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
THSD7B_chr2_136760545_137682718	136825718	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp2 HG01255.hp1 others(4): Show HG00609.hp2 HG00738.hp2 HG01255.hp1 HG01515.hp1 HG02056.hp1 NA18993.hp2 NA19057.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0012	a0001c0001 a0001c0005 a0002c0003 others(3): Show a0001c0001 a0001c0005 a0002c0003 a0003c0002 a0004c0055 a0012c0049	a0001c0001t0010 a0001c0005t0003 a0002c0003t0009 others(3): Show a0001c0001t0010 a0001c0005t0003 a0002c0003t0009 a0003c0002t0003 a0004c0055t0003 a0012c0049t0003	a0001c0001t0010g0087 a0001c0005t0003g0077 a0002c0003t0009g0073 others(4): Show a0001c0001t0010g0087 a0001c0005t0003g0077 a0002c0003t0009g0073 a0002c0003t0009g0075 a0003c0002t0003g0088 a0004c0055t0003g0076 a0012c0049t0003g0074	7	38	0.1842	22	c.-35 others(41): Show c.-35-56412_-35-56411insGTTTTTTTTTTTTTTTTTTTTT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	136825718	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0005 a0001c0053t0005	a0001c0053t0005g0084 a0001c0053t0005g0084	1	32	0.0313	22	c.-35 others(41): Show c.-35-56410_-35-56409insTTTTTTTTTTTTTTTTTTTTTT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	136844462	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0052 a0002c0052	a0002c0052t0008 a0002c0052t0008	a0002c0052t0008g0042 a0002c0052t0008g0042	1	43	0.0233	22	c.-35 others(41): Show c.-35-37670_-35-37649dupGAGAGAGAGAGAGAGAGAGAGA	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	136844490	G G	GAGAGAGA others(15): Show GAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0004 a0001c0021t0004	a0001c0021t0004g0071 a0001c0021t0004g0071	1	90	0.0111	22	c.-35 others(41): Show c.-35-37649_-35-37648insGAGAGAGAGAGAGAGACAGAGA	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	136983358	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0010 a0004c0008t0010	a0004c0008t0010g0079 a0004c0008t0010g0079	1	14	0.0714	22	c.140 others(41): Show c.140-73050_140-73049insACACACACACACACACACACAC	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137089266	G G	GTGTATGT others(15): Show GTGTATGTATATATACATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19043.hp1 NA19030.hp2 NA19043.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0007 a0005c0009t0001 a0005c0009t0007	a0005c0009t0001g0009 a0005c0009t0007g0008 a0005c0009t0001g0009 a0005c0009t0007g0008	2	68	0.0294	22	c.951 others(39): Show c.951-5604_951-5603insATGTATATATACATATATATGT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137389193	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03195.hp2 HG03225.hp2 HG02280.hp2 HG03195.hp2 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0001c0021 a0002c0044 a0001c0012 a0001c0021 a0002c0044	a0001c0012t0004 a0001c0021t0004 a0002c0044t0007 a0001c0012t0004 a0001c0021t0004 a0002c0044t0007	a0001c0012t0004g0011 a0001c0021t0004g0071 a0002c0044t0007g0059 a0001c0012t0004g0011 a0001c0021t0004g0071 a0002c0044t0007g0059	3	18	0.1667	22	c.250 others(43): Show c.2501-16417_2501-16396dupATATATATATATATATATATAT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD8_chr19_12797069_12809389	12805131	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	68	0.0147	22	c.82 others(31): Show c.828_*829insAAAAAAAAAAAAAAAAAAAAAA	THSD8	ENSG00000284491.3	transcript	ENST00000639810.3	protein_coding		743		chr19	TogoVar
THUMPD2_chr2_39731061_39784258	39767603	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	108	0.0093	22	c.750 others(37): Show c.750+820_750+821insTTTTTTTTTTTTTTTTTTTTTT	THUMPD2	ENSG00000138050.15	transcript	ENST00000505747.6	protein_coding	4/9			chr2	TogoVar
TIAM1_chr21_31113418_31349261	31210594	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	202	0.0050	22	c.221 others(39): Show c.2218-380_2218-379insTTCTTTCTTTCTTTCTTTCTTT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	10/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31222707	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0030 a0002c0011t0030	a0002c0011t0030g0161 a0002c0011t0030g0161	1	117	0.0085	22	c.199 others(39): Show c.1995+698_1995+699insAATATATATATATATATATATA	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	8/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31222707	A A	ATATATTT others(15): Show ATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0006 a0002c0003t0011g0006	1	117	0.0085	22	c.199 others(39): Show c.1995+698_1995+699insAAAAAAAAAAAAAAAAAATATA	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	8/27			chr21	TogoVar
TIAM2_chr6_154990315_155262723	155013917	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18999.hp1 NA18747.hp2 NA18999.hp1	a0014 a0029 a0014 a0029	a0014c0055 a0029c0026 a0014c0055 a0029c0026	a0014c0055t0001 a0029c0026t0001 a0014c0055t0001 a0029c0026t0001	a0014c0055t0001g0057 a0029c0026t0001g0060 a0014c0055t0001g0057 a0029c0026t0001g0060	2	36	0.0556	22	c.-20 others(43): Show c.-209+18440_-209+18461dupACACACACACACACACACACAC	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155028088	A A	ATACTATA others(15): Show ATACTATAATATATGTACTGTGT	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA18968.hp1 HG01071.hp2 NA18968.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0001 a0001c0001t0004 a0002c0003t0001	a0001c0001t0004g0135 a0002c0003t0001g0104 a0001c0001t0004g0135 a0002c0003t0001g0104	2	228	0.0088	22	c.-20 others(43): Show c.-209+32598_-209+32599insCTATAATATATGTACTGTGTTA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155028122	A A	ATACTATA others(15): Show ATACTATAATATATGTACTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02965.hp2 HG01891.hp1 HG02145.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0042 a0001c0043 a0001c0001 a0001c0042 a0001c0043	a0001c0001t0021 a0001c0042t0006 a0001c0043t0008 a0001c0001t0021 a0001c0042t0006 a0001c0043t0008	a0001c0001t0021g0229 a0001c0042t0006g0048 a0001c0043t0008g0065 a0001c0001t0021g0229 a0001c0042t0006g0048 a0001c0043t0008g0065	3	228	0.0132	22	c.-20 others(43): Show c.-209+32632_-209+32633insCTATAATATATGTACTGTGTTA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155029742	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0018 a0018	a0018c0061 a0018c0061	a0018c0061t0031 a0018c0061t0031	a0018c0061t0031g0064 a0018c0061t0031g0064	1	176	0.0057	22	c.-20 others(43): Show c.-209+34265_-209+34266insATATATATATATATATATATAT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155082709	T T	TAAATAAA others(15): Show TAAATAAATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0004 a0004	a0004c0056 a0004c0056	a0004c0056t0004 a0004c0056t0004	a0004c0056t0004g0079 a0004c0056t0004g0079	1	228	0.0044	22	c.-20 others(41): Show c.-208-7579_-208-7578insAATAAATAAATAAATAAATAAA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155187573	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01255.hp2 HG01884.hp1 others(1): Show HG01099.hp2 HG01255.hp2 HG01884.hp1 HG02300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0007 a0002c0031 a0006c0010 a0001c0007 a0002c0031 a0006c0010	a0001c0007t0001 a0001c0007t0008 a0002c0031t0020 others(1): Show a0001c0007t0001 a0001c0007t0008 a0002c0031t0020 a0006c0010t0002	a0001c0007t0001g0136 a0001c0007t0008g0148 a0002c0031t0020g0198 others(1): Show a0001c0007t0001g0136 a0001c0007t0008g0148 a0002c0031t0020g0198 a0006c0010t0002g0209	4	91	0.0440	22	c.306 others(41): Show c.3064+4075_3064+4096dupTTTTTTTTTTTTTTTTTTTTTT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TICRR_chr15_89570469_89633023	89609100	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA21309.hp1 HG01106.hp1 NA21309.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0207 a0004c0006t0001g0252 a0004c0006t0001g0207 a0004c0006t0001g0252	2	61	0.0328	22	c.286 others(39): Show c.2869+158_2869+179dupTTTTTTTTTTTTTTTTTTTTTT	TICRR	ENSG00000140534.14	transcript	ENST00000268138.12	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
TIGAR_chr12_4316213_4365028	4363262	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0056 a0001c0001t0008g0056	1	16	0.0625	22	c.10 others(35): Show c.10571_*10572insTGTGTGTGTGTGTGTGTGTGTG	TIGAR	ENSG00000078237.7	transcript	ENST00000179259.6	protein_coding		3235		chr12	TogoVar
TIGIT_chr3_114289028_114315288	114303623	A A	ATATATAT others(15): Show ATATATATATATACATATATATG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0186 a0001c0001t0006g0186	1	421	0.0024	22	c.498 others(39): Show c.498+3928_498+3929insTATACATATATATGTATATATA	TIGIT	ENSG00000181847.12	transcript	ENST00000383671.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
TIMM17A_chr1_201950503_201975664	201966991	T T	TTATGTGT others(15): Show TTATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG01109.hp1 others(1): Show HG00735.hp1 HG01106.hp1 HG01109.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0047 a0001c0001t0001g0173 a0001c0001t0001g0174	4	208	0.0192	22	c.430 others(39): Show c.430+1449_430+1450insATGTGTGTGTGTGTGTGTGTGT	TIMM17A	ENSG00000134375.11	transcript	ENST00000367287.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TIMM22_chr17_992129_1008671	999323	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02683.hp1 NA20805.hp2 HG02074.hp1 HG02683.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0034 a0001c0001t0003 a0001c0001t0020 a0001c0001t0034	a0001c0001t0003g0035 a0001c0001t0020g0035 a0001c0001t0034g0035 a0001c0001t0003g0035 a0001c0001t0020g0035 a0001c0001t0034g0035	3	85	0.0353	22	c.436 others(37): Show c.436-174_436-153dupTATATATATATATATATATATA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
TIMM22_chr17_992129_1008671	999358	T T	TATATATA others(15): Show TATATATATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp1 HG03453.hp1 HG02976.hp2 HG03098.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0030	3	247	0.0121	22	c.436 others(37): Show c.436-153_436-152insTATATATATATACATATATACA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
TIMM22_chr17_992129_1008671	999358	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0090 a0001c0001t0011g0090	1	245	0.0041	22	c.436 others(37): Show c.436-153_436-152insTATATATATATATATATACACA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
TIMM9_chr14_58403495_58432531	58404099	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 NA19087.hp2 HG01109.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0217 a0001c0001t0001g0223	2	217	0.0092	22	c.49 others(33): Show c.4934_*4935insTATATATATATATATACACACA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4395		chr14	TogoVar
TIMP2_chr17_78847977_78930387	78893212	T T	TGTGTGTG others(15): Show TGTGTGTGCAGGGGTGTATAGAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03209.hp1 HG03453.hp2 others(1): Show HG03130.hp1 HG03209.hp1 HG03453.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0270 a0001c0001t0002g0045 a0001c0001t0005g0164 others(1): Show a0001c0001t0001g0270 a0001c0001t0002g0045 a0001c0001t0005g0164 a0001c0001t0005g0272	4	314	0.0127	22	c.131 others(41): Show c.131-19294_131-19293insTTCTATACACCCCTGCACACAC	TIMP2	ENSG00000035862.13	transcript	ENST00000262768.11	protein_coding	1/4			chr17	TogoVar
TINAGL1_chr1_31571515_31592686	31580199	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp1 HG00642.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0027 a0001c0001t0001g0029	2	312	0.0064	22	c.374 others(37): Show c.374+945_374+946insCTCTCTCTGTCTCTCTCTCTCT	TINAGL1	ENSG00000142910.16	transcript	ENST00000271064.12	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
TINAGL1_chr1_31571515_31592686	31580217	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	392	0.0026	22	c.374 others(37): Show c.374+959_374+960insCTCTCTCTCTCTGTCTCTCTCT	TINAGL1	ENSG00000142910.16	transcript	ENST00000271064.12	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
TINAG_chr6_54303441_54395142	54360841	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01891.hp1 HG02055.hp2 others(3): Show HG01167.hp1 HG01891.hp1 HG02055.hp2 HG03139.hp2 NA18943.hp1 NA18956.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0001 a0001c0001t0001 a0007c0007t0001	a0001c0001t0001g0109 a0001c0001t0001g0168 a0001c0001t0001g0286 others(3): Show a0001c0001t0001g0109 a0001c0001t0001g0168 a0001c0001t0001g0286 a0001c0001t0001g0319 a0007c0007t0001g0083 a0007c0007t0001g0084	6	63	0.0952	22	c.125 others(41): Show c.1250+6215_1250+6236dupTTTTTTTTTTTTTTTTTTTTTT	TINAG	ENSG00000137251.16	transcript	ENST00000259782.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIRAP_chr11_126278093_126299933	126285243	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	58	0.0172	22	c.-21 others(41): Show c.-217+2091_-217+2092insGTATATATATATATATATATAT	TIRAP	ENSG00000150455.15	transcript	ENST00000392679.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TIRAP_chr11_126278093_126299933	126285243	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01081.hp2 HG01106.hp2 others(7): Show HG00621.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01346.hp2 NA18612.hp1 NA18959.hp2 NA19066.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0114 a0001c0003t0004g0007 a0001c0003t0004g0068 others(1): Show a0001c0001t0001g0114 a0001c0003t0004g0007 a0001c0003t0004g0068 a0001c0003t0004g0078	10	67	0.1493	22	c.-21 others(41): Show c.-217+2091_-217+2092insGTGTGTATATATATATATATAT	TIRAP	ENSG00000150455.15	transcript	ENST00000392679.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TIRAP_chr11_126278093_126299933	126285243	G G	GTGTGTGT others(15): Show GTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02922.hp2 HG03654.hp2 HG02523.hp2 HG02922.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0003t0004 a0001c0001t0001 a0001c0001t0007 a0001c0003t0004	a0001c0001t0001g0088 a0001c0001t0007g0089 a0001c0003t0004g0079 a0001c0001t0001g0088 a0001c0001t0007g0089 a0001c0003t0004g0079	3	60	0.0500	22	c.-21 others(41): Show c.-217+2091_-217+2092insGTGTGTGTATATATATATATAT	TIRAP	ENSG00000150455.15	transcript	ENST00000392679.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TIRAP_chr11_126278093_126299933	126285243	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01099.hp1 HG01361.hp2 others(7): Show HG00323.hp2 HG01099.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG02735.hp2 HG02965.hp2 NA18955.hp2 NA19065.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0011 a0003c0004t0001 a0001c0001t0001 a0001c0001t0011 a0003c0004t0001	a0001c0001t0001g0098 a0001c0001t0011g0034 a0003c0004t0001g0024 others(3): Show a0001c0001t0001g0098 a0001c0001t0011g0034 a0003c0004t0001g0024 a0003c0004t0001g0041 a0003c0004t0001g0123 a0003c0004t0001g0124	10	67	0.1493	22	c.-21 others(41): Show c.-217+2091_-217+2092insGTGTGTGTGTATATATATATAT	TIRAP	ENSG00000150455.15	transcript	ENST00000392679.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TJAP1_chr6_43472570_43511554	43502076	A A	ACACACAC others(15): Show ACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0034 a0001c0005t0010g0034	1	93	0.0108	22	c.291 others(37): Show c.291-206_291-205insACACACACTCTCTCTCTCTCTC	TJAP1	ENSG00000137221.14	transcript	ENST00000372449.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TJAP1_chr6_43472570_43511554	43502076	A A	ACACACAC others(15): Show ACACACACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0057 a0002c0003t0001g0057	1	93	0.0108	22	c.291 others(37): Show c.291-206_291-205insACACACTCTCTCTCTCTCTCTC	TJAP1	ENSG00000137221.14	transcript	ENST00000372449.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TJAP1_chr6_43472570_43511554	43502076	A A	ACACACTC others(15): Show ACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18966.hp2 NA18942.hp1 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	2	94	0.0213	22	c.291 others(37): Show c.291-206_291-205insACACTCTCTCTCTCTCTCTCTC	TJAP1	ENSG00000137221.14	transcript	ENST00000372449.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TK2_chr16_66503003_66555122	66505192	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 NA19090.hp2 HG03834.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0195 a0001c0001t0005g0040 a0001c0001t0004g0195 a0001c0001t0005g0040	2	269	0.0074	22	c.67 others(33): Show c.6775_*6776insTATATATATATATATATATATA	TK2	ENSG00000166548.17	transcript	ENST00000544898.6	protein_coding		2810		chr16	TogoVar
TK2_chr16_66503003_66555122	66505212	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 NA18989.hp2 HG02886.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0027 a0001c0001t0005 a0001c0001t0027	a0001c0001t0005g0095 a0001c0001t0027g0185 a0001c0001t0005g0095 a0001c0001t0027g0185	2	178	0.0112	22	c.67 others(33): Show c.6755_*6756insAATATATATATATATATATATA	TK2	ENSG00000166548.17	transcript	ENST00000544898.6	protein_coding		2790		chr16	TogoVar
TKTL1_chrX_154290795_154335350	154295407	C C	CCACGTGC others(15): Show CCACGTGCGGCACCACCCCCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03041.hp1 HG03130.hp1 others(1): Show HG01884.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0002g0091 others(1): Show a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0002g0091 a0001c0001t0002g0215	4	269	0.0149	22	c.-45 others(31): Show c.-453_-452insCACGTGCGGCACCACCCCCTGA	TKTL1	ENSG00000007350.18	transcript	ENST00000369915.8	protein_coding		387		chrX	TogoVar
TKTL1_chrX_154290795_154335350	154295415	A A	AGCACCAC others(15): Show AGCACCACCCCCTGACACGTGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG01069.hp1 others(14): Show HG00280.hp1 HG00621.hp1 HG01069.hp1 HG01109.hp1 HG01168.hp1 HG01361.hp1 HG02896.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp2 NA18940.hp1 NA18948.hp1 NA18965.hp1 NA18979.hp1 NA18985.hp1 NA18998.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0013 a0001c0001t0001g0092 a0001c0001t0001g0118 others(14): Show a0001c0001t0001g0013 a0001c0001t0001g0092 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0002g0100 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0185 a0001c0001t0002g0214 a0001c0001t0003g0096 a0001c0001t0004g0093	17	174	0.0977	22	c.-44 others(31): Show c.-445_-444insGCACCACCCCCTGACACGTGCG	TKTL1	ENSG00000007350.18	transcript	ENST00000369915.8	protein_coding		379		chrX	TogoVar
TLCD5_chr11_120320299_120338686	120329004	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01123.hp2 HG01243.hp2 others(10): Show HG01074.hp2 HG01123.hp2 HG01243.hp2 HG01884.hp2 HG02148.hp2 HG02572.hp2 HG02647.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG03209.hp1 HG03225.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0022	a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0001t0002g0224 others(9): Show a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0230 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0006g0046 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0014g0228 a0001c0001t0014g0229 a0001c0001t0022g0234	13	274	0.0474	22	c.200 others(37): Show c.200-957_200-956insGTGTGTGTGTGTGTGTGTGTGT	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLE1_chr9_81578683_81694547	81587914	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTCATCCCGCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp2 HG01071.hp1 others(17): Show HG00558.hp2 HG00735.hp2 HG01071.hp1 HG01123.hp2 HG01515.hp2 HG02071.hp2 HG02895.hp2 HG02897.hp2 HG03490.hp2 HG03492.hp1 HG04199.hp1 HG04228.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18966.hp1 NA19030.hp2 NA19058.hp2 NA19068.hp2 NA20905.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0014 a0001c0004 a0001c0005 a0001c0014	a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 others(4): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0011 a0001c0005t0001 a0001c0005t0002 a0001c0014t0002	a0001c0004t0001g0022 a0001c0004t0001g0098 a0001c0004t0001g0120 others(17): Show a0001c0004t0001g0022 a0001c0004t0001g0098 a0001c0004t0001g0120 a0001c0004t0001g0128 a0001c0004t0001g0209 a0001c0004t0001g0225 a0001c0004t0002g0244 a0001c0004t0002g0291 a0001c0004t0003g0324 a0001c0004t0003g0335 a0001c0004t0003g0350 a0001c0004t0011g0355 a0001c0005t0001g0069 a0001c0005t0001g0170 a0001c0005t0001g0175 a0001c0005t0001g0191 a0001c0005t0001g0192 a0001c0005t0002g0271 a0001c0005t0002g0279 a0001c0014t0002g0278	20	354	0.0565	22	c.183 others(37): Show c.1830-87_1830-86insGGCGGGATGACACACACACACA	TLE1	ENSG00000196781.16	transcript	ENST00000376499.8	protein_coding	16/19			chr9	TogoVar
TLE1_chr9_81578683_81694547	81625911	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	12	0.0833	22	c.595 others(39): Show c.595-5376_595-5355dupTTTTTTTTTTTTTTTTTTTTTT	TLE1	ENSG00000196781.16	transcript	ENST00000376499.8	protein_coding	8/19			chr9	TogoVar
TLE1_chr9_81578683_81694547	81675698	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02886.hp2 HG02258.hp2 HG02280.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0016 a0001c0006t0003 a0001c0001t0001 a0001c0002t0016 a0001c0006t0003	a0001c0001t0001g0204 a0001c0002t0016g0198 a0001c0006t0003g0338 a0001c0001t0001g0204 a0001c0002t0016g0198 a0001c0006t0003g0338	3	220	0.0136	22	c.234 others(39): Show c.234+9977_234+9978insAAAAAAAAAAAAAAAAAAAAAA	TLE1	ENSG00000196781.16	transcript	ENST00000376499.8	protein_coding	4/19			chr9	TogoVar
TLE2_chr19_2992644_3034280	2998275	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	227	0.0044	22	c.212 others(39): Show c.2125-321_2125-320insTACACACACACACACACACACA	TLE2	ENSG00000065717.16	transcript	ENST00000262953.11	protein_coding	19/19			chr19	TogoVar
TLE4_chr9_79566965_79731882	79575021	A A	AAGAATCA others(15): Show AAGAATCACAGTCACCCTGCCTC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0016 a0004c0011t0001g0016	1	256	0.0039	22	c.207 others(35): Show c.207+88_207+89insATCACAGTCACCCTGCCTCAGA	TLE4	ENSG00000106829.21	transcript	ENST00000376552.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
TLE4_chr9_79566965_79731882	79588135	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02083.hp1 HG02132.hp1 others(6): Show HG01346.hp2 HG02083.hp1 HG02132.hp1 HG03704.hp2 NA18951.hp1 NA19009.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 others(6): Show a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043	9	100	0.0900	22	c.252 others(41): Show c.252+11965_252+11986dupGTGTGTGTGTGTGTGTGTGTGT	TLE4	ENSG00000106829.21	transcript	ENST00000376552.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
TLE6_chr19_2972564_3000179	2998275	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0037 a0001c0003t0001g0037	1	229	0.0044	22	c.32 others(33): Show c.3271_*3272insTGTGTGTGTGTGTGTGTGTGTA	TLE6	ENSG00000104953.20	transcript	ENST00000246112.9	protein_coding		3097		chr19	TogoVar
TLK1_chr2_170985823_171165893	171101346	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA20300.hp1 HG01074.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0263 a0001c0001t0026g0264 a0001c0001t0026g0263 a0001c0001t0026g0264	2	143	0.0140	22	c.258 others(41): Show c.258+16392_258+16393insTTTTTTTTTTTTTTTTTTTTTT	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding	2/20			chr2	TogoVar

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