Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
KCNMB2_chr3_178531436_178849429	178571447	GATATATA others(13): Show GATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp2 HG02258.hp2 others(4): Show HG00639.hp2 HG02109.hp2 HG02258.hp2 HG02976.hp1 HG03471.hp1 HG03486.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0200 a0001c0001t0002g0080 a0001c0001t0002g0089 others(4): Show a0001c0001t0001g0200 a0001c0001t0002g0080 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0003g0081 a0001c0001t0003g0088	7	232	0.0302	-20	c.-68 others(39): Show c.-68+34756_-68+34775delTATATATATATATATATATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178614247	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01192.hp1 HG01515.hp2 others(3): Show HG00280.hp1 HG01192.hp1 HG01515.hp2 HG01517.hp1 HG02109.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0200 a0001c0001t0002g0168 a0001c0001t0002g0178 others(3): Show a0001c0001t0001g0200 a0001c0001t0002g0168 a0001c0001t0002g0178 a0001c0001t0003g0145 a0001c0002t0001g0148 a0001c0002t0001g0175	6	232	0.0259	-20	c.-68 others(39): Show c.-68+77566_-68+77585delATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178655095	CCTCTCTC others(13): Show CCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA20300.hp1 HG03139.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0001 a0001c0001t0004g0002 a0001c0001t0002g0001 a0001c0001t0004g0002	2	232	0.0086	-20	c.-68 others(41): Show c.-68+118413_-68+118432delCTCTCTCTCTCTCTCTCTCT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757842	TATATATA others(13): Show TATATATATCCAAGAGGATAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp2 HG01069.hp2 others(27): Show HG00544.hp1 HG00735.hp2 HG01069.hp2 HG01169.hp2 HG01346.hp1 HG01358.hp1 HG01515.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02300.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03471.hp1 HG03540.hp1 HG03710.hp1 HG03834.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp2 NA18949.hp2 NA18953.hp2 NA18980.hp1 NA19003.hp1 NA19010.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0005t0003	a0001c0001t0003g0058 a0001c0001t0003g0088 a0001c0001t0003g0122 others(27): Show a0001c0001t0003g0058 a0001c0001t0003g0088 a0001c0001t0003g0122 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0163 a0001c0001t0003g0177 a0001c0001t0004g0007 a0001c0001t0004g0078 a0001c0001t0004g0160 a0001c0001t0004g0181 a0001c0001t0004g0185 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0072 a0001c0002t0001g0079 a0001c0002t0001g0112 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0134 a0001c0002t0001g0184 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0002g0053 a0001c0002t0006g0085 a0001c0002t0006g0199 a0001c0005t0003g0051	30	232	0.1293	-20	c.-67 others(39): Show c.-67-49492_-67-49473delCCAAGAGGATACATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759285	CCAAGAGG others(13): Show CCAAGAGGAGACATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	232	0.0043	-20	c.-67 others(39): Show c.-67-48057_-67-48038delCAAGAGGAGACATATATATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759324	TATATATA others(13): Show TATATATATATCTCCAAGAGG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03579.hp2 HG02615.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0219 a0001c0001t0004g0202 a0001c0001t0002g0219 a0001c0001t0004g0202	2	232	0.0086	-20	c.-67 others(39): Show c.-67-48008_-67-47989delCTCCAAGAGGATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759762	ATATATCC others(13): Show ATATATCCAAGAGGATATATC	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	232	0.0043	-20	c.-67 others(39): Show c.-67-47575_-67-47556delCCAAGAGGATATATCTATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN1_chr19_17962107_18005085	17964104	TGTGAATG others(13): Show TGTGAATGAATGAATGAATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG02055.hp2 HG02886.hp1 HG01358.hp1 HG02055.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0002g0197 a0001c0001t0002g0209 a0001c0001t0002g0213	3	378	0.0079	-20	c.-32 others(31): Show c.-3294_-3275delGTGAATGAATGAATGAATTA	KCNN1	ENSG00000105642.16	transcript	ENST00000684775.1	protein_coding		3002		chr19	TogoVar
KCNN1_chr19_17962107_18005085	17966023	GCCTTCCT others(13): Show GCCTTCCTTCCTTCCTTCCTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01099.hp1 HG01243.hp1 others(6): Show HG00140.hp2 HG01099.hp1 HG01243.hp1 HG03195.hp1 NA18946.hp1 NA18947.hp2 NA18978.hp2 NA18998.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0323 a0001c0001t0002g0206 a0001c0001t0002g0285 others(6): Show a0001c0001t0001g0323 a0001c0001t0002g0206 a0001c0001t0002g0285 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0297 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0008g0299	9	378	0.0238	-20	c.-13 others(31): Show c.-1375_-1356delCCTTCCTTCCTTCCTTCCTT	KCNN1	ENSG00000105642.16	transcript	ENST00000684775.1	protein_coding		1083		chr19	TogoVar
KCNN1_chr19_17962107_18005085	17970289	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG02015.hp1 others(13): Show HG00558.hp2 HG00609.hp2 HG02015.hp1 HG02027.hp2 HG02165.hp2 NA18942.hp1 NA18954.hp2 NA18962.hp1 NA18983.hp1 NA18985.hp1 NA18998.hp1 NA19056.hp2 NA19063.hp1 NA19068.hp1 NA19074.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 others(13): Show a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165	16	378	0.0423	-20	c.-82 others(37): Show c.-82+2998_-82+3017delTTTTTTTTTTTTTTTTTTTT	KCNN1	ENSG00000105642.16	transcript	ENST00000684775.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
KCNN3_chr1_154692455_154875281	154728633	GAGAGGAG others(13): Show GAGAGGAGAAAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0107 a0001c0001t0107g0107	1	238	0.0042	-20	c.159 others(39): Show c.1591-2627_1591-2608delTCTCTTCTCTTTTCTCCTCT	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	4/7			chr1	TogoVar
KCNN3_chr1_154692455_154875281	154771058	GATAAATA others(13): Show GATAAATAAATAAATAAATAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG00639.hp2 HG00735.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0070 a0003c0003t0096 a0001c0001t0070 a0003c0003t0096	a0001c0001t0070g0093 a0003c0003t0096g0171 a0001c0001t0070g0093 a0003c0003t0096g0171	2	238	0.0084	-20	c.144 others(37): Show c.1448+897_1448+916delTTATTTATTTATTTATTTAT	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7			chr1	TogoVar
KCNQ1_chr11_2440008_2854105	2458633	CTGGATGG others(13): Show CTGGATGGATGGATGGATGGA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02280.hp1 others(19): Show HG01891.hp2 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp1 NA19043.hp2 NA20300.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0004c0009 a0001c0001 a0003c0006 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0003c0006t0004 a0004c0009t0002	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0040 others(19): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0122 a0001c0001t0001g0140 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0002g0016 a0001c0001t0002g0189 a0001c0001t0003g0174 a0001c0001t0004g0188 a0001c0001t0006g0017 a0001c0001t0006g0141 a0001c0001t0006g0187 a0001c0001t0006g0192 a0001c0001t0010g0165 a0003c0006t0004g0011 a0004c0009t0002g0023	22	208	0.1058	-20	c.386 others(39): Show c.386+13183_386+13202delGGATGGATGGATGGATGGAT	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2471707	TGTGTGTA others(13): Show TGTGTGTATGTGTGCATGGGC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp2 HG02897.hp1 HG02630.hp1 HG02886.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0005t0001 a0001c0001t0002 a0001c0001t0005 a0001c0005t0001	a0001c0001t0002g0185 a0001c0001t0005g0004 a0001c0005t0001g0203 a0001c0001t0002g0185 a0001c0001t0005g0004 a0001c0005t0001g0203	3	208	0.0144	-20	c.386 others(39): Show c.386+26250_386+26269delATGTGTGCATGGGCGTGTGT	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2515398	AGGGCGGA others(13): Show AGGGCGGAGCCCCTGGCCCAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(45): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01192.hp1 HG01255.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG01981.hp1 HG01993.hp1 HG02083.hp1 HG02280.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03239.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG06807.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp2 NA19007.hp1 NA19058.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0004c0009 a0005c0008 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0011 a0001c0007t0001 a0004c0009t0002 a0005c0008t0002 a0008c0012t0002	a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0078 others(45): Show a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0134 a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0104 a0001c0001t0002g0116 a0001c0001t0002g0136 a0001c0001t0002g0161 a0001c0001t0002g0179 a0001c0001t0003g0080 a0001c0001t0003g0084 a0001c0001t0003g0100 a0001c0001t0003g0174 a0001c0001t0003g0180 a0001c0001t0003g0196 a0001c0001t0006g0141 a0001c0001t0006g0187 a0001c0001t0007g0018 a0001c0001t0008g0095 a0001c0001t0008g0107 a0001c0001t0008g0135 a0001c0001t0009g0026 a0001c0001t0012g0098 a0001c0001t0013g0207 a0001c0002t0001g0092 a0001c0002t0001g0097 a0001c0002t0001g0102 a0001c0002t0001g0195 a0001c0002t0002g0013 a0001c0002t0002g0130 a0001c0002t0002g0160 a0001c0003t0001g0081 a0001c0003t0011g0058 a0001c0007t0001g0103 a0001c0007t0001g0149 a0004c0009t0002g0206 a0005c0008t0002g0064 a0008c0012t0002g0173	48	208	0.2308	-20	c.387 others(39): Show c.387-12523_387-12504delAGCCCCTGGCCCAGGGGCGG	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2672373	ATATGATT others(13): Show ATATGATTGAGCTCAGGCTGG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01993.hp1 others(16): Show HG01069.hp1 HG01071.hp1 HG01993.hp1 HG02148.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG03017.hp2 HG03130.hp2 HG03471.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA18942.hp1 NA18947.hp1 NA18983.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0005c0008 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0003t0011 a0001c0005t0001 a0005c0008t0002 a0006c0013t0002	a0001c0001t0001g0045 a0001c0001t0001g0108 a0001c0001t0002g0015 others(16): Show a0001c0001t0001g0045 a0001c0001t0001g0108 a0001c0001t0002g0015 a0001c0001t0002g0056 a0001c0001t0002g0066 a0001c0001t0002g0086 a0001c0001t0003g0080 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0005g0202 a0001c0001t0006g0192 a0001c0002t0002g0013 a0001c0002t0002g0090 a0001c0003t0011g0058 a0001c0005t0001g0005 a0001c0005t0001g0162 a0001c0005t0001g0203 a0005c0008t0002g0121 a0006c0013t0002g0027	19	208	0.0914	-20	c.151 others(41): Show c.1514+10297_1514+10316delATTGAGCTCAGGCTGGTATG	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2761262	GGCCTGTC others(13): Show GGCCTGTCGGTGCCTGTTGGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00735.hp1 others(27): Show HG00323.hp2 HG00558.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp2 HG01496.hp2 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02148.hp1 HG02280.hp1 HG02451.hp1 HG02683.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03209.hp2 HG03654.hp1 HG04115.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA19007.hp2 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0009 a0001c0001 a0001c0003 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0004c0009t0002	a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0073 others(27): Show a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0108 a0001c0001t0001g0134 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0200 a0001c0001t0002g0015 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0136 a0001c0001t0002g0166 a0001c0001t0003g0112 a0001c0001t0003g0196 a0001c0001t0004g0003 a0001c0001t0005g0050 a0001c0001t0005g0202 a0001c0001t0006g0187 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0003t0001g0062 a0001c0003t0001g0089 a0004c0009t0002g0023	30	208	0.1442	-20	c.151 others(39): Show c.1515-7570_1515-7551delCCTGTTGGTGCCTGTCGGTG	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2814264	AGGATGGA others(13): Show AGGATGGATGGATGGTGGGAT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	208	0.0048	-20	c.179 others(41): Show c.1795-33488_1795-33469delTGGGATGGATGGATGGATGG	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2814285	GGATGGAT others(13): Show GGATGGATGGATGGATGGATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	208	0.0048	-20	c.179 others(41): Show c.1795-33466_1795-33447delGGATAGATGGATGGATGGAT	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2835394	GACTCACA others(13): Show GACTCACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0023 a0004c0009t0002g0023	1	208	0.0048	-20	c.179 others(41): Show c.1795-12370_1795-12351delTCACACACACACACACACAC	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ2_chr20_63395208_63477655	63399010	AGGGAGGA others(13): Show AGGGAGGAGCGGGTGCCCACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0052 a0001c0012t0052	a0001c0012t0052g0043 a0001c0012t0052g0043	1	330	0.0030	-20	c.76 others(31): Show c.7614_*7633delCGTGGGCACCCGCTCCTCCC	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding		1197		chr20	TogoVar
KCNQ3_chr8_132115861_132486095	132168717	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03139.hp2 HG03540.hp2 others(3): Show HG02523.hp1 HG03139.hp2 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0007 a0001c0001t0039 a0001c0001t0040 others(3): Show a0001c0001t0007 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0006t0061 a0001c0006t0098	a0001c0001t0007g0171 a0001c0001t0039g0030 a0001c0001t0040g0003 others(3): Show a0001c0001t0007g0171 a0001c0001t0039g0030 a0001c0001t0040g0003 a0001c0001t0043g0034 a0001c0006t0061g0086 a0001c0006t0098g0154	6	176	0.0341	-20	c.123 others(39): Show c.1235+1597_1235+1616delCACACACACACACACACACA	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	8/14			chr8	TogoVar
KCNQ5_chr6_72617064_73203853	73016937	GCTCTGGC others(13): Show GCTCTGGCCTACATATCCCAA	G G	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0020	1	80	0.0125	-20	c.489 others(39): Show c.489+12946_489+12965delCCTACATATCCCAACTCTGG	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73067863	GATATATA others(13): Show GATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp1 NA21309.hp1 HG02055.hp1 HG03041.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0002t0011 a0001c0003t0015 a0001c0001t0004 a0001c0002t0011 a0001c0003t0015	a0001c0001t0004g0034 a0001c0002t0011g0053 a0001c0003t0015g0077 a0001c0001t0004g0034 a0001c0002t0011g0053 a0001c0003t0015g0077	3	80	0.0375	-20	c.617 others(37): Show c.617-9435_617-9416delTATATATATATATATATATA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73124966	TATATATA others(13): Show TATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	80	0.0125	-20	c.124 others(37): Show c.1247+456_1247+475delTATATATATATATACACACA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73124968	TATATATA others(13): Show TATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	80	0.0125	-20	c.124 others(37): Show c.1247+458_1247+477delTATATATATATACACACACA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73197580	TACACACA others(13): Show TACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02083.hp1 HG02145.hp2 HG02083.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0035 a0001c0011t0034 a0001c0001t0035 a0001c0011t0034	a0001c0001t0035g0033 a0001c0011t0034g0003 a0001c0001t0035g0033 a0001c0011t0034g0003	2	80	0.0250	-20	c.22 others(31): Show c.2209_*2228delACACACACACACACACACAC	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	14/14	2209	INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNT1_chr9_135697185_135800502	135765349	CGCCATCC others(13): Show CGCCATCCTCTCCCCAGGACT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(81): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00609.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18943.hp1 NA19009.hp2 NA19043.hp1 NA19065.hp2 NA19068.hp2 NA20752.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0027 a0004c0017 a0006c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(40): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0034 a0001c0002t0035 a0001c0002t0040 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0013 a0001c0003t0031 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0007 a0001c0004t0008 a0001c0004t0012 a0001c0004t0014 a0001c0004t0020 a0001c0004t0030 a0001c0004t0037 a0001c0006t0009 a0001c0006t0010 a0001c0006t0036 a0001c0009t0006 a0001c0009t0018 a0001c0010t0001 a0001c0010t0014 a0001c0013t0024 a0001c0014t0017 a0001c0015t0001 a0001c0016t0019 a0001c0027t0009 a0004c0017t0004 a0006c0018t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 others(81): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0141 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0001t0001g0214 a0001c0001t0003g0181 a0001c0001t0003g0218 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0015g0103 a0001c0001t0015g0104 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0094 a0001c0002t0001g0121 a0001c0002t0001g0154 a0001c0002t0001g0184 a0001c0002t0001g0205 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0002g0219 a0001c0002t0003g0120 a0001c0002t0004g0137 a0001c0002t0004g0257 a0001c0002t0005g0079 a0001c0002t0005g0081 a0001c0002t0005g0220 a0001c0002t0005g0270 a0001c0002t0006g0054 a0001c0002t0009g0047 a0001c0002t0034g0179 a0001c0002t0035g0109 a0001c0002t0040g0160 a0001c0003t0001g0040 a0001c0003t0001g0272 a0001c0003t0002g0027 a0001c0003t0006g0023 a0001c0003t0013g0068 a0001c0003t0031g0269 a0001c0004t0001g0005 a0001c0004t0001g0007 a0001c0004t0001g0092 a0001c0004t0001g0195 a0001c0004t0001g0209 a0001c0004t0002g0147 a0001c0004t0004g0003 a0001c0004t0004g0025 a0001c0004t0004g0224 a0001c0004t0004g0255 a0001c0004t0004g0256 a0001c0004t0004g0258 a0001c0004t0007g0006 a0001c0004t0008g0203 a0001c0004t0012g0225 a0001c0004t0012g0226 a0001c0004t0014g0002 a0001c0004t0020g0215 a0001c0004t0030g0146 a0001c0004t0037g0004 a0001c0006t0009g0012 a0001c0006t0010g0010 a0001c0006t0010g0011 a0001c0006t0036g0009 a0001c0009t0006g0159 a0001c0009t0018g0162 a0001c0010t0001g0158 a0001c0010t0014g0161 a0001c0013t0024g0046 a0001c0014t0017g0212 a0001c0015t0001g0271 a0001c0016t0019g0116 a0001c0027t0009g0268 a0004c0017t0004g0223 a0006c0018t0001g0061	84	272	0.3088	-20	c.120 others(37): Show c.1200+177_1200+196delCATCCTCTCCCCAGGACTGC	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	12/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135784482	GCTCCCTC others(13): Show GCTCCCTCCCTCCCTCCCTCC	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp1 HG00738.hp1 HG01074.hp2 others(7): Show HG00642.hp1 HG00738.hp1 HG01074.hp2 HG01167.hp1 HG01192.hp2 HG01346.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp1 NA18612.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0008 a0005c0021	a0001c0001t0001 a0001c0001t0016 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0016 a0001c0002t0002 a0001c0003t0001 a0001c0004t0002 a0002c0008t0001 a0005c0021t0001	a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0016g0102 others(7): Show a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0016g0102 a0001c0001t0016g0254 a0001c0002t0002g0131 a0001c0003t0001g0267 a0001c0004t0002g0147 a0002c0008t0001g0170 a0002c0008t0001g0171 a0005c0021t0001g0246	10	272	0.0368	-20	c.294 others(34): Show c.2944-26_2944-7delCCCTCCCTCCCTCCCTCCCT	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	25/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT2_chr1_196220779_196613440	196342428	ATATATAT others(13): Show ATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	136	0.0074	-20	c.140 others(37): Show c.1404-220_1404-201delCATATATATATATATATATA	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	14/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196411059	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00639.hp1 others(43): Show HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01981.hp2 HG02109.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp2 HG03130.hp2 HG03471.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18984.hp1 NA19009.hp1 NA19009.hp2 NA19062.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0004t0004 a0001c0007t0001 a0002c0008t0001	a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0041 others(43): Show a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0002g0007 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0076 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0005g0100 a0001c0001t0005g0106 a0001c0001t0007g0119 a0001c0001t0011g0066 a0001c0002t0001g0124 a0001c0004t0004g0132 a0001c0004t0004g0133 a0001c0007t0001g0091 a0002c0008t0001g0020	46	136	0.3382	-20	c.118 others(41): Show c.1185+11971_1185+11990delAGGAAGGAAGGAAGGAAGGA	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	12/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196500274	AAGGAAGG others(13): Show AAGGAAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	136	0.0074	-20	c.96- others(35): Show c.96-7953_96-7934delCCCTCCCTCCCTCCCTTCCT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196500278	AAGGGAGG others(13): Show AAGGGAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	136	0.0074	-20	c.96- others(35): Show c.96-7957_96-7938delCCCTCCCTCCCTCCCTCCCT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar
KCNU1_chr8_36779374_36941125	36782195	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0235 a0002c0001t0001g0235	1	294	0.0034	-20	c.-22 others(31): Show c.-2215_-2196delGTGTGTGTGTGTGTGCGCGC	KCNU1	ENSG00000215262.8	transcript	ENST00000399881.8	protein_coding		2178		chr8	TogoVar
KCNV1_chr8_109958636_109980771	109963198	TTATAATA others(13): Show TTATAATATAATATAATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01884.hp1 others(18): Show HG01243.hp1 HG01243.hp2 HG01884.hp1 HG01891.hp2 HG02145.hp2 HG02486.hp1 HG02486.hp2 HG02723.hp2 HG02896.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG03688.hp2 NA18522.hp1 NA19030.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0036 a0001c0001t0037 a0001c0001t0004 a0001c0001t0036 a0001c0001t0037	a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0022 others(3): Show a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0022 a0001c0001t0004g0027 a0001c0001t0036g0042 a0001c0001t0037g0043	21	372	0.0565	-20	c.48 others(31): Show c.4870_*4889delTTATATTATATTATATTATA	KCNV1	ENSG00000164794.9	transcript	ENST00000524391.6	protein_coding		437		chr8	TogoVar
KCTD11_chr17_7347162_7359944	7359849	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG06807.hp2 NA18522.hp2 others(1): Show HG02818.hp1 HG06807.hp2 NA18522.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0000 a0001c0002t0002g0000 a0001c0001t0003g0000 a0001c0002t0002g0000	4	418	0.0096	-20	c.62 others(31): Show c.6209_*6228delTTTATTTATTTATTTATTTA	KCTD11	ENSG00000213859.8	transcript	ENST00000333751.8	protein_coding		4906	WARNING_TRANSCRIPT_NO_START_CODON	chr17	TogoVar
KCTD14_chr11_78010715_78028276	78025118	GTATATAT others(13): Show GTATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02630.hp1 others(2): Show HG02109.hp2 HG02258.hp1 HG02630.hp1 HG02965.hp2 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0005 a0003c0004t0002 a0001c0001t0001 a0001c0001t0005 a0003c0004t0002	a0001c0001t0001g0024 a0001c0001t0001g0144 a0001c0001t0005g0146 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0144 a0001c0001t0005g0146 a0003c0004t0002g0027	5	468	0.0107	-20	c.-18 others(31): Show c.-1889_-1870delTATATATATATATATATATA	KCTD14	ENSG00000151364.17	transcript	ENST00000353172.6	protein_coding		1843		chr11	TogoVar
KCTD16_chr5_144165873_144490686	144299130	ATATATAT others(13): Show ATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	156	0.0064	-20	c.832 others(39): Show c.832+91586_832+91605delATATATATATATATATATTT	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD1_chr18_26449910_26553553	26492605	CAATAAAT others(13): Show CAATAAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0331 a0001c0008t0001g0331	1	338	0.0030	-20	c.198 others(39): Show c.1988+8447_1988+8466delTATTTATTTATTTATTTATT	KCTD1	ENSG00000134504.14	transcript	ENST00000580059.7	protein_coding	2/4			chr18	TogoVar
KCTD3_chr1_215562304_215626807	215591287	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	314	0.0032	-20	c.818 others(37): Show c.818-4029_818-4010delCTTCCTTCCTTCCTTCCTTC	KCTD3	ENSG00000136636.13	transcript	ENST00000259154.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCTD5_chr16_2677523_2714030	2710675	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0074 a0001c0001t0009g0074	1	414	0.0024	-20	c.33 others(31): Show c.3349_*3368delTGTGTGTGTGTGTGTGTGTG	KCTD5	ENSG00000167977.9	transcript	ENST00000301738.9	protein_coding		1646		chr16	TogoVar
KCTD8_chr4_44168903_44453809	44235525	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00621.hp1 others(51): Show HG00423.hp2 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01884.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG03041.hp2 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG04204.hp1 HG06807.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18965.hp1 NA18966.hp1 NA18985.hp1 NA18999.hp2 NA19004.hp1 NA19030.hp2 NA19043.hp2 NA19079.hp1 NA19083.hp2 NA19086.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0009 a0002c0003 others(2): Show a0001c0001 a0001c0009 a0002c0003 a0003c0005 a0005c0008	a0001c0001t0001 a0001c0001t0010 a0001c0009t0001 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0009t0001 a0002c0003t0001 a0003c0005t0001 a0005c0008t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(51): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0114 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0152 a0001c0001t0001g0174 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0001t0010g0294 a0001c0009t0001g0292 a0002c0003t0001g0284 a0002c0003t0001g0288 a0003c0005t0001g0007 a0005c0008t0001g0019	54	294	0.1837	-20	c.962 others(39): Show c.962-60295_962-60276delTATATATATATATATATATA	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KCTD8_chr4_44168903_44453809	44235562	TATATATA others(13): Show TATATATATATATATTTAGAG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03130.hp1 HG03516.hp2 HG02622.hp1 HG03130.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0269 a0001c0001t0004g0231 a0001c0001t0004g0271 a0001c0001t0001g0269 a0001c0001t0004g0231 a0001c0001t0004g0271	3	294	0.0102	-20	c.962 others(39): Show c.962-60332_962-60313delCTCTAAATATATATATATAT	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KDM1A_chr1_23014468_23088689	23017175	TTTTATAT others(13): Show TTTTATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG02040.hp2 HG02056.hp2 others(7): Show HG01433.hp1 HG02040.hp2 HG02056.hp2 HG02717.hp2 HG03239.hp1 HG03516.hp2 HG06807.hp1 NA18945.hp2 NA19000.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0128 a0001c0001t0001g0240 a0001c0001t0001g0251 others(7): Show a0001c0001t0001g0128 a0001c0001t0001g0240 a0001c0001t0001g0251 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0004t0001g0154	10	352	0.0284	-20	c.-24 others(31): Show c.-2421_-2402delTTTATATATATATATATATA	KDM1A	ENSG00000004487.18	transcript	ENST00000400181.9	protein_coding		2292		chr1	TogoVar
KDM1A_chr1_23014468_23088689	23017177	TTATATAT others(13): Show TTATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	1	352	0.0028	-20	c.-24 others(31): Show c.-2419_-2400delTATATATATATATATATATA	KDM1A	ENSG00000004487.18	transcript	ENST00000400181.9	protein_coding		2290		chr1	TogoVar
KDM2A_chr11_67114263_67263082	67152905	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0164 a0001c0001t0009g0164	1	220	0.0046	-20	c.43- others(37): Show c.43-27145_43-27126delGTGTGTGTGTGTGTGTGTGT	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67247055	ATATATAT others(13): Show ATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	220	0.0046	-20	c.196 others(37): Show c.1965+941_1965+960delATATATATATATATATTTTT	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67247069	ATATTTTT others(13): Show ATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	220	0.0046	-20	c.196 others(37): Show c.1965+955_1965+974delATTTTTTTTTTTTTTTTTTT	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2B_chr12_121424096_121586023	121457739	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02083.hp2 HG02135.hp1 others(7): Show HG00673.hp2 HG02083.hp2 HG02135.hp1 HG02155.hp2 HG03704.hp2 NA18964.hp1 NA18969.hp2 NA18990.hp1 NA19012.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0058 a0001c0001t0001g0140 a0001c0001t0001g0152 others(7): Show a0001c0001t0001g0058 a0001c0001t0001g0140 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0237 a0001c0006t0001g0126 a0001c0006t0001g0143 a0001c0006t0001g0157 a0001c0006t0001g0181 a0001c0006t0001g0182	10	270	0.0370	-20	c.173 others(39): Show c.1735-4415_1735-4396delGTGTGTGTGTGTGTGTGTGT	KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	12/22			chr12	TogoVar
KDM2B_chr12_121424096_121586023	121475182	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02559.hp1 others(8): Show HG01891.hp1 HG02055.hp1 HG02559.hp1 HG02572.hp1 HG02809.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0001c0003t0007	a0001c0001t0002g0085 a0001c0001t0004g0214 a0001c0001t0004g0230 others(8): Show a0001c0001t0002g0085 a0001c0001t0004g0214 a0001c0001t0004g0230 a0001c0003t0001g0084 a0001c0003t0001g0097 a0001c0003t0001g0101 a0001c0003t0001g0240 a0001c0003t0001g0241 a0001c0003t0001g0243 a0001c0003t0007g0267 a0001c0003t0007g0269	11	270	0.0407	-20	c.173 others(41): Show c.1734+19377_1734+19396delCACACACACACACACACACA	KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	12/22			chr12	TogoVar

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