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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FBXO40_chr3_121588379_121635295	121589229	A A	AAAAAACA others(20): Show AAAAAACAAAAGCACAACAAACCAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0328 a0002c0002t0004g0328	1	406	0.0025	27	c.-43 others(38): Show c.-4304_-4303insAAAAACAAAAGCACAACAAACCAAAAC		FBXO40	ENSG00000163833.8	transcript	ENST00000338040.6	protein_coding					4149		chr3	TogoVar
FBXO41_chr2_73249690_73289478	73276579	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0068 a0001c0001t0016g0068	1	372	0.0027	27	c.-13 others(46): Show c.-138-6812_-138-6811insCTCTCTCTCTCTCTCTCTCTCTCTCT C		FBXO41	ENSG00000163013.12	transcript	ENST00000520530.3	protein_coding	1/12						chr2	TogoVar
FBXO41_chr2_73249690_73289478	73276627	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0062 a0001c0001t0016g0062	1	372	0.0027	27	c.-13 others(46): Show c.-138-6860_-138-6859insCTCTCTCTCTCTCTCTCTCTCTCTCT C		FBXO41	ENSG00000163013.12	transcript	ENST00000520530.3	protein_coding	1/12						chr2	TogoVar
FBXO42_chr1_16241840_16357480	16326014	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0023 a0002c0003t0016g0023	1	76	0.0132	27	c.-17 others(46): Show c.-17-10580_-17-10579insCACACACACACACACACACACACACA C		FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9						chr1	TogoVar
FBXO42_chr1_16241840_16357480	16350757	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01993.hp1 HG03471.hp2 others(1): Show HG01175.hp1 HG01993.hp1 HG03471.hp2 NA18986.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0007 a0001c0001 a0002c0003 a0002c0007	a0001c0001t0002 a0002c0003t0003 a0002c0007t0005 a0001c0001t0002 a0002c0003t0003 a0002c0007t0005	a0001c0001t0002g0123 a0001c0001t0002g0229 a0002c0003t0003g0027 others(1): Show a0001c0001t0002g0123 a0001c0001t0002g0229 a0002c0003t0003g0027 a0002c0007t0005g0271	4	29	0.1379	27	c.-18 others(44): Show c.-18+1497_-18+1498insCTTTCTTTCTTTCTTTCTTTCTTTCTT		FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9						chr1	TogoVar
FBXW11_chr5_171856549_172011638	171893421	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0150 a0002c0005t0001g0150	1	37	0.0270	27	c.715 others(44): Show c.715-1818_715-1817insTTTTTTTTTTTTTTTTTTTTTTTTTTT		FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	6/13						chr5	TogoVar
FBXW11_chr5_171856549_172011638	171952447	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	34	0.0294	27	c.147 others(44): Show c.147+5149_147+5150insAAAAAAATATATATATATATATATATA		FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13						chr5	TogoVar
FBXW11_chr5_171856549_172011638	171952447	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	34	0.0294	27	c.147 others(44): Show c.147+5149_147+5150insAAAAAAAAATATATATATATATATATA		FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13						chr5	TogoVar
FBXW11_chr5_171856549_172011638	171952447	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	34	0.0294	27	c.147 others(44): Show c.147+5149_147+5150insAAAAAAAAAAATATATATATATATATA		FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13						chr5	TogoVar
FBXW5_chr9_136935435_136949738	136938512	A A	ATTACAGG others(20): Show ATTACAGGCATGAACCACCGCGCCCGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	432	0.0023	27	c.24 others(38): Show c.2415_*2416insACCGGGCGCGGTGGTTCATGCCTGTAA		FBXW5	ENSG00000159069.14	transcript	ENST00000325285.8	protein_coding					1922		chr9	TogoVar
FBXW8_chr12_116905950_117036148	116956725	T T	TGGGAGGC others(20): Show TGGGAGGCCAAGGTGGGTGGATCACTTA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0070 a0002c0008t0002g0070	1	288	0.0035	27	c.677 others(44): Show c.677+7023_677+7049dupAGGCCAAGGTGGGTGGATCACTTAGGG		FBXW8	ENSG00000174989.13	transcript	ENST00000652555.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
FCER1A_chr1_159297336_159313202	159298151	T T	TCATCGGC others(20): Show TCATCGGCAAAGTGTGAGTGGCTGATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	426	0.0023	27	c.-42 others(38): Show c.-4214_-4213insCATCGGCAAAGTGTGAGTGGCTGATTA		FCER1A	ENSG00000179639.11	transcript	ENST00000693622.1	protein_coding					4184		chr1	TogoVar
FCGR2B_chr1_161658143_161683654	161661202	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAGGAAGGAAGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 NA18980.hp1 NA19010.hp1 HG04115.hp1 NA18980.hp1 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0110 a0002c0002t0001g0124 a0001c0001t0001g0001 a0002c0002t0001g0110 a0002c0002t0001g0124	3	359	0.0084	27	c.-20 others(38): Show c.-2040_-2039insAAAGAAAGAAAGAAGGAAGGAAGGAAA		FCGR2B	ENSG00000072694.22	transcript	ENST00000358671.10	protein_coding					1940		chr1	TogoVar
FCGR2B_chr1_161658143_161683654	161661206	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAGGAAGGAAGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG02109.hp1 HG02572.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0054 a0002c0002t0001g0109 a0001c0001t0001g0054 a0002c0002t0001g0109	2	363	0.0055	27	c.-20 others(38): Show c.-2036_-2035insAAAGAAAGAAAGAAGGAAGGAAGGAAA		FCGR2B	ENSG00000072694.22	transcript	ENST00000358671.10	protein_coding					1936		chr1	TogoVar
FCHSD2_chr11_72831745_73147318	72941468	G G	GTTTTATA others(20): Show GTTTTATATTCCCCACTCTATTTTATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00639.hp2 others(75): Show HG00438.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01081.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02148.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02647.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG04115.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18956.hp1 NA18968.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18985.hp1 NA19003.hp2 NA19007.hp2 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19077.hp2 NA19079.hp1 NA19084.hp1 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0017 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0017 a0001c0004t0001 a0001c0004t0015	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(75): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0017g0205 a0001c0004t0001g0006 a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0093 a0001c0004t0015g0092	78	287	0.2718	27	c.706 others(46): Show c.706-19519_706-19518insATATAAAATAGAGTGGGGAATATAAA A		FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding	8/19						chr11	TogoVar
FCHSD2_chr11_72831745_73147318	73096987	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03041.hp2 HG03139.hp1 HG02135.hp2 HG03041.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0011 a0001c0004t0001 a0001c0001t0001 a0001c0001t0011 a0001c0004t0001	a0001c0001t0001g0155 a0001c0001t0011g0157 a0001c0004t0001g0089 a0001c0001t0001g0155 a0001c0001t0011g0157 a0001c0004t0001g0089	3	10	0.3000	27	c.120 others(46): Show c.120-13274_120-13248dupAAAAAAAAAAAAAAAAAAAAAAAAAA A		FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding	2/19						chr11	TogoVar
FCMR_chr1_206898317_206926941	206907080	C C	CGGGGGGT others(20): Show CGGGGGGTGGGGGGGTGGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0136 a0001c0009t0001g0136	1	377	0.0027	27	c.104 others(46): Show c.1045-1960_1045-1934dupCCCCACCCCCCCACCCCCCCACCCCC C		FCMR	ENSG00000162894.12	transcript	ENST00000367091.8	protein_coding	7/7						chr1	TogoVar
FCN1_chr9_134898232_134922912	134905783	C C	CGCTGCTG others(20): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp2 HG01433.hp2 HG01943.hp2 others(1): Show HG01261.hp2 HG01433.hp2 HG01943.hp2 HG03017.hp1	a0001 a0007 a0001 a0007	a0001c0003 a0007c0014 a0001c0003 a0007c0014	a0001c0003t0245 a0001c0003t0250 a0001c0003t0253 others(1): Show a0001c0003t0245 a0001c0003t0250 a0001c0003t0253 a0007c0014t0216	a0001c0003t0245g0307 a0001c0003t0250g0310 a0001c0003t0253g0313 others(1): Show a0001c0003t0245g0307 a0001c0003t0250g0310 a0001c0003t0253g0313 a0007c0014t0216g0132	4	401	0.0100	27	c.40 others(38): Show c.4014_*4015insAGCAGCAGCAGCAGCAGCAGCAGCAGC		FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9				4014		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905810	C C	CTCTTCTT others(20): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG02135.hp2 HG02698.hp1 others(1): Show HG01243.hp1 HG02135.hp2 HG02698.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0167 a0001c0001t0188 a0001c0001t0221 others(1): Show a0001c0001t0167 a0001c0001t0188 a0001c0001t0221 a0001c0003t0235	a0001c0001t0167g0080 a0001c0001t0188g0097 a0001c0001t0221g0124 others(1): Show a0001c0001t0167g0080 a0001c0001t0188g0097 a0001c0001t0221g0124 a0001c0003t0235g0301	4	240	0.0167	27	c.39 others(38): Show c.3987_*3988insAGAAGAAGAAGAAGAAGAAGAAGAAGA		FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9				3987		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905907	T T	TCTTCTCC others(20): Show TCTTCTCCTCCTTCTTCTTCTCCTTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0147 a0001c0001t0073g0147	1	308	0.0032	27	c.38 others(38): Show c.3890_*3891insGAGAAGGAGAAGAAGAAGGAGGAGAAG		FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9				3890		chr9	TogoVar
FCRL2_chr1_157740733_157782132	157760698	G G	GGAAAGAA others(20): Show GGAAAGAAAGAAATAAAGAAAGAAGAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0043 a0002c0003t0001g0043	1	203	0.0049	27	c.127 others(46): Show c.1279+6156_1279+6157insTTTCTTCTTTCTTTATTTCTTTCTTT C		FCRL2	ENSG00000132704.16	transcript	ENST00000361516.8	protein_coding	7/11						chr1	TogoVar
FCRL3_chr1_157671481_157705769	157703678	C C	CCAGGATG others(20): Show CCAGGATGGTTGGGTTTCACCATGCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	380	0.0026	27	c.-31 others(38): Show c.-3114_-3113insCCAGCATGGTGAAACCCAACCATCCTG		FCRL3	ENSG00000160856.21	transcript	ENST00000368184.8	protein_coding					2910		chr1	TogoVar
FCRL4_chr1_157568747_157603085	157573784	A A	AGCGCTGA others(20): Show AGCGCTGAAAGTGAATATCCTTTTGCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0045 a0001c0001t0013g0045	2	400	0.0050	27	c.17 others(38): Show c.1713_*1739dupAAGCAAAAGGATATTCACTTTCAGCGC		FCRL4	ENSG00000163518.11	transcript	ENST00000271532.2	protein_coding	12/12				1739		chr1	TogoVar
FCRL4_chr1_157568747_157603085	157585407	T T	TTTCTTCT others(20): Show TTTCTTCTTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02647.hp1 HG03471.hp2 HG01109.hp1 HG02647.hp1 HG03471.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0167 a0004c0005t0005g0169 a0004c0005t0005g0170 a0004c0005t0005g0167 a0004c0005t0005g0169 a0004c0005t0005g0170	3	381	0.0079	27	c.113 others(44): Show c.1135+760_1135+761insGGAAAGAAAGAAAGAAAGAAAGAAGAA		FCRL4	ENSG00000163518.11	transcript	ENST00000271532.2	protein_coding	6/11						chr1	TogoVar
FCSK_chr16_70449595_70485274	70454657	A A	AGCGCCCC others(20): Show AGCGCCCCTTGCGCCCCTTGCGCCCCTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	302	0.0033	27	c.-23 others(40): Show c.-23+35_-23+61dupTTGCGCCCCTTGCGCCCCTTGCGCCCC		FCSK	ENSG00000157353.17	transcript	ENST00000288078.11	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr16	TogoVar
FEM1A_chr19_4786734_4806273	4799904	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG00735.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0111 a0001c0001t0092 a0001c0001t0111	a0001c0001t0092g0000 a0001c0001t0111g0000 a0001c0001t0092g0000 a0001c0001t0111g0000	2	68	0.0294	27	c.60 others(38): Show c.6043_*6069dupAAAAAAAAAAAAAAAAAAAAAAAAAAA		FEM1A	ENSG00000141965.5	transcript	ENST00000269856.5	protein_coding	1/1				6070	INFO_REALIGN_3_PRIME	chr19	TogoVar
FER1L6_chr8_123846987_124125061	123855964	G G	GATATACA others(20): Show GATATACATATGTATATGAGATATATGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp2 HG02965.hp2 others(2): Show HG01243.hp1 HG02572.hp2 HG02965.hp2 HG02976.hp1 NA19081.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0014 a0002c0012 others(2): Show a0001c0001 a0001c0014 a0002c0012 a0002c0018 a0014c0044	a0001c0001t0003 a0001c0014t0005 a0002c0012t0002 others(2): Show a0001c0001t0003 a0001c0014t0005 a0002c0012t0002 a0002c0018t0001 a0014c0044t0004	a0001c0001t0003g0077 a0001c0014t0005g0094 a0002c0012t0002g0060 others(2): Show a0001c0001t0003g0077 a0001c0014t0005g0094 a0002c0012t0002g0060 a0002c0018t0001g0101 a0014c0044t0004g0083	5	194	0.0258	27	c.-8+ others(42): Show c.-8+3846_-8+3872dupATATGAGATATATGTATATACATATGT		FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr8	TogoVar
FER1L6_chr8_123846987_124125061	123855977	A A	ATATGAGA others(20): Show ATATGAGATATATGTATATACATATGTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0054 a0001c0004t0003g0054	1	190	0.0053	27	c.-8+ others(42): Show c.-8+3818_-8+3819insGTATGAGATATATGTATATACATATGT		FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr8	TogoVar
FER1L6_chr8_123846987_124125061	123856004	A A	ATATGAGA others(20): Show ATATGAGATATATGTATATACATATGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0002 a0002c0026t0002	a0002c0026t0002g0151 a0002c0026t0002g0151	1	175	0.0057	27	c.-8+ others(42): Show c.-8+3845_-8+3846insGTATGAGATATATGTATATACATATGT		FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr8	TogoVar
FER1L6_chr8_123846987_124125061	123856025	A A	ATATGTAT others(20): Show ATATGTATATGAGATATATGTATATACT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp2 HG03209.hp2 HG02109.hp1 HG02886.hp2 HG03209.hp2	a0001 a0001	a0001c0008 a0001c0020 a0001c0008 a0001c0020	a0001c0008t0001 a0001c0008t0002 a0001c0020t0004 a0001c0008t0001 a0001c0008t0002 a0001c0020t0004	a0001c0008t0001g0130 a0001c0008t0002g0070 a0001c0020t0004g0069 a0001c0008t0001g0130 a0001c0008t0002g0070 a0001c0020t0004g0069	3	194	0.0155	27	c.-8+ others(42): Show c.-8+3866_-8+3867insTTATGTATATGAGATATATGTATATAC		FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr8	TogoVar
FER1L6_chr8_123846987_124125061	123974659	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03209.hp2 HG03579.hp1 HG00140.hp2 HG03209.hp2 HG03579.hp1	a0001 a0017 a0001 a0017	a0001c0004 a0001c0008 a0017c0036 a0001c0004 a0001c0008 a0017c0036	a0001c0004t0003 a0001c0008t0001 a0017c0036t0001 a0001c0004t0003 a0001c0008t0001 a0017c0036t0001	a0001c0004t0003g0090 a0001c0008t0001g0130 a0017c0036t0001g0165 a0001c0004t0003g0090 a0001c0008t0001g0130 a0017c0036t0001g0165	3	77	0.0390	27	c.527 others(42): Show c.527-468_527-467insAAAAAAAAAAAAAAAAAAAAAAAAAAA		FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	7/40					INFO_REALIGN_3_PRIME	chr8	TogoVar
FERMT2_chr14_52852273_52956050	52902868	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp1 HG01071.hp2 others(2): Show HG00280.hp2 HG01070.hp1 HG01071.hp2 HG02896.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0144 a0001c0001t0008g0157 a0001c0002t0002g0007 others(2): Show a0001c0001t0001g0144 a0001c0001t0008g0157 a0001c0002t0002g0007 a0001c0004t0001g0207 a0001c0004t0001g0208	5	57	0.0877	27	c.392 others(44): Show c.392-9442_392-9441insTTTTTTTTTTTTTTTTTTTTTTTTTTT		FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	3/14						chr14	TogoVar
FERMT2_chr14_52852273_52956050	52913680	C C	CAGTAGTA others(20): Show CAGTAGTAGTAGTAGTAGTAGTAGTAGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01515.hp1 HG02615.hp1 HG00741.hp2 HG01515.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0002t0002g0184 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0002t0002g0184	3	175	0.0171	27	c.391 others(44): Show c.391+5416_391+5442dupACTACTACTACTACTACTACTACTACT		FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	3/14						chr14	TogoVar
FERMT2_chr14_52852273_52956050	52943208	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp2 HG03471.hp2 HG02257.hp1 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189	3	248	0.0121	27	c.157 others(44): Show c.157+7203_157+7204insTTTTTTTTTTTTTTTTTTTTTTTTTTT		FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	2/14						chr14	TogoVar
FER_chr5_108742897_109201841	108859920	C C	CTATTATT others(20): Show CTATTATTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0066 a0002c0003t0003g0066	1	40	0.0250	27	c.482 others(44): Show c.482-7836_482-7810dupATTATTATTATTATTATTATTATTATT		FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108927252	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG04228.hp2 NA18522.hp1 HG03139.hp1 HG04228.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0009 a0001c0002 a0003c0009	a0001c0002t0001 a0003c0009t0002 a0001c0002t0001 a0003c0009t0002	a0001c0002t0001g0001 a0001c0002t0001g0121 a0003c0009t0002g0058 a0001c0002t0001g0001 a0001c0002t0001g0121 a0003c0009t0002g0058	3	34	0.0882	27	c.123 others(48): Show c.1237-18859_1237-18858insTTTTTTTTTTTTTTTTTTTTTTTT TTT		FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
FES_chr15_90879504_90900776	90898965	T T	TTGATGAA others(20): Show TTGATGAATGTCAAAGACGTGGTTGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	410	0.0024	27	c.34 others(38): Show c.3407_*3408insTGATGAATGTCAAAGACGTGGTTGGGC		FES	ENSG00000182511.12	transcript	ENST00000328850.8	protein_coding					3190		chr15	TogoVar
FEZ1_chr11_125437881_125501265	125449441	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02027.hp2 HG02040.hp2 HG00735.hp1 HG02027.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0078 a0001c0001t0003g0100 a0001c0001t0003g0068 a0001c0001t0003g0078 a0001c0001t0003g0100	3	283	0.0106	27	c.109 others(44): Show c.1097-875_1097-874insCTTTTTTTTTTTTTTTTTTTTTTTTTT		FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	8/9						chr11	TogoVar
FEZ1_chr11_125437881_125501265	125489688	G G	GAAACACT others(20): Show GAAACACTGGGGCTTCTCCTCCGGGTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19057.hp2 NA19057.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0244 a0005c0008t0002g0244	1	354	0.0028	27	c.63_ others(32): Show c.63_89dupGGACCCGGAGGAGAAGCCCCAGTGTTT	p.Cys others(38): Show p.Cys29_Phe30insLeuAspProGluGluLysProGlnCys	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	2/10	279/4583	89/1179	30/392			chr11	TogoVar
FEZF1_chr7_122296303_122309750	122299033	T T	TCTCTCTC others(20): Show TCTCTCTCCTCTCCTCTCCTCTCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	432	0.0023	27	c.29 others(38): Show c.2963_*2964insGAGAGGAGAGGAGAGGAGAGGAGAGAG		FEZF1	ENSG00000128610.12	transcript	ENST00000442488.7	protein_coding					2269		chr7	TogoVar
FGD4_chr12_32394558_32651050	32422288	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0169 a0002c0006t0007g0169	1	28	0.0357	27	c.166 others(46): Show c.166+22331_166+22357dupTTTTTTTTTTTTTTTTTTTTTTTTTT T		FGD4	ENSG00000139132.16	transcript	ENST00000534526.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
FGD4_chr12_32394558_32651050	32599494	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01433.hp1 HG02129.hp2 HG00099.hp2 HG01433.hp1 HG02129.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0002 a0002c0006t0007 a0001c0004t0002 a0002c0006t0007	a0001c0004t0002g0046 a0002c0006t0007g0169 a0002c0006t0007g0201 a0001c0004t0002g0046 a0002c0006t0007g0169 a0002c0006t0007g0201	3	136	0.0221	27	c.110 others(44): Show c.1101+922_1101+923insAAAAAAAAAAAAAAAAAAAAAAAAAAA		FGD4	ENSG00000139132.16	transcript	ENST00000534526.7	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
FGD4_chr12_32394558_32651050	32599534	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0008 a0002c0005t0008	a0002c0005t0008g0192 a0002c0005t0008g0192	1	55	0.0182	27	c.110 others(44): Show c.1101+952_1101+978dupTTTTTTTTTTTTTTTTTTTTTTTTTTT		FGD4	ENSG00000139132.16	transcript	ENST00000534526.7	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
FGD5_chr3_14813962_14939571	14853636	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0243 a0002c0007t0001g0243	1	18	0.0556	27	c.252 others(48): Show c.2526-10487_2526-10461dupTTTTTTTTTTTTTTTTTTTTTTTT TTT		FGD5	ENSG00000154783.12	transcript	ENST00000285046.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr3	TogoVar
FGD6_chr12_95071749_95222467	95083012	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0253 a0002c0002t0030g0253	1	102	0.0098	27	c.425 others(46): Show c.4257-1457_4257-1456insATATATATATATATATATATATATTT T		FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	20/20						chr12	TogoVar
FGD6_chr12_95071749_95222467	95186225	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19088.hp2 HG02074.hp2 NA19088.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0336 a0003c0004t0004g0356 a0003c0004t0004g0336 a0003c0004t0004g0356	2	18	0.1111	27	c.244 others(48): Show c.2442-13482_2442-13481insAAAAAAAAAAAAAAAAAAAAAAAA AAA		FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	2/20						chr12	TogoVar
FGF12_chr3_192134390_192732541	192158367	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03471.hp1 HG03471.hp2 HG02818.hp1 HG03471.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0017 a0001c0001t0032 a0001c0001t0016 a0001c0001t0017 a0001c0001t0032	a0001c0001t0016g0035 a0001c0001t0017g0010 a0001c0001t0032g0079 a0001c0001t0016g0035 a0001c0001t0017g0010 a0001c0001t0032g0079	3	77	0.0390	27	c.427 others(46): Show c.427+12090_427+12091insGAAAGAAAGAAAGAAAGAAAGAAAGA A		FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	5/5						chr3	TogoVar
FGF12_chr3_192134390_192732541	192158651	C C	CCCTTCCT others(20): Show CCCTTCCTTCCCTCCCCCTTCCTTCTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02647.hp2 HG02818.hp1 others(1): Show HG01109.hp1 HG02647.hp2 HG02818.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0032 a0001c0001t0033 a0001c0001t0016 a0001c0001t0032 a0001c0001t0033	a0001c0001t0016g0035 a0001c0001t0016g0060 a0001c0001t0032g0079 others(1): Show a0001c0001t0016g0035 a0001c0001t0016g0060 a0001c0001t0032g0079 a0001c0001t0033g0009	4	83	0.0482	27	c.427 others(46): Show c.427+11806_427+11807insAAAGAAGGAAGGGGGAGGGAAGGAAG G		FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	5/5						chr3	TogoVar
FGF12_chr3_192134390_192732541	192158655	C C	CCCTTCCC others(20): Show CCCTTCCCTCCCCCTTCCTTCTTTCCTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04204.hp1 NA18962.hp1 HG04115.hp2 HG04204.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0053 a0001c0001t0008g0083 a0001c0001t0008g0084 a0001c0001t0008g0053 a0001c0001t0008g0083 a0001c0001t0008g0084	3	65	0.0462	27	c.427 others(46): Show c.427+11802_427+11803insAAGGAAAGAAGGAAGGGGGAGGGAAG G		FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	5/5						chr3	TogoVar
FGF12_chr3_192134390_192732541	192158666	C C	CTCCCCCT others(20): Show CTCCCCCTTCCTTCTTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01258.hp2 HG01261.hp1 others(10): Show HG01074.hp2 HG01258.hp2 HG01261.hp1 HG01934.hp1 HG02132.hp1 HG02257.hp2 HG02300.hp1 HG02976.hp1 HG03471.hp1 HG03492.hp1 HG04115.hp1 NA19060.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(5): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0027 a0001c0001t0037	a0001c0001t0004g0050 a0001c0001t0006g0046 a0001c0001t0006g0049 others(10): Show a0001c0001t0004g0050 a0001c0001t0006g0046 a0001c0001t0006g0049 a0001c0001t0006g0066 a0001c0001t0006g0067 a0001c0001t0009g0026 a0001c0001t0010g0069 a0001c0001t0014g0013 a0001c0001t0014g0057 a0001c0001t0017g0010 a0001c0001t0017g0017 a0001c0001t0027g0047 a0001c0001t0037g0064	13	86	0.1512	27	c.427 others(46): Show c.427+11791_427+11792insAGGAAGGAAGGAAAGAAGGAAGGGGG A		FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	5/5						chr3	TogoVar

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