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
KCNC2_chr12_75035078_75214839	75138979	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02896.hp2 HG01109.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0003t0009 a0001c0001t0010 a0001c0003t0009	a0001c0001t0010g0306 a0001c0003t0009g0296 a0001c0001t0010g0306 a0001c0003t0009g0296	2	316	0.0063	19	c.687 others(38): Show c.687+68299_687+68317dupTTTTTTTTTTTTTTTTTTT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCND2_chr7_120268175_120755337	120396113	C C	CTGCAAGA others(12): Show CTGCAAGATTAATAGGTACA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp2 HG02622.hp1 others(10): Show HG01192.hp2 HG02055.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03195.hp2 HG03453.hp1 HG03516.hp1 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0024 a0001c0001t0026	a0001c0001t0002g0020 a0001c0001t0004g0028 a0001c0001t0004g0029 others(10): Show a0001c0001t0002g0020 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0006g0068 a0001c0001t0006g0069 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0001t0015g0025 a0001c0001t0024g0027 a0001c0001t0026g0070	13	80	0.1625	19	c.111 others(42): Show c.1115+120366_1115+120367insTGCAAGATTAATAGGTACA	KCND2	ENSG00000184408.10	transcript	ENST00000331113.9	protein_coding	1/5			chr7	TogoVar
KCNE3_chr11_74449841_74472549	74456155	A A	ATATATAT others(12): Show ATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0204 a0001c0001t0066g0204	1	446	0.0022	19	c.10 others(30): Show c.1096_*1097insATATATATATATATATATA	KCNE3	ENSG00000175538.11	transcript	ENST00000310128.9	protein_coding	3/3	1096		chr11	TogoVar
KCNE3_chr11_74449841_74472549	74468729	T T	TTCCTTCC others(12): Show TTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0054 a0001c0002t0037g0054	1	446	0.0022	19	c.-15 others(30): Show c.-1522_-1521insGGAAGGAAGGAAGGAAGGA	KCNE3	ENSG00000175538.11	transcript	ENST00000310128.9	protein_coding		1181		chr11	TogoVar
KCNF1_chr2_10906934_10919225	10907437	C C	CCCATCAC others(12): Show CCCATCACCGTGTACTGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	436	0.0023	19	c.-49 others(30): Show c.-4990_-4989insCCATCACCGTGTACTGTGG	KCNF1	ENSG00000162975.5	transcript	ENST00000295082.3	protein_coding		4496		chr2	TogoVar
KCNG3_chr2_42437017_42498982	42452243	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	342	0.0029	19	c.666 others(36): Show c.666-7665_666-7664insATATATATATATATATATA	KCNG3	ENSG00000171126.8	transcript	ENST00000306078.2	protein_coding	1/1			chr2	TogoVar
KCNG3_chr2_42437017_42498982	42452243	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG04184.hp1 HG01255.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0250 a0001c0001t0003g0207 a0001c0001t0003g0250	2	342	0.0059	19	c.666 others(36): Show c.666-7665_666-7664insAAATATATATATATATATA	KCNG3	ENSG00000171126.8	transcript	ENST00000306078.2	protein_coding	1/1			chr2	TogoVar
KCNH1_chr1_210673314_211139148	210806836	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0060 a0001c0001t0025g0060	1	164	0.0061	19	c.146 others(38): Show c.1463-2671_1463-2670insATATATATATATATATATT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210806836	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	164	0.0061	19	c.146 others(38): Show c.1463-2671_1463-2670insATATATATATATATATATA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH5_chr14_62694464_63050458	62709232	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	224	0.0045	19	c.202 others(36): Show c.2020-796_2020-778dupTTTTTTTTTTTTTTTTTTT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	10/10			chr14	TogoVar
KCNH6_chr17_63518358_63551727	63533073	G G	GGCCTGGC others(12): Show GGCCTGGCTTCAGTACCCAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	324	0.0031	19	c.676 others(34): Show c.676-809_676-791dupTGGCTTCAGTACCCATGCC	KCNH6	ENSG00000173826.15	transcript	ENST00000314672.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
KCNIP1_chr5_170499020_170741632	170568648	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0005 a0001c0001t0009g0005	1	218	0.0046	19	c.61+ others(36): Show c.61+64022_61+64040dupAAAAAAAAAAAAAAAAAAA	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNIP4_chr4_20723606_21953772	20988000	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02572.hp2 HG01106.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0014 a0001c0002t0004g0028 a0001c0001t0001g0014 a0001c0002t0004g0028	2	80	0.0250	19	c.62- others(38): Show c.62-105310_62-105292dupTTTTTTTTTTTTTTTTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21320964	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0023 a0001c0001t0015g0023	1	80	0.0125	19	c.62- others(38): Show c.62-438256_62-438255insTTTTTTTTTTTTTTTTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21388091	A A	AGAAAGAT others(12): Show AGAAAGATTTCAGGTGTGCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01433.hp1 HG01517.hp1 others(39): Show HG01243.hp2 HG01433.hp1 HG01517.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03239.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18971.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0005t0003	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 others(39): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0038 a0001c0001t0002g0063 a0001c0001t0003g0002 a0001c0001t0003g0030 a0001c0001t0003g0061 a0001c0001t0003g0079 a0001c0001t0004g0026 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0067 a0001c0001t0005g0034 a0001c0001t0005g0072 a0001c0001t0006g0078 a0001c0001t0007g0046 a0001c0001t0009g0004 a0001c0001t0009g0057 a0001c0001t0013g0059 a0001c0001t0014g0077 a0001c0002t0001g0009 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0003g0008 a0001c0002t0006g0053 a0001c0002t0008g0047 a0001c0005t0003g0007	42	80	0.5250	19	c.62- others(38): Show c.62-505401_62-505383dupAGCACACCTGAAATCTTTC	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21508729	T T	TGCATAAT others(12): Show TGCATAATGGAGATAATACA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp2 HG02886.hp2 others(8): Show HG02257.hp2 HG02647.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03486.hp1 HG03654.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 a0001c0004t0004	a0001c0001t0001g0024 a0001c0001t0001g0070 a0001c0001t0002g0021 others(8): Show a0001c0001t0001g0024 a0001c0001t0001g0070 a0001c0001t0002g0021 a0001c0001t0003g0018 a0001c0001t0003g0080 a0001c0001t0004g0067 a0001c0001t0005g0027 a0001c0001t0009g0004 a0001c0001t0009g0057 a0001c0002t0001g0009 a0001c0004t0004g0058	11	80	0.1375	19	c.61+ others(38): Show c.61+439841_61+439842insTGTATTATCTCCATTATGC	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21556920	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0062 a0001c0002t0005g0062	1	80	0.0125	19	c.61+ others(38): Show c.61+391650_61+391651insTTTTTTTTTTTTTTTTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21556930	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	80	0.0125	19	c.61+ others(38): Show c.61+391640_61+391641insGTTTTTTTTTTTTTTTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21556930	A A	AAAAAAAA others(12): Show AAAAAAAAACAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01517.hp1 HG02145.hp2 others(7): Show HG01243.hp1 HG01517.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp2 HG02922.hp1 HG02922.hp2 HG03195.hp2 NA19030.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0064 others(7): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0002g0074 a0001c0001t0003g0061 a0001c0001t0004g0041 a0001c0001t0010g0033 a0001c0001t0013g0059	10	80	0.1250	19	c.61+ others(38): Show c.61+391640_61+391641insGTTTTTTTTTGTTTTTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21569234	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	80	0.0125	19	c.61+ others(38): Show c.61+379318_61+379336dupTTTTTTTTTTTTTTTTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21758747	G G	GCTTTGTT others(12): Show GCTTTGTTTCTGCCTGCTTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG01123.hp2 others(22): Show HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01517.hp1 HG01517.hp2 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02698.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03098.hp2 HG03486.hp2 HG03579.hp2 HG03654.hp2 NA18950.hp2 NA19030.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0004t0004	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 others(22): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0038 a0001c0001t0002g0076 a0001c0001t0003g0061 a0001c0001t0003g0080 a0001c0001t0006g0078 a0001c0001t0008g0069 a0001c0001t0009g0057 a0001c0001t0013g0059 a0001c0001t0014g0077 a0001c0001t0015g0023 a0001c0002t0001g0006 a0001c0002t0001g0055 a0001c0002t0002g0011 a0001c0002t0004g0028 a0001c0002t0006g0050 a0001c0002t0008g0010 a0001c0004t0004g0058	25	80	0.3125	19	c.61+ others(38): Show c.61+189823_61+189824insGAAGCAGGCAGAAACAAAG	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ10_chr1_160032467_160075160	160067949	A A	AGGTCAAG others(12): Show AGGTCAAGGGAAGGAAGGTC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	408	0.0025	19	c.-1+ others(34): Show c.-1+2054_-1+2072dupGACCTTCCTTCCCTTGACC	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ14_chr19_48450574_48471980	48461550	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG03139.hp1 HG01169.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0076 a0001c0001t0006g0048 a0001c0001t0001g0076 a0001c0001t0006g0048	2	392	0.0051	19	c.-55 others(34): Show c.-55-120_-55-119insAAAAAAAAAAAAAAAAAAG	KCNJ14	ENSG00000182324.7	transcript	ENST00000342291.3	protein_coding	1/2			chr19	TogoVar
KCNJ16_chr17_70070225_70140608	70103324	A A	ATACACAC others(12): Show ATACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA21309.hp2 HG00423.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0213 a0001c0001t0002g0067 a0001c0001t0002g0213	2	330	0.0061	19	c.-19 others(38): Show c.-191+2558_-191+2559insTACACACACACACACATAT	KCNJ16	ENSG00000153822.15	transcript	ENST00000392671.6	protein_coding	2/3			chr17	TogoVar
KCNJ2_chr17_70164532_70185044	70183749	C C	CATTCTCT others(12): Show CATTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	448	0.0022	19	c.74 others(30): Show c.7426_*7427insATTCTCTCTCTCTCTCTCT	KCNJ2	ENSG00000123700.5	transcript	ENST00000243457.4	protein_coding		3706		chr17	TogoVar
KCNJ6_chr21_37602373_37921457	37615244	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp2 HG02895.hp2 HG01257.hp2 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0167 a0002c0005t0170 a0001c0001t0167 a0002c0005t0170	a0001c0001t0167g0015 a0002c0005t0170g0136 a0001c0001t0167g0015 a0002c0005t0170g0136	2	198	0.0101	19	c.98 others(30): Show c.9896_*9914dupAAAAAAAAAAAAAAAAAAA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	9914		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37661614	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0176 a0001c0001t0176	a0001c0001t0176g0165 a0001c0001t0176g0165	1	198	0.0051	19	c.947 others(38): Show c.947-36149_947-36131dupAAAAAAAAAAAAAAAAAAA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37863846	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0142 a0001c0001t0028g0142	1	198	0.0051	19	c.-27 others(38): Show c.-27-23138_-27-23137insAAAAAAAAAAAAAAAAAAA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	1/3			chr21	TogoVar
KCNK10_chr14_88175108_88328269	88220416	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0073 a0001c0002t0002g0073	1	334	0.0030	19	c.681 others(36): Show c.681+6940_681+6958dupTTTTTTTTTTTTTTTTTTT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	4/6			chr14	TogoVar
KCNK10_chr14_88175108_88328269	88274549	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	334	0.0030	19	c.53- others(36): Show c.53-10999_53-10998insTTTTTTTTTTTTTTTTTTT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK10_chr14_88175108_88328269	88274566	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp1 HG02145.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0290 a0001c0001t0019g0209 a0001c0001t0002g0290 a0001c0001t0019g0209	2	334	0.0060	19	c.53- others(36): Show c.53-11016_53-11015insATTTTTTTTTTTTTTTTTT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK12_chr2_47504290_47575985	47535456	G G	GGGCGCAC others(12): Show GGGCGCACCCCTCCTCTAAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0054 a0001c0001t0058g0054	1	388	0.0026	19	c.392 others(38): Show c.392-13667_392-13649dupATTAGAGGAGGGGTGCGCC	KCNK12	ENSG00000184261.5	transcript	ENST00000327876.5	protein_coding	1/1			chr2	TogoVar
KCNK13_chr14_90056994_90190853	90101790	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0191 a0005c0007t0001g0191	1	320	0.0031	19	c.334 others(38): Show c.334+39255_334+39273dupAAAAAAAAAAAAAAAAAAA	KCNK13	ENSG00000152315.5	transcript	ENST00000282146.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
KCNK13_chr14_90056994_90190853	90143176	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp2 HG01934.hp2 others(3): Show HG01261.hp1 HG01261.hp2 HG01934.hp2 HG02293.hp1 HG03834.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0004t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0004t0003 a0002c0002t0001	a0001c0001t0002g0138 a0001c0001t0003g0036 a0001c0001t0003g0128 others(3): Show a0001c0001t0002g0138 a0001c0001t0003g0036 a0001c0001t0003g0128 a0001c0004t0003g0057 a0001c0004t0003g0224 a0002c0002t0001g0230	6	320	0.0188	19	c.335 others(38): Show c.335-40933_335-40932insCTTTCTTTCTTTCTTTCTT	KCNK13	ENSG00000152315.5	transcript	ENST00000282146.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
KCNK13_chr14_90056994_90190853	90179713	T T	TTACGTAT others(12): Show TTACGTATTGAAAGGTACCA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0080 a0001c0004t0003g0080	1	320	0.0031	19	c.335 others(36): Show c.335-4397_335-4379dupTACGTATTGAAAGGTACCA	KCNK13	ENSG00000152315.5	transcript	ENST00000282146.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
KCNK18_chr10_117192489_117215299	117192734	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0012 a0001c0001t0000g0012	1	430	0.0023	19	c.-47 others(30): Show c.-4755_-4754insTTTTTTTTTTTTTTTTTTT	KCNK18	ENSG00000186795.1	transcript	ENST00000334549.1	protein_coding		4754		chr10	TogoVar
KCNK2_chr1_215077737_215242090	215209463	T T	TATAATAT others(12): Show TATAATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0093 a0001c0002t0055g0093	1	260	0.0039	19	c.963 others(38): Show c.963+14374_963+14375insATATATATTATATATAATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215230526	T T	TATATATA others(12): Show TATATATACACATAACAGCC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0022 a0001c0001t0017g0022	1	260	0.0039	19	c.964 others(36): Show c.964-4296_964-4295insACACATAACAGCCATATAT	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215230528	T T	TATATATA others(12): Show TATATATACACATAACAGCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0097 a0001c0002t0009g0097	1	260	0.0039	19	c.964 others(36): Show c.964-4296_964-4295insATACACATAACAGCCATAT	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215236045	A A	AATCTATC others(12): Show AATCTATCTATCATCTATCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01358.hp1 HG01978.hp1 others(16): Show HG00639.hp2 HG01358.hp1 HG01978.hp1 HG01978.hp2 HG02523.hp2 HG02717.hp1 HG02922.hp2 HG03017.hp2 HG03491.hp1 HG03834.hp1 HG03927.hp1 NA18906.hp2 NA18954.hp1 NA18955.hp2 NA18968.hp1 NA18980.hp1 NA18992.hp1 NA19011.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0016 a0001c0001t0049 others(2): Show a0001c0001t0004 a0001c0001t0016 a0001c0001t0049 a0001c0002t0016 a0001c0002t0060	a0001c0001t0004g0119 a0001c0001t0004g0161 a0001c0001t0004g0163 others(16): Show a0001c0001t0004g0119 a0001c0001t0004g0161 a0001c0001t0004g0163 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0191 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0202 a0001c0001t0004g0217 a0001c0001t0004g0226 a0001c0001t0004g0256 a0001c0001t0016g0027 a0001c0001t0016g0037 a0001c0001t0016g0053 a0001c0001t0049g0255 a0001c0002t0016g0099 a0001c0002t0016g0249 a0001c0002t0060g0173	19	260	0.0731	19	c.91 others(28): Show c.911_*912insATCTATCTATCTATCTATC	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	7/7	912	INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK3_chr2_26687722_26738420	26690408	T T	TTTTCCCT others(12): Show TTTTCCCTTTTCCAAAGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02572.hp1 HG02615.hp1 others(3): Show HG02257.hp1 HG02572.hp1 HG02615.hp1 HG02965.hp2 HG03139.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0008 a0001c0001t0001 a0001c0001t0005 a0001c0002t0008	a0001c0001t0001g0006 a0001c0001t0001g0181 a0001c0001t0005g0182 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0181 a0001c0001t0005g0182 a0001c0002t0008g0183	6	336	0.0179	19	c.-24 others(30): Show c.-2468_-2467insTTTCCCTTTTCCAAAGCTC	KCNK3	ENSG00000171303.8	transcript	ENST00000302909.4	protein_coding		2313		chr2	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0090 a0001c0001t0016g0090	1	432	0.0023	19	c.-12 others(30): Show c.-1284_-1283insATATATTTTTTTTTTTTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178758972	T T	TATATATA others(12): Show TATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	232	0.0043	19	c.-67 others(38): Show c.-67-48363_-67-48362insCTCCAAGAGGGATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759344	G G	GGATATAT others(12): Show GGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0195 a0001c0002t0001g0195	1	232	0.0043	19	c.-67 others(38): Show c.-67-47999_-67-47998insGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759402	G G	GGATATAT others(12): Show GGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	232	0.0043	19	c.-67 others(38): Show c.-67-47941_-67-47940insGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759434	G G	GGATATAT others(12): Show GGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	232	0.0043	19	c.-67 others(38): Show c.-67-47909_-67-47908insGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNN3_chr1_154692455_154875281	154844138	A A	ACCCTCAC others(12): Show ACCCTCACTCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	238	0.0042	19	c.934 others(38): Show c.934-21973_934-21955dupGGAGGGGAAGGAGTGAGGG	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	1/7			chr1	TogoVar
KCNQ1_chr11_2440008_2854105	2610716	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	208	0.0048	19	c.139 others(40): Show c.1393+21873_1393+21891dupTTTTTTTTTTTTTTTTTTT	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ2_chr20_63395208_63477655	63432797	A A	AGGATCCA others(12): Show AGGATCCACCCACAGAGAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0139 a0001c0002t0002g0139	1	330	0.0030	19	c.111 others(38): Show c.1118+1011_1118+1012insCTTCTCTGTGGGTGGATCC	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63445707	A A	ACCCTGTC others(12): Show ACCCTGTCTGAGCTGGGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(63): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01256.hp1 HG01258.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02738.hp1 HG03239.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp2 NA18612.hp2 NA18939.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18952.hp2 NA18964.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18990.hp2 NA18999.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19064.hp2 NA19074.hp1 NA19081.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0003 a0001c0008 a0001c0009 others(4): Show a0001c0003 a0001c0008 a0001c0009 a0002c0006 a0002c0019 a0003c0026 a0005c0027	a0001c0003t0003 a0001c0003t0010 a0001c0003t0013 others(24): Show a0001c0003t0003 a0001c0003t0010 a0001c0003t0013 a0001c0003t0015 a0001c0003t0017 a0001c0003t0022 a0001c0003t0029 a0001c0003t0100 a0001c0003t0102 a0001c0003t0103 a0001c0003t0104 a0001c0003t0106 a0001c0003t0107 a0001c0003t0108 a0001c0008t0027 a0001c0008t0028 a0001c0008t0099 a0001c0009t0003 a0001c0009t0098 a0002c0006t0001 a0002c0006t0016 a0002c0006t0037 a0002c0006t0039 a0002c0006t0101 a0002c0019t0038 a0003c0026t0097 a0005c0027t0105	a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0274 others(63): Show a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0274 a0001c0003t0003g0278 a0001c0003t0003g0279 a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0286 a0001c0003t0003g0288 a0001c0003t0003g0298 a0001c0003t0003g0306 a0001c0003t0003g0316 a0001c0003t0003g0317 a0001c0003t0010g0178 a0001c0003t0010g0208 a0001c0003t0010g0210 a0001c0003t0010g0253 a0001c0003t0013g0292 a0001c0003t0013g0299 a0001c0003t0013g0300 a0001c0003t0013g0302 a0001c0003t0013g0303 a0001c0003t0015g0031 a0001c0003t0017g0313 a0001c0003t0017g0319 a0001c0003t0017g0320 a0001c0003t0017g0321 a0001c0003t0017g0322 a0001c0003t0022g0111 a0001c0003t0029g0273 a0001c0003t0029g0307 a0001c0003t0100g0268 a0001c0003t0102g0267 a0001c0003t0103g0301 a0001c0003t0104g0287 a0001c0003t0106g0311 a0001c0003t0107g0275 a0001c0003t0108g0263 a0001c0008t0027g0276 a0001c0008t0027g0310 a0001c0008t0027g0312 a0001c0008t0028g0277 a0001c0008t0028g0285 a0001c0008t0028g0289 a0001c0008t0099g0280 a0001c0009t0003g0262 a0001c0009t0003g0281 a0001c0009t0003g0294 a0001c0009t0003g0314 a0001c0009t0098g0261 a0002c0006t0001g0112 a0002c0006t0001g0159 a0002c0006t0016g0270 a0002c0006t0016g0272 a0002c0006t0016g0297 a0002c0006t0016g0309 a0002c0006t0016g0318 a0002c0006t0037g0269 a0002c0006t0037g0271 a0002c0006t0039g0305 a0002c0006t0101g0308 a0002c0019t0038g0290 a0002c0019t0038g0291 a0003c0026t0097g0260 a0005c0027t0105g0293	66	330	0.2000	19	c.388 others(34): Show c.388-362_388-344dupCCTCCCAGCTCAGACAGGG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	2/16			chr20	TogoVar

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