Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
FLT1_chr13_28295346_28500128	28474507	C C	CACACACA others(23): Show CACACACACACACACACACACAGACACACAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG01891.hp2 others(3): Show HG01175.hp1 HG01243.hp2 HG01891.hp2 NA18906.hp1 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0018 a0001c0002 a0001c0004 a0001c0018	a0001c0002t0006 a0001c0002t0030 a0001c0004t0001 others(3): Show a0001c0002t0006 a0001c0002t0030 a0001c0004t0001 a0001c0004t0005 a0001c0004t0011 a0001c0018t0007	a0001c0002t0006g0047 a0001c0002t0030g0002 a0001c0004t0001g0049 others(3): Show a0001c0002t0006g0047 a0001c0002t0030g0002 a0001c0004t0001g0049 a0001c0004t0005g0018 a0001c0004t0011g0003 a0001c0018t0007g0004	6	228	0.0263	30	c.65- others(45): Show c.65-6891_65-6890insCTGTGTGTCTGTGTGTGTGTGTGTGTGTGT	FLT1	ENSG00000102755.13	transcript	ENST00000282397.9	protein_coding	1/29			chr13	TogoVar
FLT3_chr13_27998274_28105576	28053397	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18955.hp2 NA18906.hp1 NA18955.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0123 a0003c0003t0001g0188 a0002c0002t0002g0123 a0003c0003t0001g0188	2	292	0.0069	30	c.485 others(45): Show c.485-724_485-723insATATATATATATATATATATATATATATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding	4/23			chr13	TogoVar
FLVCR1_chr1_212853275_212904363	212897349	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0249 a0001c0001t0061g0249	1	368	0.0027	30	c.20 others(41): Show c.2080_*2081insCACACACACACACACACACACACACACACA	FLVCR1	ENSG00000162769.13	transcript	ENST00000366971.9	protein_coding	10/10	2081	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN1_chr15_32760544_33199714	32984978	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0069 a0002c0003t0007g0069	1	196	0.0051	30	c.222 others(51): Show c.2224-15502_2224-15501insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	7/20			chr15	TogoVar
FMN1_chr15_32760544_33199714	33048644	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01243.hp1 HG01261.hp1 others(8): Show HG00099.hp1 HG01243.hp1 HG01261.hp1 HG02109.hp1 HG02300.hp1 HG02976.hp2 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03834.hp2 NA18946.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0007 a0038 a0042	a0001c0002 a0004c0010 a0004c0018 others(7): Show a0001c0002 a0004c0010 a0004c0018 a0004c0027 a0004c0028 a0005c0004 a0005c0013 a0007c0011 a0038c0069 a0042c0092	a0001c0002t0040 a0004c0010t0014 a0004c0018t0005 others(8): Show a0001c0002t0040 a0004c0010t0014 a0004c0018t0005 a0004c0018t0080 a0004c0027t0002 a0004c0028t0002 a0005c0004t0013 a0005c0013t0008 a0007c0011t0009 a0038c0069t0003 a0042c0092t0008	a0001c0002t0040g0161 a0004c0010t0014g0017 a0004c0018t0005g0082 others(8): Show a0001c0002t0040g0161 a0004c0010t0014g0017 a0004c0018t0005g0082 a0004c0018t0080g0086 a0004c0027t0002g0139 a0004c0028t0002g0155 a0005c0004t0013g0123 a0005c0013t0008g0121 a0007c0011t0009g0067 a0038c0069t0003g0041 a0042c0092t0008g0083	11	196	0.0561	30	c.216 others(51): Show c.2161+16312_2161+16313insGTTTTTGTTTTTTTTTTTTTTTTT TTTTTT	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	6/20			chr15	TogoVar
FMN1_chr15_32760544_33199714	33048644	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAACAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0007 a0007	a0007c0097 a0007c0097	a0007c0097t0045 a0007c0097t0045	a0007c0097t0045g0142 a0007c0097t0045g0142	1	196	0.0051	30	c.216 others(51): Show c.2161+16312_2161+16313insGTTTTTGTTTTTGTTTTTTTTTTT TTTTTT	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	6/20			chr15	TogoVar
FMN2_chr1_240086883_240480187	240184974	C C	CTTCCCCC others(23): Show CTTCCCCCTTCTCTTTCTCCCTCCTATACCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0072 a0001c0008t0001g0072	1	174	0.0058	30	c.193 others(49): Show c.1931-3227_1931-3226insCTTCTCTTTCTCCCTCCTATACCTTT CCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240185145	C C	CTTCCCCC others(23): Show CTTCCCCCTTCTCTTTCTCCCTCCTATACCT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02738.hp2 NA19011.hp2 HG01358.hp1 HG02738.hp2 NA19011.hp2	a0003 a0014 a0003 a0014	a0003c0083 a0003c0119 a0014c0011 a0003c0083 a0003c0119 a0014c0011	a0003c0083t0002 a0003c0119t0003 a0014c0011t0001 a0003c0083t0002 a0003c0119t0003 a0014c0011t0001	a0003c0083t0002g0056 a0003c0119t0003g0115 a0014c0011t0001g0034 a0003c0083t0002g0056 a0003c0119t0003g0115 a0014c0011t0001g0034	3	174	0.0172	30	c.193 others(49): Show c.1931-3056_1931-3055insCTTCTCTTTCTCCCTCCTATACCTTT CCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240185147	T T	TCCCCCTT others(23): Show TCCCCCTTCTCTTTCTCCCTCCTATACCTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03225.hp2 HG02132.hp2 HG03225.hp2	a0003 a0004 a0003 a0004	a0003c0120 a0004c0081 a0003c0120 a0004c0081	a0003c0120t0001 a0004c0081t0002 a0003c0120t0001 a0004c0081t0002	a0003c0120t0001g0166 a0004c0081t0002g0099 a0003c0120t0001g0166 a0004c0081t0002g0099	2	174	0.0115	30	c.193 others(49): Show c.1931-3056_1931-3055insCTTCTCTTTCTCCCTCCTATACCTTT CCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240228327	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0016 a0016	a0016c0075 a0016c0075	a0016c0075t0002 a0016c0075t0002	a0016c0075t0002g0089 a0016c0075t0002g0089	1	174	0.0058	30	c.406 others(51): Show c.4065+17097_4065+17098insAAAAAAAAAAAAAAAAAAAAAAAA GAAAAA	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240241825	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0047 a0047	a0047c0110 a0047c0110	a0047c0110t0001 a0047c0110t0001	a0047c0110t0001g0134 a0047c0110t0001g0134	1	174	0.0058	30	c.406 others(51): Show c.4066-16091_4066-16090insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240271098	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0019 a0019	a0019c0034 a0019c0034	a0019c0034t0001 a0019c0034t0001	a0019c0034t0001g0023 a0019c0034t0001g0023	1	174	0.0058	30	c.415 others(51): Show c.4153+13085_4153+13086insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240328147	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0026 a0026	a0026c0044 a0026c0044	a0026c0044t0001 a0026c0044t0001	a0026c0044t0001g0012 a0026c0044t0001g0012	1	174	0.0058	30	c.421 others(47): Show c.4216-904_4216-903insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240355951	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	174	0.0058	30	c.485 others(45): Show c.4858+49_4858+78dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240368955	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0010 a0010	a0010c0056 a0010c0056	a0010c0056t0001 a0010c0056t0001	a0010c0056t0001g0144 a0010c0056t0001g0144	1	174	0.0058	30	c.485 others(51): Show c.4858+13065_4858+13066insTATATATATATATATATATATATA TATATA	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMNL2_chr2_152330174_152654826	152357065	A A	AAGTTTAA others(23): Show AAGTTTAATGTATCACGATAAATATTACATC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0059 a0002c0005t0003g0059	1	200	0.0050	30	c.117 others(49): Show c.117+21353_117+21354insGTATCACGATAAATATTACATCAGTT TAAT	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
FMNL2_chr2_152330174_152654826	152357122	C C	CATCAGTT others(23): Show CATCAGTTTAATGTATCACGATAAATATTAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	200	0.0050	30	c.117 others(49): Show c.117+21431_117+21432insAATCAGTTTAATGTATCACGATAAAT ATTA	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
FMNL2_chr2_152330174_152654826	152357288	C C	CACGATAA others(23): Show CACGATAAATATTAAATCAGTTTAATGTATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA20300.hp1 HG03486.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0001 a0002c0005t0001 a0001c0003t0001 a0002c0005t0001	a0001c0003t0001g0081 a0002c0005t0001g0080 a0001c0003t0001g0081 a0002c0005t0001g0080	2	200	0.0100	30	c.117 others(49): Show c.117+21597_117+21598insAACGATAAATATTAAATCAGTTTAAT GTAT	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
FMNL2_chr2_152330174_152654826	152357318	C C	CACGATAA others(23): Show CACGATAAATATTAAATCAGTTTAATGTATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	200	0.0050	30	c.117 others(49): Show c.117+21627_117+21628insAACGATAAATATTAAATCAGTTTAAT GTAT	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
FMNL2_chr2_152330174_152654826	152357348	C C	CACGATAA others(23): Show CACGATAAATATTAAATCAGTTTAATGTATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18977.hp1 HG04184.hp1 NA18977.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0029 a0001c0001 a0013c0029	a0001c0001t0002 a0013c0029t0002 a0001c0001t0002 a0013c0029t0002	a0001c0001t0002g0026 a0013c0029t0002g0052 a0001c0001t0002g0026 a0013c0029t0002g0052	2	200	0.0100	30	c.117 others(49): Show c.117+21931_117+21960dupGATAAATATTAAATCAGTTTAATGTA TAAC	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
FMNL2_chr2_152330174_152654826	152375877	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0003 a0005c0014t0003	a0005c0014t0003g0099 a0005c0014t0003g0099	1	200	0.0050	30	c.117 others(49): Show c.117+40158_117+40159insCTCTCTCTCTCTCTATATATATATAT ATAT	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
FMNL2_chr2_152330174_152654826	152568218	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0002 a0003c0019t0002	a0003c0019t0002g0135 a0003c0019t0002g0135	1	200	0.0050	30	c.597 others(47): Show c.597-6903_597-6902insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
FMNL2_chr2_152330174_152654826	152589987	A A	ATATATAT others(23): Show ATATATATGTATATGTATGTATATGTATATG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0168 a0002c0002t0001g0168	1	200	0.0050	30	c.876 others(47): Show c.876+8941_876+8942insATATGTATATGTATGTATATGTATATGT AT	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	9/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
FMNL2_chr2_152330174_152654826	152589987	A A	ATGTATAT others(23): Show ATGTATATGTATGTATATGTATATGTATATG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02155.hp1 HG02809.hp1 others(5): Show HG01106.hp1 HG02155.hp1 HG02809.hp1 HG02965.hp1 HG04184.hp2 NA18941.hp2 NA18945.hp1 NA19091.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0004 a0002c0005 others(2): Show a0001c0001 a0001c0004 a0002c0005 a0002c0008 a0007c0036	a0001c0001t0002 a0001c0001t0003 a0001c0004t0001 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0004t0001 a0002c0005t0003 a0002c0008t0002 a0007c0036t0001	a0001c0001t0002g0053 a0001c0001t0002g0064 a0001c0001t0002g0147 others(5): Show a0001c0001t0002g0053 a0001c0001t0002g0064 a0001c0001t0002g0147 a0001c0001t0003g0057 a0001c0004t0001g0122 a0002c0005t0003g0056 a0002c0008t0002g0018 a0007c0036t0001g0082	8	200	0.0400	30	c.876 others(47): Show c.876+8939_876+8940insGTATATGTATGTATATGTATATGTATAT GT	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	9/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
FMO3_chr1_171085905_171122819	171096665	T T	TACATAAT others(23): Show TACATAATATACTTTATATATTAAATACATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02965.hp2 others(1): Show HG01891.hp2 HG02258.hp2 HG02965.hp2 HG03130.hp1	a0001 a0001	a0001c0007 a0001c0021 a0001c0007 a0001c0021	a0001c0007t0001 a0001c0021t0001 a0001c0007t0001 a0001c0021t0001	a0001c0007t0001g0195 a0001c0007t0001g0196 a0001c0007t0001g0197 others(1): Show a0001c0007t0001g0195 a0001c0007t0001g0196 a0001c0007t0001g0197 a0001c0021t0001g0198	4	404	0.0099	30	c.132 others(47): Show c.132+3876_132+3877insCATAATATACTTTATATATTAAATACAT AA	FMO3	ENSG00000007933.13	transcript	ENST00000367755.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMO3_chr1_171085905_171122819	171096707	A A	AAATTAAT others(23): Show AAATTAATATGATTATATTAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	404	0.0025	30	c.132 others(47): Show c.132+3926_132+3927insGATTATATTAAAAATATATATAATTAAT AT	FMO3	ENSG00000007933.13	transcript	ENST00000367755.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMR1_chrX_147906919_147956125	147912049	C C	CGCGGCGG others(23): Show CGCGGCGGCGGCGGCGGCGGCGGCGGCGGAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02818.hp1 HG03209.hp1 NA18977.hp1 others(1): Show HG02818.hp1 HG03209.hp1 NA18977.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0020 a0001c0001t0046 a0001c0006t0038 a0001c0001t0020 a0001c0001t0046 a0001c0006t0038	a0001c0001t0020g0001 a0001c0001t0046g0172 a0001c0006t0038g0100 a0001c0001t0020g0001 a0001c0001t0046g0172 a0001c0006t0038g0100	4	304	0.0132	30	c.-10 others(39): Show c.-103_-102insAGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	FMR1	ENSG00000102081.16	transcript	ENST00000370475.9	protein_coding	1/17	102	INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1_chrX_147906919_147956125	147912049	C C	CGCGGCGG others(23): Show CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02486.hp1 HG02683.hp1 NA18961.hp1 others(3): Show HG02486.hp1 HG02683.hp1 NA18961.hp1 NA18978.hp2 NA19001.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0001t0078 a0001c0002t0071 a0001c0001t0017 a0001c0001t0078 a0001c0002t0071	a0001c0001t0017g0007 a0001c0001t0017g0116 a0001c0001t0017g0143 others(3): Show a0001c0001t0017g0007 a0001c0001t0017g0116 a0001c0001t0017g0143 a0001c0001t0017g0148 a0001c0001t0078g0001 a0001c0002t0071g0195	6	304	0.0197	30	c.-12 others(39): Show c.-129_-100dupCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	FMR1	ENSG00000102081.16	transcript	ENST00000370475.9	protein_coding	1/17	99	INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1_chrX_147906919_147956125	147912051	C C	CGGCGGCG others(23): Show CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(67): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00597.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04184.hp2 HG06807.hp2 NA18612.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18969.hp2 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18993.hp1 NA18999.hp1 NA19009.hp1 NA19058.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0055 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0055 a0001c0002t0007 a0001c0002t0015	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 others(43): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0103 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0212 a0001c0001t0007g0002 a0001c0001t0007g0005 a0001c0001t0007g0154 a0001c0001t0055g0003 a0001c0002t0007g0031 a0001c0002t0015g0020 a0001c0002t0015g0096 a0001c0002t0015g0098	70	304	0.2303	30	c.-99 others(37): Show c.-99_-70dupAGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	FMR1	ENSG00000102081.16	transcript	ENST00000370475.9	protein_coding	1/17	69	INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1_chrX_147906919_147956125	147912081	A A	AGGCGGCG others(23): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19084.hp2 NA20805.hp1 NA19084.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0002 a0001c0001t0026g0115 a0001c0001t0026g0002 a0001c0001t0026g0115	2	304	0.0066	30	c.-98 others(37): Show c.-98_-69dupGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	FMR1	ENSG00000102081.16	transcript	ENST00000370475.9	protein_coding	1/17	68	INFO_REALIGN_3_PRIME	chrX	TogoVar
FN1_chr2_215355865_215441068	215401263	G G	GAAGGAAG others(23): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0165 a0001c0045t0001g0165	1	240	0.0042	30	c.325 others(49): Show c.3254-1913_3254-1912insTCCTTTCCTTCCTTCCTTCCTTCCTT CCTT	FN1	ENSG00000115414.21	transcript	ENST00000354785.11	protein_coding	20/45			chr2	TogoVar
FNBP1_chr9_129882187_130048189	129958985	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	212	0.0047	30	c.346 others(45): Show c.346-433_346-432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	FNBP1	ENSG00000187239.19	transcript	ENST00000446176.7	protein_coding	4/16			chr9	TogoVar
FNDC3B_chr3_172034578_172406669	172084472	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0075 a0001c0001t0066g0075	1	196	0.0051	30	c.-28 others(49): Show c.-28-27967_-28-27966insCACACACACACACACACACACACACA CACA	FNDC3B	ENSG00000075420.13	transcript	ENST00000415807.7	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr3	TogoVar
FNDC3B_chr3_172034578_172406669	172193328	C C	CCCCTCCC others(23): Show CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02109.hp2 HG02165.hp2 others(11): Show HG01074.hp2 HG02109.hp2 HG02165.hp2 HG02622.hp1 HG02717.hp1 HG02818.hp1 HG02976.hp1 HG03041.hp1 HG03486.hp2 HG03491.hp1 NA18961.hp1 NA19005.hp1 NA19010.hp1 NA19066.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0002c0004 a0008c0015	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(8): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0002t0014 a0001c0007t0013 a0002c0003t0002 a0002c0003t0003 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0008c0015t0002	a0001c0001t0001g0002 a0001c0001t0001g0160 a0001c0001t0008g0092 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0160 a0001c0001t0008g0092 a0001c0001t0008g0193 a0001c0001t0009g0086 a0001c0002t0014g0153 a0001c0007t0013g0188 a0002c0003t0002g0094 a0002c0003t0002g0099 a0002c0003t0003g0047 a0002c0004t0001g0010 a0002c0004t0002g0030 a0002c0004t0003g0021 a0008c0015t0002g0170	14	196	0.0714	30	c.188 others(49): Show c.188-33539_188-33538insCCCCTCCCCTCCCCTCCCCTCCCCTT CCCT	FNDC3B	ENSG00000075420.13	transcript	ENST00000415807.7	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr3	TogoVar
FNIP1_chr5_131636714_131802017	131661218	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0014 a0005c0009t0014	a0005c0009t0014g0050 a0005c0009t0014g0050	1	328	0.0031	30	c.310 others(49): Show c.3109-9220_3109-9219insCACACACACACACACACACACACACA CACA	FNIP1	ENSG00000217128.13	transcript	ENST00000510461.6	protein_coding	15/17			chr5	TogoVar
FNIP2_chr4_158764026_158913050	158834288	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	254	0.0039	30	c.655 others(45): Show c.655+673_655+702dupTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	FNIP2	ENSG00000052795.13	transcript	ENST00000264433.11	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
FNIP2_chr4_158764026_158913050	158875515	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp2 NA18906.hp1 HG03225.hp2 HG03453.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0001 a0001c0001t0003 a0003c0004t0001	a0001c0001t0003g0036 a0003c0004t0001g0056 a0003c0004t0001g0149 a0001c0001t0003g0036 a0003c0004t0001g0056 a0003c0004t0001g0149	3	254	0.0118	30	c.294 others(49): Show c.2949+5072_2949+5073insATATATATATATATATATATATATAT ATAT	FNIP2	ENSG00000052795.13	transcript	ENST00000264433.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
FNIP2_chr4_158764026_158913050	158875541	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	254	0.0039	30	c.294 others(49): Show c.2949+5072_2949+5073insATATATATATATATATATATATATAT ATGC	FNIP2	ENSG00000052795.13	transcript	ENST00000264433.11	protein_coding	14/16			chr4	TogoVar
FNTB_chr14_64981895_65067650	65040285	A A	ATATATAT others(23): Show ATATATATATATATGTATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	360	0.0028	30	c.693 others(45): Show c.693-494_693-493insATGTATATATATGTGTGTGTATATATATAT	FNTB	ENSG00000257365.8	transcript	ENST00000246166.3	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
FOCAD_chr9_20679259_21000950	20986266	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG02698.hp2 HG02818.hp2 others(4): Show HG02055.hp1 HG02698.hp2 HG02818.hp2 HG03098.hp2 HG03490.hp2 HG03491.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0020 a0002c0002 a0002c0020	a0002c0002t0001 a0002c0002t0005 a0002c0020t0001 a0002c0002t0001 a0002c0002t0005 a0002c0020t0001	a0002c0002t0001g0051 a0002c0002t0001g0058 a0002c0002t0001g0242 others(4): Show a0002c0002t0001g0051 a0002c0002t0001g0058 a0002c0002t0001g0242 a0002c0002t0001g0254 a0002c0002t0001g0269 a0002c0002t0005g0084 a0002c0020t0001g0006	7	320	0.0219	30	c.472 others(43): Show c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	FOCAD	ENSG00000188352.13	transcript	ENST00000338382.11	protein_coding	39/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
FOLR1_chr11_72187140_72201299	72201272	A A	ATACACGT others(23): Show ATACACGTATACACGTATACACGTATACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	30	c.50 others(41): Show c.5095_*5096insTACACGTATACACGTATACACGTATACACG	FOLR1	ENSG00000110195.14	transcript	ENST00000393676.5	protein_coding		4974		chr11	TogoVar
FOSL2_chr2_28387858_28422317	28396813	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02622.hp1 HG02897.hp2 others(2): Show HG01934.hp2 HG02622.hp1 HG02897.hp2 HG03139.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0026 a0001c0001t0005g0205 a0001c0001t0015g0058 a0001c0001t0005g0026 a0001c0001t0005g0205 a0001c0001t0015g0058	5	364	0.0137	30	c.102 others(47): Show c.102+3016_102+3017insCACAAACACACACACACACACACACACA CA	FOSL2	ENSG00000075426.12	transcript	ENST00000264716.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
FOXD2_chr1_47433044_47445691	47435550	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	30	c.-25 others(41): Show c.-2586_-2585insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	FOXD2	ENSG00000186564.6	transcript	ENST00000334793.6	protein_coding		2493		chr1	TogoVar
FOXD4L3_chr9_68297867_68310084	68305259	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0000 a0005c0006t0001g0000	1	175	0.0057	30	c.10 others(41): Show c.1054_*1055insTATATATATATATATATATATATATATATA	FOXD4L3	ENSG00000187559.6	transcript	ENST00000342833.4	protein_coding		176		chr9	TogoVar
FOXI1_chr5_170100897_170114734	170105348	G G	GGAGAGGG others(23): Show GGAGAGGGGGGGGGGGGGGGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01978.hp2 NA18990.hp1 HG00438.hp1 HG01978.hp2 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	3	412	0.0073	30	c.-61 others(39): Show c.-610_-609insGAGAGGGGGGGGGGGGGGGAGAGAGAGAGA	FOXI1	ENSG00000168269.10	transcript	ENST00000306268.8	protein_coding		548		chr5	TogoVar
FOXI1_chr5_170100897_170114734	170105348	G G	GGAGAGGG others(23): Show GGAGAGGGGGGGGGGGGGGGGGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	412	0.0024	30	c.-61 others(39): Show c.-610_-609insGAGAGGGGGGGGGGGGGGGGGAGAGAGAGA	FOXI1	ENSG00000168269.10	transcript	ENST00000306268.8	protein_coding		548		chr5	TogoVar
FOXI1_chr5_170100897_170114734	170105348	G G	GGAGAGGG others(23): Show GGAGAGGGGGGGGGGGGGGGGGGGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	412	0.0024	30	c.-61 others(39): Show c.-610_-609insGAGAGGGGGGGGGGGGGGGGGGGAGAGAGA	FOXI1	ENSG00000168269.10	transcript	ENST00000306268.8	protein_coding		548		chr5	TogoVar
FOXI1_chr5_170100897_170114734	170105356	G G	GGGGGGGG others(23): Show GGGGGGGGGGGGGGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	412	0.0024	30	c.-60 others(39): Show c.-602_-601insGGGGGGGGGGGGGAGAGAGAGAGAGAGAGA	FOXI1	ENSG00000168269.10	transcript	ENST00000306268.8	protein_coding		540		chr5	TogoVar
FOXI1_chr5_170100897_170114734	170105368	G G	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01168.hp2 HG01358.hp1 others(6): Show HG00642.hp2 HG01168.hp2 HG01358.hp1 HG01361.hp2 NA18940.hp2 NA18953.hp1 NA19011.hp1 NA19062.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	9	412	0.0218	30	c.-59 others(39): Show c.-590_-589insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	FOXI1	ENSG00000168269.10	transcript	ENST00000306268.8	protein_coding		528		chr5	TogoVar
FOXI1_chr5_170100897_170114734	170105370	G G	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG03942.hp2 NA18956.hp1 HG02615.hp1 HG03942.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0001 a0001c0001t0006 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0006g0005 a0001c0001t0011g0001 a0001c0001t0001g0001 a0001c0001t0006g0005 a0001c0001t0011g0001	3	412	0.0073	30	c.-58 others(39): Show c.-588_-587insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	FOXI1	ENSG00000168269.10	transcript	ENST00000306268.8	protein_coding		526		chr5	TogoVar

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