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
THRB_chr3_24112153_24499850	24188858	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01433.hp1 HG03225.hp1 others(2): Show HG01081.hp2 HG01433.hp1 HG03225.hp1 NA19058.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009	a0001c0001t0001g0053 a0001c0001t0002g0098 a0001c0001t0003g0126 others(2): Show a0001c0001t0001g0053 a0001c0001t0002g0098 a0001c0001t0003g0126 a0001c0001t0008g0169 a0001c0001t0009g0102	5	54	0.0926	18	c.283 others(35): Show c.283+1198_283+1215dupATATATATATATATATAT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	5/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24233560	G G	GAAGAAAG others(11): Show GAAGAAAGAAAGAGAAAGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp1 HG01169.hp1 others(9): Show HG01099.hp1 HG01167.hp1 HG01169.hp1 HG02145.hp2 HG02486.hp1 HG02895.hp1 HG03098.hp2 HG03654.hp1 NA18975.hp2 NA19010.hp1 NA19043.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0028 a0001c0001t0045 a0001c0001t0052 a0001c0001t0054 a0001c0002t0003	a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0003g0126 others(9): Show a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0003g0126 a0001c0001t0006g0024 a0001c0001t0006g0129 a0001c0001t0007g0142 a0001c0001t0007g0143 a0001c0001t0028g0041 a0001c0001t0045g0076 a0001c0001t0052g0007 a0001c0001t0054g0176 a0001c0002t0003g0032	12	103	0.1165	18	c.-42 others(35): Show c.-42-4560_-42-4559insTCTTTCTCTTTCTTTCTT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	3/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24272347	A A	AAACAACA others(11): Show AAACAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG03195.hp2 others(3): Show HG02055.hp2 HG02486.hp2 HG03195.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0001t0035 a0001c0001t0040 others(3): Show a0001c0001t0018 a0001c0001t0035 a0001c0001t0040 a0001c0001t0048 a0001c0002t0003 a0001c0002t0013	a0001c0001t0018g0170 a0001c0001t0035g0106 a0001c0001t0040g0132 others(3): Show a0001c0001t0018g0170 a0001c0001t0035g0106 a0001c0001t0040g0132 a0001c0001t0048g0088 a0001c0002t0003g0117 a0001c0002t0013g0034	6	115	0.0522	18	c.-43 others(37): Show c.-43+24861_-43+24878dupGTTGTTGTTGTTGTTGTT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	3/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24326756	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0130 a0001c0001t0004g0130	1	63	0.0159	18	c.-18 others(39): Show c.-189+10526_-189+10543dupAAAAAAAAAAAAAAAAAA	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	2/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24481229	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03209.hp1 HG03098.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0052 a0001c0001t0011 a0001c0001t0052	a0001c0001t0011g0002 a0001c0001t0052g0007 a0001c0001t0011g0002 a0001c0001t0052g0007	2	72	0.0278	18	c.-26 others(39): Show c.-261+13405_-261+13422dupAAAAAAAAAAAAAAAAAA	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	1/10			chr3	TogoVar
THSD4_chr15_71110471_71788383	71263331	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	2	0.5000	18	c.101 others(37): Show c.1015+6632_1015+6633insTATATATATATATATATA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71326696	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0103 a0001c0002t0005g0103	1	92	0.0109	18	c.101 others(39): Show c.1015+69982_1015+69983insTATATATATATATATATA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71326700	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0108 a0001c0003t0003g0108	1	22	0.0455	18	c.101 others(39): Show c.1015+69986_1015+69987insAAAAAATATATATATATA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71326700	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0044 a0001c0004t0044	a0001c0004t0044g0029 a0001c0004t0044g0029	1	22	0.0455	18	c.101 others(39): Show c.1015+69986_1015+69987insAATATATATATATATATA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71326700	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0056 a0001c0001t0022g0056	1	22	0.0455	18	c.101 others(39): Show c.1015+69994_1015+70011dupATATATATATATATATAT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71332892	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	4	0.2500	18	c.101 others(39): Show c.1015+76193_1015+76194insTTTTTTTTTTTTTTTTTT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71365131	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01361.hp2 HG01496.hp1 others(3): Show HG00099.hp2 HG01361.hp2 HG01496.hp1 HG03654.hp1 HG03710.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0011 a0001c0002t0009 others(2): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0009 a0001c0004t0007 a0001c0004t0017	a0001c0001t0001g0025 a0001c0001t0011g0001 a0001c0002t0009g0077 others(3): Show a0001c0001t0001g0025 a0001c0001t0011g0001 a0001c0002t0009g0077 a0001c0002t0009g0091 a0001c0004t0007g0062 a0001c0004t0017g0032	6	24	0.2500	18	c.101 others(39): Show c.1016-46538_1016-46521dupGTGTGTGTGTGTGTGTGT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71389810	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0089 a0001c0001t0036g0089	1	41	0.0244	18	c.101 others(39): Show c.1016-21860_1016-21859insTTTTTTTTTTTTTTTTTT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71426397	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA20129.hp1 HG03453.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0001 a0001c0001t0002 a0001c0007t0001	a0001c0001t0002g0102 a0001c0007t0001g0008 a0001c0001t0002g0102 a0001c0007t0001g0008	2	46	0.0435	18	c.115 others(39): Show c.1152+14583_1152+14584insGTGTGTGTTTGTGTGTGT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71442660	G G	GTGTGTGT others(11): Show GTGTGTGTATGTATGTATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG04228.hp1 others(1): Show HG02055.hp2 HG02145.hp2 HG04228.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0020 a0001c0002 a0001c0008 a0001c0020	a0001c0002t0001 a0001c0008t0005 a0001c0008t0007 others(1): Show a0001c0002t0001 a0001c0008t0005 a0001c0008t0007 a0001c0020t0002	a0001c0002t0001g0023 a0001c0008t0005g0083 a0001c0008t0007g0081 others(1): Show a0001c0002t0001g0023 a0001c0008t0005g0083 a0001c0008t0007g0081 a0001c0020t0002g0082	4	62	0.0645	18	c.115 others(39): Show c.1152+30838_1152+30839insGTGTGTATGTATGTATAT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71442660	G G	GTGTGTGT others(11): Show GTGTGTGTGTATGTATGTA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0107 a0002c0005t0004g0107	1	59	0.0169	18	c.115 others(39): Show c.1152+30838_1152+30839insGTGTGTGTATGTATGTAT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71532263	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01169.hp1 HG04228.hp1 HG01081.hp2 HG01169.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 a0001c0001t0001 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0087 a0001c0001t0011g0094 a0001c0002t0001g0023 a0001c0001t0001g0087 a0001c0001t0011g0094 a0001c0002t0001g0023	3	68	0.0441	18	c.115 others(41): Show c.1152+120444_1152+120461dupAGAGAGAGAGAGAGAGAG	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71532283	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp1 HG02896.hp2 others(2): Show HG02559.hp2 HG02809.hp1 HG02896.hp2 HG03579.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0005 others(1): Show a0001c0001 a0001c0006 a0002c0005 a0002c0015	a0001c0001t0030 a0001c0001t0041 a0001c0006t0007 others(2): Show a0001c0001t0030 a0001c0001t0041 a0001c0006t0007 a0002c0005t0004 a0002c0015t0007	a0001c0001t0030g0035 a0001c0001t0041g0098 a0001c0006t0007g0030 others(2): Show a0001c0001t0030g0035 a0001c0001t0041g0098 a0001c0006t0007g0030 a0002c0005t0004g0107 a0002c0015t0007g0092	5	66	0.0758	18	c.115 others(41): Show c.1152+120461_1152+120462insAGAGAGAGAGAGAGTGTG	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71716561	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0099 a0001c0008t0002g0099	1	66	0.0152	18	c.135 others(39): Show c.1358-11985_1358-11968dupGTGTGTGTGTGTGTGTGT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71724287	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	67	0.0149	18	c.135 others(37): Show c.1358-4261_1358-4260insATATATATATATATATTT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD7A_chr7_11365365_11837198	11425731	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0011 a0011	a0011c0058 a0011c0058	a0011c0058t0058 a0011c0058t0058	a0011c0058t0058g0159 a0011c0058t0058g0159	1	73	0.0137	18	c.324 others(35): Show c.3249+917_3250-903dupGTGTGTGTGTGTGTGTGT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	15/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11512942	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA18747.hp2 NA19009.hp1 others(1): Show HG01257.hp2 NA18747.hp2 NA19009.hp1 NA19075.hp1	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0019	a0002c0007 a0003c0055 a0006c0015 others(1): Show a0002c0007 a0003c0055 a0006c0015 a0019c0022	a0002c0007t0011 a0003c0055t0002 a0006c0015t0004 others(1): Show a0002c0007t0011 a0003c0055t0002 a0006c0015t0004 a0019c0022t0001	a0002c0007t0011g0044 a0003c0055t0002g0090 a0006c0015t0004g0096 others(1): Show a0002c0007t0011g0044 a0003c0055t0002g0090 a0006c0015t0004g0096 a0019c0022t0001g0004	4	81	0.0494	18	c.182 others(39): Show c.1822+28459_1822+28476dupATATATATATATATATAT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	6/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11546202	G G	GCGCGCGC others(11): Show GCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0032 a0001c0028t0032	a0001c0028t0032g0025 a0001c0028t0032g0025	1	60	0.0167	18	c.145 others(37): Show c.1454-3086_1454-3085insTGTGTGTGTGTGCGCGCG	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	4/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11546223	C C	CACACACA others(11): Show CACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03225.hp1 HG00741.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0006 a0001c0016t0029 a0001c0002t0006 a0001c0016t0029	a0001c0002t0006g0157 a0001c0016t0029g0066 a0001c0002t0006g0157 a0001c0016t0029g0066	2	149	0.0134	18	c.145 others(37): Show c.1454-3107_1454-3106insTTGTGTGTGTGTGTGTGT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	4/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11566965	T T	TAGCGGGG others(11): Show TAGCGGGGGGGGAGGGGGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0011 a0011	a0011c0058 a0011c0058	a0011c0058t0058 a0011c0058t0058	a0011c0058t0058g0159 a0011c0058t0058g0159	1	17	0.0588	18	c.145 others(39): Show c.1453+23494_1453+23495insCCCCCCTCCCCCCCCGCT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	4/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11566965	T T	TAGCGGGG others(11): Show TAGCGGGGGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0062 a0001c0003t0062	a0001c0003t0062g0167 a0001c0003t0062g0167	1	17	0.0588	18	c.145 others(39): Show c.1453+23494_1453+23495insGCCCCCCCCCCCCCCGCT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	4/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11566965	T T	TAGCGGGG others(11): Show TAGCGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01069.hp2 others(13): Show HG00738.hp1 HG01069.hp1 HG01069.hp2 HG02027.hp1 HG02109.hp2 HG02615.hp2 HG02630.hp2 HG02965.hp2 HG03225.hp1 HG03491.hp1 HG03516.hp2 NA18522.hp1 NA19058.hp2 NA19062.hp1 NA19079.hp1 NA20805.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0002c0007 a0002c0008 a0002c0019 a0005c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0021 a0001c0001t0043 a0001c0002t0006 a0001c0002t0034 a0001c0006t0001 a0001c0010t0025 a0002c0007t0001 a0002c0008t0024 a0002c0019t0003 a0005c0013t0001 a0005c0013t0017	a0001c0001t0002g0065 a0001c0001t0004g0104 a0001c0001t0006g0031 others(13): Show a0001c0001t0002g0065 a0001c0001t0004g0104 a0001c0001t0006g0031 a0001c0001t0006g0144 a0001c0001t0021g0078 a0001c0001t0043g0036 a0001c0002t0006g0157 a0001c0002t0034g0111 a0001c0006t0001g0034 a0001c0006t0001g0120 a0001c0010t0025g0083 a0002c0007t0001g0017 a0002c0008t0024g0003 a0002c0019t0003g0107 a0005c0013t0001g0121 a0005c0013t0017g0110	16	32	0.5000	18	c.145 others(39): Show c.1453+23494_1453+23495insCCCCCCCCCCCCCCCGCT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	4/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11648637	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01243.hp2 HG02257.hp1 others(5): Show HG00544.hp2 HG01243.hp2 HG02257.hp1 HG02976.hp2 HG03225.hp2 HG03491.hp2 NA18522.hp1 NA19075.hp2	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0016	a0001c0001 a0001c0044 a0004c0050 others(2): Show a0001c0001 a0001c0044 a0004c0050 a0008c0018 a0016c0065	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0021 a0001c0044t0001 a0004c0050t0001 a0008c0018t0037 a0016c0065t0018	a0001c0001t0001g0089 a0001c0001t0002g0065 a0001c0001t0007g0071 others(5): Show a0001c0001t0001g0089 a0001c0001t0002g0065 a0001c0001t0007g0071 a0001c0001t0021g0064 a0001c0044t0001g0150 a0004c0050t0001g0023 a0008c0018t0037g0033 a0016c0065t0018g0177	8	78	0.1026	18	c.191 others(37): Show c.191-11694_191-11677dupACACACACACACACACAC	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11706630	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01243.hp1 HG02055.hp2 others(3): Show HG00642.hp1 HG01243.hp1 HG02055.hp2 HG02630.hp1 NA19030.hp2 NA21309.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0012 others(2): Show a0001c0001 a0001c0002 a0001c0012 a0001c0041 a0011c0058	a0001c0001t0009 a0001c0002t0006 a0001c0012t0009 others(2): Show a0001c0001t0009 a0001c0002t0006 a0001c0012t0009 a0001c0041t0019 a0011c0058t0058	a0001c0001t0009g0147 a0001c0001t0009g0148 a0001c0002t0006g0142 others(3): Show a0001c0001t0009g0147 a0001c0001t0009g0148 a0001c0002t0006g0142 a0001c0012t0009g0145 a0001c0041t0019g0026 a0011c0058t0058g0159	6	44	0.1364	18	c.191 others(37): Show c.191-69687_191-69670dupAAAAAAAAAAAAAAAAAA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769151	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0013 a0002c0007t0002g0013	1	153	0.0065	18	c.190 others(37): Show c.190+62605_190+62606insAAAAAAAAAAAAAAAAAA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0029 a0001c0016t0029	a0001c0016t0029g0066 a0001c0016t0029g0066	1	60	0.0167	18	c.190 others(37): Show c.190+62603_190+62604insAATATATATATATATATA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18959.hp1 HG02300.hp1 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0005 a0001c0012 a0002c0005	a0001c0012t0001 a0002c0005t0003 a0001c0012t0001 a0002c0005t0003	a0001c0012t0001g0007 a0002c0005t0003g0135 a0001c0012t0001g0007 a0002c0005t0003g0135	2	61	0.0328	18	c.190 others(37): Show c.190+62603_190+62604insAAAAAAAAAAAAAAAAAA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11778156	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00738.hp2 others(10): Show HG00544.hp1 HG00597.hp2 HG00738.hp2 HG02145.hp1 HG02300.hp1 HG02647.hp1 HG03486.hp2 HG03491.hp2 HG03654.hp1 HG03654.hp2 NA18957.hp1 NA19005.hp1 NA19079.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0008 a0016 a0018	a0001c0001 a0001c0003 a0001c0011 others(9): Show a0001c0001 a0001c0003 a0001c0011 a0001c0040 a0002c0005 a0002c0007 a0002c0032 a0002c0056 a0004c0048 a0008c0018 a0016c0065 a0018c0043	a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 others(10): Show a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0011t0054 a0001c0040t0003 a0002c0005t0003 a0002c0007t0002 a0002c0032t0008 a0002c0056t0002 a0004c0048t0003 a0008c0018t0013 a0016c0065t0018 a0018c0043t0033	a0001c0001t0004g0104 a0001c0001t0005g0008 a0001c0003t0001g0010 others(10): Show a0001c0001t0004g0104 a0001c0001t0005g0008 a0001c0003t0001g0010 a0001c0011t0054g0139 a0001c0040t0003g0052 a0002c0005t0003g0135 a0002c0007t0002g0013 a0002c0032t0008g0173 a0002c0056t0002g0049 a0004c0048t0003g0097 a0008c0018t0013g0133 a0016c0065t0018g0177 a0018c0043t0033g0138	13	33	0.3939	18	c.190 others(37): Show c.190+53583_190+53600dupTTTTTTTTTTTTTTTTTT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7B_chr2_136760545_137682718	136765490	C C	CTCCTCCT others(11): Show CTCCTCCTCCTCCTTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03195.hp2 HG04199.hp1 others(2): Show HG02258.hp1 HG03195.hp2 HG04199.hp1 NA19030.hp2 NA19043.hp1	a0001 a0005 a0014 a0001 a0005 a0014	a0001c0005 a0001c0012 a0005c0009 others(1): Show a0001c0005 a0001c0012 a0005c0009 a0014c0038	a0001c0005t0001 a0001c0012t0004 a0005c0009t0001 others(2): Show a0001c0005t0001 a0001c0012t0004 a0005c0009t0001 a0005c0009t0007 a0014c0038t0007	a0001c0005t0001g0021 a0001c0012t0004g0011 a0005c0009t0001g0009 others(2): Show a0001c0005t0001g0021 a0001c0012t0004g0011 a0005c0009t0001g0009 a0005c0009t0007g0008 a0014c0038t0007g0010	5	70	0.0714	18	c.-23 others(27): Show c.-233_-232insTCCTCCTCCTCCTTCTCT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding		54		chr2	TogoVar
THSD7B_chr2_136760545_137682718	136767456	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02056.hp2 HG02717.hp1 others(6): Show HG01255.hp1 HG02056.hp2 HG02717.hp1 HG02965.hp2 HG02976.hp2 HG03540.hp1 HG04199.hp1 NA18961.hp2 NA19000.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0019	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0053 a0002c0003 a0003c0040 a0019c0037	a0001c0001t0003 a0001c0004t0006 a0001c0005t0001 others(6): Show a0001c0001t0003 a0001c0004t0006 a0001c0005t0001 a0001c0005t0002 a0001c0053t0005 a0002c0003t0009 a0002c0003t0017 a0003c0040t0011 a0019c0037t0005	a0001c0001t0003g0081 a0001c0004t0006g0023 a0001c0005t0001g0021 others(6): Show a0001c0001t0003g0081 a0001c0004t0006g0023 a0001c0005t0001g0021 a0001c0005t0002g0022 a0001c0053t0005g0084 a0002c0003t0009g0073 a0002c0003t0017g0080 a0003c0040t0011g0082 a0019c0037t0005g0083	9	43	0.2093	18	c.-36 others(35): Show c.-36+1776_-36+1793dupGTGTGTGTGTGTGTGTGT	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(11): Show CAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19000.hp2 NA18961.hp1 NA19000.hp2	a0002 a0002	a0002c0003 a0002c0016 a0002c0003 a0002c0016	a0002c0003t0006 a0002c0016t0001 a0002c0003t0006 a0002c0016t0001	a0002c0003t0006g0041 a0002c0016t0001g0028 a0002c0003t0006g0041 a0002c0016t0001g0028	2	44	0.0455	18	c.-35 others(37): Show c.-35-37666_-35-37649dupGAGAGAGAGAGAGAGAGA	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(11): Show GAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0011 a0011	a0011c0039 a0011c0039	a0011c0039t0002 a0011c0039t0002	a0011c0039t0002g0004 a0011c0039t0002g0004	1	90	0.0111	18	c.-35 others(37): Show c.-35-37649_-35-37648insGAGAGAGAGAGACAGAGA	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	136954714	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03540.hp2 NA19043.hp1 others(1): Show HG03471.hp1 HG03540.hp2 NA19043.hp1 NA20300.hp2	a0001 a0005 a0022 a0001 a0005 a0022	a0001c0004 a0001c0012 a0005c0009 others(1): Show a0001c0004 a0001c0012 a0005c0009 a0022c0022	a0001c0004t0003 a0001c0012t0011 a0005c0009t0007 others(1): Show a0001c0004t0003 a0001c0012t0011 a0005c0009t0007 a0022c0022t0003	a0001c0004t0003g0090 a0001c0012t0011g0095 a0005c0009t0007g0008 others(1): Show a0001c0004t0003g0090 a0001c0012t0011g0095 a0005c0009t0007g0008 a0022c0022t0003g0097	4	40	0.1000	18	c.139 others(37): Show c.139+72400_139+72417dupAAAAAAAAAAAAAAAAAA	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	136983358	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01167.hp2 others(5): Show HG00735.hp1 HG00738.hp2 HG01167.hp2 HG01169.hp2 HG01515.hp1 HG02109.hp2 HG03669.hp2 NA18990.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0013	a0001c0001 a0002c0020 a0003c0002 others(2): Show a0001c0001 a0002c0020 a0003c0002 a0004c0007 a0013c0015	a0001c0001t0002 a0001c0001t0010 a0002c0020t0004 others(4): Show a0001c0001t0002 a0001c0001t0010 a0002c0020t0004 a0003c0002t0003 a0003c0002t0009 a0004c0007t0008 a0013c0015t0005	a0001c0001t0002g0024 a0001c0001t0010g0087 a0002c0020t0004g0067 others(5): Show a0001c0001t0002g0024 a0001c0001t0010g0087 a0002c0020t0004g0067 a0003c0002t0003g0088 a0003c0002t0009g0089 a0004c0007t0008g0048 a0004c0007t0008g0049 a0013c0015t0005g0098	8	21	0.3810	18	c.140 others(37): Show c.140-73050_140-73049insACACACACACACACACAC	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137325167	T T	TTTTTTGT others(11): Show TTTTTTGTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03195.hp2 HG03225.hp2 HG02622.hp2 HG03195.hp2 HG03225.hp2	a0001 a0001	a0001c0012 a0001c0013 a0001c0021 a0001c0012 a0001c0013 a0001c0021	a0001c0012t0004 a0001c0013t0002 a0001c0021t0004 a0001c0012t0004 a0001c0013t0002 a0001c0021t0004	a0001c0012t0004g0011 a0001c0013t0002g0030 a0001c0021t0004g0071 a0001c0012t0004g0011 a0001c0013t0002g0030 a0001c0021t0004g0071	3	92	0.0326	18	c.250 others(39): Show c.2500+49158_2500+49159insGTTTTTGTTTTTGTTTTT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137389193	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0016 a0001c0019t0016	a0001c0019t0016g0091 a0001c0019t0016g0091	1	16	0.0625	18	c.250 others(39): Show c.2501-16413_2501-16396dupATATATATATATATATAT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137575725	C C	CACACATA others(11): Show CACACATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0028 a0002c0016t0001g0028	1	73	0.0137	18	c.342 others(37): Show c.3423+3170_3423+3171insCACATATATATATATATA	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	17/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137590792	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01169.hp1 HG02965.hp2 others(6): Show HG00738.hp2 HG01169.hp1 HG02965.hp2 HG02976.hp1 HG03540.hp2 HG04199.hp1 NA18993.hp2 NA19057.hp1 NA19084.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0018 a0022	a0001c0005 a0003c0002 a0004c0008 others(3): Show a0001c0005 a0003c0002 a0004c0008 a0004c0055 a0018c0043 a0022c0022	a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 others(6): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0010 a0003c0002t0003 a0004c0008t0001 a0004c0055t0003 a0018c0043t0001 a0022c0022t0003	a0001c0005t0001g0021 a0001c0005t0002g0022 a0001c0005t0003g0077 others(6): Show a0001c0005t0001g0021 a0001c0005t0002g0022 a0001c0005t0003g0077 a0001c0005t0010g0078 a0003c0002t0003g0088 a0004c0008t0001g0040 a0004c0055t0003g0076 a0018c0043t0001g0033 a0022c0022t0003g0097	9	68	0.1324	18	c.342 others(39): Show c.3423+18240_3423+18257dupTTTTTTTTTTTTTTTTTT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	17/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137646650	T T	TTAATAAT others(11): Show TTAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0011 a0001c0012t0011	a0001c0012t0011g0095 a0001c0012t0011g0095	1	60	0.0167	18	c.394 others(37): Show c.3945+4033_3945+4050dupTAATAATAATAATAATAA	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137646681	T T	TAATAATA others(11): Show TAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp2	a0003 a0004 a0003 a0004	a0003c0002 a0004c0007 a0003c0002 a0004c0007	a0003c0002t0015 a0004c0007t0008 a0003c0002t0015 a0004c0007t0008	a0003c0002t0015g0038 a0004c0007t0008g0048 a0004c0007t0008g0049 a0003c0002t0015g0038 a0004c0007t0008g0048 a0004c0007t0008g0049	3	89	0.0337	18	c.394 others(37): Show c.3945+4050_3945+4051insTAATAATAATAATAAAAA	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THUMPD2_chr2_39731061_39784258	39767603	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02886.hp1 others(2): Show HG02622.hp1 HG02630.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0007g0018	5	112	0.0446	18	c.750 others(33): Show c.750+803_750+820dupTTTTTTTTTTTTTTTTTT	THUMPD2	ENSG00000138050.15	transcript	ENST00000505747.6	protein_coding	4/9			chr2	TogoVar
THUMPD2_chr2_39731061_39784258	39783582	C C	CACACACA others(11): Show CACACACACACACACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG03579.hp2 NA19240.hp2 HG02630.hp2 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0168 a0001c0001t0003g0007 a0001c0001t0003g0168	3	324	0.0093	18	c.-43 others(29): Show c.-4344_-4343insATGTGTGTGTGTGTGTGT	THUMPD2	ENSG00000138050.15	transcript	ENST00000505747.6	protein_coding		4325		chr2	TogoVar
THUMPD3_chr3_9358054_9391791	9381756	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	11	0.0909	18	c.112 others(37): Show c.1124+1162_1124+1179dupTTTTTTTTTTTTTTTTTT	THUMPD3	ENSG00000134077.16	transcript	ENST00000452837.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
TIAM1_chr21_31113418_31349261	31206936	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0012 a0003c0005t0012	a0003c0005t0012g0057 a0003c0005t0012g0057	1	166	0.0060	18	c.238 others(37): Show c.2388+3108_2388+3109insGTGTGTGTGTGTGTGTGT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	11/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31210594	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	202	0.0050	18	c.221 others(35): Show c.2218-380_2218-379insTTCTTTCTTTCTTTCTTT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	10/27			chr21	TogoVar

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