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
TARM1_chr19_54064895_54086365	54083465	T T	TAAAGTTC others(37): Show TAAAGTTCCATTCCACTTGGAAATGAAGAAAGGAGACCCTGATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	409	0.0024	44	c.-21 others(55): Show c.-2126_-2125insGAATCAGGGTCTCCTTTCTTCATTTCCAAGTGGA ATGGAACTTT	TARM1	ENSG00000248385.8	transcript	ENST00000432826.2	protein_coding		2101		chr19	TogoVar
TAS2R13_chr12_10902926_10914562	10907779	T T	TAAATTAT others(37): Show TAAATTATACAATAATATAAATTATTATATGTAAATTATACCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	407	0.0049	44	c.60 others(53): Show c.607_*608insTGAGGTATAATTTACATATAATAATTTATATTATTG TATAATTT	TAS2R13	ENSG00000212128.2	transcript	ENST00000390677.2	protein_coding		146		chr12	TogoVar
TASL_chrX_30553809_30582766	30571256	G G	GAAAGAGA others(37): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp2 NA18906.hp2 HG02145.hp1 HG02257.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0002t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0002t0001g0047	3	318	0.0094	44	c.-2+ others(59): Show c.-2+5495_-2+5496insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTCTTT	TASL	ENSG00000120280.6	transcript	ENST00000378962.4	protein_coding	2/2			chrX	TogoVar
TATDN2_chr3_10243459_10286218	10257294	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0112 a0003c0003t0002g0112	1	366	0.0027	44	c.415 others(61): Show c.415-2824_415-2823insATATATATATATATATATATATATATAT ATATATATATATATAT	TATDN2	ENSG00000157014.11	transcript	ENST00000448281.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
TATDN3_chr1_212786894_212821830	212806838	A A	ATATATAC others(37): Show ATATATACACATATATACATATGTATATACACATATATACATATG	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18522.hp1 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0010 a0001c0001t0010 a0001c0002t0010	a0001c0001t0010g0043 a0001c0002t0010g0289 a0001c0001t0010g0043 a0001c0002t0010g0289	2	390	0.0051	44	c.488 others(59): Show c.488-854_488-811dupGTATATACACATATATACATATGTATATAC ACATATATACATAT	TATDN3	ENSG00000203705.11	transcript	ENST00000366974.9	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBC1D19_chr4_26579084_26761223	26735045	C C	CACACATG others(37): Show CACACATGTATATATGTATATATGTATACACATGTATATATGTAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	310	0.0032	44	c.108 others(61): Show c.1085-375_1085-332dupATATATGTATACACATGTATATATGTAT ATATGTATACACATGT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D22A_chr22_46757650_47180693	47172002	G G	GCCCAGTG others(37): Show GCCCAGTGAGCCTACCCAGCACTCCCAGTGAGCCTACCCAGCACT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18522.hp1 NA18522.hp2 others(1): Show HG02970.hp2 NA18522.hp1 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0090 a0001c0001t0002g0003 a0001c0001t0002g0018 others(1): Show a0001c0001t0001g0090 a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0002g0097	4	112	0.0357	44	c.142 others(63): Show c.1426-1489_1426-1488insAGCCTACCCAGCACTCCCAGTGAGCC TACCCAGCACTCCCAGTG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47172010	T T	TGCCTACC others(37): Show TGCCTACCCAGCACTCCCAGTGAGCCTACCCAGCACTCCCAGTGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0085 a0001c0001t0006g0085	1	112	0.0089	44	c.142 others(63): Show c.1426-1441_1426-1398dupCTACCCAGCACTCCCAGTGAGCCTAC CCAGCACTCCCAGTGAGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47172010	T T	TGCCTACC others(37): Show TGCCTACCCAGCACTCCCAGTGTGCCTACCCAGCACTCCCAGTGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	112	0.0089	44	c.142 others(63): Show c.1426-1467_1426-1466insTGCCTACCCAGCACTCCCAGTGAGCC TACCCAGCACTCCCAGTG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGGAAG others(37): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02257.hp2 NA18956.hp2 HG02129.hp1 HG02257.hp2 NA18956.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0034 a0002c0003t0001 a0002c0003t0034	a0002c0003t0001g0199 a0002c0003t0001g0249 a0002c0003t0034g0235 a0002c0003t0001g0199 a0002c0003t0001g0249 a0002c0003t0034g0235	3	280	0.0107	44	c.683 others(61): Show c.683+4044_683+4045insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTCCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGGAAG others(37): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18995.hp1 NA19089.hp1 HG02698.hp2 NA18995.hp1 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0001c0001t0038 a0002c0003t0001 a0001c0001t0004 a0001c0001t0038 a0002c0003t0001	a0001c0001t0004g0176 a0001c0001t0038g0175 a0002c0003t0001g0232 a0001c0001t0004g0176 a0001c0001t0038g0175 a0002c0003t0001g0232	3	280	0.0107	44	c.683 others(61): Show c.683+4044_683+4045insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCCTTCCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGGAAG others(37): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18943.hp2 HG02965.hp1 NA18943.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0001 a0001c0002t0003 a0002c0003t0001	a0001c0002t0003g0086 a0002c0003t0001g0228 a0001c0002t0003g0086 a0002c0003t0001g0228	2	280	0.0071	44	c.683 others(61): Show c.683+4044_683+4045insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTCCTTCCTTCCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D32_chr6_121074494_121339480	121192081	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATCTCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0234 a0001c0003t0007g0234	1	292	0.0034	44	c.257 others(65): Show c.2570+12993_2570+12994insGGAGATATATATATATATATATAT ATATATATATATATATATAT	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	22/31			chr6	TogoVar
TBCD_chr17_82747065_82950914	82751101	C C	CCGGCCCC others(37): Show CCGGCCCCCCGTCCCCTCCCCCCATCCCTGTCCCCCCGTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0188 a0003c0004t0004g0188	1	318	0.0031	44	c.-10 others(55): Show c.-1093_-1092insCGGCCCCCCGTCCCCTCCCCCCATCCCTGTCCCC CCGTCCCCCT	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding		963		chr17	TogoVar
TBCD_chr17_82747065_82950914	82765247	C C	CTGTGTGC others(37): Show CTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	318	0.0031	44	c.334 others(61): Show c.334-1016_334-1015insTGCTCATAGTCTGCTTTTCTTACAAGCT TGCGGGTGTCTGTGTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82765367	C C	CTGTGCTC others(37): Show CTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0257 a0006c0016t0001g0257	1	318	0.0031	44	c.334 others(59): Show c.334-898_334-897insTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGTGTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBL1XR1_chr3_177014344_177202482	177135333	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTACATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0092 a0001c0001t0020g0092	1	306	0.0033	44	c.-12 others(65): Show c.-121-36793_-121-36792insTATATATATATATATATATATATG TACACACACACACACACACA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBRG1_chr11_124617864_124640926	124637557	T T	TGGCCCAG others(37): Show TGGCCCAGCTGCTGCTGCTCCGCTCTGGCACTCCCAGAGCCACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	462	0.0022	44	c.53 others(55): Show c.5319_*5320insGGCCCAGCTGCTGCTGCTCCGCTCTGGCACTCCC AGAGCCACTG	TBRG1	ENSG00000154144.13	transcript	ENST00000441174.8	protein_coding		1632		chr11	TogoVar
TBXAS1_chr7_139824264_140025293	139905073	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTTTCTTTCTCTTTCTCCCTCTCTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	270	0.0037	44	c.237 others(61): Show c.237-6149_237-6148insCTCTCTCTCTCTCTCTCTTTCTTTCTCT TTCTCCCTCTCTTTCT	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139984636	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAACAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	270	0.0037	44	c.113 others(65): Show c.1134+22406_1134+22407insAAGAAAGAAAGAAAGAAAGAAAGA AAGAAACAAAGAAAGAAAGA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139984636	G G	GAGGGAGA others(37): Show GAGGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02056.hp2 HG02135.hp1 others(3): Show HG01361.hp1 HG02056.hp2 HG02135.hp1 HG02451.hp2 HG02922.hp2 NA19002.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0008 a0001c0001 a0011c0008	a0001c0001t0001 a0011c0008t0001 a0001c0001t0001 a0011c0008t0001	a0001c0001t0001g0112 a0001c0001t0001g0203 a0001c0001t0001g0235 others(3): Show a0001c0001t0001g0112 a0001c0001t0001g0203 a0001c0001t0001g0235 a0001c0001t0001g0255 a0001c0001t0001g0266 a0011c0008t0001g0135	6	270	0.0222	44	c.113 others(65): Show c.1134+22405_1134+22406insGGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAG	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139984946	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	270	0.0037	44	c.113 others(65): Show c.1135-22126_1135-22125insGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TCERG1L_chr10_131087391_131316721	131256992	G G	GGAAGGAA others(37): Show GGAAGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0222 a0002c0004t0008g0222	1	324	0.0031	44	c.856 others(61): Show c.856+3266_856+3267insTTTCTTTCTTTCTTTCTTCCTTTCCTTC CTTCCTTCCTTCCTTC	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
TCF12_chr15_56913644_57294853	57075835	T T	TCTCTCTC others(37): Show TCTCTCTCTCTTTCTCTCTTTCTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	330	0.0030	44	c.222 others(63): Show c.222+12012_222+12013insCTCTCTCTCTTTCTCTCTTTCTTCTT TCTTTCTTTCTTTCTTTC	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20			chr15	TogoVar
TCF12_chr15_56913644_57294853	57075835	T T	TCTTTCTC others(37): Show TCTTTCTCTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	330	0.0030	44	c.222 others(63): Show c.222+12012_222+12013insCTTTCTCTCTTTCTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20			chr15	TogoVar
TCF12_chr15_56913644_57294853	57075835	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01123.hp1 HG01123.hp2 others(7): Show HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01975.hp2 HG02165.hp1 HG03239.hp2 NA18952.hp2 NA18962.hp1 NA18974.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0018	a0001c0001t0001g0040 a0001c0001t0001g0092 a0001c0001t0001g0099 others(7): Show a0001c0001t0001g0040 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0111 a0001c0001t0002g0114 a0001c0001t0002g0292 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0006g0130 a0001c0001t0018g0296	10	330	0.0303	44	c.222 others(63): Show c.222+12040_222+12041insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF20_chr22_42155013_42275653	42219355	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	355	0.0028	44	c.-36 others(61): Show c.-36-4015_-36-4014insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	TCF20	ENSG00000100207.21	transcript	ENST00000677622.1	protein_coding	1/5			chr22	TogoVar
TCF20_chr22_42155013_42275653	42242202	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0002 a0012c0018t0002	a0012c0018t0002g0243 a0012c0018t0002g0243	1	355	0.0028	44	c.-36 others(63): Show c.-36-26862_-36-26861insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	TCF20	ENSG00000100207.21	transcript	ENST00000677622.1	protein_coding	1/5			chr22	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAAAA others(37): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	300	0.0033	44	c.-46 others(55): Show c.-4615_-4614insAAAAAAAAAAATATATATATATATATATATATAT ATATATATAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAAAA others(37): Show AAAAAAAAAATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	300	0.0033	44	c.-46 others(55): Show c.-4615_-4614insAAAAAAAAATATATATATATATATATATATATAT ATATATATAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAACA others(37): Show AAAAAACATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	300	0.0033	44	c.-46 others(55): Show c.-4615_-4614insAAAAACATATATATATATATATATATATATATAT ATATATATAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAACAAA others(37): Show AAAACAAACATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	300	0.0033	44	c.-46 others(55): Show c.-4615_-4614insAAACAAACATATATATATATATATATATATATAT ATATATATAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89914789	T T	TTGTGTGT others(37): Show TTGTGTGTGTGCCTGTGTGTGGGTGCACATTTGTGTGTGTGTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00609.hp1 others(16): Show HG00323.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG01175.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02129.hp1 HG02165.hp2 NA18612.hp1 NA18940.hp2 NA18943.hp1 NA18960.hp1 NA18984.hp2 NA19003.hp1 NA19070.hp2 NA19074.hp2 NA19087.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0014 a0001c0001 a0001c0002 a0003c0014	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0003c0014t0001	a0001c0001t0001g0197 a0001c0002t0001g0021 a0001c0002t0001g0023 others(16): Show a0001c0001t0001g0197 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0005g0027 a0003c0014t0001g0026	19	300	0.0633	44	c.35 others(55): Show c.3551_*3552insTGTGTGTGTGCCTGTGTGTGGGTGCACATTTGTG TGTGTGTGCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		3411		chr16	TogoVar
TCF7L1_chr2_85128392_85315387	85299860	A A	AACACACA others(37): Show AACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG06807.hp2 HG03017.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0052 a0002c0002t0002g0017 a0002c0002t0001g0052 a0002c0002t0002g0017	2	236	0.0085	44	c.526 others(61): Show c.526-2623_526-2580dupACACACACACACACACACACACACACAC ACACACACACACACAC	TCF7L1	ENSG00000152284.5	transcript	ENST00000282111.4	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TCF7L2_chr10_112945247_113172678	112964813	G G	GGTGGTGG others(37): Show GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03486.hp1 HG01081.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0175 a0001c0001t0011g0184 a0001c0001t0011g0175 a0001c0001t0011g0184	2	200	0.0100	44	c.450 others(59): Show c.450+190_450+191insTGGTGGTGATGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTG	TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
TCF7L2_chr10_112945247_113172678	112966184	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0114 a0001c0001t0029g0114	1	200	0.0050	44	c.450 others(61): Show c.450+1587_450+1588insATATATATATATATATATATATATATAT ATATATATATATATAT	TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
TCHHL1_chr1_152079141_152094064	152082756	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	44	c.22 others(55): Show c.2210_*2211insATATATATATATATATATATATATATATATATAT ATATATATAT	TCHHL1	ENSG00000182898.4	transcript	ENST00000368806.2	protein_coding		1384		chr1	TogoVar
TCN2_chr22_30602174_30632271	30623907	T T	TATACACA others(37): Show TATACACACATATATGTATACATATATACACACATATATGTATAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0196 a0005c0005t0001g0196	1	466	0.0022	44	c.122 others(61): Show c.1222+827_1222+828insCACACATATATGTATACATATATACACA CATATATGTATACATA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCN2_chr22_30602174_30632271	30623921	T T	TGTATACA others(37): Show TGTATACATATATACACACACATATGTATACATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0040 a0003c0003t0004g0040	2	466	0.0043	44	c.122 others(61): Show c.1222+838_1222+839insGTATACATATATACACACACATATGTAT ACATATATACACACAC	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8			chr22	TogoVar
TCN2_chr22_30602174_30632271	30623967	C C	CACATATA others(37): Show CACATATATGTATACATATATACACACATATGTATACATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0067 a0005c0005t0002g0067	1	466	0.0022	44	c.122 others(61): Show c.1222+887_1222+888insTATATGTATACATATATACACACATATG TATACATATATATACA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCN2_chr22_30602174_30632271	30624049	C C	CATATATG others(37): Show CATATATGTATACATATATACACACACATATATGTATACATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0199 a0003c0003t0004g0199	1	466	0.0022	44	c.122 others(61): Show c.1222+967_1222+968insTATATGTATACATATATACACACACATA TATGTATACATATATA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCN2_chr22_30602174_30632271	30624049	C C	CATATGTA others(37): Show CATATGTATACATATATATACACACATATATATGTATACATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0122 a0004c0004t0005g0122	1	466	0.0022	44	c.122 others(61): Show c.1222+967_1222+968insTATGTATACATATATATACACACATATA TATGTATACATATATA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCP11L2_chr12_106297733_106352003	106302320	C C	CCCCCCGC others(37): Show CCCCCCGCTCAGCCCCCGCTCAGCCCCCGCTCAGCCCCCGCTCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0138 a0001c0001t0009g0138	1	344	0.0029	44	c.-65 others(53): Show c.-657_-656insCCCCCGCTCAGCCCCCGCTCAGCCCCCGCTCAGCCC CCGCTCAG	TCP11L2	ENSG00000166046.11	transcript	ENST00000299045.8	protein_coding		412		chr12	TogoVar
TCTN3_chr10_95658401_95698927	95672160	T T	TTGTGTGT others(37): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	400	0.0025	44	c.159 others(63): Show c.1591-7861_1591-7860insCACACACACACACACACACACACACA CACACACACACACACACA	TCTN3	ENSG00000119977.22	transcript	ENST00000371217.10	protein_coding	13/13			chr10	TogoVar
TDO2_chr4_155898696_155925406	155909880	C C	CCTCCCCT others(37): Show CCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03239.hp2 NA18943.hp1 HG02258.hp2 HG03239.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0167 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0167	3	377	0.0080	44	c.432 others(58): Show c.432-131_432-88dupCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTC	TDO2	ENSG00000151790.9	transcript	ENST00000536354.3	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TDRD12_chr19_32714767_32834580	32747023	T T	TGAGAGAG others(37): Show TGAGAGAGAGGAGGGGAGAGACTGGCTGAGGTGGTTATTCTGTGA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18994.hp2 NA18960.hp1 NA18994.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0194 a0002c0003t0001g0199 a0002c0003t0001g0194 a0002c0003t0001g0199	2	380	0.0053	44	c.441 others(61): Show c.441-1446_441-1445insAGGAGGGGAGAGACTGGCTGAGGTGGTT ATTCTGTGAGAGAGAG	TDRD12	ENSG00000173809.18	transcript	ENST00000639142.2	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr19	TogoVar
TDRD9_chr14_103923456_104057667	103981976	T T	TCTTGTCA others(37): Show TCTTGTCATGTTACCTCACCACACTGTCTGCTGTTACAAGGGAGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03098.hp2 HG02486.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0332 a0001c0001t0002g0274 a0001c0001t0002g0332	2	372	0.0054	44	c.101 others(63): Show c.1012-4196_1012-4153dupCTTGTCATGTTACCTCACCACACTGT CTGCTGTTACAAGGGAGA	TDRD9	ENSG00000156414.20	transcript	ENST00000409874.9	protein_coding	7/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
TEC_chr4_48130783_48274838	48160859	G G	GAGGAAGG others(37): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp2 others(42): Show HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00639.hp1 HG01257.hp2 HG01346.hp1 HG01515.hp1 HG02040.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02273.hp1 HG02735.hp2 HG03669.hp2 HG03688.hp2 NA18946.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA18974.hp2 NA18975.hp2 NA18983.hp1 NA18991.hp1 NA18998.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19063.hp2 NA19065.hp2 NA19078.hp2 NA19083.hp1 NA19085.hp1 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0020 a0001c0001t0021	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0029 others(42): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0195 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0266 a0001c0001t0001g0284 a0001c0001t0001g0293 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0144 a0001c0001t0020g0173 a0001c0001t0021g0251	45	346	0.1301	44	c.737 others(61): Show c.737+2842_737+2843insTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCT	TEC	ENSG00000135605.13	transcript	ENST00000381501.8	protein_coding	8/17			chr4	TogoVar
TEKT1_chr17_6792993_6836729	6793087	G G	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 NA18977.hp1 HG02071.hp1 NA18977.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0066 a0004c0005t0006g0283 a0004c0005t0006g0066 a0004c0005t0006g0283	2	406	0.0049	44	c.69 others(55): Show c.6939_*6940insTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding		4905		chr17	TogoVar
TEKT5_chr16_10622501_10699930	10624118	A A	AAAGGAAG others(37): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG02083.hp1 HG02738.hp2 others(10): Show HG00733.hp1 HG02083.hp1 HG02738.hp2 HG03654.hp1 HG04184.hp2 HG04228.hp2 NA18968.hp2 NA18980.hp2 NA18984.hp1 NA19012.hp2 NA19057.hp1 NA19086.hp1 NA19090.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0010	a0001c0001 a0001c0003 a0003c0004 others(2): Show a0001c0001 a0001c0003 a0003c0004 a0007c0010 a0010c0014	a0001c0001t0001 a0001c0003t0001 a0003c0004t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0003c0004t0001 a0007c0010t0001 a0010c0014t0001	a0001c0001t0001g0043 a0001c0001t0001g0066 a0001c0001t0001g0133 others(10): Show a0001c0001t0001g0043 a0001c0001t0001g0066 a0001c0001t0001g0133 a0001c0003t0001g0164 a0001c0003t0001g0225 a0001c0003t0001g0232 a0003c0004t0001g0318 a0003c0004t0001g0338 a0003c0004t0001g0339 a0003c0004t0001g0345 a0003c0004t0001g0367 a0007c0010t0001g0377 a0010c0014t0001g0138	13	388	0.0335	44	c.34 others(55): Show c.3464_*3465insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT	TEKT5	ENSG00000153060.8	transcript	ENST00000283025.7	protein_coding		3382		chr16	TogoVar

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Search Results (Total: 4475 hits)