Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
TIMP2_chr17_78847977_78930387	78924758	A A	AGGGAAAG others(19): Show AGGGAAAGAAAGGGAGAGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0003	1	314	0.0032	26	c.130 others(41): Show c.130+175_130+200dupCCCTCCCTCCTCTCCCTTTCTTTCCC	TIMP2	ENSG00000035862.13	transcript	ENST00000262768.11	protein_coding	1/4			chr17	TogoVar
TINAGL1_chr1_31571515_31592686	31580199	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	311	0.0032	26	c.374 others(41): Show c.374+945_374+946insCTCTCTCTCTCTGTCTCTCTCTCTCT	TINAGL1	ENSG00000142910.16	transcript	ENST00000271064.12	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
TIPIN_chr15_66331191_66361685	66342186	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0050 a0001c0006t0001g0050	1	15	0.0667	26	c.476 others(41): Show c.476-831_476-830insTTTTTTTTTTTTTTTTTTTTTTTTTT	TIPIN	ENSG00000075131.10	transcript	ENST00000261881.9	protein_coding	6/7			chr15	TogoVar
TIRAP_chr11_126278093_126299933	126285243	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03486.hp2 HG01358.hp1 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0010 a0001c0001t0001 a0004c0006t0010	a0001c0001t0001g0086 a0004c0006t0010g0147 a0001c0001t0001g0086 a0004c0006t0010g0147	2	59	0.0339	26	c.-21 others(45): Show c.-217+2091_-217+2092insGTGTGTATATATATATATATATATAT	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(19): Show GTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01257.hp1 HG02523.hp1 others(10): Show HG00733.hp2 HG01257.hp1 HG02523.hp1 HG03491.hp2 HG03492.hp2 HG03831.hp1 HG03834.hp2 NA18943.hp1 NA18960.hp1 NA18978.hp2 NA19060.hp2 NA19082.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0093 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0007g0005	13	70	0.1857	26	c.-21 others(45): Show c.-217+2091_-217+2092insGTGTGTGTATATATATATATATATAT	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(19): Show GTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01261.hp1 HG00544.hp2 HG01261.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0009 a0001c0001t0001 a0003c0004t0009	a0001c0001t0001g0080 a0003c0004t0009g0128 a0001c0001t0001g0080 a0003c0004t0009g0128	2	59	0.0339	26	c.-21 others(45): Show c.-217+2091_-217+2092insGTGTGTGTGTATATATATATATATAT	TIRAP	ENSG00000150455.15	transcript	ENST00000392679.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TJP2_chr9_69169277_69260208	69197652	G G	GTACTGAG others(19): Show GTACTGAGCAATGCTCTCCAGAAGCAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0177 a0005c0008t0002g0177	1	354	0.0028	26	c.61- others(43): Show c.61-14891_61-14866dupGAGCAATGCTCTCCAGAAGCATTACT	TJP2	ENSG00000119139.21	transcript	ENST00000377245.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr9	TogoVar
TK2_chr16_66503003_66555122	66505192	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	268	0.0037	26	c.67 others(37): Show c.6775_*6776insTATATATATATATATATATATATATA	TK2	ENSG00000166548.17	transcript	ENST00000544898.6	protein_coding		2810		chr16	TogoVar
TLCD4_chr1_95112355_95202607	95162312	T T	TAGGATTG others(19): Show TAGGATTGCAACCCCTGCTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0268 a0001c0001t0017g0268	1	376	0.0027	26	c.399 others(45): Show c.399+10894_399+10919dupAGGATTGCAACCCCTGCTTTTTTTTG	TLCD4	ENSG00000152078.10	transcript	ENST00000370203.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
TLE1_chr9_81578683_81694547	81587910	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTCATCCCGCC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02258.hp1 HG02486.hp1 others(10): Show HG01258.hp2 HG02258.hp1 HG02486.hp1 HG02717.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18965.hp2 NA19240.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0002t0001 a0001c0007t0001 a0001c0012t0001	a0001c0001t0001g0030 a0001c0001t0001g0055 a0001c0001t0001g0091 others(10): Show a0001c0001t0001g0030 a0001c0001t0001g0055 a0001c0001t0001g0091 a0001c0001t0001g0224 a0001c0001t0002g0248 a0001c0001t0003g0326 a0001c0001t0003g0346 a0001c0001t0018g0284 a0001c0002t0001g0070 a0001c0002t0001g0082 a0001c0007t0001g0190 a0001c0007t0001g0193 a0001c0012t0001g0230	13	351	0.0370	26	c.183 others(41): Show c.1830-83_1830-82insGGCGGGATGACACACACACACACACA	TLE1	ENSG00000196781.16	transcript	ENST00000376499.8	protein_coding	16/19			chr9	TogoVar
TLE1_chr9_81578683_81694547	81587912	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTCATCCCGCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19009.hp1 HG04204.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0171 a0001c0001t0005g0014 a0001c0001t0001g0171 a0001c0001t0005g0014	2	353	0.0057	26	c.183 others(41): Show c.1830-85_1830-84insGGCGGGATGACACACACACACACACA	TLE1	ENSG00000196781.16	transcript	ENST00000376499.8	protein_coding	16/19			chr9	TogoVar
TLK1_chr2_170985823_171165893	170986507	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0229 a0001c0003t0003g0229	1	171	0.0058	26	c.72 others(37): Show c.7272_*7273insATATATATATATATATATATATATAT	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding		4315		chr2	TogoVar
TLK1_chr2_170985823_171165893	170986509	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0244 a0001c0003t0003g0244	1	105	0.0095	26	c.72 others(37): Show c.7270_*7271insATATATATATATATATATATATATAT	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding		4313		chr2	TogoVar
TLK1_chr2_170985823_171165893	171022092	C C	CACACACA others(19): Show CACACACACAGACACACACACACACAG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	259	0.0039	26	c.123 others(45): Show c.1236+6246_1236+6247insCTGTGTGTGTGTGTGTCTGTGTGTGT	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding	12/20			chr2	TogoVar
TLK1_chr2_170985823_171165893	171103264	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02280.hp1 NA19240.hp2 others(1): Show HG01081.hp2 HG02280.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0026 a0001c0001t0004 a0001c0001t0010 a0001c0001t0026	a0001c0001t0004g0074 a0001c0001t0004g0112 a0001c0001t0010g0106 others(1): Show a0001c0001t0004g0074 a0001c0001t0004g0112 a0001c0001t0010g0106 a0001c0001t0026g0264	4	200	0.0200	26	c.258 others(45): Show c.258+14474_258+14475insTATATATATATATATATATATATATA	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding	2/20			chr2	TogoVar
TLK1_chr2_170985823_171165893	171103264	T T	TTATTTAT others(19): Show TTATTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0102	1	197	0.0051	26	c.258 others(45): Show c.258+14474_258+14475insTATATATATATATATATATATAAATA	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding	2/20			chr2	TogoVar
TLL1_chr4_165868237_166109457	166052965	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03516.hp2 NA18991.hp1 HG03490.hp2 HG03516.hp2 NA18991.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0007 a0003c0004t0018 a0001c0001t0007 a0003c0004t0018	a0001c0001t0007g0132 a0001c0001t0007g0205 a0003c0004t0018g0030 a0001c0001t0007g0132 a0001c0001t0007g0205 a0003c0004t0018g0030	3	73	0.0411	26	c.152 others(45): Show c.1525-2110_1525-2109insGTATATATATATATATATATATATAT	TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TLL2_chr10_96359608_96518926	96361976	G G	GTACAGGT others(19): Show GTACAGGTACAATACATTACAATACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	91	0.0110	26	c.61 others(37): Show c.6111_*6112insTTGTATTGTAATGTATTGTACCTGTA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding		2631		chr10	TogoVar
TLL2_chr10_96359608_96518926	96459705	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0118 a0001c0005t0002g0118	1	130	0.0077	26	c.287 others(45): Show c.287-13563_287-13538dupATATATATATATATATATATATATAT	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96476240	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	60	0.0167	26	c.286 others(43): Show c.286+4108_286+4109insAAAAAAAATATATATATATATATATA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96476240	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0245 a0001c0001t0038g0245	1	60	0.0167	26	c.286 others(43): Show c.286+4108_286+4109insAAAAAAAAAATATATATATATATATA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96476240	A A	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0256 a0001c0002t0043g0256	1	60	0.0167	26	c.286 others(43): Show c.286+4108_286+4109insAAAAAAAAAAAATATATATATATATA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96476240	A A	ATATATAT others(19): Show ATATATATATATATTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03225.hp1 HG01884.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0017 a0001c0003t0003 a0001c0003t0017	a0001c0003t0003g0232 a0001c0003t0017g0243 a0001c0003t0003g0232 a0001c0003t0017g0243	2	61	0.0328	26	c.286 others(43): Show c.286+4108_286+4109insAAAAAAAAAAAGAATATATATATATA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TLN1_chr9_35691948_35737195	35729949	G G	GGAAGACA others(19): Show GGAAGACAGGGTGTAGAAAAAGGATGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	369	0.0027	26	c.-34 others(43): Show c.-34+2100_-34+2125dupTCATCCTTTTTCTACACCCTGTCTTC	TLN1	ENSG00000137076.22	transcript	ENST00000314888.10	protein_coding	1/56			chr9	TogoVar
TLN1_chr9_35691948_35737195	35729957	G G	GGGTGTAG others(19): Show GGGTGTAGAAAAAGGATGAGAAGACAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00597.hp2 others(62): Show HG00140.hp2 HG00438.hp1 HG00597.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01123.hp1 HG01192.hp1 HG01255.hp2 HG01358.hp1 HG01361.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02083.hp2 HG02135.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02738.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18969.hp1 NA18971.hp2 NA18993.hp1 NA19011.hp1 NA19057.hp2 NA19083.hp1 NA19088.hp2 NA20300.hp1 NA20300.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0007 a0006c0012 others(1): Show a0001c0001 a0001c0007 a0006c0012 a0007c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0007t0001 a0006c0012t0001 a0007c0013t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 others(43): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0118 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0005g0050 a0001c0001t0008g0166 a0001c0001t0010g0225 a0001c0007t0001g0114 a0001c0007t0001g0171 a0001c0007t0001g0210 a0006c0012t0001g0160 a0007c0013t0001g0162	65	370	0.1757	26	c.-34 others(43): Show c.-34+2117_-34+2118insATGTCTTCTCATCCTTTTTCTACACC	TLN1	ENSG00000137076.22	transcript	ENST00000314888.10	protein_coding	1/56			chr9	TogoVar
TLN2_chr15_62385550_62849631	62741746	C C	CACGCGCG others(19): Show CACGCGCGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0003 a0002c0012t0003	a0002c0012t0003g0048 a0002c0012t0003g0048	1	142	0.0070	26	c.402 others(43): Show c.4025+977_4025+978insACGCGCGTGTGTGTGTGTGTGTGTGT	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	32/58			chr15	TogoVar
TLN2_chr15_62385550_62849631	62741748	C C	CGCGCGCG others(19): Show CGCGCGCGCGCGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02809.hp1 HG01123.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0002t0004 a0001c0001t0033 a0001c0002t0004	a0001c0001t0033g0047 a0001c0002t0004g0087 a0001c0001t0033g0047 a0001c0002t0004g0087	2	8	0.2500	26	c.402 others(43): Show c.4025+980_4025+981insCGCGCGCGCGTGTGTGTGTGTGTGTG	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	32/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLN2_chr15_62385550_62849631	62741748	C C	CGCGCGCG others(19): Show CGCGCGCGCGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG06807.hp1 HG02630.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0031 a0001c0002 a0001c0031	a0001c0002t0010 a0001c0031t0022 a0001c0002t0010 a0001c0031t0022	a0001c0002t0010g0001 a0001c0031t0022g0115 a0001c0002t0010g0001 a0001c0031t0022g0115	2	8	0.2500	26	c.402 others(43): Show c.4025+980_4025+981insCGCGCGCGTGTGTGTGTGTGTGTGTG	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	32/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLN2_chr15_62385550_62849631	62741748	C C	CGCGCGCG others(19): Show CGCGCGCGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03491.hp2 NA19000.hp2 HG03209.hp2 HG03491.hp2 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0051 a0001c0001 a0001c0007 a0002c0051	a0001c0001t0008 a0001c0007t0012 a0002c0051t0001 a0001c0001t0008 a0001c0007t0012 a0002c0051t0001	a0001c0001t0008g0032 a0001c0007t0012g0054 a0002c0051t0001g0106 a0001c0001t0008g0032 a0001c0007t0012g0054 a0002c0051t0001g0106	3	9	0.3333	26	c.402 others(43): Show c.4025+980_4025+981insCGCGCGTGTGTGTGTGTGTGTGTGTG	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	32/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLN2_chr15_62385550_62849631	62741748	C C	CGCGCGTG others(19): Show CGCGCGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02056.hp2 HG02155.hp2 others(11): Show HG00621.hp1 HG02056.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02738.hp2 HG02897.hp2 HG03017.hp2 HG03041.hp1 HG03453.hp2 HG03516.hp2 NA18960.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0011 a0001c0013 a0001c0024 a0001c0048 a0001c0066 a0002c0050 a0006c0055	a0001c0001t0001 a0001c0003t0001 a0001c0004t0002 others(10): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0002 a0001c0006t0002 a0001c0006t0005 a0001c0006t0011 a0001c0011t0001 a0001c0013t0009 a0001c0024t0001 a0001c0048t0004 a0001c0066t0002 a0002c0050t0008 a0006c0055t0001	a0001c0001t0001g0139 a0001c0003t0001g0064 a0001c0003t0001g0122 others(11): Show a0001c0001t0001g0139 a0001c0003t0001g0064 a0001c0003t0001g0122 a0001c0004t0002g0123 a0001c0006t0002g0060 a0001c0006t0005g0089 a0001c0006t0011g0128 a0001c0011t0001g0065 a0001c0013t0009g0023 a0001c0024t0001g0135 a0001c0048t0004g0075 a0001c0066t0002g0018 a0002c0050t0008g0020 a0006c0055t0001g0129	14	20	0.7000	26	c.402 others(43): Show c.4025+980_4025+981insCGCGTGTGTGTGTGTGTGTGTGTGTG	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	32/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLN2_chr15_62385550_62849631	62741748	C C	CGCGTGTG others(19): Show CGCGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	7	0.1429	26	c.402 others(43): Show c.4025+980_4025+981insCGTGTGTGTGTGTGTGTGTGTGTGTG	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	32/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLR10_chr4_38767238_38787990	38770687	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01928.hp1 HG01952.hp1 others(12): Show HG01346.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02148.hp1 HG03710.hp2 NA18942.hp2 NA18978.hp2 NA18995.hp1 NA19009.hp1 NA19076.hp1 NA19086.hp1 NA20129.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0004 a0004c0004t0003 a0003c0003t0004 a0004c0004t0003	a0003c0003t0004g0006 a0004c0004t0003g0003 a0004c0004t0003g0102 others(1): Show a0003c0003t0004g0006 a0004c0004t0003g0003 a0004c0004t0003g0102 a0004c0004t0003g0105	15	233	0.0644	26	c.24 others(37): Show c.2467_*2468insATATATATATATATATATATATATAT	TLR10	ENSG00000174123.11	transcript	ENST00000308973.9	protein_coding		1550		chr4	TogoVar
TLR10_chr4_38767238_38787990	38770687	C C	CCTATATA others(19): Show CCTATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	219	0.0046	26	c.24 others(37): Show c.2467_*2468insATATATATATATATATATATATATAG	TLR10	ENSG00000174123.11	transcript	ENST00000308973.9	protein_coding		1550		chr4	TogoVar
TLR10_chr4_38767238_38787990	38771124	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18970.hp1 NA18963.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0019 a0002c0002t0002g0002 a0002c0002t0002g0019	2	202	0.0099	26	c.20 others(37): Show c.2030_*2031insATATATATATATATATATATATATAT	TLR10	ENSG00000174123.11	transcript	ENST00000308973.9	protein_coding		1113		chr4	TogoVar
TLR1_chr4_38791255_38809791	38792853	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01192.hp2 HG01261.hp1 others(18): Show HG00673.hp2 HG01192.hp2 HG01261.hp1 HG02523.hp2 HG02615.hp2 HG02735.hp2 HG02965.hp2 NA18940.hp1 NA18946.hp1 NA18950.hp1 NA18952.hp2 NA18968.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18990.hp2 NA19005.hp1 NA19070.hp2 NA19081.hp2 NA19089.hp1 NA19089.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0007	a0001c0001 a0001c0004 a0001c0008 others(3): Show a0001c0001 a0001c0004 a0001c0008 a0004c0005 a0006c0015 a0007c0007	a0001c0001t0002 a0001c0004t0002 a0001c0008t0005 others(3): Show a0001c0001t0002 a0001c0004t0002 a0001c0008t0005 a0004c0005t0003 a0006c0015t0004 a0007c0007t0001	a0001c0001t0002g0002 a0001c0004t0002g0005 a0001c0008t0005g0010 others(3): Show a0001c0001t0002g0002 a0001c0004t0002g0005 a0001c0008t0005g0010 a0004c0005t0003g0006 a0006c0015t0004g0028 a0007c0007t0001g0020	21	242	0.0868	26	c.36 others(37): Show c.3617_*3618insTATATATATATATATATATATATATA	TLR1	ENSG00000174125.8	transcript	ENST00000308979.7	protein_coding		3401		chr4	TogoVar
TLR1_chr4_38791255_38809791	38792853	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0014 a0005c0006t0001g0014	1	222	0.0045	26	c.36 others(37): Show c.3617_*3618insTATATATATATATATATATATATAAA	TLR1	ENSG00000174125.8	transcript	ENST00000308979.7	protein_coding		3401		chr4	TogoVar
TLR3_chr4_186064156_186093073	186066892	A A	ATCACTTG others(19): Show ATCACTTGACAAACCAGCAAGTTACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0059 a0002c0003t0001g0059	1	448	0.0022	26	c.-23 others(37): Show c.-2364_-2363insTCACTTGACAAACCAGCAAGTTACAG	TLR3	ENSG00000164342.14	transcript	ENST00000296795.8	protein_coding		2263		chr4	TogoVar
TLR4_chr9_117699403_117729735	117724889	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA19030.hp1 HG02155.hp2 NA19030.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0012 a0001c0001 a0009c0012	a0001c0001t0007 a0009c0012t0007 a0001c0001t0007 a0009c0012t0007	a0001c0001t0007g0059 a0009c0012t0007g0007 a0001c0001t0007g0059 a0009c0012t0007g0007	2	91	0.0220	26	c.10 others(39): Show c.10241_*10242insACACACACACACACACACACACACAC	TLR4	ENSG00000136869.16	transcript	ENST00000355622.8	protein_coding		155		chr9	TogoVar
TLR5_chr1_223104404_223148248	223141822	T T	TATATAGA others(19): Show TATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0008 a0005c0007t0008	a0005c0007t0008g0057 a0005c0007t0008g0057	1	256	0.0039	26	c.-55 others(41): Show c.-554-60_-554-59insCTCTCTCTCTCTCTCTCTCTCTATAT	TLR5	ENSG00000187554.14	transcript	ENST00000642603.2	protein_coding	1/5			chr1	TogoVar
TM4SF19_chr3_196318547_196343388	196341767	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01978.hp2 HG02132.hp2 others(3): Show HG00621.hp2 HG01978.hp2 HG02132.hp2 HG03834.hp1 NA19009.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0198 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0209	6	38	0.1579	26	c.-35 others(37): Show c.-3506_-3505insAAAAAAAAAAAAAAAAAAAAAAAAAA	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding		3380		chr3	TogoVar
TM4SF20_chr2_227357038_227384306	227368331	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03098.hp2 HG01243.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0223 a0001c0001t0003g0257 a0001c0001t0003g0223 a0001c0001t0003g0257	2	416	0.0048	26	c.250 others(43): Show c.250-2088_250-2087insTATATATATATATATATATATATATA	TM4SF20	ENSG00000168955.4	transcript	ENST00000304568.4	protein_coding	2/3			chr2	TogoVar
TM6SF2_chr19_19259366_19278301	19270852	A A	AGGTTCCC others(19): Show AGGTTCCCCAGTTTAATGGGAGTGTTC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0005 a0008c0012t0005	a0008c0012t0005g0203 a0008c0012t0005g0203	1	394	0.0025	26	c.199 others(41): Show c.199+144_199+169dupGAACACTCCCATTAAACTGGGGAACC	TM6SF2	ENSG00000213996.13	transcript	ENST00000389363.5	protein_coding	2/9			chr19	TogoVar
TM9SF4_chr20_32104714_32172256	32123190	A A	AGAGGGGG others(19): Show AGAGGGGGAGGGGGGAGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	262	0.0038	26	c.16- others(41): Show c.16-9813_16-9788dupGGGGGAGGGGGAGGGGGGAGGGGGAG	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32123866	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	51	0.0196	26	c.16- others(41): Show c.16-9146_16-9145insATATATATATATATATTTTTTTTTTT	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMBIM4_chr12_66130846_66174996	66155335	T T	TGAGAGAG others(19): Show TGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02083.hp2 HG02145.hp1 others(23): Show HG00597.hp2 HG02083.hp2 HG02145.hp1 HG02300.hp2 HG02809.hp2 HG03017.hp2 HG03098.hp2 HG03927.hp1 NA18940.hp1 NA18947.hp2 NA18960.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp2 NA18975.hp1 NA18984.hp2 NA18990.hp2 NA18992.hp2 NA19004.hp1 NA19007.hp1 NA19043.hp1 NA19060.hp1 NA19068.hp2 NA19075.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0019 others(15): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0192	26	150	0.1733	26	c.98- others(41): Show c.98-1888_98-1887insTCTCTCTCTCTCTCTCTCTCTCTCTC	TMBIM4	ENSG00000155957.19	transcript	ENST00000358230.8	protein_coding	1/6			chr12	TogoVar
TMBIM4_chr12_66130846_66174996	66155359	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	348	0.0029	26	c.98- others(41): Show c.98-1912_98-1911insCCTCTCTCTCTCTCTCTCTCTCTCTC	TMBIM4	ENSG00000155957.19	transcript	ENST00000358230.8	protein_coding	1/6			chr12	TogoVar
TMC2_chr20_2531573_2648580	2588691	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03098.hp2 HG01243.hp2 HG03098.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0007 a0001c0010t0002 a0001c0010t0007	a0001c0010t0002g0171 a0001c0010t0007g0274 a0001c0010t0002g0171 a0001c0010t0007g0274	2	111	0.0180	26	c.835 others(43): Show c.835-3613_835-3588dupGTGTGTGTGTGTGTGTGTGTGTGTGT	TMC2	ENSG00000149488.14	transcript	ENST00000358864.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMC2_chr20_2531573_2648580	2589270	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03098.hp1 NA18942.hp1 HG02717.hp1 HG03098.hp1 NA18942.hp1	a0001 a0001	a0001c0013 a0001c0018 a0001c0037 a0001c0013 a0001c0018 a0001c0037	a0001c0013t0004 a0001c0018t0003 a0001c0037t0010 a0001c0013t0004 a0001c0018t0003 a0001c0037t0010	a0001c0013t0004g0271 a0001c0018t0003g0295 a0001c0037t0010g0272 a0001c0013t0004g0271 a0001c0018t0003g0295 a0001c0037t0010g0272	3	18	0.1667	26	c.835 others(43): Show c.835-3011_835-2986dupTGTGTGTGTGTGTGTGTGTGTGTGTG	TMC2	ENSG00000149488.14	transcript	ENST00000358864.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMC5_chr16_19412883_19504113	19490926	T T	TCCCTTCC others(19): Show TCCCTTCCCCTCCCTTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02559.hp2 others(6): Show HG02109.hp2 HG02258.hp2 HG02559.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp2 HG02970.hp1 HG03516.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0024 a0001c0001t0008 a0001c0001t0024	a0001c0001t0008g0001 a0001c0001t0008g0096 a0001c0001t0008g0139 others(6): Show a0001c0001t0008g0001 a0001c0001t0008g0096 a0001c0001t0008g0139 a0001c0001t0008g0141 a0001c0001t0008g0212 a0001c0001t0008g0213 a0001c0001t0008g0214 a0001c0001t0008g0284 a0001c0001t0024g0137	9	332	0.0271	26	c.274 others(43): Show c.2747+380_2747+381insCTTCCCCTTCCCCTCCCTTCCCTTCC	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC5_chr16_19412883_19504113	19490926	T T	TCCCTTCC others(19): Show TCCCTTCCCCTTCCTTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA21309.hp2 HG02280.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0138 a0001c0001t0008g0143 a0001c0001t0008g0138 a0001c0001t0008g0143	2	325	0.0062	26	c.274 others(43): Show c.2747+368_2747+369insTCCTTCCCTTCCCTTCCCCTTCCCCT	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr16	TogoVar

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