HG02886.hp1 HG03225.hp1 HG03710.hp2 NA18982.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013	a0001c0001t0001g0147 a0001c0001t0002g0178 a0001c0001t0005g0164 others(5): Show a0001c0001t0001g0147 a0001c0001t0002g0178 a0001c0001t0005g0164 a0001c0001t0006g0148 a0001c0001t0007g0067 a0001c0001t0007g0072 a0001c0001t0013g0149 a0001c0001t0013g0152	8	408	0.0196	18	c.763 others(33): Show c.763-291_763-274dupCACACACACACACACACA	KCTD2	ENSG00000180901.11	transcript	ENST00000322444.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
KCTD4_chr13_45187853_45206045	45191220	A A	AATATATA others(11): Show AATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	18	c.25 others(29): Show c.2567_*2568insATATATATATATATATAT	KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding		1632		chr13	TogoVar
KCTD4_chr13_45187853_45206045	45191224	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01175.hp1 HG02055.hp2 others(1): Show HG01099.hp2 HG01175.hp1 HG02055.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	4	352	0.0114	18	c.25 others(29): Show c.2563_*2564insATATATATATTTTTTTTT	KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding		1628		chr13	TogoVar
KCTD4_chr13_45187853_45206045	45191224	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG03490.hp1 HG02922.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0003 a0001c0001t0002g0005	2	352	0.0057	18	c.25 others(29): Show c.2563_*2564insATATATATATATTTTTTT	KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding		1628		chr13	TogoVar
KCTD4_chr13_45187853_45206045	45191224	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	352	0.0028	18	c.25 others(29): Show c.2563_*2564insATATATATATATATTTTT	KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding		1628		chr13	TogoVar
KCTD5_chr16_2677523_2714030	2688243	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	414	0.0024	18	c.252 others(35): Show c.252+5446_252+5447insATATATATATATATTTAT	KCTD5	ENSG00000167977.9	transcript	ENST00000301738.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
KCTD7_chr7_66623881_66648047	66629372	A A	ACCCCCTA others(11): Show ACCCCCTACCCACCCGCAC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	428	0.0023	18	c.144 others(33): Show c.144+168_144+169insCTACCCACCCGCACCCCC	KCTD7	ENSG00000243335.10	transcript	ENST00000639828.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
KCTD7_chr7_66623881_66648047	66634113	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18993.hp1 NA19043.hp2 HG00438.hp1 NA18993.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0003t0003 a0001c0001t0011 a0001c0003t0003	a0001c0001t0011g0161 a0001c0003t0003g0174 a0001c0003t0003g0175 a0001c0001t0011g0161 a0001c0003t0003g0174 a0001c0003t0003g0175	3	428	0.0070	18	c.314 others(33): Show c.314+676_314+693dupATATATATATATATATAT	KCTD7	ENSG00000243335.10	transcript	ENST00000639828.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
KCTD7_chr7_66623881_66648047	66634117	T T	TATATATA others(11): Show TATATATATATATATTATA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	428	0.0023	18	c.314 others(33): Show c.314+687_314+688insTATAATATATATATATAT	KCTD7	ENSG00000243335.10	transcript	ENST00000639828.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
KCTD8_chr4_44168903_44453809	44317228	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18985.hp1 HG04204.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0135 a0001c0001t0001g0070 a0001c0001t0001g0135	2	294	0.0068	18	c.961 others(39): Show c.961+130317_961+130334dupAAAAAAAAAAAAAAAAAA	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KCTD8_chr4_44168903_44453809	44396204	A A	ATGAGACT others(11): Show ATGAGACTCTAATGCAGCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	294	0.0034	18	c.961 others(37): Show c.961+51341_961+51358dupGGCTGCATTAGAGTCTCA	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KCTD8_chr4_44168903_44453809	44442774	T T	TACACACG others(11): Show TACACACGTATACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00438.hp1 others(74): Show HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp1 HG01243.hp1 HG01261.hp2 HG01433.hp2 HG01884.hp2 HG01981.hp1 HG02040.hp1 HG02055.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG03654.hp1 HG03927.hp2 HG04199.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18951.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18989.hp2 NA18990.hp2 NA18995.hp1 NA18999.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19043.hp1 NA19066.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp1 NA19240.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0001c0009t0001	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 others(74): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0002g0097 a0001c0001t0002g0137 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0003g0196 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0007g0003 a0001c0002t0001g0084 a0001c0002t0001g0188 a0001c0004t0001g0279 a0001c0004t0001g0280 a0001c0004t0001g0281 a0001c0004t0001g0282 a0001c0004t0001g0283 a0001c0006t0001g0008 a0001c0009t0001g0292	77	294	0.2619	18	c.961 others(35): Show c.961+4788_961+4789insGTGTGTGTATACGTGTGT	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar

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