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
KCNK9_chr8_139612121_139708123	139687387	TATATATG others(17): Show TATATATGTGTATACATATATATTC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	322	0.0031	-24	c.283 others(43): Show c.283+15299_283+15322delGAATATATATGTATACACATATAT	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139687486	ATATACAC others(17): Show ATATACACATATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03486.hp2 HG03098.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0102 a0001c0001t0009g0078 a0001c0001t0001g0102 a0001c0001t0009g0078	2	322	0.0062	-24	c.283 others(43): Show c.283+15200_283+15223delCATATATATGTATATATGTGTATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139704951	CACACACA others(17): Show CACACACACACACACACATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 NA18947.hp1 NA18954.hp1 others(1): Show HG02145.hp1 NA18947.hp1 NA18954.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0002t0001g0257 others(1): Show a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0263	4	322	0.0124	-24	c.-19 others(35): Show c.-1983_-1960delATATATATGTGTGTGTGTGTGTGT	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding		1829		chr8	TogoVar
KCNMA1_chr10_76879882_77642808	77000857	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	106	0.0094	-24	c.226 others(41): Show c.2266+526_2266+549delATATATATATATATATATATATAT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	19/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77082002	CTTTTCTT others(17): Show CTTTTCTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp1 NA19030.hp1 others(2): Show HG02922.hp1 HG02965.hp1 NA19030.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 a0001c0004t0003	a0001c0001t0001g0027 a0001c0001t0005g0092 a0001c0004t0001g0036 others(2): Show a0001c0001t0001g0027 a0001c0001t0005g0092 a0001c0004t0001g0036 a0001c0004t0001g0063 a0001c0004t0003g0021	5	106	0.0472	-24	c.152 others(43): Show c.1524-2476_1524-2453delAAAAAAAAAAAAAAAAAAAGAAAA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	12/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77127071	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02897.hp2 HG01243.hp2 HG01884.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0011 a0001c0001t0002 a0001c0002t0001 a0001c0002t0011	a0001c0001t0002g0085 a0001c0002t0001g0088 a0001c0002t0011g0089 a0001c0001t0002g0085 a0001c0002t0001g0088 a0001c0002t0011g0089	3	106	0.0283	-24	c.809 others(41): Show c.809-6047_809-6024delGTGTGTGTGTGTGTGTGTGTGTGT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	5/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77382988	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19043.hp2 HG02486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0001 a0001c0001t0003 a0001c0008t0001	a0001c0001t0003g0079 a0001c0008t0001g0004 a0001c0001t0003g0079 a0001c0008t0001g0004	2	106	0.0189	-24	c.540 others(43): Show c.540+20850_540+20873delTATATATATATATATATACACACA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	2/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77425073	GTGGATGG others(17): Show GTGGATGGATGAGTGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	106	0.0094	-24	c.379 others(43): Show c.379-21074_379-21051delTCCATCCATCCACTCATCCATCCA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77439123	AAGAGAAG others(17): Show AAGAGAAGAGAAGAGAAGAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	106	0.0094	-24	c.379 others(43): Show c.379-35124_379-35101delCTCTTCTCTTCTCTTCTCTTCTCT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMB2_chr3_178531436_178849429	178603460	GAGAAATG others(17): Show GAGAAATGGGCAAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00639.hp1 others(50): Show HG00323.hp2 HG00544.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG01192.hp2 HG01258.hp2 HG01346.hp1 HG01496.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02129.hp2 HG02165.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02698.hp2 HG02895.hp1 HG02896.hp1 HG03098.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 NA18747.hp1 NA18941.hp2 NA18943.hp1 NA18949.hp2 NA18953.hp1 NA18961.hp2 NA18968.hp2 NA18971.hp1 NA18980.hp1 NA18988.hp1 NA18989.hp1 NA18992.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19068.hp1 NA19077.hp1 NA19081.hp2 NA19083.hp1 NA19091.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0005t0003	a0001c0001t0002g0034 a0001c0001t0002g0046 a0001c0001t0002g0047 others(50): Show a0001c0001t0002g0034 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0077 a0001c0001t0002g0133 a0001c0001t0002g0151 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0058 a0001c0001t0003g0064 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0098 a0001c0001t0003g0115 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0001g0114 a0001c0002t0002g0053 a0001c0005t0003g0051	53	232	0.2285	-24	c.-68 others(43): Show c.-68+66771_-68+66794delGGAAGAAATGGGCAAAGGAAGGAA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178614247	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp2 HG02572.hp1 others(10): Show HG01109.hp1 HG01261.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG03209.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG04184.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0082 a0001c0001t0002g0117 a0001c0001t0002g0209 others(10): Show a0001c0001t0002g0082 a0001c0001t0002g0117 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0214 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0002t0001g0114 a0001c0002t0001g0217	13	232	0.0560	-24	c.-68 others(43): Show c.-68+77562_-68+77585delATATATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759473	ATATATAT others(17): Show ATATATATATATATATCTCCAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	232	0.0043	-24	c.-67 others(43): Show c.-67-47869_-67-47846delTATATATATATATATCTCCAAGAG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759562	TCTCTCTC others(17): Show TCTCTCTCCACGAGGATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0085 a0001c0002t0006g0085	1	232	0.0043	-24	c.-67 others(43): Show c.-67-47780_-67-47757delCTCTCTCCACGAGGATATATATAC	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759965	TATATATA others(17): Show TATATATATATATATATCCAAGAGG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0225	1	232	0.0043	-24	c.-67 others(43): Show c.-67-47361_-67-47338delCCAAGAGGATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN1_chr19_17962107_18005085	17966023	GCCTTCCT others(17): Show GCCTTCCTTCCTTCCTTCCTTCCTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0044 a0001c0001t0009g0044	1	378	0.0027	-24	c.-13 others(35): Show c.-1375_-1352delCCTTCCTTCCTTCCTTCCTTCCTT	KCNN1	ENSG00000105642.16	transcript	ENST00000684775.1	protein_coding		1083		chr19	TogoVar
KCNN1_chr19_17962107_18005085	17970289	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	378	0.0027	-24	c.-82 others(41): Show c.-82+2994_-82+3017delTTTTTTTTTTTTTTTTTTTTTTTT	KCNN1	ENSG00000105642.16	transcript	ENST00000684775.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
KCNN1_chr19_17962107_18005085	17997302	ATGTCCCC others(17): Show ATGTCCCCACGCTCCTGCTGTTCCC	A A	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	378	0.0027	-24	c.137 others(41): Show c.1378-849_1378-826delTGTCCCCACGCTCCTGCTGTTCCC	KCNN1	ENSG00000105642.16	transcript	ENST00000684775.1	protein_coding	9/9			chr19	TogoVar
KCNN3_chr1_154692455_154875281	154702700	GATATATA others(17): Show GATATATATATATATATATATATAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02145.hp2 others(22): Show HG01891.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0019	a0001c0008 a0002c0002 a0002c0009 others(12): Show a0001c0008 a0002c0002 a0002c0009 a0002c0010 a0003c0003 a0003c0007 a0005c0011 a0006c0012 a0007c0017 a0007c0021 a0008c0016 a0008c0019 a0009c0030 a0010c0018 a0019c0039	a0001c0008t0005 a0002c0002t0003 a0002c0002t0005 others(16): Show a0001c0008t0005 a0002c0002t0003 a0002c0002t0005 a0002c0002t0012 a0002c0009t0003 a0002c0010t0120 a0003c0003t0003 a0003c0003t0099 a0003c0007t0005 a0005c0011t0003 a0006c0012t0005 a0007c0017t0005 a0007c0017t0097 a0007c0021t0098 a0008c0016t0003 a0008c0019t0012 a0009c0030t0005 a0010c0018t0012 a0019c0039t0003	a0001c0008t0005g0064 a0002c0002t0003g0124 a0002c0002t0003g0134 others(22): Show a0001c0008t0005g0064 a0002c0002t0003g0124 a0002c0002t0003g0134 a0002c0002t0003g0137 a0002c0002t0003g0145 a0002c0002t0005g0143 a0002c0002t0012g0135 a0002c0002t0012g0144 a0002c0009t0003g0156 a0002c0010t0120g0228 a0003c0003t0003g0185 a0003c0003t0099g0179 a0003c0007t0005g0175 a0003c0007t0005g0176 a0003c0007t0005g0177 a0005c0011t0003g0205 a0006c0012t0005g0019 a0007c0017t0005g0216 a0007c0017t0097g0218 a0007c0021t0098g0217 a0008c0016t0003g0214 a0008c0019t0012g0208 a0009c0030t0005g0193 a0010c0018t0012g0188 a0019c0039t0003g0226	25	238	0.1050	-24	c.52 others(35): Show c.5252_*5275delATATATATATATATATATATATAT	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	8/8	5252		chr1	TogoVar
KCNN4_chr19_43761533_43785973	43764350	CATTATTA others(17): Show CATTATTATTATTATTATTATTATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02258.hp2 others(7): Show HG01891.hp1 HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02622.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp1 NA18906.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0302 a0001c0001t0004g0274 a0001c0001t0005g0088 others(7): Show a0001c0001t0001g0302 a0001c0001t0004g0274 a0001c0001t0005g0088 a0001c0001t0005g0120 a0001c0001t0005g0142 a0001c0001t0005g0187 a0001c0001t0005g0191 a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0210	10	440	0.0227	-24	c.27 others(35): Show c.2719_*2742delAATAATAATAATAATAATAATAAT	KCNN4	ENSG00000104783.15	transcript	ENST00000648319.1	protein_coding		2182		chr19	TogoVar
KCNN4_chr19_43761533_43785973	43764382	TTATTATT others(17): Show TTATTATTATTATTATTATTACTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02723.hp1 others(7): Show HG01109.hp2 HG01243.hp2 HG02723.hp1 HG03041.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0061 a0001c0001t0003g0062 others(6): Show a0001c0001t0003g0023 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0071 a0001c0001t0003g0087 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0336 a0001c0001t0003g0348	10	440	0.0227	-24	c.26 others(35): Show c.2687_*2710delGTAGTAATAATAATAATAATAATA	KCNN4	ENSG00000104783.15	transcript	ENST00000648319.1	protein_coding		2150		chr19	TogoVar
KCNQ1_chr11_2440008_2854105	2442376	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG03471.hp1 others(2): Show HG02630.hp1 HG02886.hp1 HG03471.hp1 NA18906.hp2 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0005 a0007c0011 a0001c0001 a0001c0005 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0005t0001 a0007c0011t0001	a0001c0001t0001g0006 a0001c0001t0002g0007 a0001c0001t0005g0004 others(2): Show a0001c0001t0001g0006 a0001c0001t0002g0007 a0001c0001t0005g0004 a0001c0005t0001g0005 a0007c0011t0001g0037	5	208	0.0240	-24	c.-27 others(35): Show c.-2722_-2699delACACACACACACACACACACACAC	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding		2631		chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2544378	ATGTGTGC others(17): Show ATGTGTGCATATATGTGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0037 a0007c0011t0001g0037	1	208	0.0048	-24	c.477 others(43): Show c.477+16367_477+16390delCATATATGTGTATATATGTGTGTG	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2829974	AGGAGGAG others(17): Show AGGAGGAGGGAGGAGGAAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0009 a0003c0010t0001g0009	1	208	0.0048	-24	c.179 others(45): Show c.1795-17784_1795-17761delGAGGAGGAAGGAAGAGGGAGGAGG	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ5_chr6_72617064_73203853	72746064	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp1 HG02965.hp2 HG02723.hp1 HG02895.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0036 a0001c0002t0030 a0001c0001t0003 a0001c0001t0036 a0001c0002t0030	a0001c0001t0003g0069 a0001c0001t0036g0070 a0001c0002t0030g0059 a0001c0001t0003g0069 a0001c0001t0036g0070 a0001c0002t0030g0059	3	80	0.0375	-24	c.398 others(45): Show c.398+123494_398+123517delAAAAAAAAAAAAAAAAAAAAAAAA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	72941532	TTCCCTCC others(17): Show TTCCCTCCTTCCTTTCCTTCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp1 HG02647.hp2 HG02257.hp1 HG02559.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0032 a0001c0001t0003 a0001c0001t0004 a0001c0001t0032	a0001c0001t0003g0067 a0001c0001t0004g0045 a0001c0001t0032g0035 a0001c0001t0003g0067 a0001c0001t0004g0045 a0001c0001t0032g0035	3	80	0.0375	-24	c.399 others(43): Show c.399-62362_399-62339delTCCTTCTTCCCTCCCTCCTTCCTT	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73067863	GATATATA others(17): Show GATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00639.hp1 others(35): Show HG00438.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02293.hp1 HG02451.hp2 HG02622.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03516.hp1 HG03834.hp1 HG03834.hp2 NA18959.hp1 NA18966.hp1 NA18966.hp2 NA18988.hp1 NA18988.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0035 a0001c0001t0036 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0016 a0001c0002t0020 a0001c0002t0021 a0001c0002t0023 a0001c0002t0031 a0001c0004t0001 a0001c0004t0002 a0001c0007t0019 a0001c0008t0002 a0001c0010t0039 a0001c0011t0034 a0002c0006t0026	a0001c0001t0001g0013 a0001c0001t0002g0005 a0001c0001t0003g0069 others(35): Show a0001c0001t0001g0013 a0001c0001t0002g0005 a0001c0001t0003g0069 a0001c0001t0004g0020 a0001c0001t0004g0061 a0001c0001t0005g0014 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0006g0008 a0001c0001t0007g0004 a0001c0001t0007g0016 a0001c0001t0010g0012 a0001c0001t0011g0007 a0001c0001t0017g0047 a0001c0001t0027g0030 a0001c0001t0028g0049 a0001c0001t0029g0046 a0001c0001t0035g0033 a0001c0001t0036g0070 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0003g0064 a0001c0002t0005g0026 a0001c0002t0005g0063 a0001c0002t0016g0044 a0001c0002t0020g0058 a0001c0002t0021g0038 a0001c0002t0023g0062 a0001c0002t0031g0057 a0001c0004t0001g0076 a0001c0004t0002g0078 a0001c0007t0019g0001 a0001c0008t0002g0050 a0001c0010t0039g0027 a0001c0011t0034g0003 a0002c0006t0026g0019	38	80	0.4750	-24	c.617 others(41): Show c.617-9439_617-9416delTATATATATATATATATATATATA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73124960	TATATATA others(17): Show TATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0014 a0001c0009t0014	a0001c0009t0014g0031 a0001c0009t0014g0031	1	80	0.0125	-24	c.124 others(41): Show c.1247+450_1247+473delTATATATATATATATATATACACA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73124964	TATATATA others(17): Show TATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02895.hp2 others(7): Show HG02109.hp1 HG02559.hp2 HG02895.hp2 HG02970.hp2 HG03041.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG06807.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0004 a0001c0001t0018 a0001c0002t0002 others(6): Show a0001c0001t0004 a0001c0001t0018 a0001c0002t0002 a0001c0002t0013 a0001c0002t0025 a0001c0002t0031 a0001c0003t0015 a0001c0003t0033 a0001c0005t0006	a0001c0001t0004g0048 a0001c0001t0018g0066 a0001c0002t0002g0041 others(7): Show a0001c0001t0004g0048 a0001c0001t0018g0066 a0001c0002t0002g0041 a0001c0002t0013g0042 a0001c0002t0013g0043 a0001c0002t0025g0065 a0001c0002t0031g0057 a0001c0003t0015g0077 a0001c0003t0033g0079 a0001c0005t0006g0017	10	80	0.1250	-24	c.124 others(41): Show c.1247+454_1247+477delTATATATATATATATACACACACA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73170420	CCACACAC others(17): Show CCACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0029 a0001c0001t0024g0029	1	80	0.0125	-24	c.157 others(41): Show c.1577+584_1577+607delACACACACACACACACACACACAC	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNRG_chr13_50010444_50025922	50015088	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	448	0.0022	-24	c.-40 others(33): Show c.-405_-382delAAAAAAATATATATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		355		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015090	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	448	0.0022	-24	c.-40 others(33): Show c.-403_-380delAAAAATATATATATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		353		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015092	AAAATATA others(17): Show AAAATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01071.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	448	0.0067	-24	c.-40 others(33): Show c.-401_-378delAAATATATATATATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		351		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015094	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	448	0.0022	-24	c.-39 others(33): Show c.-399_-376delATATATATATATATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		349		chr13	TogoVar
KCNS3_chr2_17873667_17937958	17921911	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02074.hp2 HG02080.hp1 others(9): Show HG00438.hp1 HG02074.hp2 HG02080.hp1 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03710.hp2 NA18939.hp2 NA18957.hp2 NA18959.hp1 NA18971.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005	a0001c0002t0001g0172 a0001c0002t0001g0180 a0001c0002t0001g0196 others(9): Show a0001c0002t0001g0172 a0001c0002t0001g0180 a0001c0002t0001g0196 a0001c0002t0001g0201 a0001c0002t0001g0210 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0226 a0001c0002t0001g0236 a0001c0002t0003g0103 a0001c0002t0005g0284 a0001c0002t0005g0285	12	384	0.0313	-24	c.-60 others(41): Show c.-60+4042_-60+4065delGTGTATATATATATATATATATAT	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNT1_chr9_135697185_135800502	135784482	GCTCCCTC others(17): Show GCTCCCTCCCTCCCTCCCTCCCTCC	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0158 a0001c0010t0001g0158	1	272	0.0037	-24	c.294 others(38): Show c.2944-30_2944-7delCCCTCCCTCCCTCCCTCCCTCCCT	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	25/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT2_chr1_196220779_196613440	196329950	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0091 a0001c0007t0001g0091	1	136	0.0074	-24	c.210 others(43): Show c.2103+1182_2103+1205delATATATATATATATATATATATAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	18/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196411059	CTCCTTCC others(17): Show CTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01109.hp1 others(9): Show HG00140.hp1 HG00741.hp2 HG01109.hp1 HG01175.hp2 HG01891.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG02965.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0004t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0004 a0001c0005t0001 a0001c0006t0001	a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0053 others(9): Show a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0002g0115 a0001c0004t0004g0002 a0001c0005t0001g0014 a0001c0005t0001g0016 a0001c0006t0001g0061 a0001c0006t0001g0067	12	136	0.0882	-24	c.118 others(45): Show c.1185+11967_1185+11990delAGGAAGGAAGGAAGGAAGGAAGGA	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	12/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196500274	AAGGAAGG others(17): Show AAGGAAGGGAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp2 HG02809.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0076 a0001c0001t0002g0048 a0001c0001t0002g0076	2	136	0.0147	-24	c.96- others(39): Show c.96-7957_96-7934delCCCTCCCTCCCTCCCTCCCTTCCT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196596054	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00673.hp2 others(27): Show HG00140.hp2 HG00639.hp2 HG00673.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01168.hp1 HG01175.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01981.hp1 HG02293.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03471.hp1 HG03492.hp1 HG03540.hp2 HG03834.hp1 HG04199.hp2 NA18984.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA19009.hp2 NA19062.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0008t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(27): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0006g0001 a0002c0008t0001g0020	30	136	0.2206	-24	c.95+ others(41): Show c.95+12137_95+12160delTATATATATATATATATATATACA	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar
KCNU1_chr8_36779374_36941125	36791569	TAGATAAA others(17): Show TAGATAAATTAAGCCCCTAGCAACA	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0016 a0002c0001t0001g0016	1	294	0.0034	-24	c.315 others(41): Show c.315+4146_315+4169delGATAAATTAAGCCCCTAGCAACAA	KCNU1	ENSG00000215262.8	transcript	ENST00000399881.8	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCTD11_chr17_7347162_7359944	7357549	GAGAAGAA others(17): Show GAGAAGAAGAAGAAGAAGAAGAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01106.hp2 HG01433.hp2 others(3): Show HG00642.hp2 HG01106.hp2 HG01433.hp2 HG01928.hp1 HG01981.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	6	418	0.0144	-24	c.39 others(35): Show c.3909_*3932delAGAAGAAGAAGAAGAAGAAGAAGA	KCTD11	ENSG00000213859.8	transcript	ENST00000333751.8	protein_coding		2606	WARNING_TRANSCRIPT_NO_START_CODON	chr17	TogoVar
KCTD14_chr11_78010715_78028276	78025118	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG06807.hp1 HG01074.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0154 a0001c0001t0005g0143 a0001c0001t0001g0154 a0001c0001t0005g0143	2	468	0.0043	-24	c.-18 others(35): Show c.-1893_-1870delTATATATATATATATATATATATA	KCTD14	ENSG00000151364.17	transcript	ENST00000353172.6	protein_coding		1843		chr11	TogoVar
KCTD16_chr5_144165873_144490686	144299132	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0012 a0001c0001t0063g0012	1	156	0.0064	-24	c.832 others(43): Show c.832+91588_832+91611delATATATATATATATATTTTTTTTT	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD1_chr18_26449910_26553553	26492605	CAATAAAT others(17): Show CAATAAATAAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG01884.hp2 others(16): Show HG01243.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03540.hp1 NA18906.hp2 NA19030.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0002t0002 a0001c0002t0007 a0001c0004t0003 a0002c0003t0001 a0002c0003t0004	a0001c0001t0001g0095 a0001c0001t0001g0129 a0001c0001t0001g0199 others(16): Show a0001c0001t0001g0095 a0001c0001t0001g0129 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0002g0144 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0004g0124 a0001c0001t0004g0207 a0001c0001t0007g0094 a0001c0002t0002g0027 a0001c0002t0002g0050 a0001c0002t0007g0029 a0001c0004t0003g0143 a0002c0003t0001g0306 a0002c0003t0004g0313	19	338	0.0562	-24	c.198 others(43): Show c.1988+8443_1988+8466delTATTTATTTATTTATTTATTTATT	KCTD1	ENSG00000134504.14	transcript	ENST00000580059.7	protein_coding	2/4			chr18	TogoVar
KCTD8_chr4_44168903_44453809	44235556	TATATATA others(17): Show TATATATATATATATATATATTTAG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	294	0.0034	-24	c.962 others(43): Show c.962-60330_962-60307delCTAAATATATATATATATATATAT	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KDELR2_chr7_6456089_6489152	6481969	GTTTATTT others(17): Show GTTTATTTATTTATTTATTTATTTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(258): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(198): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0002g0028 a0001c0001t0002g0097 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0261 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0162 a0001c0001t0003g0189 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0004g0017 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0008g0330 a0001c0001t0008g0331 a0001c0001t0008g0332 a0001c0001t0010g0019 a0001c0001t0012g0053 a0001c0001t0013g0227 a0001c0001t0014g0116 a0001c0001t0015g0161 a0001c0001t0016g0067	261	420	0.6214	-24	c.91+ others(39): Show c.91+1974_91+1997delTAAATAAATAAATAAATAAATAAA	KDELR2	ENSG00000136240.10	transcript	ENST00000258739.9	protein_coding	1/4			chr7	TogoVar
KDM1A_chr1_23014468_23088689	23017175	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0293 a0001c0003t0001g0293	1	352	0.0028	-24	c.-24 others(35): Show c.-2421_-2398delTTTATATATATATATATATATATA	KDM1A	ENSG00000004487.18	transcript	ENST00000400181.9	protein_coding		2292		chr1	TogoVar
KDM1B_chr6_18150422_18228854	18208619	ATATATAT others(17): Show ATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18522.hp1 HG02630.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0065 a0001c0001t0001g0069	2	392	0.0051	-24	c.186 others(41): Show c.1866+415_1866+438delATATATATTTTTTTTTTTTTTTTT	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
KDM4C_chr9_6752973_7180648	6873917	AGAGAGAG others(17): Show AGAGAGAGAGAGAGTGAGAGAGAGC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0197 a0001c0002t0002g0197	1	266	0.0038	-24	c.630 others(41): Show c.630-6081_630-6058delTGAGAGAGAGCGAGAGAGAGAGAG	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	7083621	ATAGCCAA others(17): Show ATAGCCAAAATTAGGTATTACAATC	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	266	0.0038	-24	c.242 others(45): Show c.2425-20062_2425-20039delAGCCAAAATTAGGTATTACAATCT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr9	TogoVar

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