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
KDM4C_chr9_6752973_7180648	7052909	G G	GACAGCGA others(42): Show GACAGCGAGCGAGCGAGTGAGTGAGAGATTGTTGTACAGTGGGGTGCTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0045 a0002c0045	a0002c0045t0002 a0002c0045t0002	a0002c0045t0002g0211 a0002c0045t0002g0211	1	266	0.0038	49	c.242 others(68): Show c.2424+3709_2424+3710insACAGCGAGCGAGCGAGTGAGTGAGAG ATTGTTGTACAGTGGGGTGCTTT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	17/21			chr9	TogoVar
KDM4C_chr9_6752973_7180648	7052909	G G	GAGAGCGA others(42): Show GAGAGCGAGAGAGCGAGCGAGCGAGAGATTGTTGTACAGTGGGGTGCTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00735.hp1 others(6): Show HG00323.hp1 HG00423.hp2 HG00735.hp1 HG01361.hp1 HG01433.hp1 HG01928.hp2 HG03471.hp2 HG03710.hp1 HG03834.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0008 a0016	a0001c0001 a0001c0002 a0003c0035 others(4): Show a0001c0001 a0001c0002 a0003c0035 a0004c0005 a0004c0006 a0008c0019 a0016c0030	a0001c0001t0002 a0001c0002t0002 a0001c0002t0006 others(5): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0006 a0003c0035t0007 a0004c0005t0002 a0004c0006t0001 a0008c0019t0005 a0016c0030t0001	a0001c0001t0002g0238 a0001c0002t0002g0014 a0001c0002t0006g0252 others(6): Show a0001c0001t0002g0238 a0001c0002t0002g0014 a0001c0002t0006g0252 a0003c0035t0007g0028 a0004c0005t0002g0037 a0004c0005t0002g0250 a0004c0006t0001g0106 a0008c0019t0005g0112 a0016c0030t0001g0154	9	266	0.0338	49	c.242 others(68): Show c.2424+3709_2424+3710insAGAGCGAGAGAGCGAGCGAGCGAGAG ATTGTTGTACAGTGGGGTGCTTT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	17/21			chr9	TogoVar
KDM6A_chrX_44868188_45117779	45042256	A A	AGGGAGAG others(42): Show AGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0081 a0001c0003t0001g0081	1	199	0.0050	49	c.654 others(66): Show c.654+4570_654+4618dupGAGAGGGGAGAGGGGAGAGGGGAGAGGG GAGAGGGGAGAGGGGAGAGGG	KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	8/29		INFO_REALIGN_3_PRIME	chrX	TogoVar
KHDC1L_chr6_73218544_73230496	73220972	A A	ATTAGACA others(42): Show ATTAGACAGGAGAAGTTACGTGCACCTGTAGTCCCAGCTACTTGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02559.hp1 HG02970.hp1 HG02109.hp1 HG02559.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0004 a0001c0001t0003g0008	3	420	0.0071	49	c.27 others(60): Show c.2775_*2776insGCCTCCCAAGTAGCTGGGACTACAGGTGCACGTA ACTTCTCCTGTCTAA	KHDC1L	ENSG00000256980.5	transcript	ENST00000370388.4	protein_coding		2571		chr6	TogoVar
KHSRP_chr19_6408102_6429811	6429474	A A	AGGAGGGG others(42): Show AGGAGGGGAGGAGGAGGGAGGAGGAGGGAAGGAGGGAGGGGAGGAGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0098 a0001c0001t0007g0098	1	386	0.0026	49	c.-47 others(60): Show c.-4774_-4773insCCTCCTCCTCCCCTCCCTCCTTCCCTCCTCCTCC CTCCTCCTCCCCTCC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4664		chr19	TogoVar
KIAA0319_chr6_24539107_24651191	24579420	T T	TATATATA others(42): Show TATATATATATCATATATATATATATATATATATATATCATATATATATC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0040 a0001c0001t0046g0040	1	300	0.0033	49	c.137 others(66): Show c.1372+437_1372+438insGATATATATATGATATATATATATATAT ATATATATATGATATATATAT	KIAA0319	ENSG00000137261.15	transcript	ENST00000378214.8	protein_coding	8/20			chr6	TogoVar
KIAA1549L_chr11_33371108_33679102	33435798	A A	ATATATAT others(42): Show ATATATATATATATAATATATATATATATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0030 a0001c0009t0030	a0001c0009t0030g0224 a0001c0009t0030g0224	1	226	0.0044	49	c.238 others(68): Show c.238+58922_238+58923insAATATATATATATATGTGTGTGTGTG TGTGTGTGTGTATATATATATAT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1958_chr9_112481827_112674397	112514813	A A	AGCCCCCC others(42): Show AGCCCCCCGCTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03041.hp1 NA18522.hp1 others(2): Show HG02486.hp2 HG03041.hp1 NA18522.hp1 NA18522.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0024 a0001c0002t0014 others(1): Show a0001c0001t0002 a0001c0001t0024 a0001c0002t0014 a0001c0002t0063	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0024g0053 others(2): Show a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0024g0053 a0001c0002t0014g0261 a0001c0002t0063g0010	5	308	0.0162	49	c.-25 others(68): Show c.-25+27704_-25+27705insTCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCGGCCCCCCGC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA2012_chr2_202068255_202210188	202133130	A A	ATATATAT others(42): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0227 a0002c0008t0001g0227	1	312	0.0032	49	c.183 others(68): Show c.1832-5301_1832-5300insATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTTTTTTT	KIAA2012	ENSG00000182329.14	transcript	ENST00000498697.3	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
KIF13B_chr8_29062278_29268070	29228472	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	288	0.0035	49	c.149 others(68): Show c.149+16873_149+16874insATATATATATATATATATATATATAT ATATATATATATTTTTTTTTTTT	KIF13B	ENSG00000197892.13	transcript	ENST00000524189.6	protein_coding	2/39			chr8	TogoVar
KIF25_chr6_167992671_168050091	167997140	G G	GCGGGGGA others(42): Show GCGGGGGAATCTGCAGAGGTGGGGTCGGGGGAATCTGCAGAGATGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03453.hp2 HG03225.hp1 HG03453.hp2	a0003 a0005 a0003 a0005	a0003c0004 a0005c0007 a0003c0004 a0005c0007	a0003c0004t0010 a0005c0007t0010 a0003c0004t0010 a0005c0007t0010	a0003c0004t0010g0018 a0005c0007t0010g0019 a0003c0004t0010g0018 a0005c0007t0010g0019	2	375	0.0053	49	c.-23 others(60): Show c.-2329_-2328insCGGGGGAATCTGCAGAGGTGGGGTCGGGGGAATC TGCAGAGATGGGGGT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		530		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997285	G G	GGGGGCGG others(42): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03579.hp2 HG03453.hp1 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0287 a0001c0003t0015g0288 a0001c0003t0015g0287 a0001c0003t0015g0288	2	375	0.0053	49	c.-21 others(60): Show c.-2184_-2183insGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGG GGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		385		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997457	G G	GGGGGCGG others(42): Show GGGGGCGGGGGAATCTGCAGAGATGGCGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0016 a0006c0008t0016	a0006c0008t0016g0167 a0006c0008t0016g0167	1	375	0.0027	49	c.-20 others(60): Show c.-2012_-2011insGGGGCGGGGGAATCTGCAGAGATGGCGGGGCGGG GGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		213		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997463	T T	TCGGGGGA others(42): Show TCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0113 a0001c0001t0007g0113	1	375	0.0027	49	c.-20 others(60): Show c.-2006_-2005insCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAAT CTGCAGAGATGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		207		chr6	TogoVar
KIF26B_chr1_245149985_245714432	245556348	T T	TCCTCCTC others(42): Show TCCTCCTCCTCTTCTTCTTCCTCCTCCTTCCTCCCTCCTCCTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG01123.hp1 others(2): Show HG00323.hp2 HG00733.hp2 HG01123.hp1 HG01169.hp2 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0081 a0001c0002t0003 a0001c0002t0005 a0001c0002t0081	a0001c0002t0003g0014 a0001c0002t0003g0029 a0001c0002t0003g0032 others(2): Show a0001c0002t0003g0014 a0001c0002t0003g0029 a0001c0002t0003g0032 a0001c0002t0005g0132 a0001c0002t0081g0059	5	160	0.0313	49	c.135 others(70): Show c.1350+15408_1350+15409insTTCTTCTTCCTCCTCCTTCCTCCC TCCTCCTCCTTCCTCCCTCCTCCTC	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF27_chr9_83829099_83926432	83848067	T T	TGATATAT others(42): Show TGATATATATGATATATCATATATGATATATATGATATATCATATATCTG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02132.hp1 HG02155.hp1 others(20): Show HG01928.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 NA18747.hp1 NA18952.hp2 NA18953.hp1 NA18956.hp1 NA18959.hp2 NA18970.hp2 NA18971.hp2 NA18979.hp2 NA18982.hp2 NA18986.hp2 NA18992.hp1 NA18997.hp1 NA19003.hp1 NA19007.hp2 NA19057.hp1 NA19062.hp1 NA19082.hp2 NA19087.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0017 a0001c0002t0001 a0001c0002t0017	a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0088 others(17): Show a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0088 a0001c0002t0001g0198 a0001c0002t0001g0227 a0001c0002t0001g0230 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0243 a0001c0002t0001g0248 a0001c0002t0001g0254 a0001c0002t0001g0256 a0001c0002t0001g0262 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0017g0221	23	346	0.0665	49	c.355 others(68): Show c.3556+2031_3556+2032insCAGATATATGATATATCATATATATC ATATATGATATATCATATATATC	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar
KIF2C_chr1_44734837_44772767	44738054	T T	TTCCCCCT others(42): Show TTCCCCCTCCCCCCTCCCCCCTCCTCCCCCCCTTCTCCCCCTCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0091 a0002c0002t0002g0091	1	374	0.0027	49	c.-18 others(60): Show c.-1879_-1878insTCCCCCTCCCCCCTCCCCCCTCCTCCCCCCCTTC TCCCCCTCCCCCCCC	KIF2C	ENSG00000142945.13	transcript	ENST00000372224.9	protein_coding		1782		chr1	TogoVar
KIF2C_chr1_44734837_44772767	44738054	T T	TTCCCCCT others(42): Show TTCCCCCTCCCCCTCCCCCCCTCCTCCCCCCCCTTCTCCCCCTCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02300.hp2 HG04228.hp2 others(2): Show HG00408.hp1 HG02300.hp2 HG04228.hp2 HG06807.hp2 NA18968.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0002 a0001c0001t0001 a0001c0004t0001 a0002c0002t0002	a0001c0001t0001g0205 a0001c0004t0001g0244 a0002c0002t0002g0020 others(2): Show a0001c0001t0001g0205 a0001c0004t0001g0244 a0002c0002t0002g0020 a0002c0002t0002g0133 a0002c0002t0002g0276	5	374	0.0134	49	c.-18 others(60): Show c.-1879_-1878insTCCCCCTCCCCCTCCCCCCCTCCTCCCCCCCCTT CTCCCCCTCCCCCCC	KIF2C	ENSG00000142945.13	transcript	ENST00000372224.9	protein_coding		1782		chr1	TogoVar
KIF2C_chr1_44734837_44772767	44738055	T T	TCCCCCTC others(42): Show TCCCCCTCCCCCTCCCCCCCTCCTCCCCCCCTTCTCCCCCTCCCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	374	0.0027	49	c.-18 others(60): Show c.-1878_-1877insCCCCCTCCCCCTCCCCCCCTCCTCCCCCCCTTCT CCCCCTCCCCCCCTC	KIF2C	ENSG00000142945.13	transcript	ENST00000372224.9	protein_coding		1781		chr1	TogoVar
KIF2C_chr1_44734837_44772767	44738061	T T	TCCCCCTC others(42): Show TCCCCCTCCCCCCCTCCTCCCCCCCCTTCTCCCCCTCCCCCCTCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	374	0.0027	49	c.-18 others(60): Show c.-1872_-1871insCCCCCTCCCCCCCTCCTCCCCCCCCTTCTCCCCC TCCCCCCTCCCCCTC	KIF2C	ENSG00000142945.13	transcript	ENST00000372224.9	protein_coding		1775		chr1	TogoVar
KIF6_chr6_39324990_39730408	39346132	C C	CCTCTCTC others(42): Show CCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0030 a0003c0003t0030	a0003c0003t0030g0120 a0003c0003t0030g0120	1	174	0.0058	49	c.223 others(66): Show c.2231+343_2232-343insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGGAGAGAGAGAG	KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	20/22			chr6	TogoVar
KLC3_chr19_45335750_45356519	45355815	T T	TTTTTTTT others(42): Show TTTTTTTTTTTTTTTTTTTTAAAGAACCACCTGCTGGTGCTGTTCTAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	434	0.0023	49	c.44 others(60): Show c.4458_*4459insTTTTTTTTTTTTTTTTTTTAAAGAACCACCTGCT GGTGCTGTTCTAAGC	KLC3	ENSG00000104892.17	transcript	ENST00000391946.7	protein_coding		4297		chr19	TogoVar
KLHDC4_chr16_87702812_87770986	87718338	T T	TCCCCCTC others(42): Show TCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0378 a0008c0017t0001g0378	1	380	0.0026	49	c.760 others(66): Show c.760-3766_760-3765insGAGGGAGGGGGAGGGGGAGGGAGGGGGA GGGGGAGGGAGGGGGAGGGGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87726321	G G	GCCGCGCC others(42): Show GCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCGCCCGTCTCCCCACCC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0321 a0003c0003t0001g0321	1	380	0.0026	49	c.759 others(64): Show c.759+443_759+444insGGGTGGGGAGACGGGCGAGGCGCGGGGTGG GGAGACGGGCGAGGCGCGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87726434	T T	TCCCCACC others(42): Show TCCCCACCCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0379 a0003c0003t0007g0379	1	380	0.0026	49	c.759 others(64): Show c.759+330_759+331insGAGACGGGCGAGGCGCGGCGTGGGGAGACG GGCGAGGCGCGGGGTGGGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87726633	G G	GCCGCGCC others(42): Show GCCGCGCCTCGCCCGTCTCCCCACCCCCGCGCCTCGCCCGTCTCCCCACC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	380	0.0026	49	c.759 others(64): Show c.759+131_759+132insGGTGGGGAGACGGGCGAGGCGCGGGGGTGG GGAGACGGGCGAGGCGCGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11			chr16	TogoVar
KLHL41_chr2_169504702_169531258	169505934	A A	ACCCCGTC others(42): Show ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03225.hp1 NA20129.hp2 HG03209.hp1 HG03225.hp1 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0036 a0003c0005t0001g0108 a0003c0005t0001g0036 a0003c0005t0001g0108	3	422	0.0071	49	c.-38 others(60): Show c.-3845_-3844insCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCG	KLHL41	ENSG00000239474.7	transcript	ENST00000284669.2	protein_coding		3767		chr2	TogoVar
KLHL41_chr2_169504702_169531258	169506118	A A	AGGAGGGA others(42): Show AGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03225.hp1 NA20129.hp2 HG03209.hp1 HG03225.hp1 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0036 a0003c0005t0001g0108 a0003c0005t0001g0036 a0003c0005t0001g0108	3	422	0.0071	49	c.-36 others(60): Show c.-3661_-3660insGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCG	KLHL41	ENSG00000239474.7	transcript	ENST00000284669.2	protein_coding		3583		chr2	TogoVar
KLRC1_chr12_10441028_10458377	10443913	T T	TGAAGAAT others(42): Show TGAAGAATATTTCCAGCTTCATAGAAAATGTTCTAACTACAGTTTACCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	440	0.0023	49	c.25 others(60): Show c.2589_*2637dupTAGGTAAACTGTAGTTAGAACATTTTCTATGAAG CTGGAAATATTCTTC	KLRC1	ENSG00000134545.14	transcript	ENST00000359151.8	protein_coding		2114		chr12	TogoVar
KMT2C_chr7_152129925_152441003	152141712	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0004 a0003c0009t0004	a0003c0009t0004g0108 a0003c0009t0004g0108	1	172	0.0058	49	c.143 others(70): Show c.14344-1922_14344-1921insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	55/58			chr7	TogoVar
KRT40_chr17_40972715_40989326	40974710	C C	CTTTCTTC others(42): Show CTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0006 a0006c0006t0002g0006	1	451	0.0022	49	c.34 others(60): Show c.3486_*3487insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAGAAA	KRT40	ENSG00000204889.11	transcript	ENST00000377755.9	protein_coding		3004		chr17	TogoVar
KRT8_chr12_52892191_52910076	52894981	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03704.hp1 others(2): Show HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03831.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0022 a0001c0001t0002g0001 a0001c0001t0002g0022	5	386	0.0130	49	c.24 others(60): Show c.2446_*2447insCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCT TTCTTTCTTTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2209		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894982	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0017 a0003c0006t0001g0017	1	386	0.0026	49	c.24 others(60): Show c.2445_*2446insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2208		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894985	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	386	0.0026	49	c.24 others(60): Show c.2442_*2443insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2205		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894986	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	386	0.0026	49	c.24 others(60): Show c.2441_*2442insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2204		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894989	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02818.hp2 others(1): Show HG02055.hp1 HG02559.hp2 HG02818.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0010 a0001c0002t0001g0011 a0001c0001t0006g0010 a0001c0002t0001g0011	4	386	0.0104	49	c.24 others(60): Show c.2438_*2439insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2201		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894990	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0017 a0003c0006t0001g0017	1	386	0.0026	49	c.24 others(60): Show c.2437_*2438insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2200		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894993	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	386	0.0026	49	c.24 others(60): Show c.2434_*2435insCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCT TTCTTTCTTTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2197		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894993	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	386	0.0026	49	c.24 others(60): Show c.2434_*2435insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCT TTCTTTCTTTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2197		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894994	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	386	0.0026	49	c.24 others(60): Show c.2433_*2434insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2196		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894997	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0023 a0005c0007t0002g0023	1	386	0.0026	49	c.24 others(60): Show c.2430_*2431insCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2193		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894997	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	386	0.0026	49	c.24 others(60): Show c.2430_*2431insCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCT TTCTTTCTTTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2193		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894997	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	386	0.0026	49	c.24 others(60): Show c.2430_*2431insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCT TTCTTTCTTTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2193		chr12	TogoVar
KRT8_chr12_52892191_52910076	52895002	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02165.hp2 HG01070.hp2 HG01071.hp1 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0004 a0001c0002t0001g0006	3	386	0.0078	49	c.24 others(60): Show c.2425_*2426insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2188		chr12	TogoVar
KRTAP2-1_chr17_41041541_41052316	41051410	A A	AATATATT others(42): Show AATATATTATATACAGTAAAATATATATAATATATTATATATAGTAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0000 a0004c0004t0003g0000	1	407	0.0025	49	c.-41 others(60): Show c.-4144_-4143insATTTTACTATATATAATATATTATATATATTTTA CTGTATATAATATAT	KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding		4095		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41051410	A A	AATATATT others(42): Show AATATATTATATACAGTAAAATATATATAATATATTATATATAGTAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0000 a0001c0005t0004g0000	1	411	0.0024	49	c.34 others(60): Show c.3429_*3430insATTTTACTATATATAATATATTATATATATTTTA CTGTATATAATATAT	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding		3087		chr17	TogoVar
KSR2_chr12_117448012_117973990	117947196	A A	AAAGAAAG others(42): Show AAAGAAAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0074 a0001c0002t0074	a0001c0002t0074g0063 a0001c0002t0074g0063	1	196	0.0051	49	c.180 others(68): Show c.180+20879_180+20880insCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTCTCTCTCTCTCTCTTTCTT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	1/19			chr12	TogoVar
LACC1_chr13_43874904_43898932	43879768	G G	GTGAGGCG others(42): Show GTGAGGCGGGGCGAGGTGGGCGAGGTGGGCGAGGTGAGGCGGGGCGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 homoSapiens_chm13v2.hp1 HG04228.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	2	456	0.0044	49	c.-38 others(58): Show c.-386_-385insTGAGGCGGGGCGAGGTGGGCGAGGTGGGCGAGGTGA GGCGGGGCGAGGC	LACC1	ENSG00000179630.11	transcript	ENST00000325686.7	protein_coding		135		chr13	TogoVar
LAMA1_chr18_6936742_7122797	7098703	A A	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCAGCCAGCCGCCCCG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01255.hp2 HG03942.hp2 HG00639.hp2 HG01255.hp2 HG03942.hp2	a0001 a0013 a0038 a0001 a0013 a0038	a0001c0002 a0013c0184 a0038c0200 a0001c0002 a0013c0184 a0038c0200	a0001c0002t0001 a0013c0184t0002 a0038c0200t0001 a0001c0002t0001 a0013c0184t0002 a0038c0200t0001	a0001c0002t0001g0217 a0013c0184t0002g0078 a0038c0200t0001g0251 a0001c0002t0001g0217 a0013c0184t0002g0078 a0038c0200t0001g0251	3	278	0.0108	49	c.62- others(66): Show c.62-18247_62-18246insCGGGGCGGCTGGCTGGGCGGGGGGCTGA CGCCCCCACCTCCCTCCCGGA	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	1/62			chr18	TogoVar
LAMA1_chr18_6936742_7122797	7098703	A A	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCAGCCAGCCGCCGCG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0074 a0074	a0074c0207 a0074c0207	a0074c0207t0002 a0074c0207t0002	a0074c0207t0002g0013 a0074c0207t0002g0013	1	278	0.0036	49	c.62- others(66): Show c.62-18247_62-18246insCGCGGCGGCTGGCTGGGCGGGGGGCTGA CGCCCCCACCTCCCTCCCGGA	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	1/62			chr18	TogoVar

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