Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KCNAB1_chr3_156115578_156543605	156428488	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	124	0.0081	18	c.319 others(35): Show c.319+6858_319+6875dupACACACACACACACACAC	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNB2_chr8_72532225_72943349	72725595	A A	ATATATAT others(11): Show ATATATATATATGTATGTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0035 a0001c0004t0001g0035	1	164	0.0061	18	c.579 others(39): Show c.579+157293_579+157294insGTATGTGTATATATATAT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNB2_chr8_72532225_72943349	72851826	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	164	0.0061	18	c.580 others(37): Show c.580-84104_580-84087dupAAAAAAAAAAAAAAAAAA	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNC1_chr11_17729781_17788057	17734263	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01256.hp2 HG01258.hp1 others(21): Show HG00544.hp1 HG01256.hp2 HG01258.hp1 HG01891.hp2 HG01978.hp2 HG02056.hp1 HG02257.hp2 HG02258.hp2 HG02572.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03041.hp2 HG03492.hp2 HG03516.hp1 HG04115.hp1 NA18952.hp2 NA18967.hp1 NA18972.hp1 NA18980.hp2 NA19000.hp1 NA19068.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0001t0029 a0001c0001t0031 a0001c0002t0003 a0001c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0144 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0257 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0002g0009 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0011g0252 a0001c0001t0013g0166 a0001c0001t0029g0081 a0001c0001t0031g0070 a0001c0002t0003g0113 a0001c0008t0001g0238	24	332	0.0723	18	c.-17 others(29): Show c.-1740_-1739insGTGTGTGTGTGTGTGTGT	KCNC1	ENSG00000129159.9	transcript	ENST00000265969.8	protein_coding		517		chr11	TogoVar
KCNC2_chr12_75035078_75214839	75075458	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	316	0.0032	18	c.688 others(37): Show c.688-24159_688-24142dupATATATATATATATATAT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75084254	T T	TAGATAGA others(11): Show TAGATAGATAGATTAGATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19240.hp1 HG02486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0064 a0001c0001t0001g0024 a0001c0001t0001g0064	2	316	0.0063	18	c.688 others(37): Show c.688-32938_688-32937insTATCTAATCTATCTATCT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75086675	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0223 a0001c0001t0003g0223	1	316	0.0032	18	c.688 others(37): Show c.688-35359_688-35358insATATATATATATATATAT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75086681	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	316	0.0032	18	c.688 others(37): Show c.688-35365_688-35364insATATATATATATATATTT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75086681	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0033 a0001c0001t0001g0035	2	316	0.0063	18	c.688 others(37): Show c.688-35382_688-35365dupATATATATATATATATAT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75138979	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	316	0.0032	18	c.687 others(37): Show c.687+68300_687+68317dupTTTTTTTTTTTTTTTTTT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75177032	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03139.hp2 HG02622.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0015 a0001c0001t0011 a0001c0001t0015	a0001c0001t0011g0085 a0001c0001t0015g0091 a0001c0001t0011g0085 a0001c0001t0015g0091	2	316	0.0063	18	c.687 others(37): Show c.687+30247_687+30264dupTATATATATATATATATA	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC3_chr19_50306937_50334377	50307492	T T	TTAATTCT others(11): Show TTAATTCTTATCAGAATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0183 a0001c0001t0071g0183	1	380	0.0026	18	c.86 others(29): Show c.8605_*8622dupCCATTCTGATAAGAATTA	KCNC3	ENSG00000131398.15	transcript	ENST00000477616.2	protein_coding		4444		chr19	TogoVar
KCND2_chr7_120268175_120755337	120351244	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0080 a0001c0001t0008g0080	1	80	0.0125	18	c.111 others(39): Show c.1115+75503_1115+75520dupATATATATATATATATAT	KCND2	ENSG00000184408.10	transcript	ENST00000331113.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
KCND2_chr7_120268175_120755337	120595591	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0067 a0001c0001t0010g0067	1	80	0.0125	18	c.111 others(41): Show c.1116-137307_1116-137290dupTATATATATATATATATA	KCND2	ENSG00000184408.10	transcript	ENST00000331113.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
KCND2_chr7_120268175_120755337	120678343	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0025 a0001c0001t0015g0025	1	80	0.0125	18	c.111 others(39): Show c.1116-54547_1116-54530dupTATATATATATATATATA	KCND2	ENSG00000184408.10	transcript	ENST00000331113.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
KCND3_chr1_111765662_111994668	111866579	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0011 a0001c0004t0004g0011	1	226	0.0044	18	c.110 others(39): Show c.1107-79491_1107-79474dupGTGTGTGTGTGTGTGTGT	KCND3	ENSG00000171385.11	transcript	ENST00000302127.5	protein_coding	2/7			chr1	TogoVar
KCND3_chr1_111765662_111994668	111965438	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02056.hp1 HG02135.hp2 others(9): Show HG01109.hp1 HG02056.hp1 HG02135.hp2 HG02155.hp2 HG02258.hp1 HG02615.hp1 HG02738.hp2 NA19007.hp2 NA19043.hp1 NA19064.hp1 NA19078.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0026 a0001c0001t0034 a0001c0006t0007 a0001c0007t0004	a0001c0001t0001g0036 a0001c0001t0001g0135 a0001c0001t0001g0174 others(9): Show a0001c0001t0001g0036 a0001c0001t0001g0135 a0001c0001t0001g0174 a0001c0001t0002g0044 a0001c0001t0003g0027 a0001c0001t0003g0209 a0001c0001t0004g0012 a0001c0001t0008g0005 a0001c0001t0026g0136 a0001c0001t0034g0043 a0001c0006t0007g0017 a0001c0007t0004g0015	12	226	0.0531	18	c.110 others(39): Show c.1106+16165_1106+16182dupTGTGTGTGTGTGTGTGTG	KCND3	ENSG00000171385.11	transcript	ENST00000302127.5	protein_coding	2/7			chr1	TogoVar
KCNE2_chr21_34359006_34376381	34368229	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03654.hp1 HG00544.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	2	434	0.0046	18	c.-12 others(35): Show c.-12-2223_-12-2206dupATATATATATATATATAT	KCNE2	ENSG00000159197.4	transcript	ENST00000290310.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr21	TogoVar
KCNE2_chr21_34359006_34376381	34368229	A A	ACAATATA others(11): Show ACAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	434	0.0023	18	c.-12 others(35): Show c.-12-2238_-12-2237insCAATATATATATATATAT	KCNE2	ENSG00000159197.4	transcript	ENST00000290310.4	protein_coding	1/1			chr21	TogoVar
KCNE3_chr11_74449841_74472549	74456155	A A	AATATATA others(11): Show AATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG01433.hp1 HG01517.hp2 others(13): Show HG00099.hp2 HG01433.hp1 HG01517.hp2 HG02015.hp2 HG02135.hp2 HG02559.hp2 HG03098.hp2 HG03654.hp2 NA18951.hp2 NA18957.hp1 NA18959.hp1 NA18971.hp1 NA19054.hp1 NA19079.hp1 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0067 a0001c0001t0010 a0001c0001t0067	a0001c0001t0010g0009 a0001c0001t0010g0049 a0001c0001t0010g0121 others(7): Show a0001c0001t0010g0009 a0001c0001t0010g0049 a0001c0001t0010g0121 a0001c0001t0010g0142 a0001c0001t0010g0173 a0001c0001t0010g0186 a0001c0001t0010g0195 a0001c0001t0010g0197 a0001c0001t0010g0279 a0001c0001t0067g0256	16	446	0.0359	18	c.10 others(29): Show c.1079_*1096dupATATATATATATATATAT	KCNE3	ENSG00000175538.11	transcript	ENST00000310128.9	protein_coding	3/3	1096		chr11	TogoVar
KCNG2_chr18_79792938_79905100	79865894	C C	CTGGGTGC others(11): Show CTGGGTGCTGAGAGGTCTG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0069 a0002c0002t0002g0069	1	312	0.0032	18	c.624 others(35): Show c.624+1605_624+1606insGGTGCTGAGAGGTCTGTG	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79872280	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	312	0.0032	18	c.624 others(35): Show c.624+7995_624+8012dupTTTTTTTTTTTTTTTTTT	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG3_chr2_42437017_42498982	42452243	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp2 NA18940.hp2 others(2): Show HG02165.hp1 HG02165.hp2 NA18940.hp2 NA18952.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0056 a0001c0001t0003g0057 others(2): Show a0001c0001t0003g0049 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0185 a0001c0001t0003g0258	5	342	0.0146	18	c.666 others(35): Show c.666-7665_666-7664insAATATATATATATATATA	KCNG3	ENSG00000171126.8	transcript	ENST00000306078.2	protein_coding	1/1			chr2	TogoVar
KCNG3_chr2_42437017_42498982	42452243	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	342	0.0029	18	c.666 others(35): Show c.666-7665_666-7664insAAAATATATATATATATA	KCNG3	ENSG00000171126.8	transcript	ENST00000306078.2	protein_coding	1/1			chr2	TogoVar
KCNH1_chr1_210673314_211139148	210788685	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0122 a0001c0001t0023g0122	1	164	0.0061	18	c.191 others(37): Show c.1915+8805_1915+8822dupAAAAAAAAAAAAAAAAAA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	9/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210795962	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	164	0.0061	18	c.191 others(37): Show c.1915+1528_1915+1545dupGTGTGTGTGTGTGTGTGT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	9/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210806822	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	164	0.0061	18	c.146 others(37): Show c.1463-2657_1463-2656insATATATATATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210832907	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 homoSapiens_chm13v2.hp1 HG00099.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0102 a0001c0001t0006g0030 a0001c0001t0003g0102 a0001c0001t0006g0030	2	164	0.0122	18	c.146 others(39): Show c.1463-28742_1463-28741insATATATATATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210856877	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0015 a0001c0005t0005g0015	1	164	0.0061	18	c.146 others(39): Show c.1463-52729_1463-52712dupTATATATATATATATATA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210856898	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03098.hp1 HG02280.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0014 a0001c0001t0019 a0001c0002t0014	a0001c0001t0019g0109 a0001c0002t0014g0149 a0001c0001t0019g0109 a0001c0002t0014g0149	2	164	0.0122	18	c.146 others(39): Show c.1463-52733_1463-52732insTTATATATATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210917229	G G	GAGAGAAA others(11): Show GAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03017.hp2 HG00408.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0081 a0001c0001t0004g0032 a0001c0001t0002g0081 a0001c0001t0004g0032	2	164	0.0122	18	c.146 others(37): Show c.1462+2410_1462+2411insTTCTTTCTTTCTTTCTCT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	211045041	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0030	1	164	0.0061	18	c.559 others(37): Show c.559-25803_559-25786dupATATATATATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	5/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	211050989	T T	TTTGTTGT others(11): Show TTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	164	0.0061	18	c.559 others(37): Show c.559-31751_559-31734dupCAACAACAACAACAACAA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	5/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	211115701	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01256.hp2 HG01258.hp2 others(7): Show HG01074.hp1 HG01256.hp2 HG01258.hp2 HG02004.hp2 HG02280.hp1 HG02922.hp1 HG04228.hp1 NA18959.hp2 NA19060.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0002t0001	a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0134 others(7): Show a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0134 a0001c0001t0002g0141 a0001c0001t0003g0115 a0001c0001t0004g0107 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0017g0151 a0001c0002t0001g0125	10	164	0.0610	18	c.80- others(33): Show c.80-8325_80-8324insTATATATATATATATATA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	1/10			chr1	TogoVar
KCNH2_chr7_150939961_150983321	150962627	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp1 HG01255.hp2 others(11): Show HG01074.hp2 HG01099.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01517.hp2 HG01943.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02300.hp1 HG03927.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0001 a0001c0002t0001 a0002c0004t0001	a0001c0002t0001g0168 a0002c0004t0001g0030 a0002c0004t0001g0077 others(10): Show a0001c0002t0001g0168 a0002c0004t0001g0030 a0002c0004t0001g0077 a0002c0004t0001g0250 a0002c0004t0001g0254 a0002c0004t0001g0259 a0002c0004t0001g0260 a0002c0004t0001g0261 a0002c0004t0001g0266 a0002c0004t0001g0267 a0002c0004t0001g0271 a0002c0004t0001g0274 a0002c0004t0001g0275	14	358	0.0391	18	c.308 others(35): Show c.308-2909_308-2892dupCTCTCTCTCTCTCTCTCT	KCNH2	ENSG00000055118.17	transcript	ENST00000262186.10	protein_coding	2/14			chr7	TogoVar
KCNH5_chr14_62694464_63050458	62709232	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19000.hp1 HG02809.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0166 a0001c0001t0003g0149 a0001c0001t0003g0166	2	224	0.0089	18	c.202 others(35): Show c.2020-795_2020-778dupTTTTTTTTTTTTTTTTTT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	10/10			chr14	TogoVar
KCNH5_chr14_62694464_63050458	62910941	A A	ACACACAC others(11): Show ACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	224	0.0045	18	c.136 others(39): Show c.1369+39191_1369+39192insGGTGTGTGTGTGTGTGTG	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar
KCNH5_chr14_62694464_63050458	62961859	C C	CAGATGGA others(11): Show CAGATGGAGATGCAGATGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0193 a0002c0002t0003g0193	1	224	0.0045	18	c.943 others(37): Show c.943-11301_943-11300insCCATCTGCATCTCCATCT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	6/10			chr14	TogoVar
KCNH7_chr2_162366407_162843767	162429383	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	100	0.0100	18	c.195 others(37): Show c.1954+5797_1954+5814dupAAAAAAAAAAAAAAAAAA	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	8/15			chr2	TogoVar
KCNH7_chr2_162366407_162843767	162689143	C C	CTATTATT others(11): Show CTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02258.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0024 a0001c0007t0001g0012 a0001c0001t0001g0024 a0001c0007t0001g0012	2	100	0.0200	18	c.307 others(39): Show c.307+147376_307+147393dupATAATAATAATAATAATA	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KCNH7_chr2_162366407_162843767	162694477	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0010 a0003c0004t0001g0010	1	100	0.0100	18	c.307 others(39): Show c.307+142042_307+142059dupACACACACACACACACAC	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KCNH7_chr2_162366407_162843767	162820209	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	100	0.0100	18	c.307 others(37): Show c.307+16310_307+16327dupCACACACACACACACACA	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KCNH8_chr3_19143510_19540642	19206168	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02258.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0008 a0001c0003t0001g0120 a0001c0001t0001g0008 a0001c0003t0001g0120	2	134	0.0149	18	c.77- others(35): Show c.77-47485_77-47484insGTGTATATATATATATAT	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19226623	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp1 HG02145.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0001c0009 a0002c0002	a0001c0009t0001 a0002c0002t0001 a0001c0009t0001 a0002c0002t0001	a0001c0009t0001g0091 a0002c0002t0001g0002 a0001c0009t0001g0091 a0002c0002t0001g0002	2	134	0.0149	18	c.77- others(35): Show c.77-27027_77-27010dupACACACACACACACACAC	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19258945	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0102 a0001c0004t0001g0102	1	134	0.0075	18	c.310 others(35): Show c.310+5059_310+5060insATATATATATATATATAT	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19260967	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG06807.hp2 NA20300.hp1 HG02809.hp2 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0106 a0001c0001t0001g0126 a0001c0001t0007g0107 a0001c0001t0001g0106 a0001c0001t0001g0126 a0001c0001t0007g0107	3	134	0.0224	18	c.310 others(35): Show c.310+7089_310+7106dupATATATATATATATATAT	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19326356	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0053 a0001c0006t0001g0053	1	134	0.0075	18	c.443 others(37): Show c.443-16221_443-16204dupTATATATATATATATATA	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19403361	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0102 a0001c0004t0001g0102	1	134	0.0075	18	c.117 others(37): Show c.1177+8072_1177+8089dupTATATATATATATATATA	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP1_chr5_170499020_170741632	170499687	G G	GAGGCAGC others(11): Show GAGGCAGCAGGGAGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	218	0.0046	18	c.-48 others(29): Show c.-4886_-4885insAGGCAGCAGGGAGGAAGA	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding		4332		chr5	TogoVar
KCNIP1_chr5_170499020_170741632	170517611	A A	ATGATAAT others(11): Show ATGATAATAGTAATGATGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0005 a0001c0001t0009g0005	1	218	0.0046	18	c.61+ others(35): Show c.61+12984_61+13001dupATAGTAATGATGGTGATA	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar

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