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
KAZN_chr1_14593685_15123043	14695510	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02886.hp1 HG03225.hp2 others(2): Show HG00621.hp2 HG02886.hp1 HG03225.hp2 NA18612.hp2 NA20300.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0014 a0001c0001 a0002c0002 a0008c0014	a0001c0001t0009 a0001c0001t0010 a0002c0002t0001 others(1): Show a0001c0001t0009 a0001c0001t0010 a0002c0002t0001 a0008c0014t0005	a0001c0001t0009g0033 a0001c0001t0010g0040 a0002c0002t0001g0073 others(2): Show a0001c0001t0009g0033 a0001c0001t0010g0040 a0002c0002t0001g0073 a0002c0002t0001g0081 a0008c0014t0005g0097	5	68	0.0735	29	c.226 others(48): Show c.226+96302_226+96303insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883340	G G	GAGAGAGA others(22): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	131	0.0076	29	c.227 others(48): Show c.227-77341_227-77340insGAGAGAGAGAGAGAGAGAGAGAGAGA AGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883341	A A	AGAGAGAG others(22): Show AGAGAGAGAGAGAGAGAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0131 a0001c0001t0010g0131	1	132	0.0076	29	c.227 others(48): Show c.227-77341_227-77340insGAGAGAGAGAGAGAGAAAGAAAGAAA GGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883342	G G	GAGAGAGA others(22): Show GAGAGAGAGAGAGAGAGAGAGAGAGAAAGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	134	0.0075	29	c.227 others(48): Show c.227-77341_227-77340insGAGAGAGAGAGAGAGAGAGAGAGAAA GAA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883347	A A	AGAGGGAG others(22): Show AGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0002 a0004c0016t0002	a0004c0016t0002g0022 a0004c0016t0002g0022	1	141	0.0071	29	c.227 others(48): Show c.227-77337_227-77336insGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14			chr1	TogoVar
KAZN_chr1_14593685_15123043	14883355	A A	AGAGGGAG others(22): Show AGAGGGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	40	0.0250	29	c.227 others(48): Show c.227-77329_227-77328insGAGGGAGAGAGAGAGAGAGAGAGAGA GAG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14			chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1969112	C C	CAGATTTA others(22): Show CAGATTTAAAACATATATTTTACATGTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0270 a0001c0001t0006g0270	1	247	0.0040	29	c.-57 others(40): Show c.-5732_-5731insAGATTTAAAACATATATTTTACATGTTTT	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		4564		chr8	TogoVar
KBTBD2_chr7_32863172_32896760	32896707	T T	TTAACACA others(22): Show TTAACACAGAAAAAAAAAATTAAAACACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	432	0.0023	29	c.-55 others(40): Show c.-5511_-5510insTAGTGTTTTAATTTTTTTTTTCTGTGTTA	KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding		4948		chr7	TogoVar
KCMF1_chr2_84966161_85064472	84974692	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0210 a0001c0001t0004g0210	1	237	0.0042	29	c.16+ others(44): Show c.16+3225_16+3226insATATATATATATATATATATATATATATA	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6			chr2	TogoVar
KCNB1_chr20_49358877_49487668	49425670	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp2 HG02647.hp1 others(8): Show HG02055.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02922.hp1 HG02922.hp2 HG03209.hp1 HG03453.hp1 HG03669.hp2 NA19043.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 a0001c0001t0055 a0001c0001t0091 a0001c0001t0094 a0001c0001t0098 a0001c0001t0099 a0001c0001t0101 a0001c0002t0013 a0001c0002t0033	a0001c0001t0001g0030 a0001c0001t0006g0063 a0001c0001t0016g0014 others(8): Show a0001c0001t0001g0030 a0001c0001t0006g0063 a0001c0001t0016g0014 a0001c0001t0055g0174 a0001c0001t0091g0112 a0001c0001t0094g0062 a0001c0001t0098g0169 a0001c0001t0099g0234 a0001c0001t0101g0156 a0001c0002t0013g0272 a0001c0002t0033g0271	11	135	0.0815	29	c.568 others(48): Show c.568-50679_568-50678insTATATATATATATATATATATATATA TAT	KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1			chr20	TogoVar
KCNC2_chr12_75035078_75214839	75138979	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	59	0.0169	29	c.687 others(48): Show c.687+68317_687+68318insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75151915	A A	ATATATAT others(22): Show ATATATATAATATATTATATATTATACATT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01243.hp2 HG02071.hp1 others(46): Show HG00673.hp1 HG01243.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02523.hp1 HG02615.hp1 HG02630.hp1 HG03017.hp1 HG03490.hp2 HG03491.hp1 HG03654.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18948.hp1 NA18951.hp1 NA18957.hp1 NA18962.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA18998.hp2 NA18999.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp1 NA19058.hp2 NA19063.hp2 NA19066.hp1 NA19075.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0005 a0001c0001 a0001c0007 a0002c0005	a0001c0001t0001 a0001c0001t0012 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0007t0001 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0045 a0001c0001t0001g0056 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0260 a0001c0001t0001g0267 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0012g0090 a0001c0007t0001g0118 a0002c0005t0001g0135	49	306	0.1601	29	c.687 others(48): Show c.687+55353_687+55381dupAATGTATAATATATAATATATTATAT ATA	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNE1_chr21_34441690_34517210	34445946	T T	TGGTGCCC others(22): Show TGGTGCCCACATTCCCTGCTCCGTCCGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0018 a0001c0001t0007g0018	1	16	0.0625	29	c.32 others(40): Show c.3298_*3299insGTCCGGACGGAGCAGGGAATGTGGGCACC	KCNE1	ENSG00000180509.13	transcript	ENST00000399286.3	protein_coding		743		chr21	TogoVar
KCNE1_chr21_34441690_34517210	34446121	G G	GGTGCCCA others(22): Show GGTGCCCACATTCCCTGCTCCGTCCGGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01106.hp1 HG01106.hp2 others(8): Show HG00140.hp1 HG01106.hp1 HG01106.hp2 HG01433.hp1 HG02300.hp1 HG02300.hp2 HG03704.hp1 HG03704.hp2 HG04228.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(8): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0002g0003 a0001c0001t0002g0004	11	15	0.7333	29	c.31 others(40): Show c.3123_*3124insTGTCCGGACGGAGCAGGGAATGTGGGCAC	KCNE1	ENSG00000180509.13	transcript	ENST00000399286.3	protein_coding		568		chr21	TogoVar
KCNG1_chr20_50998656_51028107	51002034	A A	AGAGAAGA others(22): Show AGAGAAGAGAAAGAGAGGGAGAGAGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA20752.hp1 HG02257.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	2	422	0.0047	29	c.20 others(40): Show c.2004_*2005insCTCCTCTCTCTCCCTCTCTTTCTCTTCTC	KCNG1	ENSG00000026559.14	transcript	ENST00000371571.5	protein_coding		1621		chr20	TogoVar
KCNG2_chr18_79792938_79905100	79865487	G G	GCTGAGAG others(22): Show GCTGAGAGGTCTGGGTATGAGGTCTGGGTA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0055 a0002c0004t0001g0056 a0002c0004t0001g0055 a0002c0004t0001g0056	2	221	0.0090	29	c.624 others(46): Show c.624+1208_624+1209insGGTATGAGGTCTGGGTACTGAGAGGTCT G	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79882749	G G	GCTGCCGT others(22): Show GCTGCCGTGGAGCGCGGAGGCCGGGTACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	310	0.0032	29	c.625 others(48): Show c.625-16286_625-16258dupCGTGGAGCGCGGAGGCCGGGTACACC TGC	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(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	144	0.0069	29	c.666 others(46): Show c.666-7665_666-7664insATATATATATATATATATATATATATAT A	KCNG3	ENSG00000171126.8	transcript	ENST00000306078.2	protein_coding	1/1			chr2	TogoVar
KCNH1_chr1_210673314_211139148	210806824	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0125 a0001c0009t0001g0125	1	127	0.0079	29	c.146 others(48): Show c.1463-2659_1463-2658insATATATATATATATATATATATATAT ATA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH5_chr14_62694464_63050458	62853458	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp1 HG02683.hp2 others(2): Show HG00733.hp1 HG01074.hp1 HG02683.hp2 NA18957.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0022 a0001c0001t0034 others(2): Show a0001c0001t0002 a0001c0001t0022 a0001c0001t0034 a0002c0002t0004 a0002c0002t0043	a0001c0001t0002g0058 a0001c0001t0022g0024 a0001c0001t0034g0204 others(2): Show a0001c0001t0002g0058 a0001c0001t0022g0024 a0001c0001t0034g0204 a0002c0002t0004g0100 a0002c0002t0043g0092	5	158	0.0316	29	c.137 others(48): Show c.1370-3607_1370-3606insGATATATATATATATATATATATATA TAT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar
KCNH5_chr14_62694464_63050458	62853460	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02723.hp1 HG03139.hp1 others(2): Show HG02280.hp1 HG02723.hp1 HG03139.hp1 HG03486.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0002c0002t0011 a0001c0001t0001 a0002c0002t0003 a0002c0002t0011	a0001c0001t0001g0038 a0002c0002t0003g0003 a0002c0002t0011g0002 others(2): Show a0001c0001t0001g0038 a0002c0002t0003g0003 a0002c0002t0011g0002 a0002c0002t0011g0005 a0002c0002t0011g0007	5	216	0.0231	29	c.137 others(48): Show c.1370-3609_1370-3608insGATATATATATATATATATATATATA TAT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar
KCNH7_chr2_162366407_162843767	162429383	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19084.hp2 NA19074.hp2 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0093 a0001c0003t0001g0028 a0001c0003t0001g0093	2	5	0.4000	29	c.195 others(48): Show c.1954+5814_1954+5815insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	8/15			chr2	TogoVar
KCNH7_chr2_162366407_162843767	162741286	T T	TACATATT others(22): Show TACATATTAATAACATATGTTATTAATTAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	79	0.0127	29	c.307 others(48): Show c.307+95222_307+95250dupGTAATTAATAACATATGTTATTAATA TGT	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KCNIP4_chr4_20723606_21953772	20988000	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0004 a0001c0001t0009g0004	1	29	0.0345	29	c.62- others(48): Show c.62-105292_62-105291insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21125188	C C	CTATTTTA others(22): Show CTATTTTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	13	0.0769	29	c.62- others(48): Show c.62-242480_62-242479insAATAAAATAAAATAAAATAAAATAAA ATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21320964	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0062 a0001c0002t0005g0062	1	29	0.0345	29	c.62- others(48): Show c.62-438256_62-438255insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21785610	T T	TAAATAAA others(22): Show TAAATAAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	59	0.0169	29	c.61+ others(48): Show c.61+162960_61+162961insTATTTATTTATTTATTTATTTATTTA TTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ10_chr1_160032467_160075160	160049683	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0184 a0001c0001t0030g0184	1	396	0.0025	29	c.1-7 others(42): Show c.1-7180_1-7152dupATATATATATATATATATATATATATATA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ14_chr19_48450574_48471980	48461550	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	331	0.0030	29	c.-55 others(44): Show c.-55-120_-55-119insAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	KCNJ14	ENSG00000182324.7	transcript	ENST00000342291.3	protein_coding	1/2			chr19	TogoVar
KCNJ4_chr22_38421327_38460199	38455503	T T	TCCCGCCC others(22): Show TCCCGCCCCGCCGCCGGCCTGTCGCCTACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	378	0.0026	29	c.-56 others(38): Show c.-564_-563insGGTAGGCGACAGGCCGGCGGCGGGGCGGG	KCNJ4	ENSG00000168135.4	transcript	ENST00000303592.3	protein_coding		305		chr22	TogoVar
KCNJ5_chr11_128886356_128926163	128898817	C C	CGTCCCCA others(22): Show CGTCCCCAGCTATTCGGGAGGCTAAGGTAT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0206 a0001c0001t0070g0206	1	458	0.0022	29	c.-11 others(46): Show c.-11+7096_-11+7097insGTCCCCAGCTATTCGGGAGGCTAAGGTA T	KCNJ5	ENSG00000120457.12	transcript	ENST00000529694.6	protein_coding	1/2			chr11	TogoVar
KCNK13_chr14_90056994_90190853	90143171	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG01069.hp2 others(29): Show HG00544.hp1 HG00597.hp1 HG01069.hp2 HG01256.hp1 HG01361.hp2 HG01884.hp2 HG01943.hp2 HG02027.hp1 HG02027.hp2 HG02559.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG03225.hp1 HG03491.hp1 HG03704.hp1 HG04228.hp1 NA18747.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19070.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0003 a0001c0006t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0092 others(29): Show a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0290 a0001c0001t0002g0004 a0001c0001t0002g0048 a0001c0001t0002g0056 a0001c0001t0002g0131 a0001c0001t0002g0272 a0001c0001t0002g0288 a0001c0001t0002g0305 a0001c0001t0002g0309 a0001c0001t0003g0022 a0001c0001t0003g0217 a0001c0001t0003g0231 a0001c0001t0003g0241 a0001c0004t0003g0261 a0001c0006t0002g0069 a0001c0006t0002g0097 a0002c0002t0001g0055 a0002c0002t0001g0090 a0002c0002t0001g0220 a0003c0003t0001g0176	32	187	0.1711	29	c.335 others(48): Show c.335-40933_335-40932insCTTTCTTTCTTTCTTTCTTTCTTTTC TTT	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(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	238	0.0042	29	c.-47 others(40): Show c.-4755_-4754insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	KCNK18	ENSG00000186795.1	transcript	ENST00000334549.1	protein_coding		4754		chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77572604	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	105	0.0095	29	c.378 others(48): Show c.378+64660_378+64661insATATATATATATATATATATATATAT ATA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG02071.hp1 HG02129.hp2 others(2): Show HG00621.hp2 HG02071.hp1 HG02129.hp2 NA18953.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0087 a0002c0002t0009 a0003c0003t0003 others(1): Show a0001c0001t0087 a0002c0002t0009 a0003c0003t0003 a0003c0003t0038	a0001c0001t0087g0200 a0002c0002t0009g0189 a0003c0003t0003g0007 others(2): Show a0001c0001t0087g0200 a0002c0002t0009g0189 a0003c0003t0003g0007 a0003c0003t0003g0009 a0003c0003t0038g0043	5	226	0.0221	29	c.-12 others(40): Show c.-1284_-1283insATATATATATATTTTTTTTTTTTTTTTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02273.hp2 NA18960.hp2 others(1): Show HG00735.hp2 HG02273.hp2 NA18960.hp2 NA18977.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0003 a0003c0003t0023 a0001c0001t0002 a0003c0003t0003 a0003c0003t0023	a0001c0001t0002g0047 a0003c0003t0003g0009 a0003c0003t0023g0029 a0001c0001t0002g0047 a0003c0003t0003g0009 a0003c0003t0023g0029	4	225	0.0178	29	c.-12 others(40): Show c.-1284_-1283insATATATATATATATTTTTTTTTTTTTTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA19066.hp2 NA18981.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0013g0017 a0001c0001t0001g0001 a0001c0001t0013g0017	2	223	0.0090	29	c.-12 others(40): Show c.-1284_-1283insATATATATATATATATATATATATATATT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178758045	G G	GAGGATAT others(22): Show GAGGATATATATATGTACACACAAGAGGAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	129	0.0078	29	c.-67 others(48): Show c.-67-49297_-67-49296insGGATATATATATGTACACACAAGAGG ATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759046	T T	TATATATA others(22): Show TATATATATATATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0103 a0001c0001t0004g0104	2	231	0.0087	29	c.-67 others(48): Show c.-67-48279_-67-48278insCTCCAAGAGGGATATATATATATATA TAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNQ3_chr8_132115861_132486095	132403016	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01975.hp1 HG02015.hp2 others(5): Show HG00323.hp1 HG01975.hp1 HG02015.hp2 HG02056.hp2 HG02523.hp1 NA18906.hp2 NA18957.hp2 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 others(5): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0039 a0001c0001t0048 a0002c0002t0003 a0002c0002t0009	a0001c0001t0003g0155 a0001c0001t0006g0121 a0001c0001t0011g0002 others(5): Show a0001c0001t0003g0155 a0001c0001t0006g0121 a0001c0001t0011g0002 a0001c0001t0014g0108 a0001c0001t0039g0030 a0001c0001t0048g0045 a0002c0002t0003g0158 a0002c0002t0009g0005	8	9	0.8889	29	c.386 others(48): Show c.386+77130_386+77131insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ5_chr6_72617064_73203853	73024381	T T	TGATAGAT others(22): Show TGATAGATAGATAGATTAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01099.hp2 HG02015.hp2 others(8): Show HG00597.hp2 HG01099.hp2 HG02015.hp2 HG02109.hp2 HG02257.hp1 HG02293.hp2 HG02895.hp1 HG02965.hp2 HG06807.hp1 NA18944.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0032 a0001c0001t0036 a0001c0001t0038 a0001c0002t0001 a0001c0002t0010 a0001c0007t0019	a0001c0001t0002g0006 a0001c0001t0003g0015 a0001c0001t0003g0069 others(8): Show a0001c0001t0002g0006 a0001c0001t0003g0015 a0001c0001t0003g0069 a0001c0001t0004g0048 a0001c0001t0032g0035 a0001c0001t0036g0070 a0001c0001t0038g0022 a0001c0002t0001g0039 a0001c0002t0010g0028 a0001c0002t0010g0051 a0001c0007t0019g0001	11	34	0.3235	29	c.490 others(48): Show c.490-17540_490-17539insTAGATAGATAGATAGATAGATAGATA GAT	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATATAGA others(22): Show TATATAGAGAGAGAGGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0149 a0001c0002t0025g0149	1	50	0.0200	29	c.254 others(48): Show c.254+17272_254+17273insTATAGAGAGAGAGGAGAGAGAGAGAG AGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135777685	C C	CCTCCTGC others(22): Show CCTCCTGCTCCCAGCTCCTCCCCACACCCA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0147 a0001c0004t0002g0147	1	268	0.0037	29	c.252 others(46): Show c.2522+200_2522+228dupACCCACTCCTGCTCCCAGCTCCTCCCCA C	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	29	0.0345	29	c.269 others(48): Show c.2697+1408_2697+1409insATATATATATATATATTTTTTTTTTT TTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG06807.hp1 HG03041.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0084 a0001c0001t0001g0062 a0001c0001t0001g0084	2	30	0.0667	29	c.269 others(48): Show c.2697+1408_2697+1409insATATATATATATATATATTTTTTTTT TTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	29	0.0345	29	c.269 others(48): Show c.2697+1408_2697+1409insATATATATATATATATATATTTTTTT TTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18984.hp1 NA19009.hp1 HG02965.hp2 NA18984.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0028 a0001c0001t0001g0059 a0001c0005t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0059 a0001c0005t0001g0025	3	31	0.0968	29	c.269 others(48): Show c.2697+1408_2697+1409insATATATATATATATATATATATTTTT TTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCTD4_chr13_45187853_45206045	45191224	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	114	0.0088	29	c.25 others(40): Show c.2563_*2564insATATATATATATATATATATATATATATT	KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding		1628		chr13	TogoVar
KCTD8_chr4_44168903_44453809	44317228	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA19009.hp2 HG02135.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0114 a0001c0001t0001g0072 a0001c0001t0001g0114	2	35	0.0571	29	c.961 others(50): Show c.961+130334_961+130335insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KDM1B_chr6_18150422_18228854	18208627	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18939.hp1 HG03017.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0277 a0001c0001t0002g0296 a0001c0001t0001g0277 a0001c0001t0002g0296	2	275	0.0073	29	c.186 others(46): Show c.1866+422_1866+423insATATATATATATATATATATATATATAT T	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr6	TogoVar

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