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
TTC39C_chr18_24009754_24140600	24045927	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	328	0.0031	23	c.168 others(42): Show c.168-18212_168-18211insATATATATATATATATATTTTTT	TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
TTC3_chr21_37068254_37208107	37124112	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	340	0.0029	23	c.111 others(40): Show c.1110-506_1110-484dupTTTTTTTTTTTTTTTTTTTTTTT	TTC3	ENSG00000182670.14	transcript	ENST00000418766.6	protein_coding	13/45		INFO_REALIGN_3_PRIME	chr21	TogoVar
TTC5_chr14_20281227_20310951	20300156	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0219 a0001c0002t0014g0219	1	416	0.0024	23	c.396 others(38): Show c.396+450_396+451insTATATATATATATATATATATAT	TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding	3/9			chr14	TogoVar
TTC7B_chr14_90519564_90821430	90694678	T T	TTTTTATT others(16): Show TTTTTATTTTATTATAAAAATATA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0132 a0001c0003t0028g0132	1	200	0.0050	23	c.777 others(38): Show c.777+821_777+822insTATATTTTTATAATAAAATAAAA	TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	6/19			chr14	TogoVar
TTI1_chr20_37978021_38038456	38020319	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	396	0.0025	23	c.-41 others(40): Show c.-41-6463_-41-6462insATATATATATATATATATATATA	TTI1	ENSG00000101407.13	transcript	ENST00000373447.8	protein_coding	1/7			chr20	TogoVar
TTI1_chr20_37978021_38038456	38020323	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	396	0.0025	23	c.-41 others(40): Show c.-41-6467_-41-6466insATATATATATATATATATTTTTT	TTI1	ENSG00000101407.13	transcript	ENST00000373447.8	protein_coding	1/7			chr20	TogoVar
TTI1_chr20_37978021_38038456	38020323	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0326 a0001c0008t0009g0326	1	396	0.0025	23	c.-41 others(40): Show c.-41-6467_-41-6466insATATATATATATATATATATTTT	TTI1	ENSG00000101407.13	transcript	ENST00000373447.8	protein_coding	1/7			chr20	TogoVar
TTI1_chr20_37978021_38038456	38020323	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	396	0.0025	23	c.-41 others(40): Show c.-41-6467_-41-6466insATATATATATATATATATATATT	TTI1	ENSG00000101407.13	transcript	ENST00000373447.8	protein_coding	1/7			chr20	TogoVar
TTI1_chr20_37978021_38038456	38020323	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	396	0.0025	23	c.-41 others(40): Show c.-41-6467_-41-6466insATATATATATATATATATATATA	TTI1	ENSG00000101407.13	transcript	ENST00000373447.8	protein_coding	1/7			chr20	TogoVar
TTI1_chr20_37978021_38038456	38020323	A A	ATATATAT others(16): Show ATATATATATATATCTATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	396	0.0025	23	c.-41 others(40): Show c.-41-6467_-41-6466insATATATATAGATATATATATATA	TTI1	ENSG00000101407.13	transcript	ENST00000373447.8	protein_coding	1/7			chr20	TogoVar
TTK_chr6_79999649_80047527	80000135	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0148 a0001c0001t0005g0148	1	328	0.0031	23	c.-45 others(34): Show c.-4581_-4580insTATATATATATATATATATATAT	TTK	ENSG00000112742.10	transcript	ENST00000369798.7	protein_coding		4513		chr6	TogoVar
TTK_chr6_79999649_80047527	80000135	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 NA18954.hp1 HG02074.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0171 a0001c0001t0001g0002 a0001c0001t0001g0171	2	328	0.0061	23	c.-45 others(34): Show c.-4581_-4580insTATATATATATATATATATATTT	TTK	ENSG00000112742.10	transcript	ENST00000369798.7	protein_coding		4513		chr6	TogoVar
TTK_chr6_79999649_80047527	80000135	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG02055.hp2 HG02451.hp1 others(3): Show HG01168.hp1 HG02055.hp2 HG02451.hp1 HG04184.hp2 NA19064.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0127 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0127 a0001c0001t0001g0141	6	328	0.0183	23	c.-45 others(34): Show c.-4581_-4580insTATATATATATATATATATTTTT	TTK	ENSG00000112742.10	transcript	ENST00000369798.7	protein_coding		4513		chr6	TogoVar
TTLL10_chr1_1168880_1202936	1180918	C C	CCCCTGCC others(16): Show CCCCTGCCCCTGCGCCCGCCCCAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0010 a0010	a0010c0059 a0010c0059	a0010c0059t0001 a0010c0059t0001	a0010c0059t0001g0096 a0010c0059t0001g0096	1	382	0.0026	23	c.755 others(36): Show c.755+70_755+71insGCCCGCCCCAACCCTGCCCCTGC	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1195500	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02015.hp1 HG03688.hp2 others(3): Show HG00621.hp2 HG02015.hp1 HG03688.hp2 NA18961.hp1 NA18970.hp1 NA18990.hp1	a0002 a0011 a0002 a0011	a0002c0001 a0011c0014 a0002c0001 a0011c0014	a0002c0001t0002 a0002c0001t0011 a0011c0014t0002 a0002c0001t0002 a0002c0001t0011 a0011c0014t0002	a0002c0001t0002g0133 a0002c0001t0002g0179 a0002c0001t0002g0204 others(3): Show a0002c0001t0002g0133 a0002c0001t0002g0179 a0002c0001t0002g0204 a0002c0001t0002g0263 a0002c0001t0011g0200 a0011c0014t0002g0278	6	382	0.0157	23	c.140 others(42): Show c.1402-1082_1402-1081insTTTTTTTTTTTTTTTTTTTTTTT	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL11_chr9_121810674_122098308	122002944	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0046 a0004c0005t0046	a0004c0005t0046g0036 a0004c0005t0046g0036	1	174	0.0058	23	c.694 others(42): Show c.694-13175_694-13174insTTTTTTTTTTTTTTTTTTTTTTT	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	3/8			chr9	TogoVar
TTLL12_chr22_43161622_43192134	43187182	C C	CGCCCCTC others(16): Show CGCCCCTCCCCGCCCTCCTCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0357 a0001c0001t0005g0357	1	394	0.0025	23	c.-11 others(32): Show c.-114_-113insCTGGGAGGAGGGCGGGGAGGGGC	TTLL12	ENSG00000100304.13	transcript	ENST00000216129.7	protein_coding		49		chr22	TogoVar
TTLL12_chr22_43161622_43192134	43187211	C C	CCCCCCGC others(16): Show CCCCCCGCCCCGCCCTCCTCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0309 a0001c0001t0003g0309	1	394	0.0025	23	c.-14 others(32): Show c.-143_-142insCTGGGAGGAGGGCGGGGCGGGGG	TTLL12	ENSG00000100304.13	transcript	ENST00000216129.7	protein_coding		78		chr22	TogoVar
TTLL12_chr22_43161622_43192134	43187238	C C	CCCCCCGC others(16): Show CCCCCCGCCCCGCCCTCCTCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0084 a0001c0005t0003g0084	1	394	0.0025	23	c.-17 others(32): Show c.-170_-169insCTGGGAGGAGGGCGGGGCGGGGG	TTLL12	ENSG00000100304.13	transcript	ENST00000216129.7	protein_coding		105		chr22	TogoVar
TTLL12_chr22_43161622_43192134	43190258	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02572.hp1 HG01109.hp2 HG02572.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0006 a0001c0020t0006	a0001c0020t0006g0130 a0001c0020t0006g0149 a0001c0020t0006g0130 a0001c0020t0006g0149	2	394	0.0051	23	c.-31 others(34): Show c.-3190_-3189insTTTTTTTTTTTTTTTTTTTTTTT	TTLL12	ENSG00000100304.13	transcript	ENST00000216129.7	protein_coding		3125		chr22	TogoVar
TTLL1_chr22_43034516_43094391	43080902	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	360	0.0028	23	c.-89 others(38): Show c.-89-939_-89-917dupAAAAAAAAAAAAAAAAAAAAAAA	TTLL1	ENSG00000100271.17	transcript	ENST00000266254.12	protein_coding	1/10			chr22	TogoVar
TTLL5_chr14_75656246_75960079	75874933	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0181 a0002c0005t0001g0181	1	198	0.0051	23	c.352 others(42): Show c.3523-7734_3523-7733insTTTTTTTTTTTTTTTTTTTTTTT	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	29/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02155.hp1 HG02895.hp1 HG01517.hp2 HG02155.hp1 HG02895.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0086 a0001c0002t0001g0162 a0002c0003t0001g0087 a0001c0002t0001g0086 a0001c0002t0001g0162 a0002c0003t0001g0087	3	198	0.0152	23	c.382 others(44): Show c.3823+11810_3823+11811insAAAAAAAAAAAAATATATATATA	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18952.hp1 HG02735.hp1 NA18952.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0010c0013 a0001c0002 a0010c0013	a0001c0002t0001 a0010c0013t0001 a0001c0002t0001 a0010c0013t0001	a0001c0002t0001g0085 a0010c0013t0001g0160 a0001c0002t0001g0085 a0010c0013t0001g0160	2	198	0.0101	23	c.382 others(44): Show c.3823+11810_3823+11811insAAAAAAAAAAATATATATATATA	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0071 a0006c0009t0001g0071	1	198	0.0051	23	c.382 others(44): Show c.3823+11810_3823+11811insAAAAAAATATATATATATATATA	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTN_chr2_178520989_178812423	178686113	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03139.hp1 HG03195.hp1 others(2): Show HG02809.hp2 HG03139.hp1 HG03195.hp1 NA19043.hp1 NA20300.hp2	a0027 a0063 a0067 others(2): Show a0027 a0063 a0067 a0153 a0154	a0027c0029 a0063c0200 a0067c0030 others(2): Show a0027c0029 a0063c0200 a0067c0030 a0153c0114 a0154c0111	a0027c0029t0001 a0063c0200t0001 a0067c0030t0001 others(2): Show a0027c0029t0001 a0063c0200t0001 a0067c0030t0001 a0153c0114t0001 a0154c0111t0001	a0027c0029t0001g0118 a0063c0200t0001g0044 a0067c0030t0001g0239 others(2): Show a0027c0029t0001g0118 a0063c0200t0001g0044 a0067c0030t0001g0239 a0153c0114t0001g0188 a0154c0111t0001g0190	5	242	0.0207	23	c.323 others(42): Show c.32312-538_32312-516dupAAAAAAAAAAAAAAAAAAAAAAA	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	127/362			chr2	TogoVar
TTYH2_chr17_74208571_74267020	74213498	G G	GGCGGGGC others(16): Show GGCGGGGCCGGGGGCGGGGCGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG02647.hp1 others(2): Show HG01884.hp1 HG02615.hp1 HG02647.hp1 HG03139.hp2 HG03579.hp2	a0004 a0006 a0004 a0006	a0004c0006 a0006c0004 a0004c0006 a0006c0004	a0004c0006t0001 a0006c0004t0002 a0004c0006t0001 a0006c0004t0002	a0004c0006t0001g0079 a0004c0006t0001g0080 a0004c0006t0001g0082 others(2): Show a0004c0006t0001g0079 a0004c0006t0001g0080 a0004c0006t0001g0082 a0004c0006t0001g0106 a0006c0004t0002g0081	5	352	0.0142	23	c.-90 others(30): Show c.-90_-89insGCGGGGCCGGGGGCGGGGCGGGC	TTYH2	ENSG00000141540.11	transcript	ENST00000269346.9	protein_coding		72		chr17	TogoVar
TTYH2_chr17_74208571_74267020	74219387	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03486.hp2 HG02055.hp1 HG03486.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0002 a0005c0010t0004 a0001c0001t0002 a0005c0010t0004	a0001c0001t0002g0148 a0005c0010t0004g0099 a0001c0001t0002g0148 a0005c0010t0004g0099	2	352	0.0057	23	c.130 others(40): Show c.130-3082_130-3081insAAAAAAAAAAAAAAAAAAAAAAA	TTYH2	ENSG00000141540.11	transcript	ENST00000269346.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
TUBA1B_chr12_49122782_49136395	49123757	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	384	0.0026	23	c.42 others(34): Show c.4200_*4201insAAAAAAAAAAAAAAAAAAAAAAA	TUBA1B	ENSG00000123416.15	transcript	ENST00000336023.9	protein_coding		4024		chr12	TogoVar
TUBA1B_chr12_49122782_49136395	49135253	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	384	0.0026	23	c.-39 others(34): Show c.-3954_-3953insAAAAAAAAAAATATATATATATA	TUBA1B	ENSG00000123416.15	transcript	ENST00000336023.9	protein_coding		3859		chr12	TogoVar
TUBD1_chr17_59854479_59897943	59891478	G G	GCCATAGT others(16): Show GCCATAGTTACATGCTCAGTGTGT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0021 a0002c0001t0001g0021	1	360	0.0028	23	c.-39 others(38): Show c.-39-438_-39-437insACACACTGAGCATGTAACTATGG	TUBD1	ENSG00000108423.15	transcript	ENST00000325752.8	protein_coding	1/8			chr17	TogoVar
TUBGCP3_chr13_112480011_112593153	112578558	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0292 a0002c0006t0001g0292	1	312	0.0032	23	c.77- others(38): Show c.77-9322_77-9300dupTTTTTTTTTTTTTTTTTTTTTTT	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	1/21			chr13	TogoVar
TUBGCP3_chr13_112480011_112593153	112591601	G G	GGCCTACC others(16): Show GGCCTACCATGGTGGCAGCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0011 a0001c0007t0010g0011	1	312	0.0032	23	c.-36 others(34): Show c.-3622_-3621insGAGGAGCTGCCACCATGGTAGGC	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding		3449		chr13	TogoVar
TUBGCP4_chr15_43366101_43414771	43386377	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0262 a0001c0001t0005g0262	1	336	0.0030	23	c.101 others(38): Show c.1014+48_1014+49insATATATATATATATATATTTTTT	TUBGCP4	ENSG00000137822.13	transcript	ENST00000564079.6	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
TUBGCP4_chr15_43366101_43414771	43386377	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0258 a0001c0001t0005g0258	1	336	0.0030	23	c.101 others(38): Show c.1014+48_1014+49insATATATATATATATATTTTTTTT	TUBGCP4	ENSG00000137822.13	transcript	ENST00000564079.6	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
TUBGCP4_chr15_43366101_43414771	43386377	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01516.hp2 HG01517.hp2 HG00099.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0259 a0001c0001t0005g0024 a0001c0001t0005g0259	3	336	0.0089	23	c.101 others(38): Show c.1014+48_1014+49insATATATATATATATTTTTTTTTT	TUBGCP4	ENSG00000137822.13	transcript	ENST00000564079.6	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
TUBGCP4_chr15_43366101_43414771	43386377	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0268 a0001c0001t0013g0268	1	336	0.0030	23	c.101 others(38): Show c.1014+48_1014+49insATATATATATATTTTTTTTTTTT	TUBGCP4	ENSG00000137822.13	transcript	ENST00000564079.6	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
TUBGCP4_chr15_43366101_43414771	43386377	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0256 a0001c0003t0005g0256	1	336	0.0030	23	c.101 others(38): Show c.1014+48_1014+49insATATATATATTTTTTTTTTTTTT	TUBGCP4	ENSG00000137822.13	transcript	ENST00000564079.6	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
TUB_chr11_8076211_8111243	8090816	G G	GAGCACAT others(16): Show GAGCACATCTCCAGAGATGGCTGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0126 a0001c0002t0018g0126	1	456	0.0022	23	c.253 others(38): Show c.253+596_253+618dupCAGAGATGGCTGCAGCACATCTC	TUB	ENSG00000166402.9	transcript	ENST00000299506.3	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
TULP2_chr19_48875967_48903744	48887310	C C	CATTTTTT others(16): Show CATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	364	0.0028	23	c.948 others(38): Show c.948+639_948+640insAAAAAAAAAAAAAAAAAAAAAAT	TULP2	ENSG00000104804.9	transcript	ENST00000221399.8	protein_coding	8/12			chr19	TogoVar
TULP2_chr19_48875967_48903744	48887311	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18952.hp1 NA18955.hp1 others(7): Show HG00609.hp2 NA18952.hp1 NA18955.hp1 NA18960.hp1 NA18985.hp2 NA18988.hp1 NA18997.hp2 NA19000.hp2 NA19066.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0055 a0001c0001t0001g0079 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0055 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0104 a0001c0001t0001g0180	10	364	0.0275	23	c.948 others(38): Show c.948+616_948+638dupAAAAAAAAAAAAAAAAAAAAAAA	TULP2	ENSG00000104804.9	transcript	ENST00000221399.8	protein_coding	8/12			chr19	TogoVar
TULP4_chr6_158307465_158516828	158348173	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0232 a0001c0003t0015g0232	1	268	0.0037	23	c.252 others(42): Show c.252+33920_252+33921insTTTTTTTTTTTTTTTTTTTTTTT	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TULP4_chr6_158307465_158516828	158368066	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0091 a0001c0017t0091	a0001c0017t0091g0178 a0001c0017t0091g0178	1	268	0.0037	23	c.253 others(42): Show c.253-44977_253-44976insAAAAAAAAAAAAAAAAAAAAAAA	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TULP4_chr6_158307465_158516828	158385842	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG03017.hp1 others(5): Show HG00733.hp2 HG00735.hp1 HG03017.hp1 NA18942.hp2 NA18991.hp1 NA18998.hp1 NA19086.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0012 a0001c0001 a0001c0005 a0001c0012	a0001c0001t0002 a0001c0001t0005 a0001c0001t0031 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0031 a0001c0001t0067 a0001c0005t0012 a0001c0005t0017 a0001c0012t0001	a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0005g0117 others(5): Show a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0005g0117 a0001c0001t0031g0132 a0001c0001t0067g0118 a0001c0005t0012g0251 a0001c0005t0017g0252 a0001c0012t0001g0011	8	268	0.0299	23	c.253 others(42): Show c.253-27203_253-27202insTTTTTTTTTTTTTTTTTTTTTTT	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TULP4_chr6_158307465_158516828	158453485	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	268	0.0037	23	c.859 others(40): Show c.859+1219_859+1241dupAAAAAAAAAAAAAAAAAAAAAAA	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TUSC3_chr8_15535263_15771638	15570954	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03041.hp2 HG04199.hp1 HG00323.hp2 HG03041.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017	a0001c0001t0003g0029 a0001c0001t0004g0371 a0001c0001t0017g0078 a0001c0001t0003g0029 a0001c0001t0004g0371 a0001c0001t0017g0078	3	372	0.0081	23	c.138 others(42): Show c.138+30406_138+30407insTTTTTTTTTTTTTTTTTTTTTTT	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TUSC3_chr8_15535263_15771638	15738827	C C	CTTTTTTT others(16): Show CTTTTTTTTTTCTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01099.hp2 HG01167.hp1 others(1): Show HG00423.hp2 HG01099.hp2 HG01167.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0041 a0001c0001t0001 a0001c0001t0041	a0001c0001t0001g0165 a0001c0001t0001g0184 a0001c0001t0001g0266 others(1): Show a0001c0001t0001g0165 a0001c0001t0001g0184 a0001c0001t0001g0266 a0001c0001t0041g0268	4	372	0.0108	23	c.863 others(40): Show c.863-4701_863-4700insCTTTCTTTTTTTTTTTTTTTTTT	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TWIST2_chr2_238843085_238915534	238870555	C C	CACCCCAC others(16): Show CACCCCACACACACCACACCCCAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA19057.hp1 HG02293.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0142 a0001c0001t0002g0118 a0001c0001t0001g0142 a0001c0001t0002g0118	2	338	0.0059	23	c.35 others(42): Show c.35+21824_*35+21825insCCCACACACACCACACCCCATAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXLNG_chrX_16781466_16849519	16782389	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	264	0.0038	23	c.-40 others(34): Show c.-4099_-4098insTATATATATATATATATATATAT	TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding		4076		chrX	TogoVar
TXLNG_chrX_16781466_16849519	16843833	A A	ATTCTGTC others(16): Show ATTCTGTCTGGGATGCATTTGTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0012 a0001c0004t0033g0012	1	264	0.0038	23	c.20 others(34): Show c.2069_*2091dupTCTGTCTGGGATGCATTTGTTGT	TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding	10/10	2092	INFO_REALIGN_3_PRIME	chrX	TogoVar

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