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
HIGD1C_chr12_50947544_50975607	50948889	G G	GGGGAGGG others(88): Show GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	380	0.0026	95	c.-38 others(106): Show c.-3890_-3889insGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3654		chr12	TogoVar
HIVEP1_chr6_12007312_12169999	12167636	T T	TTACATGT others(88): Show TTACATGTATATATACATGTTATATTACATGTATATATACATGTTATATT ACATGTATATATACATGTTATATTACATGTATATATACATGTTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG00738.hp2 others(27): Show HG00408.hp1 HG00642.hp1 HG00738.hp2 HG01109.hp1 HG01258.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG02257.hp1 HG02258.hp2 HG02559.hp2 HG02717.hp1 HG02895.hp2 HG03130.hp2 HG03195.hp2 HG03516.hp1 HG03834.hp1 NA18612.hp1 NA18949.hp1 NA18951.hp1 NA18956.hp2 NA18964.hp1 NA18970.hp1 NA18972.hp1 NA18992.hp2 NA18999.hp1 NA19003.hp2	a0002 a0019 a0035 a0002 a0019 a0035	a0002c0002 a0002c0007 a0019c0030 others(1): Show a0002c0002 a0002c0007 a0019c0030 a0035c0022	a0002c0002t0001 a0002c0002t0008 a0002c0007t0001 others(2): Show a0002c0002t0001 a0002c0002t0008 a0002c0007t0001 a0019c0030t0001 a0035c0022t0001	a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0023 others(27): Show a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0034 a0002c0002t0001g0049 a0002c0002t0001g0066 a0002c0002t0001g0093 a0002c0002t0001g0142 a0002c0002t0001g0161 a0002c0002t0001g0164 a0002c0002t0001g0211 a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0241 a0002c0002t0001g0260 a0002c0002t0001g0306 a0002c0002t0001g0309 a0002c0002t0001g0323 a0002c0002t0001g0331 a0002c0002t0008g0226 a0002c0007t0001g0010 a0019c0030t0001g0287 a0035c0022t0001g0009	30	344	0.0872	95	c.31 others(106): Show c.3175_*3176insTACATGTATATATACATGTTATATTACATGTATA TATACATGTTATATTACATGTATATATACATGTTATATTACATGTATATA TACATGTTATA	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		2638		chr6	TogoVar
HIVEP1_chr6_12007312_12169999	12167661	T T	TTACATGT others(88): Show TTACATGTATATATACATGTTATATTACATGTATATATACATGTTATATT ACATGTATATATACATGTTATATTACATGTATATATACATGTTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	344	0.0029	95	c.32 others(106): Show c.3200_*3201insTACATGTATATATACATGTTATATTACATGTATA TATACATGTTATATTACATGTATATATACATGTTATATTACATGTATATA TACATGTTATA	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		2663		chr6	TogoVar
HMCN1_chr1_185729391_186195949	186005287	A A	AATTTTTT others(88): Show AATTTTTTAATTGTTTATAAATGTTTATAAACAATTTTTTAATTGTTTAT AAATGTTTATAAACAATTTTTTAATTGTTTATAAATGTTTATAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0005 a0009c0010t0001g0005	1	92	0.0109	95	c.447 others(114): Show c.4475+1444_4475+1445insTTTTTTAATTGTTTATAAATGTTTAT AAACAATTTTTTAATTGTTTATAAATGTTTATAAACAATTTTTTAATTGT TTATAAATGTTTATAAACA	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	29/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMOX1_chr22_35376096_35399207	35389339	T T	TTTCTTTC others(88): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	384	0.0026	95	c.637 others(110): Show c.637-524_637-523insTCTTTCTTTCTTTCTTTCTTTCTTTTTCTT TCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTCTCTCTCTCTCT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
HMOX1_chr22_35376096_35399207	35389340	T T	TTCTTTCT others(88): Show TTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	384	0.0026	95	c.637 others(110): Show c.637-524_637-523insTCTTTCTTTCTTTCTTTCTTTCTTTTTCTT TCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTCTCTCTCTCTTC	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4			chr22	TogoVar
HNF1B_chr17_37681431_37750059	37729966	C C	CCCTGCTC others(88): Show CCCTGCTCCCTGTCCCTCCAGCCCTAGCTCTCTGGGTCTCCTGTCAGCAC CTGCTCCCTGTCCCTCCAGCCCTAGCTCCCTGCTGGGTTTCCAGCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG00735.hp2 others(58): Show HG00140.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01981.hp1 HG01993.hp1 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03239.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp1 NA18962.hp1 NA18962.hp2 NA19004.hp1 NA19030.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0002t0009	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 others(58): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0160 a0001c0001t0001g0199 a0001c0001t0001g0212 a0001c0001t0001g0259 a0001c0001t0001g0342 a0001c0001t0001g0388 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0147 a0001c0001t0002g0198 a0001c0001t0002g0205 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0260 a0001c0001t0002g0398 a0001c0001t0003g0018 a0001c0001t0003g0023 a0001c0001t0003g0161 a0001c0001t0003g0217 a0001c0001t0003g0272 a0001c0001t0003g0333 a0001c0001t0003g0403 a0001c0001t0004g0021 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0258 a0001c0001t0005g0012 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0204 a0001c0001t0005g0208 a0001c0001t0005g0218 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0295 a0001c0001t0005g0343 a0001c0001t0005g0348 a0001c0001t0005g0387 a0001c0001t0005g0389 a0001c0001t0005g0395 a0001c0001t0005g0396 a0001c0001t0006g0246 a0001c0001t0006g0286 a0001c0001t0006g0287 a0001c0001t0006g0341 a0001c0001t0007g0201 a0001c0001t0008g0017 a0001c0001t0008g0020 a0001c0001t0008g0025 a0001c0001t0009g0008 a0001c0001t0014g0277 a0001c0001t0018g0257 a0001c0001t0021g0407 a0001c0002t0009g0221 a0001c0002t0009g0265	61	409	0.1491	95	c.104 others(114): Show c.1045+1628_1045+1629insTGCTGGAAACCCAGCAGGGAGCTAGG GCTGGAGGGACAGGGAGCAGGTGCTGACAGGAGACCCAGAGAGCTAGGGC TGGAGGGACAGGGAGCAGG	HNF1B	ENSG00000275410.6	transcript	ENST00000617811.5	protein_coding	4/8			chr17	TogoVar
HOXA3_chr7_27102010_27157583	27114817	A A	ATATATAT others(88): Show ATATATATATAATATATATTATATATATTATATATATTATATATATTATA TATATTATATATTATATATATAATATATATTATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0295 a0001c0001t0012g0295	1	326	0.0031	95	c.-12 others(114): Show c.-120-4058_-120-4057insATATATATTATATATAATATATATTA TATATATAATATATAATATATATAATATATATAATATATATAATATATAT AATATATATTATATATATA	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	4/5			chr7	TogoVar
HOXC8_chr12_54003985_54017769	54014001	T T	TCTCCTCT others(88): Show TCTCCTCTCTTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCCCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0001 a0001c0001t0016g0001	1	306	0.0033	95	c.26 others(106): Show c.2620_*2621insCTCCTCTCTTCTCCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCCCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1233		chr12	TogoVar
HSD17B14_chr19_48808018_48841491	48810605	G G	GGAGGTCT others(88): Show GGAGGTCTGGGCCCCTTTATTCCAGCTCCCGCACAGGCTGATGCCCCACC GCACCCCAGGGCTCCGCTCCCCAAATCACAACCTCCCCACCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	394	0.0025	95	c.24 others(106): Show c.2475_*2569dupGTGGGGGTGGGGAGGTTGTGATTTGGGGAGCGGA GCCCTGGGGTGCGGTGGGGCATCAGCCTGTGCGGGAGCTGGAATAAAGGG GCCCAGACCTC	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding		2412		chr19	TogoVar
IFITM10_chr11_1727406_1755595	1754533	A A	AGGGATGG others(88): Show AGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGAGATGGAGGGTCAT GAAGAGTCACAGAGGGATGAGGGGATGGAGGGATGGAGGGATGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	406	0.0025	95	c.-40 others(106): Show c.-4092_-4091insCTCCATCCCTCCATCCCTCCATCCCCTCATCCCT CTGTGACTCTTCATGACCCTCCATCTCCTCCATCCCTCCATCCCCTCCAT CCCTCCATCCC	IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding		3939		chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33322704	A A	AATATATA others(88): Show AATATATATATGGAATATATATATACGGAATATATATATAATATATATAC GGAATATATATATATAATATATATATGGAATATATATATACGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0017 a0001c0001t0015g0017	1	323	0.0031	95	c.-23 others(106): Show c.-2352_-2351insATATATATATGGAATATATATATACGGAATATAT ATATAATATATATACGGAATATATATATATAATATATATATGGAATATAT ATATACGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2265		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323136	T T	TATATATA others(88): Show TATATATATGGAATATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATATGGAATATATATATGGAATATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0098 a0001c0005t0013g0098	1	323	0.0031	95	c.-19 others(106): Show c.-1920_-1919insATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATATGGAATATATATATGGAATAT ATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1833		chr21	TogoVar
IL33_chr9_6210807_6262983	6218675	C C	CATATATA others(88): Show CATATATATATGTTCTCCATATATATATATGTTCTCCATATATATATATG TTCTCCATATATATATATGTTCTCCATATATATATATGTTCTCCAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19070.hp2 NA18951.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0210 a0001c0002t0002g0211	2	362	0.0055	95	c.-12 others(112): Show c.-12+2889_-12+2983dupATGTTCTCCATATATATATATGTTCTCC ATATATATATATGTTCTCCATATATATATATGTTCTCCATATATATATAT GTTCTCCATATATATAT	IL33	ENSG00000137033.12	transcript	ENST00000682010.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
IMPA1_chr8_81651914_81691325	81684771	G G	GTATATAT others(88): Show GTATATATATACTACACATAAGTATATATACTACACATAAGTATATATAC TACACATAAGTATATATACTACACATAAGTATATATACTACACATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0062 a0001c0001t0004g0062	1	380	0.0026	95	c.-25 others(112): Show c.-25+1480_-25+1481insTATGTGTAGTATATATACTTATGTGTAG TATATATACTTATGTGTAGTATATATACTTATGTGTAGTATATATACTTA TGTGTAGTATATATATA	IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding	1/8			chr8	TogoVar
INPP5D_chr2_233055342_233212903	233144607	G G	GGTGATGG others(88): Show GGTGATGGTGATGGTGGAGGTGGTTATGATCATGGTGGGAGTGATGGGGT AGAGATGGTGGTGGTGATGGTGATGGTGAGGGTGAAGGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0150 a0001c0005t0002g0150	1	310	0.0032	95	c.754 others(112): Show c.754-1472_754-1471insAAGGTGGTGGTAGTGATGGTGATGGTGG AGGTGGTTATGATCATGGTGGGAGTGATGGGGTAGAGATGGTGGTGGTGA TGGTGATGGTGAGGGTG	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
IRS2_chr13_109747695_109791583	109765934	C C	CCAACTCC others(88): Show CCAACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCTTGGCTC CTCCTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02572.hp2 HG01074.hp2 HG02572.hp2	a0001 a0001	a0001c0007 a0001c0018 a0001c0007 a0001c0018	a0001c0007t0026 a0001c0018t0026 a0001c0007t0026 a0001c0018t0026	a0001c0007t0026g0059 a0001c0018t0026g0048 a0001c0007t0026g0059 a0001c0018t0026g0048	2	398	0.0050	95	c.401 others(114): Show c.4013-9627_4013-9626insCCAGGGTGGATGAGGCTGGGATATCT ACATGCTTGGTGGGGAGGAGGAGCCAAGGTGGATGAGGCTGGGATATCTA CATGCTTGGTGGGGAGTTG	IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/1			chr13	TogoVar
ISOC2_chr19_55447985_55466642	55459270	C C	CAAATGTT others(88): Show CAAATGTTTTCTATGTGCACCATATCTCAAGTTTAAAAACGAATAAATGG TTAAAATGGTCAATTTTATGTTGTGCAAATTTTATCTCATTAAATA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	380	0.0026	95	c.-4+ others(110): Show c.-4+2147_-4+2241dupTATTTAATGAGATAAAATTTGCACAACATA AAATTGACCATTTTAACCATTTATTCGTTTTTAAACTTGAGATATGGTGC ACATAGAAAACATTT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding	1/5			chr19	TogoVar
ITPR2_chr12_26330352_26838194	26772491	C C	CATGTATT others(88): Show CATGTATTATATATATAATATATATAATACATGTATTATATATAATACAT TATTATATATAATACATGTATTATATATATAATACATGTATTATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0038 a0003c0038	a0003c0038t0009 a0003c0038t0009	a0003c0038t0009g0012 a0003c0038t0009g0012	1	142	0.0070	95	c.163 others(114): Show c.163+17665_163+17666insATATAATACATGTATTATATATATAA TACATGTATTATATATAATAATGTATTATATATAATACATGTATTATATA TATTATATATATAATACAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITSN2_chr2_24197864_24365536	24264675	T T	TGTCGAAA others(88): Show TGTCGAAAATCTGTTGTTTATACACACACACACACACACACACACACACA CACACAAACACACGTAGCATGAATCTATTTACCTACTCTGTTCCAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02280.hp1 HG02486.hp1	a0003 a0004 a0003 a0004	a0003c0016 a0004c0004 a0003c0016 a0004c0004	a0003c0016t0001 a0004c0004t0001 a0003c0016t0001 a0004c0004t0001	a0003c0016t0001g0201 a0004c0004t0001g0006 a0003c0016t0001g0201 a0004c0004t0001g0006	2	224	0.0089	95	c.235 others(114): Show c.2356-2934_2356-2933insGTGGAACAGAGTAGGTAAATAGATTC ATGCTACGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA TAAACAACAGATTTTCGAC	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	20/39			chr2	TogoVar
JAKMIP1_chr4_6021199_6205549	6067579	G G	GCACTCAA others(88): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCTGAGCTCCAGGTTCA CTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18966.hp1 NA18998.hp2 NA18942.hp2 NA18966.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0103 a0001c0001t0001g0148 a0001c0001t0001g0059 a0001c0001t0001g0103 a0001c0001t0001g0148	3	233	0.0129	95	c.130 others(114): Show c.1303-2572_1303-2571insAACCTGGAGCTCAGGGGGGTGACCTG TGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGT GTGCAGAAGAGCTTGAGTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JARID2_chr6_15241069_15527042	15469354	T T	TCCTCCCC others(88): Show TCCTCCCCTTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03540.hp2 HG03710.hp1 others(2): Show HG03516.hp1 HG03540.hp2 HG03710.hp1 NA18977.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0021 others(1): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0021 a0001c0002t0030	a0001c0002t0001g0129 a0001c0002t0001g0176 a0001c0002t0006g0073 others(2): Show a0001c0002t0001g0129 a0001c0002t0001g0176 a0001c0002t0006g0073 a0001c0002t0021g0175 a0001c0002t0030g0275	5	284	0.0176	95	c.670 others(110): Show c.670+637_670+638insCTCCCCTTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCTCCCCC	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNJ6_chr21_37602373_37921457	37712483	T T	TCTCTTCC others(88): Show TCTCTTCCCTCCCTCCTCCTCCCTCCCTCCTCCCCTTCTCCTCCTCTCCT TCCTCCCTTTCTCTTCCCTCCCTCCTCCCCTCCTCCTCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp2 others(26): Show HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01243.hp2 HG01433.hp1 HG01891.hp2 HG02040.hp2 HG02083.hp2 HG02132.hp1 HG02165.hp2 HG03017.hp2 HG04204.hp2 NA18939.hp2 NA18944.hp2 NA18957.hp1 NA18963.hp2 NA19000.hp1 NA19001.hp1 NA19012.hp1 NA19055.hp1 NA19057.hp1 NA19062.hp1 NA19064.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0112 a0001c0003t0015 a0001c0003t0048 others(26): Show a0001c0001t0112 a0001c0003t0015 a0001c0003t0048 a0001c0003t0051 a0001c0003t0069 a0001c0003t0079 a0001c0003t0100 a0001c0003t0111 a0001c0003t0113 a0001c0003t0114 a0001c0003t0115 a0001c0003t0116 a0001c0003t0117 a0001c0003t0118 a0001c0003t0120 a0001c0003t0121 a0001c0003t0124 a0001c0003t0126 a0001c0003t0127 a0001c0003t0128 a0001c0003t0129 a0001c0003t0130 a0001c0003t0131 a0001c0003t0132 a0001c0003t0134 a0001c0003t0135 a0001c0004t0007 a0001c0004t0016 a0001c0004t0154	a0001c0001t0112g0131 a0001c0003t0015g0182 a0001c0003t0048g0082 others(26): Show a0001c0001t0112g0131 a0001c0003t0015g0182 a0001c0003t0048g0082 a0001c0003t0051g0005 a0001c0003t0069g0112 a0001c0003t0079g0038 a0001c0003t0100g0064 a0001c0003t0111g0077 a0001c0003t0113g0071 a0001c0003t0114g0116 a0001c0003t0115g0111 a0001c0003t0116g0065 a0001c0003t0117g0177 a0001c0003t0118g0121 a0001c0003t0120g0027 a0001c0003t0121g0125 a0001c0003t0124g0078 a0001c0003t0126g0035 a0001c0003t0127g0036 a0001c0003t0128g0153 a0001c0003t0129g0114 a0001c0003t0130g0185 a0001c0003t0131g0013 a0001c0003t0132g0181 a0001c0003t0134g0028 a0001c0003t0135g0122 a0001c0004t0007g0115 a0001c0004t0016g0186 a0001c0004t0154g0190	29	198	0.1465	95	c.946 others(112): Show c.946+1727_946+1728insGAGGGAGAGAGGAGGAGGGGAGGAGGGA GGGAAGAGAAAGGGAGGAAGGAGAGGAGGAGAAGGGGAGGAGGGAGGGAG GAGGAGGGAGGGAAGAG	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNQ2_chr20_63395208_63477655	63445726	G G	GCCCTGTC others(88): Show GCCCTGTCTGAGCTGGGAGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAG CTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp2 HG01175.hp1 others(8): Show HG00642.hp2 HG01099.hp2 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01934.hp2 HG02486.hp1 HG03471.hp1 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0011 a0001c0002 a0002c0001 a0002c0011	a0001c0002t0025 a0001c0002t0080 a0002c0001t0005 others(3): Show a0001c0002t0025 a0001c0002t0080 a0002c0001t0005 a0002c0001t0021 a0002c0001t0066 a0002c0011t0018	a0001c0002t0025g0210 a0001c0002t0080g0235 a0002c0001t0005g0212 others(7): Show a0001c0002t0025g0210 a0001c0002t0080g0235 a0002c0001t0005g0212 a0002c0001t0005g0213 a0002c0001t0021g0217 a0002c0001t0021g0218 a0002c0001t0066g0216 a0002c0011t0018g0005 a0002c0011t0018g0214 a0002c0011t0018g0215	11	330	0.0333	95	c.388 others(110): Show c.388-363_388-362insTCCCCCAGCTCAGACAGGGTCCCCCAGCTC AGACAGGGTCCCCCAGCTCAGACAGGGCCTCCCAGCTCAGACAGGGTCTC CCAGCTCAGACAGGG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	2/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63445992	A A	ACCCTGTC others(88): Show ACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAG CTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(61): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01256.hp1 HG01258.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02738.hp1 HG03239.hp1 HG04184.hp2 NA18612.hp2 NA18939.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18952.hp2 NA18964.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18990.hp2 NA18999.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19064.hp2 NA19074.hp1 NA19081.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0015	a0001c0003 a0001c0008 a0001c0009 others(4): Show a0001c0003 a0001c0008 a0001c0009 a0002c0006 a0002c0018 a0005c0025 a0015c0034	a0001c0003t0003 a0001c0003t0010 a0001c0003t0013 others(23): Show a0001c0003t0003 a0001c0003t0010 a0001c0003t0013 a0001c0003t0017 a0001c0003t0029 a0001c0003t0094 a0001c0003t0100 a0001c0003t0102 a0001c0003t0103 a0001c0003t0104 a0001c0003t0106 a0001c0003t0107 a0001c0003t0108 a0001c0008t0027 a0001c0008t0028 a0001c0008t0099 a0001c0009t0003 a0001c0009t0098 a0002c0006t0001 a0002c0006t0016 a0002c0006t0037 a0002c0006t0039 a0002c0006t0101 a0002c0018t0038 a0005c0025t0097 a0015c0034t0105	a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0274 others(61): Show a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0274 a0001c0003t0003g0278 a0001c0003t0003g0279 a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0286 a0001c0003t0003g0288 a0001c0003t0003g0298 a0001c0003t0003g0306 a0001c0003t0003g0316 a0001c0003t0003g0317 a0001c0003t0010g0178 a0001c0003t0010g0207 a0001c0003t0010g0209 a0001c0003t0010g0251 a0001c0003t0013g0292 a0001c0003t0013g0299 a0001c0003t0013g0300 a0001c0003t0013g0302 a0001c0003t0013g0303 a0001c0003t0017g0313 a0001c0003t0017g0319 a0001c0003t0017g0320 a0001c0003t0017g0321 a0001c0003t0017g0322 a0001c0003t0029g0273 a0001c0003t0029g0307 a0001c0003t0094g0016 a0001c0003t0100g0268 a0001c0003t0102g0267 a0001c0003t0103g0301 a0001c0003t0104g0287 a0001c0003t0106g0311 a0001c0003t0107g0275 a0001c0003t0108g0263 a0001c0008t0027g0276 a0001c0008t0027g0310 a0001c0008t0027g0312 a0001c0008t0028g0277 a0001c0008t0028g0285 a0001c0008t0028g0289 a0001c0008t0099g0280 a0001c0009t0003g0262 a0001c0009t0003g0281 a0001c0009t0003g0294 a0001c0009t0003g0314 a0001c0009t0098g0261 a0002c0006t0001g0159 a0002c0006t0016g0270 a0002c0006t0016g0272 a0002c0006t0016g0297 a0002c0006t0016g0309 a0002c0006t0016g0318 a0002c0006t0037g0269 a0002c0006t0037g0271 a0002c0006t0039g0305 a0002c0006t0101g0308 a0002c0018t0038g0290 a0002c0018t0038g0291 a0005c0025t0097g0260 a0015c0034t0105g0293	64	330	0.1939	95	c.388 others(110): Show c.388-629_388-628insCCTCCCAGCTCAGACAGGGCCTCCCAGCTC AGACAGGGTCCCCCAGCTCAGACAGGGCCTCCCAGCTCAGACAGGGTCCC CCAGCTCAGACAGGG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	2/16			chr20	TogoVar
KHSRP_chr19_6408102_6429811	6429100	T T	TATATATA others(88): Show TATATATAATATATATATTATATATATGTTATATATATTATATATATGTT ATATATATATTACATATATATAATATATATATTATATATATGTTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG04228.hp2 HG03239.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0027 a0001c0001t0013g0054 a0001c0001t0013g0027 a0001c0001t0013g0054	2	386	0.0052	95	c.-44 others(106): Show c.-4400_-4399insGTAACATATATATAATATATATATTATATATATG TAATATATATATAACATATATATAATATATATAACATATATATAATATAT ATATTATATAT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4290		chr19	TogoVar
KIF16B_chr20_16267104_16578448	16395221	G G	GGAGAGGG others(88): Show GGAGAGGGGAGGAGAGGGGAGGCCAAGGGAGGGGAGGGGAGGGGAGGAGA GGGGAGGCCAAGGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGCCAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03453.hp1 HG02896.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0177 a0001c0001t0002g0096 a0001c0001t0002g0177	2	250	0.0080	95	c.178 others(114): Show c.1784+9591_1784+9592insTTGGCCTCCCCTCTCCTCTCCTCCCC TCCCCTCCCTTGGCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCTTGGCC TCCCCTCTCCTCCCCTCTC	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	17/25			chr20	TogoVar
KIF17_chr1_20659014_20723007	20712608	A A	ATATATAA others(88): Show ATATATAATATAGATAATATTATCTATATATAATATAGATATTATCTATA TATAATATAGATAATATTATCTATATATAATATAGATAATATTATC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02895.hp2 others(2): Show HG02622.hp2 HG02630.hp2 HG02895.hp2 HG02970.hp2 HG03579.hp2	a0001 a0008 a0001 a0008	a0001c0068 a0008c0020 a0008c0069 a0001c0068 a0008c0020 a0008c0069	a0001c0068t0001 a0008c0020t0007 a0008c0020t0015 others(1): Show a0001c0068t0001 a0008c0020t0007 a0008c0020t0015 a0008c0069t0002	a0001c0068t0001g0296 a0008c0020t0007g0293 a0008c0020t0007g0294 others(2): Show a0001c0068t0001g0296 a0008c0020t0007g0293 a0008c0020t0007g0294 a0008c0020t0015g0295 a0008c0069t0002g0292	5	414	0.0121	95	c.480 others(110): Show c.480+845_480+846insGATAATATTATCTATATTATATATAGATAA TATTATCTATATTATATATAGATAATATCTATATTATATATAGATAATAT TATCTATATTATATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF17_chr1_20659014_20723007	20712738	A A	AATATAGA others(88): Show AATATAGATAATATTATCTATATATAATATAGATAATATTATCTATATAT ATAATATAGATAATATTATCTATATATATAATATAGATAATATTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(84): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02109.hp1 HG02129.hp2 HG02258.hp2 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG03927.hp1 HG04228.hp1 HG06807.hp1 NA18961.hp2 NA18965.hp2 NA18975.hp1 NA18981.hp1 NA18982.hp2 NA19005.hp1 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19065.hp2 NA19079.hp2 NA19089.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0007 a0008 a0010 a0011 a0016 a0018 a0022 a0040 a0042	a0001c0001 a0001c0004 a0001c0028 others(34): Show a0001c0001 a0001c0004 a0001c0028 a0001c0038 a0001c0039 a0001c0047 a0001c0066 a0001c0134 a0001c0140 a0001c0142 a0002c0016 a0002c0023 a0002c0036 a0002c0082 a0003c0011 a0003c0026 a0003c0029 a0003c0065 a0003c0093 a0003c0135 a0003c0137 a0004c0006 a0004c0027 a0004c0041 a0004c0056 a0004c0092 a0004c0136 a0007c0101 a0008c0012 a0008c0133 a0010c0033 a0011c0034 a0016c0061 a0018c0064 a0022c0062 a0040c0103 a0042c0088	a0001c0001t0001 a0001c0001t0002 a0001c0004t0005 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0005 a0001c0028t0001 a0001c0028t0008 a0001c0038t0001 a0001c0039t0002 a0001c0047t0001 a0001c0066t0001 a0001c0134t0001 a0001c0140t0001 a0001c0142t0002 a0002c0016t0001 a0002c0023t0001 a0002c0036t0001 a0002c0082t0001 a0003c0011t0001 a0003c0011t0002 a0003c0026t0001 a0003c0026t0002 a0003c0029t0001 a0003c0065t0001 a0003c0093t0001 a0003c0135t0002 a0003c0137t0001 a0004c0006t0001 a0004c0027t0001 a0004c0041t0001 a0004c0056t0001 a0004c0092t0001 a0004c0136t0006 a0007c0101t0001 a0008c0012t0001 a0008c0012t0002 a0008c0012t0007 a0008c0133t0001 a0010c0033t0001 a0011c0034t0001 a0016c0061t0001 a0018c0064t0001 a0022c0062t0001 a0040c0103t0001 a0042c0088t0001	a0001c0001t0001g0017 a0001c0001t0001g0189 a0001c0001t0001g0190 others(84): Show a0001c0001t0001g0017 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0227 a0001c0004t0005g0395 a0001c0004t0005g0396 a0001c0028t0001g0021 a0001c0028t0001g0022 a0001c0028t0008g0201 a0001c0038t0001g0222 a0001c0038t0001g0232 a0001c0039t0002g0206 a0001c0039t0002g0216 a0001c0047t0001g0111 a0001c0066t0001g0235 a0001c0134t0001g0361 a0001c0140t0001g0342 a0001c0142t0002g0341 a0002c0016t0001g0198 a0002c0016t0001g0203 a0002c0016t0001g0214 a0002c0016t0001g0221 a0002c0023t0001g0020 a0002c0023t0001g0025 a0002c0023t0001g0218 a0002c0023t0001g0219 a0002c0036t0001g0023 a0002c0036t0001g0223 a0002c0082t0001g0016 a0003c0011t0001g0187 a0003c0011t0001g0188 a0003c0011t0001g0225 a0003c0011t0002g0047 a0003c0026t0001g0382 a0003c0026t0001g0386 a0003c0026t0002g0384 a0003c0026t0002g0385 a0003c0029t0001g0230 a0003c0065t0001g0027 a0003c0093t0001g0234 a0003c0135t0002g0373 a0003c0137t0001g0371 a0004c0006t0001g0048 a0004c0006t0001g0204 a0004c0006t0001g0209 a0004c0006t0001g0220 a0004c0006t0001g0224 a0004c0006t0001g0226 a0004c0027t0001g0343 a0004c0041t0001g0228 a0004c0056t0001g0360 a0004c0056t0001g0381 a0004c0092t0001g0231 a0004c0136t0006g0380 a0007c0101t0001g0032 a0008c0012t0001g0369 a0008c0012t0001g0370 a0008c0012t0001g0374 a0008c0012t0001g0375 a0008c0012t0001g0387 a0008c0012t0002g0362 a0008c0012t0002g0372 a0008c0012t0007g0363 a0008c0133t0001g0377 a0010c0033t0001g0359 a0010c0033t0001g0376 a0011c0034t0001g0378 a0011c0034t0001g0379 a0011c0034t0001g0383 a0016c0061t0001g0015 a0018c0064t0001g0026 a0022c0062t0001g0014 a0040c0103t0001g0233 a0042c0088t0001g0215	87	414	0.2101	95	c.480 others(110): Show c.480+715_480+716insATAATATTATCTATATTATATATATAGATA ATATTATCTATATTATATATATAGATAATATTATCTATATTATATATAGA TAATATTATCTATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KLHL1_chr13_69695597_70113452	69931029	T T	TTACTATC others(88): Show TTACTATCATATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	182	0.0055	95	c.101 others(114): Show c.1014+9010_1014+9011insTCGCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAATATATGATAGTA	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	4/10			chr13	TogoVar
KLHL23_chr2_169728832_169756878	169738990	C C	CCCTCCTC others(88): Show CCCTCCTCCCCCTCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCCC CCTCCTCCCCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCTGCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0065 a0001c0001t0029g0065	1	400	0.0025	95	c.121 others(114): Show c.1214-2394_1214-2393insCTCCTCCCCCTCTCCCCCTCCTCCCC CCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCCT CCCTCTCCTCCCCCTGCTC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
LCN15_chr9_136754634_136769518	136769232	C C	CCCGCCAC others(88): Show CCCGCCACCCCTCCATGCACTGCCCCCCCGCCACCCCCCCCATGCACTGC CCCCCCGCCACCCCGCCACCCCTCCATGCACTGCCCCCCGCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	356	0.0028	95	c.-47 others(106): Show c.-4745_-4744insTGGTGGCGGGGGGCAGTGCATGGAGGGGTGGCGG GGTGGCGGGGGGGCAGTGCATGGGGGGGGTGGCGGGGGGGCAGTGCATGG AGGGGTGGCGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4715		chr9	TogoVar
LCP2_chr5_170241233_170302777	170278386	C C	CGAGGGGG others(88): Show CGAGGGGGATGGGAGTGCAGGGGTGGGGGGCGGGGGGGGATGGGAGTGCA GGGGTGGGGGGCTGGGGGGATGGGAGTGCAGGGGTGGGGGGCTGGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	384	0.0026	95	c.189 others(112): Show c.189-2527_189-2526insACCAGCCCCCCACCCCTGCACTCCCATC CCCCCAGCCCCCCACCCCTGCACTCCCATCCCCCCCCGCCCCCCACCCCT GCACTCCCATCCCCCTC	LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	3/20			chr5	TogoVar
LCP2_chr5_170241233_170302777	170278469	T T	TGGGGGGC others(88): Show TGGGGGGCTGGTGAGGGGGATGGGAGTGCAGGGGTGGGGGGCGGGGGGGA TGGGAGTGCAGGGGTGGGGGGCTGGGGGGATGGGAGTGCAGGGGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02922.hp2 HG03471.hp1 others(1): Show HG00639.hp2 HG02922.hp2 HG03471.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 others(1): Show a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0006g0232	4	384	0.0104	95	c.189 others(112): Show c.189-2610_189-2609insCACCCCTGCACTCCCATCCCCCCAGCCC CCCACCCCTGCACTCCCATCCCCCCCGCCCCCCACCCCTGCACTCCCATC CCCCTCACCAGCCCCCC	LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	3/20			chr5	TogoVar
LHPP_chr10_124456823_124619141	124506896	G G	GTAGGGAG others(88): Show GTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTAGGGGGTA GGGAGGATAGCAGGTGGAGAGGTAGACAGGATTTCAGGTTGGGGGA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	260	0.0039	95	c.624 others(112): Show c.624+8785_624+8786insGGGGGGGTAGGGAGGATTTCAGGTAGGG GGTAGGGAGGATAGCAGGTGGAGAGGTAGACAGGATTTCAGGTTGGGGGA TAGGGAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LIG4_chr13_108202442_108220536	108215427	C C	CACCTCCC others(88): Show CACCTCCCAACCCCCCACCCCCCCCGCCCCCACCTCCCAACCCCCCACCC CCCCGCCCCCACCTCCCAACCCCCCACCCCCCCCCCGCCCCCACCT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	374	0.0027	95	c.-10 others(110): Show c.-102+56_-102+57insAGGTGGGGGCGGGGGGGGGGTGGGGGGTTG GGAGGTGGGGGCGGGGGGGTGGGGGGTTGGGAGGTGGGGGCGGGGGGGGT GGGGGGTTGGGAGGT	LIG4	ENSG00000174405.15	transcript	ENST00000442234.6	protein_coding	1/2			chr13	TogoVar
LIMK1_chr7_74078804_74127525	74126471	C C	CAAAAAAA others(88): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0009 a0002c0006t0001g0009	1	302	0.0033	95	c.51 others(106): Show c.5170_*5171insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	LIMK1	ENSG00000106683.15	transcript	ENST00000336180.7	protein_coding		3947		chr7	TogoVar
LIPM_chr10_88797730_88825546	88808910	C C	CATTTTAT others(88): Show CATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	462	0.0022	95	c.265 others(110): Show c.265+555_265+556insATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTT	LIPM	ENSG00000173239.14	transcript	ENST00000404743.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGTTG others(88): Show CAGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	294	0.0034	95	c.153 others(114): Show c.1530-3001_1530-3000insTGCACACCCCTCCCGAGACACCACTG CACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGTGACAACACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858855	A A	ACGGGACG others(88): Show ACGGGACGGATGTGAGTGGTGTCTCGAGACGGGTGTGCAGTGATGTCTCG GGACGGGTGTGCACTGATGTCACGGGACGGGTGTGCAGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02451.hp2 HG02572.hp1	a0001 a0004 a0001 a0004	a0001c0019 a0004c0018 a0001c0019 a0004c0018	a0001c0019t0001 a0004c0018t0001 a0001c0019t0001 a0004c0018t0001	a0001c0019t0001g0099 a0004c0018t0001g0083 a0001c0019t0001g0099 a0004c0018t0001g0083	2	294	0.0068	95	c.153 others(114): Show c.1530-4150_1530-4149insAGACACCACTGCACACCCGTCCCGTG ACATCAGTGCACACCCGTCCCGAGACATCACTGCACACCCGTCTCGAGAC ACCACTCACATCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859181	G G	GTGTCTTG others(88): Show GTGTCTTGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGTTG TCTCGGGACCGGTGTGCAGTGTTGTCTCGGGACCGGTGTGCAGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0291 a0001c0002t0002g0291	1	294	0.0034	95	c.153 others(114): Show c.1530-4476_1530-4475insACACTGCACACCGGTCCCGAGACAAC ACTGCACACCGGTCCCGAGACAACACTCACACCCGTCCCGAGACACCACT GCACACCCGTCCCAAGACA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF2_chr22_50497949_50512702	50504145	A A	ACCCCCGG others(88): Show ACCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAACCCCCCC CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0009 a0001c0028t0009	a0001c0028t0009g0121 a0001c0028t0009g0121	1	414	0.0024	95	c.171 others(112): Show c.1718+194_1718+195insGTGGGGTGTGGAGCCCGGGGTGCAGGGG TAAGGCCGGGCACCGGGGGGGGGGGTTGTGGAGCCCGGGGTGCAGGGGTA AGGCCGGGCACCGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504145	A A	ACCCCCGG others(88): Show ACCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02257.hp2 HG02258.hp1 others(5): Show HG01256.hp2 HG02257.hp2 HG02258.hp1 HG02717.hp1 HG02895.hp1 HG03041.hp1 HG03453.hp1 HG03579.hp2	a0001 a0001	a0001c0006 a0001c0011 a0001c0014 others(1): Show a0001c0006 a0001c0011 a0001c0014 a0001c0015	a0001c0006t0001 a0001c0011t0001 a0001c0014t0001 others(1): Show a0001c0006t0001 a0001c0011t0001 a0001c0014t0001 a0001c0015t0001	a0001c0006t0001g0009 a0001c0011t0001g0141 a0001c0011t0001g0176 others(2): Show a0001c0006t0001g0009 a0001c0011t0001g0141 a0001c0011t0001g0176 a0001c0014t0001g0024 a0001c0015t0001g0140	8	414	0.0193	95	c.171 others(112): Show c.1718+194_1718+195insGTGGGGTGTGGAGCCCGGGGTGCAGGGG TAAGGCCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTA AGGCCGGGCACCGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LOC114841035_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(88): Show GAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	330	0.0030	95	c.-41 others(106): Show c.-4157_-4156insAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATAT ATATATATATA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3971		chr11	TogoVar
LOC114841035_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(88): Show GAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	95	c.-41 others(106): Show c.-4157_-4156insAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATAT ATATATATATA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3971		chr11	TogoVar
LOC128125818_chr4_6059977_6075162	6067579	G G	GCACTCAA others(88): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCTGAGCTCCAGGTTCA CTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18942.hp2 NA18966.hp1 others(3): Show HG02132.hp2 NA18942.hp2 NA18966.hp1 NA18967.hp2 NA18989.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0070 a0001c0001t0001g0150 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0070 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0202	6	462	0.0130	95	c.106 others(112): Show c.106+2477_106+2478insAACCTGGAGCTCAGGGGGGTGACCTGTG TGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGT GCAGAAGAGCTTGAGTG	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LRCOL1_chr12_132598151_132615582	132598423	T T	TCCTCTCC others(88): Show TCCTCTCCGCGCGCCCCGCCTCCTCTCCGCGCGCCCCGCCTCCTCTCCGC GCGCCCCGCCTCCTCTCCGCGCGCCCCGCCTCCTCTCCGCGCGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	390	0.0026	95	c.49 others(106): Show c.4978_*4979insGGGCGCGCGGAGAGGAGGCGGGGCGCGCGGAGAG GAGGCGGGGCGCGCGGAGAGGAGGCGGGGCGCGCGGAGAGGAGGCGGGGC GCGCGGAGAGG	LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding		4727		chr12	TogoVar
LSP1_chr11_1848084_1897263	1872286	G G	GGGCACTT others(88): Show GGGCACTTTTGGGAGGGGGGGGTGTGTGGCGGGCAGGCCTGGGCTGTAGT CACCCTGGCGCACGCTGGTAGAGTTGGGGTCTGTCTGGCTGGTGTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0272 a0002c0001t0001g0272	1	360	0.0028	95	c.54- others(110): Show c.54-7796_54-7795insTTTTGGGAGGGGGGGGTGTGTGGCGGGCAG GCCTGGGCTGTAGTCACCCTGGCGCACGCTGGTAGAGTTGGGGTCTGTCT GGCTGGTGTTGGCAC	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
LSP1_chr11_1848084_1897263	1872286	G G	GGGCACTT others(88): Show GGGCACTTTTGGGAGGGGGGGTGTGTGGCGGGCAGGCCTGGGCTGTAGTC ACCCTGGCGCACAGCTGGTAGAGTTGGGGTCTGTCTGGCTGGTGTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0273 a0002c0001t0001g0273	1	360	0.0028	95	c.54- others(110): Show c.54-7796_54-7795insTTTTGGGAGGGGGGGTGTGTGGCGGGCAGG CCTGGGCTGTAGTCACCCTGGCGCACAGCTGGTAGAGTTGGGGTCTGTCT GGCTGGTGTTGGCAC	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUC7L_chr16_183990_234449	187190	G G	GGAGGAAC others(88): Show GGAGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCG ACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	350	0.0029	95	c.20 others(106): Show c.2007_*2008insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGT CGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1799		chr16	TogoVar

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