Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
KCNMA1_chr10_76879882_77642808	77382986	GTGTGTGT others(11): Show GTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG04184.hp2 NA18906.hp2 HG03486.hp2 HG04184.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0017 a0001c0001t0002 a0001c0002t0002 a0001c0002t0017	a0001c0001t0002g0081 a0001c0002t0002g0044 a0001c0002t0017g0045 a0001c0001t0002g0081 a0001c0002t0002g0044 a0001c0002t0017g0045	3	106	0.0283	-18	c.540 others(37): Show c.540+20858_540+20875delTATATATATACACACACA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	2/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77572569	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0082 a0001c0003t0003g0082	1	106	0.0094	-18	c.378 others(37): Show c.378+64678_378+64695delATATATATATATATATAT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMB2_chr3_178531436_178849429	178571447	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02004.hp1 HG02723.hp2 others(1): Show HG01169.hp2 HG02004.hp1 HG02723.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0164 a0001c0001t0002g0183 a0001c0001t0003g0163 others(1): Show a0001c0001t0002g0164 a0001c0001t0002g0183 a0001c0001t0003g0163 a0001c0001t0004g0162	4	232	0.0172	-18	c.-68 others(37): Show c.-68+34758_-68+34775delTATATATATATATATATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178614247	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02451.hp2 HG00735.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0206 a0001c0001t0002g0207	2	232	0.0086	-18	c.-68 others(37): Show c.-68+77568_-68+77585delATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178676742	TCAATATA others(11): Show TCAATATACTTGCATGCTA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01884.hp1 HG02451.hp2 others(2): Show HG00735.hp1 HG01884.hp1 HG02451.hp2 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0161 a0001c0001t0002g0206 a0001c0001t0002g0207 others(2): Show a0001c0001t0001g0161 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0003g0204 a0001c0001t0003g0205	5	232	0.0216	-18	c.-67 others(39): Show c.-67-130598_-67-130581delATATACTTGCATGCTACA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178678986	TTTGTTGT others(11): Show TTTGTTGTTGTTGTTGTCA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA20805.hp2 HG00323.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0046 a0001c0001t0002g0047	2	232	0.0086	-18	c.-67 others(39): Show c.-67-128348_-67-128331delGTTGTTGTCATTGTTGTT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757720	GTATATAT others(11): Show GTATATATATCCAAGAGGA	G G	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0165	1	232	0.0043	-18	c.-67 others(37): Show c.-67-49613_-67-49596delCCAAGAGGATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758026	GGATATAT others(11): Show GGATATATATATATATCTA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	232	0.0043	-18	c.-67 others(37): Show c.-67-49299_-67-49282delAGATATATATATATATCT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758962	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	232	0.0043	-18	c.-67 others(37): Show c.-67-48362_-67-48345delATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759042	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp1 HG03486.hp2 others(2): Show HG02922.hp2 HG02965.hp1 HG03486.hp2 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0106 a0001c0001t0003g0107 others(2): Show a0001c0001t0003g0100 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0204 a0001c0001t0003g0205	5	232	0.0216	-18	c.-67 others(37): Show c.-67-48282_-67-48265delATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759278	TATCTCTC others(11): Show TATCTCTCCAAGAGGAGAC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0202 a0001c0001t0004g0202	1	232	0.0043	-18	c.-67 others(37): Show c.-67-48062_-67-48045delCTCTCCAAGAGGAGACAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759298	TATATATA others(11): Show TATATATATCTCCAAGAGG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	232	0.0043	-18	c.-67 others(37): Show c.-67-48036_-67-48019delCTCCAAGAGGATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN1_chr19_17962107_18005085	17970289	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02572.hp1 others(6): Show HG01884.hp2 HG02109.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG03139.hp2 HG03490.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0021	a0001c0001t0002g0076 a0001c0001t0004g0005 a0001c0001t0004g0006 others(4): Show a0001c0001t0002g0076 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0075 a0001c0001t0004g0077 a0001c0001t0005g0016 a0001c0001t0021g0082	9	378	0.0238	-18	c.-82 others(35): Show c.-82+3000_-82+3017delTTTTTTTTTTTTTTTTTT	KCNN1	ENSG00000105642.16	transcript	ENST00000684775.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
KCNN2_chr5_114357070_114501496	114378723	TAGTGTCA others(11): Show TAGTGTCAGCATCTCATTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG02572.hp1 others(3): Show HG01243.hp1 HG02451.hp1 HG02572.hp1 HG02723.hp2 HG02886.hp2 HG03540.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0002c0011 a0002c0014 others(1): Show a0002c0002 a0002c0011 a0002c0014 a0008c0013	a0002c0002t0001 a0002c0011t0001 a0002c0014t0001 others(1): Show a0002c0002t0001 a0002c0011t0001 a0002c0014t0001 a0008c0013t0001	a0002c0002t0001g0238 a0002c0002t0001g0240 a0002c0011t0001g0239 others(3): Show a0002c0002t0001g0238 a0002c0002t0001g0240 a0002c0011t0001g0239 a0002c0011t0001g0241 a0002c0014t0001g0017 a0008c0013t0001g0237	6	250	0.0240	-18	c.121 others(39): Show c.1218+14725_1218+14742delTGTCAGCATCTCATTGAG	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN2_chr5_114357070_114501496	114440617	CAGGTGTG others(11): Show CAGGTGTGATTAGATTTAA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	250	0.0040	-18	c.163 others(39): Show c.1638-22429_1638-22412delGTGTGATTAGATTTAAAG	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN3_chr1_154692455_154875281	154702700	GATATATA others(11): Show GATATATATATATATATAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp2 HG03130.hp1 HG03139.hp2 others(2): Show HG02071.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0009	a0001c0001 a0003c0003 a0007c0020 others(1): Show a0001c0001 a0003c0003 a0007c0020 a0009c0029	a0001c0001t0072 a0003c0003t0026 a0003c0003t0114 others(2): Show a0001c0001t0072 a0003c0003t0026 a0003c0003t0114 a0007c0020t0082 a0009c0029t0026	a0001c0001t0072g0071 a0003c0003t0026g0181 a0003c0003t0114g0233 others(2): Show a0001c0001t0072g0071 a0003c0003t0026g0181 a0003c0003t0114g0233 a0007c0020t0082g0222 a0009c0029t0026g0192	5	238	0.0210	-18	c.52 others(29): Show c.5258_*5275delATATATATATATATATAT	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	8/8	5258		chr1	TogoVar
KCNN4_chr19_43761533_43785973	43764350	CATTATTA others(11): Show CATTATTATTATTATTATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01515.hp1 HG03139.hp2 others(1): Show HG00323.hp2 HG01515.hp1 HG03139.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0127 a0001c0001t0001g0276 others(1): Show a0001c0001t0001g0079 a0001c0001t0001g0127 a0001c0001t0001g0276 a0001c0001t0001g0286	4	440	0.0091	-18	c.27 others(29): Show c.2725_*2742delAATAATAATAATAATAAT	KCNN4	ENSG00000104783.15	transcript	ENST00000648319.1	protein_coding		2182		chr19	TogoVar
KCNN4_chr19_43761533_43785973	43764385	TTATTATT others(11): Show TTATTATTATTATTATTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01192.hp2 NA19060.hp2 others(1): Show HG00738.hp1 HG01192.hp2 NA19060.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0126 a0001c0001t0002g0221 others(1): Show a0001c0001t0002g0055 a0001c0001t0002g0126 a0001c0001t0002g0221 a0001c0001t0002g0313	4	440	0.0091	-18	c.26 others(29): Show c.2690_*2707delGTAATAATAATAATAATA	KCNN4	ENSG00000104783.15	transcript	ENST00000648319.1	protein_coding		2147		chr19	TogoVar
KCNN4_chr19_43761533_43785973	43764388	TTATTATT others(11): Show TTATTATTATTATTACTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02717.hp1 others(1): Show HG02109.hp1 HG02559.hp2 HG02717.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0063 a0001c0001t0003g0204 a0001c0001t0003g0022 a0001c0001t0003g0063 a0001c0001t0003g0204	4	440	0.0091	-18	c.26 others(29): Show c.2687_*2704delGTAGTAATAATAATAATA	KCNN4	ENSG00000104783.15	transcript	ENST00000648319.1	protein_coding		2144		chr19	TogoVar
KCNQ1_chr11_2440008_2854105	2456763	TCCAAAAA others(11): Show TCCAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03225.hp1 HG03486.hp1 others(3): Show HG02895.hp2 HG03225.hp1 HG03486.hp1 HG03579.hp1 NA19043.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0003c0010 a0001c0001 a0003c0006 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0006t0004 a0003c0010t0001	a0001c0001t0001g0014 a0001c0001t0001g0053 a0001c0001t0002g0016 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0053 a0001c0001t0002g0016 a0001c0001t0003g0052 a0003c0006t0004g0011 a0003c0010t0001g0009	6	208	0.0289	-18	c.386 others(37): Show c.386+11280_386+11297delCCAAAAAAAAAAAAAAAA	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	1/15			chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2850156	AGGGCCCT others(11): Show AGGGCCCTCCACAGCGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01981.hp2 HG02148.hp1 others(1): Show HG00408.hp1 HG01981.hp2 HG02148.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0108 a0001c0001t0001g0145 a0001c0002t0001g0028 others(1): Show a0001c0001t0001g0108 a0001c0001t0001g0145 a0001c0002t0001g0028 a0001c0002t0001g0117	4	208	0.0192	-18	c.21 others(29): Show c.2154_*2171delGGGCCCTCCACAGCGCCC	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding		1052		chr11	TogoVar
KCNQ2_chr20_63395208_63477655	63431980	GCAGGGAA others(11): Show GCAGGGAAGGCCCCACCCT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0095 a0002c0001t0006g0095	1	330	0.0030	-18	c.111 others(35): Show c.1119-629_1119-612delAGGGTGGGGCCTTCCCTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63432088	ACAGGGAA others(11): Show ACAGGGAAGGCCCCACCCT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp2 NA19030.hp2 HG01261.hp1 HG01884.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0001c0002t0025 a0002c0001t0014 a0001c0002t0002 a0001c0002t0025 a0002c0001t0014	a0001c0002t0002g0158 a0001c0002t0025g0211 a0002c0001t0014g0168 a0001c0002t0002g0158 a0001c0002t0025g0211 a0002c0001t0014g0168	3	330	0.0091	-18	c.111 others(35): Show c.1119-737_1119-720delAGGGTGGGGCCTTCCCTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63432224	CTCCACCC others(11): Show CTCCACCCACAGGGAAGGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp2 HG01256.hp1 others(15): Show HG00099.hp2 HG01106.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01993.hp1 HG02056.hp1 HG02293.hp2 HG02300.hp1 HG02630.hp2 HG02738.hp1 HG03239.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0008 others(1): Show a0001c0002 a0001c0003 a0001c0008 a0002c0001	a0001c0002t0022 a0001c0002t0034 a0001c0002t0043 others(8): Show a0001c0002t0022 a0001c0002t0034 a0001c0002t0043 a0001c0003t0013 a0001c0003t0015 a0001c0003t0022 a0001c0003t0100 a0001c0003t0103 a0001c0003t0104 a0001c0008t0007 a0002c0001t0014	a0001c0002t0022g0002 a0001c0002t0034g0040 a0001c0002t0034g0256 others(14): Show a0001c0002t0022g0002 a0001c0002t0034g0040 a0001c0002t0034g0256 a0001c0002t0043g0009 a0001c0003t0013g0292 a0001c0003t0013g0296 a0001c0003t0013g0299 a0001c0003t0013g0300 a0001c0003t0013g0302 a0001c0003t0013g0303 a0001c0003t0015g0031 a0001c0003t0022g0111 a0001c0003t0100g0268 a0001c0003t0103g0301 a0001c0003t0104g0287 a0001c0008t0007g0048 a0002c0001t0014g0162	18	330	0.0546	-18	c.111 others(35): Show c.1119-873_1119-856delTCCTTCCCTGTGGGTGGA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63432332	CTCCACCC others(11): Show CTCCACCCTCAGGGAAGGA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03453.hp1 HG02717.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0068 a0001c0002t0072 a0001c0002t0068 a0001c0002t0072	a0001c0002t0068g0033 a0001c0002t0072g0173 a0001c0002t0068g0033 a0001c0002t0072g0173	2	330	0.0061	-18	c.111 others(35): Show c.1119-981_1119-964delTCCTTCCCTGAGGGTGGA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63432350	ATCCACCC others(11): Show ATCCACCCACAGGGAAGGC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19043.hp2 HG02723.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0075 a0001c0017t0051 a0001c0002t0075 a0001c0017t0051	a0001c0002t0075g0222 a0001c0017t0051g0160 a0001c0002t0075g0222 a0001c0017t0051g0160	2	330	0.0061	-18	c.111 others(35): Show c.1119-999_1119-982delGCCTTCCCTGTGGGTGGA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63432394	ACAGGGAA others(11): Show ACAGGGAAGGCCCCACCCT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03834.hp2 HG01952.hp2 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0063 a0001c0002t0002 a0002c0001t0063	a0001c0002t0002g0177 a0002c0001t0063g0209 a0001c0002t0002g0177 a0002c0001t0063g0209	2	330	0.0061	-18	c.111 others(37): Show c.1119-1043_1119-1026delAGGGTGGGGCCTTCCCTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63432584	ATCCACCC others(11): Show ATCCACCCACAGGGAAGGC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(74): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00621.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01358.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG02027.hp1 HG02071.hp1 HG02109.hp2 HG02135.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03471.hp1 HG03540.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18939.hp2 NA18945.hp1 NA18952.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18990.hp2 NA19000.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp1 NA19087.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0001c0003 a0001c0004 others(11): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0014 a0001c0017 a0001c0020 a0002c0001 a0002c0006 a0003c0026 a0005c0027	a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 others(41): Show a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0022 a0001c0002t0036 a0001c0002t0070 a0001c0002t0071 a0001c0002t0073 a0001c0002t0074 a0001c0002t0080 a0001c0002t0083 a0001c0002t0084 a0001c0002t0085 a0001c0002t0096 a0001c0003t0003 a0001c0003t0010 a0001c0003t0094 a0001c0003t0102 a0001c0003t0107 a0001c0003t0108 a0001c0004t0089 a0001c0007t0007 a0001c0007t0044 a0001c0008t0099 a0001c0009t0003 a0001c0009t0098 a0001c0012t0052 a0001c0012t0082 a0001c0012t0095 a0001c0012t0109 a0001c0014t0007 a0001c0014t0015 a0001c0017t0050 a0001c0020t0012 a0002c0001t0001 a0002c0001t0005 a0002c0001t0009 a0002c0001t0063 a0002c0001t0065 a0002c0006t0001 a0002c0006t0016 a0003c0026t0097 a0005c0027t0105	a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0002t0005g0045 others(73): Show a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0002t0005g0045 a0001c0002t0009g0044 a0001c0002t0010g0118 a0001c0002t0010g0190 a0001c0002t0012g0028 a0001c0002t0012g0029 a0001c0002t0012g0037 a0001c0002t0022g0052 a0001c0002t0036g0001 a0001c0002t0070g0171 a0001c0002t0071g0046 a0001c0002t0073g0020 a0001c0002t0074g0240 a0001c0002t0080g0236 a0001c0002t0083g0041 a0001c0002t0084g0254 a0001c0002t0085g0050 a0001c0002t0096g0039 a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0274 a0001c0003t0003g0279 a0001c0003t0003g0298 a0001c0003t0003g0306 a0001c0003t0010g0210 a0001c0003t0094g0014 a0001c0003t0102g0267 a0001c0003t0107g0275 a0001c0003t0108g0263 a0001c0004t0089g0057 a0001c0007t0007g0227 a0001c0007t0007g0228 a0001c0007t0007g0229 a0001c0007t0007g0232 a0001c0007t0007g0233 a0001c0007t0007g0234 a0001c0007t0007g0235 a0001c0007t0007g0244 a0001c0007t0044g0224 a0001c0008t0099g0280 a0001c0009t0003g0262 a0001c0009t0003g0281 a0001c0009t0003g0294 a0001c0009t0003g0314 a0001c0009t0003g0315 a0001c0009t0098g0261 a0001c0012t0052g0043 a0001c0012t0082g0034 a0001c0012t0095g0237 a0001c0012t0109g0323 a0001c0014t0007g0226 a0001c0014t0007g0231 a0001c0014t0015g0230 a0001c0017t0050g0053 a0001c0020t0012g0056 a0001c0020t0012g0203 a0002c0001t0001g0153 a0002c0001t0001g0186 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0194 a0002c0001t0001g0195 a0002c0001t0001g0196 a0002c0001t0001g0243 a0002c0001t0005g0054 a0002c0001t0009g0055 a0002c0001t0009g0167 a0002c0001t0063g0209 a0002c0001t0065g0035 a0002c0006t0001g0159 a0002c0006t0016g0272 a0002c0006t0016g0309 a0003c0026t0097g0260 a0005c0027t0105g0293	77	330	0.2333	-18	c.111 others(37): Show c.1118+1207_1119-1216delGCCTTCCCTGTGGGTGGA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63432668	AGAAGGCC others(11): Show AGAAGGCCCCACCCTCAGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03654.hp1 HG04184.hp2 HG00639.hp1 HG03654.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0001 a0001c0008 a0002c0001	a0001c0008t0027 a0002c0001t0006 a0001c0008t0027 a0002c0001t0006	a0001c0008t0027g0312 a0002c0001t0006g0063 a0002c0001t0006g0083 a0001c0008t0027g0312 a0002c0001t0006g0063 a0002c0001t0006g0083	3	330	0.0091	-18	c.111 others(37): Show c.1118+1123_1118+1140delCCTGAGGGTGGGGCCTTC	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63432684	AGGGAAGG others(11): Show AGGGAAGGCCCCACCCTCT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0051 a0001c0017t0051	a0001c0017t0051g0160 a0001c0017t0051g0160	1	330	0.0030	-18	c.111 others(37): Show c.1118+1107_1118+1124delAGAGGGTGGGGCCTTCCC	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16			chr20	TogoVar
KCNQ3_chr8_132115861_132486095	132168717	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG01071.hp2 others(19): Show HG00323.hp2 HG00621.hp2 HG01071.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01943.hp1 HG02083.hp1 HG02615.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG03195.hp1 HG03540.hp1 HG03834.hp2 HG04228.hp1 HG06807.hp1 NA18941.hp1 NA18945.hp1 NA19088.hp1 NA19240.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0014 a0001c0001t0021 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0044 a0001c0001t0082 a0001c0001t0092 a0001c0001t0096 a0001c0001t0101 a0001c0001t0111 a0001c0005t0012 a0001c0005t0085 a0002c0002t0005 a0002c0002t0017	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0002g0114 others(19): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0002g0114 a0001c0001t0010g0022 a0001c0001t0014g0113 a0001c0001t0021g0055 a0001c0001t0021g0089 a0001c0001t0023g0069 a0001c0001t0028g0060 a0001c0001t0029g0135 a0001c0001t0030g0152 a0001c0001t0033g0031 a0001c0001t0044g0038 a0001c0001t0082g0102 a0001c0001t0092g0136 a0001c0001t0096g0159 a0001c0001t0101g0156 a0001c0001t0111g0175 a0001c0005t0012g0095 a0001c0005t0085g0128 a0002c0002t0005g0118 a0002c0002t0017g0144	22	176	0.1250	-18	c.123 others(37): Show c.1235+1599_1235+1616delCACACACACACACACACA	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	8/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132479949	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0037 a0001c0001t0035g0037	1	176	0.0057	-18	c.386 others(33): Show c.386+180_386+197delGTGTGTGTGTGTGTGTGT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ5_chr6_72617064_73203853	72746064	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00597.hp2 others(36): Show HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02083.hp2 HG02145.hp1 HG02293.hp1 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp1 HG03041.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03834.hp1 HG03834.hp2 NA18944.hp1 NA18944.hp2 NA18954.hp2 NA18959.hp2 NA18966.hp1 NA18966.hp2 NA18988.hp1 NA18988.hp2 NA19058.hp1 NA19058.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0029 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0011 a0001c0002t0016 a0001c0002t0020 a0001c0002t0021 a0001c0002t0023 a0001c0002t0025 a0001c0003t0002 a0001c0003t0009 a0001c0003t0015 a0001c0004t0002 a0001c0010t0039 a0002c0006t0026	a0001c0001t0001g0013 a0001c0001t0002g0005 a0001c0001t0002g0036 others(36): Show a0001c0001t0001g0013 a0001c0001t0002g0005 a0001c0001t0002g0036 a0001c0001t0003g0011 a0001c0001t0003g0015 a0001c0001t0004g0020 a0001c0001t0005g0014 a0001c0001t0005g0074 a0001c0001t0006g0008 a0001c0001t0006g0022 a0001c0001t0007g0004 a0001c0001t0007g0016 a0001c0001t0009g0023 a0001c0001t0011g0007 a0001c0001t0012g0024 a0001c0001t0029g0046 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0002g0041 a0001c0002t0002g0072 a0001c0002t0003g0064 a0001c0002t0005g0026 a0001c0002t0005g0063 a0001c0002t0010g0028 a0001c0002t0010g0052 a0001c0002t0011g0053 a0001c0002t0016g0044 a0001c0002t0020g0058 a0001c0002t0021g0038 a0001c0002t0023g0062 a0001c0002t0025g0065 a0001c0003t0002g0010 a0001c0003t0009g0080 a0001c0003t0015g0077 a0001c0004t0002g0078 a0001c0010t0039g0027 a0002c0006t0026g0019	39	80	0.4875	-18	c.398 others(39): Show c.398+123500_398+123517delAAAAAAAAAAAAAAAAAA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	72779821	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02109.hp2 HG02145.hp1 others(12): Show HG00438.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02293.hp1 HG02559.hp1 HG02622.hp2 HG03041.hp2 HG03453.hp2 HG03834.hp1 NA18959.hp2 NA18988.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0018 a0001c0001t0022 a0001c0002t0002 a0001c0002t0005 a0001c0002t0020 a0001c0002t0021 a0001c0002t0023 a0001c0003t0002 a0002c0006t0026	a0001c0001t0002g0006 a0001c0001t0002g0036 a0001c0001t0004g0045 others(12): Show a0001c0001t0002g0006 a0001c0001t0002g0036 a0001c0001t0004g0045 a0001c0001t0005g0073 a0001c0001t0008g0060 a0001c0001t0018g0066 a0001c0001t0022g0075 a0001c0002t0002g0041 a0001c0002t0002g0072 a0001c0002t0005g0026 a0001c0002t0020g0058 a0001c0002t0021g0038 a0001c0002t0023g0062 a0001c0003t0002g0010 a0002c0006t0026g0019	15	80	0.1875	-18	c.398 others(39): Show c.398+157278_398+157295delGTGTGTGTGTGTGTGTGT	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	72962200	TACATATA others(11): Show TACATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0034 a0001c0011t0034	a0001c0011t0034g0003 a0001c0011t0034g0003	1	80	0.0125	-18	c.399 others(37): Show c.399-41704_399-41687delTATATATATATATACACA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73197580	TACACACA others(11): Show TACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG02083.hp2 HG02965.hp1 others(8): Show HG00639.hp2 HG02083.hp2 HG02965.hp1 HG03041.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03834.hp1 HG06807.hp2 NA18966.hp1 NA18988.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0012 a0002c0006	a0001c0001t0005 a0001c0001t0018 a0001c0002t0005 others(5): Show a0001c0001t0005 a0001c0001t0018 a0001c0002t0005 a0001c0002t0025 a0001c0003t0033 a0001c0009t0014 a0001c0012t0014 a0002c0006t0026	a0001c0001t0005g0014 a0001c0001t0005g0073 a0001c0001t0005g0074 others(8): Show a0001c0001t0005g0014 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0018g0066 a0001c0002t0005g0026 a0001c0002t0005g0063 a0001c0002t0025g0065 a0001c0003t0033g0079 a0001c0009t0014g0031 a0001c0012t0014g0009 a0002c0006t0026g0019	11	80	0.1375	-18	c.22 others(29): Show c.2211_*2228delACACACACACACACACAC	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	14/14	2211	INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNRG_chr13_50010444_50025922	50015090	AAAAAATA others(11): Show AAAAAATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	448	0.0022	-18	c.-40 others(27): Show c.-403_-386delAAAAATATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		353		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015092	AAAATATA others(11): Show AAAATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02717.hp1 HG01106.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	2	448	0.0045	-18	c.-40 others(27): Show c.-401_-384delAAATATATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		351		chr13	TogoVar
KCNS3_chr2_17873667_17937958	17888629	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG01109.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0127 a0001c0001t0002g0109 a0001c0001t0001g0127 a0001c0001t0002g0109	2	384	0.0052	-18	c.-25 others(37): Show c.-252+9850_-252+9867delTATATATATATATATATA	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNS3_chr2_17873667_17937958	17921911	GTGTGTAT others(11): Show GTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02976.hp1 HG03540.hp2 HG02818.hp2 HG02976.hp1 HG03540.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0327 a0003c0006t0001g0328 a0003c0006t0001g0329 a0003c0006t0001g0327 a0003c0006t0001g0328 a0003c0006t0001g0329	3	384	0.0078	-18	c.-60 others(35): Show c.-60+4042_-60+4059delGTGTATATATATATATAT	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNT1_chr9_135697185_135800502	135768254	GGGGCACT others(11): Show GGGGCACTGGGATACCGGT	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	272	0.0037	-18	c.133 others(35): Show c.1338-352_1338-335delCACTGGGATACCGGTGGG	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	13/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135774253	GGTGTGTG others(11): Show GGTGTGTGTGGTGTCTGTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02004.hp1 HG02145.hp1 others(3): Show HG01109.hp2 HG02004.hp1 HG02145.hp1 HG02155.hp2 HG03927.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0032 a0001c0004t0001 a0001c0002t0001 a0001c0002t0032 a0001c0004t0001	a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0262 others(3): Show a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0032g0200 a0001c0004t0001g0263	6	272	0.0221	-18	c.224 others(37): Show c.2244-1043_2244-1026delCTGTTGTGTGTGTGGTGT	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT2_chr1_196220779_196613440	196596054	GTGTATAT others(11): Show GTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	136	0.0074	-18	c.95+ others(35): Show c.95+12143_95+12160delTATATATATATATATACA	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar
KCNV1_chr8_109958636_109980771	109975233	GAAGACCC others(11): Show GAAGACCCAGTGGGTCACT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp1 HG02723.hp1 others(4): Show HG02280.hp1 HG02630.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0021 a0001c0001t0005g0017 a0001c0001t0005g0021	7	372	0.0188	-18	c.-80 others(33): Show c.-804-59_-804-42delAGTGACCCACTGGGTCTT	KCNV1	ENSG00000164794.9	transcript	ENST00000524391.6	protein_coding	1/3			chr8	TogoVar
KCNV2_chr9_2712510_2735037	2722066	TTTATAAA others(11): Show TTTATAAATAAATTAGAAG	T T	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0069 a0002c0004t0004g0069	1	442	0.0023	-18	c.135 others(37): Show c.1356+2976_1356+2993delAAATAAATTAGAAGTTAT	KCNV2	ENSG00000168263.9	transcript	ENST00000382082.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNV2_chr9_2712510_2735037	2722154	TTTATAAA others(11): Show TTTATAAATAAATTAGAAG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02896.hp1 NA18950.hp1 HG02647.hp2 HG02896.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0020 a0001c0001 a0001c0002 a0001c0020	a0001c0001t0013 a0001c0002t0002 a0001c0020t0013 a0001c0001t0013 a0001c0002t0002 a0001c0020t0013	a0001c0001t0013g0142 a0001c0002t0002g0084 a0001c0020t0013g0141 a0001c0001t0013g0142 a0001c0002t0002g0084 a0001c0020t0013g0141	3	442	0.0068	-18	c.135 others(37): Show c.1356+3064_1356+3081delAAATAAATTAGAAGTTAT	KCNV2	ENSG00000168263.9	transcript	ENST00000382082.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNV2_chr9_2712510_2735037	2722280	CAAATTAG others(11): Show CAAATTAGAAGTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0075 a0001c0001t0009g0075	1	442	0.0023	-18	c.135 others(37): Show c.1356+3208_1356+3225delTAGAAGTTATTTATAAAT	KCNV2	ENSG00000168263.9	transcript	ENST00000382082.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCTD11_chr17_7347162_7359944	7357546	GAGGAGAA others(11): Show GAGGAGAAGAAGAAGAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	418	0.0024	-18	c.39 others(29): Show c.3906_*3923delAGGAGAAGAAGAAGAAGA	KCTD11	ENSG00000213859.8	transcript	ENST00000333751.8	protein_coding		2603	WARNING_TRANSCRIPT_NO_START_CODON	chr17	TogoVar
KCTD11_chr17_7347162_7359944	7357549	GAGAAGAA others(11): Show GAGAAGAAGAAGAAGAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(100): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00597.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02109.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG06807.hp1 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19063.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0005t0002 a0001c0006t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(18): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0009g0000 a0001c0001t0011g0000 a0001c0001t0012g0000 a0001c0001t0014g0000 a0001c0001t0016g0000 a0001c0001t0019g0000 a0001c0001t0020g0000 a0001c0001t0021g0000 a0001c0001t0023g0000 a0001c0001t0026g0000 a0001c0001t0027g0000 a0001c0001t0028g0000 a0001c0005t0002g0000 a0001c0006t0002g0000	103	418	0.2464	-18	c.39 others(29): Show c.3909_*3926delAGAAGAAGAAGAAGAAGA	KCTD11	ENSG00000213859.8	transcript	ENST00000333751.8	protein_coding		2606	WARNING_TRANSCRIPT_NO_START_CODON	chr17	TogoVar
KCTD11_chr17_7347162_7359944	7357577	AGAAGAAG others(11): Show AGAAGAAGAAGAAGAAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00597.hp2 others(39): Show HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00673.hp2 HG01243.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02132.hp1 HG02155.hp1 HG02451.hp1 HG02486.hp2 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG03017.hp1 HG03139.hp1 HG03195.hp2 HG03516.hp1 HG04199.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18947.hp1 NA18951.hp2 NA18959.hp1 NA18963.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18986.hp2 NA18995.hp1 NA19010.hp1 NA19054.hp1 NA19062.hp1 NA19080.hp1 NA19082.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0001t0015 a0001c0007t0029 a0001c0001t0003 a0001c0001t0015 a0001c0007t0029	a0001c0001t0003g0000 a0001c0001t0015g0000 a0001c0007t0029g0000 a0001c0001t0003g0000 a0001c0001t0015g0000 a0001c0007t0029g0000	42	418	0.1005	-18	c.39 others(29): Show c.3937_*3954delGAAGAAGAAGAAGAAGAG	KCTD11	ENSG00000213859.8	transcript	ENST00000333751.8	protein_coding		2634	WARNING_TRANSCRIPT_NO_START_CODON	chr17	TogoVar

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