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
ESYT2_chr7_158725997_158834509	158806124	C C	CGTGGGAG others(41): Show CGTGGGAGGCGCTGGGGCACACCGCGTGGGAGGTGCCGGGGCACACCGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0016 a0001c0008t0016	a0001c0008t0016g0227 a0001c0008t0016g0227	1	368	0.0027	48	c.331 others(65): Show c.331-7053_331-7052insACGGTGTGCCCCGGCACCTCCCACGCGG TGTGCCCCAGCGCCTCCCAC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158806136	C C	CGGGGCAC others(41): Show CGGGGCACACCGCGTGGGAGGTGCCGGGGCACACCGTGTGGGAGGCGCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03486.hp2 NA19030.hp2 others(1): Show HG02886.hp2 HG03486.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0008 a0001c0019 a0001c0008 a0001c0019	a0001c0008t0016 a0001c0008t0034 a0001c0008t0035 others(1): Show a0001c0008t0016 a0001c0008t0034 a0001c0008t0035 a0001c0019t0033	a0001c0008t0016g0230 a0001c0008t0034g0228 a0001c0008t0035g0229 others(1): Show a0001c0008t0016g0230 a0001c0008t0034g0228 a0001c0008t0035g0229 a0001c0019t0033g0226	4	89	0.0449	48	c.331 others(65): Show c.331-7065_331-7064insAGCGCCTCCCACACGGTGTGCCCCGGCA CCTCCCACGCGGTGTGCCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158806136	C C	CGGGGCAC others(41): Show CGGGGCACACCGTGTGGGAGGCGCTGGCGCACAATGCGTAGGAGGCGCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01496.hp1 HG01346.hp1 HG01496.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0242 a0001c0007t0001g0247 a0001c0007t0001g0242 a0001c0007t0001g0247	2	87	0.0230	48	c.331 others(65): Show c.331-7065_331-7064insAGCGCCTCCTACGCATTGTGCGCCAGCG CCTCCCACACGGTGTGCCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ETV6_chr12_11644674_11900377	11668238	T T	TTCTTAAA others(41): Show TTCTTAAAGAGTGATTGAAATGCCAATAAGAATGCAATAACAAGTGCCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01496.hp1 HG01516.hp2 others(14): Show HG00639.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01981.hp1 HG02273.hp2 HG02293.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp2 NA18906.hp1 NA18948.hp2 NA18993.hp1 NA19007.hp2 NA19091.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0033 a0001c0002t0002 a0001c0002t0065	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0002g0013 others(14): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0004g0019 a0001c0001t0008g0257 a0001c0001t0010g0020 a0001c0001t0014g0022 a0001c0001t0014g0023 a0001c0001t0015g0025 a0001c0001t0017g0165 a0001c0001t0033g0014 a0001c0002t0002g0200 a0001c0002t0065g0144	17	259	0.0656	48	c.33+ others(65): Show c.33+18080_33+18127dupCTTAAAGAGTGATTGAAATGCCAATAAG AATGCAATAACAAGTGCCCT	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
ETV6_chr12_11644674_11900377	11668238	T T	TTCTTAAA others(41): Show TTCTTAAAGAGTGATTGAAATGCCAATAAGAATGCAATAACAAGTTCCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0048 a0001c0004t0048	a0001c0004t0048g0052 a0001c0004t0048g0052	1	243	0.0041	48	c.33+ others(65): Show c.33+18122_33+18123insTCCCTCTTAAAGAGTGATTGAAATGCCA ATAAGAATGCAATAACAAGT	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
EVPLL_chr17_18372778_18394647	18373800	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0003	1	24	0.0417	48	c.-42 others(59): Show c.-4220_-4219insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	EVPLL	ENSG00000214860.5	transcript	ENST00000399134.5	protein_coding		3977		chr17	TogoVar
EXD1_chr15_41177728_41235757	41225348	G G	GCCAAGGT others(41): Show GCCAAGGTGGGCGGATCAACTGAAGTCAGGACTTTGAGACCGGCCTGGC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	316	0.0032	48	c.133 others(65): Show c.133+1047_133+1094dupGCCAGGCCGGTCTCAAAGTCCTGACTTC AGTTGATCCGCCCACCTTGG	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding	2/11			chr15	TogoVar
EXOC6_chr10_92843520_93064490	92975802	C C	CCCCCCGC others(41): Show CCCCCCGCCCGACCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGATCAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03209.hp1 HG03453.hp2 others(1): Show HG02258.hp1 HG03209.hp1 HG03453.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0156 a0001c0001t0004g0158 a0001c0001t0004g0159 others(1): Show a0001c0001t0004g0156 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160	4	284	0.0141	48	c.195 others(67): Show c.1953+1574_1953+1575insCGCCCGACCAGCCGCCCCGTCTGGGA GGGAGGTGGGGGGATCAGCCCC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOC6_chr10_92843520_93064490	92975802	C C	CCCCCCGC others(41): Show CCCCCCGCCCGACCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGATCAG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG04115.hp1 HG03710.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0225 a0001c0001t0002g0192 a0001c0001t0002g0225	2	282	0.0071	48	c.195 others(67): Show c.1953+1574_1953+1575insCGCCCGACCAGCTGCCCCGTCCGGGA GGGAGGTGGGGGGATCAGCCCC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXT1_chr8_117789490_118116826	117858844	G G	GGAAGGAA others(41): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	124	0.0081	48	c.963 others(67): Show c.963-21644_963-21643insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCCTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19068.hp2 NA18979.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0216 a0001c0001t0003g0113 a0001c0001t0002g0216 a0001c0001t0003g0113	2	101	0.0198	48	c.-10 others(65): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTATATATATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	98	0.0102	48	c.-68 others(67): Show c.-68-15034_-68-15033insAAAAAATATATATATATATATATATA TATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0324 a0001c0003t0001g0324	1	98	0.0102	48	c.-68 others(67): Show c.-68-15034_-68-15033insAAAAAAAATATATATATATATATATA TATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYS_chr6_63714980_65712226	64632612	G G	GATCAGAA others(41): Show GATCAGAAATTGTCATCTAGGTCATAGGAATTCACATATTTCTATTTAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp2 HG02451.hp1 others(16): Show HG01169.hp1 HG01169.hp2 HG02451.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0008 a0011 a0012 a0013 a0015 a0016 a0017 a0018 a0019 a0020 a0021	a0001c0002 a0001c0019 a0002c0009 others(16): Show a0001c0002 a0001c0019 a0002c0009 a0002c0012 a0003c0008 a0003c0021 a0004c0024 a0005c0011 a0008c0001 a0011c0010 a0012c0016 a0013c0005 a0015c0004 a0016c0022 a0017c0014 a0018c0018 a0019c0023 a0020c0020 a0021c0007	a0001c0002t0002 a0001c0019t0001 a0002c0009t0001 others(16): Show a0001c0002t0002 a0001c0019t0001 a0002c0009t0001 a0002c0012t0002 a0003c0008t0002 a0003c0021t0001 a0004c0024t0001 a0005c0011t0002 a0008c0001t0001 a0011c0010t0001 a0012c0016t0001 a0013c0005t0001 a0015c0004t0002 a0016c0022t0001 a0017c0014t0001 a0018c0018t0001 a0019c0023t0001 a0020c0020t0002 a0021c0007t0001	a0001c0002t0002g0019 a0001c0019t0001g0006 a0002c0009t0001g0012 others(16): Show a0001c0002t0002g0019 a0001c0019t0001g0006 a0002c0009t0001g0012 a0002c0012t0002g0021 a0003c0008t0002g0020 a0003c0021t0001g0008 a0004c0024t0001g0001 a0005c0011t0002g0018 a0008c0001t0001g0013 a0011c0010t0001g0015 a0012c0016t0001g0003 a0013c0005t0001g0014 a0015c0004t0002g0024 a0016c0022t0001g0011 a0017c0014t0001g0005 a0018c0018t0001g0007 a0019c0023t0001g0010 a0020c0020t0002g0022 a0021c0007t0001g0009	19	24	0.7917	48	c.344 others(67): Show c.3444-6368_3444-6367insATAAATAGAAATATGTGAATTCCTAT GACCTAGATGACAATTTCTGAT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
F10_chr13_113117799_113154529	113154293	A A	AGGGCGCG others(41): Show AGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG03041.hp2 HG03098.hp1 others(7): Show HG01496.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 NA18994.hp2 NA19003.hp1 NA19074.hp1 NA19085.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0003c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0291 a0001c0002t0001g0002 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0291 a0001c0002t0001g0002 a0001c0002t0001g0032 a0001c0002t0001g0053 a0001c0002t0001g0272 a0001c0002t0001g0350 a0001c0002t0001g0362 a0001c0007t0001g0164 a0003c0005t0001g0366	10	143	0.0699	48	c.47 others(59): Show c.4776_*4777insGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGG GCGCGGGGGAGGCG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4765		chr13	TogoVar
F7_chr13_113100791_113125685	113105040	A A	AAAAAATA others(41): Show AAAAAATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0069 a0001c0001t0005g0069	1	71	0.0141	48	c.-80 others(57): Show c.-802_-801insAAAAATATATATATATATATATATATATATATATAT ATATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		750		chr13	TogoVar
F8A1_chrX_154881355_154893061	154881524	A A	AGGTTGCT others(41): Show AGGTTGCTTCAACATGTGAAAATCAGTGTATATAATACACCATATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03098.hp1 NA19240.hp2 HG02976.hp2 HG03098.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	3	325	0.0092	48	c.-48 others(59): Show c.-4851_-4850insGGTTGCTTCAACATGTGAAAATCAGTGTATATAA TACACCATATTAAT	F8A1	ENSG00000288722.1	transcript	ENST00000610495.2	protein_coding		4830		chrX	TogoVar
F8_chrX_154830792_155027723	154881524	A A	AGGTTGCT others(41): Show AGGTTGCTTCAACATGTGAAAATCAGTGTATATAATACACCATATTAAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp1 NA19240.hp2 HG02976.hp2 HG03098.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0005 a0002c0010t0005 a0002c0002t0005 a0002c0010t0005	a0002c0002t0005g0215 a0002c0002t0005g0216 a0002c0010t0005g0099 a0002c0002t0005g0215 a0002c0002t0005g0216 a0002c0010t0005g0099	3	231	0.0130	48	c.642 others(69): Show c.6429+14552_6429+14553insATTAATATGGTGTATTATATACAC TGATTTTCACATGTTGAAGCAACC	F8	ENSG00000185010.15	transcript	ENST00000360256.9	protein_coding	22/25			chrX	TogoVar
FAAH2_chrX_57281706_57494193	57352099	T T	TATATGTG others(41): Show TATATGTGTATATATATGCACATATATATATATGTGTATATATATGCAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG02965.hp1 others(2): Show HG01243.hp1 HG02630.hp1 HG02965.hp1 HG03139.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0267 a0001c0003t0001g0268 a0001c0003t0001g0269 others(2): Show a0001c0003t0001g0267 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0272 a0001c0003t0001g0273	5	181	0.0276	48	c.742 others(67): Show c.742+10713_742+10714insGTGTATATATATGCACATATATATAT ATGTGTATATATATGCACATAT	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAF1_chr1_50432028_50965267	50885312	T T	TCTCTCTC others(41): Show TCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	140	0.0071	48	c.46- others(65): Show c.46-27316_46-27315insTGTGTGTGTGTGTGTGTGTGTGTGTGAG AGAGAGAGAGAGAGAGAGAG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	1/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50885312	T T	TCTCTCTC others(41): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	140	0.0071	48	c.46- others(65): Show c.46-27316_46-27315insTGTGTGTGTGTGTGTGTGTGTGAGAGAG AGAGAGAGAGAGAGAGAGAG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	1/18			chr1	TogoVar
FAM110B_chr8_57989523_58153784	58006901	G G	GTATATAT others(41): Show GTATATATATATATACCAATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0229 a0001c0001t0003g0229	1	194	0.0052	48	c.-51 others(69): Show c.-512+12109_-512+12110insCCAATATATATATATATATATATA TATATATATATATATATATATATA	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM120B_chr6_170301758_170412067	170361206	A A	ATATATAC others(41): Show ATATATACGTGTATATATATATATATATACGTATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19068.hp1 NA19079.hp2 others(1): Show NA18952.hp2 NA19068.hp1 NA19079.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050	4	282	0.0142	48	c.228 others(67): Show c.2283+2894_2283+2895insCGTGTATATATATATATATATACGTA TATATATATATATACGTATATA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM135A_chr6_70408508_70566174	70411363	C C	CTATATAT others(41): Show CTATATATATATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0211 a0001c0009t0001g0211	1	182	0.0055	48	c.-25 others(59): Show c.-2559_-2558insTATATATATATATATATATATATATATATATATA TATATATATATATA	FAM135A	ENSG00000082269.17	transcript	ENST00000418814.7	protein_coding		2144		chr6	TogoVar
FAM13C_chr10_59241133_59367549	59286516	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA19077.hp2 NA18988.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0063 a0001c0001t0002g0065	2	6	0.3333	48	c.508 others(65): Show c.508-3070_508-3069insATATATATATATATATATATATATATAT ATATATATATATATATATAT	FAM13C	ENSG00000148541.13	transcript	ENST00000618804.5	protein_coding	5/13			chr10	TogoVar
FAM161A_chr2_61819848_61859060	61823362	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0225 a0002c0002t0002g0225	1	6	0.1667	48	c.30 others(59): Show c.3092_*3093insATATATATATATATATATATATATATATATATAT ATATATATATATAT	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding		1485		chr2	TogoVar
FAM169A_chr5_74772574_74871387	74784510	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0249 a0001c0003t0005g0249	1	147	0.0068	48	c.126 others(67): Show c.1261-1377_1261-1376insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	FAM169A	ENSG00000198780.13	transcript	ENST00000687041.1	protein_coding	11/12			chr5	TogoVar
FAM184A_chr6_118954763_119083664	118969993	A A	ATAAAATA others(41): Show ATAAAATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02155.hp1 HG02922.hp2 others(2): Show HG01978.hp1 HG02155.hp1 HG02922.hp2 NA18989.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0108 a0001c0001t0001g0231 a0001c0001t0001g0232 others(2): Show a0001c0001t0001g0108 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0251 a0001c0001t0003g0015	5	186	0.0269	48	c.291 others(67): Show c.2916-3042_2916-3041insATATATATATATATATATATATATAT ATATATATATATATATATTTTA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	50	0.0200	48	c.291 others(67): Show c.2916-3057_2916-3056insAAAAAATATATATATATATATATATA TATATATATATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0283 a0001c0001t0008g0283	1	50	0.0200	48	c.291 others(67): Show c.2916-3057_2916-3056insAAAAAAAATATATATATATATATATA TATATATATATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM186A_chr12_50322309_50401609	50346215	G G	GAGAGAGA others(41): Show GAGAGAGAGAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	86	0.0116	48	c.650 others(67): Show c.6503+4113_6503+4114insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCCTTCTCTCTCTCT	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7			chr12	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0117 a0001c0002t0013g0117	1	81	0.0123	48	c.502 others(65): Show c.502-7999_502-7998insATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0136 a0005c0005t0004g0136	1	81	0.0123	48	c.502 others(65): Show c.502-7999_502-7998insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0238 a0003c0003t0001g0238	1	81	0.0123	48	c.502 others(65): Show c.502-7999_502-7998insATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM227A_chr22_38573118_38661392	38613312	C C	CATATAAT others(41): Show CATATAATATATATCATATATAATATATATCATATATAATATATATCAT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0179 a0002c0002t0004g0179	1	173	0.0058	48	c.103 others(67): Show c.1039-5837_1039-5836insATGATATATATTATATATGATATATA TTATATATGATATATATTATAT	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	11/16			chr22	TogoVar
FAM53A_chr4_1634887_1689313	1649170	A A	AGGGAAGG others(41): Show AGGGAAGGGGAAAGGGAAGGGGAAAGGGAAGGGGAAAGGGAAAGGGAAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02976.hp2 HG02258.hp2 HG02976.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0011 a0001c0001 a0010c0011	a0001c0001t0030 a0010c0011t0036 a0001c0001t0030 a0010c0011t0036	a0001c0001t0030g0056 a0010c0011t0036g0122 a0001c0001t0030g0056 a0010c0011t0036g0122	2	346	0.0058	48	c.882 others(65): Show c.882+5807_882+5808insCTTCCCTTTCCCTTTCCCCTTCCCTTTC CCCTTCCCTTTCCCCTTCCC	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	4/4			chr4	TogoVar
FAM81B_chr5_95386366_95455441	95439236	G G	GTATATAT others(41): Show GTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	54	0.0185	48	c.893 others(65): Show c.893+2359_893+2360insATATATATATATATATATATATATATAT ATATATATATATATATATAT	FAM81B	ENSG00000153347.10	transcript	ENST00000283357.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
FANK1_chr10_125891564_126014592	125914280	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19010.hp2 NA18906.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0073 a0001c0001t0001g0078	2	210	0.0095	48	c.13+ others(65): Show c.13+17637_13+17638insATATATATATATATATATATATATATAT ATATATATATATATATATAT	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FARP1_chr13_98138094_98460176	98401415	A A	AACACACA others(41): Show AACACACACACACACACACACACAGACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA19060.hp2 HG02602.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0084 a0001c0001t0005 a0001c0001t0084	a0001c0001t0005g0036 a0001c0001t0084g0023 a0001c0001t0005g0036 a0001c0001t0084g0023	2	6	0.3333	48	c.141 others(67): Show c.1414+5962_1414+5963insGACACACACACACACACACACACACA CACACACACACACACACACACA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARS2_chr6_5256513_5776583	5315717	T T	TCTTTCTT others(41): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA20300.hp2 HG00621.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0124 a0002c0002t0001g0013 a0001c0001t0002g0124 a0002c0002t0001g0013	2	139	0.0144	48	c.-21 others(67): Show c.-21-52813_-21-52812insCTTTCTTTCTTTCTTTCTTTCTTTCT TCCTTTCTTTCTTTCTTTCTTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5539384	G G	GTGTGTAT others(41): Show GTGTGTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	59	0.0169	48	c.905 others(65): Show c.905-5795_905-5794insGTGTATATATATATATATATATATATAT ATATATATATATATATATAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FASN_chr17_82073338_82103236	82078261	C C	CGGCCCCG others(41): Show CGGCCCCGTGACTGGGGTGGGGTGGAGCTGGGAGAGCTTGCAGCTGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	418	0.0024	48	c.88 others(57): Show c.881_*882insTGGCAGCTGCAAGCTCTCCCAGCTCCACCCCACCCC AGTCACGGGGCC	FASN	ENSG00000169710.9	transcript	ENST00000306749.4	protein_coding		76		chr17	TogoVar
FASTKD1_chr2_169523508_169578865	169562132	T T	TTTATTAA others(41): Show TTTATTAATTTATTGTAAATTAATTATTTATTAATTTATTGTAAATTAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0308 a0001c0006t0001g0308	1	377	0.0027	48	c.572 others(65): Show c.572+1092_572+1093insTTAATTTACAATAAATTAATAAATAATT AATTTACAATAAATTAATAA	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	4/14			chr2	TogoVar
FAT2_chr5_151499092_151596331	151534970	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA19007.hp2 NA19057.hp1 NA18968.hp1 NA19007.hp2 NA19057.hp1	a0002 a0068 a0073 a0002 a0068 a0073	a0002c0001 a0068c0113 a0073c0116 a0002c0001 a0068c0113 a0073c0116	a0002c0001t0001 a0068c0113t0001 a0073c0116t0001 a0002c0001t0001 a0068c0113t0001 a0073c0116t0001	a0002c0001t0001g0145 a0068c0113t0001g0070 a0073c0116t0001g0093 a0002c0001t0001g0145 a0068c0113t0001g0070 a0073c0116t0001g0093	3	43	0.0698	48	c.919 others(65): Show c.9194-329_9194-328insATATATATATATATATATATATATATAT ATATATATATATATATATAT	FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding	12/23			chr5	TogoVar
FAT3_chr11_92219818_92901473	92412736	T T	TACACATA others(41): Show TACACATATATATATATATATATACACATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0066 a0001c0005t0066	a0001c0005t0066g0004 a0001c0005t0066g0004	1	82	0.0122	48	c.329 others(69): Show c.3292+57333_3292+57334insCACATATATATATATATATATACA CATATATATATATATACACACACA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92753798	G G	GTATATAT others(41): Show GTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0043 a0043	a0043c0057 a0043c0057	a0043c0057t0031 a0043c0057t0031	a0043c0057t0031g0096 a0043c0057t0031g0096	1	59	0.0169	48	c.367 others(67): Show c.3670-8047_3670-8046insATATATATATATATATATATATATAT ATATATATATATATATATATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92753798	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0010 a0010	a0010c0072 a0010c0072	a0010c0072t0001 a0010c0072t0001	a0010c0072t0001g0078 a0010c0072t0001g0078	1	59	0.0169	48	c.367 others(67): Show c.3670-8057_3670-8056insGTGTGTGTGTATATATATATATATAT ATATATATATATATATATATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92753798	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTATGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0037 a0037	a0037c0071 a0037c0071	a0037c0071t0053 a0037c0071t0053	a0037c0071t0053g0064 a0037c0071t0053g0064	1	59	0.0169	48	c.367 others(67): Show c.3670-8057_3670-8056insGTGTGTGTGTATGTATATATATATAT ATATATATATATATATATATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92753798	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03471.hp1 HG02965.hp1 HG03471.hp1	a0009 a0030 a0009 a0030	a0009c0044 a0030c0066 a0009c0044 a0030c0066	a0009c0044t0008 a0030c0066t0026 a0009c0044t0008 a0030c0066t0026	a0009c0044t0008g0100 a0030c0066t0026g0058 a0009c0044t0008g0100 a0030c0066t0026g0058	2	60	0.0333	48	c.367 others(67): Show c.3670-8057_3670-8056insGTGTGTGTGTGTGTATATATATATAT ATATATATATATATATATATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FBLN1_chr22_45497883_45606135	45555272	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATAAAATGGAATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0205 a0001c0001t0008g0205	1	293	0.0034	48	c.169 others(67): Show c.1697+4676_1697+4677insTATATATATATAAAATGGAATATATA TATATATATATATATATATATA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar

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