Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KAT6A_chr8_41924479_42056987	42054254	A A	AATATATA others(13): Show AATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0057 a0001c0003t0057	a0001c0003t0057g0163 a0001c0003t0057g0163	1	374	0.0027	20	c.-26 others(31): Show c.-2680_-2679insATATATATATATATATATAT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2268		chr8	TogoVar
KAT6A_chr8_41924479_42056987	42054262	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0129 a0001c0008t0007g0129	1	374	0.0027	20	c.-26 others(31): Show c.-2688_-2687insATATATATATATATATTTTT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2276		chr8	TogoVar
KAT6A_chr8_41924479_42056987	42054285	G G	GTATATAT others(13): Show GTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0014 a0001c0001t0054g0014	1	374	0.0027	20	c.-27 others(31): Show c.-2711_-2710insTATATATATATATATATATA	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2299		chr8	TogoVar
KAT6B_chr10_74821600_75037624	74912375	G G	GGATAGAT others(13): Show GGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02698.hp1 HG03225.hp1 others(3): Show HG02572.hp1 HG02698.hp1 HG03225.hp1 HG03225.hp2 NA18944.hp2 NA18974.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0004 a0001c0001t0001 a0001c0001t0002 a0002c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0084 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0084 a0001c0001t0002g0083 a0001c0001t0002g0089 a0002c0002t0004g0140	6	236	0.0254	20	c.622 others(39): Show c.622-47576_622-47557dupTAGATAGATAGATAGATAGA	KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
KAT6B_chr10_74821600_75037624	74981306	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01256.hp2 HG01993.hp2 others(14): Show HG00642.hp2 HG01256.hp2 HG01993.hp2 HG02040.hp1 HG02083.hp1 HG02559.hp2 HG02630.hp2 HG02717.hp1 HG02970.hp1 HG03225.hp1 NA18522.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18979.hp1 NA19043.hp2 NA19060.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0011c0013	a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 a0004c0004t0001 a0004c0004t0002 a0011c0013t0001	a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0039 others(14): Show a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0175 a0001c0001t0009g0121 a0002c0002t0001g0040 a0004c0004t0001g0012 a0004c0004t0001g0014 a0004c0004t0002g0017 a0004c0004t0002g0018 a0011c0013t0001g0042	17	236	0.0720	20	c.223 others(37): Show c.2232-465_2232-446dupCCTTCCTTCCTTCCTTCCTT	KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
KAT7_chr17_49783681_49840026	49797009	G G	GTAGATGC others(13): Show GTAGATGCCTAATACTTCAGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp2 NA18906.hp2 HG02717.hp1 HG02922.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0037 a0001c0003t0021g0215 a0001c0003t0021g0037 a0001c0003t0021g0215	3	346	0.0087	20	c.340 others(34): Show c.340+90_340+109dupCCTAATACTTCAGCTAGATG	KAT7	ENSG00000136504.15	transcript	ENST00000259021.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
KAT8_chr16_31112664_31136359	31117369	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00642.hp1 others(47): Show HG00408.hp1 HG00558.hp1 HG00642.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02273.hp2 HG02572.hp1 HG02602.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03139.hp1 HG03453.hp1 HG03669.hp2 HG04228.hp1 HG04228.hp2 NA18939.hp1 NA18945.hp1 NA18968.hp2 NA18981.hp2 NA18986.hp2 NA18995.hp2 NA19057.hp1 NA19081.hp2 NA19088.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0093	50	290	0.1724	20	c.-31 others(29): Show c.-313_-312insAAATAAATAAATAAATAAAT	KAT8	ENSG00000103510.20	transcript	ENST00000219797.9	protein_coding		294		chr16	TogoVar
KAT8_chr16_31112664_31136359	31117398	A A	AAATAAAT others(13): Show AAATAAATAAATAAATAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	290	0.0035	20	c.-28 others(29): Show c.-284_-283insAATAAATAAATAAATAAATT	KAT8	ENSG00000103510.20	transcript	ENST00000219797.9	protein_coding		265		chr16	TogoVar
KAT8_chr16_31112664_31136359	31121085	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	290	0.0035	20	c.462 others(35): Show c.462+583_462+602dupGTGTGTGTGTGTGTGTGTGT	KAT8	ENSG00000103510.20	transcript	ENST00000219797.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNA1_chr6_149589873_149653714	149609802	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03453.hp2 HG03471.hp1 HG02976.hp2 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0002g0021 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0002g0021	3	296	0.0101	20	c.502 others(37): Show c.502-5021_502-5020insTTTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNA1_chr6_149589873_149653714	149609814	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03579.hp2 NA18522.hp1 HG03195.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0050 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0050	3	296	0.0101	20	c.502 others(37): Show c.502-5033_502-5032insGTTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNA1_chr6_149589873_149653714	149613179	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG00099.hp1 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0134 a0001c0002t0006g0220 a0001c0001t0001g0134 a0001c0002t0006g0220	2	296	0.0068	20	c.502 others(37): Show c.502-8417_502-8398dupTTTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNA1_chr6_149589873_149653714	149613199	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	296	0.0034	20	c.502 others(37): Show c.502-8418_502-8417insCTTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNA1_chr6_149589873_149653714	149613200	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03492.hp2 HG04228.hp2 HG02132.hp2 HG03492.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0137	3	296	0.0101	20	c.502 others(37): Show c.502-8419_502-8418insCTTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNA1_chr6_149589873_149653714	149615132	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0146 a0002c0003t0007g0146	1	296	0.0034	20	c.501 others(37): Show c.501+7951_501+7970dupTTTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNA1_chr6_149589873_149653714	149617939	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02155.hp2 HG03486.hp2 others(2): Show HG02055.hp2 HG02155.hp2 HG03486.hp2 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0049 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0090	5	296	0.0169	20	c.501 others(37): Show c.501+5144_501+5163dupATTTATTTATTTATTTATTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNA1_chr6_149589873_149653714	149634275	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01071.hp2 others(38): Show HG00735.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01952.hp2 HG02004.hp1 HG02040.hp1 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03139.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03710.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18947.hp1 NA18951.hp1 NA18961.hp2 NA18977.hp2 NA18993.hp2 NA18995.hp1 NA19004.hp2 NA19010.hp1 NA19043.hp2 NA19082.hp2 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0028 others(37): Show a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0240 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0003g0011 a0001c0001t0005g0010 a0003c0004t0001g0019	41	296	0.1385	20	c.163 others(37): Show c.163-1379_163-1360dupATTTTATTTTATTTTATTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	2/10			chr6	TogoVar
KATNAL1_chr13_30197630_30312551	30218227	T T	TATATATA others(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0151 a0001c0002t0151	a0001c0002t0151g0115 a0001c0002t0151g0115	1	386	0.0026	20	c.114 others(39): Show c.1148-7786_1148-7785insTTATATATATATATATATAT	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	9/10			chr13	TogoVar
KATNAL1_chr13_30197630_30312551	30274891	A A	ACATACGC others(13): Show ACATACGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0108	1	386	0.0026	20	c.323 others(37): Show c.323+5171_323+5172insCGCGCGCGCGCGCGCGTATG	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	3/10			chr13	TogoVar
KATNAL1_chr13_30197630_30312551	30274891	A A	ACGCGCGC others(13): Show ACGCGCGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0191 a0001c0001t0086g0191	1	386	0.0026	20	c.323 others(37): Show c.323+5171_323+5172insCGCGCGCGCGCGCGCGCGCG	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	3/10			chr13	TogoVar
KATNAL1_chr13_30197630_30312551	30274891	A A	ACGCGCGC others(13): Show ACGCGCGCGCGCGTGCGCGCG	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0278 a0001c0001t0049g0278	1	386	0.0026	20	c.323 others(37): Show c.323+5171_323+5172insCGCGCGCACGCGCGCGCGCG	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	3/10			chr13	TogoVar
KATNBL1_chr15_34135674_34215096	34137036	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	344	0.0029	20	c.53 others(31): Show c.5302_*5303insTTTTTTTTTTTTTTTTTTTT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding		3637		chr15	TogoVar
KATNBL1_chr15_34135674_34215096	34181669	T T	TATATATG others(13): Show TATATATGTCCATATATATCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	344	0.0029	20	c.-14 others(39): Show c.-14-17980_-14-17979insGGATATATATGGACATATAT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KATNBL1_chr15_34135674_34215096	34188137	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	344	0.0029	20	c.-15 others(39): Show c.-15+21794_-15+21813dupTTTTTTTTTTTTTTTTTTTT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KATNBL1_chr15_34135674_34215096	34191154	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG04199.hp1 NA20905.hp1 HG02300.hp1 HG04199.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0324 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0324	3	344	0.0087	20	c.-15 others(39): Show c.-15+18777_-15+18796dupATATATATATATATATATAT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KATNIP_chr16_27545144_27785344	27661937	T T	TATATATA others(13): Show TATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0121 a0003c0003t0002g0121	1	152	0.0066	20	c.540 others(39): Show c.540+13215_540+13216insCACATACATATATATATATA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27690363	T T	TAGATAGA others(13): Show TAGATAGATAGATGATAGATA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp2 NA19002.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0095 a0001c0001t0001g0009 a0001c0001t0001g0095	2	152	0.0132	20	c.941 others(37): Show c.941-7965_941-7964insAGATAGATAGATGATAGATA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	8/27			chr16	TogoVar
KATNIP_chr16_27545144_27785344	27706144	A A	AAGCTCAG others(13): Show AAGCTCAGTCCCACCCCCTGG	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.138 others(39): Show c.1389+2159_1389+2178dupCCCCCTGGAGCTCAGTCCCA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27706144	A A	AAGCTCAG others(13): Show AAGCTCAGTCCCACCCGCTGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0019 a0019	a0019c0032 a0019c0032	a0019c0032t0003 a0019c0032t0003	a0019c0032t0003g0001 a0019c0032t0003g0001	1	152	0.0066	20	c.138 others(39): Show c.1389+2161_1389+2162insGCTGGAGCTCAGTCCCACCC	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KAZN_chr1_14593685_15123043	14695510	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03834.hp1 HG03927.hp1 HG03654.hp1 HG03834.hp1 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0086 a0002c0002t0001g0079 a0002c0002t0001g0083 a0001c0001t0001g0086 a0002c0002t0001g0079 a0002c0002t0001g0083	3	146	0.0206	20	c.226 others(39): Show c.226+96302_226+96303insTTTTTTTTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14702326	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18963.hp2 NA18942.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0022 a0002c0002t0001 a0002c0002t0022	a0002c0002t0001g0061 a0002c0002t0022g0077 a0002c0002t0001g0061 a0002c0002t0022g0077	2	146	0.0137	20	c.226 others(41): Show c.226+103124_226+103143dupTGTGTGTGTGTGTGTGTGTG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14746211	A A	ACTAAGGA others(13): Show ACTAAGGATAGATGGTGTTCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp2 HG02572.hp1 others(4): Show HG00735.hp1 HG01192.hp2 HG02572.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp2 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0007 a0001c0001t0008 a0002c0002t0001 others(1): Show a0001c0001t0007 a0001c0001t0008 a0002c0002t0001 a0002c0007t0001	a0001c0001t0007g0087 a0001c0001t0008g0030 a0002c0002t0001g0028 others(4): Show a0001c0001t0007g0087 a0001c0001t0008g0030 a0002c0002t0001g0028 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0007t0001g0001 a0002c0007t0001g0008	7	146	0.0480	20	c.226 others(41): Show c.226+146991_226+147010dupAAGGATAGATGGTGTTCTCT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14788777	C C	CCACTTGT others(13): Show CCACTTGTACACGTGGGAGGT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0024 a0002c0004t0024	a0002c0004t0024g0059 a0002c0004t0024g0059	1	146	0.0069	20	c.227 others(41): Show c.227-171893_227-171874dupGGGAGGTCACTTGTACACGT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883355	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03471.hp2 HG02717.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0004 a0001c0001t0004 a0001c0003t0004	a0001c0001t0004g0044 a0001c0003t0004g0125 a0001c0001t0004g0044 a0001c0003t0004g0125	2	146	0.0137	20	c.227 others(39): Show c.227-77277_227-77258dupGAAAGAAAGAAAGAAAGAAA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14921153	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	146	0.0069	20	c.227 others(39): Show c.227-39515_227-39496dupCACACACACACACACACACA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14997432	G G	GTTTCTCC others(13): Show GTTTCTCCCTGTTGGTCAGGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0016 a0001c0001t0027g0016	1	146	0.0069	20	c.418 others(39): Show c.418+36559_418+36578dupTTCTCCCTGTTGGTCAGGCT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15031553	G G	GTGTGTTG others(13): Show GTGTGTTGTGTTGTGTTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp2 HG01358.hp2 others(15): Show HG00099.hp2 HG00621.hp2 HG01358.hp2 HG01516.hp1 HG02004.hp2 HG02622.hp2 HG02717.hp2 HG02809.hp2 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA19079.hp1 NA20300.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0006 a0005c0016 a0006c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0002 a0002c0002t0001 a0002c0002t0022 a0002c0004t0001 a0002c0006t0006 a0005c0016t0002 a0006c0014t0005	a0001c0001t0001g0075 a0001c0001t0002g0042 a0001c0001t0002g0122 others(15): Show a0001c0001t0001g0075 a0001c0001t0002g0042 a0001c0001t0002g0122 a0001c0001t0002g0137 a0001c0001t0004g0064 a0001c0003t0002g0082 a0002c0002t0001g0024 a0002c0002t0001g0038 a0002c0002t0001g0073 a0002c0002t0001g0081 a0002c0002t0001g0104 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0022g0077 a0002c0004t0001g0089 a0002c0006t0006g0036 a0005c0016t0002g0022 a0006c0014t0005g0097	18	146	0.1233	20	c.419 others(37): Show c.419-3168_419-3149dupTGTTGTGTTGTGTTGTGTTG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15050159	G G	GGAATAGA others(13): Show GGAATAGAATAGAATAGAATA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0105 a0002c0002t0001g0105	1	146	0.0069	20	c.727 others(37): Show c.727-5888_727-5869dupTAGAATAGAATAGAATAGAA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15092074	T T	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0089 a0002c0004t0001g0089	1	146	0.0069	20	c.122 others(39): Show c.1223-2087_1223-2086insATTTTTTTTTTTTTTTTTTG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15101164	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp2 HG02809.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0146 a0001c0001t0003g0050 a0001c0001t0003g0146	2	146	0.0137	20	c.154 others(37): Show c.1548-375_1548-356dupCTCTCTCTCTCTCTCTCTCT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15110549	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp2 HG02976.hp2 others(2): Show HG02451.hp1 HG02717.hp2 HG02976.hp2 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0129 a0001c0001t0002g0130 others(2): Show a0001c0001t0002g0046 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0137 a0001c0001t0002g0144	5	146	0.0343	20	c.204 others(39): Show c.2049-1859_2049-1858insGTGTGTGTGTGTGTGTGTGT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1993922	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0189 a0001c0001t0007g0189	1	389	0.0026	20	c.-90 others(39): Show c.-908-6345_-908-6326dupCACACACACACACACACACA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD3_chr11_106046098_106082347	106064543	C C	CTAAATAA others(13): Show CTAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02258.hp2 HG02723.hp1 others(1): Show HG01081.hp1 HG02258.hp2 HG02723.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0074 a0001c0001t0001g0210 a0001c0001t0004g0156 others(1): Show a0001c0001t0001g0074 a0001c0001t0001g0210 a0001c0001t0004g0156 a0001c0001t0005g0159	4	366	0.0109	20	c.-12 others(37): Show c.-12-5435_-12-5434insTTTATTTATTTATTTATTTA	KBTBD3	ENSG00000182359.15	transcript	ENST00000531837.2	protein_coding	2/3			chr11	TogoVar
KCNAB1_chr3_156115578_156543605	156143569	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0046 a0001c0001t0001g0047	2	124	0.0161	20	c.275 others(39): Show c.275+22692_275+22711dupTTTTTTTTTTTTTTTTTTTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156357159	G G	GCGCACAC others(13): Show GCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0088 a0001c0001t0001g0057 a0001c0001t0001g0088	2	124	0.0161	20	c.276 others(39): Show c.276-64456_276-64455insGCACACACACACACACACAC	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156387014	C C	CTCTTTTT others(13): Show CTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20129.hp2 HG01891.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0069 a0001c0002t0007g0010 a0001c0001t0001g0069 a0001c0002t0007g0010	2	124	0.0161	20	c.276 others(39): Show c.276-34601_276-34600insCTTTTTTTTTTTTTTTTTTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156390533	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	124	0.0081	20	c.276 others(39): Show c.276-31082_276-31063dupTTCCTTCCTTCCTTCCTTCC	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156417719	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	124	0.0081	20	c.276 others(37): Show c.276-3884_276-3883insAAAAAAAAAAAAAAAAAAAA	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156428488	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	124	0.0081	20	c.319 others(37): Show c.319+6856_319+6875dupACACACACACACACACACAC	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156428533	A A	ACACACAC others(13): Show ACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	124	0.0081	20	c.319 others(37): Show c.319+6875_319+6876insACACACACACACACACACCC	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar

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