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
TLX1_chr10_101126300_101142789	101127879	G G	GTTTATTT others(18): Show GTTTATTTTATTTTATTTTATTTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02683.hp1 HG02683.hp2 others(4): Show HG01891.hp1 HG02683.hp1 HG02683.hp2 HG02976.hp1 HG03453.hp2 HG03540.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0002g0006 a0001c0001t0005g0005 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0006 a0001c0001t0005g0005 a0001c0001t0006g0006	7	468	0.0150	25	c.-36 others(36): Show c.-3663_-3662insTTTATTTTATTTTATTTTATTTTAT	TLX1	ENSG00000107807.13	transcript	ENST00000370196.11	protein_coding		3420		chr10	TogoVar
TM2D1_chr1_61676046_61730141	61691932	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	388	0.0026	25	c.513 others(42): Show c.513+2764_513+2765insATATATATATATATATTTTTTTTTT	TM2D1	ENSG00000162604.13	transcript	ENST00000606498.5	protein_coding	5/6			chr1	TogoVar
TM2D1_chr1_61676046_61730141	61691932	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	388	0.0026	25	c.513 others(42): Show c.513+2764_513+2765insATATATATATATATATATTTTTTTT	TM2D1	ENSG00000162604.13	transcript	ENST00000606498.5	protein_coding	5/6			chr1	TogoVar
TM2D1_chr1_61676046_61730141	61691932	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA19080.hp1 HG02080.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0139 a0001c0001t0001g0075 a0001c0001t0001g0139	2	388	0.0052	25	c.513 others(42): Show c.513+2764_513+2765insATATATATATATATATATATATTTT	TM2D1	ENSG00000162604.13	transcript	ENST00000606498.5	protein_coding	5/6			chr1	TogoVar
TM2D1_chr1_61676046_61730141	61691932	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	388	0.0026	25	c.513 others(42): Show c.513+2764_513+2765insATATATATATATATATATATATATT	TM2D1	ENSG00000162604.13	transcript	ENST00000606498.5	protein_coding	5/6			chr1	TogoVar
TM4SF18_chr3_149313498_149338636	149322905	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19005.hp1 HG02809.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	2	442	0.0045	25	c.411 others(40): Show c.411-470_411-469insAAAAAAAAAAAAAAAAAAAAAAAAA	TM4SF18	ENSG00000163762.7	transcript	ENST00000296059.7	protein_coding	4/5			chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196341767	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01943.hp2 NA18988.hp1 HG01106.hp2 HG01943.hp2 NA18988.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0268 a0002c0002t0001g0262 a0001c0001t0001g0006 a0001c0001t0001g0268 a0002c0002t0001g0262	3	370	0.0081	25	c.-35 others(36): Show c.-3506_-3505insAAAAAAAAAAAAAAAAAAAAAAAAA	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding		3380		chr3	TogoVar
TM9SF4_chr20_32104714_32172256	32109735	T T	TCCAAGAT others(18): Show TCCAAGATGGCGACGGCGATGGTGAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0209 a0001c0001t0011g0209	1	298	0.0034	25	c.-5_ others(32): Show c.-5_15+5dupCCAAGATGGCGACGGCGATGGTGAG	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32123176	A A	AGGGGGGG others(18): Show AGGGGGGGGAGGGGGGAGGGGGGAGG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	298	0.0034	25	c.16- others(40): Show c.16-9830_16-9829insGAGGGGGGAGGGGGGAGGGGGGGGG	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32123176	A A	AGGGGGGG others(18): Show AGGGGGGGGGAGGGGGGAGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	298	0.0034	25	c.16- others(40): Show c.16-9830_16-9829insGGAGGGGGGAGGGGGGAGGGGGGGG	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32123192	A A	AGGGGGAG others(18): Show AGGGGGAGGGGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0054 a0001c0005t0004g0054	1	298	0.0034	25	c.16- others(40): Show c.16-9810_16-9809insAGGGGGAGGGGGAGGGGGGAGGGGG	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(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	298	0.0034	25	c.16- others(40): Show c.16-9146_16-9145insATATATATATATATATATTTTTTTT	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(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19240.hp1 NA18969.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0144 a0001c0001t0003g0273 a0001c0001t0001g0144 a0001c0001t0003g0273	2	298	0.0067	25	c.16- others(40): Show c.16-9146_16-9145insATATATATATATATTTTTTTTTTTT	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32163268	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	298	0.0034	25	c.177 others(44): Show c.1779+1904_1779+1905insAAATATATATATATATATATATATA	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMBIM4_chr12_66130846_66174996	66155360	G G	GAGAGAGA others(18): Show GAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	352	0.0028	25	c.98- others(40): Show c.98-1913_98-1912insTCTCTCTCTCTCTCTCTCTCTCTCT	TMBIM4	ENSG00000155957.19	transcript	ENST00000358230.8	protein_coding	1/6			chr12	TogoVar
TMC1_chr9_72516608_72843297	72538394	C C	CTTGTATT others(18): Show CTTGTATTGTATTGTATTGTATTGTA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	182	0.0055	25	c.-42 others(46): Show c.-428+16508_-428+16532dupTGTATTGTATTGTATTGTATTGTA T	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMC5_chr16_19412883_19504113	19434395	A A	ATATATCA others(18): Show ATATATCATATATATCTATATATAAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02145.hp2 HG01081.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0012 a0001c0001t0004g0283 a0001c0001t0003g0012 a0001c0001t0004g0283	2	336	0.0060	25	c.-80 others(42): Show c.-80+3755_-80+3756insTATATCATATATATCTATATATAAT	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	2/21			chr16	TogoVar
TMC6_chr17_78102397_78133755	78123666	A A	ATGGATGG others(18): Show ATGGATGGGTGGGTGAATTGAGTGGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0022 a0022	a0022c0031 a0022c0031	a0022c0031t0004 a0022c0031t0004	a0022c0031t0004g0423 a0022c0031t0004g0423	1	444	0.0023	25	c.108 others(42): Show c.1082+298_1082+322dupCCCACTCAATTCACCCACCCATCCA	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	9/19			chr17	TogoVar
TMC7_chr16_18978934_19068942	18979795	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG01243.hp1 others(17): Show HG00423.hp1 HG00673.hp2 HG01243.hp1 HG01433.hp2 HG01975.hp1 HG02074.hp1 HG02083.hp2 HG02602.hp1 HG02622.hp2 NA18612.hp2 NA18940.hp1 NA18945.hp2 NA18975.hp2 NA18978.hp2 NA18989.hp1 NA19043.hp1 NA19079.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0009	a0001c0001 a0002c0003 a0003c0004 others(2): Show a0001c0001 a0002c0003 a0003c0004 a0008c0016 a0009c0010	a0001c0001t0001 a0001c0001t0030 a0002c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0030 a0002c0003t0001 a0003c0004t0003 a0003c0004t0006 a0008c0016t0001 a0009c0010t0001	a0001c0001t0001g0237 a0001c0001t0001g0263 a0001c0001t0001g0265 others(17): Show a0001c0001t0001g0237 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0030g0274 a0002c0003t0001g0222 a0003c0004t0003g0251 a0003c0004t0006g0253 a0003c0004t0006g0255 a0008c0016t0001g0257 a0009c0010t0001g0218	20	282	0.0709	25	c.-42 others(36): Show c.-4269_-4268insAAAATAAAATAAAATAAAATAAAAT	TMC7	ENSG00000170537.13	transcript	ENST00000304381.10	protein_coding		4138		chr16	TogoVar
TMCC1_chr3_129642792_129898711	129726868	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01891.hp1 HG03486.hp2 HG00408.hp2 HG01891.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0009 a0001c0001t0002 a0001c0002t0009	a0001c0001t0002g0140 a0001c0002t0009g0167 a0001c0002t0009g0168 a0001c0001t0002g0140 a0001c0002t0009g0167 a0001c0002t0009g0168	3	258	0.0116	25	c.577 others(44): Show c.577-55629_577-55605dupTTTTTTTTTTTTTTTTTTTTTTTTT	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCC1_chr3_129642792_129898711	129818401	T T	TAAGAAAC others(18): Show TAAGAAACTTTTAAAGAAAAGTTTTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02559.hp1 HG02109.hp2 HG02280.hp2 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0160 a0002c0003t0007g0161 a0002c0003t0007g0163 a0002c0003t0007g0160 a0002c0003t0007g0161 a0002c0003t0007g0163	3	258	0.0116	25	c.576 others(42): Show c.576+9377_576+9401dupTAAAACTTTTCTTTAAAAGTTTCTT	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCC3_chr12_94562122_94655557	94592661	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG01074.hp1 others(25): Show HG00558.hp1 HG00609.hp2 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01496.hp2 HG02129.hp1 HG02148.hp1 HG02559.hp2 HG02698.hp1 HG02897.hp2 HG03195.hp1 HG03834.hp2 HG04199.hp1 NA18950.hp1 NA18954.hp2 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18986.hp1 NA18988.hp1 NA19003.hp2 NA19060.hp2 NA19066.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0003 a0001c0003t0014 a0001c0003t0021 a0001c0004t0005 a0001c0004t0011 a0002c0007t0016	a0001c0001t0002g0093 a0001c0001t0002g0111 a0001c0001t0002g0197 others(25): Show a0001c0001t0002g0093 a0001c0001t0002g0111 a0001c0001t0002g0197 a0001c0001t0002g0214 a0001c0001t0004g0260 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0278 a0001c0001t0004g0291 a0001c0001t0004g0305 a0001c0001t0006g0122 a0001c0001t0008g0049 a0001c0001t0008g0056 a0001c0002t0001g0191 a0001c0002t0003g0271 a0001c0002t0003g0294 a0001c0003t0001g0118 a0001c0003t0001g0125 a0001c0003t0001g0156 a0001c0003t0001g0158 a0001c0003t0003g0315 a0001c0003t0003g0351 a0001c0003t0003g0352 a0001c0003t0014g0177 a0001c0003t0021g0320 a0001c0004t0005g0116 a0001c0004t0011g0373 a0002c0007t0016g0231	28	378	0.0741	25	c.79- others(42): Show c.79-10124_79-10123insTTTTTTTTTTTTTTTTTTTTTTTTT	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCC3_chr12_94562122_94655557	94655234	A A	AGAGAGTG others(18): Show AGAGAGTGCTAGGGTTTTGTCAGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0204 a0001c0004t0009g0204	1	378	0.0027	25	c.-48 others(36): Show c.-4805_-4804insCAGCTGACAAAACCCTAGCACTCTC	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding		4678		chr12	TogoVar
TMCO1_chr1_165721795_165773868	165722914	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0036 a0001c0001t0007g0036	1	374	0.0027	25	c.51 others(36): Show c.5108_*5109insTTTTTTTTTTTTTTTTTTTTTTTTT	TMCO1	ENSG00000143183.18	transcript	ENST00000367881.11	protein_coding		3880		chr1	TogoVar
TMCO4_chr1_19677240_19804916	19802948	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0010 a0001c0002t0007g0010	1	312	0.0032	25	c.-32 others(36): Show c.-3274_-3273insTATATATATATATATATATATATAT	TMCO4	ENSG00000162542.14	transcript	ENST00000294543.11	protein_coding		3033		chr1	TogoVar
TMED10_chr14_75126469_75181612	75156916	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	262	0.0038	25	c.226 others(42): Show c.226-4798_226-4774dupCTTTTCTTTTCTTTTCTTTTCTTTT	TMED10	ENSG00000170348.9	transcript	ENST00000303575.9	protein_coding	1/4			chr14	TogoVar
TMED3_chr15_79306112_79327840	79310999	C C	CGGCGGGG others(18): Show CGGCGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	444	0.0023	25	c.-25 others(34): Show c.-251_-250insGGCGGGGGGGGGGGGGGGGGGGGGG	TMED3	ENSG00000166557.14	transcript	ENST00000299705.10	protein_coding		112		chr15	TogoVar
TMED3_chr15_79306112_79327840	79310999	C C	CGGGGGGG others(18): Show CGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	444	0.0023	25	c.-25 others(34): Show c.-251_-250insGGGGGGGGGGGGGGGGGGGGGGGGG	TMED3	ENSG00000166557.14	transcript	ENST00000299705.10	protein_coding		112		chr15	TogoVar
TMEFF1_chr9_100468149_100582636	100497320	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	242	0.0041	25	c.197 others(42): Show c.197-1421_197-1420insTTTTTTTTTTTTTTTTTTTTTTTTT	TMEFF1	ENSG00000241697.5	transcript	ENST00000374879.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMEM107_chr17_8167457_8181380	8179063	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp2 HG03927.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0003 a0001c0001t0008g0008 a0001c0001t0003g0003 a0001c0001t0008g0008	2	434	0.0046	25	c.-27 others(36): Show c.-2778_-2777insATATATATATATATATATATATATA	TMEM107	ENSG00000179029.15	transcript	ENST00000437139.7	protein_coding		2684		chr17	TogoVar
TMEM108_chr3_133033391_133402775	133143921	C C	CTTTTATT others(18): Show CTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0127 a0005c0010t0002g0127	1	220	0.0046	25	c.-46 others(44): Show c.-46-85305_-46-85281dupATTTTATTTTATTTTATTTTATTTT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM116_chr12_111926298_112018165	111929557	G G	GAAGGAAG others(18): Show GAAGGAAGGAAGGAAGGAAGGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0310 a0002c0002t0001g0310	1	342	0.0029	25	c.20 others(36): Show c.2063_*2064insTCTTTCCTTCCTTCCTTCCTTCCTT	TMEM116	ENSG00000198270.13	transcript	ENST00000552374.7	protein_coding		1740		chr12	TogoVar
TMEM120A_chr7_75981831_75999595	75988764	A A	AAGAAGGC others(18): Show AAGAAGGCCGGGTAGGGGGGTGGAGG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	368	0.0027	25	c.378 others(40): Show c.378-249_378-248insCCTCCACCCCCCTACCCGGCCTTCT	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75988764	A A	AAGAAGGC others(18): Show AAGAAGGCCGGGTGGGGGGGTGGAGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19030.hp2 HG03130.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0207 a0001c0002t0004g0111 a0001c0001t0001g0207 a0001c0002t0004g0111	2	368	0.0054	25	c.378 others(40): Show c.378-249_378-248insCCTCCACCCCCCCACCCGGCCTTCT	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75988783	C C	CTGGAGGA others(18): Show CTGGAGGAGAAGGCCGGGTGGGGGGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02976.hp1 HG03195.hp1 others(2): Show HG02559.hp2 HG02976.hp1 HG03195.hp1 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0108 a0001c0001t0001g0007 a0001c0001t0001g0108	5	368	0.0136	25	c.378 others(40): Show c.378-268_378-267insCCCCCCCACCCGGCCTTCTCCTCCA	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75988872	C C	CGGGAGGG others(18): Show CGGGAGGGGGTGTGGAGGGGAAGGCG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	2	368	0.0054	25	c.377 others(40): Show c.377+292_377+293insCGCCTTCCCCTCCACACCCCCTCCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75988876	T T	TGGGGGGG others(18): Show TGGGGGGGTGGAGGGGAAGGCGGGGA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	368	0.0027	25	c.377 others(40): Show c.377+288_377+289insTCCCCGCCTTCCCCTCCACCCCCCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75988901	T T	TGGGGGGG others(18): Show TGGGGGGGTGGAGGGGAAGGCGGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03486.hp1 HG02257.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0191 a0001c0001t0001g0146 a0001c0001t0001g0191	2	368	0.0054	25	c.377 others(40): Show c.377+263_377+264insTCCCCGCCTTCCCCTCCACCCCCCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75988986	G G	GGTGGAGG others(18): Show GGTGGAGGGGAAGGCCGGGTGGGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03017.hp1 HG03834.hp2 HG02257.hp1 HG03017.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0001g0210 a0001c0001t0001g0253 a0001c0001t0001g0259	3	368	0.0082	25	c.377 others(40): Show c.377+178_377+179insACACCCACCCGGCCTTCCCCTCCAC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75989102	A A	AGGGGTGG others(18): Show AGGGGTGGAGGTTGAGGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	368	0.0027	25	c.377 others(38): Show c.377+62_377+63insCCTCCCCCCCCTCAACCTCCACCCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM123_chr11_102391332_102457765	102395301	G G	GTTTTTGT others(18): Show GTTTTTGTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0001 a0003c0003t0006g0001	1	204	0.0049	25	c.35 others(36): Show c.3565_*3566insAAAAAAAAAAAAAAAAAAACAAAAA	TMEM123	ENSG00000152558.15	transcript	ENST00000398136.7	protein_coding		1030		chr11	TogoVar
TMEM130_chr7_98841490_98875014	98850273	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	380	0.0026	25	c.100 others(44): Show c.1006+1147_1006+1148insAAAAAAAAAAAAAAATATATATATA	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding	6/7			chr7	TogoVar
TMEM130_chr7_98841490_98875014	98850273	A A	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01516.hp1 HG02129.hp2 HG00544.hp1 HG01516.hp1 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0001 a0001c0001t0010 a0001c0001t0012	a0001c0001t0001g0247 a0001c0001t0010g0140 a0001c0001t0012g0192 a0001c0001t0001g0247 a0001c0001t0010g0140 a0001c0001t0012g0192	3	380	0.0079	25	c.100 others(44): Show c.1006+1147_1006+1148insAAAAAAAAAAAAAAAAATATATATA	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding	6/7			chr7	TogoVar
TMEM130_chr7_98841490_98875014	98850273	A A	ATATATAT others(18): Show ATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01256.hp1 others(6): Show HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG04199.hp2 NA18947.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0010 a0001c0004t0003 a0001c0001t0001 a0001c0001t0010 a0001c0004t0003	a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0254 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0010g0031 a0001c0004t0003g0077	9	380	0.0237	25	c.100 others(44): Show c.1006+1147_1006+1148insAAAAAAAAAAAAAAAAAAATATATA	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding	6/7			chr7	TogoVar
TMEM130_chr7_98841490_98875014	98850273	A A	ATATATTT others(18): Show ATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	380	0.0026	25	c.100 others(44): Show c.1006+1147_1006+1148insAAAAAAAAAAAAAAAAAAAAATATA	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding	6/7			chr7	TogoVar
TMEM132B_chr12_125181386_125667369	125474056	T T	TTTTCCTT others(18): Show TTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0018 a0002c0001t0018	a0002c0001t0018g0056 a0002c0001t0018g0056	1	128	0.0078	25	c.110 others(46): Show c.1107-45365_1107-45341dupTCCTTTCCTTTCCTTTCCTTTCCT T	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125560831	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0003 a0002c0014t0003	a0002c0014t0003g0052 a0002c0014t0003g0052	1	128	0.0078	25	c.129 others(46): Show c.1294-23015_1294-22991dupAAAAAAAAAAAAAAAAAAAAAAAA A	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128609163	A A	ACTGTAAC others(18): Show ACTGTAACTCCCGCCTCCCTGCAACC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02145.hp1 HG02145.hp2 others(6): Show HG01496.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02572.hp2 HG02615.hp1 HG02723.hp2 HG02809.hp1 HG03471.hp1	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0006 a0007 a0011	a0002c0018 a0003c0010 a0003c0071 others(6): Show a0002c0018 a0003c0010 a0003c0071 a0004c0013 a0006c0021 a0006c0025 a0007c0011 a0007c0080 a0011c0014	a0002c0018t0002 a0003c0010t0003 a0003c0071t0002 others(6): Show a0002c0018t0002 a0003c0010t0003 a0003c0071t0002 a0004c0013t0002 a0006c0021t0002 a0006c0025t0005 a0007c0011t0004 a0007c0080t0002 a0011c0014t0001	a0002c0018t0002g0136 a0003c0010t0003g0067 a0003c0071t0002g0079 others(6): Show a0002c0018t0002g0136 a0003c0010t0003g0067 a0003c0071t0002g0079 a0004c0013t0002g0047 a0006c0021t0002g0165 a0006c0025t0005g0075 a0007c0011t0004g0060 a0007c0080t0002g0155 a0011c0014t0001g0127	9	170	0.0529	25	c.112 others(44): Show c.1122-6982_1122-6981insTCCCGCCTCCCTGCAACCCTGTAAC	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128609200	A A	ACCTCCCT others(18): Show ACCTCCCTGCAACACTGTAACCCCCG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00639.hp2 others(31): Show HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG01099.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02895.hp1 HG02896.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG04115.hp2 HG04204.hp2 NA18941.hp2 NA18971.hp2 NA19010.hp2 NA20905.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0014 a0015 a0028	a0001c0001 a0001c0019 a0002c0004 others(20): Show a0001c0001 a0001c0019 a0002c0004 a0002c0018 a0002c0038 a0002c0046 a0003c0009 a0003c0086 a0004c0007 a0004c0013 a0004c0026 a0005c0012 a0005c0034 a0006c0025 a0007c0081 a0008c0002 a0009c0003 a0010c0027 a0010c0069 a0012c0023 a0014c0068 a0015c0088 a0028c0074	a0001c0001t0001 a0001c0019t0001 a0002c0004t0003 others(22): Show a0001c0001t0001 a0001c0019t0001 a0002c0004t0003 a0002c0018t0002 a0002c0038t0002 a0002c0046t0002 a0003c0009t0001 a0003c0009t0004 a0003c0086t0003 a0004c0007t0002 a0004c0013t0002 a0004c0026t0002 a0005c0012t0004 a0005c0034t0002 a0006c0025t0005 a0007c0081t0004 a0008c0002t0001 a0009c0003t0001 a0009c0003t0006 a0010c0027t0001 a0010c0069t0001 a0012c0023t0001 a0014c0068t0003 a0015c0088t0006 a0028c0074t0006	a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0098 others(31): Show a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0098 a0001c0001t0001g0154 a0001c0019t0001g0029 a0002c0004t0003g0059 a0002c0018t0002g0101 a0002c0038t0002g0014 a0002c0046t0002g0095 a0003c0009t0001g0073 a0003c0009t0001g0153 a0003c0009t0004g0132 a0003c0086t0003g0161 a0004c0007t0002g0071 a0004c0013t0002g0065 a0004c0026t0002g0137 a0005c0012t0004g0124 a0005c0034t0002g0084 a0006c0025t0005g0012 a0007c0081t0004g0048 a0008c0002t0001g0026 a0008c0002t0001g0032 a0008c0002t0001g0049 a0009c0003t0001g0023 a0009c0003t0001g0110 a0009c0003t0001g0168 a0009c0003t0006g0024 a0010c0027t0001g0152 a0010c0069t0001g0021 a0012c0023t0001g0113 a0012c0023t0001g0170 a0014c0068t0003g0085 a0015c0088t0006g0116 a0028c0074t0006g0038	34	170	0.2000	25	c.112 others(44): Show c.1122-6934_1122-6910dupAACCCCCGCCTCCCTGCAACACTGT	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128609271	A A	ACCTCCCT others(18): Show ACCTCCCTGCAACACTGTAACCCCCG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG01361.hp1 others(13): Show HG00621.hp2 HG00642.hp2 HG01361.hp1 HG01496.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02723.hp2 HG03486.hp1 HG03579.hp1	a0002 a0003 a0004 others(7): Show a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012	a0002c0018 a0002c0038 a0002c0046 others(12): Show a0002c0018 a0002c0038 a0002c0046 a0003c0010 a0004c0007 a0004c0013 a0005c0012 a0005c0034 a0006c0021 a0007c0011 a0009c0003 a0010c0027 a0010c0069 a0011c0014 a0012c0023	a0002c0018t0002 a0002c0038t0002 a0002c0046t0002 others(12): Show a0002c0018t0002 a0002c0038t0002 a0002c0046t0002 a0003c0010t0003 a0004c0007t0002 a0004c0013t0002 a0005c0012t0004 a0005c0034t0002 a0006c0021t0002 a0007c0011t0004 a0009c0003t0001 a0010c0027t0001 a0010c0069t0001 a0011c0014t0001 a0012c0023t0001	a0002c0018t0002g0101 a0002c0018t0002g0136 a0002c0038t0002g0014 others(13): Show a0002c0018t0002g0101 a0002c0018t0002g0136 a0002c0038t0002g0014 a0002c0046t0002g0095 a0003c0010t0003g0067 a0004c0007t0002g0071 a0004c0013t0002g0065 a0005c0012t0004g0124 a0005c0034t0002g0084 a0006c0021t0002g0165 a0007c0011t0004g0060 a0009c0003t0001g0023 a0010c0027t0001g0152 a0010c0069t0001g0021 a0011c0014t0001g0127 a0012c0023t0001g0113	16	170	0.0941	25	c.112 others(44): Show c.1122-6863_1122-6862insACCCCCGCCTCCCTGCAACACTGTA	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar

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