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	133073510	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0146	1	220	0.0046	40	c.-47 others(59): Show c.-47+27491_-47+27492insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTATATATATAT	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(33): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0003 a0003c0009t0003	a0003c0009t0003g0073 a0003c0009t0003g0073	1	220	0.0046	40	c.-47 others(59): Show c.-47+32139_-47+32140insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTG	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133342544	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0018 a0001c0001t0012g0018	1	220	0.0046	40	c.41- others(57): Show c.41-37196_41-37195insTATATATATATATATATATATATATATA TATATATATATA	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133342544	G G	GTGTATAT others(33): Show GTGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18956.hp1 NA18977.hp1 others(3): Show HG03942.hp2 NA18956.hp1 NA18977.hp1 NA18988.hp1 NA19043.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0001	a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0077 others(3): Show a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0077 a0001c0001t0002g0186 a0001c0001t0009g0042 a0001c0002t0001g0061	6	220	0.0273	40	c.41- others(57): Show c.41-37207_41-37206insGTATATATATATATATATATATATATAT ATATATATATAT	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(33): Show TATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	220	0.0046	40	c.41- others(57): Show c.41-37196_41-37195insTATATATATATATATATATATATATATA TATACACACACA	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(33): Show TATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	220	0.0046	40	c.41- others(57): Show c.41-37196_41-37195insTATATATATATATATATATATATATATA TATATATACACA	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(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02896.hp1 HG03710.hp1 others(2): Show HG00323.hp1 HG02896.hp1 HG03710.hp1 HG04115.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0002	a0001c0001t0001g0137 a0001c0001t0002g0128 a0001c0001t0002g0139 others(2): Show a0001c0001t0001g0137 a0001c0001t0002g0128 a0001c0001t0002g0139 a0001c0001t0008g0104 a0001c0002t0002g0140	5	220	0.0227	40	c.41- others(57): Show c.41-37196_41-37195insTATATATATATATATATATATATATATA TATATATATACA	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM114_chr16_8564500_8595511	8564690	T T	TGAGTGAA others(33): Show TGAGTGAATGAGTGAGTAAATGAGTGAGTGAGGGAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01255.hp2 others(9): Show HG00323.hp2 HG00642.hp1 HG01255.hp2 HG01361.hp2 HG02280.hp2 HG02451.hp1 HG02602.hp1 HG03130.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0091 a0001c0001t0002g0159 a0001c0001t0003g0045 others(7): Show a0001c0001t0001g0091 a0001c0001t0002g0159 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0247 a0001c0001t0003g0248	12	416	0.0289	40	c.50 others(51): Show c.5082_*5083insCCTCCCTCCCTCACTCACTCATTTACTCACTCAT TCACTC	TMEM114	ENSG00000232258.7	transcript	ENST00000620492.5	protein_coding		4809		chr16	TogoVar
TMEM116_chr12_111926298_112018165	111940498	C C	CACATATA others(33): Show CACATATATATACACACATATATATGTGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	342	0.0029	40	c.316 others(57): Show c.316-2289_316-2288insATATATATATATACACATATATATGTGT GTATATATATGT	TMEM116	ENSG00000198270.13	transcript	ENST00000552374.7	protein_coding	5/10			chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747311	A A	ACTGGGGT others(33): Show ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0061 a0003c0003t0061	a0003c0003t0061g0071 a0003c0003t0061g0071	1	314	0.0032	40	c.189 others(57): Show c.189-1002_189-1001insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747320	G G	GAAGGTGG others(33): Show GAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01891.hp2 HG02630.hp2 HG01123.hp1 HG01891.hp2 HG02630.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0090 a0003c0003t0010 a0001c0001t0002 a0001c0001t0090 a0003c0003t0010	a0001c0001t0002g0057 a0001c0001t0090g0294 a0003c0003t0010g0072 a0001c0001t0002g0057 a0001c0001t0090g0294 a0003c0003t0010g0072	3	314	0.0096	40	c.189 others(57): Show c.189-1002_189-1001insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAAAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747551	G G	GCTGGGGT others(33): Show GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18990.hp2 HG02129.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0105 a0002c0002t0004 a0002c0002t0105	a0002c0002t0004g0103 a0002c0002t0105g0097 a0002c0002t0004g0103 a0002c0002t0105g0097	2	314	0.0064	40	c.189 others(55): Show c.189-756_189-755insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747572	C C	CTGGGGTA others(33): Show CTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG00673.hp1 others(10): Show HG00438.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG01258.hp2 HG02165.hp2 HG04184.hp2 NA18964.hp2 NA19005.hp1 NA19010.hp1 NA19088.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0010 a0002c0002t0039	a0001c0001t0001g0118 a0002c0002t0001g0193 a0002c0002t0001g0213 others(10): Show a0001c0001t0001g0118 a0002c0002t0001g0193 a0002c0002t0001g0213 a0002c0002t0001g0238 a0002c0002t0001g0243 a0002c0002t0001g0249 a0002c0002t0001g0305 a0002c0002t0002g0226 a0002c0002t0004g0242 a0002c0002t0004g0246 a0002c0002t0007g0235 a0002c0002t0010g0161 a0002c0002t0039g0111	13	314	0.0414	40	c.189 others(55): Show c.189-754_189-753insTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747753	G G	GCTGGGGT others(33): Show GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0187 a0002c0002t0004g0187	1	314	0.0032	40	c.189 others(55): Show c.189-554_189-553insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAG	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(33): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02080.hp2 HG04184.hp1 others(1): Show HG00642.hp2 HG02080.hp2 HG04184.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0007 a0002c0002t0010 a0002c0002t0001 a0002c0002t0007 a0002c0002t0010	a0002c0002t0001g0213 a0002c0002t0007g0178 a0002c0002t0007g0235 others(1): Show a0002c0002t0001g0213 a0002c0002t0007g0178 a0002c0002t0007g0235 a0002c0002t0010g0188	4	314	0.0127	40	c.189 others(55): Show c.189-460_189-459insCGGGAGGCTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGG	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(33): Show GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02293.hp2 HG02622.hp1 others(4): Show HG00323.hp2 HG02293.hp2 HG02622.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp2 NA18948.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0001c0001t0103 a0002c0002t0012 others(2): Show a0001c0001t0011 a0001c0001t0103 a0002c0002t0012 a0002c0002t0038 a0002c0002t0094	a0001c0001t0011g0206 a0001c0001t0103g0296 a0002c0002t0012g0163 others(4): Show a0001c0001t0011g0206 a0001c0001t0103g0296 a0002c0002t0012g0163 a0002c0002t0012g0174 a0002c0002t0012g0175 a0002c0002t0038g0216 a0002c0002t0094g0157	7	314	0.0223	40	c.189 others(55): Show c.189-460_189-459insCGGGAGTCTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747875	A A	ACTGGGGT others(33): Show ACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18999.hp2 HG02129.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0105 a0002c0002t0007 a0002c0002t0105	a0002c0002t0007g0200 a0002c0002t0105g0097 a0002c0002t0007g0200 a0002c0002t0105g0097	2	314	0.0064	40	c.189 others(55): Show c.189-438_189-437insCGGGAGTCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747875	A A	ACTGGGGT others(33): Show ACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0098 a0002c0002t0098	a0002c0002t0098g0190 a0002c0002t0098g0190	1	314	0.0032	40	c.189 others(55): Show c.189-438_189-437insCGGGAGTCTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747917	A A	ACTGGGGT others(33): Show ACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01433.hp1 HG01123.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0233 a0001c0001t0011g0110 a0001c0001t0004g0233 a0001c0001t0011g0110	2	314	0.0064	40	c.189 others(55): Show c.189-396_189-395insCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747937	G G	GCTGGGGT others(33): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0193	1	314	0.0032	40	c.189 others(55): Show c.189-376_189-375insCGGGAGGCTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747958	C C	CTGGGGTA others(33): Show CTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03491.hp1 NA18994.hp2 others(1): Show HG00621.hp1 HG03491.hp1 NA18994.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0027 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0027 a0001c0001t0052	a0001c0001t0001g0272 a0001c0001t0005g0025 a0001c0001t0027g0066 others(1): Show a0001c0001t0001g0272 a0001c0001t0005g0025 a0001c0001t0027g0066 a0001c0001t0052g0054	4	314	0.0127	40	c.189 others(55): Show c.189-368_189-367insTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121748000	C C	CTGGGGTA others(33): Show CTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	314	0.0032	40	c.189 others(55): Show c.189-326_189-325insTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM121_chr14_105521583_105535198	105521599	T T	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19240.hp1 NA19030.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0001 a0002c0002t0002g0010 a0001c0001t0001g0001 a0002c0002t0002g0010	2	352	0.0057	40	c.-51 others(51): Show c.-5168_-5167insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTC	TMEM121	ENSG00000184986.12	transcript	ENST00000392519.7	protein_coding		4983		chr14	TogoVar
TMEM130_chr7_98841490_98875014	98842386	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01515.hp1 HG00733.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0002t0001g0052 a0001c0001t0001g0003 a0001c0002t0001g0052	2	380	0.0053	40	c.56 others(51): Show c.5669_*5670insATATATATATATATATATATATATATATATATAT ATATAT	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding		4103		chr7	TogoVar
TMEM130_chr7_98841490_98875014	98842402	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0288 a0001c0001t0004g0288	1	380	0.0026	40	c.56 others(51): Show c.5653_*5654insGTATATATATATATATATATATATATATATATAT ATATAT	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding		4087		chr7	TogoVar
TMEM130_chr7_98841490_98875014	98850273	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0296 a0001c0002t0001g0296	1	380	0.0026	40	c.100 others(59): Show c.1006+1147_1006+1148insAAAAAAAAAAAAAATATATATATATA TATATATATATATA	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding	6/7			chr7	TogoVar
TMEM130_chr7_98841490_98875014	98850273	A A	ATATATAT others(33): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0190 a0001c0001t0012g0190	1	380	0.0026	40	c.100 others(59): Show c.1006+1147_1006+1148insAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATA	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding	6/7			chr7	TogoVar
TMEM132B_chr12_125181386_125667369	125474056	T T	TTTTCCTT others(33): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0048 a0001c0012t0048	a0001c0012t0048g0068 a0001c0012t0048g0068	1	128	0.0078	40	c.110 others(61): Show c.1107-45380_1107-45341dupTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125575057	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02015.hp1 HG00423.hp2 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0019 a0001c0003t0054 a0001c0002t0019 a0001c0003t0054	a0001c0002t0019g0102 a0001c0003t0054g0120 a0001c0002t0019g0102 a0001c0003t0054g0120	2	128	0.0156	40	c.129 others(59): Show c.1294-8768_1294-8767insATATATATATATATATATATATATAT ATATATATATATAT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128294991	A A	ATAGATAG others(33): Show ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02886.hp2 HG03041.hp1 others(2): Show HG02027.hp1 HG02886.hp2 HG03041.hp1 NA18959.hp1 NA18959.hp2	a0006 a0008 a0012 others(1): Show a0006 a0008 a0012 a0022	a0006c0024 a0008c0002 a0012c0055 others(1): Show a0006c0024 a0008c0002 a0012c0055 a0022c0041	a0006c0024t0002 a0008c0002t0001 a0012c0055t0001 others(1): Show a0006c0024t0002 a0008c0002t0001 a0012c0055t0001 a0022c0041t0001	a0006c0024t0002g0141 a0008c0002t0001g0025 a0008c0002t0001g0104 others(2): Show a0006c0024t0002g0141 a0008c0002t0001g0025 a0008c0002t0001g0104 a0012c0055t0001g0009 a0022c0041t0001g0129	5	170	0.0294	40	c.85+ others(57): Show c.85+27515_85+27516insATAGATAGATAGATAGATAGATAGATAG GTAGATAGATAG	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(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp1 HG03453.hp2 HG02109.hp2 HG02809.hp1 HG03453.hp2	a0006 a0007 a0030 a0006 a0007 a0030	a0006c0053 a0007c0080 a0030c0076 a0006c0053 a0007c0080 a0030c0076	a0006c0053t0016 a0007c0080t0002 a0030c0076t0002 a0006c0053t0016 a0007c0080t0002 a0030c0076t0002	a0006c0053t0016g0080 a0007c0080t0002g0155 a0030c0076t0002g0020 a0006c0053t0016g0080 a0007c0080t0002g0155 a0030c0076t0002g0020	3	170	0.0177	40	c.85+ others(57): Show c.85+71290_85+71291insATATATATATATATATATATATATATAT ATATATATATAT	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129227319	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18906.hp2 HG02809.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0067 a0001c0002t0001g0052 a0001c0001t0006g0067 a0001c0002t0001g0052	2	94	0.0213	40	c.130 others(61): Show c.1300-17657_1300-17656insCATATATATATATATATATATATA TATATATATATATATA	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129320963	A A	AATCTATC others(33): Show AATCTATCTATCTATCTACCTATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02818.hp1 HG01106.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0013 a0001c0001t0003g0063 a0001c0001t0001g0013 a0001c0001t0003g0063	2	94	0.0213	40	c.129 others(61): Show c.1299+16670_1299+16671insAGATAGATAGATAGATAGATAGGT AGATAGATAGATAGAT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129320973	T T	TCTATCTA others(33): Show TCTATCTACCTATCTATCTATCTATCTATCTATCTATCTAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02280.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0025 a0001c0001t0003 a0001c0001t0025	a0001c0001t0003g0065 a0001c0001t0025g0091 a0001c0001t0003g0065 a0001c0001t0025g0091	2	94	0.0213	40	c.129 others(61): Show c.1299+16660_1299+16661insGTAGATAGATAGATAGATAGATAG ATAGATAGGTAGATAG	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129356931	A A	AGAGGGGA others(33): Show AGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0025 a0002c0003t0001g0025	1	94	0.0106	40	c.111 others(61): Show c.1116-19115_1116-19114insCCCTCCCCTCCCCTCCCCTCCCCT CTCCTCCCCTCCCCTC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	3/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129538900	G G	GGACCCCT others(33): Show GGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01891.hp2 HG02145.hp2 others(15): Show HG01106.hp1 HG01891.hp2 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0002t0001 a0001c0004t0006 a0001c0004t0008 a0002c0003t0009	a0001c0001t0002g0033 a0001c0001t0003g0032 a0001c0001t0003g0050 others(15): Show a0001c0001t0002g0033 a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0006g0007 a0001c0001t0007g0014 a0001c0001t0007g0027 a0001c0001t0008g0092 a0001c0001t0010g0048 a0001c0001t0020g0073 a0001c0001t0021g0044 a0001c0001t0025g0091 a0001c0002t0001g0024 a0001c0002t0001g0052 a0001c0004t0006g0049 a0001c0004t0008g0089 a0002c0003t0009g0017	18	94	0.1915	40	c.969 others(57): Show c.969-7735_969-7696dupACTAGTAGCCAACGCTCCTTCTGACCTA TCGCCAGGGGTC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129538900	G G	GGACCTCT others(33): Show GGACCTCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03579.hp2 HG03139.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0014 a0002c0003 a0001c0014 a0002c0003	a0001c0014t0001 a0002c0003t0001 a0001c0014t0001 a0002c0003t0001	a0001c0014t0001g0062 a0002c0003t0001g0025 a0001c0014t0001g0062 a0002c0003t0001g0025	2	94	0.0213	40	c.969 others(57): Show c.969-7696_969-7695insACTAGTAGCCAACGCTCCTTCTGACCTA TCGCCAGAGGTC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129538951	G G	GATAGGTC others(33): Show GATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0022 a0002c0003t0009g0022	1	94	0.0106	40	c.969 others(57): Show c.969-7747_969-7746insTGCCAGGGGTCACTAGTAGCCAACGCTC CTTCTGACCTAT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129576477	C C	CATATGTG others(33): Show CATATGTGTACATATATCTGTTTACATAAATATATACACAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0061 a0002c0003t0001g0061	1	94	0.0106	40	c.969 others(59): Show c.969-45312_969-45273dupATGTGTATATATTTATGTAAACAGAT ATATGTACACATAT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129813611	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0048 a0001c0001t0010g0048	1	94	0.0106	40	c.79+ others(57): Show c.79+89649_79+89650insATATATATATATATATATATATATATAT ATATATATATAT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM140_chr7_135143072_135171215	135168302	G G	GCCCCCCC others(33): Show GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	1	388	0.0026	40	c.33 others(51): Show c.3303_*3304insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCC	TMEM140	ENSG00000146859.6	transcript	ENST00000275767.3	protein_coding		2088		chr7	TogoVar
TMEM144_chr4_158205486_158260416	158256896	C C	CTATAGTA others(33): Show CTATAGTATTATATATATTATATATAGTATTATATATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02559.hp2 HG02630.hp2 others(4): Show HG02486.hp2 HG02559.hp2 HG02630.hp2 HG02818.hp1 HG02965.hp1 HG03195.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0033 a0001c0001t0006 a0001c0001t0033	a0001c0001t0006g0002 a0001c0001t0006g0035 a0001c0001t0006g0097 others(2): Show a0001c0001t0006g0002 a0001c0001t0006g0035 a0001c0001t0006g0097 a0001c0001t0006g0228 a0001c0001t0033g0002	7	274	0.0256	40	c.33 others(51): Show c.3369_*3370insTATAGTATTATATATATTATATATAGTATTATAT ATTATA	TMEM144	ENSG00000164124.11	transcript	ENST00000296529.11	protein_coding		1481		chr4	TogoVar
TMEM14A_chr6_52666113_52691588	52680704	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03225.hp2 HG00609.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0286 a0001c0001t0001g0196 a0001c0001t0001g0286	2	426	0.0047	40	c.71- others(55): Show c.71-1108_71-1107insTATATATATATATATATATATATATATATA TATACACACA	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(33): Show CCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18989.hp1 HG01168.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0113 a0001c0001t0017g0179 a0001c0001t0003g0113 a0001c0001t0017g0179	2	198	0.0101	40	c.390 others(59): Show c.390+13254_390+13255insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	TMEM164	ENSG00000157600.12	transcript	ENST00000372068.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
TMEM164_chrX_109998114_110182788	110180542	G G	GCCCACTA others(33): Show GCCCACTACCCCCCCCCCATACCCCCCACCCCCCCCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0001 a0001c0001t0024g0001	1	198	0.0051	40	c.70 others(51): Show c.7091_*7092insCCCACTACCCCCCCCCCATACCCCCCACCCCCCC CCCCTC	TMEM164	ENSG00000157600.12	transcript	ENST00000372068.7	protein_coding		2755		chrX	TogoVar
TMEM171_chr5_73115575_73136809	73127384	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	450	0.0022	40	c.641 others(57): Show c.641-1005_641-1004insAAAAAAAAAAAAAAAATATATATATATA TATATATATATA	TMEM171	ENSG00000157111.13	transcript	ENST00000454765.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
TMEM171_chr5_73115575_73136809	73127384	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	450	0.0022	40	c.641 others(57): Show c.641-1005_641-1004insAAAAAAAAAAAATATATATATATATATA TATATATATATA	TMEM171	ENSG00000157111.13	transcript	ENST00000454765.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
TMEM171_chr5_73115575_73136809	73127384	A A	AAAAAAAA others(33): Show AAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	450	0.0022	40	c.641 others(57): Show c.641-1005_641-1004insAAAAAAAAAATATATATATATATATATA TATATATATATA	TMEM171	ENSG00000157111.13	transcript	ENST00000454765.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
TMEM171_chr5_73115575_73136809	73127384	A A	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	450	0.0022	40	c.641 others(57): Show c.641-1005_641-1004insAAAATATATATATATATATATATATATA TATATATATATA	TMEM171	ENSG00000157111.13	transcript	ENST00000454765.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
TMEM175_chr4_927460_963656	927703	C C	CTCCCCGC others(33): Show CTCCCCGCACTGCCCCGCACCCCTCTCCCTGCTTACCTGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0082 a0002c0003t0003g0082	1	372	0.0027	40	c.-48 others(51): Show c.-4869_-4868insTCCCCGCACTGCCCCGCACCCCTCTCCCTGCTTA CCTGCG	TMEM175	ENSG00000127419.17	transcript	ENST00000264771.9	protein_coding		4756		chr4	TogoVar

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Search Results (Total: 6641 hits)