Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KMT2C_chr7_152129925_152441003	152296995	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0083 a0002c0002t0006g0083	1	172	0.0058	20	c.849 others(39): Show c.849+12970_849+12971insTTCTTTCTTTCTTTCTTTCT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152296997	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18974.hp2 HG00099.hp1 NA18974.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0018c0029 a0001c0001 a0018c0029	a0001c0001t0001 a0018c0029t0001 a0001c0001t0001 a0018c0029t0001	a0001c0001t0001g0129 a0018c0029t0001g0140 a0001c0001t0001g0129 a0018c0029t0001g0140	2	172	0.0116	20	c.849 others(39): Show c.849+12949_849+12968dupCTTTCTTTCTTTCTTTCTTT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152297051	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGAAAGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG02895.hp2 others(1): Show HG00099.hp2 HG00544.hp2 HG02895.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0035 a0001c0001t0001g0093 a0001c0001t0001g0094 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0003t0001g0120	4	172	0.0233	20	c.849 others(39): Show c.849+12914_849+12915insGTCTTTCTTTCTTTCTTTCT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152297051	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGACAGAC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	172	0.0058	20	c.849 others(39): Show c.849+12914_849+12915insGTCTGTCTTTCTTTCTTTCT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152297051	A A	AAGAAAGA others(13): Show AAGAAAGACAGACAGAAAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0001 a0002c0005t0005g0001	1	172	0.0058	20	c.849 others(39): Show c.849+12914_849+12915insCTCTTTCTGTCTGTCTTTCT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152299319	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0113 a0002c0005t0001g0113	1	172	0.0058	20	c.849 others(39): Show c.849+10627_849+10646dupATTTATTTATTTATTTATTT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152307195	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	172	0.0058	20	c.849 others(37): Show c.849+2751_849+2770dupTCCTTCCTTCCTTCCTTCCT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152307195	G G	GAGGGAGG others(13): Show GAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02970.hp1 HG03139.hp2 others(1): Show HG01243.hp2 HG02970.hp1 HG03139.hp2 NA19030.hp2	a0004 a0008 a0004 a0008	a0004c0008 a0008c0013 a0004c0008 a0008c0013	a0004c0008t0003 a0008c0013t0001 a0004c0008t0003 a0008c0013t0001	a0004c0008t0003g0007 a0004c0008t0003g0008 a0004c0008t0003g0009 others(1): Show a0004c0008t0003g0007 a0004c0008t0003g0008 a0004c0008t0003g0009 a0008c0013t0001g0121	4	172	0.0233	20	c.849 others(37): Show c.849+2770_849+2771insTCCTTCCTTCCTTCCTCCCT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152308673	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 NA18985.hp1 HG03490.hp2 HG03492.hp1 NA18985.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0055 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0055 a0002c0002t0002g0067 a0002c0002t0002g0068	3	172	0.0174	20	c.849 others(37): Show c.849+1273_849+1292dupTTTTTTTTTTTTTTTTTTTT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2E_chr7_105009205_105120019	105071608	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02132.hp2 HG00423.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0001g0136 a0001c0001t0001g0148	2	304	0.0066	20	c.498 others(37): Show c.498-2010_498-2009insATATATATATATATATTTTT	KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
KMT2E_chr7_105009205_105120019	105071608	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA20300.hp2 NA18984.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0133 a0001c0001t0001g0140	2	304	0.0066	20	c.498 others(37): Show c.498-2010_498-2009insATATATATATATATTTTTTT	KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
KMT5B_chr11_68149863_68218296	68191173	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	328	0.0031	20	c.-76 others(37): Show c.-76-1041_-76-1022dupCACACACACACACACACACA	KMT5B	ENSG00000110066.16	transcript	ENST00000304363.9	protein_coding	1/10			chr11	TogoVar
KMT5C_chr19_55334876_55353121	55339763	T T	TGGGAGCG others(13): Show TGGGAGCGCCGTGAGCTAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	406	0.0025	20	c.-33 others(29): Show c.-338_-337insGGGAGCGCCGTGAGCTAATG	KMT5C	ENSG00000133247.14	transcript	ENST00000255613.8	protein_coding		112		chr19	TogoVar
KNDC1_chr10_133155219_133231412	133181833	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01952.hp2 HG02027.hp1 others(3): Show HG01943.hp1 HG01952.hp2 HG02027.hp1 HG02132.hp1 HG02148.hp2 NA19003.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0002c0005 a0002c0061 others(1): Show a0002c0002 a0002c0005 a0002c0061 a0008c0017	a0002c0002t0002 a0002c0005t0002 a0002c0061t0002 others(1): Show a0002c0002t0002 a0002c0005t0002 a0002c0061t0002 a0008c0017t0001	a0002c0002t0002g0059 a0002c0002t0002g0218 a0002c0005t0002g0160 others(3): Show a0002c0002t0002g0059 a0002c0002t0002g0218 a0002c0005t0002g0160 a0002c0005t0002g0161 a0002c0061t0002g0061 a0008c0017t0001g0060	6	332	0.0181	20	c.361 others(37): Show c.361-1511_361-1510insACACACACACACACACACAC	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	3/29			chr10	TogoVar
KNDC1_chr10_133155219_133231412	133181834	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0237 a0003c0015t0002g0237	1	332	0.0030	20	c.361 others(37): Show c.361-1502_361-1483dupACACACACACACACACACAC	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNG1_chr3_186712359_186749410	186714218	C C	CAAAGAAA others(13): Show CAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG01081.hp1 others(16): Show HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp2 HG01952.hp1 HG02622.hp1 HG02886.hp2 HG03041.hp2 HG03209.hp1 HG03490.hp1 HG03492.hp1 HG03704.hp1 NA18953.hp2 NA18997.hp2 NA19091.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0002c0002 a0002c0006 others(4): Show a0001c0001 a0002c0002 a0002c0006 a0002c0011 a0003c0012 a0004c0003 a0010c0018	a0001c0001t0001 a0001c0001t0015 a0001c0001t0022 others(10): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0022 a0002c0002t0001 a0002c0002t0005 a0002c0002t0008 a0002c0006t0002 a0002c0006t0004 a0002c0006t0018 a0002c0011t0006 a0003c0012t0003 a0004c0003t0003 a0010c0018t0001	a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0172 others(15): Show a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0015g0168 a0001c0001t0022g0165 a0002c0002t0001g0193 a0002c0002t0001g0196 a0002c0002t0005g0244 a0002c0002t0008g0041 a0002c0006t0002g0084 a0002c0006t0004g0082 a0002c0006t0018g0009 a0002c0011t0006g0022 a0003c0012t0003g0076 a0003c0012t0003g0077 a0004c0003t0003g0012 a0010c0018t0001g0007	19	430	0.0442	20	c.-33 others(31): Show c.-3325_-3324insAAAGAAAGAAAGAAAGAAAG	KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding		3140		chr3	TogoVar
KNG1_chr3_186712359_186749410	186725543	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 NA19043.hp2 HG01258.hp2 NA19043.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0002 a0003c0005t0043 a0002c0002t0002 a0003c0005t0043	a0002c0002t0002g0234 a0003c0005t0043g0184 a0002c0002t0002g0234 a0003c0005t0043g0184	2	430	0.0047	20	c.564 others(35): Show c.564+302_564+303insTTTTTTTTTTTTTTTTTTTT	KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KNG1_chr3_186712359_186749410	186749199	G G	GAAGCTAA others(13): Show GAAGCTAAGAGGGCAAAGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0099 a0004c0003t0002g0099	1	430	0.0023	20	c.68 others(31): Show c.6868_*6869insAAGCTAAGAGGGCAAAGACC	KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding		4790		chr3	TogoVar
KNSTRN_chr15_40377721_40399288	40397480	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG02257.hp2 HG02486.hp1 HG01928.hp1 HG02257.hp2 HG02486.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0004 a0002c0002t0001 a0003c0003t0001 a0001c0001t0004 a0002c0002t0001 a0003c0003t0001	a0001c0001t0004g0020 a0002c0002t0001g0006 a0003c0003t0001g0006 a0001c0001t0004g0020 a0002c0002t0001g0006 a0003c0003t0001g0006	3	374	0.0080	20	c.38 others(31): Show c.3883_*3884insAAAAAAAAAAAAAAAAAAAA	KNSTRN	ENSG00000128944.14	transcript	ENST00000249776.13	protein_coding		3193		chr15	TogoVar
KNTC1_chr12_122522249_122631396	122540337	T T	TAATTTTT others(13): Show TAATTTTTTGTTTTTAGTAGA	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	320	0.0031	20	c.445 others(35): Show c.445+584_445+603dupAATTTTTTGTTTTTAGTAGA	KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	5/63		INFO_REALIGN_3_PRIME	chr12	TogoVar
KNTC1_chr12_122522249_122631396	122541287	G G	GCCTGCCT others(13): Show GCCTGCCTGCCTGCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA20129.hp1 HG02723.hp2 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0275 a0002c0003t0001g0291 a0002c0003t0001g0275 a0002c0003t0001g0291	2	320	0.0063	20	c.446 others(35): Show c.446-760_446-759insGCCTGCCTGCCTTCCTTCCT	KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	5/63		INFO_REALIGN_3_PRIME	chr12	TogoVar
KNTC1_chr12_122522249_122631396	122541287	G G	GCCTGCCT others(13): Show GCCTGCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	320	0.0031	20	c.446 others(35): Show c.446-760_446-759insGCCTTCCTTCCTTCCTTCCT	KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	5/63		INFO_REALIGN_3_PRIME	chr12	TogoVar
KNTC1_chr12_122522249_122631396	122541287	G G	GCCTTCCT others(13): Show GCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02723.hp1 NA19085.hp2 HG02109.hp2 HG02723.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0010t0001 a0001c0002t0001 a0001c0010t0001	a0001c0002t0001g0096 a0001c0010t0001g0283 a0001c0010t0001g0284 a0001c0002t0001g0096 a0001c0010t0001g0283 a0001c0010t0001g0284	3	320	0.0094	20	c.446 others(35): Show c.446-744_446-725dupTTCCTTCCTTCCTTCCTTCC	KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	5/63		INFO_REALIGN_3_PRIME	chr12	TogoVar
KNTC1_chr12_122522249_122631396	122554076	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	320	0.0031	20	c.127 others(39): Show c.1272+2385_1272+2404dupATATATATATATATATATAT	KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	16/63		INFO_REALIGN_3_PRIME	chr12	TogoVar
KPNA1_chr3_122416902_122519939	122430515	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG01243.hp2 others(22): Show HG00323.hp1 HG00558.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp2 HG03831.hp1 NA18942.hp2 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18964.hp2 NA18980.hp2 NA18989.hp1 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19060.hp1 NA19064.hp2 NA19077.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0018 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023	a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0173 others(22): Show a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0230 a0001c0001t0002g0236 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0248 a0001c0001t0006g0215 a0001c0001t0018g0377 a0001c0001t0021g0172 a0001c0001t0021g0217 a0001c0001t0023g0193	25	400	0.0625	20	c.125 others(39): Show c.1251-2819_1251-2800dupACACACACACACACACACAC	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	12/13			chr3	TogoVar
KPNA1_chr3_122416902_122519939	122452607	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0334 a0001c0001t0003g0334	1	400	0.0025	20	c.565 others(35): Show c.565-544_565-543insCCCTTCCTTCCTTCCTTCCT	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	6/13			chr3	TogoVar
KPNA1_chr3_122416902_122519939	122496319	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0312 a0001c0001t0013g0312	1	400	0.0025	20	c.129 others(34): Show c.129+98_129+117dupGTGTGTGTGTGTGTGTGTGT	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	2/13			chr3	TogoVar
KPNA3_chr13_49694320_49797682	49730519	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	376	0.0027	20	c.383 others(37): Show c.383+1832_383+1851dupTTTTTTTTTTTTTTTTTTTT	KPNA3	ENSG00000102753.10	transcript	ENST00000261667.8	protein_coding	6/16			chr13	TogoVar
KPNA4_chr3_160490007_160570571	160519801	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0156 a0001c0003t0004g0156	1	308	0.0033	20	c.903 others(37): Show c.903+1958_903+1977dupTTTTTTTTTTTTTTTTTTTT	KPNA4	ENSG00000186432.10	transcript	ENST00000334256.9	protein_coding	11/16			chr3	TogoVar
KPNA5_chr6_116676211_116746867	116711538	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0161 a0001c0001t0021g0165 a0001c0001t0021g0161 a0001c0001t0021g0165	2	344	0.0058	20	c.657 others(37): Show c.657-4673_657-4654dupGTGTGTGTGTGTGTGTGTGT	KPNA5	ENSG00000196911.12	transcript	ENST00000368564.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KPNA5_chr6_116676211_116746867	116726061	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02258.hp1 HG02602.hp1 others(2): Show HG01106.hp2 HG02258.hp1 HG02602.hp1 HG02965.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0004 a0001c0001t0017	a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0017g0316 others(2): Show a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0017g0316 a0001c0001t0017g0320 a0001c0001t0017g0326	5	344	0.0145	20	c.112 others(37): Show c.1125+188_1125+207dupGTGTGTGTGTGTGTGTGTGT	KPNA5	ENSG00000196911.12	transcript	ENST00000368564.7	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KPNA6_chr1_32103056_32181563	32128426	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	244	0.0041	20	c.4+2 others(35): Show c.4+20293_4+20294insTATATATATATATATATACA	KPNA6	ENSG00000025800.14	transcript	ENST00000373625.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
KPNA7_chr7_99168572_99213115	99180742	C C	CGTGTCTC others(13): Show CGTGTCTCTCTCTCCCCATCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp1 HG02717.hp1 others(4): Show HG02109.hp2 HG02615.hp1 HG02717.hp1 HG02809.hp1 HG03041.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0096 others(4): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0230 a0001c0001t0001g0271	7	334	0.0210	20	c.131 others(39): Show c.1317+1140_1317+1141insAGATGGGGAGAGAGAGACAC	KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10			chr7	TogoVar
KPNA7_chr7_99168572_99213115	99180859	G G	GTCTCTCT others(13): Show GTCTCTCTCTCTCTCCCCGTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG01081.hp1 others(25): Show HG00280.hp1 HG00621.hp2 HG01081.hp1 HG01168.hp1 HG02080.hp1 HG02135.hp2 HG02630.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03490.hp1 HG03688.hp1 HG04204.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18982.hp1 NA18994.hp1 NA19002.hp2 NA19005.hp2 NA19062.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0004 a0003c0008 others(1): Show a0001c0001 a0001c0004 a0003c0008 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0003c0008t0001 a0009c0013t0002	a0001c0001t0001g0119 a0001c0001t0001g0210 a0001c0001t0001g0219 others(24): Show a0001c0001t0001g0119 a0001c0001t0001g0210 a0001c0001t0001g0219 a0001c0001t0001g0272 a0001c0001t0002g0068 a0001c0004t0001g0032 a0001c0004t0001g0053 a0001c0004t0001g0075 a0001c0004t0001g0099 a0001c0004t0001g0122 a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0004t0001g0167 a0001c0004t0001g0301 a0001c0004t0001g0302 a0001c0004t0001g0308 a0001c0004t0001g0309 a0001c0004t0001g0310 a0001c0004t0001g0313 a0001c0004t0001g0314 a0001c0004t0001g0316 a0001c0004t0001g0318 a0001c0004t0001g0323 a0003c0008t0001g0003 a0003c0008t0001g0021 a0003c0008t0001g0057 a0009c0013t0002g0304	28	334	0.0838	20	c.131 others(39): Show c.1317+1023_1317+1024insGACGGGGAGAGAGAGAGAGA	KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10			chr7	TogoVar
KPNA7_chr7_99168572_99213115	99180859	G G	GTGTCTCT others(13): Show GTGTCTCTCTCTCTCCCCGTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19088.hp1 HG03209.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0130 a0001c0004t0001g0265 a0001c0001t0001g0130 a0001c0004t0001g0265	2	334	0.0060	20	c.131 others(39): Show c.1317+1023_1317+1024insGACGGGGAGAGAGAGAGACA	KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10			chr7	TogoVar
KPNA7_chr7_99168572_99213115	99181061	G G	GTCTCTCT others(13): Show GTCTCTCTCTATCTGTGTCTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02074.hp2 HG02129.hp1 others(12): Show HG02027.hp1 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02280.hp2 HG02630.hp1 NA18612.hp2 NA18945.hp1 NA18952.hp2 NA18954.hp2 NA18964.hp2 NA18980.hp2 NA18984.hp1 NA19005.hp1 NA19067.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0016 a0004c0011	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0016t0001 a0004c0011t0001	a0001c0001t0001g0125 a0001c0002t0001g0027 a0001c0002t0001g0081 others(12): Show a0001c0001t0001g0125 a0001c0002t0001g0027 a0001c0002t0001g0081 a0001c0002t0001g0116 a0001c0002t0001g0206 a0001c0002t0001g0213 a0001c0002t0001g0228 a0001c0002t0001g0237 a0001c0002t0001g0259 a0001c0002t0001g0262 a0001c0002t0001g0277 a0001c0005t0001g0168 a0001c0006t0001g0046 a0001c0016t0001g0194 a0004c0011t0001g0223	15	334	0.0449	20	c.131 others(37): Show c.1317+821_1317+822insGAGACACAGATAGAGAGAGA	KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10			chr7	TogoVar
KPNB1_chr17_47644919_47690505	47675361	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0182 a0001c0004t0005g0182	1	384	0.0026	20	c.191 others(37): Show c.1912+589_1912+590insTTTTTTTTTTTTTTTTTTTT	KPNB1	ENSG00000108424.11	transcript	ENST00000290158.9	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
KRAS_chr12_25200246_25255929	25225286	T T	TTATTTAT others(13): Show TTATTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	346	0.0029	20	c.450 others(35): Show c.450+327_450+328insTATATATATATATATAAATA	KRAS	ENSG00000133703.14	transcript	ENST00000256078.10	protein_coding	4/5			chr12	TogoVar
KRAS_chr12_25200246_25255929	25249591	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01168.hp1 HG01169.hp1 others(7): Show HG00735.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG02647.hp2 HG02965.hp1 HG03225.hp1 HG03492.hp1 NA18522.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0023 a0001c0001t0004 a0001c0001t0023	a0001c0001t0004g0020 a0001c0001t0004g0290 a0001c0001t0004g0292 others(6): Show a0001c0001t0004g0020 a0001c0001t0004g0290 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0023g0291	10	346	0.0289	20	c.-12 others(37): Show c.-12+1159_-12+1160insTTTTTTTTTTTTTTTTTTTT	KRAS	ENSG00000133703.14	transcript	ENST00000256078.10	protein_coding	1/5			chr12	TogoVar
KRBA2_chr17_8353822_8381704	8374937	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02965.hp1 NA18522.hp2 others(4): Show HG02040.hp2 HG02965.hp1 NA18522.hp2 NA18950.hp1 NA18959.hp2 NA18981.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0040 a0001c0001t0105 a0001c0002t0018 others(4): Show a0001c0001t0040 a0001c0001t0105 a0001c0002t0018 a0001c0002t0037 a0001c0002t0106 a0001c0002t0125 a0001c0002t0142	a0001c0001t0040g0090 a0001c0001t0105g0089 a0001c0002t0018g0191 others(4): Show a0001c0001t0040g0090 a0001c0001t0105g0089 a0001c0002t0018g0191 a0001c0002t0037g0085 a0001c0002t0106g0189 a0001c0002t0125g0190 a0001c0002t0142g0192	7	388	0.0180	20	c.-21 others(35): Show c.-21+943_-21+962dupTTTTTTTTTTTTTTTTTTTT	KRBA2	ENSG00000184619.8	transcript	ENST00000396267.3	protein_coding	1/1			chr17	TogoVar
KREMEN1_chr22_29068035_29151820	29105478	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0010 a0012c0015t0010	a0012c0015t0010g0122 a0012c0015t0010g0122	1	368	0.0027	20	c.352 others(37): Show c.352+6540_352+6559dupACACACACACACACACACAC	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KREMEN1_chr22_29068035_29151820	29131523	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0306 a0001c0005t0014g0306	1	368	0.0027	20	c.632 others(37): Show c.632-5800_632-5781dupATATATATATATATATATAT	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KREMEN1_chr22_29068035_29151820	29131560	A A	ATATATAT others(13): Show ATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0351 a0001c0001t0006g0351	1	368	0.0027	20	c.632 others(37): Show c.632-5781_632-5780insATATATATATGTGTGTGTGT	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KREMEN1_chr22_29068035_29151820	29131560	A A	ATATATAT others(13): Show ATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0350 a0001c0001t0006g0350	1	368	0.0027	20	c.632 others(37): Show c.632-5781_632-5780insATATATATGTGTGTGTGTGT	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KREMEN2_chr16_2959275_2973380	2960043	A A	ACCTACCT others(13): Show ACCTACCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0003 a0006c0016t0003	a0006c0016t0003g0028 a0006c0016t0003g0028	1	434	0.0023	20	c.-44 others(31): Show c.-4478_-4477insCCTACCTTCCTTCCTTCCTT	KREMEN2	ENSG00000131650.15	transcript	ENST00000303746.10	protein_coding		4231		chr16	TogoVar
KRI1_chr19_10548085_10571010	10570547	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03098.hp1 NA18612.hp1 others(1): Show HG02622.hp1 HG03098.hp1 NA18612.hp1 NA18943.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0001 a0003c0010t0005 a0001c0001t0001 a0003c0010t0005	a0001c0001t0001g0001 a0001c0001t0001g0073 a0003c0010t0005g0078 a0001c0001t0001g0001 a0001c0001t0001g0073 a0003c0010t0005g0078	4	406	0.0099	20	c.-45 others(31): Show c.-4549_-4548insTTTTTTTTTTTTTTTTTTTT	KRI1	ENSG00000129347.21	transcript	ENST00000312962.12	protein_coding		4538		chr19	TogoVar
KRT10_chr17_40813117_40827614	40815531	G G	GTATCTAT others(13): Show GTATCTATCTATCTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0024	20	c.29 others(31): Show c.2944_*2945insGATAGATAGATAGATAGATA	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding		2585		chr17	TogoVar
KRT10_chr17_40813117_40827614	40815562	T T	TCTAGCTA others(13): Show TCTAGCTAGCTAGCTAGCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	1	426	0.0024	20	c.29 others(31): Show c.2913_*2914insCTAGCTAGCTAGCTAGCTAG	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding		2554		chr17	TogoVar
KRT10_chr17_40813117_40827614	40815562	T T	TCTATCTA others(13): Show TCTATCTAGCTAGCTAGCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	1	426	0.0024	20	c.29 others(31): Show c.2913_*2914insCTAGCTAGCTAGCTAGATAG	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding		2554		chr17	TogoVar
KRT12_chr17_40856303_40872223	40863953	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01167.hp1 HG01169.hp2 others(5): Show HG01070.hp1 HG01167.hp1 HG01169.hp2 HG02071.hp2 HG02723.hp2 HG02809.hp1 HG03704.hp1 NA18977.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0023 a0001c0001t0001g0032 a0003c0003t0001g0027 a0001c0001t0001g0023 a0001c0001t0001g0032 a0003c0003t0001g0027	8	425	0.0188	20	c.808 others(34): Show c.808-109_808-90dupGTGTGTGTGTGTGTGTGTGT	KRT12	ENSG00000187242.6	transcript	ENST00000251643.5	protein_coding	3/7			chr17	TogoVar

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