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 haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
KMT2C_chr7_152129925_152441003	152385611	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0106 a0001c0003t0001g0106	1	172	0.0058	18	c.162 others(37): Show c.162-26954_162-26937dupTTTTTTTTTTTTTTTTTT		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	1/58						chr7	TogoVar
KMT2E_chr7_105009205_105120019	105071608	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 NA18942.hp2 HG01167.hp1 HG01169.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0128 a0001c0001t0001g0167 a0001c0001t0001g0168	3	304	0.0099	18	c.498 others(35): Show c.498-2010_498-2009insATATATATATATATATTT		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(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18975.hp2 HG03834.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0163 a0001c0001t0001g0142 a0001c0001t0001g0163	2	304	0.0066	18	c.498 others(35): Show c.498-2010_498-2009insATATATATATATATTTTT		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(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01978.hp1 HG02273.hp2 others(1): Show HG01175.hp2 HG01978.hp1 HG02273.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0155 a0001c0001t0001g0160 others(1): Show a0001c0001t0001g0137 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0165	4	304	0.0132	18	c.498 others(35): Show c.498-2010_498-2009insATATATATATATTTTTTT		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(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	328	0.0031	18	c.-76 others(35): Show c.-76-1039_-76-1022dupCACACACACACACACACA		KMT5B	ENSG00000110066.16	transcript	ENST00000304363.9	protein_coding	1/10						chr11	TogoVar
KMT5B_chr11_68149863_68218296	68217730	C C	CCACCACT others(11): Show CCACCACTCAGGTCCAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	328	0.0031	18	c.-46 others(29): Show c.-4670_-4669insACCTGGACCTGAGTGGTG		KMT5B	ENSG00000110066.16	transcript	ENST00000304363.9	protein_coding					4435		chr11	TogoVar
KNDC1_chr10_133155219_133231412	133156816	C C	CACATACA others(11): Show CACATACACAAATACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0146 a0002c0002t0002g0146	1	332	0.0030	18	c.-36 others(29): Show c.-3652_-3651insACATACACAAATACACAT		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding					3402		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133156818	C C	CACATACA others(11): Show CACATACACAAATACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02976.hp1 HG03017.hp2 others(3): Show HG02280.hp2 HG02976.hp1 HG03017.hp2 HG03669.hp1 NA18961.hp1 NA19030.hp1	a0001 a0008 a0010 others(1): Show a0001 a0008 a0010 a0011	a0001c0008 a0008c0014 a0010c0020 others(1): Show a0001c0008 a0008c0014 a0010c0020 a0011c0037	a0001c0008t0001 a0008c0014t0001 a0008c0014t0020 others(2): Show a0001c0008t0001 a0008c0014t0001 a0008c0014t0020 a0010c0020t0002 a0011c0037t0027	a0001c0008t0001g0272 a0008c0014t0001g0273 a0008c0014t0020g0125 others(3): Show a0001c0008t0001g0272 a0008c0014t0001g0273 a0008c0014t0020g0125 a0010c0020t0002g0258 a0010c0020t0002g0259 a0011c0037t0027g0310	6	332	0.0181	18	c.-36 others(29): Show c.-3650_-3649insACATACACAAATACACAT		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding					3400		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133159947	C C	CGCCCCGC others(11): Show CGCCCCGCCCCCCTCCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	332	0.0030	18	c.-52 others(27): Show c.-521_-520insGCCCCGCCCCCCTCCAGG		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding					271		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133159953	G G	GCCCCCTC others(11): Show GCCCCCTCCCGGGCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0003 a0001c0039t0003	a0001c0039t0003g0303 a0001c0039t0003g0303	1	332	0.0030	18	c.-51 others(27): Show c.-515_-514insCCCCCTCCCGGGCCCCGC		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding					265		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133160262	G G	GCGCAGCC others(11): Show GCGCAGCCCCCGCGCCCCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0011 a0011	a0011c0037 a0011c0037	a0011c0037t0027 a0011c0037t0027	a0011c0037t0027g0310 a0011c0037t0027g0310	1	332	0.0030	18	c.-19 others(27): Show c.-192_-191insCCCCCGCAGCCCCCGCGC		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	1/30				191	INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133181833	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp1 HG02080.hp1 others(2): Show HG00408.hp2 HG00673.hp1 HG02080.hp1 HG02280.hp1 HG03942.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0002c0005 a0002c0043 others(1): Show a0002c0002 a0002c0005 a0002c0043 a0008c0014	a0002c0002t0002 a0002c0005t0002 a0002c0043t0002 others(1): Show a0002c0002t0002 a0002c0005t0002 a0002c0043t0002 a0008c0014t0001	a0002c0002t0002g0016 a0002c0005t0002g0025 a0002c0005t0002g0116 others(2): Show a0002c0002t0002g0016 a0002c0005t0002g0025 a0002c0005t0002g0116 a0002c0043t0002g0062 a0008c0014t0001g0262	5	332	0.0151	18	c.361 others(35): Show c.361-1511_361-1510insACACACACACACACACAC		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	3/29						chr10	TogoVar
KNDC1_chr10_133155219_133231412	133181834	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01891.hp1 others(6): Show HG01069.hp2 HG01071.hp1 HG01891.hp1 HG02647.hp2 HG03098.hp2 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA19240.hp2	a0006 a0007 a0006 a0007	a0006c0010 a0007c0009 a0007c0047 a0006c0010 a0007c0009 a0007c0047	a0006c0010t0001 a0007c0009t0001 a0007c0009t0002 others(1): Show a0006c0010t0001 a0007c0009t0001 a0007c0009t0002 a0007c0047t0001	a0006c0010t0001g0019 a0006c0010t0001g0240 a0007c0009t0001g0002 others(6): Show a0006c0010t0001g0019 a0006c0010t0001g0240 a0007c0009t0001g0002 a0007c0009t0001g0104 a0007c0009t0001g0130 a0007c0009t0001g0132 a0007c0009t0001g0133 a0007c0009t0002g0131 a0007c0047t0001g0002	9	332	0.0271	18	c.361 others(35): Show c.361-1500_361-1483dupACACACACACACACACAC		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNG1_chr3_186712359_186749410	186725543	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp2 HG01169.hp2 others(13): Show HG00558.hp2 HG00642.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01258.hp1 HG01361.hp1 HG01934.hp2 HG01952.hp1 HG02572.hp2 HG02622.hp2 HG03834.hp1 HG03927.hp2 NA18972.hp1 NA18980.hp1 NA20300.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0006 a0003c0012 a0002c0002 a0002c0006 a0003c0012	a0002c0002t0001 a0002c0002t0005 a0002c0002t0008 others(3): Show a0002c0002t0001 a0002c0002t0005 a0002c0002t0008 a0002c0002t0032 a0002c0006t0002 a0003c0012t0003	a0002c0002t0001g0043 a0002c0002t0001g0197 a0002c0002t0001g0198 others(11): Show a0002c0002t0001g0043 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0202 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0245 a0002c0002t0005g0044 a0002c0002t0005g0244 a0002c0002t0008g0190 a0002c0002t0032g0254 a0002c0006t0002g0054 a0003c0012t0003g0085	16	430	0.0372	18	c.564 others(33): Show c.564+285_564+302dupTTTTTTTTTTTTTTTTTT		KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
KNSTRN_chr15_40377721_40399288	40397480	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01975.hp1 HG02015.hp1 others(3): Show HG01516.hp2 HG01975.hp1 HG02015.hp1 HG02273.hp2 HG02486.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0002c0002t0001 a0003c0003t0001 a0001c0001t0003 a0002c0002t0001 a0003c0003t0001	a0001c0001t0003g0012 a0002c0002t0001g0006 a0002c0002t0001g0031 others(1): Show a0001c0001t0003g0012 a0002c0002t0001g0006 a0002c0002t0001g0031 a0003c0003t0001g0006	6	374	0.0160	18	c.38 others(29): Show c.3883_*3884insAAAAAAAAAAAAAAAAAA		KNSTRN	ENSG00000128944.14	transcript	ENST00000249776.13	protein_coding					3193		chr15	TogoVar
KNTC1_chr12_122522249_122631396	122541287	G G	GCGCCTGC others(11): Show GCGCCTGCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	320	0.0031	18	c.446 others(33): Show c.446-762_446-761insGCCTGCCTTCCTTCCTTC		KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	5/63					INFO_REALIGN_3_PRIME	chr12	TogoVar
KNTC1_chr12_122522249_122631396	122554076	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	320	0.0031	18	c.127 others(37): Show c.1272+2381_1272+2382insAATATATATATATATATA		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(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02027.hp2 HG02280.hp1 others(17): Show HG01256.hp1 HG02027.hp2 HG02280.hp1 HG03492.hp2 HG03654.hp2 HG03710.hp1 NA18943.hp2 NA18970.hp2 NA18978.hp2 NA18986.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19057.hp2 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19086.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0019 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0019 a0001c0001t0021	a0001c0001t0002g0011 a0001c0001t0002g0191 a0001c0001t0002g0196 others(16): Show a0001c0001t0002g0011 a0001c0001t0002g0191 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0006g0181 a0001c0001t0006g0209 a0001c0001t0006g0223 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0019g0227 a0001c0001t0021g0201	20	400	0.0500	18	c.125 others(37): Show c.1251-2817_1251-2800dupACACACACACACACACAC		KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	12/13						chr3	TogoVar
KPNA1_chr3_122416902_122519939	122431340	A A	AGAGACAA others(11): Show AGAGACAAGGTTTCTCCAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG00741.hp2 others(16): Show HG00280.hp2 HG00735.hp1 HG00741.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01943.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02602.hp1 HG03490.hp2 HG03492.hp1 HG04184.hp2 HG04204.hp2 NA18963.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0018 a0001c0001t0005g0019 others(15): Show a0001c0001t0005g0004 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034	19	400	0.0475	18	c.125 others(37): Show c.1250+2303_1250+2320dupATGGAGAAACCTTGTCTC		KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	12/13						chr3	TogoVar
KPNA1_chr3_122416902_122519939	122496319	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03041.hp2 NA18980.hp1 others(2): Show HG02074.hp1 HG03041.hp2 NA18980.hp1 NA19011.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0303 a0001c0001t0003g0313 a0001c0001t0003g0371 others(2): Show a0001c0001t0003g0303 a0001c0001t0003g0313 a0001c0001t0003g0371 a0001c0001t0003g0372 a0001c0001t0013g0373	5	400	0.0125	18	c.129 others(33): Show c.129+100_129+117dupGTGTGTGTGTGTGTGTGT		KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	2/13						chr3	TogoVar
KPNA1_chr3_122416902_122519939	122496344	A A	ACACACAC others(11): Show ACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03579.hp2 others(1): Show HG02895.hp1 HG02897.hp2 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0006g0165 others(1): Show a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0006g0165 a0001c0001t0006g0168	4	400	0.0100	18	c.129 others(31): Show c.129+92_129+93insGGTGTGTGTGTGTGTGTG		KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	2/13						chr3	TogoVar
KPNA1_chr3_122416902_122519939	122519751	T T	TGCCTCAT others(11): Show TGCCTCATTGATCCACTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	400	0.0025	18	c.-50 others(29): Show c.-5001_-5000insGGAGTGGATCAATGAGGC		KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding					4813		chr3	TogoVar
KPNA2_chr17_68030735_68051854	68051133	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03041.hp2 HG03209.hp2 others(1): Show HG01891.hp1 HG03041.hp2 HG03209.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0074 a0001c0001t0001g0006 a0001c0001t0001g0074	4	340	0.0118	18	c.45 others(29): Show c.4537_*4538insTTTTTTTTTTTTTTTTTT		KPNA2	ENSG00000182481.10	transcript	ENST00000330459.8	protein_coding					4280		chr17	TogoVar
KPNA3_chr13_49694320_49797682	49734954	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0200 a0001c0001t0005g0200	1	376	0.0027	18	c.115 others(35): Show c.115-1926_115-1909dupCTCTCTCTCTCTCTCTCT		KPNA3	ENSG00000102753.10	transcript	ENST00000261667.8	protein_coding	2/16						chr13	TogoVar
KPNA4_chr3_160490007_160570571	160556385	T T	TTTTCTCA others(11): Show TTTTCTCAATCAACCTGTA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	308	0.0033	18	c.69+ others(33): Show c.69+8828_69+8829insTACAGGTTGATTGAGAAA		KPNA4	ENSG00000186432.10	transcript	ENST00000334256.9	protein_coding	1/16						chr3	TogoVar
KPNA5_chr6_116676211_116746867	116726061	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0305 a0001c0001t0056g0305	1	344	0.0029	18	c.112 others(35): Show c.1125+190_1125+207dupGTGTGTGTGTGTGTGTGT		KPNA5	ENSG00000196911.12	transcript	ENST00000368564.7	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
KPNA5_chr6_116676211_116746867	116732074	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	344	0.0029	18	c.143 others(33): Show c.1433-31_1433-14dupTATATATATATATATATA		KPNA5	ENSG00000196911.12	transcript	ENST00000368564.7	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
KPNA5_chr6_116676211_116746867	116732074	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02809.hp1 HG02809.hp2 others(1): Show HG00741.hp2 HG02809.hp1 HG02809.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0038 a0001c0001t0004 a0001c0001t0014 a0001c0001t0038	a0001c0001t0004g0312 a0001c0001t0014g0296 a0001c0001t0014g0299 others(1): Show a0001c0001t0004g0312 a0001c0001t0014g0296 a0001c0001t0014g0299 a0001c0001t0038g0153	4	344	0.0116	18	c.143 others(33): Show c.1433-61_1433-60insTTATATATATATATATAT		KPNA5	ENSG00000196911.12	transcript	ENST00000368564.7	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
KPNA6_chr1_32103056_32181563	32119032	A A	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0004 a0001c0001t0015g0004	1	244	0.0041	18	c.4+1 others(33): Show c.4+10899_4+10900insATATTTTTTTTTTTTTTT		KPNA6	ENSG00000025800.14	transcript	ENST00000373625.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
KPNA6_chr1_32103056_32181563	32119032	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0005 a0001c0001t0015g0005	1	244	0.0041	18	c.4+1 others(33): Show c.4+10915_4+10916insTTTTTTTTTTTTTTTTTT		KPNA6	ENSG00000025800.14	transcript	ENST00000373625.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
KPNA7_chr7_99168572_99213115	99180859	G G	GTCTCTCT others(11): Show GTCTCTCTCTCTCCCCGTC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18984.hp2 NA18952.hp1 NA18984.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	2	334	0.0060	18	c.131 others(37): Show c.1317+1023_1317+1024insGACGGGGAGAGAGAGAGA		KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10						chr7	TogoVar
KPNA7_chr7_99168572_99213115	99181085	C C	CTCTCTCT others(11): Show CTCTCTCTCTCCGTCTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0003 a0003c0008t0001g0003	2	334	0.0060	18	c.131 others(35): Show c.1317+780_1317+797dupCACAGACGGAGAGAGAGA		KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10						chr7	TogoVar
KPNB1_chr17_47644919_47690505	47675361	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA18984.hp2 HG01258.hp1 NA18984.hp2	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0005 a0001c0008t0002 a0001c0004t0005 a0001c0008t0002	a0001c0004t0005g0180 a0001c0008t0002g0228 a0001c0004t0005g0180 a0001c0008t0002g0228	2	384	0.0052	18	c.191 others(35): Show c.1912+589_1912+590insTTTTTTTTTTTTTTTTTT		KPNB1	ENSG00000108424.11	transcript	ENST00000290158.9	protein_coding	15/21					INFO_REALIGN_3_PRIME	chr17	TogoVar
KPTN_chr19_47470150_47489219	47478567	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0112 a0001c0005t0001g0112	1	378	0.0027	18	c.788 others(33): Show c.788-804_788-787dupTTTTTTTTTTTTTTTTTT		KPTN	ENSG00000118162.14	transcript	ENST00000338134.8	protein_coding	8/11						chr19	TogoVar
KRAS_chr12_25200246_25255929	25202063	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0266 a0001c0001t0012g0266	1	346	0.0029	18	c.78 others(29): Show c.7835_*7852dupTTTTTTTTTTTTTTTTTT		KRAS	ENSG00000133703.14	transcript	ENST00000256078.10	protein_coding					3182		chr12	TogoVar
KRAS_chr12_25200246_25255929	25225286	T T	TTATTTTT others(11): Show TTATTTTTATATATATATA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03579.hp1 HG02273.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0002 a0001c0001t0029	a0001c0001t0002g0267 a0001c0001t0029g0096 a0001c0001t0002g0267 a0001c0001t0029g0096	2	346	0.0058	18	c.450 others(33): Show c.450+327_450+328insTATATATATATAAAAATA		KRAS	ENSG00000133703.14	transcript	ENST00000256078.10	protein_coding	4/5						chr12	TogoVar
KRAS_chr12_25200246_25255929	25249591	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01099.hp1 HG02683.hp2 others(2): Show HG00280.hp2 HG01099.hp1 HG02683.hp2 HG03654.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0285 a0001c0001t0004g0006 a0001c0001t0004g0284 a0001c0001t0001g0285 a0001c0001t0004g0006 a0001c0001t0004g0284	5	346	0.0145	18	c.-12 others(35): Show c.-12+1159_-12+1160insTTTTTTTTTTTTTTTTTT		KRAS	ENSG00000133703.14	transcript	ENST00000256078.10	protein_coding	1/5						chr12	TogoVar
KRBA1_chr7_149709951_149739575	149738211	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	414	0.0024	18	c.41 others(29): Show c.4164_*4165insAAAAAAAAATATATATAT		KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding					3637		chr7	TogoVar
KRBA2_chr17_8353822_8381704	8374937	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0100 a0004c0006t0002g0100	1	388	0.0026	18	c.-21 others(33): Show c.-21+945_-21+962dupTTTTTTTTTTTTTTTTTT		KRBA2	ENSG00000184619.8	transcript	ENST00000396267.3	protein_coding	1/1						chr17	TogoVar
KREMEN1_chr22_29068035_29151820	29094572	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0294 a0001c0001t0035g0294	1	368	0.0027	18	c.260 others(33): Show c.260+178_260+195dupCACACACACACACACACA		KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr22	TogoVar
KREMEN1_chr22_29068035_29151820	29105478	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03017.hp1 HG02155.hp2 HG03017.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0010 a0003c0004t0007 a0003c0004t0010	a0003c0004t0007g0134 a0003c0004t0010g0163 a0003c0004t0007g0134 a0003c0004t0010g0163	2	368	0.0054	18	c.352 others(35): Show c.352+6542_352+6559dupACACACACACACACACAC		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(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0305 a0001c0005t0014g0305	1	368	0.0027	18	c.632 others(35): Show c.632-5798_632-5781dupATATATATATATATATAT		KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr22	TogoVar
KRI1_chr19_10548085_10571010	10570547	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0109 a0001c0020t0001g0109	1	406	0.0025	18	c.-45 others(29): Show c.-4549_-4548insTTTTTTTTTTTTTTTTTT		KRI1	ENSG00000129347.21	transcript	ENST00000312962.12	protein_coding					4538		chr19	TogoVar
KRT12_chr17_40856303_40872223	40863953	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01884.hp1 HG02055.hp2 others(15): Show HG00423.hp2 HG01884.hp1 HG02055.hp2 HG02074.hp1 HG02622.hp1 HG02683.hp2 HG02738.hp1 HG02976.hp1 HG03831.hp2 NA18612.hp1 NA18948.hp1 NA18954.hp1 NA18972.hp2 NA18987.hp2 NA19004.hp2 NA19080.hp2 NA19082.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0057 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0063 a0002c0002t0001g0085	18	425	0.0424	18	c.808 others(32): Show c.808-107_808-90dupGTGTGTGTGTGTGTGTGT		KRT12	ENSG00000187242.6	transcript	ENST00000251643.5	protein_coding	3/7						chr17	TogoVar
KRT18_chr12_52944118_52957906	52953837	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01884.hp1 HG02055.hp1 others(8): Show HG00438.hp2 HG01884.hp1 HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02630.hp2 HG03130.hp2 HG03490.hp1 HG03492.hp1 HG03704.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	11	406	0.0271	18	c.99 others(27): Show c.995_*996insTTTTTTTTTTTTTTTTTT		KRT18	ENSG00000111057.11	transcript	ENST00000388835.4	protein_coding					932		chr12	TogoVar
KRT20_chr17_40870889_40890242	40881227	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0063 a0002c0003t0002g0063	1	451	0.0022	18	c.474 others(33): Show c.474-475_474-458dupCACACACACACACACACA		KRT20	ENSG00000171431.4	transcript	ENST00000167588.4	protein_coding	2/7						chr17	TogoVar
KRT23_chr17_40917700_40942646	40942362	C C	CCCTCCTC others(11): Show CCCTCCTCCTCCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02257.hp1 NA20805.hp2 HG01069.hp1 HG02257.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0078 a0001c0001t0002g0035 a0001c0001t0002g0078	3	437	0.0069	18	c.-53 others(29): Show c.-5368_-5367insAGGGGGAGGAGGAGGAGG		KRT23	ENSG00000108244.17	transcript	ENST00000209718.8	protein_coding					4717		chr17	TogoVar
KRT2_chr12_52639558_52657211	52640889	A A	AATATATA others(11): Show AATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	466	0.0022	18	c.41 others(29): Show c.4129_*4130insATATATATATATATATAT		KRT2	ENSG00000172867.4	transcript	ENST00000309680.4	protein_coding					3668		chr12	TogoVar
KRT2_chr12_52639558_52657211	52651831	A A	ACCTCCAA others(11): Show ACCTCCAAAGCCGCTGCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00323.hp1 HG00438.hp1 HG00544.hp2 others(150): Show HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp2 HG01255.hp1 HG01515.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG03490.hp2 HG03688.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0002 a0007 a0010 a0002 a0007 a0010	a0002c0001 a0002c0019 a0002c0023 others(2): Show a0002c0001 a0002c0019 a0002c0023 a0007c0011 a0010c0018	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(6): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0010 a0002c0001t0011 a0002c0019t0001 a0002c0023t0001 a0007c0011t0001 a0010c0018t0001	a0002c0001t0001g0001 a0002c0001t0001g0005 a0002c0001t0001g0019 others(18): Show a0002c0001t0001g0001 a0002c0001t0001g0005 a0002c0001t0001g0019 a0002c0001t0001g0035 a0002c0001t0001g0036 a0002c0001t0001g0037 a0002c0001t0001g0069 a0002c0001t0001g0070 a0002c0001t0001g0075 a0002c0001t0001g0079 a0002c0001t0002g0013 a0002c0001t0002g0077 a0002c0001t0003g0010 a0002c0001t0003g0073 a0002c0001t0010g0076 a0002c0001t0011g0074 a0002c0019t0001g0072 a0002c0023t0001g0102 a0007c0011t0001g0038 a0007c0011t0001g0078 a0010c0018t0001g0071	153	466	0.3283	18	c.311 others(25): Show c.311_312insCGGCAGCGGCTTTGGAGG	p.Gly others(31): Show p.Gly104_Gly105insGlySerGlyPheGlyGly	KRT2	ENSG00000172867.4	transcript	ENST00000309680.4	protein_coding	1/9	380/2450	311/1920	104/639			chr12	TogoVar
KRT39_chr17_40953417_40971948	40970522	A A	ATCTCTCT others(11): Show ATCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02922.hp1 HG02970.hp2 others(7): Show HG02451.hp2 HG02922.hp1 HG02970.hp2 HG03486.hp1 HG03516.hp1 NA18992.hp1 NA18998.hp2 NA19086.hp1 NA20129.hp1 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0006 a0004c0005 a0002c0002 a0002c0006 a0004c0005	a0002c0002t0002 a0002c0006t0002 a0002c0006t0005 others(1): Show a0002c0002t0002 a0002c0006t0002 a0002c0006t0005 a0004c0005t0003	a0002c0002t0002g0004 a0002c0006t0002g0006 a0002c0006t0002g0031 others(2): Show a0002c0002t0002g0004 a0002c0006t0002g0006 a0002c0006t0002g0031 a0002c0006t0005g0016 a0004c0005t0003g0089	10	423	0.0236	18	c.-36 others(29): Show c.-3667_-3666insGAGAGAGAGAGAGAGAGA		KRT39	ENSG00000196859.8	transcript	ENST00000355612.7	protein_coding					3575		chr17	TogoVar

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