Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FBXL4_chr6_98863535_98952946	98935795	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0317 a0001c0001t0015g0317	1	100	0.0100	26	c.-30 others(43): Show c.-308-917_-308-916insTTTTTTTTTTTTTTTTTTTTTTTTTT	FBXL4	ENSG00000112234.9	transcript	ENST00000369244.7	protein_coding	1/9			chr6	TogoVar
FBXL7_chr5_15495180_15944793	15777720	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	30	0.0333	26	c.128 others(47): Show c.128-150169_128-150144dupAAAAAAAAAAAAAAAAAAAAAAAA AA	FBXL7	ENSG00000183580.10	transcript	ENST00000504595.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
FBXO11_chr2_47801920_47911498	47900557	C C	CGTATATA others(19): Show CGTATATATACACACGTATATACGTGT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02615.hp2 HG02723.hp1 others(4): Show HG01346.hp1 HG02615.hp2 HG02723.hp1 HG03139.hp2 HG03490.hp1 HG03492.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 others(4): Show a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224	7	315	0.0222	26	c.232 others(43): Show c.232+4931_232+4932insACACGTATATACGTGTGTATATATAC	FBXO11	ENSG00000138081.22	transcript	ENST00000403359.8	protein_coding	1/22			chr2	TogoVar
FBXO17_chr19_38936401_38980742	38980437	G G	GCCCTGGC others(19): Show GCCCTGGCCTCCCAAAGTGCTGGGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	395	0.0025	26	c.-48 others(37): Show c.-4870_-4869insAATCCCAGCACTTTGGGAGGCCAGGG	FBXO17	ENSG00000269190.6	transcript	ENST00000292852.9	protein_coding		4696		chr19	TogoVar
FBXO31_chr16_87321987_87388776	87362072	A A	ATGAGAAG others(19): Show ATGAGAAGAGTGAGTCACTTGAAGATC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02486.hp1 HG02896.hp1 others(2): Show HG01167.hp1 HG02486.hp1 HG02896.hp1 HG02897.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0040 a0001c0001t0003 a0001c0001t0011 a0001c0001t0040	a0001c0001t0003g0346 a0001c0001t0011g0343 a0001c0001t0011g0344 others(2): Show a0001c0001t0003g0346 a0001c0001t0011g0343 a0001c0001t0011g0344 a0001c0001t0011g0345 a0001c0001t0040g0347	5	374	0.0134	26	c.341 others(43): Show c.341-1732_341-1707dupGATCTTCAAGTGACTCACTCTTCTCA	FBXO31	ENSG00000103264.18	transcript	ENST00000311635.12	protein_coding	1/8			chr16	TogoVar
FBXO31_chr16_87321987_87388776	87365010	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01071.hp1 others(8): Show HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG02015.hp1 NA18747.hp2 NA18945.hp2 NA18977.hp2 NA18984.hp1 NA19065.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0114 a0001c0001t0001g0168 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0114 a0001c0001t0001g0168 a0001c0001t0001g0183 a0001c0001t0002g0001 a0001c0001t0002g0109 a0001c0001t0002g0164 a0001c0001t0002g0206 a0001c0001t0002g0266	11	25	0.4400	26	c.341 others(43): Show c.341-4670_341-4645dupATATATATATATATATATATATATAT	FBXO31	ENSG00000103264.18	transcript	ENST00000311635.12	protein_coding	1/8			chr16	TogoVar
FBXO34_chr14_55266421_55358611	55296382	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0082 a0002c0002t0002g0082	1	220	0.0045	26	c.-11 others(45): Show c.-11+24853_-11+24854insTTTTTTTTTTTTTTTTTTTTTTTTTT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55323212	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	201	0.0050	26	c.-10 others(45): Show c.-10-27168_-10-27167insTATATATATATATATATATATATATA	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55323216	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0004 a0006c0007t0004	a0006c0007t0004g0175 a0006c0007t0004g0175	1	148	0.0068	26	c.-10 others(45): Show c.-10-27164_-10-27163insTATATATATATATATATATATATATA	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55323225	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	238	0.0042	26	c.-10 others(45): Show c.-10-27155_-10-27154insATATATATATATATATATATATATTT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55323225	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	238	0.0042	26	c.-10 others(45): Show c.-10-27155_-10-27154insATATATATATATATATATATATTTTT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55338048	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01358.hp1 HG03831.hp1 HG00735.hp2 HG01358.hp1 HG03831.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0004c0004t0004 a0001c0001t0001 a0001c0001t0004 a0004c0004t0004	a0001c0001t0001g0202 a0001c0001t0004g0172 a0004c0004t0004g0313 a0001c0001t0001g0202 a0001c0001t0004g0172 a0004c0004t0004g0313	3	136	0.0221	26	c.-10 others(45): Show c.-10-12314_-10-12313insTTTTTTTTTTTTTTTTTTTTTTTTTT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO36_chr2_229917503_230018119	229954234	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA20805.hp2 HG03540.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0279 a0002c0002t0001g0286 a0002c0002t0001g0279 a0002c0002t0001g0286	2	14	0.1429	26	c.97- others(43): Show c.97-22006_97-21981dupTTTTTTTTTTTTTTTTTTTTTTTTTT	FBXO36	ENSG00000153832.12	transcript	ENST00000283946.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBXO39_chr17_6771215_6792646	6784953	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG03225.hp2 others(3): Show HG01243.hp2 HG01891.hp1 HG03225.hp2 HG03471.hp1 HG03579.hp1 NA18906.hp2	a0001 a0009 a0001 a0009	a0001c0004 a0009c0015 a0001c0004 a0009c0015	a0001c0004t0001 a0009c0015t0001 a0001c0004t0001 a0009c0015t0001	a0001c0004t0001g0025 a0001c0004t0001g0030 a0009c0015t0001g0096 a0001c0004t0001g0025 a0001c0004t0001g0030 a0009c0015t0001g0096	6	404	0.0149	26	c.102 others(45): Show c.1024-1826_1024-1825insGTGTGTGTGTGTATATATATATATAT	FBXO39	ENSG00000177294.7	transcript	ENST00000321535.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
FBXO41_chr2_73249690_73289478	73252324	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0158 a0002c0003t0004g0158	1	213	0.0047	26	c.66 others(37): Show c.6632_*6657dupATATATATATATATATATATATATAT	FBXO41	ENSG00000163013.12	transcript	ENST00000520530.3	protein_coding		2365		chr2	TogoVar
FBXO42_chr1_16241840_16357480	16326014	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18945.hp1 HG00639.hp2 NA18945.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0009 a0003c0004t0004g0010 a0003c0004t0004g0009 a0003c0004t0004g0010	2	77	0.0260	26	c.-17 others(45): Show c.-17-10605_-17-10580dupCACACACACACACACACACACACACA	FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9			chr1	TogoVar
FBXO42_chr1_16241840_16357480	16326038	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18970.hp2 NA18949.hp1 NA18970.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0050 a0002c0003t0003g0051 a0002c0003t0003g0050 a0002c0003t0003g0051	2	258	0.0078	26	c.-17 others(45): Show c.-17-10604_-17-10603insGACACACACACACACACACACACACA	FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9			chr1	TogoVar
FBXO42_chr1_16241840_16357480	16350757	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03225.hp2 HG00609.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0001c0001t0002 a0002c0003t0003	a0001c0001t0002g0131 a0002c0003t0003g0031 a0001c0001t0002g0131 a0002c0003t0003g0031	2	27	0.0741	26	c.-18 others(43): Show c.-18+1497_-18+1498insCTTTCTTTCTTTCTTTCTTTCTTTCT	FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9			chr1	TogoVar
FBXO47_chr17_38931432_38972403	38944848	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01891.hp1 HG01943.hp1 others(16): Show HG01261.hp1 HG01891.hp1 HG01943.hp1 HG01981.hp2 HG02015.hp1 HG02083.hp1 HG03491.hp1 HG03492.hp1 HG06807.hp1 NA18906.hp2 NA18946.hp1 NA18968.hp2 NA18970.hp1 NA18980.hp2 NA18988.hp1 NA19058.hp2 NA19064.hp2 NA19085.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0232 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0285 a0001c0001t0007g0012	19	190	0.1000	26	c.793 others(41): Show c.793+111_793+112insCACACACACACACACACACACACACA	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	7/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946049	A A	AATATATA others(19): Show AATATATAAATACATAAATATATATTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01256.hp1 HG01346.hp1 others(28): Show HG01192.hp2 HG01256.hp1 HG01346.hp1 HG01358.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 NA18522.hp2 NA18951.hp1 NA19030.hp1 NA19043.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0006c0006t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 others(28): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0002g0154 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0170 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0214 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0006c0006t0001g0041	31	326	0.0951	26	c.617 others(41): Show c.617-939_617-914dupAAATATATATTTATGTATTTATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38947063	T T	TATATGTA others(19): Show TATATGTAAATATATAAACAGATATAA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19074.hp1 NA18969.hp2 NA19074.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0196 a0003c0003t0003g0226 a0003c0003t0003g0196 a0003c0003t0003g0226	2	319	0.0063	26	c.617 others(43): Show c.617-1928_617-1927insTTATATCTGTTTATATATTTACATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO5_chr6_152965535_152988041	152977676	T T	TAAAGAAT others(19): Show TAAAGAATTAGGTTTGATTTATATATA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	436	0.0023	26	c.104 others(43): Show c.104-2056_104-2055insTATATATAAATCAAACCTAATTCTTT	FBXO5	ENSG00000112029.10	transcript	ENST00000229758.8	protein_coding	1/4			chr6	TogoVar
FBXW11_chr5_171856549_172011638	171915613	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	32	0.0313	26	c.148 others(43): Show c.148-1234_148-1209dupCACACACACACACACACACACACACA	FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13			chr5	TogoVar
FBXW11_chr5_171856549_172011638	171952447	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	34	0.0294	26	c.147 others(43): Show c.147+5149_147+5150insAAAATATATATATATATATATATATA	FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13			chr5	TogoVar
FBXW11_chr5_171856549_172011638	171952447	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01106.hp1 HG02922.hp1 HG00733.hp2 HG01106.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0121	3	36	0.0833	26	c.147 others(43): Show c.147+5149_147+5150insAAAAAATATATATATATATATATATA	FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13			chr5	TogoVar
FBXW7_chr4_152315544_152541092	152316438	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0240 a0001c0001t0011g0240	1	152	0.0066	26	c.64 others(37): Show c.6442_*6443insTTTTTTTTTTTTTTTTTTTTTTTTTT	FBXW7	ENSG00000109670.17	transcript	ENST00000281708.10	protein_coding		4105		chr4	TogoVar
FCHSD2_chr11_72831745_73147318	73096987	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02148.hp1 NA18944.hp1 HG01257.hp2 HG02148.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0016g0245 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0016g0245	3	10	0.3000	26	c.120 others(45): Show c.120-13273_120-13248dupAAAAAAAAAAAAAAAAAAAAAAAAAA	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding	2/19			chr11	TogoVar
FCHSD2_chr11_72831745_73147318	73142811	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA20805.hp1 NA18944.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0181 a0001c0001t0001g0039 a0001c0001t0001g0181	2	28	0.0714	26	c.-93 others(35): Show c.-935_-934insACACACACACACACACACACACACAC	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding		494		chr11	TogoVar
FCMR_chr1_206898317_206926941	206924749	T T	TTGTGTGT others(19): Show TTGTGTGTGTGCTCTGTGGAGTGTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0077	1	378	0.0026	26	c.-28 others(37): Show c.-2896_-2895insCTCACACTCCACAGAGCACACACACA	FCMR	ENSG00000162894.12	transcript	ENST00000367091.8	protein_coding		2809		chr1	TogoVar
FCN1_chr9_134898232_134922912	134905966	T T	TCCCTCTC others(19): Show TCCCTCTCCCTCTCCTTCTCCTTCTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG01243.hp2 others(17): Show HG01081.hp1 HG01109.hp2 HG01243.hp2 HG01884.hp2 HG02109.hp2 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02717.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG06807.hp2 NA19030.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0017 a0001c0001t0028 a0001c0001t0061 others(14): Show a0001c0001t0017 a0001c0001t0028 a0001c0001t0061 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0281 a0001c0003t0271	a0001c0001t0017g0044 a0001c0001t0017g0245 a0001c0001t0028g0244 others(16): Show a0001c0001t0017g0044 a0001c0001t0017g0245 a0001c0001t0028g0244 a0001c0001t0028g0255 a0001c0001t0061g0262 a0001c0001t0066g0257 a0001c0001t0067g0248 a0001c0001t0068g0249 a0001c0001t0069g0250 a0001c0001t0070g0251 a0001c0001t0071g0252 a0001c0001t0072g0146 a0001c0001t0073g0147 a0001c0001t0074g0253 a0001c0001t0075g0254 a0001c0001t0076g0247 a0001c0001t0077g0256 a0001c0001t0281g0246 a0001c0003t0271g0287	20	422	0.0474	26	c.38 others(37): Show c.3831_*3832insGGAGAAGGAGAAGGAGAGGGAGAGGG	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9	3831		chr9	TogoVar
FCRL2_chr1_157740733_157782132	157751903	C C	CGAGCAAA others(19): Show CGAGCAAACCAGCAAACCAAAAGCAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG03471.hp2 HG02451.hp2 HG02647.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133	3	378	0.0079	26	c.128 others(45): Show c.1280-2227_1280-2226insTTTGCTTTTGGTTTGCTGGTTTGCTC	FCRL2	ENSG00000132704.16	transcript	ENST00000361516.8	protein_coding	7/11			chr1	TogoVar
FCRL4_chr1_157568747_157603085	157585344	C C	CTTTCTTT others(19): Show CTTTCTTTCCTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18963.hp1 HG02486.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0021 a0001c0001t0009g0076 a0001c0001t0005g0021 a0001c0001t0009g0076	2	281	0.0071	26	c.113 others(43): Show c.1135+823_1135+824insAAGAAAGAAAGAAAGAAGGAAAGAAA	FCRL4	ENSG00000163518.11	transcript	ENST00000271532.2	protein_coding	6/11			chr1	TogoVar
FCRL6_chr1_159797360_159821257	159816136	T T	TGGTGATG others(19): Show TGGTGATGCTGGTACAAACAAGCTACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	1	450	0.0022	26	c.47 others(35): Show c.477_*502dupGTGATGCTGGTACAAACAAGCTACAG	FCRL6	ENSG00000181036.14	transcript	ENST00000368106.4	protein_coding	10/10	503	INFO_REALIGN_3_PRIME	chr1	TogoVar
FEM1C_chr5_115515908_115549775	115547937	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	244	0.0041	26	c.-36 others(37): Show c.-3606_-3605insTATATATACACACACACACACACACA	FEM1C	ENSG00000145780.8	transcript	ENST00000274457.5	protein_coding		3163		chr5	TogoVar
FER1L5_chr2_96637764_96709883	96656366	G G	GTGGCTCA others(19): Show GTGGCTCACGCCTGTAATCCCAGCACT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0142 a0002c0001t0001g0142	1	224	0.0045	26	c.747 others(43): Show c.747+1872_747+1897dupGGCTCACGCCTGTAATCCCAGCACTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FER1L6_chr8_123846987_124125061	123856316	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01071.hp2 others(2): Show HG00438.hp2 HG00621.hp1 HG01071.hp2 HG01433.hp1 HG02523.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0007 others(2): Show a0001c0001 a0001c0006 a0002c0007 a0002c0027 a0003c0016	a0001c0001t0001 a0001c0006t0002 a0002c0007t0001 others(2): Show a0001c0001t0001 a0001c0006t0002 a0002c0007t0001 a0002c0027t0006 a0003c0016t0002	a0001c0001t0001g0128 a0001c0006t0002g0190 a0002c0007t0001g0178 others(2): Show a0001c0001t0001g0128 a0001c0006t0002g0190 a0002c0007t0001g0178 a0002c0027t0006g0192 a0003c0016t0002g0182	5	66	0.0758	26	c.-8+ others(41): Show c.-8+4132_-8+4133insGTGTGTATATATATATATATATATAT	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FER1L6_chr8_123846987_124125061	123974659	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0133 a0001c0009t0002g0133	1	75	0.0133	26	c.527 others(41): Show c.527-468_527-467insAAAAAAAAAAAAAAAAAAAAAAAAAA	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	7/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FERMT2_chr14_52852273_52956050	52902868	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18981.hp1 NA18980.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0223 a0001c0001t0001g0226	2	54	0.0370	26	c.392 others(43): Show c.392-9442_392-9441insTTTTTTTTTTTTTTTTTTTTTTTTTT	FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	3/14			chr14	TogoVar
FERMT2_chr14_52852273_52956050	52943208	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03041.hp1 NA20300.hp1 HG02615.hp1 HG03041.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0186	3	248	0.0121	26	c.157 others(43): Show c.157+7203_157+7204insTTTTTTTTTTTTTTTTTTTTTTTTTT	FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	2/14			chr14	TogoVar
FER_chr5_108742897_109201841	108879695	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0122 a0001c0002t0002g0122	1	135	0.0074	26	c.924 others(43): Show c.924-3700_924-3699insTATATATATATATATATATATATATA	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108927252	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03540.hp2 HG03130.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0029 a0001c0006t0030 a0001c0002t0029 a0001c0006t0030	a0001c0002t0029g0137 a0001c0006t0030g0009 a0001c0002t0029g0137 a0001c0006t0030g0009	2	33	0.0606	26	c.123 others(47): Show c.1237-18859_1237-18858insTTTTTTTTTTTTTTTTTTTTTTTT TT	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	109146253	A A	AATATATA others(19): Show AATATATATATATATTATCTATCTAAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0010 a0001c0006t0004g0010	1	45	0.0222	26	c.204 others(47): Show c.2049-34480_2049-34479insTATCTATCTAATATATATATATAT AT	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FEZ1_chr11_125437881_125501265	125449441	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01978.hp2 HG02273.hp2 others(2): Show HG00738.hp2 HG01978.hp2 HG02273.hp2 NA18957.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0050 others(2): Show a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0050 a0001c0001t0003g0076 a0001c0001t0003g0077	5	285	0.0175	26	c.109 others(43): Show c.1097-875_1097-874insCTTTTTTTTTTTTTTTTTTTTTTTTT	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	8/9			chr11	TogoVar
FEZ1_chr11_125437881_125501265	125497846	C C	CGTGGTGG others(19): Show CGTGGTGGCGGGCGCCTGTAGTCCCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0113 a0002c0002t0001g0113	1	354	0.0028	26	c.-17 others(37): Show c.-1797_-1772dupTTGGGACTACAGGCGCCCGCCACCAC	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding		1582		chr11	TogoVar
FEZ1_chr11_125437881_125501265	125498211	C C	CCATATAT others(19): Show CCATATATGTCTCATATAGATGTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00735.hp1 HG01069.hp2 others(24): Show HG00609.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01109.hp2 HG01256.hp2 HG02015.hp2 HG02027.hp2 HG02145.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03195.hp1 HG03540.hp2 NA18522.hp2 NA18943.hp2 NA18957.hp1 NA18970.hp2 NA18986.hp1 NA19010.hp2 NA19057.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0001c0001t0005 a0002c0002t0001 others(3): Show a0001c0001t0003 a0001c0001t0005 a0002c0002t0001 a0002c0002t0009 a0002c0002t0015 a0003c0003t0003	a0001c0001t0003g0037 a0001c0001t0003g0042 a0001c0001t0003g0044 others(24): Show a0001c0001t0003g0037 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0053 a0001c0001t0003g0056 a0001c0001t0003g0068 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0106 a0001c0001t0005g0301 a0001c0001t0005g0310 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 a0002c0002t0001g0111 a0002c0002t0001g0123 a0002c0002t0001g0125 a0002c0002t0001g0131 a0002c0002t0001g0135 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0009g0145 a0002c0002t0015g0110 a0003c0003t0003g0073 a0003c0003t0003g0075	27	348	0.0776	26	c.-21 others(37): Show c.-2162_-2137dupTGGGACATCTATATGAGACATATATG	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding		1947		chr11	TogoVar
FEZ1_chr11_125437881_125501265	125498267	A A	ATATGTCT others(19): Show ATATGTCTCATATAGATGTCCCACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	159	0.0063	26	c.-22 others(37): Show c.-2218_-2193dupCATGTGGGACATCTATATGAGACATA	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding		2003		chr11	TogoVar
FEZ1_chr11_125437881_125501265	125498446	C C	CATGTATG others(19): Show CATGTATGTCTCATATAGATGTCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01978.hp2 HG02080.hp1 others(8): Show HG00738.hp2 HG01978.hp2 HG02080.hp1 HG02083.hp2 HG02273.hp2 HG04228.hp2 NA18946.hp2 NA18964.hp2 NA18981.hp1 NA19006.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0040 a0001c0001t0003g0048 others(8): Show a0001c0001t0003g0035 a0001c0001t0003g0040 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0057 a0001c0001t0003g0069 a0001c0001t0003g0072 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0094	11	294	0.0374	26	c.-23 others(37): Show c.-2397_-2372dupATGGGACATCTATATGAGACATACAT	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding		2182		chr11	TogoVar
FEZ1_chr11_125437881_125501265	125498449	G G	GTATGTCT others(19): Show GTATGTCTCATATAGATGTCCCACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02922.hp1 HG02723.hp2 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0144 a0002c0002t0001g0146	2	319	0.0063	26	c.-23 others(37): Show c.-2375_-2374insTATGTGGGACATCTATATGAGACATA	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding		2185		chr11	TogoVar
FEZ1_chr11_125437881_125501265	125498449	G G	GTATGTCT others(19): Show GTATGTCTCATATAGATGTCCCATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00621.hp2 others(25): Show HG00408.hp2 HG00423.hp2 HG00621.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02886.hp1 NA18612.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18952.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA19004.hp1 NA19009.hp2 NA19064.hp2 NA19091.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0015 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0015 a0002c0002t0022 a0002c0002t0026	a0001c0001t0001g0001 a0001c0001t0001g0129 a0001c0001t0001g0130 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0001g0266 a0002c0002t0015g0110 a0002c0002t0022g0132 a0002c0002t0026g0117	28	345	0.0812	26	c.-24 others(37): Show c.-2400_-2375dupTATATGGGACATCTATATGAGACATA	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding		2185		chr11	TogoVar
FEZ2_chr2_36547258_36603168	36598175	G G	GCCGGCCC others(19): Show GCCGGCCCGGGCCCGGCCCGGCCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0090 a0001c0002t0003g0090	1	381	0.0026	26	c.-34 others(33): Show c.-34_-33insGCTGGGCCGGGCCGGGCCCGGGCCGG	FEZ2	ENSG00000171055.15	transcript	ENST00000405912.8	protein_coding		8		chr2	TogoVar

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