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
EPDR1_chr7_37915640_37956936	37936007	T T	TATATATA others(91): Show TATATATATATATATATACACACACATATATATATATATACACATATATA TATATACACATATATATATACACATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0394 a0001c0001t0001g0394	1	445	0.0022	98	c.270 others(117): Show c.270-12816_270-12815insCACACACATATATATATATATACACA TATATATATATACACATATATATATACACATATATATATATATATATACA CACACATATATATATATATATA		EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
ERFL_chr19_41902704_41933449	41914956	A A	ATCTCTGT others(91): Show ATCTCTGTCTCTGTCTCTCCCTCCCCCTCCAGCATCTCTGTCTCTCCCTC CCCTCCATCATCTCCGTCTCTGTCTCTCCCTCCCCCTCCACCATCTCCG	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18906.hp2 HG02970.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0012 a0001c0002 a0004c0012	a0001c0002t0002 a0004c0012t0002 a0001c0002t0002 a0004c0012t0002	a0001c0002t0002g0115 a0004c0012t0002g0116 a0001c0002t0002g0115 a0004c0012t0002g0116	2	328	0.0061	98	c.-13 others(115): Show c.-13-2025_-13-2024insCGGAGATGGTGGAGGGGGAGGGAGAGAC AGAGACGGAGATGATGGAGGGGAGGGAGAGACAGAGATGCTGGAGGGGGA GGGAGAGACAGAGACAGAGA		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERICH1_chr8_659200_736224	696433	C C	CGCTCGCT others(91): Show CGCTCGCTCCTCTCACCCTTCACTCCTCTCCTTCCTCCCCATCAGCCTGC GCTCGCTCCTCTCACCCTTCACTCCTCTCCTTCCTCCCCATCAGCCTGT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	255	0.0039	98	c.170 others(115): Show c.170-3822_170-3821insACAGGCTGATGGGGAGGAAGGAGAGGAG TGAAGGGTGAGAGGAGCGAGCGCAGGCTGATGGGGAGGAAGGAGAGGAGT GAAGGGTGAGAGGAGCGAGC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERMARD_chr6_169746622_169786600	169781754	A A	AAGTGGTC others(91): Show AAGTGGTCGGTGTGAGTCTCAGTCTGCAGTCTTCTGATGTACCCTTTCCG AGTGGTCGGTGTGAGTCTCACTCTGCAGTCTTCTGATTTGCCCTTTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0082 a0001c0005t0001g0082	1	377	0.0027	98	c.24 others(107): Show c.241_*242insAGTGGTCGGTGTGAGTCTCAGTCTGCAGTCTTCTGA TGTACCCTTTCCGAGTGGTCGGTGTGAGTCTCACTCTGCAGTCTTCTGAT TTGCCCTTTCCG		ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding					155		chr6	TogoVar
ERMARD_chr6_169746622_169786600	169782333	G G	GCCCTTTC others(91): Show GCCCTTTCCGAGTGGTCGGTGTGAGTCTCAGTCTGCAGTCTTCTGATGTA CCCTTTCCGAGTGGTCGGTGTGAGTCTCACCCTGCAGTCTTCTGGTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02257.hp1 NA18947.hp1 others(9): Show HG01074.hp1 HG02257.hp1 NA18947.hp1 NA18948.hp1 NA18953.hp2 NA18973.hp1 NA19060.hp2 NA19065.hp2 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA20752.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0010 a0002c0003t0001g0130 a0002c0003t0001g0131 others(2): Show a0002c0003t0001g0010 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133	12	290	0.0414	98	c.82 others(107): Show c.820_*821insCCCTTTCCGAGTGGTCGGTGTGAGTCTCAGTCTGCA GTCTTCTGATGTACCCTTTCCGAGTGGTCGGTGTGAGTCTCACCCTGCAG TCTTCTGGTTTA		ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding					734		chr6	TogoVar
ERO1B_chr1_236210101_236286958	236239813	A A	ATATATAT others(91): Show ATATATATATATATATATGTGTGTATATATATATATGTGTATATATATGT ATATATATATGTGTATATATATGTATATATATATGTGTATATATATGTG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	387	0.0026	98	c.506 others(115): Show c.506-3416_506-3415insCACATATATATACACATATATATATACA TATATATACACATATATATATACATATATATACACATATATATATATACA CACATATATATATATATATA		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	6/15						chr1	TogoVar
ESPNL_chr2_238095340_238138287	238098581	C C	CCGCCCAC others(91): Show CCGCCCACATGGGACCGCCCACATAGAACCGTCCACATGGGACCGCCCAC ATGGGAACGCCCACATAGAACCGCCCACATAGGACCGCCCACATGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0015 a0003c0013t0015	a0003c0013t0015g0157 a0003c0013t0015g0157	1	274	0.0036	98	c.-18 others(109): Show c.-1839_-1838insCGCCCACATGGGACCGCCCACATAGAACCGTCCA CATGGGACCGCCCACATGGGAACGCCCACATAGAACCGCCCACATAGGAC CGCCCACATGGGAA		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1758		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098598	C C	CCCACATA others(91): Show CCCACATAGGACCGCCCACATAGAACCGCCCACATGGGAACGCCCACATA GGACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATAGAACCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01099.hp2 HG02257.hp1 others(4): Show HG00642.hp1 HG01099.hp2 HG02257.hp1 HG02280.hp1 HG02976.hp1 HG03139.hp1 NA19030.hp2	a0001 a0006 a0001 a0006	a0001c0005 a0006c0006 a0001c0005 a0006c0006	a0001c0005t0003 a0006c0006t0003 a0001c0005t0003 a0006c0006t0003	a0001c0005t0003g0012 a0001c0005t0003g0049 a0001c0005t0003g0094 others(2): Show a0001c0005t0003g0012 a0001c0005t0003g0049 a0001c0005t0003g0094 a0001c0005t0003g0097 a0006c0006t0003g0003	7	399	0.0175	98	c.-18 others(109): Show c.-1822_-1821insCCACATAGGACCGCCCACATAGAACCGCCCACAT GGGAACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGGGACCGC CCACATAGAACCGT		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1741		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098605	A A	AGGACCGC others(91): Show AGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATAGGACCGC CCACATGGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0009 a0003c0035t0009	a0003c0035t0009g0252 a0003c0035t0009g0252	1	211	0.0047	98	c.-18 others(109): Show c.-1815_-1814insGGACCGCCCACATGGGACCGCCCACATGGGACCG CCCACATAGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATG GGACCGCCCACATG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1734		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098609	C C	CCGCCCAC others(91): Show CCGCCCACATGGGACCGCCCACATGGGAACGCCCACATAGGACCGCCCAC ATGGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0109 a0001c0109	a0001c0109t0001 a0001c0109t0001	a0001c0109t0001g0221 a0001c0109t0001g0221	1	296	0.0034	98	c.-18 others(109): Show c.-1811_-1810insCGCCCACATGGGACCGCCCACATGGGAACGCCCA CATAGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATGGGAC CGCCCACATGGGAA		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1730		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098619	G G	GGGACCGC others(91): Show GGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATAGGACCGC CCACATAGGACCGCCCACATGGGACCGCCCACATAGAACCGTCCACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0072 a0005c0007t0001g0072	1	361	0.0028	98	c.-18 others(109): Show c.-1801_-1800insGGACCGCCCACATGGGACCGCCCACATGGGACCG CCCACATAGGACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATA GAACCGTCCACATA		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1720		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098623	C C	CCGCCCAC others(91): Show CCGCCCACATGGGACCGCCCACATAGGACCGCCCACATGGGACCGCCCAC ATGGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0004 a0002c0011t0002g0004	1	351	0.0028	98	c.-17 others(109): Show c.-1797_-1796insCGCCCACATGGGACCGCCCACATAGGACCGCCCA CATGGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATGGGAC CGCCCACATGGGAA		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1716		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098640	C C	CCCACATG others(91): Show CCCACATGGGACCGCCCACATAGAACCGCCCACATAGGACCGCCCACATG GGAACGCCCACATGGGACCGCCCACATGGGACCGCCCACATAGAACCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0291 a0004c0003t0005g0291	1	345	0.0029	98	c.-17 others(109): Show c.-1780_-1779insCCACATGGGACCGCCCACATAGAACCGCCCACAT AGGACCGCCCACATGGGAACGCCCACATGGGACCGCCCACATGGGACCGC CCACATAGAACCGT		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1699		chr2	TogoVar
EXOC6_chr10_92843520_93064490	92975950	C C	CCCGTCCG others(91): Show CCCGTCCGGGAGGGAGGAGGGGGGGTCAGCCCCCCGCCCGACCAGCTGCC CCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCTGCCAGCCGCT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18946.hp2 NA18953.hp1 others(9): Show NA18939.hp2 NA18946.hp2 NA18953.hp1 NA18956.hp2 NA18961.hp1 NA18966.hp2 NA18970.hp2 NA18973.hp2 NA18983.hp1 NA19010.hp1 NA19060.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0058 a0001c0001t0001g0059 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0009t0001g0001	12	285	0.0421	98	c.195 others(117): Show c.1953+1726_1953+1727insGAGGGAGGAGGGGGGGTCAGCCCCCC GCCCGACCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCCTGCCAGCCGCTCCGTCCGG		EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	18/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOC6_chr10_92843520_93064490	92975950	C C	CCCGTCTG others(91): Show CCCGTCTGGGAGGGAGGAGGGGGGGTCAGCCCCCCGCCCGACCAGCTGCC CCGTCCGGGAGGGAGGTTGGGGGATCAGCCCCCCGCCCTGCCAGCCGCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0281 a0001c0001t0006g0281	1	274	0.0036	98	c.195 others(117): Show c.1953+1723_1953+1724insTGGGAGGGAGGAGGGGGGGTCAGCCC CCCGCCCGACCAGCTGCCCCGTCCGGGAGGGAGGTTGGGGGATCAGCCCC CCGCCCTGCCAGCCGCTCCGTC		EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	18/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
EYS_chr6_63714980_65712226	64295412	A A	AAGGAGAG others(91): Show AAGGAGAGGAAGGAGAGGAAGGAGAAGGAGGAGGAGGAGGAGGAGGAGAA GAAGAAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0001 a0018c0018t0001	a0018c0018t0001g0007 a0018c0018t0001g0007	1	12	0.0833	98	c.619 others(119): Show c.6191+11557_6191+11558insCTTCTTCTTCTCCTTCTCCTTCTC CTCCTCCTCCTCCTCCTCCTTCTTCTTCTCCTCCTCCTCCTCCTCCTCCT TCTCCTTCCTCTCCTTCCTCTCCT		EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	30/42						chr6	TogoVar
FAF2_chr5_176443385_176515074	176451819	T T	TATATACA others(91): Show TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	268	0.0037	98	c.63+ others(113): Show c.63+3354_63+3355insCATATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATA		FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
FAIM_chr3_138603771_138638376	138609533	A A	ACTCTCTC others(91): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCCCTCTCTCTCTCCCTCCTCTCTCCCTCTCTCTCCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0139 a0003c0003t0001g0139	1	324	0.0031	98	c.-17 others(113): Show c.-17+639_-17+640insTCTCTCTCTCTCCCTCTCTCTCTCCCTCCT CTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTC		FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609547	T T	TCTCTCTC others(91): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0129 a0002c0002t0001g0129	1	275	0.0036	98	c.-17 others(113): Show c.-17+639_-17+640insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCCTCTCTCTCTC TCTCTCTCTCTCTCTCTC		FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609553	T T	TCTCTCTC others(91): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCCCCCTCCCTCCCTCCCTC CCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	361	0.0028	98	c.-17 others(113): Show c.-17+639_-17+640insTCTCCCTCCCCCTCCCTCCCTCCCTCCCTC TCCCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGACTCTC TCTCTCTCTCTCTCTCTC		FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609553	T T	TCTCTCTC others(91): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCCCCCTCCCTCCCTCCC TCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	361	0.0028	98	c.-17 others(113): Show c.-17+639_-17+640insTCTCTCCCTCCCCCTCCCTCCCTCCCTCCC TCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGACTCTC TCTCTCTCTCTCTCTCTC		FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
FAM161A_chr2_61819848_61859060	61848864	A A	ATATATAT others(91): Show ATATATATTTATATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01361.hp1 HG01981.hp2 others(3): Show HG01123.hp2 HG01361.hp1 HG01981.hp2 HG02258.hp1 HG03490.hp1 HG04199.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0003 a0003c0004t0003g0047 a0003c0004t0003g0109 others(2): Show a0003c0004t0003g0003 a0003c0004t0003g0047 a0003c0004t0003g0109 a0003c0004t0003g0173 a0003c0004t0003g0246	6	371	0.0162	98	c.183 others(115): Show c.183+4994_183+4995insAATATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATATAAATATATATAAATATATATATA AATATATATATAAATATATA		FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6						chr2	TogoVar
FAM174B_chr15_92612448_92660775	92631149	T T	TATATATT others(91): Show TATATATTATATATTACGTATTACATATTACATATTATATATTATATATT ACGTATTACATATTACATATTATATTATATATTACGTATTACATATTAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0041 a0001c0001t0019g0041	1	375	0.0027	98	c.345 others(113): Show c.345-805_345-804insGTAATATGTAATACGTAATATATAATATAA TATGTAATATGTAATACGTAATATATAATATATAATATGTAATATGTAAT ACGTAATATATAATATAT		FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2						chr15	TogoVar
FAM83F_chr22_39989954_40048534	40007327	T T	TCCTCTCC others(91): Show TCCTCTCCTCCTCTCCCTTTCTTCTTCCTCTCCTCCTCTTCTCCTCCTCT CCTCTTCCTGTCCTCCTCCTCCTCTCCTCTTCCTCCTCCTCTTCTCCTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA20129.hp1 HG02818.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0041 a0001c0001t0040 a0001c0001t0041	a0001c0001t0040g0122 a0001c0001t0041g0124 a0001c0001t0040g0122 a0001c0001t0041g0124	2	73	0.0274	98	c.489 others(117): Show c.489+11797_489+11798insCTCTCCTCCTCTCCCTTTCTTCTTCC TCTCCTCCTCTTCTCCTCCTCTCCTCTTCCTGTCCTCCTCCTCCTCTCCT CTTCCTCCTCCTCTTCTCCTCC		FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr22	TogoVar
FBN2_chr5_128252909_128543245	128539892	G G	GATCTATC others(91): Show GATCTATCATATATATCATATATCATATATATCATATATATGATAGATCA TATATATCATATATCATATATATCATATATATCATATATCATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0082 a0002c0004t0002g0082	1	184	0.0054	98	c.-22 others(109): Show c.-2290_-2289insGATATATATGATATATGATATATATGATATATAT GATATATGATATATATGATCTATCATATATATGATATATATGATATATGA TATATATGATAGAT		FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding					1648		chr5	TogoVar
FBN2_chr5_128252909_128543245	128539931	C C	CATATATC others(91): Show CATATATCATATATCATATATATGATATATATGATAGATCATATATGATC TATCATATATATCATATATCATATATATCATATATATCATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01978.hp1 HG01978.hp2 others(4): Show HG01109.hp2 HG01978.hp1 HG01978.hp2 NA18990.hp1 NA19003.hp2 NA19058.hp2 NA19065.hp2	a0001 a0011 a0014 a0001 a0011 a0014	a0001c0001 a0001c0003 a0011c0024 others(1): Show a0001c0001 a0001c0003 a0011c0024 a0014c0056	a0001c0001t0001 a0001c0003t0001 a0011c0024t0007 others(1): Show a0001c0001t0001 a0001c0003t0001 a0011c0024t0007 a0014c0056t0001	a0001c0001t0001g0171 a0001c0003t0001g0177 a0001c0003t0001g0180 others(4): Show a0001c0001t0001g0171 a0001c0003t0001g0177 a0001c0003t0001g0180 a0001c0003t0001g0182 a0011c0024t0007g0121 a0011c0024t0007g0122 a0014c0056t0001g0188	7	111	0.0631	98	c.-23 others(109): Show c.-2329_-2328insATGATATATATGATATATATGATATATATGATAT ATGATATATATGATAGATCATATATGATCTATCATATATATCATATATAT GATATATGATATAT		FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding					1687		chr5	TogoVar
FBN2_chr5_128252909_128543245	128539967	T T	TATATCAT others(91): Show TATATCATATATATCATATATATGATAGATCATATATATCATATATATCA TATATATCATATATATCATATATCATATATATCACATATCATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03139.hp2 HG01884.hp1 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0002c0004t0002 a0001c0001t0005 a0002c0004t0002	a0001c0001t0005g0087 a0002c0004t0002g0086 a0001c0001t0005g0087 a0002c0004t0002g0086	2	205	0.0098	98	c.-23 others(109): Show c.-2365_-2364insGATATATATGATATGTGATATATATGATATATGA TATATATGATATATATGATATATATGATATATATGATCTATCATATATAT GATATATATGATAT		FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding					1723		chr5	TogoVar
FBN3_chr19_8060402_8154592	8086068	A A	AGGGAACA others(91): Show AGGGAACAGGCAGTGGGAGGGACAGGGAGTGAAGGGGGCAGGCAGTGGGG GGAACAGGCAGTGGGGGGGGACAGGCAGTGGGGGGGGACAGGCAGTGGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0145 a0145	a0145c0155 a0145c0155	a0145c0155t0001 a0145c0155t0001	a0145c0155t0001g0022 a0145c0155t0001g0022	1	305	0.0033	98	c.688 others(115): Show c.6880+131_6880+132insCCCACTGCCTGTCCCCCCCCACTGCCTG TCCCCCCCCACTGCCTGTTCCCCCCACTGCCTGCCCCCTTCACTCCCTGT CCCTCCCACTGCCTGTTCCC		FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	55/63						chr19	TogoVar
FBN3_chr19_8060402_8154592	8086105	G G	GCAGGCAG others(91): Show GCAGGCAGTGGGGGGAACAGGCAGTGGGAGGGACAGGGAGTGAAGGGGGC AGGCAGTGGAGGGAACAGGCAGTGGGGGGGGACAGGCAGTGGGGGGGGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0144 a0144	a0144c0130 a0144c0130	a0144c0130t0001 a0144c0130t0001	a0144c0130t0001g0053 a0144c0130t0001g0053	1	329	0.0030	98	c.688 others(113): Show c.6880+94_6880+95insTCCCCCCCCACTGCCTGTCCCCCCCCACTG CCTGTTCCCTCCACTGCCTGCCCCCTTCACTCCCTGTCCCTCCCACTGCC TGTTCCCCCCACTGCCTG		FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	55/63						chr19	TogoVar
FBXO15_chr18_74068368_74152834	74118417	T T	TATATATA others(91): Show TATATATATATGTGTATATACACATATATATATATATGTGTATATACACA TATATATATATATGTGTATATACACATATATATATATGTGTATATACAC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	282	0.0035	98	c.113 others(117): Show c.1138+4950_1138+4951insGTGTATATACACATATATATATATGT GTATATACACATATATATATATATGTGTATATACACATATATATATATAT GTGTATATACACATATATATAT		FBXO15	ENSG00000141665.13	transcript	ENST00000419743.7	protein_coding	8/9						chr18	TogoVar
FER1L5_chr2_96637764_96709883	96659509	C C	CTTTCTTT others(91): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0139 a0005c0007t0001g0139	1	98	0.0102	98	c.748 others(113): Show c.748-832_748-831insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTT		FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52						chr2	TogoVar
FGD2_chr6_37000655_37034069	37012986	G G	GTGTATAC others(91): Show GTGTATACATATATATACGTATATATACACGTATATATACGTATATATAT ACGTGTATATATGTATATATACGTGTATATACACGTATATATACGTGTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02132.hp2 HG02280.hp1 others(5): Show HG00408.hp2 HG02132.hp2 HG02280.hp1 HG02572.hp2 HG02818.hp1 HG02970.hp1 NA18747.hp2 NA18955.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0008 a0002c0003 a0002c0004 a0002c0008	a0002c0003t0002 a0002c0004t0001 a0002c0004t0024 others(2): Show a0002c0003t0002 a0002c0004t0001 a0002c0004t0024 a0002c0008t0009 a0002c0008t0019	a0002c0003t0002g0161 a0002c0003t0002g0162 a0002c0003t0002g0163 others(4): Show a0002c0003t0002g0161 a0002c0003t0002g0162 a0002c0003t0002g0163 a0002c0004t0001g0045 a0002c0004t0024g0164 a0002c0008t0009g0159 a0002c0008t0019g0160	8	306	0.0261	98	c.528 others(113): Show c.528-622_528-621insGTATACATATATATACGTATATATACACGT ATATATACGTATATATATACGTGTATATATGTATATATACGTGTATATAC ACGTATATATACGTGTAT		FGD2	ENSG00000146192.15	transcript	ENST00000274963.13	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
FGF13_chrX_138609727_138716717	138625486	T T	TATATATA others(91): Show TATATATATATACATATATATATATAATATATATATACATATATATATAT AATATATATATACATATATATATATAATATATATATACATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03516.hp1 HG03579.hp1 HG03516.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0020 a0001c0001t0025g0020	2	236	0.0085	98	c.73 others(109): Show c.7363_*7364insTATATATATATGTATATATATATTATATATATAT ATGTATATATATATTATATATATATATGTATATATATATTATATATATAT ATGTATATATATAT		FGF13	ENSG00000129682.16	transcript	ENST00000315930.11	protein_coding	5/5				7363		chrX	TogoVar
FGGY_chr1_59292094_59767730	59337048	C C	CATATATA others(91): Show CATATATATATATTTATATGTATATAGTCATATATATATATTTATATGTA TATAGTCATATATATATATTTATATGTATATAGTCATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	77	0.0130	98	c.202 others(115): Show c.202-2898_202-2897insTTATATGTATATAGTCATATATATATAT TTATATGTATATAGTCATATATATATATTTATATGTATATAGTCATATAT ATATATATATATATATATAT		FGGY	ENSG00000172456.18	transcript	ENST00000303721.12	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
FLT1_chr13_28295346_28500128	28453025	C C	CCCCTCCC others(91): Show CCCCTCCCTCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0211 a0001c0005t0002g0211	1	210	0.0048	98	c.388 others(117): Show c.388+13877_388+13878insAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGGGAGGGGGAGGGGGAG GGGGAGGGGGGGAGAGGGAGGG		FLT1	ENSG00000102755.13	transcript	ENST00000282397.9	protein_coding	3/29						chr13	TogoVar
FLT3_chr13_27998274_28105576	27998770	A A	AATAACCT others(91): Show AATAACCTATATATATAATAAGATATATTTATATATAAATATATATATAT ATATTTATATATAAATATATGTTATTTATATAAATATATTATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0236 a0003c0003t0001g0236	1	290	0.0034	98	c.52 others(109): Show c.5281_*5282insAATATATATAATATATTTATATAAATAACATATA TTTATATATAAATATATATATATATATTTATATATAAATATATCTTATTA TATATATAGGTTAT		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding					4503		chr13	TogoVar
FLT3_chr13_27998274_28105576	27998891	T T	TTATATAT others(91): Show TTATATATATTTATATATATTTATATACATATAAATATATATTTATATAC ATATAAATATATATATACATATAAATATATATATTTATATACATATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01106.hp1 HG02738.hp1 others(1): Show HG00323.hp2 HG01106.hp1 HG02738.hp1 NA18960.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0004c0005t0002 a0001c0001t0001 a0002c0002t0001 a0004c0005t0002	a0001c0001t0001g0042 a0002c0002t0001g0003 a0002c0002t0001g0156 others(1): Show a0001c0001t0001g0042 a0002c0002t0001g0003 a0002c0002t0001g0156 a0004c0005t0002g0198	4	249	0.0161	98	c.51 others(109): Show c.5160_*5161insTTTATATGTATATAAATATATATATTTATATGTA TATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATA TATAAATATATATA		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding					4382		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999000	A A	AATATATG others(91): Show AATATATGTATATACATATAAATATATATGTATATACATATAAATATATA TGTATATACATATATATATGTATATACATATATATATATGTATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0044 a0003c0044	a0003c0044t0001 a0003c0044t0001	a0003c0044t0001g0285 a0003c0044t0001g0285	1	254	0.0039	98	c.50 others(109): Show c.5051_*5052insATGTATATACATATATATATATGTATATACATAT ATATATGTATATACATATATATTTATATGTATATACATATATATTTATAT GTATATACATATAT		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding					4273		chr13	TogoVar
FOXK2_chr17_82514732_82609602	82586178	T T	TGGAGACC others(91): Show TGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGG	frameshift_variant frameshift_variant	HIGH	NA19080.hp2 NA19080.hp2	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0039 a0020c0022t0039	a0020c0022t0039g0288 a0020c0022t0039g0288	1	306	0.0033	98	c.156 others(107): Show c.1568_1569insGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGG AGACCACAGGGA	p.Val others(5): Show p.Val526fs	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/9	1726/5243	1569/1983	523/660		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586209	A A	AGGGGAAA others(91): Show AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	248	0.0040	98	c.157 others(113): Show c.1576+40_1576+41insAGTCAAAGGTGGGCCGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGA		FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
FREM1_chr9_14732152_14915428	14860863	A A	ATATATAC others(91): Show ATATATACGTATATATACATATATACGTATATATACATATATACGTATAT ATACACGTATATACGTATATATATACGTATATATACGTATATATATACG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03195.hp2 HG01891.hp2 HG03195.hp2	a0007 a0087 a0007 a0087	a0007c0057 a0087c0142 a0007c0057 a0087c0142	a0007c0057t0003 a0087c0142t0007 a0007c0057t0003 a0087c0142t0007	a0007c0057t0003g0089 a0087c0142t0007g0205 a0007c0057t0003g0089 a0087c0142t0007g0205	2	331	0.0060	98	c.330 others(115): Show c.330-1380_330-1379insCGTATATATATACGTATATATACGTATA TATATACGTATATACGTGTATATATACGTATATATGTATATATACGTATA TATGTATATATACGTATATA		FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	3/36						chr9	TogoVar
FRMD3_chr9_83239622_83543401	83479626	A A	AGGAAAGA others(91): Show AGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0109 a0001c0001t0012g0109	1	237	0.0042	98	c.147 others(117): Show c.147+58458_147+58459insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCC		FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13						chr9	TogoVar
FRMD3_chr9_83239622_83543401	83479630	A A	AAGAAAGA others(91): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp1 HG00735.hp2 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0064 a0001c0001t0001 a0001c0002t0064	a0001c0001t0001g0188 a0001c0002t0064g0192 a0001c0001t0001g0188 a0001c0002t0064g0192	2	209	0.0096	98	c.147 others(117): Show c.147+58454_147+58455insCTCCCTCCCTCCCTCCCTCCCTCCCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT		FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13						chr9	TogoVar
FRMD3_chr9_83239622_83543401	83479630	A A	AAGAAAGA others(91): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	208	0.0048	98	c.147 others(117): Show c.147+58454_147+58455insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT		FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13						chr9	TogoVar
FRMD3_chr9_83239622_83543401	83479630	A A	AAGAAAGA others(91): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0077 a0002c0003t0008g0077	1	208	0.0048	98	c.147 others(117): Show c.147+58454_147+58455insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT		FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13						chr9	TogoVar
FRMD3_chr9_83239622_83543401	83479630	A A	AAGAAAGA others(91): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0115 a0001c0001t0055g0115	1	208	0.0048	98	c.147 others(117): Show c.147+58454_147+58455insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT		FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13						chr9	TogoVar
FRMD3_chr9_83239622_83543401	83479630	A A	AAGAAAGA others(91): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0035 a0001c0001t0009g0035	1	208	0.0048	98	c.147 others(117): Show c.147+58454_147+58455insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT		FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13						chr9	TogoVar
FRMD4A_chr10_13638706_14335924	13653830	A A	ATGCAAAC others(91): Show ATGCAAACATGTCAAGCTATCAAAGGGAGCTGCCTTTCGGTTTCATTAAT TTTGTTGTGTGCAGCTTCCACTGAAGGCTTCAGGGCACCTGATCTCTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02622.hp1 others(8): Show HG02258.hp1 HG02280.hp2 HG02622.hp1 HG02970.hp1 HG02976.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 NA18522.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0026 a0001c0002t0025	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0062 others(8): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0118 a0001c0001t0009g0047 a0001c0001t0009g0055 a0001c0001t0009g0098 a0001c0001t0009g0099 a0001c0001t0026g0120 a0001c0002t0025g0063	11	134	0.0821	98	c.305 others(115): Show c.3050+488_3050+585dupAAAGAGATCAGGTGCCCTGAAGCCTTCA GTGGAAGCTGCACACAACAAAATTAATGAAACCGAAAGGCAGCTCCCTTT GATAGCTTGACATGTTTGCA		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	23/24						chr10	TogoVar
FRMD5_chr15_43865764_44200271	43999923	G G	GTATATAT others(91): Show GTATATATATATATATATATGCCATGCATATATATATATATATATGCCAT GCATATATATATATATATGCCATGCATATATATATATATATGCCATGCA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	69	0.0145	98	c.103 others(117): Show c.103-75615_103-75614insTGCATGGCATATATATATATATATGC ATGGCATATATATATATATATGCATGGCATATATATATATATATATGCAT GGCATATATATATATATATATA		FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13						chr15	TogoVar
FRMD5_chr15_43865764_44200271	43999963	T T	TATATATA others(91): Show TATATATATATGCCATGCATATATATATATATATATGCCATGCATATATA TATATATATGCCATGCATATATATATATATATATATATATATGCCATGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	140	0.0071	98	c.103 others(117): Show c.103-75655_103-75654insGCATGGCATATATATATATATATATA TATATATGCATGGCATATATATATATATATGCATGGCATATATATATATA TATATGCATGGCATATATATAT		FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13						chr15	TogoVar

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