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
TRPV4_chr12_109778089_109838398	109780540	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG01071.hp1 others(20): Show HG00280.hp2 HG00544.hp1 HG01071.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01346.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp2 HG02280.hp1 HG02451.hp2 HG02818.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03710.hp1 NA18906.hp2 NA19002.hp1 NA19054.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0009 a0001c0002 a0001c0004 a0001c0009	a0001c0002t0001 a0001c0004t0001 a0001c0009t0001 a0001c0002t0001 a0001c0004t0001 a0001c0009t0001	a0001c0002t0001g0001 a0001c0002t0001g0026 a0001c0002t0001g0106 others(16): Show a0001c0002t0001g0001 a0001c0002t0001g0026 a0001c0002t0001g0106 a0001c0002t0001g0136 a0001c0002t0001g0152 a0001c0002t0001g0161 a0001c0002t0001g0170 a0001c0002t0001g0177 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0209 a0001c0004t0001g0003 a0001c0004t0001g0040 a0001c0004t0001g0043 a0001c0004t0001g0044 a0001c0004t0001g0068 a0001c0009t0001g0046	23	52	0.4423	11	c.30 others(22): Show c.3080_*3081insAAAAAAAAAAA	TRPV4	ENSG00000111199.12	transcript	ENST00000261740.7	protein_coding		2548		chr12	TogoVar
TRPV4_chr12_109778089_109838398	109820514	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02074.hp1 HG02129.hp2 others(7): Show HG00733.hp1 HG02074.hp1 HG02129.hp2 HG02155.hp2 HG02523.hp1 HG02523.hp2 HG03669.hp1 NA18943.hp1 NA18963.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0130 a0001c0001t0001g0234 a0001c0001t0001g0235 others(7): Show a0001c0001t0001g0130 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0002t0001g0236	10	248	0.0403	11	c.-31 others(28): Show c.-31-5688_-31-5687insAAAAAAAAAAA	TRPV4	ENSG00000111199.12	transcript	ENST00000261740.7	protein_coding	1/15			chr12	TogoVar
TRPV4_chr12_109778089_109838398	109820516	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0003 a0001c0022t0003	a0001c0022t0003g0038 a0001c0022t0003g0038	1	141	0.0071	11	c.-31 others(28): Show c.-31-5700_-31-5690dupAAAAAAAAAAA	TRPV4	ENSG00000111199.12	transcript	ENST00000261740.7	protein_coding	1/15			chr12	TogoVar
TRRAP_chr7_98873532_99018241	98997483	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18978.hp2 NA19000.hp1 NA18966.hp1 NA18978.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0031 a0001c0001 a0001c0031	a0001c0001t0002 a0001c0031t0002 a0001c0001t0002 a0001c0031t0002	a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0031t0002g0226 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0031t0002g0226	3	64	0.0469	11	c.103 others(32): Show c.10309+2654_10309+2664dupAAAAAAAAAAA	TRRAP	ENSG00000196367.15	transcript	ENST00000456197.2	protein_coding	67/72		INFO_REALIGN_3_PRIME	chr7	TogoVar
TRRAP_chr7_98873532_99018241	99017881	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(6): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG02148.hp1 HG02572.hp1 HG02809.hp1 NA19056.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0028	a0001c0001t0002 a0001c0001t0003 a0001c0002t0012 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0012 a0001c0003t0002 a0001c0028t0002	a0001c0001t0002g0221 a0001c0001t0002g0230 a0001c0001t0002g0231 others(6): Show a0001c0001t0002g0221 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0003g0028 a0001c0002t0012g0194 a0001c0003t0002g0199 a0001c0028t0002g0207	9	93	0.0968	11	c.55 others(22): Show c.5526_*5527insTTTTTTTTTTT	TRRAP	ENSG00000196367.15	transcript	ENST00000456197.2	protein_coding		4641		chr7	TogoVar
TRUB1_chr10_114933195_114982676	114980578	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG03486.hp2 others(2): Show HG01891.hp1 HG02622.hp2 HG03486.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013	a0001c0001t0004g0093 a0001c0001t0006g0042 a0001c0001t0007g0071 others(2): Show a0001c0001t0004g0093 a0001c0001t0006g0042 a0001c0001t0007g0071 a0001c0001t0007g0073 a0001c0001t0013g0153	5	105	0.0476	11	c.51 others(22): Show c.5199_*5200insTTTTTTTTTTT	TRUB1	ENSG00000165832.6	transcript	ENST00000298746.5	protein_coding		2903		chr10	TogoVar
TRUB1_chr10_114933195_114982676	114982533	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG03486.hp2 HG02895.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0017 a0001c0001t0006g0042 a0001c0001t0006g0017 a0001c0001t0006g0042	2	89	0.0225	11	c.71 others(22): Show c.7154_*7155insTTTTTTTTTTT	TRUB1	ENSG00000165832.6	transcript	ENST00000298746.5	protein_coding		4858		chr10	TogoVar
TSBP1_chr6_32287698_32376903	32296241	C C	CAATTATC others(4): Show CAATTATCAATT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG00642.hp1 others(23): Show HG00558.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG01081.hp1 HG01109.hp1 HG01255.hp2 HG01891.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02818.hp2 HG02922.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03831.hp1 NA18906.hp1 NA18964.hp1 NA19030.hp2 NA20300.hp1	a0007 a0009 a0007 a0009	a0007c0007 a0009c0009 a0007c0007 a0009c0009	a0007c0007t0001 a0007c0007t0004 a0009c0009t0001 others(1): Show a0007c0007t0001 a0007c0007t0004 a0009c0009t0001 a0009c0009t0003	a0007c0007t0001g0012 a0007c0007t0001g0013 a0007c0007t0001g0136 others(21): Show a0007c0007t0001g0012 a0007c0007t0001g0013 a0007c0007t0001g0136 a0007c0007t0001g0137 a0007c0007t0001g0138 a0007c0007t0001g0139 a0007c0007t0001g0140 a0007c0007t0001g0141 a0007c0007t0001g0142 a0007c0007t0001g0143 a0007c0007t0001g0144 a0007c0007t0001g0145 a0007c0007t0001g0146 a0007c0007t0001g0147 a0007c0007t0001g0148 a0007c0007t0001g0159 a0007c0007t0004g0264 a0007c0007t0004g0265 a0009c0009t0001g0069 a0009c0009t0001g0162 a0009c0009t0001g0163 a0009c0009t0003g0321 a0009c0009t0003g0322 a0009c0009t0003g0323	26	420	0.0619	11	c.632 others(28): Show c.632-2207_632-2206insAATTGATAATT	TSBP1	ENSG00000204296.13	transcript	ENST00000533191.6	protein_coding	25/25			chr6	TogoVar
TSBP1_chr6_32287698_32376903	32310761	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02135.hp1 HG02083.hp2 HG02135.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0001 a0003c0003t0003	a0003c0003t0001g0072 a0003c0003t0003g0288 a0003c0003t0001g0072 a0003c0003t0003g0288	2	324	0.0062	11	c.574 others(28): Show c.574+5010_574+5011insAAATATATATA	TSBP1	ENSG00000204296.13	transcript	ENST00000533191.6	protein_coding	22/25			chr6	TogoVar
TSBP1_chr6_32287698_32376903	32310761	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02027.hp2 HG02071.hp1 others(2): Show HG00408.hp1 HG02027.hp2 HG02071.hp1 NA18980.hp1 NA19084.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0001 a0003c0003t0003	a0003c0003t0001g0073 a0003c0003t0003g0287 a0003c0003t0003g0289 others(2): Show a0003c0003t0001g0073 a0003c0003t0003g0287 a0003c0003t0003g0289 a0003c0003t0003g0290 a0003c0003t0003g0291	5	327	0.0153	11	c.574 others(28): Show c.574+5010_574+5011insAAAAATATATA	TSBP1	ENSG00000204296.13	transcript	ENST00000533191.6	protein_coding	22/25			chr6	TogoVar
TSBP1_chr6_32287698_32376903	32310761	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp2 NA18943.hp1 others(7): Show HG00423.hp2 HG00673.hp2 NA18943.hp1 NA18973.hp2 NA18987.hp1 NA19007.hp1 NA19054.hp2 NA19058.hp1 NA19064.hp1 NA19078.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0005 a0003c0003t0001g0006 a0003c0003t0001g0070 others(3): Show a0003c0003t0001g0005 a0003c0003t0001g0006 a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0074 a0003c0003t0001g0076	10	332	0.0301	11	c.574 others(28): Show c.574+5010_574+5011insAAAAAAATATA	TSBP1	ENSG00000204296.13	transcript	ENST00000533191.6	protein_coding	22/25			chr6	TogoVar
TSBP1_chr6_32287698_32376903	32310761	A A	ATATTTTT others(4): Show ATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0075 a0003c0003t0001g0075	1	323	0.0031	11	c.574 others(28): Show c.574+5010_574+5011insAAAAAAAAATA	TSBP1	ENSG00000204296.13	transcript	ENST00000533191.6	protein_coding	22/25			chr6	TogoVar
TSBP1_chr6_32287698_32376903	32330635	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0271 a0005c0005t0004g0271	1	128	0.0078	11	c.446 others(24): Show c.446-27_446-26insGTGTGTGTGTG	TSBP1	ENSG00000204296.13	transcript	ENST00000533191.6	protein_coding	16/25			chr6	TogoVar
TSBP1_chr6_32287698_32376903	32369373	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0003 a0009c0009t0003	a0009c0009t0003g0321 a0009c0009t0003g0322 a0009c0009t0003g0321 a0009c0009t0003g0322	2	33	0.0606	11	c.100 others(26): Show c.100+513_100+523dupAAAAAAAAAAA	TSBP1	ENSG00000204296.13	transcript	ENST00000533191.6	protein_coding	2/25			chr6	TogoVar
TSC1_chr9_132886349_132949616	132913844	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0100 a0002c0009t0100	a0002c0009t0100g0304 a0002c0009t0100g0304	1	333	0.0030	11	c.738 others(28): Show c.738-1388_738-1387insGTTTTTTTTTT	TSC1	ENSG00000165699.15	transcript	ENST00000298552.9	protein_coding	8/22			chr9	TogoVar
TSC22D1_chr13_44427143_44581330	44517857	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	94	0.0106	11	c.291 others(32): Show c.2912+55305_2912+55306insATATATATATA	TSC22D1	ENSG00000102804.16	transcript	ENST00000458659.3	protein_coding	1/2			chr13	TogoVar
TSC22D1_chr13_44427143_44581330	44517857	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	94	0.0106	11	c.291 others(32): Show c.2912+55305_2912+55306insAAATATATATA	TSC22D1	ENSG00000102804.16	transcript	ENST00000458659.3	protein_coding	1/2			chr13	TogoVar
TSC22D1_chr13_44427143_44581330	44517857	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA20129.hp2 HG02738.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0003 a0001c0001t0001 a0003c0004t0003	a0001c0001t0001g0080 a0003c0004t0003g0224 a0001c0001t0001g0080 a0003c0004t0003g0224	2	95	0.0211	11	c.291 others(32): Show c.2912+55305_2912+55306insAAAAAAATATA	TSC22D1	ENSG00000102804.16	transcript	ENST00000458659.3	protein_coding	1/2			chr13	TogoVar
TSC22D1_chr13_44427143_44581330	44517857	A A	ATATTTTT others(4): Show ATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA18960.hp2 HG01070.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0154 a0001c0001t0001g0059 a0001c0001t0001g0154	2	95	0.0211	11	c.291 others(32): Show c.2912+55305_2912+55306insAAAAAAAAATA	TSC22D1	ENSG00000102804.16	transcript	ENST00000458659.3	protein_coding	1/2			chr13	TogoVar
TSC22D1_chr13_44427143_44581330	44517857	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0078 a0001c0001t0014g0078	1	94	0.0106	11	c.291 others(32): Show c.2912+55295_2912+55305dupAAAAAAAAAAA	TSC22D1	ENSG00000102804.16	transcript	ENST00000458659.3	protein_coding	1/2			chr13	TogoVar
TSC22D1_chr13_44427143_44581330	44517858	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	226	0.0044	11	c.291 others(32): Show c.2912+55304_2912+55305insTATATATATAT	TSC22D1	ENSG00000102804.16	transcript	ENST00000458659.3	protein_coding	1/2			chr13	TogoVar
TSC22D2_chr3_150403298_150471422	150431224	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0023 a0001c0006t0023	a0001c0006t0023g0145 a0001c0006t0023g0145	1	239	0.0042	11	c.195 others(32): Show c.1958+19933_1958+19943dupAAAAAAAAAAA	TSC22D2	ENSG00000196428.13	transcript	ENST00000688009.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
TSC22D3_chrX_107708221_107780787	107711418	G G	GAAGATGA others(4): Show GAAGATGAACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0187 a0001c0001t0005g0187	1	214	0.0047	11	c.31 others(22): Show c.3100_*3101insTGGTTCATCTT	TSC22D3	ENSG00000157514.18	transcript	ENST00000372383.9	protein_coding		1802		chrX	TogoVar
TSC22D3_chrX_107708221_107780787	107734878	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02723.hp2 HG02886.hp2 others(3): Show HG02280.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0055 others(3): Show a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0107 a0001c0001t0001g0192 a0001c0001t0001g0194	6	64	0.0938	11	c.321 others(30): Show c.321-18939_321-18929dupTTTTTTTTTTT	TSC22D3	ENSG00000157514.18	transcript	ENST00000372383.9	protein_coding	1/2			chrX	TogoVar
TSEN2_chr3_12479480_12538658	12502690	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01928.hp2 HG01934.hp1 others(16): Show HG01243.hp2 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG02004.hp2 HG02129.hp1 HG02135.hp1 HG02300.hp2 HG02572.hp2 HG02723.hp2 HG03491.hp2 HG03704.hp1 HG04228.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18962.hp2 NA19004.hp2 NA20300.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0002c0006 a0004c0009 a0002c0004 a0002c0006 a0004c0009	a0002c0004t0001 a0002c0004t0007 a0002c0004t0009 others(2): Show a0002c0004t0001 a0002c0004t0007 a0002c0004t0009 a0002c0006t0005 a0004c0009t0009	a0002c0004t0001g0148 a0002c0004t0001g0149 a0002c0004t0001g0150 others(15): Show a0002c0004t0001g0148 a0002c0004t0001g0149 a0002c0004t0001g0150 a0002c0004t0001g0151 a0002c0004t0007g0011 a0002c0004t0007g0035 a0002c0004t0007g0036 a0002c0004t0007g0038 a0002c0004t0007g0040 a0002c0004t0007g0041 a0002c0004t0007g0042 a0002c0004t0009g0037 a0002c0004t0009g0039 a0002c0004t0009g0043 a0002c0006t0005g0231 a0002c0006t0005g0232 a0002c0006t0005g0233 a0004c0009t0009g0044	19	282	0.0674	11	c.309 others(26): Show c.309-562_309-561insGTTTTTTTTTT	TSEN2	ENSG00000154743.19	transcript	ENST00000284995.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
TSEN2_chr3_12479480_12538658	12517357	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0152 a0001c0010t0001g0152	1	92	0.0109	11	c.960 others(26): Show c.960+700_960+710dupAAAAAAAAAAA	TSEN2	ENSG00000154743.19	transcript	ENST00000284995.11	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
TSEN2_chr3_12479480_12538658	12523526	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01516.hp1 HG03688.hp2 HG01123.hp2 HG01516.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0055 a0001c0001t0004g0072 a0001c0001t0005g0098 a0001c0001t0004g0055 a0001c0001t0004g0072 a0001c0001t0005g0098	3	113	0.0265	11	c.109 others(30): Show c.1099+4344_1099+4354dupTTTTTTTTTTT	TSEN2	ENSG00000154743.19	transcript	ENST00000284995.11	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
TSEN54_chr17_75511528_75529735	75520585	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp2 HG00738.hp2 others(27): Show HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01433.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG02109.hp1 HG02145.hp1 HG02559.hp1 HG02622.hp1 HG02809.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03654.hp2 HG03831.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA20752.hp1	a0005 a0008 a0014 a0005 a0008 a0014	a0005c0008 a0005c0011 a0008c0007 others(1): Show a0005c0008 a0005c0011 a0008c0007 a0014c0023	a0005c0008t0001 a0005c0011t0001 a0008c0007t0001 others(1): Show a0005c0008t0001 a0005c0011t0001 a0008c0007t0001 a0014c0023t0001	a0005c0008t0001g0003 a0005c0008t0001g0055 a0005c0011t0001g0003 others(6): Show a0005c0008t0001g0003 a0005c0008t0001g0055 a0005c0011t0001g0003 a0005c0011t0001g0016 a0005c0011t0001g0057 a0008c0007t0001g0003 a0008c0007t0001g0016 a0008c0007t0001g0054 a0014c0023t0001g0076	30	382	0.0785	11	c.522 others(26): Show c.522-814_522-813insAAAAAAAAAAA	TSEN54	ENSG00000182173.14	transcript	ENST00000333213.11	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
TSG101_chr11_18475311_18531942	18499402	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0161	1	27	0.0370	11	c.640 others(28): Show c.640+3083_640+3084insAAATATATATA	TSG101	ENSG00000074319.13	transcript	ENST00000251968.4	protein_coding	7/9			chr11	TogoVar
TSG101_chr11_18475311_18531942	18499402	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18982.hp1 HG02572.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0025 a0001c0002t0001g0141 a0001c0001t0001g0025 a0001c0002t0001g0141	2	28	0.0714	11	c.640 others(28): Show c.640+3083_640+3084insAAAAATATATA	TSG101	ENSG00000074319.13	transcript	ENST00000251968.4	protein_coding	7/9			chr11	TogoVar
TSG101_chr11_18475311_18531942	18499402	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18953.hp2 NA19043.hp1 HG03041.hp2 NA18953.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0156 a0001c0001t0001g0385 a0001c0001t0002g0222 a0001c0001t0001g0156 a0001c0001t0001g0385 a0001c0001t0002g0222	3	29	0.1034	11	c.640 others(28): Show c.640+3083_640+3084insAAAAAAATATA	TSG101	ENSG00000074319.13	transcript	ENST00000251968.4	protein_coding	7/9			chr11	TogoVar
TSG101_chr11_18475311_18531942	18499402	A A	ATATTTTT others(4): Show ATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	27	0.0370	11	c.640 others(28): Show c.640+3083_640+3084insAAAAAAAAATA	TSG101	ENSG00000074319.13	transcript	ENST00000251968.4	protein_coding	7/9			chr11	TogoVar
TSG101_chr11_18475311_18531942	18531192	A A	AGAGACTA others(4): Show AGAGACTAAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	404	0.0025	11	c.-43 others(22): Show c.-4377_-4376insGCTTTAGTCTC	TSG101	ENSG00000074319.13	transcript	ENST00000251968.4	protein_coding		4251		chr11	TogoVar
TSGA10_chr2_98992261_99159942	99074000	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG03516.hp2 HG01258.hp1 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0005 a0001c0004 a0003c0005	a0001c0004t0004 a0003c0005t0002 a0001c0004t0004 a0003c0005t0002	a0001c0004t0004g0003 a0003c0005t0002g0264 a0001c0004t0004g0003 a0003c0005t0002g0264	2	109	0.0183	11	c.883 others(26): Show c.883-938_883-928dupAAAAAAAAAAA	TSGA10	ENSG00000135951.16	transcript	ENST00000393483.8	protein_coding	12/20			chr2	TogoVar
TSGA10_chr2_98992261_99159942	99085609	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG03130.hp1 HG00735.hp1 HG01070.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0278 a0001c0001t0002g0286 a0001c0001t0002g0255 a0001c0001t0002g0278 a0001c0001t0002g0286	3	116	0.0259	11	c.612 others(28): Show c.612-4223_612-4213dupTTTTTTTTTTT	TSGA10	ENSG00000135951.16	transcript	ENST00000393483.8	protein_coding	10/20			chr2	TogoVar
TSGA10_chr2_98992261_99159942	99136798	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	208	0.0048	11	c.-62 others(30): Show c.-620-9633_-620-9623dupTTTTTTTTTTT	TSGA10	ENSG00000135951.16	transcript	ENST00000393483.8	protein_coding	1/20			chr2	TogoVar
TSGA10_chr2_98992261_99159942	99144649	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp1 HG02896.hp2 others(6): Show HG01109.hp1 HG01261.hp1 HG02896.hp2 HG03453.hp1 HG03688.hp2 NA18950.hp2 NA18952.hp2 NA18959.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0032 others(6): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0144	9	115	0.0783	11	c.-62 others(32): Show c.-621+10033_-621+10043dupTTTTTTTTTTT	TSGA10	ENSG00000135951.16	transcript	ENST00000393483.8	protein_coding	1/20			chr2	TogoVar
TSHB_chr1_115024826_115039302	115026279	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	23	0.0435	11	c.-35 others(22): Show c.-3583_-3582insTTTTTTTTTTT	TSHB	ENSG00000134200.4	transcript	ENST00000256592.3	protein_coding		3546		chr1	TogoVar
TSHR_chr14_80950621_81151306	80973403	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01433.hp1 HG01891.hp2 others(10): Show HG01257.hp2 HG01433.hp1 HG01891.hp2 HG02056.hp2 HG02080.hp2 NA18944.hp1 NA18952.hp1 NA18956.hp2 NA18961.hp2 NA18984.hp2 NA18988.hp2 NA19064.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 a0001c0002t0002 a0001c0002t0004 a0002c0003t0003	a0001c0001t0001g0031 a0001c0001t0002g0028 a0001c0001t0002g0029 others(10): Show a0001c0001t0001g0031 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0058 a0001c0001t0004g0183 a0001c0001t0022g0234 a0001c0002t0002g0027 a0001c0002t0002g0030 a0001c0002t0004g0024 a0001c0002t0004g0053 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0032	13	38	0.3421	11	c.170 others(30): Show c.170+17569_170+17579dupAAAAAAAAAAA	TSHR	ENSG00000165409.18	transcript	ENST00000298171.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
TSHR_chr14_80950621_81151306	81072996	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19043.hp1 HG02809.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0013 a0001c0002t0003 a0001c0002t0013	a0001c0002t0003g0059 a0001c0002t0013g0089 a0001c0002t0003g0059 a0001c0002t0013g0089	2	202	0.0099	11	c.317 others(28): Show c.317+4673_317+4683dupAAAAAAAAAAA	TSHR	ENSG00000165409.18	transcript	ENST00000298171.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
TSHR_chr14_80950621_81151306	81073017	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03195.hp1 NA19240.hp1 HG02257.hp1 HG03195.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0085 a0002c0003t0003g0094 a0002c0003t0003g0269 a0002c0003t0003g0085 a0002c0003t0003g0094 a0002c0003t0003g0269	3	261	0.0115	11	c.317 others(28): Show c.317+4690_317+4691insAAAAAAAAATA	TSHR	ENSG00000165409.18	transcript	ENST00000298171.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
TSHR_chr14_80950621_81151306	81073017	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0247 a0001c0002t0003g0247	1	259	0.0039	11	c.317 others(28): Show c.317+4690_317+4691insAAAAAAATATA	TSHR	ENSG00000165409.18	transcript	ENST00000298171.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
TSHR_chr14_80950621_81151306	81073021	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0107 a0002c0003t0003g0107	1	195	0.0051	11	c.317 others(28): Show c.317+4694_317+4695insAAAAAAAAATA	TSHR	ENSG00000165409.18	transcript	ENST00000298171.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
TSHR_chr14_80950621_81151306	81094679	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02818.hp1 HG02145.hp2 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0122 a0001c0002t0005g0079 a0001c0002t0001g0122 a0001c0002t0005g0079	2	3	0.6667	11	c.546 others(28): Show c.546-1946_546-1936dupTTTTTTTTTTT	TSHR	ENSG00000165409.18	transcript	ENST00000298171.7	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
TSHZ2_chr20_52967358_53500330	53133969	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp1 HG02451.hp2 others(5): Show HG00741.hp1 HG01891.hp1 HG02451.hp2 HG02622.hp2 HG02970.hp2 HG02976.hp2 HG03453.hp2 HG03471.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0006 a0001c0001 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0010 a0001c0001t0016 others(5): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0016 a0001c0001t0019 a0001c0001t0075 a0002c0003t0005 a0002c0003t0048 a0003c0006t0015	a0001c0001t0001g0093 a0001c0001t0010g0151 a0001c0001t0016g0010 others(5): Show a0001c0001t0001g0093 a0001c0001t0010g0151 a0001c0001t0016g0010 a0001c0001t0019g0147 a0001c0001t0075g0068 a0002c0003t0005g0014 a0002c0003t0048g0002 a0003c0006t0015g0008	8	52	0.1538	11	c.41- others(30): Show c.41-119525_41-119515dupAAAAAAAAAAA	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53160745	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0098 a0001c0001t0069g0098	1	82	0.0122	11	c.41- others(28): Show c.41-92746_41-92736dupAAAAAAAAAAA	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53161130	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01358.hp1 HG02055.hp2 others(12): Show HG00673.hp1 HG01358.hp1 HG02055.hp2 HG02109.hp1 HG02738.hp2 HG02976.hp2 HG04115.hp1 HG04184.hp1 NA18940.hp2 NA18959.hp1 NA18989.hp1 NA18995.hp2 NA19063.hp2 NA19085.hp1 NA20300.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0016 others(2): Show a0001c0001 a0001c0002 a0001c0016 a0002c0003 a0007c0008	a0001c0001t0007 a0001c0001t0014 a0001c0001t0020 others(9): Show a0001c0001t0007 a0001c0001t0014 a0001c0001t0020 a0001c0001t0026 a0001c0001t0032 a0001c0001t0068 a0001c0001t0080 a0001c0002t0001 a0001c0002t0002 a0001c0016t0025 a0002c0003t0005 a0007c0008t0066	a0001c0001t0007g0123 a0001c0001t0007g0167 a0001c0001t0007g0171 others(12): Show a0001c0001t0007g0123 a0001c0001t0007g0167 a0001c0001t0007g0171 a0001c0001t0014g0004 a0001c0001t0020g0163 a0001c0001t0026g0072 a0001c0001t0032g0134 a0001c0001t0068g0080 a0001c0001t0080g0062 a0001c0002t0001g0133 a0001c0002t0002g0107 a0001c0002t0002g0121 a0001c0016t0025g0135 a0002c0003t0005g0014 a0007c0008t0066g0109	15	78	0.1923	11	c.41- others(28): Show c.41-92356_41-92346dupAAAAAAAAAAA	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53321683	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG02015.hp1 others(4): Show HG00438.hp1 HG00438.hp2 HG02015.hp1 HG02572.hp2 HG03130.hp2 HG03453.hp2 NA18940.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(4): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0022 a0001c0001t0075 a0002c0003t0038	a0001c0001t0003g0128 a0001c0001t0007g0167 a0001c0001t0008g0082 others(4): Show a0001c0001t0003g0128 a0001c0001t0007g0167 a0001c0001t0008g0082 a0001c0001t0009g0131 a0001c0001t0022g0145 a0001c0001t0075g0068 a0002c0003t0038g0031	7	75	0.0933	11	c.8+ others(28): Show c.8+65119_*8+65129dupAAAAAAAAAAA	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53323563	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0079 a0001c0011t0079	a0001c0011t0079g0032 a0001c0011t0079g0032	1	21	0.0476	11	c.8+ others(28): Show c.8+67014_*8+67024dupTTTTTTTTTTT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53340173	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0169 a0001c0001t0043g0169	1	164	0.0061	11	c.8+ others(28): Show c.8+83605_*8+83606insTTTTTTTTTTT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar

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