Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
KCNK2_chr1_215077737_215242090	215159884	CTGAGCAG others(2): Show CTGAGCAGGA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03688.hp2 HG04228.hp1 others(11): Show HG00544.hp1 HG03688.hp2 HG04228.hp1 NA18941.hp2 NA18948.hp2 NA18983.hp1 NA18986.hp1 NA18997.hp1 NA19002.hp2 NA19003.hp2 NA19011.hp1 NA19012.hp1 NA19060.hp2 NA19086.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0008 a0001c0003t0010 others(2): Show a0001c0003t0002 a0001c0003t0008 a0001c0003t0010 a0001c0003t0019 a0001c0003t0023	a0001c0003t0002g0009 a0001c0003t0008g0003 a0001c0003t0008g0004 others(11): Show a0001c0003t0002g0009 a0001c0003t0008g0003 a0001c0003t0008g0004 a0001c0003t0008g0007 a0001c0003t0008g0008 a0001c0003t0008g0011 a0001c0003t0008g0012 a0001c0003t0010g0010 a0001c0003t0010g0015 a0001c0003t0019g0001 a0001c0003t0019g0014 a0001c0003t0023g0002 a0001c0003t0023g0005 a0001c0003t0023g0016	14	260	0.0539	-9	c.476 others(26): Show c.476-9312_476-9304delAGCAGGATG		KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMA1_chr10_76879882_77642808	76941146	AAGGGAAG others(2): Show AAGGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18906.hp1 HG03225.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0059 a0001c0003t0003g0024 a0001c0001t0003g0059 a0001c0003t0003g0024	2	106	0.0189	-9	c.290 others(28): Show c.2902+3618_2902+3626delCCCTTCCCT		KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	23/27						chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77134997	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02080.hp2 HG02165.hp2 others(6): Show HG01071.hp1 HG02080.hp2 HG02165.hp2 HG02572.hp2 HG02897.hp1 NA18747.hp1 NA18747.hp2 NA19009.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0003t0001	a0001c0001t0001g0031 a0001c0001t0002g0078 a0001c0001t0003g0039 others(6): Show a0001c0001t0001g0031 a0001c0001t0002g0078 a0001c0001t0003g0039 a0001c0002t0002g0005 a0001c0002t0002g0056 a0001c0002t0003g0019 a0001c0002t0004g0101 a0001c0002t0013g0013 a0001c0003t0001g0010	9	106	0.0849	-9	c.809 others(28): Show c.809-13958_809-13950delTTTTTTTTT		KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	5/27						chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77146701	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp1 HG01099.hp1 others(31): Show HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01433.hp1 HG01884.hp2 HG01928.hp2 HG02056.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03704.hp1 HG04184.hp1 HG04204.hp1 NA18906.hp1 NA20129.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0010 a0001c0002t0012 a0001c0002t0018 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0005t0001 a0001c0005t0003 a0001c0007t0002 a0002c0006t0003	a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0028 others(31): Show a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0002g0069 a0001c0001t0002g0081 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0077 a0001c0001t0003g0090 a0001c0001t0004g0100 a0001c0001t0014g0037 a0001c0001t0019g0104 a0001c0002t0001g0002 a0001c0002t0001g0062 a0001c0002t0001g0070 a0001c0002t0002g0049 a0001c0002t0002g0074 a0001c0002t0006g0032 a0001c0002t0010g0086 a0001c0002t0012g0050 a0001c0002t0018g0098 a0001c0003t0001g0080 a0001c0003t0003g0024 a0001c0003t0003g0082 a0001c0004t0001g0063 a0001c0005t0001g0033 a0001c0005t0003g0015 a0001c0007t0002g0014 a0002c0006t0003g0001	34	106	0.3208	-9	c.809 others(28): Show c.809-25662_809-25654delTTTTTTTTT		KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	5/27						chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77270472	TCTTTCTT others(2): Show TCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01433.hp1 HG02486.hp1 others(15): Show HG01071.hp2 HG01433.hp1 HG02486.hp1 HG02572.hp2 HG02723.hp2 HG02738.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03130.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0012 a0001c0002t0017 a0001c0003t0001 a0001c0003t0003 a0001c0004t0003 a0001c0007t0002 a0001c0008t0001 a0003c0009t0001	a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0071 others(15): Show a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0071 a0001c0001t0002g0081 a0001c0001t0003g0034 a0001c0001t0003g0054 a0001c0001t0003g0059 a0001c0001t0003g0079 a0001c0001t0005g0075 a0001c0001t0006g0093 a0001c0002t0012g0050 a0001c0002t0017g0045 a0001c0003t0001g0010 a0001c0003t0003g0024 a0001c0004t0003g0021 a0001c0007t0002g0014 a0001c0008t0001g0004 a0003c0009t0001g0094	18	106	0.1698	-9	c.541 others(28): Show c.541-19225_541-19217delGAAAGAAAG		KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	2/27						chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77286762	TGTGCGGG others(2): Show TGTGCGGGGG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01071.hp1 HG01099.hp2 others(9): Show HG00280.hp1 HG01071.hp1 HG01099.hp2 HG01168.hp1 HG02027.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0020 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0013 a0001c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0084 a0001c0001t0002g0012 others(9): Show a0001c0001t0001g0011 a0001c0001t0001g0084 a0001c0001t0002g0012 a0001c0001t0015g0007 a0001c0001t0020g0099 a0001c0002t0002g0083 a0001c0002t0003g0018 a0001c0002t0003g0057 a0001c0002t0003g0067 a0001c0002t0006g0032 a0001c0002t0013g0013 a0001c0005t0001g0033	12	106	0.1132	-9	c.541 others(28): Show c.541-35515_541-35507delCCCCCGCAC		KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	2/27						chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77333392	GAAAGAAA others(2): Show GAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG03471.hp1 HG01884.hp2 HG02572.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0003g0030 a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0003g0030	3	106	0.0283	-9	c.540 others(28): Show c.540+70461_540+70469delTCTTTCTTT		KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	2/27						chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77427713	ATCCATTC others(2): Show ATCCATTCAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02965.hp2 HG03130.hp1 HG01081.hp2 HG02965.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0065 a0001c0002t0001g0062 a0001c0002t0003g0003 a0001c0001t0001g0065 a0001c0002t0001g0062 a0001c0002t0003g0003	3	106	0.0283	-9	c.379 others(28): Show c.379-23699_379-23691delATGAATGGA		KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27						chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77509101	TTTGTTGT others(2): Show TTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18906.hp2 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0017 a0001c0001t0009 a0001c0002t0017	a0001c0001t0009g0035 a0001c0002t0017g0045 a0001c0001t0009g0035 a0001c0002t0017g0045	2	106	0.0189	-9	c.379 others(30): Show c.379-105087_379-105079delCAACAACAA		KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27						chr10	TogoVar
KCNMB2_chr3_178531436_178849429	178685091	CTACCCAA others(2): Show CTACCCAACT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp2 HG01257.hp1 others(17): Show HG00323.hp2 HG00738.hp2 HG01257.hp1 HG01258.hp2 HG02027.hp2 HG02257.hp1 HG02698.hp2 HG02895.hp1 HG02896.hp1 HG03098.hp2 HG03942.hp2 NA18949.hp1 NA18953.hp1 NA18960.hp2 NA18979.hp2 NA18992.hp1 NA19030.hp2 NA19077.hp2 NA19081.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0022 a0001c0001t0002g0034 a0001c0001t0002g0046 others(17): Show a0001c0001t0002g0022 a0001c0001t0002g0034 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0054 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0003g0028 a0001c0001t0003g0041 a0001c0001t0003g0064 a0001c0001t0003g0069 a0001c0001t0003g0098 a0001c0001t0003g0115 a0001c0001t0003g0145 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0002t0001g0116 a0001c0002t0001g0144	20	232	0.0862	-9	c.-67 others(30): Show c.-67-122251_-67-122243delTACCCAACT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4						chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757793	TCTTATAT others(2): Show TCTTATATCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp2 HG02109.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0226 a0001c0002t0001g0217 a0001c0002t0001g0226	2	232	0.0086	-9	c.-67 others(28): Show c.-67-49549_-67-49541delCTTATATCC		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4						chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758962	GATATATA others(2): Show GATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA20300.hp2 NA18939.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0185 a0001c0002t0001g0125 a0001c0001t0004g0185 a0001c0002t0001g0125	2	232	0.0086	-9	c.-67 others(28): Show c.-67-48380_-67-48372delATATATATA		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4						chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759042	GATATATA others(2): Show GATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01515.hp1 HG03017.hp1 others(5): Show HG01069.hp2 HG01515.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 NA19003.hp1 NA19010.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0003g0122 a0001c0001t0003g0127 a0001c0001t0003g0130 others(5): Show a0001c0001t0003g0122 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0177 a0001c0001t0004g0160 a0001c0001t0004g0185 a0001c0002t0001g0072 a0001c0002t0001g0121	8	232	0.0345	-9	c.-67 others(28): Show c.-67-48300_-67-48292delATATATATA		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4						chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759130	TCCAAGAG others(2): Show TCCAAGAGGG	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01884.hp2 HG01978.hp1 HG01358.hp2 HG01884.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0147 a0001c0001t0002g0156 a0001c0001t0003g0213 a0001c0001t0002g0147 a0001c0001t0002g0156 a0001c0001t0003g0213	3	232	0.0129	-9	c.-67 others(28): Show c.-67-48212_-67-48204delCCAAGAGGG		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4						chr3	TogoVar
KCNMB4_chr12_70361290_70439292	70438527	CTGACTGG others(2): Show CTGACTGGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG02895.hp2 HG02897.hp2 others(3): Show HG01069.hp2 HG02895.hp2 HG02897.hp2 HG03098.hp2 HG03516.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0060 a0001c0001t0008g0044 a0001c0001t0008g0261 others(3): Show a0001c0001t0006g0060 a0001c0001t0008g0044 a0001c0001t0008g0261 a0001c0001t0008g0262 a0001c0001t0008g0265 a0001c0001t0008g0268	6	378	0.0159	-9	c.78 others(20): Show c.7875_*7883delTGACTGGGA		KCNMB4	ENSG00000135643.5	transcript	ENST00000258111.5	protein_coding					4236		chr12	TogoVar
KCNN3_chr1_154692455_154875281	154780194	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01168.hp2 HG01169.hp2 others(12): Show HG01081.hp1 HG01168.hp2 HG01169.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG02109.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03540.hp1 HG03831.hp2 NA18612.hp2 NA21309.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0008 a0002c0002 a0004c0014 others(5): Show a0001c0008 a0002c0002 a0004c0014 a0005c0031 a0006c0013 a0007c0017 a0008c0016 a0009c0030	a0001c0008t0005 a0001c0008t0008 a0001c0008t0014 others(9): Show a0001c0008t0005 a0001c0008t0008 a0001c0008t0014 a0002c0002t0003 a0004c0014t0006 a0005c0031t0002 a0006c0013t0001 a0006c0013t0006 a0007c0017t0022 a0007c0017t0097 a0008c0016t0007 a0009c0030t0005	a0001c0008t0005g0064 a0001c0008t0008g0061 a0001c0008t0014g0055 others(11): Show a0001c0008t0005g0064 a0001c0008t0008g0061 a0001c0008t0014g0055 a0002c0002t0003g0124 a0004c0014t0006g0039 a0005c0031t0002g0001 a0006c0013t0001g0018 a0006c0013t0006g0024 a0007c0017t0022g0218 a0007c0017t0022g0219 a0007c0017t0097g0217 a0008c0016t0007g0208 a0008c0016t0007g0209 a0009c0030t0005g0193	15	238	0.0630	-9	c.103 others(28): Show c.1030-7810_1030-7802delAAAAAAAAA		KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	2/7						chr1	TogoVar
KCNN3_chr1_154692455_154875281	154869854	TTGCTGCT others(2): Show TTGCTGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00741.hp2 HG01175.hp2 NA19007.hp1 HG00741.hp2 HG01175.hp2 NA19007.hp1	a0013 a0016 a0013 a0016	a0013c0022 a0016c0032 a0013c0022 a0016c0032	a0013c0022t0036 a0013c0022t0041 a0016c0032t0006 a0013c0022t0036 a0013c0022t0041 a0016c0032t0006	a0013c0022t0036g0004 a0013c0022t0041g0005 a0016c0032t0006g0006 a0013c0022t0036g0004 a0013c0022t0041g0005 a0016c0032t0006g0006	3	238	0.0126	-9	c.102 others(16): Show c.102_110delGCAGCAGCA	p.Gln others(11): Show p.Gln35_Gln37del	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	1/8	427/13034	102/2196	34/731			chr1	TogoVar
KCNN4_chr19_43761533_43785973	43764350	CATTATTA others(2): Show CATTATTATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(188): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0004 a0003c0002 others(2): Show a0001c0001 a0001c0004 a0003c0002 a0004c0005 a0005c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0004t0001 a0003c0002t0001 a0004c0005t0001 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(149): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0310 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0344 a0001c0001t0001g0347 a0001c0001t0004g0139 a0001c0001t0004g0213 a0001c0001t0006g0121 a0001c0001t0006g0264 a0001c0001t0007g0024 a0001c0001t0009g0057 a0001c0001t0010g0207 a0001c0001t0011g0081 a0001c0004t0001g0254 a0003c0002t0001g0058 a0004c0005t0001g0099 a0005c0006t0001g0272	191	440	0.4341	-9	c.27 others(20): Show c.2734_*2742delAATAATAAT		KCNN4	ENSG00000104783.15	transcript	ENST00000648319.1	protein_coding					2182		chr19	TogoVar
KCNN4_chr19_43761533_43785973	43764394	TTATTATT others(2): Show TTATTATTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG02015.hp1 HG02818.hp1 others(4): Show HG00738.hp2 HG02015.hp1 HG02818.hp1 HG03041.hp1 HG03471.hp2 NA18941.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0120 a0001c0001t0002g0150 a0001c0001t0002g0160 others(4): Show a0001c0001t0002g0120 a0001c0001t0002g0150 a0001c0001t0002g0160 a0001c0001t0002g0198 a0001c0001t0002g0243 a0001c0001t0002g0282 a0001c0001t0008g0342	7	440	0.0159	-9	c.26 others(20): Show c.2690_*2698delGTAATAATA		KCNN4	ENSG00000104783.15	transcript	ENST00000648319.1	protein_coding					2138		chr19	TogoVar
KCNN4_chr19_43761533_43785973	43783330	CTTTTTTT others(2): Show CTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(120): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02965.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03834.hp1 HG04184.hp1 HG04184.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18977.hp1 NA18978.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0006 a0001c0001 a0001c0004 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0004t0001 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(93): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0095 a0001c0001t0001g0125 a0001c0001t0001g0176 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0002g0011 a0001c0001t0002g0044 a0001c0001t0002g0183 a0001c0001t0002g0198 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0230 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0270 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0204 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0349 a0001c0001t0004g0213 a0001c0001t0005g0189 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0005g0212 a0001c0001t0006g0264 a0001c0001t0008g0191 a0001c0001t0009g0057 a0001c0001t0010g0207 a0001c0001t0012g0241 a0001c0004t0001g0254 a0005c0006t0001g0272	123	440	0.2796	-9	c.-24 others(20): Show c.-2478_-2470delAAAAAAAAA		KCNN4	ENSG00000104783.15	transcript	ENST00000648319.1	protein_coding					2358		chr19	TogoVar
KCNQ1_chr11_2440008_2854105	2443669	ACCCAGGG others(2): Show ACCCAGGGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 NA18522.hp1 NA18522.hp2 others(2): Show HG02886.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0005t0001	a0001c0001t0001g0200 a0001c0001t0005g0202 a0001c0001t0007g0199 others(2): Show a0001c0001t0001g0200 a0001c0001t0005g0202 a0001c0001t0007g0199 a0001c0001t0009g0201 a0001c0005t0001g0203	5	208	0.0240	-9	c.-14 others(20): Show c.-1429_-1421delCCCAGGGTG		KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding					1338		chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2456763	TCCAAAAA others(2): Show TCCAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02622.hp1 others(7): Show HG02258.hp1 HG02486.hp1 HG02622.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03130.hp1 HG03471.hp1 NA19240.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0009	a0001c0001 a0003c0006 a0004c0009 others(1): Show a0001c0001 a0003c0006 a0004c0009 a0009c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0003c0006t0010 a0004c0009t0002 a0009c0014t0001	a0001c0001t0001g0020 a0001c0001t0001g0146 a0001c0001t0001g0147 others(7): Show a0001c0001t0001g0020 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0004g0019 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0013g0207 a0003c0006t0010g0012 a0004c0009t0002g0206 a0009c0014t0001g0037	10	208	0.0481	-9	c.386 others(28): Show c.386+11280_386+11288delCCAAAAAAA		KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	1/15						chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2501718	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01243.hp1 others(3): Show HG00642.hp1 HG00741.hp2 HG01243.hp1 HG01256.hp2 HG02145.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0003t0001	a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0148 others(3): Show a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0004g0143 a0001c0001t0007g0018 a0001c0003t0001g0062	6	208	0.0289	-9	c.387 others(28): Show c.387-26189_387-26181delAAAAAAAAA		KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2756951	TAAAAAAA others(2): Show TAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00642.hp2 others(20): Show HG00280.hp2 HG00639.hp2 HG00642.hp2 HG01106.hp1 HG01255.hp1 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG04115.hp2 NA19030.hp2 NA20752.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0003c0006 a0006c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0003t0001 a0001c0003t0011 a0001c0005t0001 a0003c0006t0004 a0006c0011t0001	a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0033 others(20): Show a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0078 a0001c0001t0001g0105 a0001c0001t0001g0122 a0001c0001t0001g0140 a0001c0001t0001g0157 a0001c0001t0001g0175 a0001c0001t0001g0191 a0001c0001t0004g0019 a0001c0001t0004g0188 a0001c0001t0005g0022 a0001c0001t0007g0001 a0001c0001t0009g0026 a0001c0003t0001g0099 a0001c0003t0011g0058 a0001c0005t0001g0162 a0003c0006t0004g0011 a0006c0011t0001g0096	23	208	0.1106	-9	c.151 others(30): Show c.1515-11871_1515-11863delAAAAAAAAA		KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ2_chr20_63395208_63477655	63443451	TCACCATC others(2): Show TCACCATCAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02886.hp2 HG02896.hp2 others(2): Show HG02055.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0087 a0001c0002t0023 a0001c0002t0087	a0001c0002t0023g0027 a0001c0002t0023g0104 a0001c0002t0023g0106 others(2): Show a0001c0002t0023g0027 a0001c0002t0023g0104 a0001c0002t0023g0106 a0001c0002t0023g0107 a0001c0002t0087g0105	5	330	0.0152	-9	c.691 others(24): Show c.691-929_691-921delGTGATGGTG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
KCNQ3_chr8_132115861_132486095	132234338	GTTTTTTT others(2): Show GTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02055.hp2 others(14): Show HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02615.hp1 HG02723.hp2 HG02818.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03225.hp2 HG03471.hp2 HG03704.hp2 HG03710.hp2 HG04199.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(14): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0026 a0001c0001t0031 a0001c0001t0036 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0076 a0001c0001t0093 a0005c0009t0019	a0001c0001t0004g0075 a0001c0001t0007g0171 a0001c0001t0008g0006 others(14): Show a0001c0001t0004g0075 a0001c0001t0007g0171 a0001c0001t0008g0006 a0001c0001t0013g0080 a0001c0001t0014g0108 a0001c0001t0017g0139 a0001c0001t0018g0035 a0001c0001t0026g0088 a0001c0001t0031g0165 a0001c0001t0036g0032 a0001c0001t0052g0049 a0001c0001t0055g0053 a0001c0001t0056g0087 a0001c0001t0058g0065 a0001c0001t0076g0063 a0001c0001t0093g0131 a0005c0009t0019g0041	17	176	0.0966	-9	c.387 others(28): Show c.387-48166_387-48158delAAAAAAAAA		KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14						chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132388014	GGAAGAGG others(2): Show GGAAGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02723.hp2 others(1): Show HG02615.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0052 a0001c0001t0068 others(1): Show a0001c0001t0004 a0001c0001t0052 a0001c0001t0068 a0001c0001t0076	a0001c0001t0004g0061 a0001c0001t0052g0049 a0001c0001t0068g0056 others(1): Show a0001c0001t0004g0061 a0001c0001t0052g0049 a0001c0001t0068g0056 a0001c0001t0076g0063	4	176	0.0227	-9	c.386 others(28): Show c.386+92124_386+92132delTTCCTCTTC		KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14						chr8	TogoVar
KCNQ5_chr6_72617064_73203853	72787004	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02451.hp1 others(5): Show HG02109.hp1 HG02258.hp1 HG02451.hp1 HG02809.hp2 HG02895.hp2 HG03041.hp1 HG03453.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0004 a0001c0001t0027 a0001c0002t0001 others(5): Show a0001c0001t0004 a0001c0001t0027 a0001c0002t0001 a0001c0002t0003 a0001c0002t0031 a0001c0003t0015 a0001c0003t0033 a0001c0005t0006	a0001c0001t0004g0061 a0001c0001t0027g0030 a0001c0002t0001g0002 others(5): Show a0001c0001t0004g0061 a0001c0001t0027g0030 a0001c0002t0001g0002 a0001c0002t0003g0071 a0001c0002t0031g0057 a0001c0003t0015g0077 a0001c0003t0033g0079 a0001c0005t0006g0017	8	80	0.1000	-9	c.398 others(30): Show c.398+164434_398+164442delAAAAAAAAA		KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73051705	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00741.hp2 HG02109.hp2 others(11): Show HG00597.hp2 HG00741.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02965.hp2 HG02970.hp1 HG03516.hp2 NA18966.hp1 NA19043.hp2 NA19058.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(10): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0036 a0001c0002t0001 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0002t0021 a0001c0003t0009 a0001c0007t0019 a0001c0010t0039	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0005g0074 others(11): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0005g0074 a0001c0001t0009g0037 a0001c0001t0012g0068 a0001c0001t0036g0070 a0001c0002t0001g0055 a0001c0002t0010g0028 a0001c0002t0011g0053 a0001c0002t0013g0042 a0001c0002t0021g0038 a0001c0003t0009g0080 a0001c0007t0019g0001 a0001c0010t0039g0027	14	80	0.1750	-9	c.616 others(26): Show c.616+9670_616+9678delAAAAAAAAA		KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73164719	ACTCTATA others(2): Show ACTCTATATT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03453.hp1 HG02257.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0032 a0001c0003t0033 a0001c0001t0032 a0001c0003t0033	a0001c0001t0032g0035 a0001c0003t0033g0079 a0001c0001t0032g0035 a0001c0003t0033g0079	2	80	0.0250	-9	c.146 others(28): Show c.1469-5026_1469-5018delCTCTATATT		KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	10/13						chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73186645	ACTCAAGA others(2): Show ACTCAAGAGC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02723.hp1 others(4): Show HG02109.hp1 HG02559.hp2 HG02723.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0001t0028 a0001c0001t0036 others(3): Show a0001c0001t0027 a0001c0001t0028 a0001c0001t0036 a0001c0002t0013 a0001c0002t0030 a0001c0002t0031	a0001c0001t0027g0030 a0001c0001t0028g0049 a0001c0001t0036g0070 others(4): Show a0001c0001t0027g0030 a0001c0001t0028g0049 a0001c0001t0036g0070 a0001c0002t0013g0042 a0001c0002t0013g0043 a0001c0002t0030g0059 a0001c0002t0031g0057	7	80	0.0875	-9	c.157 others(28): Show c.1578-3925_1578-3917delCAAGAGCCT		KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNRG_chr13_50010444_50025922	50015093	AAATATAT others(2): Show AAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01168.hp1 others(13): Show HG00099.hp1 HG00738.hp1 HG01168.hp1 HG01255.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG02071.hp1 HG02647.hp1 HG02735.hp1 NA18956.hp1 NA18993.hp1 NA19009.hp1 NA19058.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0002 a0001c0001t0001g0014	16	448	0.0357	-9	c.-40 others(18): Show c.-400_-392delAATATATAT		KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding					350		chr13	TogoVar
KCNT1_chr9_135697185_135800502	135756967	GTCCCCAC others(2): Show GTCCCCACCC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG00741.hp2 others(29): Show HG00544.hp1 HG00609.hp2 HG00741.hp2 HG01081.hp2 HG01167.hp2 HG01358.hp1 HG01358.hp2 HG01993.hp2 HG02074.hp2 HG02080.hp1 HG02451.hp1 HG02615.hp1 HG02809.hp1 HG02809.hp2 HG02976.hp1 HG03017.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18943.hp1 NA18947.hp1 NA18959.hp2 NA19005.hp1 NA19005.hp2	a0001 a0007 a0009 others(1): Show a0001 a0007 a0009 a0011	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0021 a0001c0022 a0007c0018 a0009c0012 a0011c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0034 a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 a0001c0003t0031 a0001c0004t0004 a0001c0004t0012 a0001c0007t0001 a0001c0021t0003 a0001c0022t0017 a0007c0018t0004 a0009c0012t0003 a0011c0011t0001	a0001c0001t0001g0183 a0001c0001t0001g0230 a0001c0001t0003g0218 others(29): Show a0001c0001t0001g0183 a0001c0001t0001g0230 a0001c0001t0003g0218 a0001c0001t0003g0222 a0001c0001t0005g0175 a0001c0001t0013g0176 a0001c0002t0001g0090 a0001c0002t0001g0121 a0001c0002t0001g0184 a0001c0002t0001g0213 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0002g0219 a0001c0002t0002g0228 a0001c0002t0003g0120 a0001c0002t0005g0220 a0001c0002t0034g0179 a0001c0003t0001g0034 a0001c0003t0001g0227 a0001c0003t0002g0027 a0001c0003t0009g0177 a0001c0003t0031g0269 a0001c0004t0004g0025 a0001c0004t0004g0224 a0001c0004t0012g0225 a0001c0004t0012g0226 a0001c0007t0001g0232 a0001c0021t0003g0089 a0001c0022t0017g0001 a0007c0018t0004g0223 a0009c0012t0003g0241 a0011c0011t0001g0044	32	272	0.1177	-9	c.600 others(22): Show c.600+51_600+59delCCCTCCCCA		KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	7/30					INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135758910	ATGCCCAC others(2): Show ATGCCCACTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00642.hp1 others(12): Show HG00140.hp2 HG00280.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01081.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG01978.hp1 HG01981.hp2 HG02273.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0015 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0038 a0001c0001t0001g0106 a0001c0001t0001g0118 others(12): Show a0001c0001t0001g0038 a0001c0001t0001g0106 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0015g0103 a0001c0001t0015g0104 a0001c0003t0001g0069 a0001c0003t0001g0248 a0001c0003t0002g0247	15	272	0.0552	-9	c.854 others(24): Show c.854+410_854+418delTGTGCCCAC		KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	10/30					INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135774246	CGTGTGTG others(2): Show CGTGTGTGGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02258.hp1 others(7): Show HG01884.hp2 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG03209.hp2 HG03516.hp1 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0022 others(1): Show a0001c0002 a0001c0003 a0001c0022 a0001c0029	a0001c0002t0001 a0001c0002t0002 a0001c0002t0025 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0025 a0001c0003t0008 a0001c0022t0017 a0001c0029t0023	a0001c0002t0001g0172 a0001c0002t0002g0021 a0001c0002t0002g0107 others(7): Show a0001c0002t0001g0172 a0001c0002t0002g0021 a0001c0002t0002g0107 a0001c0002t0002g0114 a0001c0002t0002g0145 a0001c0002t0002g0150 a0001c0002t0025g0149 a0001c0003t0008g0043 a0001c0022t0017g0001 a0001c0029t0023g0048	10	272	0.0368	-9	c.224 others(28): Show c.2244-1052_2244-1044delGTGTGGTGT		KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	19/30					INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT2_chr1_196220779_196613440	196336994	AGACTTCA others(2): Show AGACTTCATT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp2 HG02165.hp2 HG00323.hp1 HG01081.hp2 HG02165.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0002 a0001c0004t0004g0132 a0001c0004t0004g0133 a0001c0004t0004g0002 a0001c0004t0004g0132 a0001c0004t0004g0133	3	136	0.0221	-9	c.178 others(28): Show c.1784-2943_1784-2935delAATGAAGTC		KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	16/27						chr1	TogoVar
KCNT2_chr1_196220779_196613440	196488471	TTTGTTCC others(2): Show TTTGTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp2 HG02647.hp1 others(14): Show HG02258.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02818.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03579.hp1 HG03669.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 others(14): Show a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0120 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0003g0089 a0001c0001t0003g0103 a0001c0001t0007g0119	17	136	0.1250	-9	c.275 others(26): Show c.275+1358_275+1366delGAGGAACAA		KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	3/27						chr1	TogoVar
KCTD11_chr17_7347162_7359944	7357549	GAGAAGAA others(2): Show GAGAAGAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00735.hp2 others(49): Show HG00408.hp1 HG00408.hp2 HG00735.hp2 HG01123.hp2 HG01346.hp1 HG02080.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG03669.hp2 HG03834.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19065.hp2 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0006g0000 a0001c0001t0010g0000	52	418	0.1244	-9	c.39 others(20): Show c.3909_*3917delAGAAGAAGA		KCTD11	ENSG00000213859.8	transcript	ENST00000333751.8	protein_coding					2606	WARNING_TRANSCRIPT_NO_START_CODON	chr17	TogoVar
KCTD12_chr13_76875175_76891405	76882751	CCAAACTC others(2): Show CCAAACTCAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00597.hp1 others(95): Show HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01123.hp2 HG01884.hp1 HG01884.hp2 HG01981.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 NA18940.hp1 NA18944.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19011.hp1 NA19056.hp1 NA19058.hp2 NA19059.hp1 NA19060.hp2 NA19065.hp1 NA19076.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0002c0007	a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 others(36): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0045 a0001c0001t0047 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0057 a0001c0001t0064 a0001c0001t0069 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0085 a0001c0001t0093 a0001c0001t0101 a0001c0001t0102 a0001c0001t0111 a0001c0001t0112 a0001c0001t0117 a0001c0001t0119 a0001c0001t0121 a0001c0001t0125 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0137 a0001c0001t0138 a0001c0003t0045 a0001c0003t0070 a0001c0004t0100 a0001c0005t0054 a0002c0007t0053	a0001c0001t0003g0000 a0001c0001t0012g0000 a0001c0001t0014g0000 others(36): Show a0001c0001t0003g0000 a0001c0001t0012g0000 a0001c0001t0014g0000 a0001c0001t0015g0000 a0001c0001t0018g0000 a0001c0001t0023g0000 a0001c0001t0024g0000 a0001c0001t0045g0000 a0001c0001t0047g0000 a0001c0001t0051g0000 a0001c0001t0052g0000 a0001c0001t0053g0000 a0001c0001t0057g0000 a0001c0001t0064g0000 a0001c0001t0069g0000 a0001c0001t0075g0000 a0001c0001t0076g0000 a0001c0001t0077g0000 a0001c0001t0078g0000 a0001c0001t0085g0000 a0001c0001t0093g0000 a0001c0001t0101g0000 a0001c0001t0102g0000 a0001c0001t0111g0000 a0001c0001t0112g0000 a0001c0001t0117g0000 a0001c0001t0119g0000 a0001c0001t0121g0000 a0001c0001t0125g0000 a0001c0001t0127g0000 a0001c0001t0128g0000 a0001c0001t0129g0000 a0001c0001t0137g0000 a0001c0001t0138g0000 a0001c0003t0045g0000 a0001c0003t0070g0000 a0001c0004t0100g0000 a0001c0005t0054g0000 a0002c0007t0053g0000	98	468	0.2094	-9	c.24 others(20): Show c.2411_*2419delTTGAGTTTG		KCTD12	ENSG00000178695.6	transcript	ENST00000377474.4	protein_coding	1/1				2411		chr13	TogoVar
KCTD16_chr5_144165873_144490686	144358090	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp1 HG01175.hp2 others(7): Show HG00741.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp2 HG01934.hp2 HG02055.hp2 HG02451.hp1 HG03098.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 others(5): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0021 a0001c0001t0028 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057	a0001c0001t0003g0030 a0001c0001t0010g0080 a0001c0001t0010g0107 others(7): Show a0001c0001t0003g0030 a0001c0001t0010g0080 a0001c0001t0010g0107 a0001c0001t0013g0031 a0001c0001t0021g0004 a0001c0001t0021g0063 a0001c0001t0028g0025 a0001c0001t0055g0001 a0001c0001t0056g0003 a0001c0001t0057g0005	10	156	0.0641	-9	c.833 others(30): Show c.833-115554_833-115546delTTTTTTTTT		KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD16_chr5_144165873_144490686	144409819	AAACAACA others(2): Show AAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02055.hp2 HG01167.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0055 a0001c0001t0028 a0001c0001t0055	a0001c0001t0028g0025 a0001c0001t0055g0001 a0001c0001t0028g0025 a0001c0001t0055g0001	2	156	0.0128	-9	c.833 others(28): Show c.833-63823_833-63815delCAACAACAA		KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD1_chr18_26449910_26553553	26453072	AAATAATA others(2): Show AAATAATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02257.hp1 HG02572.hp1 others(4): Show HG02027.hp1 HG02257.hp1 HG02572.hp1 HG02647.hp1 HG02723.hp2 HG03471.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0004t0003 a0002c0003t0001 a0001c0001t0001 a0001c0004t0003 a0002c0003t0001	a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0213 others(4): Show a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0213 a0001c0001t0001g0240 a0001c0004t0003g0141 a0001c0004t0003g0220 a0002c0003t0001g0314	7	338	0.0207	-9	c.26 others(20): Show c.2662_*2670delATTATTATT		KCTD1	ENSG00000134504.14	transcript	ENST00000580059.7	protein_coding					1837		chr18	TogoVar
KCTD20_chr6_36438000_36496141	36467318	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00609.hp1 others(52): Show HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01516.hp2 HG01981.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02135.hp2 HG02280.hp1 HG02615.hp1 HG02717.hp1 HG02738.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp2 HG03490.hp2 HG03669.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 NA18522.hp1 NA18942.hp1 NA18946.hp1 NA18951.hp2 NA18956.hp1 NA18957.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA19009.hp1 NA19011.hp2 NA19055.hp2 NA19056.hp2 NA19062.hp2 NA19066.hp2 NA19070.hp2 NA19078.hp1 NA19086.hp2 NA19087.hp2 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0007 a0001c0001 a0002c0002 a0006c0007	a0001c0001t0006 a0002c0002t0002 a0002c0002t0004 others(2): Show a0001c0001t0006 a0002c0002t0002 a0002c0002t0004 a0002c0002t0025 a0006c0007t0002	a0001c0001t0006g0208 a0002c0002t0002g0001 a0002c0002t0002g0026 others(50): Show a0001c0001t0006g0208 a0002c0002t0002g0001 a0002c0002t0002g0026 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0044 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0053 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0100 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0116 a0002c0002t0002g0118 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0004g0108 a0002c0002t0004g0109 a0002c0002t0004g0110 a0002c0002t0004g0112 a0002c0002t0004g0122 a0002c0002t0004g0132 a0002c0002t0025g0087 a0006c0007t0002g0047	55	366	0.1503	-9	c.-46 others(26): Show c.-46-2704_-46-2696delTTTTTTTTT		KCTD20	ENSG00000112078.14	transcript	ENST00000373731.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
KCTD8_chr4_44168903_44453809	44283025	TTTATTAT others(2): Show TTTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG02109.hp1 others(9): Show HG00642.hp1 HG00741.hp1 HG02109.hp1 HG02135.hp2 HG02572.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG03041.hp1 HG03492.hp2 NA18966.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0101 others(9): Show a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0101 a0001c0001t0001g0185 a0001c0001t0001g0198 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0273	12	294	0.0408	-9	c.962 others(30): Show c.962-107784_962-107776delTAATAATAA		KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1						chr4	TogoVar
KCTD9_chr8_25422847_25463433	25427382	TAATTTAC others(2): Show TAATTTACAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18956.hp2 NA18980.hp2 others(5): Show NA18946.hp2 NA18956.hp2 NA18980.hp2 NA19001.hp1 NA19058.hp1 NA19065.hp2 NA19067.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0018 others(2): Show a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0010g0135 a0001c0001t0010g0189	8	350	0.0229	-9	c.24 others(20): Show c.2466_*2474delTTGTAAATT		KCTD9	ENSG00000104756.17	transcript	ENST00000221200.9	protein_coding					464		chr8	TogoVar
KDELR1_chr19_48377575_48396551	48388705	GAAAGGAA others(2): Show GAAAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00621.hp2 others(106): Show HG00099.hp2 HG00280.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01943.hp1 HG01981.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18959.hp2 NA18965.hp1 NA18966.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18980.hp2 NA18987.hp1 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19059.hp2 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(28): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0118 a0001c0001t0006g0075 a0001c0001t0006g0078 a0001c0001t0009g0079 a0001c0002t0001g0082	109	432	0.2523	-9	c.351 others(24): Show c.351+839_351+847delTCTTCCTTT		KDELR1	ENSG00000105438.9	transcript	ENST00000330720.7	protein_coding	3/4						chr19	TogoVar
KDELR2_chr7_6456089_6489152	6464197	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG00639.hp1 others(22): Show HG00423.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG01109.hp1 HG01123.hp2 HG01928.hp1 HG01952.hp1 HG02071.hp1 HG02293.hp2 HG02615.hp2 HG02738.hp2 HG03492.hp1 HG03540.hp1 HG03710.hp2 HG04184.hp2 NA18950.hp2 NA18985.hp1 NA18985.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19055.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0063 others(20): Show a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0063 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0164 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0261 a0001c0001t0002g0309 a0001c0001t0003g0247 a0001c0001t0016g0067	25	420	0.0595	-9	c.605 others(26): Show c.605-1031_605-1023delTTTTTTTTT		KDELR2	ENSG00000136240.10	transcript	ENST00000258739.9	protein_coding	4/4						chr7	TogoVar
KDM1B_chr6_18150422_18228854	18155436	AGCGGCGG others(2): Show AGCGGCGGCG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02572.hp2 others(4): Show HG02109.hp1 HG02280.hp2 HG02572.hp2 HG02717.hp1 HG02809.hp1 HG03209.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0017 a0001c0003t0016 a0001c0001t0006 a0001c0001t0017 a0001c0003t0016	a0001c0001t0006g0056 a0001c0001t0006g0059 a0001c0001t0006g0066 others(4): Show a0001c0001t0006g0056 a0001c0001t0006g0059 a0001c0001t0006g0066 a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0017g0058 a0001c0003t0016g0099	7	392	0.0179	-9	c.-18 others(18): Show c.-181_-173delGGCGGCGGC		KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	1/22				4440	INFO_REALIGN_3_PRIME	chr6	TogoVar
KDM2A_chr11_67114263_67263082	67168583	ACACACAC others(2): Show ACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG01081.hp2 others(7): Show HG00558.hp2 HG00639.hp1 HG01081.hp2 HG01261.hp2 HG02056.hp1 HG03516.hp1 NA19000.hp1 NA19003.hp1 NA19065.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0001 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0055 others(7): Show a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0055 a0001c0001t0001g0080 a0001c0001t0001g0119 a0001c0001t0001g0167 a0001c0001t0001g0179 a0001c0001t0001g0188 a0001c0001t0004g0211 a0001c0001t0011g0036	10	220	0.0455	-9	c.43- others(26): Show c.43-11495_43-11487delCACACACAC		KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	2/20						chr11	TogoVar
KDM2A_chr11_67114263_67263082	67260359	CAAAAAAA others(2): Show CAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp1 others(67): Show HG00140.hp1 HG00408.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01496.hp1 HG01943.hp1 HG01978.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18945.hp1 NA18948.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19011.hp2 NA19030.hp2 NA19057.hp1 NA19060.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19084.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0005 others(1): Show a0001c0001 a0001c0004 a0002c0005 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0004t0001 a0002c0005t0001 a0004c0007t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(67): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0003g0025 a0001c0001t0004g0034 a0001c0001t0004g0169 a0001c0001t0004g0185 a0001c0001t0004g0211 a0001c0001t0011g0036 a0001c0004t0001g0195 a0002c0005t0001g0220 a0004c0007t0001g0039	70	220	0.3182	-9	c.53 others(20): Show c.5305_*5313delAAAAAAAAA		KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding					2278		chr11	TogoVar

Search by Variant

Search

Search Results