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
ITPK1_chr14_92931914_93120925	93059663	CGGTCACG others(22): Show CGGTCACGAGGCAGGGGTGGAGGGGGTGCG	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02273.hp2 HG01978.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0089 a0001c0001t0001g0061 a0001c0001t0001g0089	2	231	0.0087	-29	c.120 others(48): Show c.120+16903_120+16931delCGCACCCCCTCCACCCCTGCCTCGTG ACC	ITPK1	ENSG00000100605.17	transcript	ENST00000267615.11	protein_coding	3/10			chr14	TogoVar
ITPK1_chr14_92931914_93120925	93059750	GGGTCACG others(22): Show GGGTCACGAGGCAGGGGTGGAGGGGGTGCT	G G	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	242	0.0041	-29	c.120 others(48): Show c.120+16816_120+16844delAGCACCCCCTCCACCCCTGCCTCGTG ACC	ITPK1	ENSG00000100605.17	transcript	ENST00000267615.11	protein_coding	3/10			chr14	TogoVar
ITPR2_chr12_26330352_26838194	26589796	AATAAATA others(22): Show AATAAATAAATAAAAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02970.hp2 HG03209.hp2 HG02559.hp1 HG02970.hp2 HG03209.hp2	a0002 a0010 a0002 a0010	a0002c0017 a0010c0068 a0002c0017 a0010c0068	a0002c0017t0018 a0010c0068t0004 a0002c0017t0018 a0010c0068t0004	a0002c0017t0018g0108 a0002c0017t0018g0109 a0010c0068t0004g0105 a0002c0017t0018g0108 a0002c0017t0018g0109 a0010c0068t0004g0105	3	140	0.0214	-29	c.438 others(48): Show c.4380+5640_4380+5668delATTTATTTATTTATTTTTTATTTATT TAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	32/56			chr12	TogoVar
ITPRID1_chr7_31509090_31661504	31599621	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG01069.hp1 others(26): Show HG00423.hp2 HG00558.hp1 HG01069.hp1 HG01071.hp1 HG01496.hp1 HG01515.hp1 HG01928.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02293.hp1 HG02486.hp1 HG02523.hp2 HG02683.hp1 HG03225.hp2 NA18960.hp1 NA18961.hp2 NA18978.hp1 NA18995.hp1 NA19011.hp1 NA19054.hp1 NA19070.hp1 NA19078.hp1 NA19079.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0022	a0001c0003 a0002c0001 a0003c0005 others(9): Show a0001c0003 a0002c0001 a0003c0005 a0003c0007 a0003c0008 a0004c0025 a0004c0027 a0004c0028 a0004c0044 a0005c0009 a0008c0013 a0022c0031	a0001c0003t0001 a0002c0001t0001 a0002c0001t0002 others(14): Show a0001c0003t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0007 a0003c0005t0001 a0003c0005t0003 a0003c0007t0003 a0003c0007t0027 a0003c0008t0003 a0004c0025t0003 a0004c0027t0003 a0004c0028t0003 a0004c0044t0003 a0005c0009t0004 a0008c0013t0008 a0022c0031t0003	a0001c0003t0001g0022 a0002c0001t0001g0205 a0002c0001t0002g0009 others(26): Show a0001c0003t0001g0022 a0002c0001t0001g0205 a0002c0001t0002g0009 a0002c0001t0002g0018 a0002c0001t0002g0030 a0002c0001t0002g0188 a0002c0001t0003g0195 a0002c0001t0003g0208 a0002c0001t0007g0028 a0003c0005t0001g0190 a0003c0005t0003g0175 a0003c0007t0003g0179 a0003c0007t0003g0182 a0003c0007t0003g0185 a0003c0007t0003g0211 a0003c0007t0003g0214 a0003c0007t0027g0183 a0003c0008t0003g0006 a0003c0008t0003g0148 a0003c0008t0003g0150 a0003c0008t0003g0151 a0004c0025t0003g0165 a0004c0027t0003g0020 a0004c0027t0003g0021 a0004c0028t0003g0057 a0004c0044t0003g0097 a0005c0009t0004g0047 a0008c0013t0008g0256 a0022c0031t0003g0181	29	238	0.1218	-29	c.122 others(50): Show c.1228+16431_1228+16459delTTTCTTTCTTTCTTTCTTTCTTTC TTTTT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14			chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31599635	TTCTTTCT others(22): Show TTCTTTCTTTCTTTTTCTTTCTTTCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01516.hp1 HG04204.hp1 others(4): Show HG01361.hp2 HG01516.hp1 HG04204.hp1 HG04228.hp1 NA18942.hp1 NA18982.hp1 NA19085.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0003c0005	a0001c0002t0002 a0001c0003t0002 a0002c0001t0003 others(2): Show a0001c0002t0002 a0001c0003t0002 a0002c0001t0003 a0002c0001t0010 a0003c0005t0003	a0001c0002t0002g0163 a0001c0003t0002g0050 a0002c0001t0003g0192 others(4): Show a0001c0002t0002g0163 a0001c0003t0002g0050 a0002c0001t0003g0192 a0002c0001t0003g0196 a0002c0001t0003g0210 a0002c0001t0010g0270 a0003c0005t0003g0194	7	308	0.0227	-29	c.122 others(50): Show c.1228+16448_1228+16476delTTCTTTCTTTTTCTTTCTTTCCTT TCTCT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
IYD_chr6_150364012_150410969	150367961	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02886.hp1 HG02818.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0079 a0002c0002t0020g0080 a0002c0002t0020g0079 a0002c0002t0020g0080	2	412	0.0049	-29	c.-10 others(40): Show c.-1070_-1042delTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding		1050		chr6	TogoVar
IZUMO4_chr19_2091915_2104590	2104470	ACCAATGC others(22): Show ACCAATGCCCAGACCCCAACACCAAGACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	450	0.0022	-29	c.51 others(40): Show c.5126_*5154delCCAATGCCCAGACCCCAACACCAAGACAC	IZUMO4	ENSG00000099840.14	transcript	ENST00000395301.8	protein_coding		4881		chr19	TogoVar
JAG2_chr14_105135995_105173776	105164479	AGTGTGCA others(22): Show AGTGTGCAGACAGGATCCCCTGAAGGTAGG	A A	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	362	0.0028	-29	c.417 others(46): Show c.417+3249_417+3277delCCTACCTTCAGGGGATCCTGTCTGCACA C	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25			chr14	TogoVar
JAKMIP2_chr5_147580438_147787728	147700047	TCAAAACC others(22): Show TCAAAACCTCTTTGGAGAAACACCCTTTTA	T T	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0217 a0001c0002t0008g0217	1	248	0.0040	-29	c.-14 others(50): Show c.-148-28122_-148-28094delTAAAAGGGTGTTTCTCCAAAGAGG TTTTG	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132157447	CATTTCTG others(22): Show CATTTCTGACGTCCCGACACACAAATGGAG	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0005 a0005	a0005c0050 a0005c0050	a0005c0050t0032 a0005c0050t0032	a0005c0050t0032g0116 a0005c0050t0032g0116	1	156	0.0064	-29	c.222 others(48): Show c.2220+3461_2220+3489delTCTGACGTCCCGACACACAAATGGAG ATT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132158643	AGATGCTG others(22): Show AGATGCTGTGGGAGGGGCATCTTCCTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0035 a0001c0032t0035	a0001c0032t0035g0125 a0001c0032t0035g0125	1	138	0.0072	-29	c.222 others(48): Show c.2221-4308_2221-4280delGTGTGATGCTGTGGGAGGGGCATCTT CCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160295	GGTCTATT others(22): Show GGTCTATTCCTGTGTCTTATTGAGGGGGCC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0003 a0003c0018t0003	a0003c0018t0003g0015 a0003c0018t0003g0015	1	101	0.0099	-29	c.222 others(48): Show c.2221-2913_2221-2885delGTCTATTCCTGTGTCTTATTGAGGGG GCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160652	TGGTGGGG others(22): Show TGGTGGGGGTCTACTTCTATGTCTTACTGG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01175.hp1 others(3): Show HG00280.hp1 HG00642.hp1 HG01175.hp1 HG01255.hp2 HG01346.hp1 HG03492.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0002c0008 others(1): Show a0001c0001 a0002c0004 a0002c0008 a0004c0007	a0001c0001t0004 a0002c0004t0004 a0002c0008t0004 others(1): Show a0001c0001t0004 a0002c0004t0004 a0002c0008t0004 a0004c0007t0004	a0001c0001t0004g0128 a0002c0004t0004g0038 a0002c0004t0004g0040 others(3): Show a0001c0001t0004g0128 a0002c0004t0004g0038 a0002c0004t0004g0040 a0002c0004t0004g0142 a0002c0008t0004g0129 a0004c0007t0004g0092	6	149	0.0403	-29	c.222 others(48): Show c.2221-2554_2221-2526delTGGGGGTCTACTTCTATGTCTTACTG GGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63337584	AAAAGAAA others(22): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03098.hp1 NA18966.hp1 HG02622.hp1 HG03098.hp1 NA18966.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0001c0008 a0002c0002	a0001c0008t0001 a0002c0002t0001 a0001c0008t0001 a0002c0002t0001	a0001c0008t0001g0302 a0001c0008t0001g0303 a0002c0002t0001g0250 a0001c0008t0001g0302 a0001c0008t0001g0303 a0002c0002t0001g0250	3	306	0.0098	-29	c.333 others(48): Show c.333+42705_333+42733delCTTTTCTTTTCTTTTCTTTTCTTTTC TTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMY_chr5_79231131_79332211	79270365	GTATATTT others(22): Show GTATATTTACATAAATATTTACATAAAATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp1 HG02896.hp1 others(2): Show HG02559.hp2 HG02615.hp1 HG02896.hp1 NA19043.hp2 NA20300.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0002c0006 a0006c0009 a0002c0002 a0002c0006 a0006c0009	a0002c0002t0044 a0002c0006t0007 a0006c0009t0007 a0002c0002t0044 a0002c0006t0007 a0006c0009t0007	a0002c0002t0044g0046 a0002c0006t0007g0015 a0006c0009t0007g0007 others(2): Show a0002c0002t0044g0046 a0002c0006t0007g0015 a0006c0009t0007g0007 a0006c0009t0007g0008 a0006c0009t0007g0009	5	320	0.0156	-29	c.103 others(48): Show c.1033-7524_1033-7496delCATAAAATATATATTTACATAAATAT TTA	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79270591	TTAAAATG others(22): Show TTAAAATGTATATTTACATAAATGTTTATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02155.hp2 NA18747.hp2 others(1): Show HG00558.hp1 HG02155.hp2 NA18747.hp2 NA19072.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0020 a0003c0004t0004g0024 a0003c0004t0004g0035 others(1): Show a0003c0004t0004g0020 a0003c0004t0004g0024 a0003c0004t0004g0035 a0003c0004t0004g0037	4	206	0.0194	-29	c.103 others(48): Show c.1033-7312_1033-7284delGTATATTTACATAAATGTTTATATAA AAT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JOSD2_chr19_50500998_50516191	50513457	GGGGGACA others(22): Show GGGGGACAGAGACCCAGAGAGAGAGGAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02647.hp1 HG02055.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0170 a0001c0001t0001g0141 a0001c0001t0001g0170	2	373	0.0054	-29	c.-23 others(40): Show c.-2387_-2359delACCTCCTCTCTCTCTGGGTCTCTGTCCCC	JOSD2	ENSG00000161677.12	transcript	ENST00000598418.6	protein_coding		2267		chr19	TogoVar
KANK3_chr19_8317584_8348262	8332830	ATAAAATA others(22): Show ATAAAATAAAATAAAATAAAATAATAAAAT	A A	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	404	0.0025	-29	c.193 others(46): Show c.1936+155_1936+183delATTTTATTATTTTATTTTATTTTATTTT A	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	7/10			chr19	TogoVar
KANTR_chrX_53089142_53132438	53102280	TTTCACTA others(22): Show TTTCACTAGTGCCACTTTTCTTTTCAAGGA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0057 a0001c0001t0024g0057	1	247	0.0040	-29	c.-80 others(48): Show c.-805+2677_-805+2705delCTAGTGCCACTTTTCTTTTCAAGGAT TCA	KANTR	ENSG00000232593.8	transcript	ENST00000604062.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
KASH5_chr19_49383249_49422990	49386777	GGAGGGGA others(22): Show GGAGGGGAAGGGAGGGGGAAGGGAGGGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02630.hp2 others(5): Show HG02109.hp2 HG02257.hp1 HG02630.hp2 HG02647.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp1 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0155 a0001c0005t0006g0158 a0001c0005t0006g0160 others(5): Show a0001c0005t0006g0155 a0001c0005t0006g0158 a0001c0005t0006g0160 a0001c0005t0006g0161 a0001c0005t0006g0162 a0001c0005t0006g0164 a0001c0005t0006g0165 a0001c0005t0006g0166	8	352	0.0227	-29	c.-16 others(40): Show c.-1645_-1617delGAGGGGAAGGGAGGGGGAAGGGAGGGGAA	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding		1471		chr19	TogoVar
KASH5_chr19_49383249_49422990	49414674	CCCCCCAG others(22): Show CCCCCCAGGCCCGTCCGTGCTGCCTGGCCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00733.hp1 HG01069.hp1 others(43): Show HG00597.hp1 HG00733.hp1 HG01069.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp2 HG01433.hp1 HG01496.hp1 HG02004.hp1 HG02015.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02818.hp2 HG02922.hp2 HG03098.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG04199.hp1 HG04228.hp2 NA18906.hp1 NA18939.hp2 NA18954.hp1 NA18954.hp2 NA18973.hp2 NA18977.hp1 NA18983.hp2 NA18986.hp1 NA19000.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19077.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0004 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0002c0002t0001 a0002c0003t0004 a0002c0004t0001 a0002c0004t0005 a0002c0007t0005	a0001c0001t0001g0138 a0001c0001t0002g0003 a0001c0001t0002g0212 others(37): Show a0001c0001t0001g0138 a0001c0001t0002g0003 a0001c0001t0002g0212 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0227 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0277 a0001c0001t0002g0305 a0001c0001t0007g0154 a0001c0001t0009g0003 a0001c0001t0009g0309 a0002c0002t0001g0010 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0072 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0110 a0002c0002t0001g0118 a0002c0003t0004g0144 a0002c0004t0001g0064 a0002c0004t0001g0130 a0002c0004t0005g0013 a0002c0004t0005g0014 a0002c0004t0005g0062 a0002c0004t0005g0067 a0002c0007t0005g0310 a0002c0007t0005g0311	46	191	0.2408	-29	c.132 others(46): Show c.1329-131_1329-103delCCCCCAGGCCCGTCCGTGCTGCCTGGCC T	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding	16/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
KASH5_chr19_49383249_49422990	49414821	CCCCAGGC others(22): Show CCCCAGGCCCGTCCGTGCTGCCTGGCCTGT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	352	0.0028	-29	c.132 others(46): Show c.1329-129_1329-101delCCCAGGCCCGTCCGTGCTGCCTGGCCTG T	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding	16/19			chr19	TogoVar
KAT2B_chr3_20035446_20159404	20106987	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0025	1	325	0.0031	-29	c.852 others(46): Show c.852-4607_852-4579delATATATATATATATATATATATATATAT T	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106989	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG01074.hp2 others(9): Show HG00280.hp2 HG00735.hp1 HG01074.hp2 HG01099.hp2 HG01255.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp2 HG01993.hp1 HG02602.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0001c0007 a0005c0014 a0001c0004 a0001c0007 a0005c0014	a0001c0004t0001 a0001c0004t0004 a0001c0004t0007 others(2): Show a0001c0004t0001 a0001c0004t0004 a0001c0004t0007 a0001c0007t0007 a0005c0014t0001	a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0004t0001g0168 others(9): Show a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0004t0001g0168 a0001c0004t0001g0174 a0001c0004t0001g0189 a0001c0004t0001g0248 a0001c0004t0004g0233 a0001c0004t0004g0234 a0001c0004t0007g0175 a0001c0007t0007g0330 a0001c0007t0007g0331 a0005c0014t0001g0045	12	297	0.0404	-29	c.852 others(46): Show c.852-4605_852-4577delATATATATATATATATATATATATATTT T	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106991	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01123.hp2 others(3): Show HG00099.hp2 HG00733.hp1 HG01123.hp2 HG02300.hp1 HG03710.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0004t0007 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0007 a0001c0004t0010	a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0004t0001g0202 others(3): Show a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0004t0001g0202 a0001c0004t0007g0254 a0001c0004t0007g0255 a0001c0004t0010g0167	6	344	0.0174	-29	c.852 others(46): Show c.852-4603_852-4575delATATATATATATATATATATATATTTTT T	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106995	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0228 a0001c0002t0001g0228	1	368	0.0027	-29	c.852 others(46): Show c.852-4599_852-4571delATATATATATATATATATATTTTTTTTT T	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT6B_chr10_74821600_75037624	74958154	TGTTGTCC others(22): Show TGTTGTCCCAAGGAACTAAGGCATTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	234	0.0043	-29	c.622 others(46): Show c.622-1814_622-1786delTTGTCCCAAGGAACTAAGGCATTTGTTG G	KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
KAZN_chr1_14593685_15123043	14681637	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0016 a0001c0001t0027g0016	1	141	0.0071	-29	c.226 others(48): Show c.226+82416_226+82444delATATATATATATATATATATTTTTTT TTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681649	ATATATAT others(22): Show ATATATATATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	135	0.0074	-29	c.226 others(48): Show c.226+82428_226+82456delATATATATTTTTTTTTTTTTTTTTTT TTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918696	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	144	0.0069	-29	c.227 others(48): Show c.227-41986_227-41958delAAAAAAAAAAATATATATATATATAT ATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD11_chr8_1968677_2011936	2009701	ATGCACTC others(22): Show ATGCACTCAGCCCCACCTCAGGGTATCAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0222 a0001c0001t0039g0222	1	388	0.0026	-29	c.66 others(40): Show c.6638_*6666delTGCACTCAGCCCCACCTCAGGGTATCAGC	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		2766		chr8	TogoVar
KBTBD2_chr7_32863172_32896760	32891845	CTTGTCAG others(22): Show CTTGTCAGTCCGGGGCCGCGAGACGCCGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	432	0.0023	-29	c.-67 others(38): Show c.-677_-649delCCCGGCGTCTCGCGGCCCCGGACTGACAA	KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding		86		chr7	TogoVar
KCMF1_chr2_84966161_85064472	85008321	CATATATA others(22): Show CATATATAATATATAATATGATATATAATA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02976.hp1 HG02055.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0067 a0001c0001t0059 a0001c0001t0067	a0001c0001t0059g0193 a0001c0001t0067g0192 a0001c0001t0059g0193 a0001c0001t0067g0192	2	266	0.0075	-29	c.17- others(46): Show c.17-19567_17-19539delATATATAATATATAATATGATATATAAT A	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6			chr2	TogoVar
KCNB2_chr8_72532225_72943349	72597001	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	36	0.0278	-29	c.579 others(48): Show c.579+28701_579+28729delTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNE1_chr21_34441690_34517210	34445674	CTCTGTCT others(22): Show CTCTGTCTAGATGGTGCCGACATACCCTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01106.hp1 HG01106.hp2 others(10): Show HG00140.hp1 HG01106.hp1 HG01106.hp2 HG01433.hp1 HG02300.hp1 HG02300.hp2 HG02717.hp1 HG02717.hp2 HG03704.hp1 HG03704.hp2 HG04228.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0007g0018	13	16	0.8125	-29	c.35 others(40): Show c.3542_*3570delTCAGGGTATGTCGGCACCATCTAGACAGA	KCNE1	ENSG00000180509.13	transcript	ENST00000399286.3	protein_coding		1015		chr21	TogoVar
KCNE2_chr21_34359006_34376381	34368238	ATATATAT others(22): Show ATATATATATATATATATATATATGTATGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0061 a0001c0001t0010g0061	1	432	0.0023	-29	c.-12 others(46): Show c.-12-2219_-12-2191delATATATATATATATGTATGTTATATATA T	KCNE2	ENSG00000159197.4	transcript	ENST00000290310.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr21	TogoVar
KCNE2_chr21_34359006_34376381	34368248	ATATATAT others(22): Show ATATATATATATATGTATGTTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	432	0.0023	-29	c.-12 others(46): Show c.-12-2215_-12-2187delATATATATATGTATGTTATATATATGTA T	KCNE2	ENSG00000159197.4	transcript	ENST00000290310.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr21	TogoVar
KCNG2_chr18_79792938_79905100	79849896	GCGAGACC others(22): Show GCGAGACCCCACCTGGCCGTGGGAGGAACC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA21309.hp2 HG02258.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0132 a0001c0001t0002g0199 a0001c0001t0001g0132 a0001c0001t0002g0199	2	310	0.0065	-29	c.-11 others(48): Show c.-114-6470_-114-6442delTGGCCGTGGGAGGAACCCGAGACCCC ACC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNH2_chr7_150939961_150983321	150978919	CACACACA others(22): Show CACACACACACATACACACACACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	356	0.0028	-29	c.-10 others(40): Show c.-1035_-1007delTGTGTGTGTGTGTGTGTATGTGTGTGTGT	KCNH2	ENSG00000055118.17	transcript	ENST00000262186.10	protein_coding		599		chr7	TogoVar
KCNIP4_chr4_20723606_21953772	21400523	CTCTTCTC others(22): Show CTCTTCTCTTCTCTTCTCTTCTCTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp2 HG02145.hp2 others(7): Show HG01106.hp1 HG01123.hp2 HG02145.hp2 HG02300.hp2 HG02622.hp2 HG02647.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008	a0001c0001t0001g0017 a0001c0001t0002g0035 a0001c0001t0002g0036 others(7): Show a0001c0001t0001g0017 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0076 a0001c0001t0003g0018 a0001c0001t0010g0033 a0001c0002t0004g0048 a0001c0002t0004g0071 a0001c0002t0006g0050 a0001c0002t0008g0010	10	77	0.1299	-29	c.62- others(48): Show c.62-517843_62-517815delAAGAGAAGAGAAGAGAAGAGAAGAGA AGA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528778	AGGAAGAA others(22): Show AGGAAGAAAGGAAGAAAGGAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	80	0.0125	-29	c.61+ others(48): Show c.61+419764_61+419792delCTTCCTTTCTTCCTTTCTTCCTTTCT TCC	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ4_chr22_38421327_38460199	38452364	GACTTTCT others(22): Show GACTTTCTGCCCTGGTCCTGGGATCTCCCC	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	378	0.0026	-29	c.-40 others(46): Show c.-40+2587_-40+2615delGGGGAGATCCCAGGACCAGGGCAGAAAG T	KCNJ4	ENSG00000168135.4	transcript	ENST00000303592.3	protein_coding	1/1			chr22	TogoVar
KCNJ6_chr21_37602373_37921457	37667614	GGGGTAGC others(22): Show GGGGTAGCAGGCACCGGGGTAGCAGGTCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(35): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01433.hp2 HG01891.hp2 HG01975.hp1 HG01978.hp2 HG02071.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02300.hp2 HG02559.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03654.hp1 HG04115.hp2 HG04199.hp1 NA18950.hp2 NA18971.hp2 NA19060.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0021 a0001c0001t0047 a0001c0001t0063 others(32): Show a0001c0001t0021 a0001c0001t0047 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0073 a0001c0001t0112 a0001c0001t0170 a0001c0001t0186 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0013 a0001c0002t0019 a0001c0002t0143 a0001c0002t0146 a0001c0002t0147 a0001c0002t0148 a0001c0002t0149 a0001c0002t0150 a0001c0002t0151 a0001c0002t0152 a0001c0002t0153 a0001c0002t0154 a0001c0002t0157 a0001c0002t0158 a0001c0002t0159 a0001c0002t0187 a0001c0004t0007 a0001c0004t0018 a0001c0004t0156 a0001c0006t0080	a0001c0001t0021g0032 a0001c0001t0047g0113 a0001c0001t0063g0172 others(35): Show a0001c0001t0021g0032 a0001c0001t0047g0113 a0001c0001t0063g0172 a0001c0001t0064g0101 a0001c0001t0065g0126 a0001c0001t0066g0149 a0001c0001t0068g0098 a0001c0001t0073g0010 a0001c0001t0112g0074 a0001c0001t0170g0095 a0001c0001t0186g0196 a0001c0002t0004g0011 a0001c0002t0004g0012 a0001c0002t0005g0127 a0001c0002t0005g0155 a0001c0002t0006g0053 a0001c0002t0006g0091 a0001c0002t0007g0040 a0001c0002t0013g0003 a0001c0002t0019g0022 a0001c0002t0143g0009 a0001c0002t0146g0176 a0001c0002t0147g0094 a0001c0002t0148g0192 a0001c0002t0149g0189 a0001c0002t0150g0184 a0001c0002t0151g0066 a0001c0002t0152g0004 a0001c0002t0153g0096 a0001c0002t0154g0188 a0001c0002t0157g0089 a0001c0002t0158g0043 a0001c0002t0159g0052 a0001c0002t0187g0197 a0001c0004t0007g0115 a0001c0004t0018g0186 a0001c0004t0156g0190 a0001c0006t0080g0034	38	196	0.1939	-29	c.947 others(48): Show c.947-42159_947-42131delTGGACCTGCTACCCCGGTGCCTGCTA CCC	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNK13_chr14_90056994_90190853	90158058	ACTCCTGC others(22): Show ACTCCTGCTGGTGGTGCTTGGTCCCATGCC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	318	0.0031	-29	c.335 others(48): Show c.335-26050_335-26022delCCTGCTGGTGGTGCTTGGTCCCATGC CCT	KCNK13	ENSG00000152315.5	transcript	ENST00000282146.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
KCNN1_chr19_17962107_18005085	17970289	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	2	0.5000	-29	c.-82 others(46): Show c.-82+2989_-82+3017delTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	KCNN1	ENSG00000105642.16	transcript	ENST00000684775.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
KCNN2_chr5_114357070_114501496	114379637	GTAGAATA others(22): Show GTAGAATATATTATATAACATATATATTTA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02886.hp2 HG02895.hp1 others(1): Show HG02572.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1	a0002 a0007 a0008 a0002 a0007 a0008	a0002c0014 a0007c0010 a0008c0013 a0002c0014 a0007c0010 a0008c0013	a0002c0014t0001 a0007c0010t0001 a0008c0013t0001 a0002c0014t0001 a0007c0010t0001 a0008c0013t0001	a0002c0014t0001g0017 a0007c0010t0001g0191 a0007c0010t0001g0192 others(1): Show a0002c0014t0001g0017 a0007c0010t0001g0191 a0007c0010t0001g0192 a0008c0013t0001g0237	4	247	0.0162	-29	c.121 others(50): Show c.1218+15659_1218+15687delATATTTATAGAATATATTATATAA CATAT	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNQ1_chr11_2440008_2854105	2560238	TGGGGGGG others(22): Show TGGGGGGGTGACGTCCATCCTGGGGGAGTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01070.hp2 HG01071.hp2 others(13): Show HG00408.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG02280.hp1 HG02602.hp2 HG02717.hp1 HG03017.hp1 HG03041.hp2 HG03239.hp1 HG03540.hp2 HG03704.hp2 NA18522.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0003c0006t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0154 others(13): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0167 a0001c0001t0002g0079 a0001c0001t0002g0088 a0001c0001t0003g0151 a0001c0001t0003g0180 a0001c0001t0005g0202 a0001c0001t0006g0187 a0001c0001t0008g0107 a0001c0002t0001g0097 a0001c0002t0002g0013 a0001c0003t0001g0081 a0003c0006t0001g0008	16	177	0.0904	-29	c.478 others(48): Show c.478-10385_478-10357delGGGTGACGTCCATCCTGGGGGAGTGG GGG	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2560243	GGGTGACG others(22): Show GGGTGACGTCCATCCTGGGGGAGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00642.hp2 others(18): Show HG00323.hp1 HG00639.hp2 HG00642.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01433.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02083.hp2 HG02622.hp2 HG03017.hp2 HG03098.hp2 HG03516.hp1 NA18947.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0008c0012t0002	a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0033 others(18): Show a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0095 a0001c0001t0001g0106 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0175 a0001c0001t0002g0007 a0001c0001t0002g0056 a0001c0001t0002g0104 a0001c0001t0002g0178 a0001c0001t0003g0052 a0001c0001t0003g0080 a0001c0001t0005g0198 a0001c0001t0007g0018 a0001c0001t0007g0159 a0008c0012t0002g0173	21	206	0.1019	-29	c.478 others(48): Show c.478-10339_478-10311delGGGGAGTGGGGGCGGTGACGTCCATC CTG	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNRG_chr13_50010444_50025922	50015085	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18995.hp2 NA18612.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0011 a0001c0001t0001g0016	2	442	0.0045	-29	c.-40 others(38): Show c.-408_-380delAAAAAAAAAATATATATATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		358		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015087	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	431	0.0023	-29	c.-40 others(38): Show c.-406_-378delAAAAAAAATATATATATATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		356		chr13	TogoVar

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