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
TLE1_chr9_81578683_81694547	81675698	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	356	0.0028	29	c.234 others(46): Show c.234+9977_234+9978insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	TLE1	ENSG00000196781.16	transcript	ENST00000376499.8	protein_coding	4/19			chr9	TogoVar
TLK1_chr2_170985823_171165893	170986505	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	266	0.0038	29	c.72 others(40): Show c.7274_*7275insATATATATATATATATATATATATATATA	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding		4317		chr2	TogoVar
TLK1_chr2_170985823_171165893	170986507	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18962.hp1 NA18953.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0174 a0001c0001t0007g0112 a0001c0001t0001g0174 a0001c0001t0007g0112	2	266	0.0075	29	c.72 others(40): Show c.7272_*7273insATATATATATATATATATATATATATATA	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding		4315		chr2	TogoVar
TLK1_chr2_170985823_171165893	170986509	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0219 a0001c0003t0003g0219	1	266	0.0038	29	c.72 others(40): Show c.7270_*7271insATATATATATATATATATATATATATATA	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding		4313		chr2	TogoVar
TLK2_chr17_62473825_62620481	62540400	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0051 a0001c0002t0002g0051	1	292	0.0034	29	c.531 others(46): Show c.531+4086_531+4087insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	TLK2	ENSG00000146872.19	transcript	ENST00000346027.10	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
TLK2_chr17_62473825_62620481	62541768	G G	GATTGCAC others(22): Show GATTGCACCACAGTAGCTGCAGCTAGAGAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0135 a0001c0002t0002g0135	1	292	0.0034	29	c.531 others(46): Show c.531+5431_531+5432insATTGCACCACAGTAGCTGCAGCTAGAGA T	TLK2	ENSG00000146872.19	transcript	ENST00000346027.10	protein_coding	7/21			chr17	TogoVar
TLK2_chr17_62473825_62620481	62587952	A A	ATGTATAT others(22): Show ATGTATATGTATAAAATATACGTATACATC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01433.hp2 HG02083.hp1 others(6): Show HG01167.hp2 HG01433.hp2 HG02083.hp1 HG02723.hp2 HG02965.hp1 NA18963.hp2 NA18990.hp2 NA19072.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0200 others(6): Show a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0001g0237 a0001c0001t0003g0175 a0001c0002t0002g0097 a0001c0002t0003g0069	9	292	0.0308	29	c.146 others(48): Show c.1460+1902_1460+1930dupGTATATGTATAAAATATACGTATACA TCT	TLK2	ENSG00000146872.19	transcript	ENST00000346027.10	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
TLL1_chr4_165868237_166109457	165923421	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	250	0.0040	29	c.169 others(48): Show c.169+49373_169+49374insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TLL2_chr10_96359608_96518926	96476240	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19090.hp2 NA18971.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0139 a0001c0001t0031g0046 a0001c0001t0001g0139 a0001c0001t0031g0046	2	256	0.0078	29	c.286 others(46): Show c.286+4108_286+4109insAAAAAAATATATATATATATATATATAT A	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96476240	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA19090.hp1 HG01261.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0004	a0001c0001t0002g0183 a0001c0002t0004g0184 a0001c0001t0002g0183 a0001c0002t0004g0184	2	256	0.0078	29	c.286 others(46): Show c.286+4108_286+4109insAAAAAAAAAAATATATATATATATATAT A	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96476240	A A	ATATATAT others(22): Show ATATATATATATATATATTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02523.hp2 NA18945.hp2 others(5): Show HG02015.hp1 HG02523.hp2 NA18945.hp2 NA18949.hp1 NA18971.hp1 NA18983.hp2 NA18990.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0005t0002	a0001c0001t0001g0035 a0001c0001t0002g0027 a0001c0001t0002g0036 others(5): Show a0001c0001t0001g0035 a0001c0001t0002g0027 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0006g0121 a0001c0005t0002g0114	8	256	0.0313	29	c.286 others(46): Show c.286+4108_286+4109insAAAAAAAAAAGAATATATATATATATAT A	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96476240	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19063.hp2 HG04184.hp1 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0172 a0001c0002t0004g0182 a0001c0002t0004g0172 a0001c0002t0004g0182	2	256	0.0078	29	c.286 others(46): Show c.286+4108_286+4109insAAAAAAAAAAAAATATATATATATATAT A	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96476240	A A	ATATATAT others(22): Show ATATATATATATATATTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02976.hp2 HG02615.hp1 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0004 a0001c0007 a0002c0004	a0001c0007t0005 a0002c0004t0003 a0001c0007t0005 a0002c0004t0003	a0001c0007t0005g0239 a0002c0004t0003g0235 a0001c0007t0005g0239 a0002c0004t0003g0235	2	256	0.0078	29	c.286 others(46): Show c.286+4108_286+4109insAAAAAAAAAAAAGAATATATATATATAT A	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96476240	A A	ATATATAT others(22): Show ATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0159 a0001c0002t0004g0159	1	256	0.0039	29	c.286 others(46): Show c.286+4108_286+4109insAAAAAAAAAAAAAAAAAAATATATATAT A	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TM2D1_chr1_61676046_61730141	61706834	A A	AAGAAGAA others(22): Show AAGAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	388	0.0026	29	c.347 others(46): Show c.347+2494_347+2495insCTTTCTTTCTTTCTTTCTTTCTTTCTTC T	TM2D1	ENSG00000162604.13	transcript	ENST00000606498.5	protein_coding	3/6			chr1	TogoVar
TM7SF3_chr12_26966579_27019384	27015767	A A	ATCCATTT others(22): Show ATCCATTTATTATGGATTATTATTAAGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG00738.hp2 others(27): Show HG00639.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01433.hp1 HG01928.hp2 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02135.hp2 HG02300.hp2 HG02698.hp2 HG03017.hp2 HG04228.hp1 NA18956.hp2 NA18966.hp2 NA18968.hp1 NA18989.hp1 NA18992.hp1 NA18999.hp1 NA19060.hp2 NA19067.hp2 NA19078.hp1 NA19082.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0035 a0002c0002t0004 a0002c0002t0005 a0002c0002t0012 a0002c0002t0022 a0002c0002t0023	a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0035 others(26): Show a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0040 a0001c0001t0006g0028 a0001c0001t0008g0033 a0001c0001t0035g0032 a0002c0002t0004g0386 a0002c0002t0005g0026 a0002c0002t0005g0373 a0002c0002t0005g0374 a0002c0002t0005g0378 a0002c0002t0005g0379 a0002c0002t0005g0380 a0002c0002t0005g0382 a0002c0002t0005g0383 a0002c0002t0005g0385 a0002c0002t0005g0389 a0002c0002t0012g0387 a0002c0002t0012g0388 a0002c0002t0022g0384 a0002c0002t0023g0381	30	430	0.0698	29	c.-16 others(40): Show c.-1600_-1599insATTCTTAATAATAATCCATAATAAATGGA	TM7SF3	ENSG00000064115.11	transcript	ENST00000343028.9	protein_coding		1384		chr12	TogoVar
TM9SF4_chr20_32104714_32172256	32123170	A A	AGGGGGAG others(22): Show AGGGGGAGGGGGGGAGGGGGAGGGGGGAGG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	298	0.0034	29	c.16- others(44): Show c.16-9822_16-9821insGGGGGAGGGGGGGAGGGGGGGAGGGGGAG	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32123866	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0290 a0001c0001t0003g0290	1	298	0.0034	29	c.16- others(44): Show c.16-9146_16-9145insATATATATATATATATATATATTTTTTTT	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32123866	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	298	0.0034	29	c.16- others(44): Show c.16-9146_16-9145insATATATATATATATATATTTTTTTTTTTT	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMBIM4_chr12_66130846_66174996	66155359	A A	AGAGAGAG others(22): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	352	0.0028	29	c.98- others(44): Show c.98-1912_98-1911insCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TMBIM4	ENSG00000155957.19	transcript	ENST00000358230.8	protein_coding	1/6			chr12	TogoVar
TMC2_chr20_2531573_2648580	2588691	T T	TGTGTGTG others(22): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0273 a0002c0008t0003g0273	1	344	0.0029	29	c.835 others(46): Show c.835-3619_835-3618insGTGTGTGTGTGTGTGTGTGTGTGTGTGT G	TMC2	ENSG00000149488.14	transcript	ENST00000358864.2	protein_coding	7/19			chr20	TogoVar
TMC4_chr19_54155108_54178160	54167217	T T	TTGCACCA others(22): Show TTGCACCACCGCACGCTAGCCGGGTGACAG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0002 a0010c0016t0002	a0010c0016t0002g0262 a0010c0016t0002g0262	1	407	0.0025	29	c.797 others(44): Show c.797+953_797+954insCTGTCACCCGGCTAGCGTGCGGTGGTGCA	TMC4	ENSG00000167608.12	transcript	ENST00000619895.5	protein_coding	5/14			chr19	TogoVar
TMC5_chr16_19412883_19504113	19434395	A A	ATATATAA others(22): Show ATATATAATATAGATCTATATATAATATAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG04115.hp1 HG02738.hp2 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0207 a0002c0002t0001g0330 a0002c0002t0001g0207 a0002c0002t0001g0330	2	336	0.0060	29	c.-80 others(46): Show c.-80+3755_-80+3756insTATATAATATAGATCTATATATAATATA G	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	2/21			chr16	TogoVar
TMCC3_chr12_94562122_94655557	94592661	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18989.hp2 HG03710.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0044 a0001c0001t0002 a0001c0004t0044	a0001c0001t0002g0224 a0001c0004t0044g0112 a0001c0001t0002g0224 a0001c0004t0044g0112	2	378	0.0053	29	c.79- others(46): Show c.79-10124_79-10123insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCC3_chr12_94562122_94655557	94597120	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0029 a0001c0004t0010g0029	1	378	0.0027	29	c.79- others(46): Show c.79-14583_79-14582insATATATATATATATATTTTTTTTTTTTT T	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCC3_chr12_94562122_94655557	94654846	A A	ACAGGCAT others(22): Show ACAGGCATCTGGTTGGCTTTGCTTGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0204 a0001c0004t0009g0204	1	378	0.0027	29	c.-44 others(40): Show c.-4417_-4416insGTCCCCAAGCAAAGCCAACCAGATGCCTG	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding		4290		chr12	TogoVar
TMCO4_chr1_19677240_19804916	19802948	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0078 a0001c0003t0001g0078	1	312	0.0032	29	c.-32 others(40): Show c.-3274_-3273insTATATATATATATATATATATATATATAT	TMCO4	ENSG00000162542.14	transcript	ENST00000294543.11	protein_coding		3033		chr1	TogoVar
TMEM116_chr12_111926298_112018165	111929557	G G	GAAGGAAG others(22): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 NA20752.hp2 HG02132.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0245 a0002c0002t0001g0292 a0002c0002t0001g0245 a0002c0002t0001g0292	2	342	0.0059	29	c.20 others(40): Show c.2063_*2064insTCTTTCCTTCCTTCCTTCCTTCCTTCCTT	TMEM116	ENSG00000198270.13	transcript	ENST00000552374.7	protein_coding		1740		chr12	TogoVar
TMEM116_chr12_111926298_112018165	111929557	G G	GAAGGAAG others(22): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0252 a0002c0002t0001g0252	1	342	0.0029	29	c.20 others(40): Show c.2063_*2064insTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	TMEM116	ENSG00000198270.13	transcript	ENST00000552374.7	protein_coding		1740		chr12	TogoVar
TMEM117_chr12_43831081_44394758	43938229	C C	CTATATTA others(22): Show CTATATTATATATTATTATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03130.hp2 HG03540.hp1 HG02818.hp1 HG03130.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0002g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0002g0105	3	110	0.0273	29	c.278 others(46): Show c.278-5967_278-5939dupATTATATATTATATATTATATTATATAT T	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM117_chr12_43831081_44394758	43969356	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03098.hp2 HG03486.hp2 HG01168.hp2 HG03098.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0099 a0001c0001t0003g0016 a0001c0001t0003g0103 a0001c0001t0001g0099 a0001c0001t0003g0016 a0001c0001t0003g0103	3	110	0.0273	29	c.410 others(48): Show c.410+25031_410+25032insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM117_chr12_43831081_44394758	44086932	T T	TATAATTA others(22): Show TATAATTATAAATTATATAATATATAATTA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02818.hp1 HG03225.hp1 others(1): Show HG02723.hp1 HG02818.hp1 HG03225.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0106 a0001c0001t0002g0083 a0001c0001t0002g0084 others(1): Show a0001c0001t0001g0106 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0105	4	110	0.0364	29	c.411 others(48): Show c.411-56548_411-56520dupATAATATATAATTAATAATTATAAAT TAT	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM119_chr12_108584851_108603084	108601344	C C	CTGGGTTT others(22): Show CTGGGTTTGCAGTGCTTGTGGGGAAAATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0011 a0002c0001t0001g0011	1	444	0.0023	29	c.-33 others(40): Show c.-3390_-3389insTCATTTTCCCCACAAGCACTGCAAACCCA	TMEM119	ENSG00000183160.9	transcript	ENST00000392806.4	protein_coding		3261		chr12	TogoVar
TMEM120A_chr7_75981831_75999595	75988623	C C	CGGGGTGG others(22): Show CGGGGTGGGGGGTGGAGGGGAAGGCCAGGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp2 HG01884.hp2 others(17): Show HG00639.hp2 HG01192.hp2 HG01884.hp2 HG01891.hp2 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03041.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0023 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0168 a0001c0001t0001g0188	20	368	0.0544	29	c.378 others(44): Show c.378-108_378-107insACCTGGCCTTCCCCTCCACCCCCCACCCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75989110	A A	AGGTTGAG others(22): Show AGGTTGAGGGGGGGAGGGGTGGAGGTTGAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	368	0.0027	29	c.377 others(42): Show c.377+54_377+55insCTCAACCTCCACCCCTCCCCCCCTCAACC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM130_chr7_98841490_98875014	98850273	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	380	0.0026	29	c.100 others(48): Show c.1006+1147_1006+1148insAAAAAAAAAAAAATATATATATATAT ATA	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding	6/7			chr7	TogoVar
TMEM130_chr7_98841490_98875014	98850273	A A	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0233 a0002c0005t0001g0233	1	380	0.0026	29	c.100 others(48): Show c.1006+1147_1006+1148insAAAAAAAAAAAAAAATATATATATAT ATA	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding	6/7			chr7	TogoVar
TMEM130_chr7_98841490_98875014	98850273	A A	ATATATAT others(22): Show ATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18959.hp2 NA18978.hp2 others(1): Show HG00140.hp1 NA18959.hp2 NA18978.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0199 others(1): Show a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0199 a0001c0002t0001g0062	4	380	0.0105	29	c.100 others(48): Show c.1006+1147_1006+1148insAAAAAAAAAAAAAAAAATATATATAT ATA	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding	6/7			chr7	TogoVar
TMEM130_chr7_98841490_98875014	98850273	A A	ATATATAT others(22): Show ATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01516.hp2 HG03239.hp1 others(1): Show HG00597.hp1 HG01516.hp2 HG03239.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0197 a0001c0001t0001g0222 others(1): Show a0001c0001t0001g0152 a0001c0001t0001g0197 a0001c0001t0001g0222 a0001c0001t0001g0278	4	380	0.0105	29	c.100 others(48): Show c.1006+1147_1006+1148insAAAAAAAAAAAAAAAAAAATATATAT ATA	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding	6/7			chr7	TogoVar
TMEM130_chr7_98841490_98875014	98850273	A A	ATATATAT others(22): Show ATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03834.hp2 NA18990.hp2 others(1): Show HG00738.hp1 HG03834.hp2 NA18990.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0098 a0001c0001t0001g0220 a0001c0001t0001g0236 others(1): Show a0001c0001t0001g0098 a0001c0001t0001g0220 a0001c0001t0001g0236 a0001c0002t0001g0069	4	380	0.0105	29	c.100 others(48): Show c.1006+1147_1006+1148insAAAAAAAAAAAAAAAAAAAAATATAT ATA	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding	6/7			chr7	TogoVar
TMEM130_chr7_98841490_98875014	98850273	A A	ATATATAT others(22): Show ATATATATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18994.hp1 NA19065.hp1 HG01123.hp1 NA18994.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0108 a0001c0001t0001g0255 a0001c0001t0001g0058 a0001c0001t0001g0108 a0001c0001t0001g0255	3	380	0.0079	29	c.100 others(48): Show c.1006+1147_1006+1148insAAAAAAAAAAAAAAAAAAAAAAATAT ATA	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding	6/7			chr7	TogoVar
TMEM132C_chr12_128262170_128712911	128504968	T T	TTTACTTA others(22): Show TTTACTTACTACTTTACGTAGTAAGTAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02056.hp2 HG02683.hp1 others(5): Show HG00140.hp1 HG02056.hp2 HG02683.hp1 NA18941.hp2 NA18959.hp1 NA19011.hp2 NA20129.hp2 NA20905.hp1	a0001 a0004 a0007 others(5): Show a0001 a0004 a0007 a0009 a0012 a0022 a0023 a0028	a0001c0001 a0004c0007 a0007c0011 others(5): Show a0001c0001 a0004c0007 a0007c0011 a0009c0003 a0012c0023 a0022c0041 a0023c0039 a0028c0074	a0001c0001t0001 a0004c0007t0017 a0007c0011t0005 others(5): Show a0001c0001t0001 a0004c0007t0017 a0007c0011t0005 a0009c0003t0006 a0012c0023t0001 a0022c0041t0001 a0023c0039t0001 a0028c0074t0006	a0001c0001t0001g0122 a0004c0007t0017g0042 a0007c0011t0005g0111 others(5): Show a0001c0001t0001g0122 a0004c0007t0017g0042 a0007c0011t0005g0111 a0009c0003t0006g0024 a0012c0023t0001g0170 a0022c0041t0001g0129 a0023c0039t0001g0169 a0028c0074t0006g0038	8	170	0.0471	29	c.975 others(48): Show c.975-38977_975-38949dupTTTACGTAGTAAGTAAGATTACTTAC TAC	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM143_chr19_48327356_48368940	48352261	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp2 NA19030.hp2 HG01884.hp1 HG02630.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0071 a0001c0002t0005g0068 a0001c0002t0005g0069 a0001c0002t0001g0071 a0001c0002t0005g0068 a0001c0002t0005g0069	3	350	0.0086	29	c.370 others(46): Show c.370-6908_370-6907insGTTTTTTTTTTTTTTTTTTTTTTTTTTT T	TMEM143	ENSG00000161558.11	transcript	ENST00000293261.8	protein_coding	3/7			chr19	TogoVar
TMEM150C_chr4_82478176_82566988	82562889	C C	CTTTCTTT others(22): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0215 a0001c0001t0003g0215	1	256	0.0039	29	c.-99 others(38): Show c.-995_-994insAAAAAAAAAAAAAAAAAAAAAAAAAGAAA	TMEM150C	ENSG00000249242.8	transcript	ENST00000449862.7	protein_coding		902		chr4	TogoVar
TMEM165_chr4_55390957_55431175	55420106	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	382	0.0026	29	c.792 others(46): Show c.792+2122_792+2123insAAAAAAATATATATATATATATATATAT A	TMEM165	ENSG00000134851.13	transcript	ENST00000381334.10	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
TMEM171_chr5_73115575_73136809	73127384	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	450	0.0022	29	c.641 others(46): Show c.641-1005_641-1004insAAAAAAAAAAAAATATATATATATATAT A	TMEM171	ENSG00000157111.13	transcript	ENST00000454765.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
TMEM171_chr5_73115575_73136809	73127384	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	450	0.0022	29	c.641 others(46): Show c.641-1005_641-1004insAAAAATATATATATATATATATATATAT A	TMEM171	ENSG00000157111.13	transcript	ENST00000454765.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
TMEM171_chr5_73115575_73136809	73127384	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	450	0.0022	29	c.641 others(46): Show c.641-1005_641-1004insAAATATATATATATATATATATATATAT A	TMEM171	ENSG00000157111.13	transcript	ENST00000454765.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
TMEM171_chr5_73115575_73136809	73127384	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03486.hp1 HG02886.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0247 a0001c0001t0001g0205 a0001c0001t0001g0247	2	450	0.0044	29	c.641 others(46): Show c.641-1005_641-1004insATATATATATATATATATATATATATAT A	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(22): Show ATATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	334	0.0030	29	c.41 others(40): Show c.4181_*4182insTATATATATATATATATATATATATTTTT	TMEM181	ENSG00000146433.10	transcript	ENST00000684151.1	protein_coding		641		chr6	TogoVar

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