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
FRMD4A_chr10_13638706_14335924	13679472	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0131 a0001c0002t0017g0131	1	134	0.0075	18	c.111 others(37): Show c.1118-4429_1118-4428insGTGTGTGTGTGTGTGTGT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	15/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13679474	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	134	0.0075	18	c.111 others(37): Show c.1118-4448_1118-4431dupGTGTGTGTGTGTGTGTGT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	15/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13679474	T T	TATATACA others(11): Show TATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0120 a0001c0001t0026g0120	1	134	0.0075	18	c.111 others(37): Show c.1118-4431_1118-4430insGTGTGTGTGTGTGTATAT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	15/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13689215	G G	GGGTGGGG others(11): Show GGGTGGGGGGTGGGGGGGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01074.hp2 HG01256.hp2 others(14): Show HG00408.hp1 HG01074.hp2 HG01256.hp2 HG01516.hp1 HG01516.hp2 HG02132.hp2 HG02523.hp2 HG02622.hp2 HG02922.hp1 HG04184.hp1 NA18747.hp1 NA18957.hp2 NA18971.hp1 NA19065.hp1 NA19074.hp1 NA19074.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0010 a0001c0001 a0001c0003 a0004c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0027 a0001c0003t0001 a0001c0003t0003 a0004c0010t0012	a0001c0001t0001g0009 a0001c0001t0001g0031 a0001c0001t0001g0111 others(14): Show a0001c0001t0001g0009 a0001c0001t0001g0031 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0132 a0001c0001t0003g0104 a0001c0001t0004g0008 a0001c0001t0005g0030 a0001c0001t0005g0123 a0001c0001t0006g0035 a0001c0001t0007g0015 a0001c0001t0008g0022 a0001c0001t0013g0040 a0001c0001t0027g0097 a0001c0003t0001g0105 a0001c0003t0003g0080 a0004c0010t0012g0001	17	134	0.1269	18	c.111 others(37): Show c.1117+4682_1117+4683insACCCCCCCACCCCCCACC	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	15/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13689549	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	134	0.0075	18	c.111 others(37): Show c.1117+4331_1117+4348dupAAAAAAAAAAAAAAAAAA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	15/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13706749	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	134	0.0075	18	c.836 others(33): Show c.836+270_836+287dupGTGTGTGTGTGTGTGTGT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	13/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13728573	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03453.hp2 HG03471.hp2 HG02976.hp2 HG03453.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0028 a0001c0001t0001g0065 a0001c0001t0026g0120 a0001c0001t0001g0028 a0001c0001t0001g0065 a0001c0001t0026g0120	3	134	0.0224	18	c.759 others(35): Show c.759+9270_759+9271insAAAAAAAAAAAAAAAAAA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	12/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13789769	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03579.hp2 HG02258.hp2 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0011 a0001c0005 a0001c0011	a0001c0005t0003 a0001c0011t0002 a0001c0005t0003 a0001c0011t0002	a0001c0005t0003g0003 a0001c0011t0002g0101 a0001c0005t0003g0003 a0001c0011t0002g0101	2	134	0.0149	18	c.299 others(35): Show c.299+6709_299+6726dupCACACACACACACACACA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	5/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13902456	G G	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp1 HG02630.hp1 HG02922.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0003 a0004c0010t0012 a0001c0001t0003 a0004c0010t0012	a0001c0001t0003g0122 a0004c0010t0012g0001 a0001c0001t0003g0122 a0004c0010t0012g0001	2	134	0.0149	18	c.46- others(35): Show c.46-43562_46-43545dupTCTCTCTCTCTCTCTCTC	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13951929	T T	TAATAATA others(11): Show TAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0044 a0001c0001t0006g0044	1	134	0.0075	18	c.46- others(35): Show c.46-93018_46-93017insTTTATTATTATTATTATT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13955112	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	134	0.0075	18	c.46- others(35): Show c.46-96201_46-96200insAAAAAAAAAAAAAAAAAA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14008162	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	134	0.0075	18	c.46- others(37): Show c.46-149268_46-149251dupCACACACACACACACACA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14066008	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03688.hp2 HG02965.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0007 a0001c0001t0004g0016 a0001c0001t0002g0007 a0001c0001t0004g0016	2	134	0.0149	18	c.46- others(37): Show c.46-207114_46-207097dupCACACACACACACACACA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14110125	T T	TTAAAAAA others(11): Show TTAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18522.hp1 HG03579.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0009 a0002c0006t0010 a0001c0001t0009 a0002c0006t0010	a0001c0001t0009g0099 a0002c0006t0010g0058 a0001c0001t0009g0099 a0002c0006t0010g0058	2	134	0.0149	18	c.45+ others(37): Show c.45+219932_45+219933insTTTTTTTTTTTTTTTTTA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14127982	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0075 a0001c0001t0023g0075	1	134	0.0075	18	c.45+ others(37): Show c.45+202075_45+202076insAAGAAAGAAAGAAAGAAA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14129371	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0035 a0001c0001t0006g0035	1	134	0.0075	18	c.45+ others(37): Show c.45+200669_45+200686dupATATATATATATATATAT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14171732	T T	TACCTCAA others(11): Show TACCTCAATGCTTGCTTTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	134	0.0075	18	c.45+ others(37): Show c.45+158308_45+158325dupTAAAGCAAGCATTGAGGT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14184298	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03130.hp2 HG02055.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0005 a0001c0008t0001 a0001c0001t0005 a0001c0008t0001	a0001c0001t0005g0056 a0001c0008t0001g0061 a0001c0001t0005g0056 a0001c0008t0001g0061	2	134	0.0149	18	c.45+ others(37): Show c.45+145759_45+145760insAAAAAAAAAAAAAAAAAA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4B_chr3_69163782_69391088	69215284	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03927.hp2 HG04184.hp1 others(2): Show HG02027.hp2 HG03927.hp2 HG04184.hp1 NA18961.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0035 a0001c0001t0001 a0001c0001t0002 a0003c0003t0035	a0001c0001t0001g0006 a0001c0001t0001g0139 a0001c0001t0002g0020 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0139 a0001c0001t0002g0020 a0001c0001t0002g0128 a0003c0003t0035g0109	5	224	0.0223	18	c.876 others(33): Show c.876+961_876+978dupAAAAAAAAAAAAAAAAAA	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	11/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69293880	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0135 a0002c0002t0027g0135	1	224	0.0045	18	c.417 others(35): Show c.417-6062_417-6045dupTTTTTTTTTTTTTTTTTT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	4/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69314138	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02976.hp2 HG03225.hp1 others(1): Show HG02647.hp2 HG02976.hp2 HG03225.hp1 HG03579.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0024 a0001c0001 a0013c0024	a0001c0001t0002 a0001c0001t0010 a0013c0024t0005 a0001c0001t0002 a0001c0001t0010 a0013c0024t0005	a0001c0001t0002g0083 a0001c0001t0002g0200 a0001c0001t0010g0196 others(1): Show a0001c0001t0002g0083 a0001c0001t0002g0200 a0001c0001t0010g0196 a0013c0024t0005g0178	4	224	0.0179	18	c.163 others(33): Show c.163-639_163-622dupTTTTTTTTTTTTTTTTTT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	1/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69325085	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02258.hp1 HG03239.hp2 HG01981.hp2 HG02258.hp1 HG03239.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0031 a0001c0001t0002 a0003c0003t0031	a0001c0001t0002g0172 a0001c0001t0002g0191 a0003c0003t0031g0072 a0001c0001t0002g0172 a0001c0001t0002g0191 a0003c0003t0031g0072	3	224	0.0134	18	c.163 others(37): Show c.163-11569_163-11568insCTTTCTTTCTTTCTTTCT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	1/22			chr3	TogoVar
FRMD5_chr15_43865764_44200271	43875363	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0097 a0001c0002t0002g0097	1	146	0.0069	18	c.113 others(35): Show c.1136-902_1136-901insATATATATATATATATTT	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	13/13			chr15	TogoVar
FRMD5_chr15_43865764_44200271	43914723	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02976.hp1 HG02630.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0022 a0001c0002t0001 a0001c0001t0022 a0001c0002t0001	a0001c0001t0022g0145 a0001c0002t0001g0042 a0001c0001t0022g0145 a0001c0002t0001g0042	2	146	0.0137	18	c.329 others(35): Show c.329+4718_329+4735dupAAAAAAAAAAAAAAAAAA	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	4/13			chr15	TogoVar
FRMD7_chrX_132071990_132133020	132107604	G G	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00639.hp1 others(6): Show HG00099.hp1 HG00280.hp1 HG00639.hp1 HG01175.hp1 HG01515.hp1 HG01517.hp2 HG03491.hp2 HG03654.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0003 a0001c0005t0002 a0001c0003t0003 a0001c0005t0002	a0001c0003t0003g0005 a0001c0003t0003g0017 a0001c0003t0003g0162 others(3): Show a0001c0003t0003g0005 a0001c0003t0003g0017 a0001c0003t0003g0162 a0001c0003t0003g0175 a0001c0005t0002g0153 a0001c0005t0002g0154	9	209	0.0431	18	c.58- others(33): Show c.58-6906_58-6889dupTCTCTCTCTCTCTCTCTC	FRMD7	ENSG00000165694.11	transcript	ENST00000298542.9	protein_coding	1/11			chrX	TogoVar
FRMPD1_chr9_37645954_37751904	37667062	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0012 a0012	a0012c0050 a0012c0050	a0012c0050t0001 a0012c0050t0001	a0012c0050t0001g0137 a0012c0050t0001g0137	1	334	0.0030	18	c.-5+ others(35): Show c.-5+15984_-5+15985insTTTTTTTTTTTTTTTTTT	FRMPD1	ENSG00000070601.10	transcript	ENST00000377765.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
FRMPD1_chr9_37645954_37751904	37717341	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0021 a0021	a0021c0027 a0021c0027	a0021c0027t0001 a0021c0027t0001	a0021c0027t0001g0052 a0021c0027t0001g0052	1	334	0.0030	18	c.409 others(35): Show c.409-1716_409-1699dupGTGTGTGTGTGTGTGTGT	FRMPD1	ENSG00000070601.10	transcript	ENST00000377765.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
FRMPD2_chr10_48151562_48279696	48181858	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00735.hp2 others(17): Show HG00323.hp1 HG00408.hp2 HG00735.hp2 HG01069.hp1 HG01192.hp1 HG01255.hp1 HG01433.hp1 HG02647.hp2 HG02723.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03225.hp2 HG03704.hp2 HG03927.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19063.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010	a0001c0001 a0002c0002 a0002c0038 others(7): Show a0001c0001 a0002c0002 a0002c0038 a0003c0003 a0004c0008 a0005c0004 a0006c0006 a0009c0010 a0009c0041 a0010c0009	a0001c0001t0002 a0002c0002t0001 a0002c0038t0001 others(7): Show a0001c0001t0002 a0002c0002t0001 a0002c0038t0001 a0003c0003t0001 a0004c0008t0001 a0005c0004t0001 a0006c0006t0001 a0009c0010t0001 a0009c0041t0001 a0010c0009t0001	a0001c0001t0002g0074 a0002c0002t0001g0039 a0002c0002t0001g0127 others(17): Show a0001c0001t0002g0074 a0002c0002t0001g0039 a0002c0002t0001g0127 a0002c0002t0001g0174 a0002c0002t0001g0215 a0002c0038t0001g0142 a0003c0003t0001g0203 a0003c0003t0001g0209 a0004c0008t0001g0123 a0004c0008t0001g0124 a0004c0008t0001g0125 a0004c0008t0001g0126 a0005c0004t0001g0008 a0005c0004t0001g0053 a0006c0006t0001g0222 a0006c0006t0001g0226 a0006c0006t0001g0229 a0009c0010t0001g0233 a0009c0041t0001g0101 a0010c0009t0001g0187	20	250	0.0800	18	c.258 others(35): Show c.2585-868_2585-851dupATATATATATATATATAT	FRMPD2	ENSG00000170324.21	transcript	ENST00000374201.8	protein_coding	20/28			chr10	TogoVar
FRMPD2_chr10_48151562_48279696	48183851	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00735.hp2 others(17): Show HG00323.hp1 HG00323.hp2 HG00735.hp2 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01243.hp1 HG02056.hp2 HG02165.hp2 HG02280.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02976.hp1 NA18906.hp2 NA18948.hp1 NA19030.hp1 NA20129.hp2 NA20300.hp2	a0002 a0005 a0006 others(2): Show a0002 a0005 a0006 a0009 a0018	a0002c0002 a0005c0004 a0006c0006 others(5): Show a0002c0002 a0005c0004 a0006c0006 a0006c0025 a0006c0039 a0009c0010 a0009c0041 a0018c0021	a0002c0002t0001 a0005c0004t0001 a0006c0006t0001 others(5): Show a0002c0002t0001 a0005c0004t0001 a0006c0006t0001 a0006c0025t0001 a0006c0039t0001 a0009c0010t0001 a0009c0041t0001 a0018c0021t0001	a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0147 others(17): Show a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0147 a0002c0002t0001g0163 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0215 a0005c0004t0001g0008 a0005c0004t0001g0032 a0005c0004t0001g0044 a0005c0004t0001g0045 a0005c0004t0001g0051 a0005c0004t0001g0052 a0006c0006t0001g0229 a0006c0025t0001g0232 a0006c0039t0001g0073 a0009c0010t0001g0040 a0009c0010t0001g0233 a0009c0041t0001g0101 a0018c0021t0001g0042	20	250	0.0800	18	c.258 others(35): Show c.2584+714_2584+715insTTTTTTTTTTTTTTTTTT	FRMPD2	ENSG00000170324.21	transcript	ENST00000374201.8	protein_coding	20/28			chr10	TogoVar
FRMPD3_chrX_107444652_107610251	107461757	T T	TTATACAT others(11): Show TTATACATATACATATACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03453.hp2 NA18962.hp1 others(1): Show HG03098.hp1 HG03453.hp2 NA18962.hp1 NA18977.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0005 a0002c0006t0002 a0001c0001t0001 a0001c0001t0005 a0002c0006t0002	a0001c0001t0001g0126 a0001c0001t0005g0125 a0002c0006t0002g0172 others(1): Show a0001c0001t0001g0126 a0001c0001t0005g0125 a0002c0006t0002g0172 a0002c0006t0002g0182	4	183	0.0219	18	c.-8+ others(35): Show c.-8+11794_-8+11811dupATATACATATACATATAC	FRMPD3	ENSG00000147234.11	transcript	ENST00000683843.1	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD3_chrX_107444652_107610251	107572908	C C	CTACTACT others(11): Show CTACTACTACTACTAATAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0072 a0001c0005t0002g0072	1	183	0.0055	18	c.129 others(37): Show c.1297-3405_1297-3404insCTACTACTACTAATAATA	FRMPD3	ENSG00000147234.11	transcript	ENST00000683843.1	protein_coding	12/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD3_chrX_107444652_107610251	107572908	C C	CTACTACT others(11): Show CTACTACTACTACTACTAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02976.hp1 HG03540.hp2 HG02965.hp1 HG02976.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0002t0016 a0001c0005t0002 a0001c0002t0002 a0001c0002t0016 a0001c0005t0002	a0001c0002t0002g0077 a0001c0002t0016g0061 a0001c0005t0002g0019 a0001c0002t0002g0077 a0001c0002t0016g0061 a0001c0005t0002g0019	3	183	0.0164	18	c.129 others(37): Show c.1297-3405_1297-3404insCTACTACTACTACTAATA	FRMPD3	ENSG00000147234.11	transcript	ENST00000683843.1	protein_coding	12/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD3_chrX_107444652_107610251	107596999	A A	AATGGATA others(11): Show AATGGATACCCTCTATCTG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	183	0.0055	18	c.144 others(35): Show c.1442-321_1442-320insTGGATACCCTCTATCTGA	FRMPD3	ENSG00000147234.11	transcript	ENST00000683843.1	protein_coding	13/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12160068	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0027 a0002c0004t0001g0027	1	174	0.0058	18	c.41+ others(35): Show c.41+21069_41+21086dupGTGTGTGTGTGTGTGTGT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12280247	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02647.hp1 NA18945.hp1 others(1): Show HG02056.hp1 HG02647.hp1 NA18945.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0131 a0001c0001t0002g0064 a0001c0002t0001g0124 others(1): Show a0001c0001t0001g0131 a0001c0001t0002g0064 a0001c0002t0001g0124 a0001c0002t0001g0133	4	174	0.0230	18	c.41+ others(37): Show c.41+141250_41+141267dupTAATAATAATAATAATAA	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12294485	C C	CACACACA others(11): Show CACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00738.hp1 others(50): Show HG00639.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01257.hp1 HG01258.hp1 HG01884.hp1 HG01934.hp1 HG01952.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02132.hp1 HG02135.hp1 HG02293.hp2 HG02897.hp1 HG03017.hp1 HG03098.hp1 HG03491.hp2 HG04115.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18953.hp1 NA18955.hp1 NA18960.hp1 NA18962.hp2 NA18965.hp1 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA19000.hp1 NA19007.hp1 NA19012.hp1 NA19058.hp1 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19076.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0002 a0001c0006 others(7): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0010 a0003c0009 a0004c0019 a0006c0018 a0007c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0002c0003t0003 a0002c0004t0001 a0002c0010t0005 a0003c0009t0001 a0004c0019t0001 a0006c0018t0001 a0007c0016t0001	a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 others(50): Show a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0002g0043 a0001c0001t0002g0075 a0001c0001t0002g0089 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0110 a0001c0001t0002g0116 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0011g0079 a0001c0002t0001g0070 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0105 a0001c0002t0001g0114 a0001c0002t0001g0118 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0133 a0001c0002t0001g0137 a0001c0002t0001g0146 a0001c0002t0001g0149 a0001c0002t0001g0155 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0002g0115 a0001c0002t0002g0129 a0001c0002t0002g0154 a0001c0002t0002g0158 a0001c0006t0001g0019 a0002c0003t0003g0106 a0002c0004t0001g0009 a0002c0010t0005g0031 a0003c0009t0001g0132 a0004c0019t0001g0130 a0006c0018t0001g0126 a0007c0016t0001g0121	53	174	0.3046	18	c.41+ others(37): Show c.41+155474_41+155475insCACACACACACACACAGA	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12294485	C C	CACACACA others(11): Show CACACACACACACACAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02280.hp1 others(1): Show HG01167.hp1 HG01169.hp1 HG02280.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0006 a0001c0007t0001 a0001c0001t0002 a0001c0001t0006 a0001c0007t0001	a0001c0001t0002g0049 a0001c0001t0006g0014 a0001c0001t0006g0015 others(1): Show a0001c0001t0002g0049 a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0007t0001g0172	4	174	0.0230	18	c.41+ others(37): Show c.41+155474_41+155475insCACACACACACACAGAGA	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12305725	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18983.hp1 HG02280.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0136 a0001c0007t0001g0172 a0001c0001t0001g0136 a0001c0007t0001g0172	2	174	0.0115	18	c.41+ others(37): Show c.41+166718_41+166735dupTTTTTTTTTTTTTTTTTT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12388818	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	174	0.0058	18	c.42- others(37): Show c.42-109846_42-109829dupTATATATATATATATATA	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12388850	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	174	0.0058	18	c.42- others(37): Show c.42-109829_42-109828insTATATATATATATACACA	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12388850	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19030.hp1 HG03130.hp1 NA19030.hp1	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0001 a0002c0005t0001 a0002c0004t0001 a0002c0005t0001	a0002c0004t0001g0046 a0002c0005t0001g0051 a0002c0004t0001g0046 a0002c0005t0001g0051	2	174	0.0115	18	c.42- others(37): Show c.42-109829_42-109828insTATATATATATATATACA	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12435380	T T	TCAGTATA others(11): Show TCAGTATATGCTGTATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0055 a0002c0003t0001g0055	1	174	0.0058	18	c.42- others(35): Show c.42-63291_42-63274dupGCTGTATATACAGTATAT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12479435	C C	CATATATA others(11): Show CATATATACGTATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01256.hp1 HG01257.hp2 others(8): Show HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01884.hp2 HG02280.hp2 HG02293.hp1 HG02559.hp1 HG02647.hp1 HG03579.hp1 NA18906.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0002c0004 a0002c0005 a0002c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0001 a0001c0007t0008 a0002c0004t0001 a0002c0005t0004 a0002c0013t0005	a0001c0001t0001g0045 a0001c0001t0001g0082 a0001c0001t0002g0029 others(8): Show a0001c0001t0001g0045 a0001c0001t0001g0082 a0001c0001t0002g0029 a0001c0001t0002g0064 a0001c0001t0002g0072 a0001c0002t0001g0081 a0001c0006t0001g0016 a0001c0007t0008g0112 a0002c0004t0001g0046 a0002c0005t0004g0001 a0002c0013t0005g0005	11	174	0.0632	18	c.42- others(35): Show c.42-19244_42-19243insTATATACGTATATATATA	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12481942	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0023 a0002c0003t0001g0023	1	174	0.0058	18	c.42- others(35): Show c.42-16726_42-16709dupAAAAAAAAAAAAAAAAAA	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12553434	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0023 a0002c0003t0001g0023	1	174	0.0058	18	c.158 others(37): Show c.158+54654_158+54671dupATATATATATATATATAT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12553466	A A	ATATATAT others(11): Show ATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01952.hp1 others(6): Show HG01081.hp1 HG01099.hp1 HG01952.hp1 HG03209.hp1 NA18953.hp1 NA18971.hp1 NA18977.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0035 a0001c0001t0001g0056 a0001c0001t0002g0127 others(6): Show a0001c0001t0001g0035 a0001c0001t0001g0056 a0001c0001t0002g0127 a0001c0001t0006g0174 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0155 a0001c0002t0001g0160 a0002c0004t0001g0170	9	174	0.0517	18	c.158 others(37): Show c.158+54671_158+54672insATATATATATATATATCT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRS2_chr12_69465388_69584793	69468900	A A	ACCCCCCC others(11): Show ACCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 NA18964.hp1 HG02080.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0053 a0001c0001t0003g0050 a0001c0001t0003g0053	2	342	0.0059	18	c.-18 others(29): Show c.-1891_-1890insCCCCCCCCCCCCCCCCCC	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding		1487		chr12	TogoVar
FRS2_chr12_69465388_69584793	69485082	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA20129.hp2 HG02976.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0001 a0001c0001t0017 a0001c0002t0001	a0001c0001t0017g0302 a0001c0002t0001g0167 a0001c0001t0017g0302 a0001c0002t0001g0167	2	342	0.0059	18	c.-26 others(39): Show c.-261+14589_-261+14606dupACACACACACACACACAC	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRS2_chr12_69465388_69584793	69485097	A A	ACACACAC others(11): Show ACACACACACACACACGCG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp2 HG02559.hp2 others(10): Show HG01109.hp2 HG02055.hp2 HG02559.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03486.hp2 HG03579.hp1 NA18984.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0030	a0001c0001t0002g0301 a0001c0001t0003g0236 a0001c0001t0003g0237 others(10): Show a0001c0001t0002g0301 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0005g0243 a0001c0001t0005g0244 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0005g0249 a0001c0001t0005g0250 a0001c0001t0030g0201	13	342	0.0380	18	c.-26 others(39): Show c.-261+14582_-261+14583insGCGCACACACACACACAC	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRS2_chr12_69465388_69584793	69485099	A A	ACACACAC others(11): Show ACACACACACACGCGCGCG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0013 a0001c0001t0025g0013	1	342	0.0029	18	c.-26 others(39): Show c.-261+14580_-261+14581insGCGCGCGCACACACACAC	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar

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