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
TRAPPC9_chr8_139722725_140462744	140129649	GATGGTGA others(33): Show GATGGTGAGAGCCAGCTTTCTCCCCGAGAGAAAAGGAAGTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp2 HG03195.hp1 HG02109.hp1 HG02717.hp2 HG03195.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0015 a0005c0021 a0001c0002 a0001c0015 a0005c0021	a0001c0002t0023 a0001c0015t0032 a0005c0021t0002 a0001c0002t0023 a0001c0015t0032 a0005c0021t0002	a0001c0002t0023g0019 a0001c0015t0032g0066 a0005c0021t0002g0029 a0001c0002t0023g0019 a0001c0015t0032g0066 a0005c0021t0002g0029	3	96	0.0313	-40	c.255 others(61): Show c.2556+91770_2556+91809delAACTTCCTTTTCTCTCGGGGAGAA AGCTGGCTCTCACCAT	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	140157065	TTTCCATT others(33): Show TTTCCATTCAAAAGCCTCCCTTTTCCATTCAGAAGCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp1 HG00738.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0009 a0001c0004t0001 a0001c0001t0009 a0001c0004t0001	a0001c0001t0009g0072 a0001c0004t0001g0086 a0001c0001t0009g0072 a0001c0004t0001g0086	2	96	0.0208	-40	c.255 others(61): Show c.2556+64354_2556+64393delGGGAGGCTTCTGAATGGAAAAGGG AGGCTTTTGAATGGAA	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TREX1_chr3_48461230_48472645	48468965	AGGACACA others(33): Show AGGACACACACAGCACACATGGGGCGTAAGGAACCGTGCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	368	0.0027	-40	c.13 others(51): Show c.1366_*1405delGGACACACACAGCACACATGGGGCGTAAGGAACC GTGCCT	TREX1	ENSG00000213689.14	transcript	ENST00000625293.3	protein_coding		1321		chr3	TogoVar
TRIM13_chr13_49992042_50023467	50015086	AAAAAAAA others(33): Show AAAAAAAAAATATATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0194 a0001c0001t0194	a0001c0001t0194g0194 a0001c0001t0194g0194	1	381	0.0026	-40	c.19 others(51): Show c.1924_*1963delAAAAAAAATATATATATATATATATATATATATA TATATA	TRIM13	ENSG00000204977.10	transcript	ENST00000378182.4	protein_coding	2/2	1924	INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM13_chr13_49992042_50023467	50015094	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0178 a0001c0001t0178	a0001c0001t0178g0190 a0001c0001t0178g0190	1	311	0.0032	-40	c.19 others(51): Show c.1948_*1987delTATATATATATATATATATATATATATATATATA TATATA	TRIM13	ENSG00000204977.10	transcript	ENST00000378182.4	protein_coding	2/2	1948	INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM28_chr19_58539064_58555715	58542071	TCCCCACA others(33): Show TCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	400	0.0025	-40	c.-26 others(51): Show c.-2686_-2647delCCCCACACAGACCCTGCTTCCCTCCTCAGACAGG ATTCTC	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		1992		chr19	TogoVar
TRIM56_chr7_101080481_101102967	101092471	CCAGCCGC others(33): Show CCAGCCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCTGG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0119 a0001c0002t0119	a0001c0002t0119g0005 a0001c0002t0119g0005	1	377	0.0027	-40	c.29 others(51): Show c.2929_*2968delTGGCAGCCGCCCCGTCTGAGAAGTGAGGAGCCCC TCCGCC	TRIM56	ENSG00000169871.13	transcript	ENST00000306085.11	protein_coding	3/3	2929	INFO_REALIGN_3_PRIME	chr7	TogoVar
TRIM56_chr7_101080481_101102967	101092780	GCCCCGTC others(33): Show GCCCCGTCTGGGAGGTGAGGAGCCCCTCTGCCCGGCCACCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0146 a0001c0018t0146	a0001c0018t0146g0014 a0001c0018t0146g0014	1	418	0.0024	-40	c.32 others(51): Show c.3217_*3256delAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGG GAGGTG	TRIM56	ENSG00000169871.13	transcript	ENST00000306085.11	protein_coding	3/3	3217	INFO_REALIGN_3_PRIME	chr7	TogoVar
TRIO_chr5_14138342_14515204	14511657	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	187	0.0053	-40	c.32 others(51): Show c.3236_*3275delTCTCTCTCTCTCTCTCTCTCTATATATATATATA TATATA	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding		1454		chr5	TogoVar
TRIO_chr5_14138342_14515204	14511659	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	184	0.0054	-40	c.32 others(51): Show c.3238_*3277delTCTCTCTCTCTCTCTCTCTATATATATATATATA TATATA	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding		1456		chr5	TogoVar
TRIO_chr5_14138342_14515204	14511661	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01258.hp1 HG02109.hp1 others(4): Show HG01099.hp2 HG01258.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG03490.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0013	a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 others(3): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 a0001c0004t0002 a0001c0005t0002 a0001c0013t0002	a0001c0001t0002g0084 a0001c0002t0002g0054 a0001c0002t0002g0057 others(4): Show a0001c0001t0002g0084 a0001c0002t0002g0054 a0001c0002t0002g0057 a0001c0003t0002g0129 a0001c0004t0002g0175 a0001c0005t0002g0167 a0001c0013t0002g0030	7	185	0.0378	-40	c.32 others(51): Show c.3240_*3279delTCTCTCTCTCTCTCTCTATATATATATATATATA TATATA	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding		1458		chr5	TogoVar
TRIO_chr5_14138342_14515204	14511663	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTATATATATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG03041.hp2 HG03704.hp2 HG01175.hp2 HG03041.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0002 a0001c0014t0002 a0001c0002t0002 a0001c0014t0002	a0001c0002t0002g0033 a0001c0002t0002g0041 a0001c0014t0002g0103 a0001c0002t0002g0033 a0001c0002t0002g0041 a0001c0014t0002g0103	3	180	0.0167	-40	c.32 others(51): Show c.3242_*3281delTCTCTCTCTCTCTCTATATATATATATATATATA TATATA	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding		1460		chr5	TogoVar
TRIO_chr5_14138342_14515204	14511665	CTCTCTCT others(33): Show CTCTCTCTCTCTCTATATATATATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01074.hp1 NA19000.hp1 HG00140.hp1 HG01074.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0015 a0001c0002t0002 a0001c0001t0002 a0001c0001t0015 a0001c0002t0002	a0001c0001t0002g0179 a0001c0001t0015g0152 a0001c0002t0002g0034 a0001c0001t0002g0179 a0001c0001t0015g0152 a0001c0002t0002g0034	3	178	0.0169	-40	c.32 others(51): Show c.3244_*3283delTCTCTCTCTCTCTATATATATATATATATATATA TATATA	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding		1462		chr5	TogoVar
TRMT9B_chr8_12940673_13034777	12996936	CTTTATTT others(33): Show CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18952.hp2 HG03098.hp1 NA18952.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0168 a0005c0008t0087 a0001c0001t0168 a0005c0008t0087	a0001c0001t0168g0125 a0005c0008t0087g0346 a0001c0001t0168g0125 a0005c0008t0087g0346	2	28	0.0714	-40	c.-2+ others(55): Show c.-2+5939_-2+5978delATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTT	TRMT9B	ENSG00000250305.9	transcript	ENST00000524591.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
TRPC1_chr3_142719034_142812888	142763977	TATATATA others(33): Show TATATATACACATACATACATACATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp2 HG02630.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0019 a0001c0003t0006g0019	2	330	0.0061	-40	c.633 others(59): Show c.633-13654_633-13615delATATATACACATACATACATACATAT ATATATATATATAA	TRPC1	ENSG00000144935.17	transcript	ENST00000476941.6	protein_coding	4/12			chr3	TogoVar
TRPM2_chr21_44348621_44447644	44396413	CTTGTGGA others(33): Show CTTGTGGAGGGCTGTGGAGGGATGTGGAGGCTGTGGAGGGG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0008 a0008c0009t0008	a0008c0009t0008g0043 a0008c0009t0008g0043	1	23	0.0435	-40	c.193 others(57): Show c.1932+864_1932+903delTGTGGAGGGCTGTGGAGGGATGTGGAGG CTGTGGAGGGGT	TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr21	TogoVar
TRPV1_chr17_3560446_3614411	3564353	CGCTCCTC others(33): Show CGCTCCTCACTTCCCAGTAGGGGCAGCTGCCGGGTGGAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02647.hp2 HG01109.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0009 a0001c0001t0014g0017 a0001c0001t0014g0009 a0001c0001t0014g0017	2	390	0.0051	-40	c.24 others(51): Show c.2422_*2461delCCCTCCACCCGGCAGCTGCCCCTACTGGGAAGTG AGGAGC	TRPV1	ENSG00000196689.13	transcript	ENST00000572705.2	protein_coding		1092		chr17	TogoVar
TRPV5_chr7_142903101_142938746	142924301	CATATATA others(33): Show CATATATATATACACACATATACATGTATATATATACATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp2 HG01256.hp1 others(12): Show HG00642.hp1 HG01074.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01978.hp1 HG02647.hp1 HG02735.hp1 HG02738.hp1 HG03669.hp2 HG04184.hp2 HG04199.hp1 NA18968.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0070 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0070 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0143 a0001c0001t0002g0120	15	159	0.0943	-40	c.112 others(59): Show c.1122+1188_1122+1227delATATGTATATATATACATGTATATGT GTGTATATATATAT	TRPV5	ENSG00000127412.7	transcript	ENST00000265310.6	protein_coding	8/14			chr7	TogoVar
TRPV5_chr7_142903101_142938746	142924337	CATATATA others(33): Show CATATATATATATATAGACATATACATGTATATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG01081.hp1 others(34): Show HG00597.hp1 HG00639.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01169.hp2 HG01255.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01978.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp2 HG03579.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18982.hp1 NA19043.hp1 NA19079.hp2 NA19084.hp1 NA21309.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0002c0004 a0006c0008 others(1): Show a0001c0001 a0002c0004 a0006c0008 a0007c0010	a0001c0001t0001 a0002c0004t0001 a0006c0008t0002 others(1): Show a0001c0001t0001 a0002c0004t0001 a0006c0008t0002 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0155 a0002c0004t0001g0013 a0002c0004t0001g0136 a0002c0004t0001g0137 a0002c0004t0001g0138 a0002c0004t0001g0140 a0002c0004t0001g0156 a0006c0008t0002g0014 a0007c0010t0001g0082 a0007c0010t0001g0129	37	242	0.1529	-40	c.112 others(59): Show c.1122+1152_1122+1191delATGTATATATATACATGTATATGTCT ATATATATATATAT	TRPV5	ENSG00000127412.7	transcript	ENST00000265310.6	protein_coding	8/14			chr7	TogoVar
TSNARE1_chr8_142207080_142408182	142217303	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp2 HG01109.hp2 others(25): Show HG00140.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01517.hp2 HG01891.hp1 HG01952.hp2 HG02055.hp1 HG02145.hp2 HG02257.hp2 HG02300.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02818.hp1 HG03516.hp1 HG04115.hp1 HG06807.hp2 NA18970.hp1 NA18979.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19085.hp2 NA19091.hp2 NA21309.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0015	a0001c0001 a0002c0002 a0004c0004 others(3): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005 a0006c0006 a0015c0011	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0004c0004t0001 a0004c0004t0002 a0005c0005t0001 a0005c0005t0002 a0006c0006t0002 a0015c0011t0002	a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0047 others(25): Show a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0002g0013 a0002c0002t0001g0056 a0002c0002t0001g0061 a0002c0002t0001g0156 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0216 a0002c0002t0001g0225 a0002c0002t0002g0139 a0002c0002t0002g0145 a0002c0002t0002g0177 a0002c0002t0002g0188 a0002c0002t0007g0223 a0004c0004t0001g0128 a0004c0004t0001g0129 a0004c0004t0001g0131 a0004c0004t0001g0132 a0004c0004t0002g0227 a0005c0005t0001g0218 a0005c0005t0002g0148 a0006c0006t0002g0237 a0015c0011t0002g0153	28	71	0.3944	-40	c.12 others(57): Show c.12-5030_*12-4991delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	13/13			chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142285350	AGATGGAT others(33): Show AGATGGATGGGTGGGTGGGTAGATGTATGGATGGGTGAATG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03831.hp1 HG01496.hp2 HG03831.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0002 a0006c0006t0001 a0006c0006t0002	a0006c0006t0001g0231 a0006c0006t0002g0229 a0006c0006t0001g0231 a0006c0006t0002g0229	2	236	0.0085	-40	c.129 others(57): Show c.1291-905_1291-866delCATTCACCCATCCATACATCTACCCACC CACCCATCCATC	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	10/13			chr8	TogoVar
TSPAN5_chr4_98465367_98663611	98660929	AAGATAAC others(33): Show AAGATAACTAATCAGTAATTTGGAGGGGGGGGTGGAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	234	0.0043	-40	c.-27 others(51): Show c.-2743_-2704delGTTTTTCCACCCCCCCCTCCAAATTACTGATTAG TTATCT	TSPAN5	ENSG00000168785.8	transcript	ENST00000305798.8	protein_coding		2319		chr4	TogoVar
TSPAN9_chr12_3072379_3291559	3226716	GTATGTGT others(33): Show GTATGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0113 a0001c0001t0009g0113	1	272	0.0037	-40	c.63+ others(57): Show c.63+25464_63+25503delGTGTGTGTGTGTGTGTGTGTGTGTGTAT ATATATATATAT	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3235213	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0264 a0001c0001t0004g0264	1	260	0.0038	-40	c.63+ others(57): Show c.63+33959_63+33998delAAAATATATATATATATATATATATATA TATATATATATA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSTD3_chr6_99516049_99538185	99535901	GTATATAC others(33): Show GTATATACATATATATATATATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	41	0.0244	-40	c.41 others(51): Show c.4182_*4221delTATATACATATATATATATATATATATATATATA TATATA	TSTD3	ENSG00000279170.3	transcript	ENST00000452647.3	protein_coding		2717		chr6	TogoVar
TTC13_chr1_230901243_230983861	230963128	CATTAAAT others(33): Show CATTAAATTATGTTCAAGGAACCATCTGAGGGAGAGAATAA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	334	0.0030	-40	c.272 others(57): Show c.272-1865_272-1826delTTATTCTCTCCCTCAGATGGTTCCTTGA ACATAATTTAAT	TTC13	ENSG00000143643.13	transcript	ENST00000366661.9	protein_coding	1/22			chr1	TogoVar
TTC3_chr21_37068254_37208107	37206804	GTGGATCT others(33): Show GTGGATCTGTGAGTCAATTAAACCTCTTTTCTTCATAAATT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0005	a0004c0006t0005g0281 a0004c0006t0005g0281	1	338	0.0030	-40	c.52 others(51): Show c.5231_*5270delTGGATCTGTGAGTCAATTAAACCTCTTTTCTTCA TAAATT	TTC3	ENSG00000182670.14	transcript	ENST00000418766.6	protein_coding		3698		chr21	TogoVar
TTC5_chr14_20281227_20310951	20310054	ACCCTCCG others(33): Show ACCCTCCGCCCAGCATCCGCCCCATCTGAGAAGTGAGGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18994.hp2 NA18990.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0141 a0001c0002t0002g0025 a0001c0002t0002g0141	2	414	0.0048	-40	c.-41 others(51): Show c.-4157_-4118delGCTCCTCACTTCTCAGATGGGGCGGATGCTGGGC GGAGGG	TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding		4104		chr14	TogoVar
TTC8_chr14_88819651_88882988	88862541	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03041.hp1 NA18943.hp1 others(1): Show HG02970.hp2 HG03041.hp1 NA18943.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0019 a0001c0001t0001g0106 a0001c0001t0001g0107	4	45	0.0889	-40	c.909 others(57): Show c.909+1226_909+1265delATATATATATATATATATATATATATAT ATATATATATAT	TTC8	ENSG00000165533.19	transcript	ENST00000380656.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL11_chr9_121810674_122098308	122090113	TGTAGATC others(33): Show TGTAGATCAACATTACCATTATGCGGCTACCGAAGTAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02145.hp1 HG03225.hp2 others(5): Show HG01175.hp2 HG02145.hp1 HG03225.hp2 HG03669.hp2 HG03942.hp2 HG04115.hp1 NA18522.hp1 NA19065.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0003 a0001c0001t0014 a0001c0001t0015 others(5): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0027 a0001c0001t0036 a0001c0001t0041 a0004c0005t0013	a0001c0001t0003g0071 a0001c0001t0014g0068 a0001c0001t0015g0067 others(5): Show a0001c0001t0003g0071 a0001c0001t0014g0068 a0001c0001t0015g0067 a0001c0001t0020g0066 a0001c0001t0027g0069 a0001c0001t0036g0070 a0001c0001t0041g0065 a0004c0005t0013g0052	8	172	0.0465	-40	c.462 others(57): Show c.462+2534_462+2573delTCTCTACTTCGGTAGCCGCATAATGGTA ATGTTGATCTAC	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	1/8			chr9	TogoVar
TTLL12_chr22_43161622_43192134	43185247	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0171 a0001c0001t0004g0171	1	19	0.0526	-40	c.177 others(57): Show c.177+1606_177+1645delTATATATATATATATATATATATATATA TATATATATATA	TTLL12	ENSG00000100304.13	transcript	ENST00000216129.7	protein_coding	1/13			chr22	TogoVar
TTLL13_chr15_90244556_90270477	90256570	TTTCTTTC others(33): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18979.hp2 NA18955.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	427	0.0047	-40	c.705 others(55): Show c.705+277_705+316delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCCTTC	TTLL13	ENSG00000213471.10	transcript	ENST00000641754.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
TTLL13_chr15_90244556_90270477	90256574	TTTCTTTC others(33): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01256.hp2 HG01258.hp2 others(1): Show HG01123.hp1 HG01256.hp2 HG01258.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0002 a0001c0001t0001g0033	4	430	0.0093	-40	c.705 others(55): Show c.705+281_705+320delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCCTTCCTTC	TTLL13	ENSG00000213471.10	transcript	ENST00000641754.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
TTLL13_chr15_90244556_90270477	90256582	TTTCTTTC others(33): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	430	0.0023	-40	c.705 others(55): Show c.705+289_705+328delTTTCTTTCTTTCTTTCTTTCTTTCCTTCCT TCCTTCCTTC	TTLL13	ENSG00000213471.10	transcript	ENST00000641754.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
TTLL5_chr14_75656246_75960079	75925499	CGGGCAGA others(33): Show CGGGCAGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	193	0.0052	-40	c.382 others(61): Show c.3823+23297_3823+23336delCCTAGATGGGATGGCGGCTGGGCA GAGACGCTCCTCACTT	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL6_chr17_48757234_48822229	48802078	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG01175.hp2 others(1): Show HG00280.hp2 HG00323.hp1 HG01175.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0292 others(1): Show a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0292 a0001c0001t0003g0300	4	43	0.0930	-40	c.362 others(55): Show c.362-475_362-436delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	TTLL6	ENSG00000170703.16	transcript	ENST00000393382.8	protein_coding	3/15			chr17	TogoVar
TTLL6_chr17_48757234_48822229	48810777	GTGTGTAT others(33): Show GTGTGTATATATATATAGTACATATATACACATATATAGTA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01891.hp1 HG02055.hp2 others(4): Show HG01358.hp2 HG01891.hp1 HG02055.hp2 HG02451.hp1 HG02922.hp2 HG02965.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 others(4): Show a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0002g0112 a0001c0001t0002g0116 a0002c0002t0001g0024 a0002c0002t0001g0040	7	328	0.0213	-40	c.104 others(57): Show c.104-5826_104-5787delTACTATATATGTGTATATATGTACTATA TATATATACACA	TTLL6	ENSG00000170703.16	transcript	ENST00000393382.8	protein_coding	1/15			chr17	TogoVar
TTLL9_chr20_31865634_31950000	31889972	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	97	0.0103	-40	c.113 others(57): Show c.113+2756_113+2795delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTYH3_chr7_2626986_2669802	2645496	GGACAGGG others(33): Show GGACAGGGGAGCTCTGGTGTCTGTTCTGTGGTCTGTCTTTT	G G	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	400	0.0025	-40	c.124 others(57): Show c.124-1355_124-1316delACAGGGGAGCTCTGGTGTCTGTTCTGTG GTCTGTCTTTTG	TTYH3	ENSG00000136295.16	transcript	ENST00000258796.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
TUBB3_chr16_89918342_89941097	89934144	GGGGCCGT others(33): Show GGGGCCGTGGATGCCACGTTCCCATGCCTGTGTCCTGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0190	1	394	0.0025	-40	c.277 others(55): Show c.277+570_278-542delCCGTGGATGCCACGTTCCCATGCCTGTGTC CTGGGGCGGG	TUBB3	ENSG00000258947.8	transcript	ENST00000315491.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
TUBGCP2_chr10_133273635_133313872	133291671	CGGGGAGC others(33): Show CGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18939.hp2 HG01884.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0118 a0001c0002t0003g0075 a0001c0001t0001g0118 a0001c0002t0003g0075	2	279	0.0072	-40	c.121 others(57): Show c.1214+788_1214+827delACGGTGCATGCTGCCCTCTCCCGTACAG GTAGGGCTCCCC	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291765	CGGGGAGC others(33): Show CGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	281	0.0036	-40	c.121 others(57): Show c.1214+694_1214+733delAGGGCGCGTGCTGCCCTCTCCCGTACAG GTAGGGCTCCCC	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291860	CGGGGAGC others(33): Show CGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	281	0.0036	-40	c.121 others(57): Show c.1214+599_1214+638delACGGTGCATGCTGCCCTCTCCCGTACAG GTAGGGCTCCCC	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP5_chr15_22994177_23044569	23042251	TGGGGGTG others(33): Show TGGGGGTGGGTATTATATCCCCACCTGGCCAGAGGTGCTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18980.hp2 NA18985.hp1 others(4): Show NA18949.hp1 NA18980.hp2 NA18985.hp1 NA18994.hp1 NA19012.hp2 NA19062.hp1 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0013 a0001c0002 a0004c0013	a0001c0002t0002 a0004c0013t0002 a0001c0002t0002 a0004c0013t0002	a0001c0002t0002g0003 a0001c0002t0002g0076 a0001c0002t0002g0080 others(4): Show a0001c0002t0002g0003 a0001c0002t0002g0076 a0001c0002t0002g0080 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0113 a0004c0013t0002g0091	7	341	0.0205	-40	c.-27 others(51): Show c.-2748_-2709delCCAGCACCTCTGGCCAGGTGGGGATATAATACCC ACCCCC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		2683		chr15	TogoVar
TWIST2_chr2_238843085_238915534	238870889	ACACACCA others(33): Show ACACACCACATCCCTCCCACACACCACACACACACCACACC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	335	0.0030	-40	c.35 others(59): Show c.35+22158_*35+22197delACACCACATCCCTCCCACACACCACA CACACACCACACCC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238905926	CGTGTGCG others(33): Show CGTGTGCGCGTGTGTGTGCGCGCGCGTGTGTACGTGTGCGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	334	0.0030	-40	c.36 others(57): Show c.36-3910_*36-3871delCGCGTGTGTGTGCGCGCGCGTGTGTACG TGTGCGTGTGTG	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNRD1_chr12_104210779_104355307	104267663	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00639.hp2 others(13): Show HG00099.hp2 HG00323.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01361.hp2 HG02683.hp1 HG02735.hp1 HG03139.hp1 HG03490.hp1 HG03710.hp2 HG06807.hp1 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0010t0002 a0001c0001t0001 a0001c0002t0001 a0001c0010t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0209 a0001c0002t0001g0022 a0001c0002t0001g0027 a0001c0010t0002g0021	16	300	0.0533	-40	c.304 others(57): Show c.304+9604_304+9643delTTCTTTCTTTCTTTCTTTCTCTCTTTCT TTCTTTCTTTCT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TYMS_chr18_652653_678578	667435	GTGATGGT others(33): Show GTGATGGTGATGGTGATGGTGATGATGGAGATGGTGATGGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp1 HG02109.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0013 a0001c0001t0012 a0001c0001t0013	a0001c0001t0012g0313 a0001c0001t0013g0338 a0001c0001t0012g0313 a0001c0001t0013g0338	2	480	0.0042	-40	c.455 others(57): Show c.455-1636_455-1597delTGATGGTGATGGTGATGGTGATGATGGA GATGGTGATGGT	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6			chr18	TogoVar
TYMS_chr18_652653_678578	667441	GTGATGGT others(33): Show GTGATGGTGATGGTGATGATGGAGATGGTGATGGTGATGGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0069 a0001c0001t0012g0069	1	475	0.0021	-40	c.455 others(57): Show c.455-1630_455-1591delTGATGGTGATGGTGATGATGGAGATGGT GATGGTGATGGT	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6			chr18	TogoVar
TYMS_chr18_652653_678578	667457	TGATGGAG others(33): Show TGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTGATG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0311 a0001c0001t0004g0311	1	464	0.0022	-40	c.455 others(57): Show c.455-1612_455-1573delTGGAGATGGTGATGGTGATGGTGATGGT GATGGTGATGGA	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar

Search by Variant

Search

Search Results