Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
TEX9_chr15_56360426_56435154	56426626	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	234	0.0043	18	c.964 others(33): Show c.964-978_964-977insTATATATATATATATACA	TEX9	ENSG00000151575.15	transcript	ENST00000696102.1	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
TFAP2B_chr6_50813871_50852619	50819808	G G	GCGAGGCG others(11): Show GCGAGGCGGACTAGGCGGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03139.hp1 HG01123.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0031 a0001c0001t0027 a0001c0001t0031	a0001c0001t0027g0185 a0001c0001t0031g0184 a0001c0001t0027g0185 a0001c0001t0031g0184	2	380	0.0053	18	c.81+ others(31): Show c.81+845_81+862dupACTAGGCGGACGAGGCGG	TFAP2B	ENSG00000008196.13	transcript	ENST00000393655.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TFAP2D_chr6_50708526_50778033	50742954	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02683.hp1 HG03491.hp1 others(11): Show HG02129.hp2 HG02683.hp1 HG03491.hp1 HG03831.hp2 NA18939.hp2 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18962.hp2 NA18994.hp2 NA18999.hp1 NA19079.hp2 NA19085.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0016 others(9): Show a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0053 a0001c0001t0002g0130 a0001c0001t0002g0248 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0312 a0001c0001t0003g0262 a0001c0001t0003g0269	14	73	0.1918	18	c.884 others(35): Show c.884-2129_884-2112dupCACACACACACACACACA	TFAP2D	ENSG00000008197.5	transcript	ENST00000008391.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
TFAP2D_chr6_50708526_50778033	50766654	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00597.hp2 others(19): Show HG00140.hp1 HG00438.hp1 HG00597.hp2 HG00733.hp1 HG00738.hp1 HG01071.hp1 HG01109.hp2 HG01258.hp1 HG01361.hp2 HG02074.hp1 HG02129.hp2 HG02738.hp1 HG03831.hp2 HG03942.hp2 NA18953.hp2 NA18975.hp2 NA18979.hp1 NA18984.hp1 NA19002.hp2 NA19005.hp1 NA19058.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0006t0002	a0001c0001t0002g0003 a0001c0001t0002g0127 a0001c0001t0002g0128 others(17): Show a0001c0001t0002g0003 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0225 a0001c0001t0002g0238 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0267 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0003g0250 a0001c0001t0004g0071 a0001c0001t0004g0131 a0001c0006t0002g0056	22	58	0.3793	18	c.114 others(37): Show c.1140-5983_1140-5966dupTTTTTTTTTTTTTTTTTT	TFAP2D	ENSG00000008197.5	transcript	ENST00000008391.4	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
TFAP4_chr16_4252186_4278023	4275507	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03225.hp1 HG03130.hp1 HG03225.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0144 a0003c0004t0001g0143 a0001c0001t0001g0144 a0003c0004t0001g0143	2	142	0.0141	18	c.-27 others(29): Show c.-2762_-2761insAAAAAAAAAAAAAAAAAA	TFAP4	ENSG00000090447.12	transcript	ENST00000204517.11	protein_coding		2485		chr16	TogoVar
TFAP4_chr16_4252186_4278023	4277617	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02896.hp2 HG02897.hp1 HG02451.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0001 a0001c0001t0003 a0001c0001t0015	a0001c0001t0001g0079 a0001c0001t0003g0080 a0001c0001t0015g0112 a0001c0001t0001g0079 a0001c0001t0003g0080 a0001c0001t0015g0112	3	155	0.0194	18	c.-48 others(29): Show c.-4872_-4871insATTATTATTATTATTATT	TFAP4	ENSG00000090447.12	transcript	ENST00000204517.11	protein_coding		4595		chr16	TogoVar
TFB1M_chr6_155251134_155319484	155287551	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02723.hp1 HG03579.hp1 HG00609.hp1 HG02723.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009	a0001c0001t0002g0267 a0001c0001t0006g0226 a0001c0001t0009g0228 a0001c0001t0002g0267 a0001c0001t0006g0226 a0001c0001t0009g0228	3	58	0.0517	18	c.547 others(35): Show c.547-2292_547-2275dupACACACACACACACACAC	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	4/6			chr6	TogoVar
TFB1M_chr6_155251134_155319484	155305697	A A	ATATATTA others(11): Show ATATATTAAATTATATATT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03453.hp1 NA18906.hp1 HG02723.hp2 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0010 a0001c0001t0013 a0001c0002t0010	a0001c0001t0013g0032 a0001c0001t0013g0033 a0001c0002t0010g0034 a0001c0001t0013g0032 a0001c0001t0013g0033 a0001c0002t0010g0034	3	345	0.0087	18	c.285 others(35): Show c.285+5490_285+5491insAATATATAATTTAATATA	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFB2M_chr1_246535561_246571261	246541351	G G	GAGGATGG others(11): Show GAGGATGGGAGGAGGGTGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	443	0.0023	18	c.102 others(35): Show c.1020-167_1020-150dupTCACCCTCCTCCCATCCT	TFB2M	ENSG00000162851.8	transcript	ENST00000366514.5	protein_coding	7/7			chr1	TogoVar
TFB2M_chr1_246535561_246571261	246546962	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0312 a0001c0003t0002g0312	1	442	0.0023	18	c.858 others(35): Show c.858+1582_858+1583insGTGTGTGTGTGTGTGTGT	TFB2M	ENSG00000162851.8	transcript	ENST00000366514.5	protein_coding	6/7			chr1	TogoVar
TFCP2L1_chr2_121211587_121290202	121269907	T T	TCAAAAAA others(11): Show TCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02129.hp2 HG02818.hp2 others(6): Show HG00738.hp1 HG02129.hp2 HG02818.hp2 HG03540.hp1 NA18944.hp1 NA18994.hp1 NA19000.hp1 NA19005.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0013 a0001c0001t0039 others(3): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0039 a0001c0002t0026 a0001c0002t0036 a0001c0003t0071	a0001c0001t0001g0033 a0001c0001t0001g0062 a0001c0001t0001g0135 others(6): Show a0001c0001t0001g0033 a0001c0001t0001g0062 a0001c0001t0001g0135 a0001c0001t0001g0170 a0001c0001t0013g0086 a0001c0001t0039g0156 a0001c0002t0026g0233 a0001c0002t0036g0103 a0001c0003t0071g0282	9	203	0.0443	18	c.214 others(37): Show c.214+11212_214+11213insTTTTTTTTTTTTTTTTTG	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding	2/14			chr2	TogoVar
TFCP2L1_chr2_121211587_121290202	121269918	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02273.hp2 HG04115.hp2 others(6): Show HG01346.hp2 HG02273.hp2 HG04115.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18999.hp2 NA19054.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0022 a0001c0003t0076 a0002c0006t0004	a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0078 others(6): Show a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0078 a0001c0002t0002g0327 a0001c0002t0003g0048 a0001c0002t0003g0112 a0001c0002t0022g0184 a0001c0003t0076g0328 a0002c0006t0004g0361	9	127	0.0709	18	c.214 others(37): Show c.214+11201_214+11202insATATTTTTTTTTTTTTTT	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding	2/14			chr2	TogoVar
TFCP2L1_chr2_121211587_121290202	121287677	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01167.hp2 HG01346.hp1 others(9): Show HG00597.hp1 HG01167.hp2 HG01346.hp1 HG02056.hp1 HG02109.hp2 HG02129.hp2 HG02273.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA19056.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0011 a0001c0001 a0001c0002 a0002c0011	a0001c0001t0001 a0001c0002t0003 a0001c0002t0041 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0041 a0002c0011t0006	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 others(9): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0002t0003g0039 a0001c0002t0003g0050 a0001c0002t0041g0201 a0002c0011t0006g0049	12	151	0.0795	18	c.-25 others(29): Show c.-2569_-2568insAAAAAAAAAAAAAAAAAA	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding		2476		chr2	TogoVar
TFCP2_chr12_51088656_51178135	51149024	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02451.hp1 HG02717.hp1 others(10): Show HG01346.hp2 HG02451.hp1 HG02717.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03239.hp1 HG03540.hp1 HG04228.hp1 NA18906.hp2 NA18959.hp2 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0019 others(1): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0019 a0001c0001t0027	a0001c0001t0005g0119 a0001c0001t0005g0121 a0001c0001t0005g0122 others(10): Show a0001c0001t0005g0119 a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0135 a0001c0001t0008g0132 a0001c0001t0019g0053 a0001c0001t0027g0244	13	102	0.1275	18	c.122 others(37): Show c.122+23276_122+23277insTTTTTTTTTTTTTTTTTT	TFCP2	ENSG00000135457.11	transcript	ENST00000257915.10	protein_coding	1/14			chr12	TogoVar
TFCP2_chr12_51088656_51178135	51173870	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 NA18612.hp1 NA19010.hp1 HG03834.hp1 NA18612.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0210 a0001c0001t0001g0238 a0001c0001t0001g0240	3	16	0.1875	18	c.-14 others(29): Show c.-1449_-1448insTTTTTTTTTTTTTTTTTT	TFCP2	ENSG00000135457.11	transcript	ENST00000257915.10	protein_coding		736		chr12	TogoVar
TFDP2_chr3_141939428_142154544	141968962	T T	TATCTCAT others(11): Show TATCTCATATATATATAAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02818.hp2 HG02965.hp1 others(5): Show HG01255.hp1 HG02818.hp2 HG02965.hp1 HG03471.hp2 HG03579.hp1 NA19005.hp1 NA19030.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0031 a0001c0001t0094 a0001c0001t0097 others(5): Show a0001c0001t0031 a0001c0001t0094 a0001c0001t0097 a0001c0001t0098 a0001c0001t0112 a0001c0001t0113 a0001c0001t0144 a0001c0002t0117	a0001c0001t0031g0221 a0001c0001t0094g0133 a0001c0001t0097g0059 others(5): Show a0001c0001t0031g0221 a0001c0001t0094g0133 a0001c0001t0097g0059 a0001c0001t0098g0058 a0001c0001t0112g0081 a0001c0001t0113g0098 a0001c0001t0144g0042 a0001c0002t0117g0234	8	249	0.0321	18	c.732 others(35): Show c.732+1110_732+1111insGTTATATATATATGAGAT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TFDP2_chr3_141939428_142154544	141973123	A A	ATATTTTT others(11): Show ATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0018 a0001c0001t0043g0018	1	189	0.0053	18	c.663 others(33): Show c.663+924_663+925insAAAAAAAAAAAAAAAATA	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	8/12			chr3	TogoVar
TFEB_chr6_41678978_41740608	41697408	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02818.hp1 HG03098.hp2 others(2): Show HG01168.hp2 HG02818.hp1 HG03098.hp2 HG03516.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0009 a0001c0005t0001 a0001c0005t0009	a0001c0005t0001g0118 a0001c0005t0001g0225 a0001c0005t0001g0257 others(2): Show a0001c0005t0001g0118 a0001c0005t0001g0225 a0001c0005t0001g0257 a0001c0005t0001g0275 a0001c0005t0009g0259	5	85	0.0588	18	c.-22 others(35): Show c.-22-6191_-22-6174dupTTTTTTTTTTTTTTTTTT	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding	1/8			chr6	TogoVar
TFEC_chr7_115930152_116035763	115944013	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG01168.hp1 others(11): Show HG00741.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01891.hp2 HG02148.hp2 HG02486.hp1 HG02717.hp2 HG02723.hp2 HG03225.hp1 HG03704.hp1 NA18946.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0042 a0001c0001t0001g0124 a0001c0001t0001g0130 others(10): Show a0001c0001t0001g0042 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0227 a0001c0001t0002g0003 a0001c0001t0002g0149 a0001c0001t0002g0207 a0001c0001t0002g0262 a0001c0001t0004g0021 a0001c0002t0001g0024 a0001c0002t0001g0047 a0001c0002t0001g0050 a0002c0003t0001g0102	14	89	0.1573	18	c.516 others(35): Show c.516-1991_516-1974dupAAAAAAAAAAAAAAAAAA	TFEC	ENSG00000105967.16	transcript	ENST00000265440.12	protein_coding	6/7			chr7	TogoVar
TFEC_chr7_115930152_116035763	115974406	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0294 a0001c0001t0003g0294	1	190	0.0053	18	c.181 others(33): Show c.181-168_181-151dupTATATATATATATATATA	TFEC	ENSG00000105967.16	transcript	ENST00000265440.12	protein_coding	2/7			chr7	TogoVar
TFIP11_chr22_26486240_26517473	26490559	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	61	0.0164	18	c.14 others(29): Show c.1436_*1453dupAAAAAAAAAAAAAAAAAA	TFIP11	ENSG00000100109.17	transcript	ENST00000407690.6	protein_coding		680		chr22	TogoVar
TFPI_chr2_187459230_187559435	187555848	C C	CCTCCCTC others(11): Show CCTCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02622.hp1 HG02965.hp1 others(2): Show HG02109.hp1 HG02622.hp1 HG02965.hp1 HG03453.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0149 a0001c0001t0002g0148 a0001c0001t0004g0152 others(2): Show a0001c0001t0001g0149 a0001c0001t0002g0148 a0001c0001t0004g0152 a0001c0001t0005g0150 a0001c0001t0007g0151	5	259	0.0193	18	c.-16 others(29): Show c.-1669_-1652dupAGGGAGAGGGAGAGGGAG	TFPI	ENSG00000003436.16	transcript	ENST00000233156.9	protein_coding		1414		chr2	TogoVar
TFPT_chr19_54102020_54120657	54105264	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	87	0.0115	18	c.17 others(29): Show c.1768_*1785dupAAAAAAAAAAAAAAAAAA	TFPT	ENSG00000105619.14	transcript	ENST00000391759.6	protein_coding		1755		chr19	TogoVar
TFR2_chr7_100615420_100646552	100634177	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02071.hp2 NA19011.hp1 HG01934.hp1 HG02071.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0237 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0237	3	60	0.0500	18	c.474 others(33): Show c.474-639_474-622dupGTGTGTGTGTGTGTGTGT	TFR2	ENSG00000106327.13	transcript	ENST00000223051.8	protein_coding	3/17			chr7	TogoVar
TFRC_chr3_196044284_196087090	196070774	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01099.hp2 others(13): Show HG00323.hp2 HG00733.hp1 HG01099.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01516.hp2 HG01952.hp2 HG01978.hp1 HG02630.hp2 HG03239.hp1 HG03669.hp2 HG04204.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0010c0010	a0001c0001t0007 a0002c0002t0001 a0002c0003t0004 others(1): Show a0001c0001t0007 a0002c0002t0001 a0002c0003t0004 a0010c0010t0019	a0001c0001t0007g0293 a0001c0001t0007g0294 a0001c0001t0007g0295 others(13): Show a0001c0001t0007g0293 a0001c0001t0007g0294 a0001c0001t0007g0295 a0001c0001t0007g0296 a0002c0002t0001g0225 a0002c0002t0001g0280 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0003t0004g0033 a0002c0003t0004g0034 a0002c0003t0004g0036 a0002c0003t0004g0037 a0002c0003t0004g0046 a0002c0003t0004g0340 a0010c0010t0019g0266	16	91	0.1758	18	c.687 others(33): Show c.687+604_687+621dupATTATTATTATTATTATT	TFRC	ENSG00000072274.14	transcript	ENST00000360110.9	protein_coding	6/18			chr3	TogoVar
TF_chr3_133741393_133801641	133771743	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02015.hp2 HG02135.hp1 others(8): Show HG01123.hp2 HG02015.hp2 HG02135.hp1 HG02738.hp2 HG03209.hp2 HG03516.hp1 HG04184.hp2 NA18967.hp1 NA18968.hp2 NA19060.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0002c0022 a0001c0006 a0002c0002 a0002c0022	a0001c0006t0018 a0001c0006t0050 a0001c0006t0099 others(8): Show a0001c0006t0018 a0001c0006t0050 a0001c0006t0099 a0002c0002t0002 a0002c0002t0086 a0002c0002t0089 a0002c0002t0091 a0002c0002t0093 a0002c0002t0094 a0002c0002t0136 a0002c0022t0096	a0001c0006t0018g0060 a0001c0006t0050g0058 a0001c0006t0099g0151 others(8): Show a0001c0006t0018g0060 a0001c0006t0050g0058 a0001c0006t0099g0151 a0002c0002t0002g0130 a0002c0002t0086g0041 a0002c0002t0089g0133 a0002c0002t0091g0041 a0002c0002t0093g0139 a0002c0002t0094g0141 a0002c0002t0136g0236 a0002c0022t0096g0143	11	102	0.1078	18	c.168 others(37): Show c.1687+1177_1687+1194dupAAAAAAAAAAAAAAAAAA	TF	ENSG00000091513.16	transcript	ENST00000402696.9	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
TGDS_chr13_94569054_94601152	94587515	C C	CAAAAGTT others(11): Show CAAAAGTTTATAAACAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02258.hp2 HG01109.hp2 HG02145.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0101 a0001c0001t0003g0191 a0001c0001t0003g0192	3	372	0.0081	18	c.313 others(35): Show c.313+3337_313+3338insTTTTGTTTATAAACTTTT	TGDS	ENSG00000088451.11	transcript	ENST00000261296.7	protein_coding	4/11			chr13	TogoVar
TGFA_chr2_70442284_70558826	70504433	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00733.hp1 NA18943.hp2 others(1): Show HG00609.hp2 HG00733.hp1 NA18943.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0172 a0001c0001t0002g0035 a0001c0001t0004g0286 others(1): Show a0001c0001t0001g0172 a0001c0001t0002g0035 a0001c0001t0004g0286 a0001c0001t0007g0135	4	190	0.0211	18	c.94+ others(35): Show c.94+10408_94+10425dupATATATATATATATATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFA_chr2_70442284_70558826	70504463	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0104 a0001c0001t0016g0104	1	314	0.0032	18	c.94+ others(35): Show c.94+10395_94+10396insGTGTATATATATATATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFA_chr2_70442284_70558826	70504463	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0102 a0001c0001t0008g0102	1	314	0.0032	18	c.94+ others(35): Show c.94+10395_94+10396insGTATATATATATATATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFA_chr2_70442284_70558826	70504477	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	323	0.0031	18	c.94+ others(35): Show c.94+10381_94+10382insATATATATATATATATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFA_chr2_70442284_70558826	70530571	C C	CTGGGCCA others(11): Show CTGGGCCACAGGCGGCCCA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0248 a0002c0003t0012g0248	1	334	0.0030	18	c.41- others(35): Show c.41-15677_41-15660dupTGGGCCGCCTGTGGCCCA	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	1/5			chr2	TogoVar
TGFB2_chr1_218340336_218449619	218346056	G G	GCACACAC others(11): Show GCACACACACACACACACA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0007 a0001c0001t0087g0007	1	229	0.0044	18	c.-63 others(27): Show c.-638_-621dupACACACACACACACACAC	TGFB2	ENSG00000092969.12	transcript	ENST00000366930.9	protein_coding	1/7	620	INFO_REALIGN_3_PRIME	chr1	TogoVar
TGFBI_chr5_136023988_136068818	136066909	A A	AACACACA others(11): Show AACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01361.hp2 others(49): Show HG00741.hp2 HG01070.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02148.hp2 HG02257.hp1 HG03017.hp2 HG03688.hp1 HG04204.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp2 NA18967.hp2 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA19002.hp1 NA19009.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19079.hp1 NA19083.hp1 NA19087.hp1 NA19088.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0011 others(2): Show a0001c0002 a0001c0003 a0001c0011 a0001c0013 a0003c0009	a0001c0002t0001 a0001c0003t0001 a0001c0011t0001 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0011t0001 a0001c0013t0001 a0003c0009t0001	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0033 others(21): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0033 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0065 a0001c0002t0001g0097 a0001c0002t0001g0102 a0001c0002t0001g0106 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0120 a0001c0002t0001g0149 a0001c0002t0001g0183 a0001c0002t0001g0187 a0001c0003t0001g0026 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0011t0001g0001 a0001c0013t0001g0001 a0003c0009t0001g0001	52	94	0.5532	18	c.36 others(29): Show c.3683_*3684insACACACACACACACACAC	TGFBI	ENSG00000120708.17	transcript	ENST00000442011.7	protein_coding		3092		chr5	TogoVar
TGFBR1_chr9_99100113_99159192	99134802	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0065 a0001c0001t0024g0065	1	40	0.0250	18	c.574 others(35): Show c.574+2097_574+2114dupATATATATATATATATAT	TGFBR1	ENSG00000106799.14	transcript	ENST00000374994.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
TGFBR1_chr9_99100113_99159192	99134802	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	40	0.0250	18	c.574 others(35): Show c.574+2064_574+2065insTTATATATATATATATAT	TGFBR1	ENSG00000106799.14	transcript	ENST00000374994.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
TGFBR1_chr9_99100113_99159192	99134830	A A	ACATATAT others(11): Show ACATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0294 a0001c0001t0006g0294	1	360	0.0028	18	c.574 others(35): Show c.574+2091_574+2092insCATATATATATATATATG	TGFBR1	ENSG00000106799.14	transcript	ENST00000374994.9	protein_coding	3/8			chr9	TogoVar
TGFBR2_chr3_30601601_30699142	30648460	A A	ACACACAC others(11): Show ACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02155.hp1 HG02451.hp2 others(8): Show HG01255.hp2 HG02155.hp1 HG02451.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp2 NA18957.hp1 NA18969.hp2 NA19002.hp1 NA19066.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0064 a0001c0001t0001g0084 a0001c0001t0001g0312 others(8): Show a0001c0001t0001g0064 a0001c0001t0001g0084 a0001c0001t0001g0312 a0001c0001t0002g0128 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0364 a0001c0002t0001g0005 a0001c0002t0001g0185 a0001c0002t0001g0228 a0001c0002t0002g0320	11	277	0.0397	18	c.264 others(35): Show c.264-1808_264-1807insCACACACACACACACCCA	TGFBR2	ENSG00000163513.19	transcript	ENST00000295754.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
TGFBR3L_chr19_7909830_7924097	7913043	G G	GCTCTCTC others(11): Show GCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	302	0.0033	18	c.-32 others(29): Show c.-3225_-3224insCTCTCTCTCTCTCTCTCT	TGFBR3L	ENSG00000260001.7	transcript	ENST00000565886.2	protein_coding		1786		chr19	TogoVar
TGFBR3_chr1_91675343_91891151	91772335	A A	AATCCCAT others(11): Show AATCCCATTTTTGTTTAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00738.hp1 others(111): Show HG00099.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18947.hp2 NA18959.hp1 NA18964.hp2 NA18980.hp2 NA18982.hp1 NA18988.hp1 NA18991.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19066.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0013 a0001c0015 a0001c0025 a0001c0034 a0001c0035 a0002c0004 a0002c0010 a0002c0012 a0002c0016 a0002c0038 a0006c0036 a0007c0022 a0011c0032 a0012c0031	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(64): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0002t0008 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0016 a0001c0003t0019 a0001c0003t0040 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0005t0008 a0001c0006t0003 a0001c0006t0007 a0001c0006t0011 a0001c0006t0016 a0001c0006t0025 a0001c0007t0001 a0001c0007t0003 a0001c0007t0005 a0001c0007t0006 a0001c0007t0008 a0001c0013t0018 a0001c0015t0001 a0001c0015t0004 a0001c0025t0001 a0001c0034t0027 a0001c0035t0003 a0002c0004t0002 a0002c0004t0009 a0002c0004t0013 a0002c0004t0031 a0002c0010t0009 a0002c0010t0021 a0002c0012t0010 a0002c0012t0032 a0002c0016t0009 a0002c0016t0024 a0002c0016t0029 a0002c0038t0014 a0006c0036t0001 a0007c0022t0008 a0011c0032t0001 a0012c0031t0019	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0063 others(111): Show a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0063 a0001c0001t0001g0094 a0001c0001t0001g0132 a0001c0001t0001g0267 a0001c0001t0003g0237 a0001c0001t0004g0025 a0001c0001t0004g0029 a0001c0001t0004g0078 a0001c0001t0004g0081 a0001c0001t0004g0272 a0001c0001t0005g0033 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0042 a0001c0001t0005g0082 a0001c0001t0005g0092 a0001c0001t0005g0098 a0001c0001t0005g0165 a0001c0001t0005g0230 a0001c0001t0005g0255 a0001c0001t0005g0274 a0001c0001t0006g0034 a0001c0001t0006g0056 a0001c0001t0006g0075 a0001c0001t0006g0240 a0001c0001t0007g0046 a0001c0001t0007g0093 a0001c0001t0008g0011 a0001c0001t0008g0013 a0001c0001t0008g0016 a0001c0001t0008g0268 a0001c0001t0010g0009 a0001c0001t0010g0264 a0001c0001t0011g0040 a0001c0001t0017g0263 a0001c0001t0034g0010 a0001c0001t0037g0015 a0001c0001t0038g0027 a0001c0001t0039g0014 a0001c0001t0043g0028 a0001c0001t0045g0265 a0001c0001t0047g0044 a0001c0001t0048g0062 a0001c0001t0049g0030 a0001c0001t0050g0271 a0001c0001t0052g0023 a0001c0001t0053g0007 a0001c0002t0008g0259 a0001c0003t0003g0049 a0001c0003t0003g0169 a0001c0003t0004g0047 a0001c0003t0004g0048 a0001c0003t0005g0114 a0001c0003t0006g0074 a0001c0003t0007g0164 a0001c0003t0016g0256 a0001c0003t0019g0008 a0001c0003t0040g0066 a0001c0005t0001g0246 a0001c0005t0004g0248 a0001c0005t0005g0154 a0001c0005t0005g0155 a0001c0005t0005g0249 a0001c0005t0005g0269 a0001c0005t0008g0254 a0001c0006t0003g0053 a0001c0006t0007g0031 a0001c0006t0007g0105 a0001c0006t0007g0109 a0001c0006t0007g0110 a0001c0006t0007g0112 a0001c0006t0007g0239 a0001c0006t0011g0045 a0001c0006t0016g0262 a0001c0006t0016g0277 a0001c0006t0025g0119 a0001c0007t0001g0107 a0001c0007t0003g0106 a0001c0007t0005g0071 a0001c0007t0006g0229 a0001c0007t0008g0052 a0001c0007t0008g0117 a0001c0013t0018g0247 a0001c0015t0001g0012 a0001c0015t0004g0073 a0001c0015t0004g0077 a0001c0015t0004g0089 a0001c0025t0001g0252 a0001c0034t0027g0001 a0001c0035t0003g0055 a0002c0004t0002g0202 a0002c0004t0002g0212 a0002c0004t0002g0223 a0002c0004t0009g0198 a0002c0004t0009g0200 a0002c0004t0009g0213 a0002c0004t0013g0242 a0002c0004t0013g0273 a0002c0004t0031g0183 a0002c0010t0009g0216 a0002c0010t0021g0178 a0002c0012t0010g0060 a0002c0012t0032g0243 a0002c0016t0009g0215 a0002c0016t0024g0204 a0002c0016t0024g0218 a0002c0016t0029g0108 a0002c0038t0014g0171 a0006c0036t0001g0232 a0007c0022t0008g0162 a0011c0032t0001g0043 a0012c0031t0019g0024	114	282	0.4043	18	c.247 others(37): Show c.247-13603_247-13586dupCCTAAACAAAAATGGGAT	TGFBR3	ENSG00000069702.11	transcript	ENST00000212355.9	protein_coding	3/16			chr1	TogoVar
TGFBRAP1_chr2_105259414_105334735	105316483	G G	GCGCGCGC others(11): Show GCGCGCGCTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0019 a0003c0014t0019	a0003c0014t0019g0337 a0003c0014t0019g0337	1	377	0.0027	18	c.-17 others(35): Show c.-17-8166_-17-8165insGCGCGCGCGCAGCGCGCG	TGFBRAP1	ENSG00000135966.14	transcript	ENST00000393359.7	protein_coding	1/11			chr2	TogoVar
TGIF1_chr18_3445172_3464978	3448717	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0037 a0001c0002t0002g0037	1	232	0.0043	18	c.-17 others(29): Show c.-1773_-1772insTTTTTTTTTTTTTTTTTT	TGIF1	ENSG00000177426.22	transcript	ENST00000343820.10	protein_coding		1454		chr18	TogoVar
TGM1_chr14_24244114_24268177	24250179	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGAGAGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0001 a0013c0027t0001	a0013c0027t0001g0140 a0013c0027t0001g0140	1	41	0.0244	18	c.222 others(35): Show c.2226-639_2226-638insTCTCTCACACACACACAC	TGM1	ENSG00000092295.12	transcript	ENST00000206765.11	protein_coding	14/14			chr14	TogoVar
TGM1_chr14_24244114_24268177	24250179	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02165.hp1 NA18941.hp1 others(5): Show HG00597.hp2 HG02165.hp1 NA18941.hp1 NA18942.hp1 NA18957.hp1 NA18975.hp1 NA18977.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0036 a0001c0001t0001g0166 a0001c0003t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0166 a0001c0003t0001g0016	8	48	0.1667	18	c.222 others(35): Show c.2226-639_2226-638insTCTCACACACACACACAC	TGM1	ENSG00000092295.12	transcript	ENST00000206765.11	protein_coding	14/14			chr14	TogoVar
TGM1_chr14_24244114_24268177	24254066	A A	ACAAGATC others(11): Show ACAAGATCATGTCTGGGAC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0001 a0007c0022t0001	a0007c0022t0001g0122 a0007c0022t0001g0122	1	418	0.0024	18	c.222 others(33): Show c.2225+85_2225+86insGTCCCAGACATGATCTTG	TGM1	ENSG00000092295.12	transcript	ENST00000206765.11	protein_coding	14/14			chr14	TogoVar
TGM2_chr20_38122385_38170270	38123776	T T	TATACCTA others(11): Show TATACCTATTATATATAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	349	0.0029	18	c.64 others(29): Show c.6442_*6443insCTTATATATAATAGGTAT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3608		chr20	TogoVar
TGM2_chr20_38122385_38170270	38135404	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02083.hp1 HG02083.hp2 others(12): Show HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02630.hp1 NA18906.hp2 NA18943.hp2 NA18944.hp1 NA18957.hp1 NA18977.hp2 NA18981.hp1 NA18987.hp2 NA18994.hp2 NA19009.hp1 NA19012.hp1 NA19057.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0020 a0001c0002 a0006c0020	a0001c0002t0002 a0001c0002t0017 a0006c0020t0002 a0001c0002t0002 a0001c0002t0017 a0006c0020t0002	a0001c0002t0002g0031 a0001c0002t0002g0103 a0001c0002t0002g0150 others(11): Show a0001c0002t0002g0031 a0001c0002t0002g0103 a0001c0002t0002g0150 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0191 a0001c0002t0002g0237 a0001c0002t0002g0240 a0001c0002t0002g0246 a0001c0002t0002g0263 a0001c0002t0002g0267 a0001c0002t0002g0280 a0001c0002t0017g0205 a0006c0020t0002g0069	15	160	0.0938	18	c.161 others(37): Show c.1615+2691_1615+2708dupGTGTGTGTGTGTGTGTGT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding	10/12			chr20	TogoVar
TGM2_chr20_38122385_38170270	38149678	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0297 a0001c0004t0010g0297	1	224	0.0045	18	c.552 others(35): Show c.552+1243_552+1260dupTTTTTTTTTTTTTTTTTT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding	4/12			chr20	TogoVar
TGM2_chr20_38122385_38170270	38149690	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0126 a0001c0002t0011g0126	1	352	0.0028	18	c.552 others(35): Show c.552+1248_552+1249insGTTTTTTTTTTTTTTTTT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding	4/12			chr20	TogoVar
TGM2_chr20_38122385_38170270	38149692	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0202 a0001c0003t0002g0202	1	328	0.0030	18	c.552 others(35): Show c.552+1246_552+1247insGTTTTTTTTTTTTTTTTT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding	4/12			chr20	TogoVar

Search by Variant

Search

Search Results