Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
JMJD8_chr16_676670_689334	678644	T T	TTACTCGG others(35): Show TTACTCGGCCTGGGTTCCATGCTTCTTGGCTGGCCTAGCATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	42	c.41 others(53): Show c.4149_*4150insGGATGCTAGGCCAGCCAAGAAGCATGGAACCCAG GCCGAGTA	JMJD8	ENSG00000161999.13	transcript	ENST00000609261.6	protein_coding		3025		chr16	TogoVar
JPH2_chr20_44101590_44192188	44126139	A A	AGAGAGAG others(35): Show AGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0104 a0002c0002t0104	a0002c0002t0104g0289 a0002c0002t0104g0289	1	258	0.0039	42	c.117 others(61): Show c.1170-7517_1170-7516insCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCTCTCTCTCTC	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134255	A A	AAATATTT others(35): Show AAATATTTATTATAAATATAATAAATATTTATTATAAATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0109 a0004c0015t0109	a0004c0015t0109g0293 a0004c0015t0109g0293	1	333	0.0030	42	c.117 others(63): Show c.1170-15633_1170-15632insATATATTTATAATAAATATTTATT ATATTTATAATAAATATT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH3_chr16_87597508_87703156	87604287	C C	CCTGCTGC others(35): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0007 a0001c0003t0002g0008	2	195	0.0103	42	c.382 others(57): Show c.382+760_382+801dupCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTGCTG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87620479	A A	AAGAGAGG others(35): Show AAGAGAGGGAGAGAAGGAGAGAAGAGAGGGAGAGAAGGAGAGG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0117 a0001c0005t0001g0117	1	177	0.0056	42	c.382 others(61): Show c.382+16963_382+16964insAAGGAGAGAAGAGAGGGAGAGAAGGA GAGGAGAGAGGGAGAG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
KANK4_chr1_62231165_62324434	62278400	T T	TCTTTCTT others(35): Show TCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTATTTCTTTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01952.hp2 HG02056.hp2 others(20): Show HG00639.hp1 HG01952.hp2 HG02056.hp2 HG02129.hp1 HG02165.hp1 HG02622.hp1 HG02647.hp2 HG02976.hp1 HG03195.hp1 HG03492.hp1 NA18945.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18973.hp2 NA18979.hp2 NA18983.hp1 NA19010.hp1 NA19010.hp2 NA19057.hp1 NA19065.hp2 NA19083.hp1 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0016 a0023	a0001c0001 a0001c0009 a0002c0004 others(4): Show a0001c0001 a0001c0009 a0002c0004 a0002c0028 a0003c0030 a0016c0032 a0023c0053	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0009t0002 a0002c0004t0006 a0002c0028t0003 a0003c0030t0001 a0016c0032t0003 a0023c0053t0001	a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0125 others(19): Show a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0125 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0003g0031 a0001c0001t0003g0083 a0001c0001t0003g0311 a0001c0001t0004g0004 a0001c0001t0004g0268 a0001c0001t0007g0258 a0001c0001t0008g0146 a0001c0001t0008g0245 a0001c0009t0002g0054 a0001c0009t0002g0089 a0001c0009t0002g0235 a0002c0004t0006g0151 a0002c0004t0006g0152 a0002c0028t0003g0157 a0003c0030t0001g0078 a0016c0032t0003g0251 a0023c0053t0001g0236	23	236	0.0975	42	c.16+ others(57): Show c.16+3148_16+3149insGAAAGAAATAAAGAAAGAAAAGAAAGAAAG AAAGAAAGAAAG	KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding	2/9			chr1	TogoVar
KANSL1L_chr2_210016421_210176409	210079648	A A	ATATATGT others(35): Show ATATATGTATGTGTATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	222	0.0045	42	c.155 others(61): Show c.1551-3893_1551-3892insCACACACATATATATATATATATATA TATACACATACATATA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	5/14			chr2	TogoVar
KANSL2_chr12_48648211_48687238	48672393	G G	GTATATAT others(35): Show GTATATATATATATACGTGCATATATATATATACGTATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0046 a0002c0004t0001g0046	1	309	0.0032	42	c.546 others(57): Show c.546-432_546-431insTATATATACGTATATATATATATGCACGTA TATATATATATA	KANSL2	ENSG00000139620.13	transcript	ENST00000420613.7	protein_coding	4/9			chr12	TogoVar
KANSL2_chr12_48648211_48687238	48672433	A A	ATATATAT others(35): Show ATATATATATATATACGTGTATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0060 a0001c0003t0001g0060	1	140	0.0071	42	c.546 others(57): Show c.546-472_546-471insAAAATATATATATATATATATATACACGTA TATATATATATA	KANSL2	ENSG00000139620.13	transcript	ENST00000420613.7	protein_coding	4/9			chr12	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	71	0.0141	42	c.37 others(53): Show c.3761_*3762insAATATATATATATATATATATATATATATATATA TATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0054 a0002c0002t0003g0260 a0002c0002t0003g0261 a0001c0001t0001g0054 a0002c0002t0003g0260 a0002c0002t0003g0261	3	73	0.0411	42	c.37 others(53): Show c.3761_*3762insAAAATATATATATATATATATATATATATATATA TATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(35): Show ATATATATATATATATATGTATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00544.hp1 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0231 a0001c0001t0001g0002 a0001c0001t0001g0231	2	72	0.0278	42	c.37 others(53): Show c.3761_*3762insAAAATATATATATATATATATATACATATATATA TATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KAT2B_chr3_20035446_20159404	20061921	A A	ATATATTA others(35): Show ATATATTATATATAAAACATAATATATATTATATATAAAACAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01346.hp1 HG01257.hp2 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0146 a0001c0002t0001g0147	2	370	0.0054	42	c.304 others(61): Show c.304-10407_304-10406insTATATATAAAACATAATATATATTAT ATATAAAACATTATAT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KATNBL1_chr15_34135674_34215096	34181856	C C	CATATATA others(35): Show CATATATATATCCATATATATATATCCATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	325	0.0031	42	c.-14 others(61): Show c.-14-18167_-14-18166insATATATATATATATATGGATATATAT ATATGGATATATATAT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KAZN_chr1_14593685_15123043	14883345	A A	AGAGAGGG others(35): Show AGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0117 a0002c0002t0001g0117	1	130	0.0077	42	c.227 others(61): Show c.227-77337_227-77336insGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15048725	T T	TGATCCTT others(35): Show TGATCCTTGGTCATCGGTCCTGGGTCGTCGGTCCTGGGTCGTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0123 a0001c0003t0018g0123	1	85	0.0118	42	c.726 others(59): Show c.726+4567_726+4568insATCCTTGGTCATCGGTCCTGGGTCGTCG GTCCTGGGTCGTCG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15048725	T T	TGATCCTT others(35): Show TGATCCTTGGTCGTCGGTCCTGGGTCGTCGGTCCTGGGTCGTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01192.hp2 HG02738.hp2 others(3): Show HG00099.hp2 HG01192.hp2 HG02738.hp2 HG03471.hp2 HG03492.hp1 HG03654.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0007 a0003c0010 a0001c0003 a0002c0007 a0003c0010	a0001c0003t0002 a0001c0003t0004 a0002c0007t0001 others(1): Show a0001c0003t0002 a0001c0003t0004 a0002c0007t0001 a0003c0010t0002	a0001c0003t0002g0002 a0001c0003t0002g0082 a0001c0003t0004g0125 others(3): Show a0001c0003t0002g0002 a0001c0003t0002g0082 a0001c0003t0004g0125 a0002c0007t0001g0001 a0002c0007t0001g0008 a0003c0010t0002g0066	6	90	0.0667	42	c.726 others(59): Show c.726+4567_726+4568insATCCTTGGTCGTCGGTCCTGGGTCGTCG GTCCTGGGTCGTCG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15101164	T T	TTCTCTCT others(35): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18986.hp2 NA19079.hp1 HG03017.hp1 NA18986.hp2 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0006t0006 a0002c0002t0001 a0002c0006t0006	a0002c0002t0001g0107 a0002c0002t0001g0116 a0002c0006t0006g0012 a0002c0002t0001g0107 a0002c0002t0001g0116 a0002c0006t0006g0012	3	38	0.0789	42	c.154 others(59): Show c.1548-356_1548-355insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1969564	A A	ATATATAT others(35): Show ATATATATTTATATATTTATATATTTATATATTTATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0332 a0001c0001t0035g0332	1	314	0.0032	42	c.-52 others(53): Show c.-5280_-5279insTATATATTTATATATTTATATATTTATATATTTA TATATATT	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		4112		chr8	TogoVar
KCNC1_chr11_17729781_17788057	17734263	G G	GGTGTGTG others(35): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0105 a0001c0002t0003g0105	1	13	0.0769	42	c.-17 others(53): Show c.-1740_-1739insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	KCNC1	ENSG00000129159.9	transcript	ENST00000265969.8	protein_coding		517		chr11	TogoVar
KCNC3_chr19_50306937_50334377	50333469	C C	CCCAACCA others(35): Show CCCAACCAACCCTCCCAAACAAAAATCAAACGTAAAACAAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	378	0.0026	42	c.-43 others(53): Show c.-4388_-4387insTGCTTGTTTTACGTTTGATTTTTGTTTGGGAGGG TTGGTTGG	KCNC3	ENSG00000131398.15	transcript	ENST00000477616.2	protein_coding		4093		chr19	TogoVar
KCNG2_chr18_79792938_79905100	79865433	A A	AGAGGTCT others(35): Show AGAGGTCTGGGTATGAGGTCTGGGTGCTGAGAGGTCTGGGTAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	310	0.0032	42	c.624 others(59): Show c.624+1154_624+1195dupATGAGGTCTGGGTGCTGAGAGGTCTGGG TATGAGGTCTGGGT	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNH1_chr1_210673314_211139148	210806834	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0137 a0001c0001t0016g0137	1	77	0.0130	42	c.146 others(61): Show c.1463-2669_1463-2668insATATATATATATATATATATATATAT ATATATATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210806836	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	25	0.0400	42	c.146 others(61): Show c.1463-2671_1463-2670insATATATATATATATATATATATATAT ATATATATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	211045041	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02809.hp1 HG03041.hp1 HG00140.hp2 HG02809.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0005 a0001c0002t0015 a0001c0009t0001 a0001c0001t0005 a0001c0002t0015 a0001c0009t0001	a0001c0001t0005g0021 a0001c0002t0015g0135 a0001c0009t0001g0125 a0001c0001t0005g0021 a0001c0002t0015g0135 a0001c0009t0001g0125	3	66	0.0455	42	c.559 others(61): Show c.559-25786_559-25785insATATATATATATATATATATATATAT ATATATATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	5/10			chr1	TogoVar
KCNH5_chr14_62694464_63050458	62853458	T T	TATATATA others(35): Show TATATATATATATATATATATCATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	154	0.0065	42	c.137 others(61): Show c.1370-3607_1370-3606insGATATATATATATATATATATGATAT ATATATATATATATAT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar
KCNH5_chr14_62694464_63050458	63003441	A A	ATATATAT others(35): Show ATATATATATTATATATATATTTTATATATATTATATATATTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01081.hp2 others(5): Show HG00735.hp2 HG00738.hp1 HG01081.hp2 HG01106.hp1 HG01515.hp1 HG01934.hp1 HG01934.hp2 HG02735.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0004t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0012 a0002c0002t0008	a0001c0001t0001g0030 a0001c0001t0001g0175 a0001c0001t0002g0020 others(5): Show a0001c0001t0001g0030 a0001c0001t0001g0175 a0001c0001t0002g0020 a0001c0001t0002g0170 a0001c0004t0012g0120 a0001c0004t0012g0121 a0001c0004t0012g0122 a0002c0002t0008g0119	8	221	0.0362	42	c.305 others(59): Show c.305-2024_305-1983dupAAATATATATAATATATATAAAATATAT ATATAATATATATA	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	3/10			chr14	TogoVar
KCNH5_chr14_62694464_63050458	63003474	A A	ATATATAT others(35): Show ATATATATTTTATATATATTATATATATATTTTATATATATTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	221	0.0045	42	c.305 others(59): Show c.305-2057_305-2016dupAAATATATATAAAATATATATATAATAT ATATAAAATATATA	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	3/10			chr14	TogoVar
KCNH5_chr14_62694464_63050458	63003536	A A	ATATATAT others(35): Show ATATATATATTTTATATATATTTTATATATTTTATATATATAC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0118 a0002c0002t0008g0118	1	222	0.0045	42	c.305 others(59): Show c.305-2078_305-2077insGTATATATATAAAATATATAAAATATAT ATAAAATATATATA	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	3/10			chr14	TogoVar
KCNH8_chr3_19143510_19540642	19308705	T T	TCTCTCTC others(35): Show TCTCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCTCC	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	118	0.0085	42	c.442 others(61): Show c.442+27383_442+27384insCCCCTCTCCCCCTCTCCCCCTCTCCC CCTCTCTCCCTCTCTC	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP4_chr4_20723606_21953772	20743010	A A	ATGTGAAG others(35): Show ATGTGAAGGACCCTTATAAGGGTGTGAAGGACCCTTATAAGGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	1	53	0.0189	42	c.429 others(59): Show c.429+6610_429+6651dupCCCTTATAAGGGTCCTTCACACCCTTAT AAGGGTCCTTCACA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	5/8			chr4	TogoVar
KCNJ10_chr1_160032467_160075160	160049671	T T	TTATTTAT others(35): Show TTATTTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19084.hp1 NA19010.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0190 a0002c0002t0004g0211 a0002c0002t0004g0190 a0002c0002t0004g0211	2	399	0.0050	42	c.1-7 others(55): Show c.1-7181_1-7140dupTATATATATATATATATATATATATATATATA TATATAAATA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049675	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATTTA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0034 a0001c0001t0018g0034	1	132	0.0076	42	c.1-7 others(55): Show c.1-7144_1-7143insTAAATATATATATATATATATATATATATATA TATATATATA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049675	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATTTATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	132	0.0076	42	c.1-7 others(55): Show c.1-7144_1-7143insTATAAATATATATATATATATATATATATATA TATATATATA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049677	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	1	382	0.0026	42	c.1-7 others(55): Show c.1-7146_1-7145insAAAATATATATATATATATATATATATATATA TATATATATA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049679	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	390	0.0026	42	c.1-7 others(55): Show c.1-7148_1-7147insAATATATATATATATATATATATATATATATA TATATATATA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ6_chr21_37602373_37921457	37616590	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01258.hp2 NA18957.hp2 HG01258.hp2 NA18957.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0095 a0002c0005t0168 a0001c0001t0095 a0002c0005t0168	a0001c0001t0095g0039 a0002c0005t0168g0135 a0001c0001t0095g0039 a0002c0005t0168g0135	2	22	0.0909	42	c.85 others(53): Show c.8568_*8569insATATATATATATATATATATATATATATATATAT ATATATAT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	8568		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37630134	C C	CTGTGTGT others(35): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0124 a0001c0001t0027g0124	1	49	0.0204	42	c.947 others(59): Show c.947-4651_947-4650insCACACACACACACACACACACACACACA CACACACACACACA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNK10_chr14_88175108_88328269	88212109	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0314 a0001c0003t0016g0314	1	235	0.0043	42	c.681 others(61): Show c.681+15265_681+15266insATATATATATATATATATATATATAT ATATATATATATATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	4/6			chr14	TogoVar
KCNK9_chr8_139612121_139708123	139687539	C C	CACATATA others(35): Show CACATATATATTCATATATTCATATATATGTATACATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03139.hp1 HG02723.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0001g0309 a0001c0001t0001g0313	2	313	0.0064	42	c.283 others(61): Show c.283+15170_283+15171insATATATATGTATACATATATATGAAT ATATGAATATATATGT	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0013 a0001c0001t0015g0013	1	222	0.0045	42	c.-12 others(53): Show c.-1284_-1283insATATATATATATATATATATTTTTTTTTTTTTTT TTTTTTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178759698	A A	ATCTCTCC others(35): Show ATCTCTCCAAGAGGATATATATACATATATCTCTCTCCAAGAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01192.hp1 HG01358.hp2 others(1): Show HG00280.hp2 HG01192.hp1 HG01358.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0003g0213 others(1): Show a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0003g0213 a0001c0002t0001g0149	4	230	0.0174	42	c.-67 others(61): Show c.-67-47645_-67-47644insTCTCTCCAAGAGGATATATATACATA TATCTCTCTCCAAGAG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178817218	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0199 a0001c0002t0006g0199	1	152	0.0066	42	c.57- others(57): Show c.57-8361_57-8360insTATATATATATATATATATATATATATACA TACATATATATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178817218	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	152	0.0066	42	c.57- others(57): Show c.57-8361_57-8360insTATATATATATATATATATATATATATATA TACATATATATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN2_chr5_114357070_114501496	114373640	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01257.hp1 HG01993.hp1 others(6): Show HG01081.hp2 HG01257.hp1 HG01993.hp1 HG02132.hp2 HG04115.hp1 NA19004.hp1 NA19004.hp2 NA19065.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(6): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0056 a0002c0002t0001g0119 a0002c0002t0001g0126 a0002c0002t0001g0150 a0002c0002t0001g0163 a0002c0002t0001g0164	9	85	0.1059	42	c.121 others(61): Show c.1218+9657_1218+9658insTATATATATATATATATATATATATA TATATATATATATATA	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN2_chr5_114357070_114501496	114373640	T T	TTTTATAT others(35): Show TTTTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0198 a0003c0003t0001g0198	1	77	0.0130	42	c.121 others(61): Show c.1218+9640_1218+9641insTTATATATATATATATATATATATAT ATATATATATATATAT	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN2_chr5_114357070_114501496	114373657	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03710.hp2 HG01346.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0227 a0001c0001t0001g0030 a0001c0001t0001g0227	2	234	0.0085	42	c.121 others(61): Show c.1218+9657_1218+9658insTATATATATATATATATATATATATA TATATATATATATAAA	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN2_chr5_114357070_114501496	114477002	T T	TAATTCTA others(35): Show TAATTCTAAAATGCTGAATGATTTGTGAATAATTAAAAGTAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00438.hp2 others(58): Show HG00099.hp2 HG00280.hp2 HG00438.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02523.hp1 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG02896.hp2 HG03041.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04199.hp1 HG06807.hp2 NA18942.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18973.hp1 NA18997.hp2 NA19000.hp1 NA19004.hp2 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19077.hp2 NA19081.hp2 NA19084.hp1 NA19088.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0020 a0002c0002 others(2): Show a0001c0001 a0001c0020 a0002c0002 a0002c0016 a0004c0012	a0001c0001t0001 a0001c0020t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0020t0001 a0002c0002t0001 a0002c0016t0003 a0004c0012t0001	a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0032 others(58): Show a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0090 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0229 a0001c0020t0001g0232 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0009 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0120 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0141 a0002c0002t0001g0144 a0002c0002t0001g0150 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0164 a0002c0002t0001g0170 a0002c0002t0001g0175 a0002c0002t0001g0184 a0002c0002t0001g0201 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0206 a0002c0002t0001g0249 a0002c0016t0003g0177 a0004c0012t0001g0142	61	248	0.2460	42	c.189 others(61): Show c.1890+3839_1890+3880dupAATTCTAAAATGCTGAATGATTTGTG AATAATTAAAAGTAAA	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNQ1_chr11_2440008_2854105	2733814	A A	ACACACAC others(35): Show ACACACACACACACACACACTCTCTCTCTCACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	58	0.0172	42	c.151 others(63): Show c.1515-35029_1515-35028insACACACACACACACACACTCTCTC TCTCACTCTCTCTCTCTC	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2733814	A A	ACACACAC others(35): Show ACACACACACACACACTCTCTCTCTCACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0010 a0003c0006t0010	a0003c0006t0010g0012 a0003c0006t0010g0012	1	58	0.0172	42	c.151 others(63): Show c.1515-35029_1515-35028insACACACACACACACTCTCTCTCTC ACTCTCTCTCTCTCTCTC	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr11	TogoVar

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