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
TMEM108_chr3_133033391_133402775	133057433	G G	GTATGTAT others(37): Show GTATGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0104 a0001c0001t0008g0104	1	220	0.0046	44	c.-47 others(63): Show c.-47+11414_-47+11415insATGTATATATATATATATATATATAT ATATATATATATATATAT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133078140	A A	AGTGTGTG others(37): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18906.hp1 HG02717.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0089 a0001c0001t0006g0093 a0001c0001t0003g0089 a0001c0001t0006g0093	2	220	0.0091	44	c.-47 others(63): Show c.-47+32139_-47+32140insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTG	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(37): Show GTGTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03239.hp1 NA18963.hp1 HG02523.hp2 HG03239.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0087 a0001c0001t0002g0153 a0001c0001t0002g0051 a0001c0001t0002g0087 a0001c0001t0002g0153	3	220	0.0136	44	c.41- others(61): Show c.41-37207_41-37206insGTATATATATATATATATATATATATAT ATATATATATATATAT	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(37): Show TATATATATATATATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	220	0.0046	44	c.41- others(61): Show c.41-37196_41-37195insTATATATATATATATATATATATATATA TATATACACACACACA	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(37): Show TATATATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	220	0.0046	44	c.41- others(61): Show c.41-37196_41-37195insTATATATATATATATATATATATATATA TATATATACACACACA	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(37): Show TATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0099 a0001c0001t0016g0099	1	220	0.0046	44	c.41- others(61): Show c.41-37196_41-37195insTATATATATATATATATATATATATATA TATATATATATATACA	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM114_chr16_8564500_8595511	8574582	C C	CTTCTTTC others(37): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	416	0.0024	44	c.302 others(61): Show c.302-2359_302-2358insAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	TMEM114	ENSG00000232258.7	transcript	ENST00000620492.5	protein_coding	2/3			chr16	TogoVar
TMEM120A_chr7_75981831_75999595	75989077	T T	TGGAGGGG others(37): Show TGGAGGGGTGGAGGTTGAGGGGGGGAGGGGTGGAGGTTGAGGGGG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01074.hp2 HG01169.hp2 others(20): Show HG01071.hp1 HG01074.hp2 HG01169.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01952.hp2 HG01975.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02735.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG04199.hp1 NA18966.hp1 NA19002.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0002 a0001c0007t0001 a0001c0001t0001 a0001c0002t0002 a0001c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0002t0002g0265 a0001c0007t0001g0059	23	368	0.0625	44	c.377 others(57): Show c.377+87_377+88insCCCCCTCAACCTCCACCCCTCCCCCCCTCAAC CTCCACCCCTCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75989104	G G	GGGTGGAG others(37): Show GGGTGGAGGTTGAGGGGGGGGAGGGGTGGAGGTTGAGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18975.hp1 HG02809.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0120 a0001c0001t0001g0068 a0001c0001t0001g0120	2	368	0.0054	44	c.377 others(57): Show c.377+60_377+61insTCCCCCCCCTCAACCTCCACCCCTCCCCCCCC TCAACCTCCACC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120B_chr12_121707752_121787068	121747451	G G	GCACTGGG others(37): Show GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0292 a0002c0002t0008g0292	1	314	0.0032	44	c.189 others(59): Show c.189-874_189-873insACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGTC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747491	G G	GCACTGGG others(37): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0086 a0002c0002t0018g0086	1	314	0.0032	44	c.189 others(59): Show c.189-834_189-833insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747653	G G	GCTGGGGT others(37): Show GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	314	0.0032	44	c.189 others(59): Show c.189-660_189-659insTGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGG	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(37): Show GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0293 a0002c0002t0008g0293	1	314	0.0032	44	c.189 others(59): Show c.189-572_189-571insACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGTC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747767	C C	CGGGAGGC others(37): Show CGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0032 a0001c0001t0010g0032	1	314	0.0032	44	c.189 others(59): Show c.189-552_189-551insACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747895	G G	GCACTGGG others(37): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19074.hp1 NA18960.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0029 a0001c0001t0019g0034 a0001c0001t0019g0029 a0001c0001t0019g0034	2	314	0.0064	44	c.189 others(59): Show c.189-430_189-429insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGCGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747937	G G	GCACTGGG others(37): Show GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0270 a0001c0001t0004g0270	1	314	0.0032	44	c.189 others(59): Show c.189-388_189-387insACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747979	G G	GCACTGGG others(37): Show GCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0083 a0001c0001t0102g0083	1	314	0.0032	44	c.189 others(59): Show c.189-346_189-345insACTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121748125	G G	GCACTGGG others(37): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19063.hp1 HG00423.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0099 a0001c0001t0007g0266 a0001c0001t0001g0099 a0001c0001t0007g0266	2	314	0.0064	44	c.189 others(59): Show c.189-200_189-199insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCAC	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(37): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	352	0.0028	44	c.-51 others(55): Show c.-5168_-5167insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTC	TMEM121	ENSG00000184986.12	transcript	ENST00000392519.7	protein_coding		4983		chr14	TogoVar
TMEM130_chr7_98841490_98875014	98842382	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	380	0.0026	44	c.56 others(55): Show c.5673_*5674insATATATATATATATATATATATATATATATATAT ATATATATAT	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding		4107		chr7	TogoVar
TMEM130_chr7_98841490_98875014	98842402	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp2 NA19060.hp1 HG00438.hp1 HG00544.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0309 a0001c0002t0004g0083 a0001c0002t0004g0310 a0001c0001t0004g0309 a0001c0002t0004g0083 a0001c0002t0004g0310	3	380	0.0079	44	c.56 others(55): Show c.5653_*5654insGTATATATATATATATATATATATATATATATAT ATATATATAT	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding		4087		chr7	TogoVar
TMEM132C_chr12_128262170_128712911	128294991	A A	ATAGATAG others(37): Show ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0008 a0008	a0008c0028 a0008c0028	a0008c0028t0001 a0008c0028t0001	a0008c0028t0001g0140 a0008c0028t0001g0140	1	170	0.0059	44	c.85+ others(61): Show c.85+27515_85+27516insATAGATAGATAGATAGATAGATAGATAG ATAGGTAGATAGATAG	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128315448	C C	CACGAGGG others(37): Show CACGAGGGAGCATCTGTGCCTGTCTCTCCCAGCTTCTGGTGGCCG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0011 a0010c0015t0011	a0010c0015t0011g0007 a0010c0015t0011g0007	1	170	0.0059	44	c.85+ others(61): Show c.85+47961_85+47962insACGAGGGAGCATCTGTGCCTGTCTCTCC CAGCTTCTGGTGGCCG	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	1/8			chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128338757	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG02622.hp1 HG02886.hp2	a0006 a0007 a0006 a0007	a0006c0024 a0007c0017 a0006c0024 a0007c0017	a0006c0024t0002 a0007c0017t0003 a0006c0024t0002 a0007c0017t0003	a0006c0024t0002g0141 a0007c0017t0003g0063 a0006c0024t0002g0141 a0007c0017t0003g0063	2	170	0.0118	44	c.85+ others(61): Show c.85+71290_85+71291insATATATATATATATATATATATATATAT ATATATATATATATAT	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128464790	A A	AAGAGAGA others(37): Show AAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 HG02896.hp2 others(1): Show HG02145.hp2 HG02723.hp2 HG02896.hp2 HG02922.hp1	a0003 a0006 a0007 others(1): Show a0003 a0006 a0007 a0011	a0003c0010 a0006c0025 a0007c0017 others(1): Show a0003c0010 a0006c0025 a0007c0017 a0011c0014	a0003c0010t0003 a0006c0025t0005 a0007c0017t0003 others(1): Show a0003c0010t0003 a0006c0025t0005 a0007c0017t0003 a0011c0014t0001	a0003c0010t0003g0067 a0006c0025t0005g0012 a0007c0017t0003g0018 others(1): Show a0003c0010t0003g0067 a0006c0025t0005g0012 a0007c0017t0003g0018 a0011c0014t0001g0127	4	170	0.0235	44	c.974 others(63): Show c.974+49176_974+49177insAAAGAGAGAAAGAGAGAAAGAGAGAA AGAGAGAAAGAGAGAGAG	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132E_chr17_34574582_34644318	34627466	T T	TCGTGTGT others(37): Show TCGTGTGTGCGTGCGCGCACGCGCGCGCGCGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0155 a0001c0001t0099g0155	1	404	0.0025	44	c.998 others(59): Show c.998+417_998+418insCGTGCGCGCACGCGCGCGCGCGCGCGCGCG CGCGCGCGTGTGTG	TMEM132E	ENSG00000181291.8	transcript	ENST00000631683.2	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
TMEM14A_chr6_52666113_52691588	52680669	G G	GTATATAT others(37): Show GTATATATATACATATATGTATATATATATATACATATATGTATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	426	0.0024	44	c.71- others(59): Show c.71-1134_71-1133insCATATATGTATATATATATATACATATATG TATATATATATATA	TMEM14A	ENSG00000096092.6	transcript	ENST00000211314.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM14A_chr6_52666113_52691588	52680669	G G	GTATATAT others(37): Show GTATATATATATACATATATGTATATATATATACATATATGTATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp1 HG00741.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	426	0.0047	44	c.71- others(59): Show c.71-1132_71-1131insCATATATGTATATATATATACATATATGTA TATATATATATATA	TMEM14A	ENSG00000096092.6	transcript	ENST00000211314.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM14A_chr6_52666113_52691588	52680669	G G	GTATATAT others(37): Show GTATATATATATATACATATATGTATATATATACATATATGTATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	426	0.0024	44	c.71- others(59): Show c.71-1112_71-1111insCATATATGTATATATATATATATATACATA TATGTATATATATA	TMEM14A	ENSG00000096092.6	transcript	ENST00000211314.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM14A_chr6_52666113_52691588	52680669	G G	GTATATAT others(37): Show GTATATATATATATACATATATGTATATATATATACATATATGTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03471.hp1 HG02818.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0103 a0001c0001t0001g0105	2	426	0.0047	44	c.71- others(59): Show c.71-1110_71-1109insCATATATGTATATATATATATATACATATA TGTATATATATATA	TMEM14A	ENSG00000096092.6	transcript	ENST00000211314.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM14A_chr6_52666113_52691588	52680704	T T	TACATATA others(37): Show TACATATATGTGTATATATATATATACATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp2 HG03139.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0084 a0001c0001t0001g0089	2	426	0.0047	44	c.71- others(59): Show c.71-1106_71-1105insTATATGTGTATATATATATATACATATATA TATATATATACACA	TMEM14A	ENSG00000096092.6	transcript	ENST00000211314.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM164_chrX_109998114_110182788	110017405	C C	CCTTTCTT others(37): Show CCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0182 a0001c0001t0005g0182	1	198	0.0051	44	c.390 others(63): Show c.390+13254_390+13255insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	TMEM164	ENSG00000157600.12	transcript	ENST00000372068.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
TMEM171_chr5_73115575_73136809	73127384	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	450	0.0022	44	c.641 others(61): Show c.641-1005_641-1004insAAAAAAAAAAAATATATATATATATATA TATATATATATATATA	TMEM171	ENSG00000157111.13	transcript	ENST00000454765.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
TMEM181_chr6_158555091_158640429	158636069	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0079 a0001c0001t0027g0079	1	334	0.0030	44	c.41 others(55): Show c.4181_*4182insTATATATATATATATATATATATATATTTTTTTT TTTTTTTTTT	TMEM181	ENSG00000146433.10	transcript	ENST00000684151.1	protein_coding		641		chr6	TogoVar
TMEM184A_chr7_1537235_1561205	1551185	C C	CGGTACCC others(37): Show CGGTACCCCTGCACAAGCCCAGGTGAGCCGGGAAGGAGGTGGGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02818.hp1 HG02257.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0004 a0001c0001t0018	a0001c0001t0004g0123 a0001c0001t0018g0122 a0001c0001t0004g0123 a0001c0001t0018g0122	2	420	0.0048	44	c.220 others(59): Show c.220-204_220-203insCCCCCACCTCCTTCCCGGCTCACCTGGGCT TGTGCAGGGGTACC	TMEM184A	ENSG00000164855.16	transcript	ENST00000297477.10	protein_coding	2/8			chr7	TogoVar
TMEM184A_chr7_1537235_1561205	1551185	C C	CGGTACCC others(37): Show CGGTACCCCTGCACCAGCCCAGGTGAGCCGGGAAGGAGGTGGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp2 HG02886.hp1 others(3): Show HG01243.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG03225.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0035 a0001c0001t0003 a0001c0001t0004 a0001c0001t0035	a0001c0001t0003g0120 a0001c0001t0004g0032 a0001c0001t0004g0107 others(2): Show a0001c0001t0003g0120 a0001c0001t0004g0032 a0001c0001t0004g0107 a0001c0001t0004g0121 a0001c0001t0035g0118	6	420	0.0143	44	c.220 others(59): Show c.220-204_220-203insCCCCCACCTCCTTCCCGGCTCACCTGGGCT GGTGCAGGGGTACC	TMEM184A	ENSG00000164855.16	transcript	ENST00000297477.10	protein_coding	2/8			chr7	TogoVar
TMEM185A_chrX_149591556_149636792	149605308	A A	ACTATGGC others(37): Show ACTATGGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0077 a0001c0001t0056g0077	1	259	0.0039	44	c.424 others(61): Show c.424-1282_424-1239dupAAAGTGACATGGGAGGCCATAGAAAGTG ACATGGGAGGCCATAG	TMEM185A	ENSG00000269556.9	transcript	ENST00000600449.8	protein_coding	3/6			chrX	TogoVar
TMEM185A_chrX_149591556_149636792	149605401	A A	AGCCTCCC others(37): Show AGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTTTCTATG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0194 a0001c0001t0006g0194	1	259	0.0039	44	c.424 others(61): Show c.424-1332_424-1331insCATAGAAAGTGACATGGGAGGCCATAGA AAGTGACATGGGAGGC	TMEM185A	ENSG00000269556.9	transcript	ENST00000600449.8	protein_coding	3/6			chrX	TogoVar
TMEM185A_chrX_149591556_149636792	149605493	A A	ATGTCACT others(37): Show ATGTCACTTTCTATGGCCTCCCATGTCACTTTCTATGGCCTCCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19030.hp1 HG02280.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0013	2	259	0.0077	44	c.424 others(61): Show c.424-1424_424-1423insAGGGAGGCCATAGAAAGTGACATGGGAG GCCATAGAAAGTGACA	TMEM185A	ENSG00000269556.9	transcript	ENST00000600449.8	protein_coding	3/6			chrX	TogoVar
TMEM199_chr17_28352647_28368683	28353520	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02040.hp2 HG03704.hp1 others(2): Show HG00544.hp2 HG02040.hp2 HG03704.hp1 NA18980.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0002 a0002c0003t0021 a0002c0002t0002 a0002c0003t0002 a0002c0003t0021	a0002c0002t0002g0002 a0002c0003t0002g0002 a0002c0003t0021g0002 a0002c0002t0002g0002 a0002c0003t0002g0002 a0002c0003t0021g0002	5	372	0.0134	44	c.-41 others(55): Show c.-4151_-4150insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	TMEM199	ENSG00000244045.13	transcript	ENST00000292114.8	protein_coding		4126		chr17	TogoVar
TMEM207_chr3_190423655_190454901	190424819	G G	GGCGAATT others(37): Show GGCGAATTGCTTCAACCTACCTGGAAGGTGGAGGTTGCAGTGCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG02809.hp1 HG02965.hp2 others(2): Show HG00099.hp2 HG02809.hp1 HG02965.hp2 HG03453.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0128 a0001c0001t0002g0215 a0001c0001t0002g0027 a0001c0001t0002g0128 a0001c0001t0002g0215	5	466	0.0107	44	c.47 others(55): Show c.4775_*4776insGTGCACTGCAACCTCCACCTTCCAGGTAGGTTGA AGCAATTCGC	TMEM207	ENSG00000198398.3	transcript	ENST00000354905.3	protein_coding		3835		chr3	TogoVar
TMEM221_chr19_17430509_17453668	17453089	T T	TAATATAT others(37): Show TAATATATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0049 a0001c0001t0007g0049	1	422	0.0024	44	c.-46 others(55): Show c.-4628_-4627insTATATATATATATATATATATATATATATATATA TATATATATT	TMEM221	ENSG00000188051.7	transcript	ENST00000341130.6	protein_coding		4422		chr19	TogoVar
TMEM232_chr5_110414496_110731671	110508886	G G	GTATATAT others(37): Show GTATATATGTATATATATAAAATTATATATATGTATATATATAAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG02895.hp1 others(4): Show HG01891.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp1 HG03195.hp1 HG03209.hp2 HG03579.hp1	a0005 a0013 a0005 a0013	a0005c0006 a0013c0016 a0005c0006 a0013c0016	a0005c0006t0004 a0013c0016t0004 a0005c0006t0004 a0013c0016t0004	a0005c0006t0004g0212 a0005c0006t0004g0213 a0005c0006t0004g0214 others(4): Show a0005c0006t0004g0212 a0005c0006t0004g0213 a0005c0006t0004g0214 a0005c0006t0004g0215 a0005c0006t0004g0218 a0013c0016t0004g0216 a0013c0016t0004g0217	7	250	0.0280	44	c.170 others(65): Show c.1703+19658_1703+19701dupATTATATATATACATATATATAAT TTTATATATATACATATATA	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	12/13			chr5	TogoVar
TMEM232_chr5_110414496_110731671	110705723	T T	TATACACA others(37): Show TATACACACACACACATATATGTGTGTGTATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp2 HG01109.hp1 others(7): Show HG00140.hp1 HG01069.hp2 HG01109.hp1 HG01261.hp1 HG01433.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG02027.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0001 a0001c0005t0002 a0002c0003t0002 a0001c0005t0001 a0001c0005t0002 a0002c0003t0002	a0001c0005t0001g0225 a0001c0005t0001g0229 a0001c0005t0001g0230 others(7): Show a0001c0005t0001g0225 a0001c0005t0001g0229 a0001c0005t0001g0230 a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0002g0232 a0002c0003t0002g0224 a0002c0003t0002g0226 a0002c0003t0002g0231 a0002c0003t0002g0233	10	250	0.0400	44	c.-13 others(63): Show c.-13+20903_-13+20904insGTATATATATATATATACACACACAT ATATGTGTGTGTGTGTAT	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	1/13			chr5	TogoVar
TMEM232_chr5_110414496_110731671	110721671	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0244 a0003c0004t0003g0244	1	250	0.0040	44	c.-13 others(61): Show c.-13+4955_-13+4956insTATATATATATATATATATATATATATA TATATATATATATATA	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	1/13			chr5	TogoVar
TMEM232_chr5_110414496_110731671	110721673	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp2 HG01192.hp1 others(14): Show HG01106.hp1 HG01175.hp2 HG01192.hp1 HG01515.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02148.hp1 HG02148.hp2 HG02572.hp2 HG04199.hp1 NA18944.hp1 NA18948.hp2 NA18963.hp1 NA19003.hp2 NA19064.hp1 NA19087.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0009 others(2): Show a0001c0001 a0001c0002 a0002c0009 a0002c0023 a0003c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0009t0009 a0002c0023t0002 a0003c0004t0003	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 others(14): Show a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0136 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0002t0001g0144 a0001c0002t0002g0032 a0001c0002t0002g0129 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0002c0009t0009g0098 a0002c0023t0002g0130 a0003c0004t0003g0243	17	250	0.0680	44	c.-13 others(61): Show c.-13+4953_-13+4954insTATATATATATATATATATATATATATA TATATATATATATATA	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	1/13			chr5	TogoVar
TMEM232_chr5_110414496_110731671	110721673	G G	GTGTATAT others(37): Show GTGTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00597.hp2 others(7): Show HG00099.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG02165.hp2 HG04184.hp1 NA18950.hp1 NA18986.hp1 NA19007.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0009 a0001c0001 a0001c0002 a0002c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0002c0009t0002	a0001c0001t0001g0029 a0001c0001t0001g0074 a0001c0001t0001g0075 others(7): Show a0001c0001t0001g0029 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0003g0073 a0001c0002t0002g0122 a0002c0009t0002g0192	10	250	0.0400	44	c.-13 others(61): Show c.-13+4953_-13+4954insTATATATATATATATATATATATATATA TATATATATATATACA	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	1/13			chr5	TogoVar
TMEM232_chr5_110414496_110731671	110721673	G G	GTGTGTAT others(37): Show GTGTGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	250	0.0040	44	c.-13 others(61): Show c.-13+4953_-13+4954insTATATATATATATATATATATATATATA TATATATATATACACA	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	1/13			chr5	TogoVar
TMEM242_chr6_157284025_157328519	157327858	A A	AAAATATA others(37): Show AAAATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 NA19009.hp2 HG03831.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0092 a0001c0001t0006g0098 a0001c0001t0004g0092 a0001c0001t0006g0098	2	344	0.0058	44	c.-43 others(55): Show c.-4360_-4359insATATATATATATATATATATATATATATATATAT ATATATATTT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding		4340		chr6	TogoVar
TMEM254_chr10_80073665_80097551	80093152	A A	AATATATA others(37): Show AATATATATTTTTATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA19080.hp1 HG00558.hp2 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0003	2	390	0.0051	44	c.22 others(55): Show c.2235_*2236insATATATATTTTTATATATATATATATATATATAT ATATATATAT	TMEM254	ENSG00000133678.14	transcript	ENST00000372281.8	protein_coding		602		chr10	TogoVar

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Search Results (Total: 4475 hits)