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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
TMC6_chr17_78102397_78133755	78115849	G G	GGCGAAGG others(35): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0251 a0001c0001t0004g0251	1	444	0.0023	42	c.227 others(61): Show c.2277+1419_2277+1420insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115912	G G	GGCGAAGG others(35): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0081 a0001c0001t0007g0081	1	444	0.0023	42	c.227 others(61): Show c.2277+1356_2277+1357insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115915	G G	GAAGGGAG others(35): Show GAAGGGAGTGGGCACAGGAGCAAAGGGAGTGGGCACAGGGGCA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0045 a0004c0006t0002g0045	1	444	0.0023	42	c.227 others(61): Show c.2277+1353_2277+1354insTGCCCCTGTGCCCACTCCCTTTGCTC CTGTGCCCACTCCCTT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMCC2_chr1_205222946_205278343	205247843	C C	CAGGGTTG others(35): Show CAGGGTTGAGTCCAGCCCTGGCGGGGTTGAGTCCAGCCCTGGT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA19002.hp2 NA19007.hp1 others(1): Show NA18948.hp2 NA19002.hp2 NA19007.hp1 NA19066.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0016 a0001c0007t0001g0028 a0001c0007t0001g0272 a0001c0007t0001g0016 a0001c0007t0001g0028 a0001c0007t0001g0272	4	372	0.0108	42	c.747 others(59): Show c.747+5799_747+5800insAGGGTTGAGTCCAGCCCTGGCGGGGTTG AGTCCAGCCCTGGT	TMCC2	ENSG00000133069.17	transcript	ENST00000358024.8	protein_coding	2/4			chr1	TogoVar
TMCO3_chr13_113486021_113555229	113543288	C C	CGTGACCC others(35): Show CGTGACCCCCACCTCCTCCCCCTGTGCCCCACCCTCCCTGTGT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18964.hp1 NA18952.hp1 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0162 a0002c0003t0003g0288 a0001c0001t0001g0162 a0002c0003t0003g0288	2	368	0.0054	42	c.169 others(61): Show c.1690+3804_1690+3805insTGCCCCACCCTCCCTGTGTGTGACCC CCACCTCCTCCCCCTG	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMCO3_chr13_113486021_113555229	113543335	A A	ACCCCCAC others(35): Show ACCCCCACCTCCTCCCCCGTGCCCCACCCTCCCTGTGTGTGAC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0275 a0002c0003t0003g0275	1	368	0.0027	42	c.169 others(61): Show c.1690+3829_1690+3830insCCCCACCTCCTCCCCCGTGCCCCACC CTCCCTGTGTGTGACC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEFF1_chr9_100468149_100582636	100497320	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	242	0.0041	42	c.197 others(59): Show c.197-1421_197-1420insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	TMEFF1	ENSG00000241697.5	transcript	ENST00000374879.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMEFF2_chr2_191944046_192199933	191979842	C C	CTATATAT others(35): Show CTATATATATCTCTATCTATCTATCGATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	164	0.0061	42	c.745 others(61): Show c.745+18419_745+18420insTAGATAGATAGATAGATCGATAGATA GATAGAGATATATATA	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	7/9			chr2	TogoVar
TMEFF2_chr2_191944046_192199933	192089323	A A	AGGGACCA others(35): Show AGGGACCAAACAATCTTAGTCTTTTTTTCCCCCCAAAGGTTTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03130.hp1 HG03471.hp2 HG02895.hp2 HG03130.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0087 a0001c0001t0001g0121 a0001c0001t0001g0006 a0001c0001t0001g0087 a0001c0001t0001g0121	3	164	0.0183	42	c.440 others(61): Show c.440-31590_440-31549dupCAAACCTTTGGGGGGAAAAAAAGACT AAGATTGTTTGGTCCC	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	4/9			chr2	TogoVar
TMEM106A_chr17_43206875_43225041	43223459	T T	TACACACA others(35): Show TACACACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG02055.hp2 HG01943.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0037 a0001c0001t0002g0013 a0001c0001t0002g0037	2	374	0.0054	42	c.56 others(53): Show c.5658_*5659insACACACACACACACACACACACACACACACACAC ACACACAC	TMEM106A	ENSG00000184988.8	transcript	ENST00000612339.4	protein_coding		3419		chr17	TogoVar
TMEM108_chr3_133033391_133402775	133073510	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0147	1	220	0.0046	42	c.-47 others(61): Show c.-47+27491_-47+27492insCTCTCTCTCTCTCTCTCTCTCTCTAT ATATATATATATATAT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133073510	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	220	0.0046	42	c.-47 others(61): Show c.-47+27491_-47+27492insCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATATATATATAT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133342544	G G	GTGTATAT others(35): Show GTGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	220	0.0046	42	c.41- others(59): Show c.41-37207_41-37206insGTATATATATATATATATATATATATAT ATATATATATATAT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133342555	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	220	0.0046	42	c.41- others(59): Show c.41-37196_41-37195insTATATATATATATATATATATATATATA TATATACACACACA	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133342555	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG04115.hp1 HG03540.hp2 HG04115.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0002 a0004c0011t0008 a0001c0001t0002 a0004c0011t0008	a0001c0001t0002g0189 a0004c0011t0008g0103 a0001c0001t0002g0189 a0004c0011t0008g0103	2	220	0.0091	42	c.41- others(59): Show c.41-37196_41-37195insTATATATATATATATATATATATATATA TATATATATATACA	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM120A_chr7_75981831_75999595	75989104	G G	GGGTGGAG others(35): Show GGGTGGAGGTTGAGGGGGGGAGGGGTGGAGGTTGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00738.hp2 others(32): Show HG00323.hp1 HG00423.hp1 HG00738.hp2 HG01081.hp2 HG01167.hp2 HG01168.hp1 HG01256.hp1 HG01258.hp1 HG01928.hp1 HG01943.hp1 HG02004.hp2 HG02040.hp2 HG02080.hp1 HG02148.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp2 HG03017.hp2 HG03492.hp2 NA18612.hp1 NA18945.hp1 NA18951.hp2 NA18954.hp2 NA18963.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18981.hp1 NA18990.hp2 NA19004.hp1 NA19012.hp1 NA19054.hp2 NA19081.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0004t0001 a0003c0005t0001 a0001c0001t0001 a0001c0004t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0004t0001g0094 a0003c0005t0001g0038	35	368	0.0951	42	c.377 others(55): Show c.377+60_377+61insTCCCCCCCTCAACCTCCACCCCTCCCCCCCTC AACCTCCACC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120B_chr12_121707752_121787068	121747385	C C	CGGGAGGC others(35): Show CGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAAAAGGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0085 a0002c0002t0003g0085	1	314	0.0032	42	c.189 others(57): Show c.189-934_189-933insACTGGGGTAGAAGGTGGGAGGCTGGGGTAA AAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747391	G G	GCTGGGGT others(35): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	314	0.0032	42	c.189 others(57): Show c.189-922_189-921insTGGGAGGCTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747471	G G	GCACTGGG others(35): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0047 a0005c0006t0047	a0005c0006t0047g0144 a0005c0006t0047g0144	1	314	0.0032	42	c.189 others(57): Show c.189-854_189-853insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGTC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747485	C C	CGGGAGTC others(35): Show CGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03516.hp2 NA18999.hp2 HG03041.hp2 HG03516.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0012 a0002c0002t0086 a0002c0002t0007 a0002c0002t0012 a0002c0002t0086	a0002c0002t0007g0200 a0002c0002t0012g0163 a0002c0002t0086g0291 a0002c0002t0007g0200 a0002c0002t0012g0163 a0002c0002t0086g0291	3	314	0.0096	42	c.189 others(57): Show c.189-836_189-835insTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGTGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747520	G G	GAAGGCGG others(35): Show GAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0247 a0001c0001t0003g0247	1	314	0.0032	42	c.189 others(57): Show c.189-794_189-793insACTGGGGTAGAAGGCGGGAGGCTGGGGTAA AAGGCGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747545	C C	TGGGAGGC others(35): Show TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0191 a0002c0002t0007g0191	1	314	0.0032	42	c.189 others(57): Show c.189-782_189-781insTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747565	C C	CGGGAGGC others(35): Show CGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0101 a0001c0001t0015g0101	1	314	0.0032	42	c.189 others(57): Show c.189-754_189-753insTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747593	G G	GCTGGGGT others(35): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0094 a0002c0002t0094	a0002c0002t0094g0157 a0002c0002t0094g0157	1	314	0.0032	42	c.189 others(57): Show c.189-700_189-699insTGGGAGGCACTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747693	G G	GCTGGGGT others(35): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0192 a0002c0002t0002g0192	1	314	0.0032	42	c.189 others(57): Show c.189-620_189-619insTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747707	C C	CGGGAGGC others(35): Show CGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0278 a0002c0002t0003g0278	1	314	0.0032	42	c.189 others(57): Show c.189-600_189-599insTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747713	G G	GCTGGGGT others(35): Show GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0239 a0002c0002t0001g0239	1	314	0.0032	42	c.189 others(57): Show c.189-600_189-599insTGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747753	G G	GCACTGGG others(35): Show GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0274 a0003c0003t0002g0274	1	314	0.0032	42	c.189 others(57): Show c.189-572_189-571insACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGTC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747773	G G	GCTGGGGT others(35): Show GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0224 a0002c0002t0004g0224	1	314	0.0032	42	c.189 others(57): Show c.189-534_189-533insTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747813	G G	GCTGGGGT others(35): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0106 a0001c0001t0005g0106	1	314	0.0032	42	c.189 others(57): Show c.189-472_189-471insACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747813	G G	GCTGGGGT others(35): Show GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0201 a0002c0002t0001g0201	1	314	0.0032	42	c.189 others(57): Show c.189-494_189-493insTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747853	G G	GCTGGGGT others(35): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	314	0.0032	42	c.189 others(57): Show c.189-460_189-459insCGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747853	G G	GCTGGGGT others(35): Show GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0229 a0002c0002t0004g0229	1	314	0.0032	42	c.189 others(57): Show c.189-460_189-459insCGGGAGTCTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747942	G G	GGTAGAAG others(35): Show GGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGACACTGAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	314	0.0032	42	c.189 others(57): Show c.189-368_189-367insTGGGGTAGAAGGTGGGAGACACTGAAGTAG AAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121748021	G G	GCACTGGG others(35): Show GCACTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	314	0.0032	42	c.189 others(57): Show c.189-304_189-303insACTGGGGTAGAAGGTGGGAGTCTGGGGTAG AAGGCGGGAGTC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121748021	G G	GCACTGGG others(35): Show GCACTGGGTAGAAGGTGGGAGGCTGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0033 a0001c0001t0006g0033	1	314	0.0032	42	c.189 others(57): Show c.189-304_189-303insACTGGGTAGAAGGTGGGAGGCTGGGTAGAA GGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121748026	G G	GGTAGAAG others(35): Show GGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGACACTGAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01123.hp2 HG01433.hp1 others(16): Show HG00544.hp2 HG01123.hp2 HG01433.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02717.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp2 HG03710.hp2 HG04228.hp1 NA18522.hp1 NA19003.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0029 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0001t0072 a0001c0001t0075 a0001c0001t0083 a0001c0001t0108	a0001c0001t0001g0104 a0001c0001t0001g0313 a0001c0001t0004g0203 others(16): Show a0001c0001t0001g0104 a0001c0001t0001g0313 a0001c0001t0004g0203 a0001c0001t0004g0233 a0001c0001t0005g0040 a0001c0001t0005g0081 a0001c0001t0011g0002 a0001c0001t0011g0102 a0001c0001t0011g0110 a0001c0001t0011g0280 a0001c0001t0029g0076 a0001c0001t0029g0077 a0001c0001t0050g0155 a0001c0001t0051g0154 a0001c0001t0054g0093 a0001c0001t0072g0100 a0001c0001t0075g0181 a0001c0001t0083g0114 a0001c0001t0108g0156	19	314	0.0605	42	c.189 others(57): Show c.189-284_189-283insTGGGGTAGAAGGTGGGAGACACTGAAGTAG AAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121748043	A A	ACTGAAGT others(35): Show ACTGAAGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19074.hp2 HG01934.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0008 a0001c0001t0011	a0001c0001t0008g0115 a0001c0001t0011g0119 a0001c0001t0008g0115 a0001c0001t0011g0119	2	314	0.0064	42	c.189 others(57): Show c.189-280_189-279insAAGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM121_chr14_105521583_105535198	105521599	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG02723.hp1 HG01169.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	2	352	0.0057	42	c.-51 others(53): Show c.-5168_-5167insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	TMEM121	ENSG00000184986.12	transcript	ENST00000392519.7	protein_coding		4983		chr14	TogoVar
TMEM130_chr7_98841490_98875014	98842382	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0245 a0001c0001t0004g0245	1	380	0.0026	42	c.56 others(53): Show c.5673_*5674insATATATATATATATATATATATATATATATATAT ATATATAT	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding		4107		chr7	TogoVar
TMEM130_chr7_98841490_98875014	98842386	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	380	0.0026	42	c.56 others(53): Show c.5669_*5670insATATATATATATATATATATATATATATATATAT ATATATAT	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding		4103		chr7	TogoVar
TMEM130_chr7_98841490_98875014	98842402	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0131 a0001c0001t0004g0131	1	380	0.0026	42	c.56 others(53): Show c.5653_*5654insGTATATATATATATATATATATATATATATATAT ATATATAT	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding		4087		chr7	TogoVar
TMEM132B_chr12_125181386_125667369	125410401	T T	TGATGGAG others(35): Show TGATGGAGTGGAGTGAGTGGAGTGGAGTGAGTGGAGTGGAGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03225.hp1 HG02630.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0012 a0001c0003 a0001c0012	a0001c0003t0045 a0001c0012t0048 a0001c0003t0045 a0001c0012t0048	a0001c0003t0045g0047 a0001c0012t0048g0068 a0001c0003t0045g0047 a0001c0012t0048g0068	2	128	0.0156	42	c.960 others(59): Show c.960-5128_960-5127insTGGAGTGGAGTGAGTGGAGTGGAGTGAG TGGAGTGGAGTGGA	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125410554	G G	GGAGTGGA others(35): Show GGAGTGGAGTGAGTGGAGTGGAGTGAGTGGAGTGGAGTGGAGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01361.hp1 HG01433.hp2 HG00735.hp1 HG01361.hp1 HG01433.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0002c0006 a0001c0004 a0002c0001 a0002c0006	a0001c0004t0001 a0002c0001t0036 a0002c0006t0003 a0001c0004t0001 a0002c0001t0036 a0002c0006t0003	a0001c0004t0001g0081 a0002c0001t0036g0011 a0002c0006t0003g0003 a0001c0004t0001g0081 a0002c0001t0036g0011 a0002c0006t0003g0003	3	128	0.0234	42	c.960 others(59): Show c.960-4967_960-4966insAGTGGAGTGGAGTGAGTGGAGTGGAGTG GAGTGAGTGGAGTG	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125575078	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0011 a0002c0022t0011	a0002c0022t0011g0092 a0002c0022t0011g0092	1	128	0.0078	42	c.129 others(61): Show c.1294-8768_1294-8767insATATATATATATATATATATATATAT ATATATATATTTATAT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128285779	C C	CTCTCTCT others(35): Show CTCTCTCTCTCCCCATCTCTATCCCTCTCTCCCTTTCTCTCTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0005 a0005	a0005c0048 a0005c0048	a0005c0048t0002 a0005c0048t0002	a0005c0048t0002g0115 a0005c0048t0002g0115	1	170	0.0059	42	c.85+ others(59): Show c.85+18441_85+18482dupCCTCTCTCCCTTTCTCTCTTTCTCTCTC TCCCCATCTCTATC	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128285844	C C	CCTCTCTC others(35): Show CCTCTCTCCCTTTCTCTCTTTCTCTCTCTCCCCATCTCTATCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02622.hp1 others(3): Show HG01884.hp2 HG02486.hp2 HG02622.hp1 HG02896.hp1 HG02922.hp1 HG03098.hp2	a0003 a0004 a0005 others(1): Show a0003 a0004 a0005 a0007	a0003c0073 a0004c0013 a0004c0059 others(2): Show a0003c0073 a0004c0013 a0004c0059 a0005c0005 a0007c0017	a0003c0073t0009 a0004c0013t0002 a0004c0059t0002 others(2): Show a0003c0073t0009 a0004c0013t0002 a0004c0059t0002 a0005c0005t0002 a0007c0017t0003	a0003c0073t0009g0066 a0004c0013t0002g0065 a0004c0059t0002g0062 others(3): Show a0003c0073t0009g0066 a0004c0013t0002g0065 a0004c0059t0002g0062 a0005c0005t0002g0064 a0007c0017t0003g0018 a0007c0017t0003g0063	6	170	0.0353	42	c.85+ others(59): Show c.85+18398_85+18399insTCTCTCTCCCTTTCTCTCTTTCTCTCTC TCCCCATCTCTATC	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128338757	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01891.hp1 HG02976.hp2 HG01070.hp1 HG01891.hp1 HG02976.hp2	a0004 a0006 a0004 a0006	a0004c0008 a0004c0061 a0006c0024 a0004c0008 a0004c0061 a0006c0024	a0004c0008t0003 a0004c0061t0005 a0006c0024t0002 a0004c0008t0003 a0004c0061t0005 a0006c0024t0002	a0004c0008t0003g0010 a0004c0061t0005g0046 a0006c0024t0002g0087 a0004c0008t0003g0010 a0004c0061t0005g0046 a0006c0024t0002g0087	3	170	0.0177	42	c.85+ others(59): Show c.85+71290_85+71291insATATATATATATATATATATATATATAT ATATATATATATAT	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129673192	A A	ACTATATA others(35): Show ACTATATATTACTCTATACTATATATATTATTATATATATATT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0041 a0001c0006t0002g0041	1	94	0.0106	42	c.968 others(61): Show c.968+26617_968+26618insAATATATATATAATAATATATATAGT ATAGAGTAATATATAG	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129813611	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0064 a0001c0010t0005g0064	1	94	0.0106	42	c.79+ others(59): Show c.79+89649_79+89650insATATATATATATATATATATATATATAT ATATATATATATAT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar

Search by Variant

Search

Search Results (Total: 5093 hits)