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
EYA3_chr1_27965344_28093610	28073128	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18986.hp2 NA18975.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0341 a0001c0001t0004g0366 a0001c0001t0004g0341 a0001c0001t0004g0366	2	351	0.0057	29	c.-68 others(48): Show c.-68-15035_-68-15034insTATATATATATATATATATATATATA TAT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA4_chr6_133236357_133537128	133408934	C C	CTGAAAAG others(22): Show CTGAAAAGGAATTAGTTTTACTGAAAAGGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0244 a0002c0002t0006g0244	1	262	0.0038	29	c.83+ others(46): Show c.83+26493_83+26494insTGAAAAGGAATTAGTTTTACTGAAAAGG A	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19			chr6	TogoVar
EYS_chr6_63714980_65712226	64511242	T T	TATATATA others(22): Show TATATATATGATATATATATCATATGTATC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp2 HG02970.hp1 others(1): Show HG02886.hp1 HG02886.hp2 HG02970.hp1 HG03195.hp1	a0002 a0010 a0014 others(1): Show a0002 a0010 a0014 a0018	a0002c0009 a0010c0015 a0014c0003 others(1): Show a0002c0009 a0010c0015 a0014c0003 a0018c0018	a0002c0009t0001 a0010c0015t0002 a0014c0003t0001 others(1): Show a0002c0009t0001 a0010c0015t0002 a0014c0003t0001 a0018c0018t0001	a0002c0009t0001g0012 a0010c0015t0002g0023 a0014c0003t0001g0016 others(1): Show a0002c0009t0001g0012 a0010c0015t0002g0023 a0014c0003t0001g0016 a0018c0018t0001g0007	4	18	0.2222	29	c.564 others(50): Show c.5645-71919_5645-71891dupGATACATATGATATATATATCATA TATAT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	26/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64864385	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02965.hp2 HG02630.hp1 HG02965.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0001 a0001c0002 a0008c0001	a0001c0002t0002 a0008c0001t0001 a0001c0002t0002 a0008c0001t0001	a0001c0002t0002g0019 a0008c0001t0001g0013 a0001c0002t0002g0019 a0008c0001t0001g0013	2	3	0.6667	29	c.299 others(50): Show c.2992+22311_2992+22312insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	19/42			chr6	TogoVar
EZH2_chr7_148802383_148889291	148824161	A A	AAAAATTA others(22): Show AAAAATTAGCTGGACGTGGTGGCGGGCGCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp2 HG02145.hp1 others(5): Show HG00738.hp1 HG01175.hp2 HG02145.hp1 HG02630.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0037 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0234	8	378	0.0212	29	c.907 others(46): Show c.907+2264_907+2292dupGGCGCCCGCCACCACGTCCAGCTAATTT T	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	8/19			chr7	TogoVar
F5_chr1_169506951_169591481	169556425	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02897.hp2 others(2): Show HG02109.hp2 HG02145.hp1 HG02897.hp2 HG02965.hp1 HG03471.hp1	a0004 a0007 a0013 others(2): Show a0004 a0007 a0013 a0015 a0036	a0004c0007 a0007c0013 a0013c0031 others(2): Show a0004c0007 a0007c0013 a0013c0031 a0015c0033 a0036c0043	a0004c0007t0003 a0007c0013t0002 a0013c0031t0001 others(2): Show a0004c0007t0003 a0007c0013t0002 a0013c0031t0001 a0015c0033t0006 a0036c0043t0003	a0004c0007t0003g0026 a0007c0013t0002g0046 a0013c0031t0001g0067 others(2): Show a0004c0007t0003g0026 a0007c0013t0002g0046 a0013c0031t0001g0067 a0015c0033t0006g0016 a0036c0043t0003g0015	5	15	0.3333	29	c.952 others(44): Show c.952+220_952+221insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F7_chr13_113100791_113125685	113105040	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG03225.hp1 NA20300.hp2 HG02809.hp2 HG03225.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0007 a0001c0001t0001g0201 a0001c0001t0001g0202	3	73	0.0411	29	c.-80 others(38): Show c.-802_-801insAAAATATATATATATATATATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		750		chr13	TogoVar
FABP9_chr8_81453253_81466579	81463604	A A	AATTTTTT others(22): Show AATTTTTTTTTGATTTTTTTTTTTTTGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	428	0.0023	29	c.-20 others(40): Show c.-2082_-2081insAAACAAAAAAAAAAAAATCAAAAAAAAAT	FABP9	ENSG00000205186.4	transcript	ENST00000379071.4	protein_coding		2026		chr8	TogoVar
FADS2_chr11_61823300_61872354	61861353	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03195.hp2 NA18955.hp1 HG03139.hp2 HG03195.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0064 a0001c0001t0001g0008 a0001c0001t0001g0064	3	111	0.0270	29	c.883 others(46): Show c.883-1601_883-1600insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
FADS2_chr11_61823300_61872354	61861353	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAACAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	109	0.0092	29	c.883 others(46): Show c.883-1604_883-1603insCAAAAAAAAAAAAAAAAAAAAAAAAAAA A	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAHD1_chr16_1822206_1833910	1830944	A A	ACACACAC others(22): Show ACACACACACACACACACACCCCACCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0000 a0002c0003t0002g0000	1	168	0.0060	29	c.30 others(40): Show c.3040_*3041insCACACACACACACACACACCCCACCCACC	FAHD1	ENSG00000180185.13	transcript	ENST00000427358.5	protein_coding		2035		chr16	TogoVar
FAM110B_chr8_57989523_58153784	58006923	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	145	0.0069	29	c.-51 others(50): Show c.-512+12118_-512+12119insATATATATATATATATATATATAT TTTTT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM110B_chr8_57989523_58153784	58006924	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02615.hp2 HG01433.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0036 a0001c0001t0003g0198 a0001c0001t0002g0036 a0001c0001t0003g0198	2	296	0.0068	29	c.-51 others(50): Show c.-512+12118_-512+12119insATATATATATATATATATATATAT ATATA	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	1/3			chr8	TogoVar
FAM110B_chr8_57989523_58153784	58047591	C C	CTCTCTCT others(22): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	30	0.0333	29	c.-41 others(50): Show c.-414+15888_-414+15889insTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	2/3			chr8	TogoVar
FAM120A_chr9_93446685_93571112	93545780	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01261.hp1 HG01884.hp2 others(1): Show HG01081.hp1 HG01261.hp1 HG01884.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0003t0002	a0001c0001t0001g0067 a0001c0001t0002g0013 a0001c0001t0011g0038 others(1): Show a0001c0001t0001g0067 a0001c0001t0002g0013 a0001c0001t0011g0038 a0001c0003t0002g0006	4	100	0.0400	29	c.215 others(48): Show c.2159+2335_2159+2336insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	FAM120A	ENSG00000048828.18	transcript	ENST00000277165.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
FAM133B_chr7_92555758_92595390	92559248	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	71	0.0141	29	c.30 others(40): Show c.3033_*3034insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	FAM133B	ENSG00000234545.8	transcript	ENST00000445716.6	protein_coding		1509		chr7	TogoVar
FAM13A_chr4_88720960_89062185	88945780	G G	GTTGTATA others(22): Show GTTGTATATATATATATAAGTATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0036 a0012c0018t0036	a0012c0018t0036g0206 a0012c0018t0036g0206	1	206	0.0049	29	c.606 others(46): Show c.606-7568_606-7540dupTATATATATACTTATATATATATATACA A	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	4/23			chr4	TogoVar
FAM13A_chr4_88720960_89062185	88995427	A A	AATCAGCT others(22): Show AATCAGCTGCCAGCAGAGGAACATGGAAGG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0078 a0001c0001t0008g0078	1	206	0.0049	29	c.428 others(46): Show c.428-4306_428-4278dupCCTTCCATGTTCCTCTGCTGGCAGCTGA T	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	3/23			chr4	TogoVar
FAM149A_chr4_186099704_186180337	186136964	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0385 a0005c0006t0003g0385	1	328	0.0030	29	c.567 others(48): Show c.567-12209_567-12208insCTCTCTCTCTCTCTCTCTCTCTCTCT CTC	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13			chr4	TogoVar
FAM149A_chr4_186099704_186180337	186136998	C C	CTCTCTCT others(22): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0380 a0001c0001t0006g0380	1	388	0.0026	29	c.567 others(48): Show c.567-12154_567-12153insCTCTCTCTTCTCTCTCTCTCTCTCTC TCT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM167A_chr8_11416476_11471753	11456220	T T	TAAGGTGG others(22): Show TAAGGTGGTTGCCCTGCTGGGTGTGTATGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01891.hp1 others(10): Show HG01167.hp1 HG01169.hp2 HG01891.hp1 HG02004.hp1 HG02258.hp2 HG02280.hp1 HG02630.hp2 HG02717.hp2 HG02886.hp1 HG03209.hp1 HG03225.hp2 HG03516.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0016 a0001c0001t0021 a0001c0001t0051 a0001c0001t0061 a0001c0001t0069 a0001c0010t0001	a0001c0001t0001g0032 a0001c0001t0001g0247 a0001c0001t0001g0248 others(10): Show a0001c0001t0001g0032 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0004g0105 a0001c0001t0013g0107 a0001c0001t0016g0030 a0001c0001t0016g0031 a0001c0001t0021g0262 a0001c0001t0051g0116 a0001c0001t0061g0106 a0001c0001t0069g0317 a0001c0010t0001g0237	13	371	0.0350	29	c.-39 others(50): Show c.-398+10405_-398+10406insCCATACACACCCAGCAGGGCAACC ACCTT	FAM167A	ENSG00000154319.16	transcript	ENST00000284486.9	protein_coding	1/2			chr8	TogoVar
FAM168A_chr11_73395487_73603112	73544663	A A	ATTATATA others(22): Show ATTATATATAATTATATATAATTATATATT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0108 a0001c0002t0051g0108	1	177	0.0056	29	c.-19 others(48): Show c.-19+53231_-19+53259dupAATATATAATTATATATAATTATATA TAA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FAM168A_chr11_73395487_73603112	73544670	A A	ATAATTAT others(22): Show ATAATTATATATAATTATATATTTTATATG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0054 a0001c0002t0021g0054	1	151	0.0066	29	c.-19 others(48): Show c.-19+53224_-19+53252dupCATATAAAATATATAATTATATATAA TTA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FAM168A_chr11_73395487_73603112	73544867	A A	ATATTATA others(22): Show ATATTATATATAAAATATAAAATATATTAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG02723.hp2 others(12): Show HG02451.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(12): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019	15	178	0.0843	29	c.-19 others(48): Show c.-19+53055_-19+53056insATAATATATTTTATATTTTATATATA ATA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FAM171A2_chr17_44348215_44368853	44368146	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	323	0.0031	29	c.-44 others(40): Show c.-4433_-4432insAAATATATATATATATATATATATATATA	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4294		chr17	TogoVar
FAM171A2_chr17_44348215_44368853	44368147	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	381	0.0026	29	c.-44 others(40): Show c.-4434_-4433insTATATATATATATATATATATATATATAT	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4295		chr17	TogoVar
FAM181B_chr11_82724940_82738864	82728870	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 NA18948.hp2 NA18986.hp1 others(5): Show HG02027.hp1 NA18948.hp2 NA18986.hp1 NA19000.hp1 NA19064.hp1 NA19065.hp1 NA19075.hp1 NA19082.hp2	a0002 a0005 a0008 others(1): Show a0002 a0005 a0008 a0010	a0002c0002 a0002c0006 a0005c0007 others(2): Show a0002c0002 a0002c0006 a0005c0007 a0008c0010 a0010c0011	a0002c0002t0001 a0002c0002t0012 a0002c0006t0001 others(3): Show a0002c0002t0001 a0002c0002t0012 a0002c0006t0001 a0005c0007t0001 a0008c0010t0001 a0010c0011t0001	a0002c0002t0001g0000 a0002c0002t0012g0000 a0002c0006t0001g0000 others(3): Show a0002c0002t0001g0000 a0002c0002t0012g0000 a0002c0006t0001g0000 a0005c0007t0001g0000 a0008c0010t0001g0000 a0010c0011t0001g0000	8	319	0.0251	29	c.35 others(40): Show c.3578_*3579insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	FAM181B	ENSG00000182103.5	transcript	ENST00000329203.5	protein_coding		1069		chr11	TogoVar
FAM181B_chr11_82724940_82738864	82734015	A A	ACGCCTTA others(22): Show ACGCCTTAACTCCTTCGTTTCCCTTTGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 NA18941.hp2 NA18948.hp1 others(11): Show HG00558.hp1 NA18941.hp2 NA18948.hp1 NA18949.hp2 NA18955.hp2 NA18977.hp1 NA18978.hp1 NA18989.hp1 NA18994.hp1 NA18999.hp2 NA19009.hp1 NA19063.hp2 NA19074.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0000 a0001c0001t0021g0000 a0001c0001t0002g0000 a0001c0001t0021g0000	14	424	0.0330	29	c.-28 others(38): Show c.-287_-286insGGGCAAAGGGAAACGAAGGAGTTAAGGCG	FAM181B	ENSG00000182103.5	transcript	ENST00000329203.5	protein_coding		152		chr11	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	50	0.0200	29	c.291 others(48): Show c.2916-3057_2916-3056insAAAAATATATATATATATATATATAT ATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0094 a0003c0004t0001g0094	1	50	0.0200	29	c.291 others(48): Show c.2916-3057_2916-3056insAAAAAAATATATATATATATATATAT ATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01981.hp2 HG02004.hp1 others(5): Show HG00738.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02273.hp2 HG02293.hp1 HG03471.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0124 others(5): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0267 a0003c0004t0001g0093 a0003c0004t0001g0095 a0003c0004t0001g0103	8	57	0.1404	29	c.291 others(48): Show c.2916-3057_2916-3056insAAAAAAAAATATATATATATATATAT ATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02451.hp2 HG02895.hp1 others(2): Show HG00733.hp2 HG02451.hp2 HG02895.hp1 HG03041.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0078 a0001c0001t0001g0138 a0001c0001t0005g0028 others(2): Show a0001c0001t0001g0078 a0001c0001t0001g0138 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0033	5	54	0.0926	29	c.291 others(48): Show c.2916-3057_2916-3056insAAAAAAAAAAATATATATATATATAT ATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM186A_chr12_50322309_50401609	50346217	G G	GAGAGAGA others(22): Show GAGAGAGAGAAGGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	330	0.0030	29	c.650 others(48): Show c.6503+4111_6503+4112insTCTTTCTTTCTTTCTTTCCTTCTCTC TCT	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7			chr12	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18947.hp1 HG01175.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0161 a0001c0001t0001g0168	2	82	0.0244	29	c.502 others(46): Show c.502-7999_502-7998insATATATATATATATATATATTTTTTTTT T	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193B_chr5_177514789_177559563	177554489	A A	ACGCCGCG others(22): Show ACGCCGCGCCGCCGCCGCCGCCGCCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03471.hp2 HG03669.hp1 NA18947.hp1 HG03471.hp2 HG03669.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0233 a0001c0001t0028g0234 a0001c0001t0028g0235 a0001c0001t0028g0233 a0001c0001t0028g0234 a0001c0001t0028g0235	3	190	0.0158	29	c.-32 others(36): Show c.-32_-31insGCGGCGGCGGCGGCGGCGGCGGCGCGGCG	FAM193B	ENSG00000146067.17	transcript	ENST00000514747.6	protein_coding	1/9	32		chr5	TogoVar
FAM221A_chr7_23675199_23707650	23690199	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	128	0.0078	29	c.430 others(44): Show c.430+741_430+742insATATATATATATATATATATATATATTTT	FAM221A	ENSG00000188732.11	transcript	ENST00000344962.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM221B_chr9_35811391_35833732	35819839	G G	GACATACT others(22): Show GACATACTTCTCTCTCATACTTCCCAAGAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp1 HG01071.hp2 others(10): Show HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01167.hp1 HG01175.hp2 HG01496.hp2 HG01934.hp2 HG01975.hp2 HG02145.hp1 HG02698.hp2 HG02723.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0095 a0001c0001t0001g0096 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100	13	420	0.0310	29	c.853 others(42): Show c.853+50_853+51insGTCTTGGGAAGTATGAGAGAGAAGTATGT	FAM221B	ENSG00000204930.10	transcript	ENST00000423537.7	protein_coding	4/6			chr9	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0177 a0001c0002t0022g0177	1	97	0.0103	29	c.-40 others(48): Show c.-40-12013_-40-12012insAAAAATATATATATATATATATATAT ATA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0180 a0001c0002t0002g0180	1	97	0.0103	29	c.-40 others(48): Show c.-40-12013_-40-12012insAAAAAAATATATATATATATATATAT ATA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0197 a0001c0002t0004g0197	1	97	0.0103	29	c.-40 others(48): Show c.-40-12013_-40-12012insAAAAAAAAATATATATATATATATAT ATA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28790884	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	13	0.0769	29	c.-40 others(48): Show c.-40-24206_-40-24178dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM53A_chr4_1634887_1689313	1650012	C C	CGTGGCGT others(22): Show CGTGGCGTTTGACTGTGAGGTGGCACAGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00639.hp1 others(30): Show HG00099.hp2 HG00280.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG01074.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01257.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG02040.hp2 HG02602.hp1 HG02615.hp2 HG02698.hp2 HG02735.hp2 HG02922.hp2 HG03017.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0017 a0007c0018 a0001c0002 a0001c0017 a0007c0018	a0001c0002t0005 a0001c0002t0012 a0001c0002t0015 others(4): Show a0001c0002t0005 a0001c0002t0012 a0001c0002t0015 a0001c0002t0040 a0001c0002t0045 a0001c0017t0005 a0007c0018t0005	a0001c0002t0005g0140 a0001c0002t0005g0143 a0001c0002t0005g0159 others(29): Show a0001c0002t0005g0140 a0001c0002t0005g0143 a0001c0002t0005g0159 a0001c0002t0005g0160 a0001c0002t0005g0205 a0001c0002t0005g0263 a0001c0002t0005g0270 a0001c0002t0005g0279 a0001c0002t0005g0298 a0001c0002t0005g0299 a0001c0002t0005g0300 a0001c0002t0005g0301 a0001c0002t0005g0302 a0001c0002t0005g0304 a0001c0002t0005g0305 a0001c0002t0005g0306 a0001c0002t0005g0307 a0001c0002t0005g0314 a0001c0002t0005g0323 a0001c0002t0012g0016 a0001c0002t0012g0017 a0001c0002t0012g0051 a0001c0002t0012g0057 a0001c0002t0012g0058 a0001c0002t0012g0059 a0001c0002t0015g0004 a0001c0002t0015g0094 a0001c0002t0015g0125 a0001c0002t0040g0321 a0001c0002t0045g0303 a0001c0017t0005g0163 a0007c0018t0005g0319	33	348	0.0948	29	c.882 others(46): Show c.882+4965_882+4966insACCTGTGCCACCTCACAGTCAAACGCCA C	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	4/4			chr4	TogoVar
FAM83B_chr6_54841771_54950099	54902664	G G	GGCTCCCC others(22): Show GGCTCCCCTTATTTTGTGTAAAATAAGGGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp1 HG02895.hp2 others(3): Show HG02451.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1	a0003 a0004 a0003 a0004	a0003c0007 a0004c0014 a0003c0007 a0004c0014	a0003c0007t0006 a0004c0014t0002 a0003c0007t0006 a0004c0014t0002	a0003c0007t0006g0169 a0003c0007t0006g0239 a0003c0007t0006g0255 others(3): Show a0003c0007t0006g0169 a0003c0007t0006g0239 a0003c0007t0006g0255 a0003c0007t0006g0261 a0003c0007t0006g0262 a0004c0014t0002g0260	6	270	0.0222	29	c.445 others(48): Show c.445-23705_445-23704insTCCCCTTATTTTGTGTAAAATAAGGG AGC	FAM83B	ENSG00000168143.9	transcript	ENST00000306858.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM83E_chr19_48594961_48620076	48602704	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0116 a0003c0002t0001g0116	1	199	0.0050	29	c.117 others(46): Show c.1176+789_1176+790insATATATATATATATTTTTTTTTTTTTTT T	FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding	6/6			chr19	TogoVar
FAM83E_chr19_48594961_48620076	48602704	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0069 a0004c0006t0001g0069	1	199	0.0050	29	c.117 others(46): Show c.1176+789_1176+790insATATATATATATATATATATATATTTTT T	FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding	6/6			chr19	TogoVar
FANCA_chr16_89732549_89821647	89759318	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0278 a0004c0004t0002g0278	1	14	0.0714	29	c.285 others(46): Show c.2853-642_2853-614dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	29/42			chr16	TogoVar
FANCA_chr16_89732549_89821647	89759318	T T	TATAAAAA others(22): Show TATAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0270 a0003c0003t0002g0270	1	14	0.0714	29	c.285 others(46): Show c.2853-614_2853-613insTTTTTTTTTTTTTTTTTTTTTTTTTTTA T	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	29/42			chr16	TogoVar
FANCA_chr16_89732549_89821647	89759907	G G	GGGGTGCT others(22): Show GGGGTGCTCCACCCACGCTGTGCGGGACCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0249 a0004c0004t0002g0249	1	331	0.0030	29	c.285 others(48): Show c.2853-1231_2853-1203dupAGGTCCCGCACAGCGTGGGTGGAGCA CCC	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	29/42			chr16	TogoVar
FANCA_chr16_89732549_89821647	89759936	T T	TGGGTGCT others(22): Show TGGGTGCTCCACCCACGCTGTGCGGGACCG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0281 a0003c0003t0002g0281	1	332	0.0030	29	c.285 others(48): Show c.2853-1260_2853-1232dupCGGTCCCGCACAGCGTGGGTGGAGCA CCC	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	29/42			chr16	TogoVar
FANCA_chr16_89732549_89821647	89759957	G G	GCGGGACC others(22): Show GCGGGACCGGGGTGCTCCACCCACGCTGTC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	332	0.0030	29	c.285 others(48): Show c.2853-1281_2853-1253dupGACAGCGTGGGTGGAGCACCCCGGTC CCG	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	29/42			chr16	TogoVar

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