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
THAP7_chr22_20994104_21007118	21004443	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	128	0.0078	-24	c.-25 others(35): Show c.-2556_-2533delAAAAAAAAAAAAAAAAAAAAAAAA	THAP7	ENSG00000184436.12	transcript	ENST00000215742.9	protein_coding		2326		chr22	TogoVar
THEG_chr19_356747_381026	376947	CCCCCGTG others(17): Show CCCCCGTGTGCCCCACCCAGCCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 NA19086.hp2 HG02572.hp1 NA19086.hp2	a0002 a0011 a0002 a0011	a0002c0007 a0011c0021 a0002c0007 a0011c0021	a0002c0007t0005 a0011c0021t0002 a0002c0007t0005 a0011c0021t0002	a0002c0007t0005g0030 a0011c0021t0002g0058 a0002c0007t0005g0030 a0011c0021t0002g0058	2	365	0.0055	-24	c.-10 others(34): Show c.-1001_-978delAGAGGCTGGGTGGGGCACACGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		922		chr19	TogoVar
THEG_chr19_356747_381026	377061	CCCCACCC others(17): Show CCCCACCCAGCCTCTCCCCCCTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	367	0.0027	-24	c.-11 others(35): Show c.-1115_-1092delCACAGGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1036		chr19	TogoVar
THEG_chr19_356747_381026	377190	CCCCACCC others(17): Show CCCCACCCAGCCTCTCCCCCCTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG02135.hp2 HG02165.hp1 others(1): Show HG00280.hp2 HG02135.hp2 HG02165.hp1 HG03710.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 a0001c0001t0001 a0001c0001t0002 a0003c0003t0002	a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0002g0098 others(1): Show a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0002g0098 a0003c0003t0002g0069	4	367	0.0109	-24	c.-12 others(35): Show c.-1244_-1221delCACAGGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1165		chr19	TogoVar
THEG_chr19_356747_381026	377398	CCCCACCC others(17): Show CCCCACCCAGCCTCTCCCCCCTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0030 a0001c0023t0030	a0001c0023t0030g0126 a0001c0023t0030g0126	1	367	0.0027	-24	c.-14 others(35): Show c.-1452_-1429delCACAGGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1373		chr19	TogoVar
THEM4_chr1_151865866_151914511	151885083	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18974.hp1 NA18961.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0117 a0001c0001t0004g0114 a0001c0001t0004g0117	2	25	0.0800	-24	c.557 others(41): Show c.557+3166_557+3189delTAAATAAATAAATAAATAAATAAA	THEM4	ENSG00000159445.13	transcript	ENST00000368814.8	protein_coding	4/5			chr1	TogoVar
THEM6_chr8_142722223_142741927	142732184	ATATATAT others(17): Show ATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	412	0.0024	-24	c.514 others(41): Show c.514-3140_514-3117delATATATATATATATATATATATTT	THEM6	ENSG00000130193.8	transcript	ENST00000336138.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
THEMIS_chr6_127703200_127906058	127729140	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02886.hp1 HG02895.hp2 others(1): Show HG01981.hp2 HG02886.hp1 HG02895.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 others(1): Show a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0002c0001t0001g0074	4	21	0.1905	-24	c.175 others(43): Show c.1759-9341_1759-9318delGAGAGAGAGAGAGAGAGAGAGAGA	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
THOC2_chrX_123595569_123738052	123737222	CTTTTCTT others(17): Show CTTTTCTTTTTCTTTTTCTTTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00639.hp1 others(12): Show HG00140.hp1 HG00280.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG02109.hp1 HG02280.hp2 HG02615.hp2 HG02683.hp1 HG03098.hp1 HG03239.hp1 HG03491.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0042 a0001c0001t0001g0095 a0001c0001t0001g0096 others(12): Show a0001c0001t0001g0042 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0116 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0002c0006t0001g0148	15	33	0.4545	-24	c.-42 others(35): Show c.-4224_-4201delAGAAAAAGAAAAAGAAAAAGAAAA	THOC2	ENSG00000125676.20	transcript	ENST00000245838.13	protein_coding		4171		chrX	TogoVar
THRAP3_chr1_36219443_36310357	36241385	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0014 a0003c0004t0014	a0003c0004t0014g0012 a0003c0004t0014g0012	1	217	0.0046	-24	c.-13 others(45): Show c.-135+16901_-135+16924delTATATATATATATATATATATATA	THRAP3	ENSG00000054118.15	transcript	ENST00000354618.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
THRA_chr17_40057965_40098002	40082191	GTTTTACT others(17): Show GTTTTACTTGGATTTCCTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03195.hp2 HG01081.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0215 a0001c0001t0023g0216 a0001c0001t0023g0215 a0001c0001t0023g0216	2	356	0.0056	-24	c.223 others(41): Show c.223-1639_223-1616delACTTGGATTTCCTTTTTTTTTTTT	THRA	ENSG00000126351.13	transcript	ENST00000450525.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
THRB_chr3_24112153_24499850	24254199	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA19010.hp1 NA18991.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0045 a0001c0001t0002 a0001c0001t0045	a0001c0001t0002g0134 a0001c0001t0045g0076 a0001c0001t0002g0134 a0001c0001t0045g0076	2	8	0.2500	-24	c.-42 others(43): Show c.-42-25222_-42-25199delTTTTTTTTTTTTTTTTTTTTTTTT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	3/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24269277	CCACACAC others(17): Show CCACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0080 a0001c0001t0013g0080	1	19	0.0526	-24	c.-43 others(43): Show c.-43+27925_-43+27948delTGTGTGTGTGTGTGTGTGTGTGTG	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	3/10			chr3	TogoVar
THSD4_chr15_71110471_71788383	71172682	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0009 a0001c0001t0028g0009	1	26	0.0385	-24	c.99+ others(41): Show c.99+17779_99+17802delATATATATATATATATATATATAT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71199869	GTGTGTGT others(17): Show GTGTGTGTGTGGTGCATGTGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA20905.hp1 HG00642.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0011 a0001c0006t0007 a0001c0001t0011 a0001c0006t0007	a0001c0001t0011g0028 a0001c0006t0007g0030 a0001c0001t0011g0028 a0001c0006t0007g0030	2	116	0.0172	-24	c.100 others(43): Show c.100-15143_100-15120delTATGTGTGTGTGGTGCATGTGTGG	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71214146	AATCAGCA others(17): Show AATCAGCACTCTGTAAAATGGACCG	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0030 a0001c0006t0007g0030	1	116	0.0086	-24	c.100 others(39): Show c.100-865_100-842delGATCAGCACTCTGTAAAATGGACC	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71561863	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01169.hp1 HG01361.hp1 others(6): Show HG00642.hp1 HG01169.hp1 HG01361.hp1 HG01978.hp2 HG02004.hp2 HG02735.hp1 HG03669.hp2 HG04228.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0036 a0001c0003t0009 a0001c0004t0026 a0001c0004t0029 a0001c0004t0044	a0001c0001t0001g0087 a0001c0001t0002g0075 a0001c0001t0009g0085 others(6): Show a0001c0001t0001g0087 a0001c0001t0002g0075 a0001c0001t0009g0085 a0001c0001t0011g0028 a0001c0001t0036g0089 a0001c0003t0009g0057 a0001c0004t0026g0061 a0001c0004t0029g0086 a0001c0004t0044g0029	9	76	0.1184	-24	c.115 others(45): Show c.1153-98633_1153-98610delCACACACACACACACACACACACA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71561897	CACACACA others(17): Show CACACACACACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03453.hp2 HG02818.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0012 a0001c0007t0001 a0001c0001t0012 a0001c0007t0001	a0001c0001t0012g0049 a0001c0007t0001g0008 a0001c0001t0012g0049 a0001c0007t0001g0008	2	110	0.0182	-24	c.115 others(45): Show c.1153-98628_1153-98605delACACACACACACACACACAAACAC	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71564670	TTATAACA others(17): Show TTATAACATATAATACAATATATAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01496.hp1 others(5): Show HG00099.hp1 HG00642.hp2 HG01496.hp1 HG02004.hp1 HG02735.hp2 HG02809.hp1 HG03654.hp2 NA18966.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0005 a0003c0010	a0001c0001t0001 a0001c0001t0011 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0002 a0001c0006t0001 a0002c0005t0004 a0003c0010t0015 a0003c0010t0027	a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0011g0001 others(5): Show a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0011g0001 a0001c0002t0002g0073 a0001c0006t0001g0063 a0002c0005t0004g0107 a0003c0010t0015g0002 a0003c0010t0027g0088	8	116	0.0690	-24	c.115 others(45): Show c.1153-95836_1153-95813delGTATAACATATAATACAATATATA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71593423	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG01109.hp1 others(4): Show HG00280.hp1 HG00621.hp2 HG01109.hp1 HG02486.hp1 HG03130.hp2 HG03579.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0015 a0001c0001 a0001c0002 a0002c0015	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001 a0001c0002t0016 a0002c0015t0007	a0001c0001t0001g0024 a0001c0001t0001g0096 a0001c0001t0006g0080 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0096 a0001c0001t0006g0080 a0001c0001t0010g0074 a0001c0002t0001g0023 a0001c0002t0016g0084 a0002c0015t0007g0092	7	95	0.0737	-24	c.115 others(45): Show c.1153-67079_1153-67056delAAAAAAAAAAAAAAAAAAAAAAAA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71682855	ACTTTCTT others(17): Show ACTTTCTTTCTTTCTTTCTTTCTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00621.hp1 others(28): Show HG00099.hp1 HG00280.hp1 HG00621.hp1 HG00621.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01255.hp2 HG01346.hp1 HG01496.hp2 HG01978.hp2 HG02004.hp2 HG02055.hp2 HG02300.hp1 HG02486.hp1 HG02723.hp2 HG02818.hp1 HG03041.hp1 HG03139.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG06807.hp2 NA18981.hp1 NA19009.hp1 NA20129.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0002c0005 a0002c0011 a0002c0012 a0004c0018 a0005c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0039 a0001c0002t0006 a0001c0002t0009 a0001c0002t0014 a0001c0003t0001 a0001c0004t0025 a0001c0004t0026 a0001c0004t0044 a0001c0006t0017 a0001c0007t0015 a0001c0008t0005 a0001c0008t0007 a0002c0005t0002 a0002c0005t0003 a0002c0005t0004 a0002c0011t0004 a0002c0012t0004 a0004c0018t0006 a0005c0022t0032	a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0031 others(28): Show a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0002g0102 a0001c0001t0006g0080 a0001c0001t0010g0053 a0001c0001t0010g0074 a0001c0001t0012g0049 a0001c0001t0039g0011 a0001c0002t0006g0026 a0001c0002t0006g0066 a0001c0002t0009g0091 a0001c0002t0014g0007 a0001c0003t0001g0034 a0001c0004t0025g0069 a0001c0004t0026g0061 a0001c0004t0044g0029 a0001c0006t0017g0095 a0001c0007t0015g0027 a0001c0008t0005g0083 a0001c0008t0007g0081 a0002c0005t0002g0044 a0002c0005t0003g0114 a0002c0005t0004g0065 a0002c0011t0004g0048 a0002c0012t0004g0047 a0004c0018t0006g0058 a0005c0022t0032g0014	31	101	0.3069	-24	c.135 others(45): Show c.1357+22153_1357+22176delTCTTTCTTTCTTTCTTTCTTTCTT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71727569	TATATATA others(17): Show TATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0028 a0001c0001t0011g0028	1	114	0.0088	-24	c.135 others(41): Show c.1358-978_1358-955delTATATATATATATATATACACACA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71727573	TATATATA others(17): Show TATATATATATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0017	a0001c0004t0017g0032 a0001c0004t0017g0032	1	113	0.0088	-24	c.135 others(41): Show c.1358-974_1358-951delTATATATATATATACACACACACA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD7A_chr7_11365365_11837198	11509689	GCGGGTGC others(17): Show GCGGGTGCCTGTAGTCCCAGCTACT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0028 a0001c0016t0028	a0001c0016t0028g0055 a0001c0016t0028g0055	1	177	0.0056	-24	c.182 others(45): Show c.1823-27731_1823-27708delAGTAGCTGGGACTACAGGCACCCG	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	6/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11796033	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00673.hp1 others(32): Show HG00597.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01069.hp2 HG01109.hp2 HG01952.hp1 HG02027.hp2 HG02083.hp2 HG02145.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp2 HG03209.hp1 HG03540.hp2 HG03579.hp1 HG03942.hp1 NA18951.hp2 NA18968.hp2 NA18971.hp1 NA18989.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19091.hp2 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0014	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0001c0016 a0001c0029 a0001c0042 a0001c0052 a0001c0061 a0002c0007 a0002c0008 a0002c0009 a0002c0031 a0003c0035 a0004c0047 a0006c0015 a0007c0064 a0014c0034	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(29): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0012 a0001c0002t0016 a0001c0003t0013 a0001c0006t0001 a0001c0010t0030 a0001c0016t0029 a0001c0029t0046 a0001c0042t0051 a0001c0052t0044 a0001c0061t0013 a0002c0007t0001 a0002c0008t0002 a0002c0008t0003 a0002c0008t0018 a0002c0009t0003 a0002c0031t0010 a0003c0035t0003 a0004c0047t0005 a0006c0015t0003 a0007c0064t0008 a0014c0034t0014	a0001c0001t0002g0082 a0001c0001t0004g0072 a0001c0001t0006g0031 others(32): Show a0001c0001t0002g0082 a0001c0001t0004g0072 a0001c0001t0006g0031 a0001c0001t0006g0144 a0001c0001t0007g0071 a0001c0001t0015g0076 a0001c0001t0019g0059 a0001c0001t0021g0078 a0001c0002t0001g0081 a0001c0002t0005g0102 a0001c0002t0006g0142 a0001c0002t0006g0149 a0001c0002t0007g0068 a0001c0002t0012g0067 a0001c0002t0016g0130 a0001c0003t0013g0136 a0001c0006t0001g0034 a0001c0010t0030g0056 a0001c0016t0029g0066 a0001c0029t0046g0084 a0001c0042t0051g0152 a0001c0052t0044g0073 a0001c0061t0013g0070 a0002c0007t0001g0123 a0002c0008t0002g0020 a0002c0008t0002g0030 a0002c0008t0003g0075 a0002c0008t0018g0174 a0002c0009t0003g0032 a0002c0031t0010g0171 a0003c0035t0003g0126 a0004c0047t0005g0122 a0006c0015t0003g0129 a0007c0064t0008g0178 a0014c0034t0014g0060	35	63	0.5556	-24	c.190 others(43): Show c.190+35700_190+35723delATATATATATATATATATATATAT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7B_chr2_136760545_137682718	137605648	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02109.hp2 HG02280.hp2 others(9): Show HG00438.hp2 HG02109.hp2 HG02280.hp2 HG02965.hp2 HG02976.hp1 HG03195.hp1 HG03540.hp2 HG03579.hp1 HG04199.hp1 NA18993.hp2 NA19057.hp1 NA20300.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0008 a0013 a0018 a0021 a0022	a0001c0005 a0002c0044 a0004c0055 others(7): Show a0001c0005 a0002c0044 a0004c0055 a0005c0033 a0005c0057 a0008c0042 a0013c0015 a0018c0043 a0021c0041 a0022c0022	a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 others(9): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0002c0044t0007 a0004c0055t0003 a0005c0033t0004 a0005c0057t0013 a0008c0042t0006 a0013c0015t0005 a0018c0043t0001 a0021c0041t0007 a0022c0022t0003	a0001c0005t0001g0021 a0001c0005t0002g0022 a0001c0005t0003g0077 others(9): Show a0001c0005t0001g0021 a0001c0005t0002g0022 a0001c0005t0003g0077 a0002c0044t0007g0059 a0004c0055t0003g0076 a0005c0033t0004g0016 a0005c0057t0013g0014 a0008c0042t0006g0043 a0013c0015t0005g0098 a0018c0043t0001g0033 a0021c0041t0007g0007 a0022c0022t0003g0097	12	26	0.4615	-24	c.342 others(45): Show c.3424-10511_3424-10488delTTTTTTTTTTTTTTTTTTTTTTTT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	17/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TIAL1_chr10_119568465_119601964	119571914	GAATGGCA others(17): Show GAATGGCACGGGGGTTGGGAGTGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0188 a0001c0001t0007g0188	1	396	0.0025	-24	c.37 others(35): Show c.3727_*3750delTTCACTCCCAACCCCCGTGCCATT	TIAL1	ENSG00000151923.18	transcript	ENST00000436547.7	protein_coding		1550		chr10	TogoVar
TIAL1_chr10_119568465_119601964	119590746	GAGACAGA others(17): Show GAGACAGAGAGAAAGAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01981.hp1 HG03540.hp1 others(1): Show HG00735.hp2 HG01981.hp1 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0182 others(1): Show a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0182 a0001c0001t0004g0183	4	385	0.0104	-24	c.33- others(39): Show c.33-2522_33-2499delTTCTTTCTCTCTTTCTCTCTGTCT	TIAL1	ENSG00000151923.18	transcript	ENST00000436547.7	protein_coding	1/11			chr10	TogoVar
TIAL1_chr10_119568465_119601964	119590762	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02027.hp2 HG02080.hp2 others(32): Show HG00639.hp2 HG02027.hp2 HG02080.hp2 HG02132.hp2 HG02602.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18959.hp1 NA18966.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19002.hp1 NA19011.hp2 NA19030.hp1 NA19057.hp1 NA19062.hp1 NA19068.hp2 NA19075.hp1 NA19090.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0064 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0003g0283 a0001c0001t0004g0050 a0001c0001t0004g0282 a0001c0001t0005g0007 a0001c0001t0005g0059 a0001c0001t0005g0072 a0001c0001t0005g0092	35	190	0.1842	-24	c.33- others(39): Show c.33-2538_33-2515delTTCTTTCTTTCTTTCTTTCTTTCT	TIAL1	ENSG00000151923.18	transcript	ENST00000436547.7	protein_coding	1/11			chr10	TogoVar
TIAM1_chr21_31113418_31349261	31181753	CTTCTTTT others(17): Show CTTCTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02895.hp1 others(7): Show HG01891.hp2 HG02451.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03130.hp1 HG03225.hp2 NA18522.hp2 NA19240.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0003c0005	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0002t0004 a0001c0006t0001 a0003c0005t0033	a0001c0001t0002g0118 a0001c0001t0006g0059 a0001c0001t0006g0060 others(7): Show a0001c0001t0002g0118 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0008g0061 a0001c0001t0008g0090 a0001c0001t0008g0169 a0001c0002t0004g0104 a0001c0006t0001g0063 a0001c0006t0001g0064 a0003c0005t0033g0209	10	203	0.0493	-24	c.288 others(41): Show c.2887+644_2887+667delAAAAAAAAAAAAAAAAAAAAAGAA	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	15/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31181756	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18942.hp1 HG03704.hp1 NA18942.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0003 a0002c0004t0007 a0002c0003t0003 a0002c0004t0007	a0002c0003t0003g0040 a0002c0004t0007g0206 a0002c0003t0003g0040 a0002c0004t0007g0206	2	25	0.0800	-24	c.288 others(41): Show c.2887+641_2887+664delAAAAAAAAAAAAAAAAAAAAAAAA	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	15/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31210534	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	153	0.0065	-24	c.221 others(41): Show c.2218-343_2218-320delCTTTCTTTCTTTCTTTCTTTCTTT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	10/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31228220	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	132	0.0076	-24	c.158 others(43): Show c.1585-2294_1585-2271delTTTTTTTTTTTTTTTTTTTTTTTT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	6/27			chr21	TogoVar
TIAM2_chr6_154990315_155262723	155025821	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp1 HG02976.hp2 others(2): Show HG01109.hp1 HG01496.hp1 HG02976.hp2 HG03098.hp1 NA19043.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0010	a0001c0002 a0002c0015 a0005c0012 others(1): Show a0001c0002 a0002c0015 a0005c0012 a0010c0058	a0001c0002t0012 a0002c0015t0002 a0005c0012t0006 others(2): Show a0001c0002t0012 a0002c0015t0002 a0005c0012t0006 a0005c0012t0018 a0010c0058t0005	a0001c0002t0012g0062 a0002c0015t0002g0208 a0005c0012t0006g0211 others(2): Show a0001c0002t0012g0062 a0002c0015t0002g0208 a0005c0012t0006g0211 a0005c0012t0018g0213 a0010c0058t0005g0085	5	22	0.2273	-24	c.-20 others(45): Show c.-209+30361_-209+30384delCACACACACACACACACACACACA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155028305	ATGTACTG others(17): Show ATGTACTGTGTTACATATATACTAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp2 HG02895.hp1 others(3): Show HG02258.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03471.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0012c0019	a0001c0001t0029 a0001c0001t0030 a0001c0004t0002 others(2): Show a0001c0001t0029 a0001c0001t0030 a0001c0004t0002 a0001c0005t0038 a0012c0019t0001	a0001c0001t0029g0049 a0001c0001t0030g0070 a0001c0004t0002g0215 others(3): Show a0001c0001t0029g0049 a0001c0001t0030g0070 a0001c0004t0002g0215 a0001c0005t0038g0069 a0012c0019t0001g0073 a0012c0019t0001g0074	6	228	0.0263	-24	c.-20 others(45): Show c.-209+32814_-209+32837delTGTACTGTGTTACATATATACTAC	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26			chr6	TogoVar
TIAM2_chr6_154990315_155262723	155172641	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp2 HG01243.hp1 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0033 a0001c0002t0001 a0001c0002t0033	a0001c0002t0001g0091 a0001c0002t0033g0005 a0001c0002t0001g0091 a0001c0002t0033g0005	2	204	0.0098	-24	c.236 others(43): Show c.2362-4152_2362-4129delATATATATATATATATATATATAT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TICAM2_chr5_115573496_115607479	115575083	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01074.hp1 others(7): Show HG01069.hp1 HG01071.hp2 HG01074.hp1 HG02559.hp1 HG02615.hp2 HG02647.hp2 HG02809.hp1 NA19043.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0025 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0025 a0002c0002t0011	a0001c0001t0002g0007 a0001c0001t0002g0059 a0001c0001t0006g0031 others(6): Show a0001c0001t0002g0007 a0001c0001t0002g0059 a0001c0001t0006g0031 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0025g0128 a0002c0002t0011g0017	10	34	0.2941	-24	c.54 others(35): Show c.5442_*5465delATATATATATATATATATATATAT	TICAM2	ENSG00000243414.6	transcript	ENST00000427199.3	protein_coding		3412		chr5	TogoVar
TIGD2_chr4_89106533_89119901	89108551	CACAGAGA others(17): Show CACAGAGAGAGAGAGAGAGAGAGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00544.hp2 others(128): Show HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG04184.hp2 NA18522.hp1 NA18612.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18982.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19059.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0013 others(2): Show a0001c0001 a0001c0002 a0001c0013 a0003c0004 a0007c0010	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0002t0001 a0001c0013t0001 a0003c0004t0001 a0003c0004t0011 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0006g0001 a0001c0001t0008g0001 others(7): Show a0001c0001t0001g0001 a0001c0001t0006g0001 a0001c0001t0008g0001 a0001c0001t0010g0001 a0001c0001t0012g0001 a0001c0002t0001g0001 a0001c0013t0001g0001 a0003c0004t0001g0001 a0003c0004t0011g0001 a0007c0010t0001g0001	131	275	0.4764	-24	c.-42 others(35): Show c.-4240_-4217delACAGAGAGAGAGAGAGAGAGAGAG	TIGD2	ENSG00000180346.5	transcript	ENST00000603357.3	protein_coding		2981		chr4	TogoVar
TIMM17A_chr1_201950503_201975664	201972603	TGCCACAT others(17): Show TGCCACATTGTCAAGGCTGATCTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	466	0.0021	-24	c.30 others(35): Show c.3050_*3073delGCCACATTGTCAAGGCTGATCTTG	TIMM17A	ENSG00000134375.11	transcript	ENST00000367287.5	protein_coding		1940		chr1	TogoVar
TIMM23B_chr10_49937053_49979850	49977207	AAAAAACC others(17): Show AAAAAACCACAAAAAGGGATAATTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	374	0.0027	-24	c.41 others(35): Show c.4144_*4167delAAAAACCACAAAAAGGGATAATTG	TIMM23B	ENSG00000204152.14	transcript	ENST00000651259.3	protein_coding		2358		chr10	TogoVar
TINAGL1_chr1_31571515_31592686	31580189	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp2 HG01891.hp1 others(1): Show HG01074.hp1 HG01884.hp2 HG01891.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0178 a0001c0001t0001g0189 others(1): Show a0001c0001t0001g0096 a0001c0001t0001g0178 a0001c0001t0001g0189 a0001c0001t0001g0190	4	437	0.0092	-24	c.374 others(39): Show c.374+936_374+959delCTCTCTCTCTGTCTCTCTCTCTCT	TINAGL1	ENSG00000142910.16	transcript	ENST00000271064.12	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
TINAGL1_chr1_31571515_31592686	31580203	CTCTCTCT others(17): Show CTCTCTCTCTGTCTCTCTCTCTCTG	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	398	0.0025	-24	c.374 others(39): Show c.374+970_374+993delGTCTCTCTCTCTCTGTCTCTCTCT	TINAGL1	ENSG00000142910.16	transcript	ENST00000271064.12	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
TINAG_chr6_54303441_54395142	54372727	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02071.hp2 HG02074.hp2 others(7): Show HG02027.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 NA18941.hp1 NA18948.hp1 NA18956.hp1 NA18957.hp2 NA19070.hp1 NA19085.hp2	a0001 a0020 a0001 a0020	a0001c0001 a0020c0019 a0001c0001 a0020c0019	a0001c0001t0001 a0020c0019t0001 a0001c0001t0001 a0020c0019t0001	a0001c0001t0001g0011 a0001c0001t0001g0210 a0001c0001t0001g0212 others(6): Show a0001c0001t0001g0011 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0020c0019t0001g0211	10	72	0.1389	-24	c.125 others(43): Show c.1251-7777_1251-7754delTATATATATATATATATATATATA	TINAG	ENSG00000137251.16	transcript	ENST00000259782.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TJAP1_chr6_43472570_43511554	43501738	ACACACAC others(17): Show ACACACACACACACACACACACTCT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	286	0.0035	-24	c.290 others(37): Show c.290+53_290+76delACACACACACACACACACACTCTC	TJAP1	ENSG00000137221.14	transcript	ENST00000372449.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TJP3_chr19_3703384_3755813	3718210	AAAGTGTG others(17): Show AAAGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp1 HG02976.hp2 others(1): Show HG01884.hp1 HG02723.hp1 HG02976.hp2 HG03516.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0003 a0002c0008t0002 a0002c0008t0003	a0002c0008t0002g0099 a0002c0008t0002g0100 a0002c0008t0003g0035 others(1): Show a0002c0008t0002g0099 a0002c0008t0002g0100 a0002c0008t0003g0035 a0002c0008t0003g0060	4	383	0.0104	-24	c.-10 others(41): Show c.-10+9650_-10+9673delAAGTGTGTGTGTGTGTGTGTGTGT	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	1/20			chr19	TogoVar
TKTL1_chrX_154290795_154335350	154303177	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0243 a0001c0001t0010g0243	1	94	0.0106	-24	c.135 others(41): Show c.135-2099_135-2076delATTTATTTATTTATTTATTTATTT	TKTL1	ENSG00000007350.18	transcript	ENST00000369915.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
TKTL1_chrX_154290795_154335350	154328545	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02280.hp1 others(7): Show HG01109.hp1 HG01884.hp1 HG02280.hp1 HG02572.hp1 HG02615.hp1 HG02970.hp2 HG03130.hp1 HG03139.hp1 HG03453.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0216 a0001c0001t0001g0234 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0216 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0249 a0001c0001t0002g0029 a0001c0001t0002g0091	10	26	0.3846	-24	c.161 others(41): Show c.1618+611_1618+634delAAAAAAAAAAAAAAAAAAAAAAAA	TKTL1	ENSG00000007350.18	transcript	ENST00000369915.8	protein_coding	12/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
TLE2_chr19_2992644_3034280	2998237	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0348 a0001c0003t0001g0348	1	228	0.0044	-24	c.212 others(41): Show c.2125-306_2125-283delCACACACACACACACACACACACA	TLE2	ENSG00000065717.16	transcript	ENST00000262953.11	protein_coding	19/19			chr19	TogoVar
TLE2_chr19_2992644_3034280	3031342	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(96): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02300.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03195.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03927.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18941.hp1 NA18945.hp1 NA18947.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18981.hp2 NA18989.hp2 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19074.hp2 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0010 a0001c0017 a0001c0020 a0002c0004 a0004c0021 a0006c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0002t0001 a0001c0003t0001 a0001c0005t0002 a0001c0007t0001 a0001c0010t0001 a0001c0017t0001 a0001c0020t0001 a0002c0004t0001 a0004c0021t0001 a0006c0023t0001	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(92): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0055 a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0001g0127 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0357 a0001c0001t0001g0374 a0001c0001t0002g0062 a0001c0001t0002g0165 a0001c0001t0002g0241 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0013g0380 a0001c0002t0001g0076 a0001c0002t0001g0178 a0001c0002t0001g0219 a0001c0002t0001g0245 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0264 a0001c0002t0001g0268 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0275 a0001c0002t0001g0289 a0001c0002t0001g0292 a0001c0002t0001g0295 a0001c0002t0001g0306 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0318 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0003t0001g0365 a0001c0005t0002g0344 a0001c0007t0001g0280 a0001c0007t0001g0312 a0001c0010t0001g0224 a0001c0017t0001g0303 a0001c0020t0001g0373 a0002c0004t0001g0011 a0002c0004t0001g0282 a0004c0021t0001g0283 a0006c0023t0001g0230	99	177	0.5593	-24	c.-24 others(35): Show c.-2462_-2439delCACACACACACACACACACACACA	TLE2	ENSG00000065717.16	transcript	ENST00000262953.11	protein_coding		2063		chr19	TogoVar
TLE4_chr9_79566965_79731882	79606187	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18939.hp1 NA18987.hp1 NA18612.hp1 NA18939.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0104 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0104	3	23	0.1304	-24	c.253 others(41): Show c.253-6454_253-6431delTTTTTTTTTTTTTTTTTTTTTTTT	TLE4	ENSG00000106829.21	transcript	ENST00000376552.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr9	TogoVar

Search by Variant

Search

Search Results