Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TENM1_chrX_124370903_125209312	124974888	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0042 a0001c0002t0003g0042	1	140	0.0071	44	c.-64 others(63): Show c.-64-11072_-64-11071insTATATATATATATATATATATATATA TATATATATATATATATA	TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding	3/34			chrX	TogoVar
TENM3_chr4_182238402_182808024	182603784	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0056 a0001c0002t0005g0056	1	140	0.0071	44	c.749 others(61): Show c.749+2624_749+2625insTATATATATATATATATATATATATATA TATATATATATACACA	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr4	TogoVar
TENT4A_chr5_6708432_6762044	6710005	C C	CATATACA others(37): Show CATATACATATATATACACATATGTATATATATGTATATGTGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	388	0.0026	44	c.-39 others(55): Show c.-3979_-3978insATATACATATATATACACATATGTATATATATGT ATATGTGTAT	TENT4A	ENSG00000112941.14	transcript	ENST00000230859.8	protein_coding		3426		chr5	TogoVar
TERF1_chr8_73003864_73053123	73037851	A A	AATATATA others(37): Show AATATATAAATATGATATATAATATATATAAATATGATATATAAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	342	0.0029	44	c.104 others(63): Show c.1040-1246_1040-1203dupTAATATATATAAATATGATATATAAT ATATATAAATATGATATA	TERF1	ENSG00000147601.15	transcript	ENST00000276603.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
TESPA1_chr12_54943015_54989762	54969021	G G	GTGTGTGT others(37): Show GTGTGTGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0117 a0001c0003t0001g0117	1	376	0.0027	44	c.207 others(61): Show c.207-1130_207-1129insTATATATATATATATATATATATATATA TATATATATACACACA	TESPA1	ENSG00000135426.16	transcript	ENST00000449076.6	protein_coding	3/10			chr12	TogoVar
TEX10_chr9_100297084_100357942	100299568	A A	AGCCTTGC others(37): Show AGCCTTGCAAACCACCCACCAAGAATCTCAGCAGAGCCTTTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	246	0.0041	44	c.26 others(55): Show c.2622_*2623insAATAAAAGGCTCTGCTGAGATTCTTGGTGGGTGG TTTGCAAGGC	TEX10	ENSG00000136891.14	transcript	ENST00000374902.9	protein_coding		2515		chr9	TogoVar
TEX11_chrX_70523940_70913711	70539038	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0102 a0002c0009t0001g0102	1	229	0.0044	44	c.252 others(63): Show c.2521-9040_2521-9039insAATATATATATATATATATATATATA TATATATATATATATATA	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	28/29			chrX	TogoVar
TEX11_chrX_70523940_70913711	70750931	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	229	0.0044	44	c.693 others(61): Show c.693-6713_693-6712insATATATATATATATATATATATATATAT ATATATATATATATAT	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	9/29			chrX	TogoVar
TFEB_chr6_41678978_41740608	41738205	T T	TATATATA others(37): Show TATATATATACATATATATATGCATATATATACATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0066 a0001c0005t0001g0066	1	406	0.0025	44	c.-28 others(55): Show c.-2879_-2878insGTATATATATATGTATATATATGCATATATATAT GTATATATAT	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2598		chr6	TogoVar
TFPI2_chr7_93880396_93895753	93888587	A A	AGGAAGGA others(37): Show AGGAAGGAAGGAAGGAAGGAAGGAAAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01123.hp1 HG01361.hp2 others(4): Show HG01081.hp2 HG01123.hp1 HG01361.hp2 HG01993.hp1 NA18975.hp1 NA18998.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0028 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0028 a0001c0002t0003g0032 a0001c0002t0003g0033	7	430	0.0163	44	c.460 others(59): Show c.460+447_460+448insCTTTCTTTCTTTCTTTCTCTTTCCTTCCTT CCTTCCTTCCTTCC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888587	A A	AGGAAGGA others(37): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0101 a0001c0002t0003g0101	1	430	0.0023	44	c.460 others(59): Show c.460+447_460+448insCTTTCTTTCTTTCTCTTTCCTTCCTTCCTT CCTTCCTTCCTTCC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888587	A A	AGGAAGGA others(37): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0058 a0001c0002t0003g0058	1	430	0.0023	44	c.460 others(59): Show c.460+447_460+448insCTTTCTTTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888589	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0066 a0001c0002t0003g0066	1	430	0.0023	44	c.460 others(59): Show c.460+445_460+446insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93895275	T T	TTAGTGAA others(37): Show TTAGTGAACCATTAAGAATGGACTGTGCAATGTCTGCCCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	430	0.0023	44	c.-45 others(55): Show c.-4598_-4597insGGGAGGGGGCAGACATTGCACAGTCCATTCTTAA TGGTTCACTA	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding		4523		chr7	TogoVar
TGDS_chr13_94569054_94601152	94595518	G G	GAAACGGG others(37): Show GAAACGGGAAACTGGTGAGAAGTGGTCGCCGTAAGGATATACTTT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	374	0.0027	44	c.86+ others(57): Show c.86+489_86+532dupAAAGTATATCCTTACGGCGACCACTTCTCACC AGTTTCCCGTTT	TGDS	ENSG00000088451.11	transcript	ENST00000261296.7	protein_coding	1/11			chr13	TogoVar
THAP4_chr2_241579405_241642158	241619842	G G	GGTGAGTG others(37): Show GGTGAGTGAGGAGTCGGTGAGTGAGGGGTGAGTGAGGGGTGAGTC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0281 a0001c0002t0001g0281	1	390	0.0026	44	c.124 others(65): Show c.1240+13074_1240+13075insGACTCACCCCTCACTCACCCCTCA CTCACCGACTCCTCACTCAC	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	2/5			chr2	TogoVar
THAP5_chr7_108557132_108574706	108558377	G G	GTGTGTAT others(37): Show GTGTGTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0008	1	424	0.0024	44	c.58 others(55): Show c.5813_*5814insTATATATATATATATATATATATATATATATATA TATATACACA	THAP5	ENSG00000177683.14	transcript	ENST00000415914.4	protein_coding		3754		chr7	TogoVar
THBS1_chr15_39576079_39604466	39581639	C C	CCTCTCTC others(37): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03130.hp1 HG02280.hp1 HG03130.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0021 a0002c0003t0021	a0002c0003t0021g0030 a0002c0003t0021g0030	2	352	0.0057	44	c.-29 others(59): Show c.-29-161_-29-160insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC	THBS1	ENSG00000137801.11	transcript	ENST00000260356.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
THNSL1_chr10_25011612_25031664	25021716	T T	TTAACTTA others(37): Show TTAACTTAAATTTTTTTCCATTATAGACTCCACGTTTTGCAAAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	412	0.0024	44	c.-21 others(56): Show c.-215-24_-196dupAACTTAAATTTTTTTCCATTATAGACTCCACGT TTTGCAAAGAT	THNSL1	ENSG00000185875.13	transcript	ENST00000376356.5	protein_coding	2/3	1462	INFO_REALIGN_3_PRIME	chr10	TogoVar
THSD4_chr15_71110471_71788383	71724287	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0038 a0006c0013t0001g0038	1	116	0.0086	44	c.135 others(63): Show c.1358-4261_1358-4260insATATATATATATATATATATATATAT ATATATATATATATATTT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD7A_chr7_11365365_11837198	11512942	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	180	0.0056	44	c.182 others(65): Show c.1822+28476_1822+28477insATATATATATATATATATATATAT ATATATATATATATATATAT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	6/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0052 a0001c0006t0001g0052	1	180	0.0056	44	c.190 others(63): Show c.190+62603_190+62604insAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATATAT others(37): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0059 a0001c0040t0059	a0001c0040t0059g0160 a0001c0040t0059g0160	1	180	0.0056	44	c.190 others(63): Show c.190+62603_190+62604insAAAAAAAAAAAAAAAAAAAAAAAAAA TATATATATATATATATA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7B_chr2_136760545_137682718	137211340	A A	ACACACAC others(37): Show ACACACACACACACACACACACACACACACACACACACACAGAGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0016 a0001c0019t0016	a0001c0019t0016g0090 a0001c0019t0016g0090	1	98	0.0102	44	c.172 others(65): Show c.1724-19679_1724-19678insACACACACACACACAGAGGCACAC ACACACACACACACACACAC	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TH_chr11_2158929_2176815	2161578	A A	AGACCCCT others(37): Show AGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	388	0.0026	44	c.26 others(55): Show c.2654_*2655insCCGGGGACAGGGGTGTGGGGACAGGGGTCCTGGG GACAGGGGTC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2350		chr11	TogoVar
TH_chr11_2158929_2176815	2161579	G G	GACCCCTG others(37): Show GACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG02027.hp2 HG02129.hp1 others(2): Show HG01168.hp2 HG02027.hp2 HG02129.hp1 HG04228.hp2 NA18939.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0008 a0002c0001t0001g0097 others(1): Show a0002c0001t0001g0002 a0002c0001t0001g0008 a0002c0001t0001g0097 a0002c0001t0001g0099	5	388	0.0129	44	c.26 others(55): Show c.2653_*2654insGTGGGGACAGGGGTCCTGGGGACAGGGGTCCTGG GGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2349		chr11	TogoVar
TH_chr11_2158929_2176815	2161621	C C	CACCCCTG others(37): Show CACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0069 a0002c0001t0003g0069	1	388	0.0026	44	c.26 others(55): Show c.2611_*2612insCCTGGGGACAGGGGTCCTGGGGACAGGGGTCTGG GGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2307		chr11	TogoVar
TH_chr11_2158929_2176815	2161677	A A	AGGACCCC others(37): Show AGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	388	0.0026	44	c.25 others(55): Show c.2555_*2556insCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTCC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2251		chr11	TogoVar
TH_chr11_2158929_2176815	2161678	G G	GGACCCCT others(37): Show GGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01934.hp1 HG02602.hp1 others(3): Show HG00735.hp2 HG01934.hp1 HG02602.hp1 HG03491.hp1 HG03492.hp2 HG04199.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0010 others(2): Show a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0010 a0002c0001t0001g0024 a0002c0001t0001g0073	6	388	0.0155	44	c.25 others(55): Show c.2554_*2555insGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGG GACAGGGGTC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2250		chr11	TogoVar
TH_chr11_2158929_2176815	2161705	A A	AGGACCCC others(37): Show AGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	388	0.0026	44	c.25 others(55): Show c.2527_*2528insCCGGGGACAGGGGTCTGGGGACAGGGGTGTGGGG ACAGGGGTCC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2223		chr11	TogoVar
TIAM1_chr21_31113418_31349261	31228235	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAGGAGAAATAATCTGATAAGGATTTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0122 a0001c0001t0009g0122	1	212	0.0047	44	c.158 others(63): Show c.1585-2286_1585-2285insAAAGGAAAAATCCTTATCAGATTATT TCTCCTTTTTTTTTTTTT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	6/27			chr21	TogoVar
TIGD2_chr4_89106533_89119901	89119115	A A	AAATATAT others(37): Show AAATATATATGTAGTATATATGTAAATATATATGTAGTATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02647.hp2 HG02886.hp1 others(5): Show HG02486.hp2 HG02647.hp2 HG02886.hp1 HG03130.hp2 HG03195.hp1 HG03453.hp1 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0001 a0001c0001t0012g0001 a0001c0001t0001g0001 a0001c0001t0012g0001	8	430	0.0186	44	c.45 others(55): Show c.4563_*4564insAATATATATGTAGTATATATGTAAATATATATGT AGTATATATG	TIGD2	ENSG00000180346.5	transcript	ENST00000603357.3	protein_coding		4215		chr4	TogoVar
TIGIT_chr3_114289028_114315288	114303575	A A	ATATATAT others(37): Show ATATATATATACATATATATGTATATATATATATACATATATATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG02559.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0089 a0001c0001t0006g0197 a0001c0001t0006g0089 a0001c0001t0006g0197	2	424	0.0047	44	c.498 others(61): Show c.498+3882_498+3883insCATATATATGTATATATATATATACATA TATATGTATATATATA	TIGIT	ENSG00000181847.12	transcript	ENST00000383671.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
TIMM9_chr14_58403495_58432531	58404099	G G	GTGTGTGT others(37): Show GTGTGTGTATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	378	0.0027	44	c.49 others(55): Show c.4934_*4935insTATATATATATATATATATATATATATATATATA TATACACACA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4395		chr14	TogoVar
TIMP2_chr17_78847977_78930387	78904091	A A	ATGTGTGT others(37): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18971.hp2 NA19074.hp1 HG03195.hp1 NA18971.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0020 a0001c0002t0039 a0001c0001t0001 a0001c0001t0020 a0001c0002t0039	a0001c0001t0001g0302 a0001c0001t0020g0142 a0001c0002t0039g0144 a0001c0001t0001g0302 a0001c0001t0020g0142 a0001c0002t0039g0144	3	316	0.0095	44	c.130 others(63): Show c.130+20867_130+20868insCACACACACACACACACACACACACA CACACACACACACACACA	TIMP2	ENSG00000035862.13	transcript	ENST00000262768.11	protein_coding	1/4			chr17	TogoVar
TIMP3_chr22_32796705_32868041	32814324	A A	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0330 a0001c0001t0018g0330	1	368	0.0027	44	c.121 others(63): Show c.121+12218_121+12219insAAGAAAGAAAGAAAGAAAGAAAGAAA GGAAGAAAGAAAGAAAGA	TIMP3	ENSG00000100234.12	transcript	ENST00000266085.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
TIMP3_chr22_32796705_32868041	32814324	A A	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02055.hp2 others(10): Show HG01243.hp2 HG01884.hp2 HG02055.hp2 HG02258.hp2 HG02922.hp1 HG02970.hp1 HG03486.hp2 HG03516.hp2 HG03704.hp1 HG03927.hp2 NA18906.hp2 NA18945.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 others(7): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0022 a0001c0002t0003 a0001c0002t0016 a0001c0003t0003	a0001c0001t0005g0320 a0001c0001t0008g0284 a0001c0001t0008g0295 others(10): Show a0001c0001t0005g0320 a0001c0001t0008g0284 a0001c0001t0008g0295 a0001c0001t0011g0289 a0001c0001t0011g0290 a0001c0001t0012g0257 a0001c0001t0013g0076 a0001c0001t0015g0309 a0001c0001t0022g0280 a0001c0001t0022g0299 a0001c0002t0003g0115 a0001c0002t0016g0114 a0001c0003t0003g0116	13	368	0.0353	44	c.121 others(63): Show c.121+12218_121+12219insAAGAAAGAAAGAAAGAAAGGAAGAAA GGAAGAAAGAAAGAAAGA	TIMP3	ENSG00000100234.12	transcript	ENST00000266085.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
TJP2_chr9_69169277_69260208	69252580	C C	CTTCAAAA others(37): Show CTTCAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAATAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0004 a0011c0021t0004	a0011c0021t0004g0334 a0011c0021t0004g0334	1	356	0.0028	44	c.332 others(61): Show c.3322-235_3322-234insTTCAAAAAAAAAAAAAAAAAAAAAAATA AAAAAAAAAAAATAAA	TJP2	ENSG00000119139.21	transcript	ENST00000377245.9	protein_coding	21/22			chr9	TogoVar
TKTL1_chrX_154290795_154335350	154295407	C C	CCACGTGC others(37): Show CCACGTGCGGCACCACCCCCTGACACGTGCGGCACCACCCCCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0227 a0001c0002t0002g0227	1	272	0.0037	44	c.-45 others(53): Show c.-453_-452insCACGTGCGGCACCACCCCCTGACACGTGCGGCACCA CCCCCTGA	TKTL1	ENSG00000007350.18	transcript	ENST00000369915.8	protein_coding		387		chrX	TogoVar
TLDC2_chr20_36871138_36899235	36880070	C C	CATATATA others(37): Show CATATATATATATGTATATATATATATGTGTGTGTATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18962.hp1 NA18951.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0196 a0001c0001t0001g0101 a0001c0001t0001g0196	2	384	0.0052	44	c.343 others(59): Show c.343-573_343-572insGTATATATATATATGTGTGTGTATATATAT ATATATATATATAT	TLDC2	ENSG00000101342.10	transcript	ENST00000217320.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
TLDC2_chr20_36871138_36899235	36890396	C C	CCCTTTCT others(37): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01943.hp1 HG02074.hp1 others(10): Show HG00609.hp1 HG01943.hp1 HG02074.hp1 HG04228.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18953.hp1 NA18988.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA19067.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0005c0004t0001 a0001c0001t0001 a0005c0004t0001	a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0075 others(8): Show a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0075 a0001c0001t0001g0093 a0001c0001t0001g0118 a0001c0001t0001g0169 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0219 a0001c0001t0001g0274 a0005c0004t0001g0254	13	384	0.0339	44	c.17 others(59): Show c.17+993_*17+994insCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	TLDC2	ENSG00000101342.10	transcript	ENST00000217320.8	protein_coding	6/6			chr20	TogoVar
TLDC2_chr20_36871138_36899235	36890396	C C	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp2 HG03579.hp2 HG02647.hp1 HG02896.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0053 a0001c0002t0001g0059 a0001c0002t0002g0292 a0001c0002t0001g0053 a0001c0002t0001g0059 a0001c0002t0002g0292	3	384	0.0078	44	c.17 others(61): Show c.17+1018_*17+1019insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	TLDC2	ENSG00000101342.10	transcript	ENST00000217320.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
TLE1_chr9_81578683_81694547	81675698	G G	GTTTTTTT others(37): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0298 a0001c0001t0024g0298	1	356	0.0028	44	c.234 others(61): Show c.234+9977_234+9978insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	TLE1	ENSG00000196781.16	transcript	ENST00000376499.8	protein_coding	4/19			chr9	TogoVar
TLL1_chr4_165868237_166109457	166052965	G G	GTGTATAT others(37): Show GTGTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18952.hp1 NA18962.hp2 others(4): Show HG02896.hp1 NA18952.hp1 NA18962.hp2 NA18967.hp2 NA18971.hp2 NA19074.hp1 NA19075.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0008	a0001c0001 a0001c0003 a0003c0008 others(2): Show a0001c0001 a0001c0003 a0003c0008 a0007c0024 a0008c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0003t0001 a0003c0008t0017 a0007c0024t0001 a0008c0023t0001	a0001c0001t0001g0167 a0001c0001t0003g0115 a0001c0001t0007g0047 others(4): Show a0001c0001t0001g0167 a0001c0001t0003g0115 a0001c0001t0007g0047 a0001c0003t0001g0057 a0003c0008t0017g0140 a0007c0024t0001g0139 a0008c0023t0001g0174	7	250	0.0280	44	c.152 others(63): Show c.1525-2110_1525-2109insGTATATATATATATATATATATATAT ATATATATATATATATAT	TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TLL1_chr4_165868237_166109457	166052965	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0212 a0001c0001t0004g0212	1	250	0.0040	44	c.152 others(63): Show c.1525-2110_1525-2109insGTGTGTGTGTGTATATATATATATAT ATATATATATATATATAT	TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TLL1_chr4_165868237_166109457	166052965	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	250	0.0040	44	c.152 others(63): Show c.1525-2110_1525-2109insGTGTGTGTGTGTGTGTGTATATATAT ATATATATATATATATAT	TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TM9SF4_chr20_32104714_32172256	32123218	A A	AGGGGGGA others(37): Show AGGGGGGAGGGGGAGAGGGGGAGGGGGGAGGGGGAGAGGGAGAGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	298	0.0034	44	c.16- others(59): Show c.16-9790_16-9789insGAGGGGGAGAGGGGGAGGGGGGAGGGGGAG AGGGAGAGGGGGGG	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMC1_chr9_72516608_72843297	72650881	T T	TATATATA others(37): Show TATATATATAGATATATATATAAATATATATAGATATATATATAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	182	0.0055	44	c.16+ others(59): Show c.16+2218_16+2219insTATATATAGATATATATATAAATATATATA GATATATATATAAA	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMC5_chr16_19412883_19504113	19438435	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03834.hp2 NA18992.hp2 others(2): Show HG00609.hp2 HG03834.hp2 NA18992.hp2 NA19079.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0019 a0001c0001t0002 a0001c0001t0007 a0001c0001t0019	a0001c0001t0002g0285 a0001c0001t0002g0328 a0001c0001t0002g0333 others(2): Show a0001c0001t0002g0285 a0001c0001t0002g0328 a0001c0001t0002g0333 a0001c0001t0007g0222 a0001c0001t0019g0157	5	336	0.0149	44	c.-79 others(61): Show c.-79-1500_-79-1499insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAA	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMCC3_chr12_94562122_94655557	94594216	T T	TATATATA others(37): Show TATATATATATATATATATATATATATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0031 a0001c0001t0010g0031	1	378	0.0027	44	c.79- others(61): Show c.79-11679_79-11678insGTGTGTGTGTGTGTGTGTATATATATAT ATATATATATATATAT	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar

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Search Results (Total: 4475 hits)