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
KIFAP3_chr1_169916329_170079695	169973122	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02523.hp1 HG03579.hp2 HG02145.hp1 HG02523.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0003g0216 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0003g0216	3	355	0.0085	40	c.189 others(57): Show c.1898-525_1898-524insTTATATATATATATATATATATATATAT ATATATATATAT	KIFAP3	ENSG00000075945.13	transcript	ENST00000361580.7	protein_coding	16/19			chr1	TogoVar
KIFBP_chr10_68983803_69021982	69008391	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	109	0.0092	40	c.790 others(55): Show c.790-449_790-448insAAAAAAAAAAAAAAAATATATATATATATA TATATATATA	KIFBP	ENSG00000198954.9	transcript	ENST00000361983.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIRREL3_chr11_126418358_127005770	126821351	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03041.hp2 NA19070.hp2 HG00738.hp1 HG03041.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0001	a0001c0001t0002g0090 a0001c0002t0002g0044 a0001c0003t0001g0078 a0001c0001t0002g0090 a0001c0002t0002g0044 a0001c0003t0001g0078	3	76	0.0395	40	c.55+ others(59): Show c.55+179103_55+179104insCACATATATATATATATATATATATA TATATATATATATA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KISS1_chr1_204185341_204201491	204200299	G G	GTGTGTGT others(33): Show GTGTGTGTGTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 NA18906.hp1 HG02970.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0006 a0001c0001t0012	a0001c0001t0006g0084 a0001c0001t0012g0046 a0001c0001t0006g0084 a0001c0001t0012g0046	2	88	0.0227	40	c.-39 others(51): Show c.-3963_-3962insTATATATATATATATATATATATATATATATACA CACACA	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding		3809		chr1	TogoVar
KISS1_chr1_204185341_204201491	204200299	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0059 a0002c0002t0006g0059	1	87	0.0115	40	c.-39 others(51): Show c.-3963_-3962insTATATATATATATATATATATATATATATACACA CACACA	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding		3809		chr1	TogoVar
KLB_chr4_39401930_39456533	39443827	A A	ATATTTTT others(33): Show ATATTTTTTACTTTGTTTTCATTAAAAATCCTCCTAAATTC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0265 a0001c0003t0001g0265	1	378	0.0026	40	c.160 others(59): Show c.1606-2504_1606-2503insATTTTTTACTTTGTTTTCATTAAAAA TCCTCCTAAATTCT	KLB	ENSG00000134962.7	transcript	ENST00000257408.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(33): Show AAAAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	26	0.0385	40	c.22 others(51): Show c.2297_*2298insAAAAAAAAATATATATATATATATATATATATAT ATATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	26	0.0385	40	c.22 others(51): Show c.2297_*2298insAAAAATATATATATATATATATATATATATATAT ATATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHL1_chr13_69695597_70113452	69855404	A A	AGATACAG others(33): Show AGATACAGATAGAGATAGAGACAGAGATAGAGATAGACAGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01358.hp1 others(17): Show HG00735.hp2 HG00738.hp1 HG01358.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02615.hp1 HG02622.hp2 HG02809.hp1 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03516.hp1 HG06807.hp2 NA19043.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0008 a0003c0009 a0005c0005	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(9): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0002t0012 a0001c0002t0022 a0001c0002t0025 a0001c0003t0002 a0001c0003t0006 a0002c0008t0001 a0003c0009t0023 a0005c0005t0006	a0001c0001t0002g0040 a0001c0001t0002g0077 a0001c0001t0002g0094 others(17): Show a0001c0001t0002g0040 a0001c0001t0002g0077 a0001c0001t0002g0094 a0001c0001t0006g0042 a0001c0001t0006g0068 a0001c0001t0006g0080 a0001c0001t0006g0081 a0001c0001t0008g0037 a0001c0001t0008g0043 a0001c0001t0008g0061 a0001c0001t0008g0075 a0001c0001t0009g0153 a0001c0002t0012g0173 a0001c0002t0022g0172 a0001c0002t0025g0182 a0001c0003t0002g0093 a0001c0003t0006g0044 a0002c0008t0001g0100 a0003c0009t0023g0179 a0005c0005t0006g0030	20	168	0.1190	40	c.122 others(61): Show c.1228-16243_1228-16242insACTGTCTATCTCTATCTCTGTCTC TATCTCTATCTGTATC	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	5/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	69939340	C C	CATATATA others(33): Show CATATATATATATATATATATACATATACATACATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	87	0.0115	40	c.101 others(57): Show c.1014+699_1014+700insATATATATGTATGTATATGTATATATAT ATATATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	4/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	70024620	T T	TTCTCTCT others(33): Show TTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0149 a0001c0001t0007g0149	1	17	0.0588	40	c.498 others(59): Show c.498-48819_498-48818insGAGAGAGAGAGAGAGAGAGAGAAAGA GAGAGAGAGAGAGA	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	1/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	70094393	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0164 a0001c0001t0007g0164	1	133	0.0075	40	c.497 others(59): Show c.497+12809_497+12810insTATATATATATATATATATATATATA TATATATATATATA	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	1/10			chr13	TogoVar
KLHL23_chr2_169728832_169756878	169740766	T T	TAATATAT others(33): Show TAATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	100	0.0100	40	c.121 others(57): Show c.1214-619_1214-618insAATATATATATATATATATATATATATA TATATATATATA	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3			chr2	TogoVar
KLHL28_chr14_44919324_44966947	44935890	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp2 HG01433.hp2 others(7): Show HG00099.hp1 HG01256.hp2 HG01433.hp2 HG02004.hp2 HG02145.hp1 HG02809.hp1 HG03516.hp2 HG03540.hp1 NA18993.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0084 others(6): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0084 a0001c0001t0003g0058 a0001c0001t0003g0089 a0001c0001t0006g0017 a0001c0001t0006g0097 a0001c0001t0013g0100 a0001c0001t0014g0102	10	84	0.1190	40	c.900 others(57): Show c.900-1333_900-1332insTATATATATATATATATATATATATATA TATATATATATA	KLHL28	ENSG00000179454.14	transcript	ENST00000396128.9	protein_coding	2/4			chr14	TogoVar
KLHL29_chr2_23380179_23713606	23670917	G G	GCGCGCGC others(33): Show GCGCGCGCACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	57	0.0175	40	c.941 others(59): Show c.941-13481_941-13480insGCGCGCACTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC	KLHL29	ENSG00000119771.15	transcript	ENST00000486442.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL2_chr4_165202561_165328147	165264704	G G	GTGTGTAT others(33): Show GTGTGTATATATATATATATACATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	193	0.0052	40	c.544 others(57): Show c.544+1346_544+1347insGTGTATATATATATATATACATATATAT ATATATATATAT	KLHL2	ENSG00000109466.14	transcript	ENST00000226725.11	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
KLHL30_chr2_238133668_238157947	238144432	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGCAGGC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	283	0.0035	40	c.908 others(55): Show c.908-467_908-466insAAGGAAGGAAGGAAGGAAAGAAGGAAGGAA GGCAGGCAGG	KLHL30	ENSG00000168427.9	transcript	ENST00000409223.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL31_chr6_53642916_53670756	53665964	A A	AAAAGAAA others(33): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAGAAGGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0005 a0001c0002t0004g0005	1	347	0.0029	40	c.-39 others(49): Show c.-398_-397insCTTTCCTTCTTTCTTTCTTTTCTTTTCTTTTCTTTT CTTT	KLHL31	ENSG00000124743.6	transcript	ENST00000370905.4	protein_coding		209		chr6	TogoVar
KLHL31_chr6_53642916_53670756	53666076	G G	GAGAAAGA others(33): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	126	0.0079	40	c.-51 others(49): Show c.-510_-509insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	KLHL31	ENSG00000124743.6	transcript	ENST00000370905.4	protein_coding		321		chr6	TogoVar
KLHL3_chr5_137612500_137741089	137682403	T T	TAGAGAGA others(33): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01169.hp1 HG01169.hp2 HG00597.hp1 HG01169.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0005 a0001c0001t0002 a0001c0003t0005	a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0003t0005g0097 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0003t0005g0097	3	10	0.3000	40	c.527 others(57): Show c.527-4750_527-4749insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCT	KLHL3	ENSG00000146021.15	transcript	ENST00000309755.9	protein_coding	5/14			chr5	TogoVar
KLHL41_chr2_169504702_169531258	169505485	G G	GCCGCCAT others(33): Show GCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	420	0.0024	40	c.-42 others(51): Show c.-4294_-4293insCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCT TCCCAC	KLHL41	ENSG00000239474.7	transcript	ENST00000284669.2	protein_coding		4216		chr2	TogoVar
KLHL6_chr3_183482551_183560706	183534114	T T	TTAAAAGT others(33): Show TTAAAAGTACTTTACTTTTAAAGTACTTTGTACTTTTAAAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03225.hp1 HG01433.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0073 a0001c0003t0013 a0001c0003t0073	a0001c0003t0013g0093 a0001c0003t0073g0026 a0001c0003t0013g0093 a0001c0003t0073g0026	2	277	0.0072	40	c.294 others(57): Show c.294-6105_294-6104insCTTTAAAAGTACAAAGTACTTTAAAAGT AAAGTACTTTTA	KLHL6	ENSG00000172578.12	transcript	ENST00000341319.8	protein_coding	1/6			chr3	TogoVar
KLK10_chr19_51007739_51024709	51020198	C C	CAGAGAGA others(33): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02738.hp1 HG02083.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0025 a0001c0002t0002 a0001c0003t0025	a0001c0002t0002g0011 a0001c0003t0025g0151 a0001c0002t0002g0011 a0001c0003t0025g0151	2	277	0.0072	40	c.-58 others(49): Show c.-582_-581insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	KLK10	ENSG00000129451.12	transcript	ENST00000358789.8	protein_coding		490		chr19	TogoVar
KLK11_chr19_51017236_51031616	51020198	C C	CAGAGAGA others(33): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02738.hp2 HG02083.hp1 HG02738.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0083 a0002c0002t0001g0005 a0001c0001t0001g0083 a0002c0002t0001g0005	2	277	0.0072	40	c.23 others(51): Show c.2346_*2347insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	KLK11	ENSG00000167757.14	transcript	ENST00000453757.8	protein_coding		2037		chr19	TogoVar
KLK4_chr19_50901351_50916395	50902925	C C	CTCCCCTC others(33): Show CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	412	0.0024	40	c.40 others(51): Show c.4008_*4009insAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGA	KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding		3425		chr19	TogoVar
KLK4_chr19_50901351_50916395	50902930	C C	CTCCCCTC others(33): Show CTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTACCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02486.hp2 NA19030.hp2 HG02258.hp2 HG02486.hp2 NA19030.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0047 a0003c0005t0002g0115 a0003c0005t0002g0047 a0003c0005t0002g0115	3	412	0.0073	40	c.40 others(51): Show c.4003_*4004insAGGGAGGGTAGGGGAGGGGAAGGGAGGGGAGGGG AGGGGA	KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding		3420		chr19	TogoVar
KLRB1_chr12_9589551_9612916	9607325	C C	CTCTTCTT others(33): Show CTCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0265 a0002c0002t0001g0265	1	416	0.0024	40	c.85+ others(53): Show c.85+429_85+430insAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAGA	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607326	T T	TTCTTTTC others(33): Show TTCTTTTCTTTCTCTTTCTTCCTTCCTTTCTTTCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	429	0.0023	40	c.85+ others(53): Show c.85+428_85+429insGAAGGAAGAAAGAAAGGAAGGAAGAAAGAGAA AGAAAAGA	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTCCTT others(33): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG04184.hp1 HG06807.hp1 others(2): Show HG01261.hp1 HG04184.hp1 HG06807.hp1 NA18974.hp2 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0262 a0002c0002t0001g0263 others(1): Show a0002c0002t0001g0042 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264	5	226	0.0221	40	c.85+ others(53): Show c.85+419_85+420insAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAG GAAGGAAG	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTCCTT others(33): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02698.hp1 HG04199.hp2 others(1): Show HG01255.hp1 HG02698.hp1 HG04199.hp2 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0046 a0002c0002t0001g0209 a0002c0002t0001g0210	4	225	0.0178	40	c.85+ others(53): Show c.85+419_85+420insAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAG GAAGGAAG	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTCCTT others(33): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0247 a0002c0002t0001g0247	1	222	0.0045	40	c.85+ others(53): Show c.85+419_85+420insAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAG GAAGGAAG	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTCCTT others(33): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0205 a0002c0002t0001g0205	1	222	0.0045	40	c.85+ others(53): Show c.85+419_85+420insAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG GAAGGAAG	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTTCTT others(33): Show CCTTTCTTTCTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00735.hp2 others(7): Show HG00280.hp2 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG02004.hp1 HG02004.hp2 NA18960.hp2 NA18961.hp1 NA18990.hp1 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0007 a0001c0001 a0002c0002 a0005c0007	a0001c0001t0002 a0002c0002t0001 a0005c0007t0001 a0001c0001t0002 a0002c0002t0001 a0005c0007t0001	a0001c0001t0002g0024 a0001c0001t0002g0078 a0001c0001t0002g0079 others(6): Show a0001c0001t0002g0024 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0084 a0002c0002t0001g0071 a0002c0002t0001g0080 a0002c0002t0001g0081 a0005c0007t0001g0082	10	231	0.0433	40	c.85+ others(53): Show c.85+419_85+420insAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAG AAAGAAAG	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KMT2C_chr7_152129925_152441003	152215688	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03041.hp1 NA21309.hp1 HG00639.hp1 HG03041.hp1 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0020 a0002c0004t0002g0025 a0002c0004t0002g0026 a0002c0004t0002g0020 a0002c0004t0002g0025 a0002c0004t0002g0026	3	115	0.0261	40	c.371 others(59): Show c.3712+4834_3712+4835insGTGTGTGTGTGTATATATATATATAT ATATATATATATAT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	23/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152215688	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19004.hp1 NA19068.hp2 NA18977.hp1 NA19004.hp1 NA19068.hp2	a0002 a0018 a0002 a0018	a0002c0011 a0018c0021 a0002c0011 a0018c0021	a0002c0011t0002 a0018c0021t0007 a0002c0011t0002 a0018c0021t0007	a0002c0011t0002g0054 a0002c0011t0002g0077 a0018c0021t0007g0013 a0002c0011t0002g0054 a0002c0011t0002g0077 a0018c0021t0007g0013	3	115	0.0261	40	c.371 others(59): Show c.3712+4834_3712+4835insGTGTGTATATATATATATATATATAT ATATATATATATAT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	23/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152215688	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA18994.hp1 HG01928.hp2 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0072 a0002c0002t0002g0080 a0002c0002t0002g0072 a0002c0002t0002g0080	2	114	0.0175	40	c.371 others(59): Show c.3712+4834_3712+4835insGTGTATATATATATATATATATATAT ATATATATATATAT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	23/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152297019	A A	AAGAAAGA others(33): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0002 a0012c0020t0002	a0012c0020t0002g0060 a0012c0020t0002g0060	1	170	0.0059	40	c.849 others(59): Show c.849+12946_849+12947insGTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152297027	A A	AAGAAAGA others(33): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0024 a0002c0004t0002g0024	1	168	0.0060	40	c.849 others(59): Show c.849+12938_849+12939insGTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KNDC1_chr10_133155219_133231412	133187884	C C	CGAGCCCG others(33): Show CGAGCCCGCCCCCTGCACCCCGTCCCGCCCTCCACCTCCAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0210 a0001c0004t0002g0210	1	330	0.0030	40	c.132 others(57): Show c.1327-649_1327-610dupCGCCCCCTGCACCCCGTCCCGCCCTCCA CCTCCATGAGCC	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133223322	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGAGAGCCCATCCAGCCATGCTCTTCCCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0238 a0002c0002t0001g0238	1	288	0.0035	40	c.501 others(59): Show c.5019-1324_5019-1323insAGAGCCCATCCAGCCATGCTCTTCCC AGTGTGTGTGTGTG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNTC1_chr12_122522249_122631396	122541287	G G	GCCTGCCT others(33): Show GCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0127 a0002c0003t0001g0127	1	80	0.0125	40	c.446 others(55): Show c.446-760_446-759insGCCTGCCTGCCTGCCTGCCTGCCTGCCTGC CTTCCTTCCT	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(33): Show GCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0271 a0009c0015t0001g0271	1	80	0.0125	40	c.446 others(55): Show c.446-760_446-759insGCCTGCCTGCCTGCCTTCCTTCCTTCCTTC CTTCCTTCCT	KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	5/63		INFO_REALIGN_3_PRIME	chr12	TogoVar
KPNA1_chr3_122416902_122519939	122452564	G G	GGGAGGGA others(33): Show GGGAGGGAAGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0323 a0001c0001t0034g0323	1	333	0.0030	40	c.565 others(55): Show c.565-501_565-500insTTCCTTCCTTCCTTCCTTCCTTCCTTCCCT CCTTCCCTCC	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	6/13			chr3	TogoVar
KPNA1_chr3_122416902_122519939	122452564	G G	GGGAGGGA others(33): Show GGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0298	1	333	0.0030	40	c.565 others(55): Show c.565-501_565-500insTTCCTTCCTTCCTTCCTTCCCTCCTTCCCT CCTTCCCTCC	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	6/13			chr3	TogoVar
KPNA1_chr3_122416902_122519939	122452572	G G	GGGAGGGA others(33): Show GGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0345 a0001c0001t0003g0345	1	195	0.0051	40	c.565 others(55): Show c.565-509_565-508insTTCCTTCCTTCCTTCCTTCCCTCCTTCCCT CCCTCCCTCC	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	6/13			chr3	TogoVar
KRBA1_chr7_149709951_149739575	149738218	A A	ATATATAT others(33): Show ATATATATATATATATATCTATATCTATCTATCTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG02723.hp2 HG02895.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0032 a0006c0008t0003g0046 a0006c0008t0003g0032 a0006c0008t0003g0046	2	412	0.0049	40	c.41 others(51): Show c.4171_*4172insTATATATATATATATATCTATATCTATCTATCTA TCTATC	KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding		3644		chr7	TogoVar
KREMEN1_chr22_29068035_29151820	29131718	G G	GTATATAT others(33): Show GTATATATATGTATATATGTGTATATATATGTATATATGTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01928.hp1 HG01993.hp1 HG00621.hp2 HG01928.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0171 a0001c0001t0012g0172 a0001c0001t0012g0339 a0001c0001t0012g0171 a0001c0001t0012g0172 a0001c0001t0012g0339	3	366	0.0082	40	c.632 others(57): Show c.632-5606_632-5567dupGTGTATATATATGTATATATGTATATAT ATATGTATATAT	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KRT40_chr17_40972715_40989326	40974458	G G	GTTTCTTT others(33): Show GTTTCTTTCTATCTCTCTCTCTTTCTTTCTTTCTCTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0006 a0006c0006t0002g0006	1	393	0.0025	40	c.37 others(51): Show c.3738_*3739insGAAAGAGAGAAAGAAAGAAAGAGAGAGAGATAGA AAGAAA	KRT40	ENSG00000204889.11	transcript	ENST00000377755.9	protein_coding		3256		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG02027.hp1 HG01943.hp2 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	255	0.0078	40	c.-11 others(51): Show c.-1137_-1136insTTTCCTTCTTTCTTTCTTTCTTTCCTTTCTTTCT TTCTTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGAAA others(33): Show GAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAGGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	254	0.0039	40	c.-11 others(51): Show c.-1137_-1136insTTTCTTTCCTTCTTTCTTTCTTTCTTTCCTTTCT TTCTTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar

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