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
KAT6B_chr10_74821600_75037624	74990196	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0003	a0005c0007t0003g0204 a0005c0007t0003g0204	1	236	0.0042	-20	c.262 others(39): Show c.2629+1098_2629+1117delAAAAAAAAAAAAAAAAAAAA	KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
KATNAL1_chr13_30197630_30312551	30205925	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0131 a0001c0001t0131	a0001c0001t0131g0119 a0001c0001t0131g0119	1	386	0.0026	-20	c.25 others(31): Show c.2595_*2614delACACACACACACACACACAC	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	11/11	2595		chr13	TogoVar
KATNB1_chr16_57730770_57762244	57746351	TCTCTCTC others(13): Show TCTCTCTCTCTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG00323.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0196 a0001c0002t0001g0197	2	402	0.0050	-20	c.289 others(37): Show c.289+1853_289+1872delTTTCTTTCCTCTCTCTCTCT	KATNB1	ENSG00000140854.13	transcript	ENST00000379661.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNB1_chr16_57730770_57762244	57749717	TGCCTCCA others(13): Show TGCCTCCAGGCTGGGCCGCTC	T T	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	402	0.0025	-20	c.290 others(37): Show c.290-1109_290-1090delGCCTCCAGGCTGGGCCGCTC	KATNB1	ENSG00000140854.13	transcript	ENST00000379661.8	protein_coding	4/19			chr16	TogoVar
KATNIP_chr16_27545144_27785344	27585263	TCAAAAGA others(13): Show TCAAAAGACAGGCAAAAACAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02615.hp2 others(5): Show HG02055.hp2 HG02451.hp1 HG02615.hp2 HG02886.hp2 HG03209.hp2 HG03516.hp2 HG03540.hp1 NA20129.hp1	a0004 a0008 a0004 a0008	a0004c0007 a0008c0016 a0008c0031 a0004c0007 a0008c0016 a0008c0031	a0004c0007t0001 a0004c0007t0010 a0004c0007t0012 others(2): Show a0004c0007t0001 a0004c0007t0010 a0004c0007t0012 a0008c0016t0001 a0008c0031t0001	a0004c0007t0001g0074 a0004c0007t0001g0075 a0004c0007t0001g0105 others(5): Show a0004c0007t0001g0074 a0004c0007t0001g0075 a0004c0007t0001g0105 a0004c0007t0010g0108 a0004c0007t0012g0106 a0008c0016t0001g0076 a0008c0016t0001g0077 a0008c0031t0001g0107	8	152	0.0526	-20	c.63+ others(37): Show c.63+11308_63+11327delCAAAAGACAGGCAAAAACAA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	2/27			chr16	TogoVar
KATNIP_chr16_27545144_27785344	27655177	GATATATA others(13): Show GATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02109.hp2 HG02280.hp2 others(1): Show HG02056.hp1 HG02109.hp2 HG02280.hp2 HG02486.hp2	a0001 a0005 a0014 a0001 a0005 a0014	a0001c0001 a0001c0028 a0005c0006 others(1): Show a0001c0001 a0001c0028 a0005c0006 a0014c0019	a0001c0001t0002 a0001c0028t0004 a0005c0006t0001 others(1): Show a0001c0001t0002 a0001c0028t0004 a0005c0006t0001 a0014c0019t0003	a0001c0001t0002g0071 a0001c0028t0004g0109 a0005c0006t0001g0013 others(1): Show a0001c0001t0002g0071 a0001c0028t0004g0109 a0005c0006t0001g0013 a0014c0019t0003g0100	4	152	0.0263	-20	c.540 others(37): Show c.540+6475_540+6494delATATATATATATATATATAT	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27713802	GTATATAC others(13): Show GTATATACATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01361.hp1 HG01515.hp1 others(5): Show HG01258.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp1 HG01978.hp2 HG02273.hp2 HG02683.hp1 HG02738.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0094 a0003c0003t0002g0121 a0003c0003t0002g0125 others(5): Show a0003c0003t0002g0094 a0003c0003t0002g0121 a0003c0003t0002g0125 a0003c0003t0002g0126 a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 a0003c0003t0002g0140	8	152	0.0526	-20	c.160 others(39): Show c.1605+4889_1605+4908delCATATATATATATATATATA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KAZN_chr1_14593685_15123043	14681641	ATATATAT others(13): Show ATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	146	0.0069	-20	c.226 others(39): Show c.226+82420_226+82439delATATATATATATATATTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681649	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	146	0.0069	-20	c.226 others(39): Show c.226+82428_226+82447delATATATATTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681653	ATATATTT others(13): Show ATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0026 a0008c0011t0026	a0008c0011t0026g0132 a0008c0011t0026g0132	1	146	0.0069	-20	c.226 others(39): Show c.226+82432_226+82451delATATTTTTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681655	ATATTTTT others(13): Show ATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0049 a0001c0001t0031g0049	1	146	0.0069	-20	c.226 others(39): Show c.226+82434_226+82453delATTTTTTTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14754401	GGCAGGTG others(13): Show GGCAGGTGGATCCCCTGAGGT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0033 a0001c0001t0009g0033	1	146	0.0069	-20	c.226 others(41): Show c.226+155179_226+155198delGCAGGTGGATCCCCTGAGGT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14			chr1	TogoVar
KAZN_chr1_14593685_15123043	14896041	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18906.hp2 HG03471.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0130 a0002c0002t0001g0041 a0001c0001t0002g0130 a0002c0002t0001g0041	2	146	0.0137	-20	c.227 others(39): Show c.227-64631_227-64612delTTTTTTTTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918695	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0087 a0001c0001t0007g0087	1	146	0.0069	-20	c.227 others(39): Show c.227-41987_227-41968delAAAAAAAAAAAATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918697	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03834.hp1 NA18970.hp1 HG02083.hp1 HG03834.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0012 a0002c0002t0001 a0002c0002t0012	a0002c0002t0001g0083 a0002c0002t0001g0108 a0002c0002t0012g0098 a0002c0002t0001g0083 a0002c0002t0001g0108 a0002c0002t0012g0098	3	146	0.0206	-20	c.227 others(39): Show c.227-41985_227-41966delAAAAAAAAAATATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918699	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	146	0.0069	-20	c.227 others(39): Show c.227-41983_227-41964delAAAAAAAATATATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918705	AAAATATA others(13): Show AAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0128 a0002c0002t0001g0128	1	146	0.0069	-20	c.227 others(39): Show c.227-41977_227-41958delAATATATATATATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14943032	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03540.hp2 HG02615.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0009 a0002c0002t0001g0133 a0001c0001t0004g0009 a0002c0002t0001g0133	2	146	0.0137	-20	c.227 others(39): Show c.227-17651_227-17632delTGTGTGTGTGTGTGTGTGTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14			chr1	TogoVar
KAZN_chr1_14593685_15123043	14997201	TTTCATTT others(13): Show TTTCATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00735.hp1 others(28): Show HG00323.hp2 HG00642.hp2 HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01258.hp2 HG01516.hp1 HG02040.hp1 HG02083.hp2 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02886.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp2 HG03540.hp1 HG06807.hp2 NA19005.hp1 NA19005.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0001c0008 others(3): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0004c0009 a0005c0016	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0001t0031 a0001c0003t0004 a0001c0008t0009 a0002c0002t0001 a0004c0009t0001 a0005c0016t0002	a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0002g0046 others(28): Show a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0002g0046 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0145 a0001c0001t0003g0005 a0001c0001t0003g0088 a0001c0001t0003g0135 a0001c0001t0007g0021 a0001c0001t0008g0030 a0001c0001t0010g0131 a0001c0001t0011g0118 a0001c0001t0019g0029 a0001c0001t0031g0049 a0001c0003t0004g0125 a0001c0008t0009g0120 a0002c0002t0001g0013 a0002c0002t0001g0028 a0002c0002t0001g0047 a0002c0002t0001g0071 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0001g0143 a0004c0009t0001g0034 a0005c0016t0002g0022	31	146	0.2123	-20	c.418 others(39): Show c.418+36329_418+36348delCATTTATTTATTTATTTATT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15031553	GTGTGTTG others(13): Show GTGTGTTGTGTTGTGTTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp2 HG02717.hp1 others(5): Show HG02257.hp2 HG02615.hp2 HG02717.hp1 HG02886.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0019 a0002c0002t0001	a0001c0001t0002g0007 a0001c0001t0004g0044 a0001c0001t0004g0063 others(5): Show a0001c0001t0002g0007 a0001c0001t0004g0044 a0001c0001t0004g0063 a0001c0001t0005g0014 a0001c0001t0019g0029 a0002c0002t0001g0013 a0002c0002t0001g0047 a0002c0002t0001g0084	8	146	0.0548	-20	c.419 others(37): Show c.419-3168_419-3149delTGTTGTGTTGTGTTGTGTTG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15050159	GGAATAGA others(13): Show GGAATAGAATAGAATAGAATA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0021 a0001c0013t0021	a0001c0013t0021g0051 a0001c0013t0021g0051	1	146	0.0069	-20	c.727 others(37): Show c.727-5888_727-5869delTAGAATAGAATAGAATAGAA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1993412	TCCATCCA others(13): Show TCCATCCATCCACCCACCCAC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01496.hp1 HG02257.hp2 others(8): Show HG01123.hp1 HG01496.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG03130.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 NA19030.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0006 a0001c0001t0012 a0001c0001t0025 others(4): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0025 a0001c0001t0030 a0001c0001t0052 a0001c0001t0058 a0006c0011t0043	a0001c0001t0006g0059 a0001c0001t0006g0121 a0001c0001t0012g0335 others(8): Show a0001c0001t0006g0059 a0001c0001t0006g0121 a0001c0001t0012g0335 a0001c0001t0012g0343 a0001c0001t0012g0345 a0001c0001t0012g0346 a0001c0001t0025g0310 a0001c0001t0030g0322 a0001c0001t0052g0147 a0001c0001t0058g0056 a0006c0011t0043g0122	11	389	0.0283	-20	c.-90 others(39): Show c.-908-6861_-908-6842delCCCACCCACCCATCCATCCA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1993512	TCCATCCA others(13): Show TCCATCCACCCATCCATCCAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp1 others(168): Show HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02965.hp2 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0003 a0003c0010 others(1): Show a0001c0001 a0001c0003 a0003c0010 a0008c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0046 a0001c0001t0047 a0001c0001t0053 a0001c0001t0056 a0001c0001t0059 a0001c0001t0066 a0001c0001t0073 a0001c0003t0001 a0003c0010t0007 a0008c0004t0001	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0020 others(162): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0331 a0001c0001t0001g0344 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0003g0022 a0001c0001t0003g0026 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0201 a0001c0001t0003g0242 a0001c0001t0003g0254 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0348 a0001c0001t0005g0001 a0001c0001t0005g0005 a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0194 a0001c0001t0005g0265 a0001c0001t0005g0266 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0351 a0001c0001t0005g0352 a0001c0001t0006g0051 a0001c0001t0006g0059 a0001c0001t0007g0186 a0001c0001t0007g0189 a0001c0001t0007g0227 a0001c0001t0007g0252 a0001c0001t0008g0145 a0001c0001t0008g0340 a0001c0001t0008g0347 a0001c0001t0010g0008 a0001c0001t0010g0157 a0001c0001t0010g0205 a0001c0001t0010g0210 a0001c0001t0010g0259 a0001c0001t0014g0116 a0001c0001t0014g0117 a0001c0001t0014g0118 a0001c0001t0014g0119 a0001c0001t0017g0049 a0001c0001t0017g0078 a0001c0001t0017g0123 a0001c0001t0020g0009 a0001c0001t0021g0015 a0001c0001t0024g0001 a0001c0001t0025g0310 a0001c0001t0026g0128 a0001c0001t0026g0129 a0001c0001t0027g0069 a0001c0001t0027g0070 a0001c0001t0029g0329 a0001c0001t0030g0322 a0001c0001t0035g0342 a0001c0001t0036g0235 a0001c0001t0037g0162 a0001c0001t0039g0232 a0001c0001t0041g0330 a0001c0001t0046g0138 a0001c0001t0047g0214 a0001c0001t0053g0172 a0001c0001t0056g0364 a0001c0001t0059g0040 a0001c0001t0066g0062 a0001c0001t0073g0005 a0001c0003t0001g0188 a0001c0003t0001g0231 a0003c0010t0007g0161 a0008c0004t0001g0135	171	389	0.4396	-20	c.-90 others(39): Show c.-908-6769_-908-6750delTCCACCCATCCATCCACCCA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD12_chr3_127910232_127992666	127939397	ACTGAAAA others(13): Show ACTGAAAATACCAGGGAGATC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0007 a0003c0002t0007	a0003c0002t0007g0071 a0003c0002t0007g0071	1	402	0.0025	-20	c.149 others(39): Show c.1492+9115_1492+9134delCTGAAAATACCAGGGAGATC	KBTBD12	ENSG00000187715.13	transcript	ENST00000405109.5	protein_coding	4/5			chr3	TogoVar
KBTBD4_chr11_47567197_47583970	47579984	GACACACA others(13): Show GACACACACACACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02109.hp2 HG02572.hp2 others(1): Show HG01255.hp2 HG02109.hp2 HG02572.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0049 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050	4	414	0.0097	-20	c.-10 others(31): Show c.-1053_-1034delGTGTGTGTGTGTGTGTGTGT	KBTBD4	ENSG00000123444.14	transcript	ENST00000430070.7	protein_coding		1015		chr11	TogoVar
KCMF1_chr2_84966161_85064472	84971268	GCGCCGCC others(13): Show GCGCCGCCTCCCCGCCGCCGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0067 a0001c0001t0026g0067	1	274	0.0037	-20	c.-17 others(29): Show c.-176_-157delTCCCCGCCGCCGCCGCCGCC	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/7	157	INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	84974675	ATATATAT others(13): Show ATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp2 HG03041.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0054 a0001c0001t0021 a0001c0001t0054	a0001c0001t0021g0268 a0001c0001t0054g0269 a0001c0001t0021g0268 a0001c0001t0054g0269	2	274	0.0073	-20	c.16+ others(35): Show c.16+3210_16+3229delATATATATATATATATTTTT	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	84974677	ATATATAT others(13): Show ATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02895.hp1 HG06807.hp1 HG02055.hp1 HG02895.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0061 a0001c0001t0010 a0001c0001t0061	a0001c0001t0010g0262 a0001c0001t0010g0263 a0001c0001t0061g0194 a0001c0001t0010g0262 a0001c0001t0010g0263 a0001c0001t0061g0194	3	274	0.0110	-20	c.16+ others(35): Show c.16+3212_16+3231delATATATATATATATTTTTTT	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	84974679	ATATATAT others(13): Show ATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0259 a0001c0001t0010g0259	1	274	0.0037	-20	c.16+ others(35): Show c.16+3214_16+3233delATATATATATATTTTTTTTT	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	84982389	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03195.hp1 HG03225.hp1 others(1): Show HG02257.hp2 HG03195.hp1 HG03225.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0111 a0001c0001t0002g0118 a0001c0001t0002g0130 others(1): Show a0001c0001t0002g0111 a0001c0001t0002g0118 a0001c0001t0002g0130 a0001c0001t0012g0129	4	274	0.0146	-20	c.16+ others(37): Show c.16+10936_16+10955delTTTTTTTTTTTTTTTTTTTT	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	84993902	TTTTTGTT others(13): Show TTTTTGTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG02258.hp2 others(14): Show HG01109.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02615.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG03130.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp1 NA18946.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0024 a0001c0001t0060 a0001c0001t0063	a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0011g0251 others(14): Show a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0011g0251 a0001c0001t0011g0252 a0001c0001t0011g0258 a0001c0001t0012g0247 a0001c0001t0012g0248 a0001c0001t0014g0016 a0001c0001t0014g0017 a0001c0001t0014g0019 a0001c0001t0015g0244 a0001c0001t0015g0245 a0001c0001t0015g0246 a0001c0001t0024g0249 a0001c0001t0024g0250 a0001c0001t0060g0018 a0001c0001t0063g0274	17	274	0.0620	-20	c.16+ others(37): Show c.16+22479_16+22498delTGTTTTGTTTTGTTTTGTTT	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	84998914	TTACCTAT others(13): Show TTACCTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02895.hp1 HG03041.hp2 others(1): Show HG02735.hp2 HG02895.hp1 HG03041.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0021 others(1): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0021 a0001c0001t0053	a0001c0001t0007g0002 a0001c0001t0010g0262 a0001c0001t0021g0268 others(1): Show a0001c0001t0007g0002 a0001c0001t0010g0262 a0001c0001t0021g0268 a0001c0001t0053g0271	4	274	0.0146	-20	c.16+ others(37): Show c.16+27450_16+27469delCCTATCTATCTATCTATCTA	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	84998948	ATCTATCT others(13): Show ATCTATCTATCTATCTATCTG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	274	0.0037	-20	c.16+ others(37): Show c.16+27485_16+27504delATCTATCTATCTATCTGTCT	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNA2_chr1_110588580_110611358	110611018	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02683.hp2 HG03927.hp2 HG02602.hp1 HG02683.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0043 a0001c0001t0170 a0001c0001t0040 a0001c0001t0043 a0001c0001t0170	a0001c0001t0040g0038 a0001c0001t0043g0041 a0001c0001t0170g0177 a0001c0001t0040g0038 a0001c0001t0043g0041 a0001c0001t0170g0177	3	438	0.0069	-20	c.-53 others(31): Show c.-5306_-5287delTCCTTCCTTCCTTCCTTCCT	KCNA2	ENSG00000177301.16	transcript	ENST00000316361.10	protein_coding		4661		chr1	TogoVar
KCNAB1_chr3_156115578_156543605	156502532	CCACACAC others(13): Show CCACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19240.hp2 HG03195.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0001 a0002c0004t0004 a0001c0003t0001 a0002c0004t0004	a0001c0003t0001g0021 a0002c0004t0004g0032 a0001c0003t0001g0021 a0002c0004t0004g0032	2	124	0.0161	-20	c.659 others(39): Show c.659-11809_659-11790delCACACACACACACACACACA	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNB1_chr20_49358877_49487668	49361048	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00544.hp1 others(61): Show HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG01074.hp2 HG01081.hp1 HG01192.hp2 HG01256.hp1 HG01346.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02027.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02602.hp1 HG02738.hp1 HG03017.hp1 HG03491.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18939.hp1 NA18941.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18959.hp2 NA18964.hp1 NA18970.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19011.hp1 NA19012.hp2 NA19057.hp2 NA19074.hp1 NA19084.hp1 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 others(32): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0092 a0001c0001t0109	a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0102 others(61): Show a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0160 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0208 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0007g0097 a0001c0001t0007g0131 a0001c0001t0007g0132 a0001c0001t0007g0212 a0001c0001t0007g0222 a0001c0001t0007g0224 a0001c0001t0011g0091 a0001c0001t0011g0142 a0001c0001t0011g0172 a0001c0001t0011g0178 a0001c0001t0011g0226 a0001c0001t0017g0005 a0001c0001t0017g0027 a0001c0001t0017g0197 a0001c0001t0018g0019 a0001c0001t0018g0120 a0001c0001t0018g0158 a0001c0001t0025g0089 a0001c0001t0025g0153 a0001c0001t0026g0093 a0001c0001t0026g0167 a0001c0001t0030g0107 a0001c0001t0030g0138 a0001c0001t0043g0152 a0001c0001t0044g0111 a0001c0001t0045g0189 a0001c0001t0046g0223 a0001c0001t0047g0220 a0001c0001t0048g0090 a0001c0001t0049g0188 a0001c0001t0050g0022 a0001c0001t0051g0157 a0001c0001t0052g0248 a0001c0001t0055g0118 a0001c0001t0056g0094 a0001c0001t0057g0141 a0001c0001t0058g0173 a0001c0001t0059g0010 a0001c0001t0060g0186 a0001c0001t0061g0243 a0001c0001t0062g0119 a0001c0001t0065g0199 a0001c0001t0066g0221 a0001c0001t0067g0085 a0001c0001t0068g0241 a0001c0001t0069g0087 a0001c0001t0070g0202 a0001c0001t0071g0209 a0001c0001t0092g0258 a0001c0001t0109g0194	64	278	0.2302	-20	c.11 others(33): Show c.11915_*11934delCACACACACACACACACACA	KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding		2828		chr20	TogoVar
KCNB2_chr8_72532225_72943349	72561715	ATATATAT others(13): Show ATATATATATATATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	164	0.0061	-20	c.-93 others(37): Show c.-93-5915_-93-5896delATCTATATCTATATATATAT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNB2_chr8_72532225_72943349	72561727	ATCTATAT others(13): Show ATCTATATCTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01167.hp1 HG02004.hp2 others(4): Show HG00621.hp1 HG01167.hp1 HG02004.hp2 HG02055.hp2 HG03041.hp2 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0012 a0001c0001 a0001c0004 a0001c0012	a0001c0001t0001 a0001c0004t0001 a0001c0012t0007 a0001c0001t0001 a0001c0004t0001 a0001c0012t0007	a0001c0001t0001g0115 a0001c0004t0001g0030 a0001c0004t0001g0031 others(4): Show a0001c0001t0001g0115 a0001c0004t0001g0030 a0001c0004t0001g0031 a0001c0004t0001g0032 a0001c0004t0001g0034 a0001c0004t0001g0035 a0001c0012t0007g0033	7	164	0.0427	-20	c.-93 others(37): Show c.-93-5913_-93-5894delCTATATCTATATATATATGT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNB2_chr8_72532225_72943349	72561758	TATGGATA others(13): Show TATGGATATATATATATATGG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0049 a0001c0001t0004g0049	1	164	0.0061	-20	c.-93 others(37): Show c.-93-5881_-93-5862delGGATATATATATATATGGAT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNB2_chr8_72532225_72943349	72596997	CTTGCTTT others(13): Show CTTGCTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02004.hp2 HG02055.hp2 others(6): Show HG01167.hp1 HG02004.hp2 HG02055.hp2 HG02647.hp2 HG03041.hp2 HG03139.hp2 HG03491.hp1 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0012	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0012t0007	a0001c0001t0001g0057 a0001c0003t0001g0007 a0001c0004t0001g0030 others(6): Show a0001c0001t0001g0057 a0001c0003t0001g0007 a0001c0004t0001g0030 a0001c0004t0001g0031 a0001c0004t0001g0032 a0001c0004t0001g0034 a0001c0004t0001g0035 a0001c0004t0001g0036 a0001c0012t0007g0033	9	164	0.0549	-20	c.579 others(39): Show c.579+28687_579+28706delGCTTTTTTTTTTTTTTTTTT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNB2_chr8_72532225_72943349	72597001	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	164	0.0061	-20	c.579 others(39): Show c.579+28710_579+28729delTTTTTTTTTTTTTTTTTTTT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNB2_chr8_72532225_72943349	72628398	GGGGTGTG others(13): Show GGGGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG03139.hp1 others(2): Show HG02486.hp1 HG02572.hp1 HG03139.hp1 HG03209.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 a0001c0001 a0001c0003 a0001c0011	a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0011t0001	a0001c0001t0003g0161 a0001c0001t0004g0001 a0001c0003t0001g0015 others(2): Show a0001c0001t0003g0161 a0001c0001t0004g0001 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0011t0001g0014	5	164	0.0305	-20	c.579 others(39): Show c.579+60087_579+60106delGGTGTGTGTGTGTGTGTGTG	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNB2_chr8_72532225_72943349	72850201	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	164	0.0061	-20	c.580 others(39): Show c.580-85716_580-85697delGTATGTGTGTGTGTGTGTGT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNB2_chr8_72532225_72943349	72859927	CAGCCTGG others(13): Show CAGCCTGGTCTCAAACTCCCG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG00673.hp2 others(42): Show HG00323.hp2 HG00621.hp2 HG00673.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01261.hp2 HG01928.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02451.hp1 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02970.hp1 HG03017.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18906.hp2 NA18969.hp1 NA18980.hp2 NA18991.hp2 NA19030.hp2 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0001c0012 a0002c0006 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0011t0001 a0001c0012t0007 a0002c0006t0002 a0004c0008t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0020 others(42): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0064 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0003g0134 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0004g0037 a0001c0001t0004g0043 a0001c0001t0004g0045 a0001c0001t0004g0051 a0001c0001t0005g0125 a0001c0001t0005g0128 a0001c0001t0008g0116 a0001c0002t0002g0083 a0001c0002t0002g0088 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0003g0153 a0001c0003t0001g0006 a0001c0003t0001g0013 a0001c0011t0001g0014 a0001c0012t0007g0033 a0002c0006t0002g0072 a0002c0006t0002g0073 a0004c0008t0002g0069	45	164	0.2744	-20	c.580 others(39): Show c.580-76006_580-75987delGCCTGGTCTCAAACTCCCGA	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNC2_chr12_75035078_75214839	75186048	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01358.hp2 others(11): Show HG00639.hp2 HG00735.hp1 HG01358.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG02148.hp1 HG02280.hp2 HG03130.hp1 HG03942.hp1 HG03942.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0011	a0001c0002t0001g0013 a0001c0002t0001g0016 a0001c0002t0001g0017 others(11): Show a0001c0002t0001g0013 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0004t0001g0005 a0001c0004t0001g0007 a0001c0004t0002g0009 a0001c0004t0005g0008 a0001c0004t0011g0006	14	316	0.0443	-20	c.687 others(39): Show c.687+21229_687+21248delATTTATTTATTTATTTATTT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75188861	CAATAAAT others(13): Show CAATAAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0116 a0001c0003t0001g0116	1	316	0.0032	-20	c.687 others(39): Show c.687+18416_687+18435delTATTTATTTATTTATTTATT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75191515	ATTATTAT others(13): Show ATTATTATTATTATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03195.hp2 HG03486.hp2 others(4): Show HG01884.hp2 HG03195.hp2 HG03486.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0020 others(1): Show a0001c0001t0006 a0001c0001t0019 a0001c0001t0020 a0001c0001t0038	a0001c0001t0006g0299 a0001c0001t0006g0308 a0001c0001t0006g0315 others(4): Show a0001c0001t0006g0299 a0001c0001t0006g0308 a0001c0001t0006g0315 a0001c0001t0019g0305 a0001c0001t0020g0310 a0001c0001t0020g0311 a0001c0001t0038g0304	7	316	0.0222	-20	c.687 others(39): Show c.687+15762_687+15781delAAAAAAAATAATAATAATAA	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75210776	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG03130.hp1 NA19240.hp1 others(1): Show HG02280.hp2 HG03130.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0004t0005 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0005 a0001c0004t0011	a0001c0001t0001g0064 a0001c0004t0001g0007 a0001c0004t0005g0008 others(1): Show a0001c0001t0001g0064 a0001c0004t0001g0007 a0001c0004t0005g0008 a0001c0004t0011g0006	4	316	0.0127	-20	c.-16 others(31): Show c.-1609_-1590delTCTTTCTTTCTTTCTTTCTT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding		938		chr12	TogoVar
KCND2_chr7_120268175_120755337	120339503	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0080 a0001c0001t0008g0080	1	80	0.0125	-20	c.111 others(41): Show c.1115+63774_1115+63793delGTGTGTGTGTGTGTGTGTGT	KCND2	ENSG00000184408.10	transcript	ENST00000331113.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
KCND2_chr7_120268175_120755337	120397993	GTGTATAT others(13): Show GTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	80	0.0125	-20	c.111 others(43): Show c.1115+122248_1115+122267delGTATATATATATATATATAT	KCND2	ENSG00000184408.10	transcript	ENST00000331113.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar

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