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
ST14_chr11_130154782_130215362	130193782	T T	TTGATTGT others(177): Show TTGATTGTGACAAAGGTGAACTGTTTATCACTAGCGCCTTCCATCAGTGA TTGTGACAAAGGTGAACTGTTTATCACTAGCGCCTTCCATCAGTGATTGT GACAAAGGTGAACTGTTTATCACTAGCGCCTTCCATCAGTGATTGTGACA AAGGTGAACTGTTTATCACTAGCGCCTTCCATCAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(160): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19010.hp2 NA19057.hp1 NA19057.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0009 a0010 a0012 a0013 a0015 a0016	a0001c0001 a0001c0010 a0001c0012 others(16): Show a0001c0001 a0001c0010 a0001c0012 a0001c0016 a0001c0026 a0001c0028 a0001c0029 a0001c0034 a0001c0038 a0002c0004 a0002c0006 a0003c0005 a0003c0017 a0009c0035 a0010c0020 a0012c0032 a0013c0024 a0015c0027 a0016c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0010t0001 a0001c0010t0002 a0001c0012t0002 a0001c0016t0002 a0001c0026t0001 a0001c0028t0002 a0001c0029t0002 a0001c0034t0007 a0001c0038t0001 a0002c0004t0001 a0002c0004t0002 a0002c0006t0001 a0003c0005t0001 a0003c0005t0002 a0003c0017t0001 a0009c0035t0002 a0010c0020t0003 a0012c0032t0001 a0013c0024t0002 a0015c0027t0001 a0016c0022t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(153): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0252 a0001c0001t0001g0269 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0240 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0260 a0001c0001t0002g0270 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0281 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0008g0014 a0001c0010t0001g0025 a0001c0010t0001g0089 a0001c0010t0002g0084 a0001c0012t0002g0001 a0001c0012t0002g0137 a0001c0016t0002g0107 a0001c0016t0002g0204 a0001c0026t0001g0236 a0001c0028t0002g0257 a0001c0029t0002g0136 a0001c0034t0007g0027 a0001c0038t0001g0158 a0002c0004t0001g0195 a0002c0004t0001g0196 a0002c0004t0001g0197 a0002c0004t0002g0009 a0002c0004t0002g0163 a0002c0004t0002g0164 a0002c0004t0002g0165 a0002c0004t0002g0166 a0002c0004t0002g0167 a0002c0004t0002g0226 a0002c0004t0002g0227 a0002c0004t0002g0228 a0002c0004t0002g0230 a0002c0004t0002g0231 a0002c0004t0002g0235 a0002c0006t0001g0215 a0002c0006t0001g0218 a0003c0005t0001g0005 a0003c0005t0001g0024 a0003c0005t0001g0082 a0003c0005t0001g0120 a0003c0005t0001g0122 a0003c0005t0001g0123 a0003c0005t0001g0124 a0003c0005t0001g0125 a0003c0005t0001g0126 a0003c0005t0001g0127 a0003c0005t0001g0134 a0003c0005t0002g0022 a0003c0017t0001g0005 a0009c0035t0002g0072 a0010c0020t0003g0053 a0012c0032t0001g0202 a0013c0024t0002g0035 a0015c0027t0001g0037 a0016c0022t0001g0031	163	292	0.5582	184	c.876 others(199): Show c.876-358_876-175dupACAAAGGTGAACTGTTTATCACTAGCGCCT TCCATCAGTGATTGTGACAAAGGTGAACTGTTTATCACTAGCGCCTTCCA TCAGTGATTGTGACAAAGGTGAACTGTTTATCACTAGCGCCTTCCATCAG TGATTGTGACAAAGGTGAACTGTTTATCACTAGCGCCTTCCATCAGTGAT TGTG	ST14	ENSG00000149418.11	transcript	ENST00000278742.6	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(177): Show TGTATATATATATGTATATATGTGCATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGCGCATATATACGCATATA TGTGTGTATATGCGCATATATACGCATATATGTGTGTATATGCGCATATA TACGCATATATGTGTGTATATGCGCATATATACGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	188	0.0053	184	c.152 others(203): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGCAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGCGCATATATACGCATATATGTGTGTATATGCGCATATATACGCAT ATATGTGTGTATATGCGCATATATACGCATATATGTGTGTATATGCGCAT ATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(177): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01433.hp1 others(8): Show HG00408.hp2 HG00438.hp2 HG01433.hp1 HG02040.hp1 HG02523.hp1 HG02723.hp1 HG03130.hp2 HG03579.hp2 NA18951.hp2 NA19009.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(8): Show a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0145	11	188	0.0585	184	c.152 others(203): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
STRIP2_chr7_129429432_129493399	129476214	C C	CGGGGCGG others(177): Show CGGGGCGGCTGGCCGGGCGGGGGCTGCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGCTGCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGCTGCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGCTGCCCCCCACCTCCCTCCCGGGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	346	0.0029	184	c.194 others(203): Show c.1945-4527_1945-4526insACGGGGCGGCTGGCCGGGCGGGGGCT GCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGCCCCCCA CCTCCCTCCCGGGTGGGGCGGCTGGCCGGGCGGGGGCTGCCCCCCACCTC CCTCCCGG	STRIP2	ENSG00000128578.10	transcript	ENST00000249344.7	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUFU_chr10_102498972_102638535	102637886	A A	AAAAATAT others(177): Show AAAAATATATAATATATTATATATGATCATATATAATATATAATATATTA TATATGATCATATAAAATATATAATATATTATATATGATCATATAAAATA TATAATATATTATATATGATCATATAAAATATATAATATATTATATATGA TCATATAAATATATAATATATTAATATGATCATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0117	1	268	0.0037	184	c.77 others(195): Show c.7731_*7732insAAAATATATAATATATTATATATGATCATATATA ATATATAATATATTATATATGATCATATAAAATATATAATATATTATATA TGATCATATAAAATATATAATATATTATATATGATCATATAAAATATATA ATATATTATATATGATCATATAAATATATAATATATTAATATGATCATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4352		chr10	TogoVar
SYTL3_chr6_158645054_158769871	158701175	G G	GGTGAGCT others(177): Show GGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG GCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCT GGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTA GGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	292	0.0034	184	c.395 others(201): Show c.395-6006_395-6005insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATG GAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158701221	A A	AAGGAGTG others(177): Show AAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGGGGAGGAGCCG TGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTG TGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGC TGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp1 NA18522.hp2 HG02723.hp2 HG03471.hp1 NA18522.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0004 a0008c0017 a0001c0001 a0003c0004 a0008c0017	a0001c0001t0008 a0003c0004t0001 a0008c0017t0001 a0001c0001t0008 a0003c0004t0001 a0008c0017t0001	a0001c0001t0008g0166 a0003c0004t0001g0165 a0008c0017t0001g0198 a0001c0001t0008g0166 a0003c0004t0001g0165 a0008c0017t0001g0198	3	292	0.0103	184	c.395 others(201): Show c.395-5980_395-5979insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGG GGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGA TGAAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158701299	A A	AAGGGCTG others(177): Show AAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTG AGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTG TGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGC TGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02630.hp1 others(2): Show HG02055.hp2 HG02486.hp1 HG02630.hp1 HG02886.hp1 HG03139.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0003c0004 a0004c0003 others(1): Show a0001c0001 a0003c0004 a0004c0003 a0006c0009	a0001c0001t0001 a0003c0004t0001 a0004c0003t0001 others(1): Show a0001c0001t0001 a0003c0004t0001 a0004c0003t0001 a0006c0009t0001	a0001c0001t0001g0155 a0001c0001t0001g0164 a0003c0004t0001g0220 others(2): Show a0001c0001t0001g0155 a0001c0001t0001g0164 a0003c0004t0001g0220 a0004c0003t0001g0200 a0006c0009t0001g0204	5	292	0.0171	184	c.395 others(201): Show c.395-5928_395-5927insGCTGTCTGGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCT GGGGTGTAGATGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCA TGGAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBC1D16_chr17_79927343_80040872	79929965	T T	TCCCCTCC others(177): Show TCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCC CTCTCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTCCTCTC CTCCCCTCCCCTCCTCTCCCCTCCTCTCCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0023 a0001c0001t0028g0023	1	334	0.0030	184	c.10 others(197): Show c.10893_*10894insGAGAGGGGAGAGGAGGGGAGAGGAGGGGAGGG GAGGAGAGGAGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGAGAGGA GAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGGAGGGGAGGGGAGG GG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2377		chr17	TogoVar
TCF12_chr15_56913644_57294853	57075835	T T	TTTTCTTT others(177): Show TTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	330	0.0030	184	c.222 others(203): Show c.222+12032_222+12033insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TECTA_chr11_121096243_121196490	121114637	C C	CCACCCAC others(177): Show CCACCCACCCATCCATCCACCCACCCACCCACCCACCCACCCATCCACCC ACCCATCCATCCACCTACCCACCCACCCATCCATTCACCCATCCGTCCAC CTACCCACCCACCCATCCACCCATCCATCCATCCATCTACCCACCCACCC ACCCACCCATCCATTCACCTACCCACCCACCCATT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02630.hp1 others(1): Show HG02055.hp2 HG02451.hp1 HG02630.hp1 HG02976.hp1	a0003 a0003	a0003c0004 a0003c0007 a0003c0004 a0003c0007	a0003c0004t0002 a0003c0007t0002 a0003c0004t0002 a0003c0007t0002	a0003c0004t0002g0118 a0003c0004t0002g0309 a0003c0004t0002g0315 others(1): Show a0003c0004t0002g0118 a0003c0004t0002g0309 a0003c0004t0002g0315 a0003c0007t0002g0314	4	348	0.0115	184	c.790 others(199): Show c.790+939_790+940insCACCCACCCACCCACCCACCCATCCACCCA CCCATCCATCCACCTACCCACCCACCCATCCATTCACCCATCCGTCCACC TACCCACCCACCCATCCACCCATCCATCCATCCATCTACCCACCCACCCA CCCACCCATCCATTCACCTACCCACCCACCCATTCACCCACCCATCCATC CACC	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121114637	C C	CCACCCAC others(177): Show CCACCCACCCATCCATCCACCTACCCACCCACCCACCCACCCATCCACCC ACCCATCCATCCACCTACCCACCCACCCATCCATTCACCCATCCGTCCAC CTACCCACCCACCCATCCACCCATCCATCCATCCATCTACCCACCCACCC ACCCACCCATCCATTCACCTACCCACCCACCCATT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0007 a0007	a0007c0070 a0007c0070	a0007c0070t0002 a0007c0070t0002	a0007c0070t0002g0017 a0007c0070t0002g0017	1	348	0.0029	184	c.790 others(199): Show c.790+953_790+954insCCCACCCATCCACCCACCCATCCATCCACC TACCCACCCACCCATCCATTCACCCATCCGTCCACCTACCCACCCACCCA TCCACCCATCCATCCATCCATCTACCCACCCACCCACCCACCCATCCATT CACCTACCCACCCACCCATTCACCCACCCATCCATCCACCTACCCACCCA CCCA	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TERT_chr5_1248167_1300068	1273066	T T	TCGCCATC others(177): Show TCGCCATCCACAGTCACCACACATCAGACCCCCGCGACCAACCGCCATCC ACAGTCACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACATC AGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCCGGGACCAA CCGCCATCCACAGTCACCACATCAGACCCCACGAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0108 a0001c0018t0001g0108	1	392	0.0026	184	c.228 others(201): Show c.2287-787_2287-786insGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTTGGTCCCGGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTTGGTCGCGGGGGTCTGATGTGTGGTGACTGTGG ATGGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273751	C C	CCGCCATC others(177): Show CCGCCATCCACAGTCACCACACATCAGACCCCCACAACCGCCATCCACAG TCACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACACATCAG ACCCTACGACCGCCATCCACAGTCACCACATCAGGCCCCACGACCACCAT CCACAGTCACCACACATCAGACCCCTGTGACCGAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0370 a0001c0007t0001g0371 a0001c0007t0001g0370 a0001c0007t0001g0371	2	392	0.0051	184	c.228 others(203): Show c.2287-1472_2287-1471insATCGGTCACAGGGGTCTGATGTGTGG TGACTGTGGATGGTGGTCGTGGGGCCTGATGTGGTGACTGTGGATGGCGG TCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGTGGTGACTGT GGATGGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THBS3_chr1_155190588_155212897	155190908	G G	GAGGTGAC others(177): Show GAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCT CTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGG CCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTG GAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG02818.hp2 HG01123.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0022 a0002c0002t0001g0024	2	298	0.0067	184	c.49 others(195): Show c.4932_*4933insACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCT CCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCG GCCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGA GAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCT	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4679		chr1	TogoVar
THEG_chr19_356747_381026	377060	G G	GCCCCACC others(177): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	370	0.0027	184	c.-10 others(195): Show c.-1091_-1090insGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1035		chr19	TogoVar
THEG_chr19_356747_381026	377288	C C	CCGTGCCC others(177): Show CCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCT CTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0120 a0001c0001t0040g0120	1	370	0.0027	184	c.-13 others(195): Show c.-1319_-1318insAGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGA GAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1263		chr19	TogoVar
THEG_chr19_356747_381026	377528	G G	GCCCCACC others(177): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 NA18906.hp2 HG03239.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0188 a0001c0001t0001g0161 a0001c0001t0001g0188	2	370	0.0054	184	c.-15 others(195): Show c.-1559_-1558insGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1503		chr19	TogoVar
THEG_chr19_356747_381026	377528	G G	GCCCCACC others(177): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCC CCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0003 a0008c0011t0003	a0008c0011t0003g0185 a0008c0011t0003g0185	1	370	0.0027	184	c.-15 others(195): Show c.-1559_-1558insGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1503		chr19	TogoVar
THEG_chr19_356747_381026	377528	G G	GCCCCACC others(177): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCC CCTCTGTGCCCCCACCCAGCCTCTCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	370	0.0027	184	c.-15 others(195): Show c.-1559_-1558insGCACAGAGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1503		chr19	TogoVar
THEG_chr19_356747_381026	377606	G G	GCCCCACC others(177): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCC GTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCC CCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCTC CCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0320 a0005c0005t0004g0320	1	370	0.0027	184	c.-16 others(195): Show c.-1637_-1636insGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGG GGAGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGG GGGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCA CGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1581		chr19	TogoVar
TLR10_chr4_38767238_38787990	38770757	C C	CTATATAT others(177): Show CTATATATATAATATCCTATTATATATATCCTATATATATAATATCCTAT TATATATATCCTATATATATAATATCCTATTATATATATCCTATATATAT AATATCCTATTATATATATCCTATATATATATAATATCCTATTATATATA TCCTATATATATAATATCCTATTATATATATCCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0090 a0003c0006t0003g0090	1	438	0.0023	184	c.23 others(195): Show c.2397_*2398insTAGGATATATATAATAGGATATTATATATATAGG ATATATATAATAGGATATTATATATATATAGGATATATATAATAGGATAT TATATATATAGGATATATATAATAGGATATTATATATATAGGATATATAT AATAGGATATTATATATATAGGATATATATAATAGGATATTATATATATA	TLR10	ENSG00000174123.11	transcript	ENST00000308973.9	protein_coding		1480		chr4	TogoVar
TMA7B_chr22_39955397_39969905	39956636	C C	CTTTTTTT others(177): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18950.hp1 NA18947.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0001 a0001c0001t0007g0001 a0001c0001t0002g0001 a0001c0001t0007g0001	2	428	0.0047	184	c.-47 others(195): Show c.-4739_-4738insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT	TMA7B	ENSG00000225528.4	transcript	ENST00000424496.3	protein_coding		3760		chr22	TogoVar
TMEM120B_chr12_121707752_121787068	121747572	C C	CTGGGGTA others(177): Show CTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGA GGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGG GGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0045 a0002c0002t0045	a0002c0002t0045g0043 a0002c0002t0045g0043	1	314	0.0032	184	c.189 others(199): Show c.189-754_189-753insTGGGGTAGAAGGCGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCG GGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747633	G G	GCTGGGGT others(177): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	314	0.0032	184	c.189 others(199): Show c.189-680_189-679insTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747909	T T	TGGGAGGC others(177): Show TGGGAGGCACTGGGATAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp1 HG02886.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0018 a0002c0002t0003 a0002c0002t0018	a0002c0002t0003g0087 a0002c0002t0018g0086 a0002c0002t0003g0087 a0002c0002t0018g0086	2	314	0.0064	184	c.189 others(199): Show c.189-404_189-403insATAGAAGGTGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCAC TGGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474466	A A	AGGGGGTT others(177): Show AGGGGGTTAAGGGGATGAGTGAGGGGGTAAGGGGGATGAGTGAGGGGTGT GAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGGGTGAGTGAGGGGGGCG AGGGGGGGTTGAGTGAGGGGGCGAGGGGGGTGAGTGAGGAGGTGAGCGGG TGAGTGAGGAGGTGAGGGGTGAGTGAGGAGGTGAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0070 a0001c0008t0003g0070	1	382	0.0026	184	c.728 others(199): Show c.728-971_728-970insCTCACCTCCTCACTCACCCCTCACCTCCTC ACTCACCCGCTCACCTCCTCACTCACCCCCCTCGCCCCCTCACTCAACCC CCCCTCGCCCCCCTCACTCACCCCCTCACCCCCTCACCCCCTCACTCACC CCCTCACACCCCTCACTCATCCCCCTTACCCCCTCACTCATCCCCTTAAC CCCC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TP53AIP1_chr11_128930370_128947871	128930542	G G	GGGGGTTA others(177): Show GGGGGTTAGGAAGGCTGGGGTTAGGAAGGCCGGGGTTAGGGAGGCCAGGG GTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCTAGGGTTAAGGAGGCCGGGGGTAGGGA GGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	466	0.0022	184	c.50 others(195): Show c.5048_*5049insGGCCTCCCTAACCCCGGCCTTCCTAACCCCCAGC CTCCCTACCCCCGGCCTCCTTAACCCTAGGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTGA CCCCTGGCCTCCCTAACCCCGGCCTTCCTAACCCCAGCCTTCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4827		chr11	TogoVar
TPCN2_chr11_69043932_69095597	69055656	G G	GCCAGTGT others(177): Show GCCAGTGTGCCGTCAGCTCTCCTCCCTCTCCACCATGCAAACTGAGGCCA GTGTGCCGTCAGCTCTCCTCCCTCTCCACCATGCAAACTGAGGCCAGTGT GCCGTCAGCTCTCCTCCCTCTCCACCATGCAAACTGAGGCCAGTGTGCCG TCAGCTCTCCTCCCTCTCCACCATGCAAACTGAGC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0166 a0003c0003t0002g0166	1	404	0.0025	184	c.429 others(199): Show c.429+349_429+350insGCCAGTGTGCCGTCAGCTCTCCTCCCTCTC CACCATGCAAACTGAGGCCAGTGTGCCGTCAGCTCTCCTCCCTCTCCACC ATGCAAACTGAGGCCAGTGTGCCGTCAGCTCTCCTCCCTCTCCACCATGC AAACTGAGCCCAGTGTGCCGTCAGCTCTCCTCCCTCTCCACCATGCAAAC TGAG	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPSD1_chr16_1251069_1264008	1258795	G G	GCCCCCTC others(177): Show GCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTGAGTCCCTCCTCCA TCCTGAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCATCCTGAGCCCCCT CCTCCATCCTGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGT CCCTCCTCCATCCTGAGCCCCCTCCTCCATCCTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03688.hp2 HG04199.hp2 HG03688.hp2 HG04199.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0026 a0003c0003t0026	a0003c0003t0026g0003 a0003c0003t0026g0003	2	270	0.0074	184	c.41 others(193): Show c.419_*420insCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTG AGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCA TCCTGAGCCCCCTCCTCCATCCTGCCCCCTCCCCCACCCTGAGCCCCTTC CCCTTTCTTGAGTCCCTCCTCCATCCTGAGCCCCCTCCTCCATCCTGC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	420		chr16	TogoVar
TRAF6_chr11_36478769_36515272	36507572	T T	TATACATG others(177): Show TATACATGTATATATGTATATATACGTGTATCTACATGTGTACACATGTA TATACGTATACATGTGTACACATGTATATACGTATACATGTGTACACATG TATATACGTATACATGTGTACACATGTATATACGTATACATGTGTACACA TGTATATACGTATACATGTGTACACATGTATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0234 a0001c0001t0009g0234	1	388	0.0026	184	c.-23 others(201): Show c.-23+2475_-23+2476insGTATATACATGTGTACACATGTATACGT ATATACATGTGTACACATGTATACGTATATACATGTGTACACATGTATAC GTATATACATGTGTACACATGTATACGTATATACATGTGTACACATGTAT ACGTATATACATGTGTACACATGTAGATACACGTATATATACATATATAC ATGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRANK1_chr3_36821819_36950054	36879575	T T	TATACAAA others(177): Show TATACAAATATATATAAATATATATATACAAATATATAAATATATAAATA TATATAAATATAAATATATAAATATATATAAATATATAAATATAAATATA TAAATATATAAATATATATAAATATATAAATATATATAAATATATAAATA TATAAATATAAAAATATATAAATATAAATATATAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0005 a0001c0005t0009g0005	1	330	0.0030	184	c.908 others(201): Show c.908-5280_908-5279insTTATATATTTATATTTATATATTTTTAT ATTTATATATTTATATATTTATATATATTTATATATTTATATATATTTAT ATATTTATATATTTATATTTATATATTTATATATATTTATATATTTATAT TTATATATATTTATATATTTATATATTTGTATATATATATTTATATATAT TTGTAT	TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	8/23			chr3	TogoVar
TRAPPC5_chr19_7675833_7692703	7691051	T T	TATCACCA others(177): Show TATCACCACAGACACCTCACAGCTAGAGGCCCCTCAACCATTAACACCAC GACCACAAACACACTCATGTCTGACAATAGCTCAACCACCATCATCACCA CAGACACCTCACAGCTAGAGGCCCCTCAACCATTAACACCATGACCACAA ACACACTCATGTCTGACAATAGCTCAACCACCATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0058 a0002c0003t0058	a0002c0003t0058g0001 a0002c0003t0058g0001	1	454	0.0022	184	c.82 others(195): Show c.8231_*8232insATCACCACAGACACCTCACAGCTAGAGGCCCCTC AACCATTAACACCACGACCACAAACACACTCATGTCTGACAATAGCTCAA CCACCATCATCACCACAGACACCTCACAGCTAGAGGCCCCTCAACCATTA ACACCATGACCACAAACACACTCATGTCTGACAATAGCTCAACCACCATC	TRAPPC5	ENSG00000181029.9	transcript	ENST00000596148.3	protein_coding		3349		chr19	TogoVar
TRIM46_chr1_155168849_155189970	155189879	G G	GGCGGTGG others(177): Show GGCGGTGGAGCCCGGGGCCGGCCTGCTCCGGGGCCGAGGTGACACCGTGG GCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGT GACACCGTGGGCTGCGGGGCGCGGTGGAGCCCGGGGGCCGGCCTGCTCTC CGGGGCCGAGGGTGACACCGTGGGCTGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0010 a0005c0011t0001g0010	1	348	0.0029	184	c.56 others(195): Show c.5689_*5690insGCGGTGGAGCCCGGGGCCGGCCTGCTCCGGGGCC GAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCT CTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGGCGCGGTGGAGCCCGGG GGCCGGCCTGCTCTCCGGGGCCGAGGGTGACACCGTGGGCTGGGGGGGGC	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4910		chr1	TogoVar
TRIML1_chr4_188134441_188152743	188152741	G G	GGGAAGTG others(177): Show GGGAAGTGAGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAG TGAGAGTGGGGGTGAGAAGGGAGTGAGAGTGGGGGTGAGAAGGGAGTGCG AGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGA GGGGGTGAGAAGGGGAGAGTGGGAGCAGAGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0125 a0001c0006t0002g0125	1	228	0.0044	184	c.53 others(195): Show c.5369_*5370insGGAAGTGAGGGGGTGAGAAGGGGAGTGAGAGTGG GGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAGTGAGAGTGGGGG TGAGAAGGGAGTGCGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGTGAG AAGGGGAGTGAGAGAGGGGGTGAGAAGGGGAGAGTGGGAGCAGAGTGAGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4999		chr4	TogoVar
TRPC6_chr11_101446564_101589007	101558204	T T	TGTATACA others(177): Show TGTATACATGTATACATGTATACGGGTATACATGTATACATGTATACATG TATACGGGTATACATGTATACATGTATACATGTATACGGGTATACATGTA TACATGTATACATGTATACGGGTATACATGTATACATGTATACATGTATA CGGGTATACATGTATACATGTATACATGTATACGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp2 HG00738.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0221 a0001c0002t0007g0222 a0001c0002t0007g0221 a0001c0002t0007g0222	2	252	0.0079	184	c.170 others(203): Show c.170+25129_170+25130insCCGTATACATGTATACATGTATACAT GTATACCCGTATACATGTATACATGTATACATGTATACCCGTATACATGT ATACATGTATACATGTATACCCGTATACATGTATACATGTATACATGTAT ACCCGTATACATGTATACATGTATACATGTATACCCGTATACATGTATAC ATGTATAC	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TRPC6_chr11_101446564_101589007	101558386	C C	CATGTATA others(177): Show CATGTATACGGGTATACATGTATACATGTATACATGTATACGGGTATACA TGTATACATGTATACATGTATACGGGTATACATGTATACATGTATACATG TATATGGGTATACATGTATACATGTATACATGTATATGGGTATACATGTA TACATGTATACATGTATATGGGTATACATGTATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0248 a0001c0002t0004g0249 a0001c0002t0004g0248 a0001c0002t0004g0249	2	252	0.0079	184	c.170 others(203): Show c.170+24947_170+24948insATATACATGTATACCCATATACATGT ATACATGTATACATGTATACCCATATACATGTATACATGTATACATGTAT ACCCATATACATGTATACATGTATACATGTATACCCGTATACATGTATAC ATGTATACATGTATACCCGTATACATGTATACATGTATACATGTATACCC GTATACAT	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53415694	T T	TTATATAT others(177): Show TTATATATGTGTGTGTGCATGTGTGTATATATGTGTGTACACATGTTCAT GCCTGTGTACTATATATGTGTATGTGTAGTAAAACATTATATATGTGTAT ATACATCTATGTATGTGCATGTGTGTATATGTGTGTGCACGTGTGCATGC TTGTGTACTTTATATGTATGTGTAGTGAAACATGA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0012 a0001c0001t0051g0012	1	174	0.0058	184	c.9- others(201): Show c.9-71445_*9-71444insATGTGTGTGTGCATGTGTGTATATATGT GTGTACACATGTTCATGCCTGTGTACTATATATGTGTATGTGTAGTAAAA CATTATATATGTGTATATACATCTATGTATGTGCATGTGTGTATATGTGT GTGCACGTGTGCATGCTTGTGTACTTTATATGTATGTGTAGTGAAACATG ATATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSPAN9_chr12_3072379_3291559	3198850	T T	TCACCACC others(177): Show TCACCACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCC ACCACCAGCACCATCAGCACAGGCCACCACCAGCACAGCTCACCACCAGC ACAGGCCACCACCAGCACAGGTCACCACCAGCACAGCTCACCACCAGCAC AGGTCACACCAGCACAGCTCACCACCAGCACAGGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19043.hp2 HG02723.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0047 a0001c0005t0097 a0001c0001t0047 a0001c0005t0097	a0001c0001t0047g0065 a0001c0005t0097g0132 a0001c0001t0047g0065 a0001c0005t0097g0132	2	288	0.0069	184	c.-17 others(201): Show c.-17-2290_-17-2289insCCAGCACAGGCCACCACCAGCACCATCA GCACAGGCCACCACCAGCACAGCTCACCACCAGCACAGGCCACCACCAGC ACAGGTCACCACCAGCACAGCTCACCACCAGCACAGGTCACACCAGCACA GCTCACCACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGG TCACCA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPEAR_chr21_44492893_44716572	44503274	T T	TGGCCTCG others(177): Show TGGCCTCGGTGAGCCCTCGGGGTGAAGCAAGGCTCTGGGAGGAGGCCGGC CTTGGTGAGCCCTCGGGGGGAAGCAAGGCTCTGGGAGGAAGCCGGCCTCG GTGAGCCCTCGGCGGGAAGCAAGGCTCTGGGAGGAGGCCGGAGTTGGTGA GCCCTCGGGGGGAAGCAAGGCTCTGGGAGGAAGCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03139.hp1 HG02818.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0014 a0001c0001t0001g0023	2	294	0.0068	184	c.185 others(203): Show c.1856+1505_1856+1506insGGCTTCCTCCCAGAGCCTTGCTTCCC CCCGAGGGCTCACCAACTCCGGCCTCCTCCCAGAGCCTTGCTTCCCGCCG AGGGCTCACCGAGGCCGGCTTCCTCCCAGAGCCTTGCTTCCCCCCGAGGG CTCACCAAGGCCGGCCTCCTCCCAGAGCCTTGCTTCACCCCGAGGGCTCA CCGAGGCC	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	11/11			chr21	TogoVar
TSPEAR_chr21_44492893_44716572	44503301	C C	CAAGGCTC others(177): Show CAAGGCTCTGGGAGGAGGCCGGCCTTGGTGAGCCCTCGGGGGGAAGCAAG GCTCTGGGAGGAAGCCGGCCTCGGTGAGCCCTCGGCGGGAAGCAAGGCTC TGGGAGGAGGCCGGAGTTGGTGAGCCCTCGGGGGGAAGCAAGGCTCTGGG AGGAAGCCGGCCTCGGTGAGCCCTCGGGGGGAAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG03098.hp2 others(1): Show HG01891.hp1 HG02109.hp1 HG03098.hp2 HG03486.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0007 a0007c0009 a0001c0001 a0001c0007 a0007c0009	a0001c0001t0004 a0001c0007t0023 a0007c0009t0001 a0001c0001t0004 a0001c0007t0023 a0007c0009t0001	a0001c0001t0004g0031 a0001c0001t0004g0217 a0001c0007t0023g0214 others(1): Show a0001c0001t0004g0031 a0001c0001t0004g0217 a0001c0007t0023g0214 a0007c0009t0001g0010	4	294	0.0136	184	c.185 others(203): Show c.1856+1295_1856+1478dupTCTTCCCCCCGAGGGCTCACCGAGGC CGGCTTCCTCCCAGAGCCTTGCTTCCCCCCGAGGGCTCACCAACTCCGGC CTCCTCCCAGAGCCTTGCTTCCCGCCGAGGGCTCACCGAGGCCGGCTTCC TCCCAGAGCCTTGCTTCCCCCCGAGGGCTCACCAAGGCCGGCCTCCTCCC AGAGCCTT	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	11/11			chr21	TogoVar
TUBB2B_chr6_3219277_3232653	3222089	C C	CCACCATC others(177): Show CCACCATCACCACCACCACTACCACTACCACCAACACAATCACCACCACG ATCACCATCATCACCACCACCACCACTACCACTACCACCATCATAATTAC CACCACCATCACCACCACCACCACCACTATCACCATCATCACCACCACCA CCACCACCACAACACTACCACATCACCACCACCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	184	c.26 others(195): Show c.2661_*2662insATGGTGGTGGTGATGTGGTAGTGTTGTGGTGGTG GTGGTGGTGGTGATGATGGTGATAGTGGTGGTGGTGGTGGTGATGGTGGT GGTAATTATGATGGTGGTAGTGGTAGTGGTGGTGGTGGTGATGATGGTGA TCGTGGTGGTGATTGTGTTGGTGGTAGTGGTAGTGGTGGTGGTGATGGTG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		2187		chr6	TogoVar
TULP4_chr6_158307465_158516828	158331720	C C	CGTATATA others(177): Show CGTATATATACGTGTATATATACACGTATATATATATATACGTGTATATA TACACGTATATATATATATATATACGTGTATATATACACGTATATATATA TATATACGTGTATATATACACGTATATATATATATATATATACGTGTATA TATACACGTATATATATATATATATACGTGTATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01978.hp2 HG01993.hp1 others(1): Show HG01255.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0060 others(1): Show a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0002t0001g0073	4	268	0.0149	184	c.252 others(203): Show c.252+17452_252+17453insGTATATATACGTGTATATATACACGT ATATATATATATACGTGTATATATACACGTATATATATATATATATACGT GTATATATACACGTATATATATATATATACGTGTATATATACACGTATAT ATATATATATATATACGTGTATATATACACGTATATATATATATATATAC GTGTATAT	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13			chr6	TogoVar
TULP4_chr6_158307465_158516828	158331720	C C	CGTATATA others(177): Show CGTATATATACGTGTATATATACACGTATATATATATATATACGTGTATA TATACACGTATATATATATATATATATACGTGTATATATACACGTATATA TATATATACGTGTATATATACACGTATATATATATATATATATACGTGTA TATATACACGTATATATATATATATACGTGTATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0024 a0001c0012t0003g0024	1	268	0.0037	184	c.252 others(203): Show c.252+17452_252+17453insGTATATATACGTGTATATATACACGT ATATATATATATATACGTGTATATATACACGTATATATATATATATATAT ACGTGTATATATACACGTATATATATATATACGTGTATATATACACGTAT ATATATATATATATATACGTGTATATATACACGTATATATATATATATAC GTGTATAT	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13			chr6	TogoVar
TULP4_chr6_158307465_158516828	158331720	C C	CGTATATA others(177): Show CGTATATATACGTGTATATATACACGTATATATATATATATACGTGTATA TATACACGTATATATATATATATATATACGTGTATATATACACGTATATA TATATATATACGTGTATATATACACGTATATATATATATATATACGTGTA TATATACACGTATATATATATATATACGTGTATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0040 a0001c0011t0001g0040	1	268	0.0037	184	c.252 others(203): Show c.252+17452_252+17453insGTATATATACGTGTATATATACACGT ATATATATATATATACGTGTATATATACACGTATATATATATATATATAT ACGTGTATATATACACGTATATATATATATATACGTGTATATATACACGT ATATATATATATATATACGTGTATATATACACGTATATATATATATATAC GTGTATAT	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13			chr6	TogoVar
TWIST2_chr2_238843085_238915534	238870569	C C	CCCACACA others(177): Show CCCACACACACCACACCCCATACACACCACACCCCACACACACCACACCC CACACACACCACACACCCCACACACACCACACCCCATACACACCACACCC CACACACACCACACCCCACACACACCACACCCCACACACACCACACACCC CACACACACCACACCCCACACACACCACACCCCAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04228.hp1 HG03688.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0136 a0001c0001t0001g0137	2	338	0.0059	184	c.35 others(203): Show c.35+21836_*35+21837insCCACACACACCACACCCCATACACAC CACACCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCATACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCA CACCCCAT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(177): Show ACACACACCACACACCCCACACACACATCACATACCACACACAAACCACA CACCCTACACACACCACACACCCCACACACACCACACACCCGACACACGC CACACACACACCACACACCCCACGCACACATCACATACCACACACAAACC ACACACCCTACACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	338	0.0030	184	c.35 others(203): Show c.35+22440_*35+22441insTCACATACCACACACAAACCACACAC CCTACACACACCACACACCCCACACACACCACACACCCGACACACGCCAC ACACACACCACACACCCCACGCACACATCACATACCACACACAAACCACA CACCCTACACACCCCACACACCCCACACACACCACACACCACACACCCCA CACACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE2E3_chr2_180975605_181068425	181021554	C C	CCCTCCCT others(177): Show CCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCC CTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCT CCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02257.hp2 HG02622.hp1 others(9): Show HG01361.hp1 HG02257.hp2 HG02622.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03486.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0302 a0001c0001t0001g0308 a0001c0001t0003g0007 a0001c0001t0003g0292	12	338	0.0355	184	c.246 others(203): Show c.246-36136_246-36135insCCCTTCCTTCCTTCCTTCCTCCCTCC CTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCT CCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCC CTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCT CCCTTCCT	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(177): Show TATATACACACGTGTGTATATACGTATATACACACGTGTGTATATACGTA TATACACACGTGTGTATATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACACATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG03516.hp1 HG00642.hp1 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0168 a0003c0004t0001g0186 a0001c0001t0001g0168 a0003c0004t0001g0186	2	320	0.0063	184	c.-38 others(195): Show c.-3848_-3847insATATACACACGTGTGTATATACGTATATACACAC GTGTGTATATACGTATATACACACGTGTGTATATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UCN3_chr10_5359966_5379692	5369903	G G	GTGTGTGT others(177): Show GTGTGTGTGTATGTGTGTGTGTGTATATGTGTGTGTGTATGTGTGTGTGT GTATATGTGTGTGTGTATGTGTGTGTATATGTGTGTGTGTGTATATGTGT GTATATGTGTGTGTGTGTATATGTGCGTGTATATGTGTGTGTATGTGTGT ATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0183 a0002c0002t0017g0183	1	468	0.0021	184	c.-6- others(199): Show c.-6-3801_-6-3800insGTGTGTGTGTGTATATGTGTGTGTGTATGT GTGTGTGTGTATATGTGTGTGTGTATGTGTGTGTATATGTGTGTGTGTGT ATATGTGTGTATATGTGTGTGTGTGTATATGTGCGTGTATATGTGTGTGT ATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGT GTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar

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