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
THBS3_chr1_155190588_155212897	155190865	C C	CCGGGGCC others(18): Show CCGGGGCCGAGGTGACACCGTGGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG02074.hp2 HG02258.hp1 others(3): Show HG01517.hp1 HG02074.hp2 HG02258.hp1 HG02809.hp2 NA18906.hp1 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0002c0002t0001g0024 a0001c0001t0001g0002 a0002c0002t0001g0024	6	298	0.0201	25	c.49 others(36): Show c.4975_*4976insAGCCCACGGTGTCACCTCGGCCCCG	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4722		chr1	TogoVar
THBS4_chr5_80030348_80088287	80080579	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18972.hp2 NA18939.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0058 a0001c0003t0001g0212 a0001c0001t0001g0058 a0001c0003t0001g0212	2	394	0.0051	25	c.268 others(42): Show c.2684+503_2684+527dupTTTTTTTTTTTTTTTTTTTTTTTTT	THBS4	ENSG00000113296.14	transcript	ENST00000350881.6	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
THBS4_chr5_80030348_80088287	80088261	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	394	0.0025	25	c.51 others(36): Show c.5120_*5121insATATATATATATATATATATATATA	THBS4	ENSG00000113296.14	transcript	ENST00000350881.6	protein_coding		4975		chr5	TogoVar
THEGL_chr4_56525606_56608507	56553675	T T	TGAGCCAA others(18): Show TGAGCCAATTGTTAAAATTGATGAGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03491.hp1 HG03492.hp2 others(1): Show HG00099.hp2 HG03491.hp1 HG03492.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0368 others(1): Show a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0368 a0001c0001t0001g0369	4	384	0.0104	25	c.593 others(42): Show c.593+1061_593+1062insGAGCCAATTGTTAAAATTGATGAGC	THEGL	ENSG00000249693.3	transcript	ENST00000512175.3	protein_coding	3/8			chr4	TogoVar
THEG_chr19_356747_381026	376741	T T	TGTGTGCC others(18): Show TGTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0353	1	370	0.0027	25	c.-77 others(34): Show c.-772_-771insGGGGGAGAGGCTGGGTGGGGCACAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		716		chr19	TogoVar
THEG_chr19_356747_381026	376743	T T	TGTGCCCC others(18): Show TGTGCCCCACCCAGCCTCTCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0023 a0006c0006t0023	a0006c0006t0023g0165 a0006c0006t0023g0165	1	370	0.0027	25	c.-77 others(34): Show c.-774_-773insGGGGGGGAGAGGCTGGGTGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		718		chr19	TogoVar
THEG_chr19_356747_381026	376767	T T	TGTGTGCC others(18): Show TGTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0106 a0001c0001t0016g0106	1	370	0.0027	25	c.-79 others(34): Show c.-798_-797insGGGGGAGAGGCTGGGTGGGGCACAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		742		chr19	TogoVar
THEG_chr19_356747_381026	376773	C C	CCCCACCC others(18): Show CCCCACCCAGCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	370	0.0027	25	c.-80 others(34): Show c.-804_-803insCACAGAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		748		chr19	TogoVar
THEG_chr19_356747_381026	376794	T T	TGTGTGCC others(18): Show TGTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0317 a0002c0002t0003g0317	1	370	0.0027	25	c.-82 others(34): Show c.-825_-824insGGGGGAGAGGCTGGGTGGGGCACAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		769		chr19	TogoVar
THEG_chr19_356747_381026	376796	C C	CGTGCCCC others(18): Show CGTGCCCCACCCAGCCTCTCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 NA20300.hp1 HG01928.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0145 a0001c0001t0001g0149	2	370	0.0054	25	c.-82 others(34): Show c.-827_-826insAGGGGGGAGAGGCTGGGTGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		771		chr19	TogoVar
THEG_chr19_356747_381026	376820	T T	TGTGTGCC others(18): Show TGTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0321 a0002c0002t0001g0321	1	370	0.0027	25	c.-85 others(34): Show c.-851_-850insGGGGGAGAGGCTGGGTGGGGCACAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		795		chr19	TogoVar
THEG_chr19_356747_381026	376879	C C	CCCCACCC others(18): Show CCCCACCCAGCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0053 a0001c0003t0053	a0001c0003t0053g0142 a0001c0003t0053g0142	1	370	0.0027	25	c.-91 others(34): Show c.-910_-909insCACAGAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		854		chr19	TogoVar
THEG_chr19_356747_381026	377029	T T	TCTGTGCC others(18): Show TCTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0275 a0002c0002t0001g0275	1	370	0.0027	25	c.-10 others(36): Show c.-1060_-1059insGGGGGAGAGGCTGGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1004		chr19	TogoVar
THEG_chr19_356747_381026	377137	C C	CCCCACCC others(18): Show CCCCACCCAGCCTCTCCCCCCCCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0325 a0005c0005t0004g0325	1	370	0.0027	25	c.-11 others(36): Show c.-1168_-1167insCACGGGGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1112		chr19	TogoVar
THEG_chr19_356747_381026	377137	C C	CCCCACCC others(18): Show CCCCACCCAGCCTCTCCCCCTCTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0098 a0001c0001t0005g0098	1	370	0.0027	25	c.-11 others(36): Show c.-1168_-1167insTACAGAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1112		chr19	TogoVar
THEG_chr19_356747_381026	377137	C C	CCCCCACC others(18): Show CCCCCACCCAGCCTCTCCCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	370	0.0027	25	c.-11 others(36): Show c.-1168_-1167insCACAGGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1112		chr19	TogoVar
THEG_chr19_356747_381026	377235	T T	TCTGTGCC others(18): Show TCTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0009 a0005c0005t0009	a0005c0005t0009g0104 a0005c0005t0009g0104	1	370	0.0027	25	c.-12 others(36): Show c.-1266_-1265insGGGGGAGAGGCTGGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1210		chr19	TogoVar
THEG_chr19_356747_381026	377282	C C	CCCCCTCT others(18): Show CCCCCTCTGTACCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	370	0.0027	25	c.-13 others(36): Show c.-1313_-1312insAGAGGCTGGGTGGGGTACAGAGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1257		chr19	TogoVar
THEG_chr19_356747_381026	377282	C C	CCCCCTCT others(18): Show CCCCCTCTGTGCCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02698.hp1 NA18994.hp2 others(1): Show HG02451.hp2 HG02698.hp1 NA18994.hp2 NA19078.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0003 a0001c0009 a0002c0002 others(1): Show a0001c0003 a0001c0009 a0002c0002 a0006c0036	a0001c0003t0002 a0001c0009t0002 a0002c0002t0001 others(1): Show a0001c0003t0002 a0001c0009t0002 a0002c0002t0001 a0006c0036t0001	a0001c0003t0002g0024 a0001c0009t0002g0072 a0002c0002t0001g0218 others(1): Show a0001c0003t0002g0024 a0001c0009t0002g0072 a0002c0002t0001g0218 a0006c0036t0001g0354	4	370	0.0108	25	c.-13 others(36): Show c.-1313_-1312insAGAGGCTGGGTGGGGCACAGAGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1257		chr19	TogoVar
THEG_chr19_356747_381026	377320	C C	CCCCACCC others(18): Show CCCCACCCAGCCTCTCCCCCTCTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0019 a0001c0003t0002g0019	1	370	0.0027	25	c.-13 others(36): Show c.-1351_-1350insTACAGAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1295		chr19	TogoVar
THEG_chr19_356747_381026	377320	C C	CCCCATCC others(18): Show CCCCATCCAGCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0162 a0006c0006t0001g0162	1	370	0.0027	25	c.-13 others(36): Show c.-1351_-1350insCACAGAGGGGGAGAGGCTGGATGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1295		chr19	TogoVar
THEG_chr19_356747_381026	377366	T T	TCTGTGCC others(18): Show TCTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0192 a0003c0004t0004g0192	1	370	0.0027	25	c.-13 others(36): Show c.-1397_-1396insGGGGGAGAGGCTGGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1341		chr19	TogoVar
THEG_chr19_356747_381026	377392	T T	TCTGTGCC others(18): Show TCTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01361.hp2 NA18965.hp1 HG00544.hp1 HG01361.hp2 NA18965.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0010 a0001c0001 a0002c0002 a0007c0010	a0001c0001t0003 a0002c0002t0051 a0007c0010t0003 a0001c0001t0003 a0002c0002t0051 a0007c0010t0003	a0001c0001t0003g0158 a0002c0002t0051g0179 a0007c0010t0003g0185 a0001c0001t0003g0158 a0002c0002t0051g0179 a0007c0010t0003g0185	3	370	0.0081	25	c.-14 others(36): Show c.-1423_-1422insGGGGGAGAGGCTGGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1367		chr19	TogoVar
THEG_chr19_356747_381026	377475	C C	CCCCACCC others(18): Show CCCCACCCAGCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02970.hp1 NA18522.hp2 others(1): Show HG02145.hp2 HG02970.hp1 NA18522.hp2 NA19010.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0007 a0004c0020 a0002c0002 a0004c0007 a0004c0020	a0002c0002t0001 a0004c0007t0028 a0004c0007t0030 others(1): Show a0002c0002t0001 a0004c0007t0028 a0004c0007t0030 a0004c0020t0033	a0002c0002t0001g0332 a0004c0007t0028g0026 a0004c0007t0030g0020 others(1): Show a0002c0002t0001g0332 a0004c0007t0028g0026 a0004c0007t0030g0020 a0004c0020t0033g0021	4	370	0.0108	25	c.-15 others(36): Show c.-1506_-1505insCACAGAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1450		chr19	TogoVar
THEM6_chr8_142722223_142741927	142725175	G G	GAGTGTGT others(18): Show GAGTGTGTTGATAATCTTTTTTTAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	414	0.0024	25	c.-21 others(36): Show c.-2172_-2171insAGTGTGTTGATAATCTTTTTTTAGT	THEM6	ENSG00000130193.8	transcript	ENST00000336138.4	protein_coding		2047		chr8	TogoVar
THEMIS_chr6_127703200_127906058	127730277	T T	TAAAGAAA others(18): Show TAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01256.hp2 HG01496.hp1 others(3): Show HG00140.hp1 HG01256.hp2 HG01496.hp1 HG01993.hp1 HG03704.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0145 a0001c0002t0002g0148 a0001c0002t0002g0163 others(3): Show a0001c0002t0002g0145 a0001c0002t0002g0148 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0218	6	223	0.0269	25	c.175 others(46): Show c.1759-10479_1759-10455dupTCTTTTCTTTTCTTTTCTTTTCTT T	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
THEMIS_chr6_127703200_127906058	127731864	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp1 HG01433.hp1 others(6): Show HG00323.hp1 HG01106.hp1 HG01433.hp1 HG01943.hp1 HG02004.hp2 HG02293.hp2 HG03041.hp1 HG03486.hp1 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0002c0001 a0001c0002 a0001c0007 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0007t0001 a0002c0001t0001	a0001c0002t0001g0069 a0001c0002t0002g0043 a0001c0002t0005g0216 others(6): Show a0001c0002t0001g0069 a0001c0002t0002g0043 a0001c0002t0005g0216 a0001c0007t0001g0042 a0002c0001t0001g0107 a0002c0001t0001g0109 a0002c0001t0001g0110 a0002c0001t0001g0120 a0002c0001t0001g0126	9	223	0.0404	25	c.175 others(46): Show c.1759-12042_1759-12041insAAAAAAAAAAAAAAAAAAAAAAAA A	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
THOC3_chr5_175954531_175973315	175967544	T T	TACCACCA others(18): Show TACCACCAACGTACCACCAACGTACC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp1 HG01884.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	2	259	0.0077	25	c.268 others(40): Show c.268-278_268-277insGGTACGTTGGTGGTACGTTGGTGGT	THOC3	ENSG00000051596.10	transcript	ENST00000265097.9	protein_coding	1/5			chr5	TogoVar
THOC3_chr5_175954531_175973315	175967561	C C	CACCAACG others(18): Show CACCAACGTACCACCACCACCAACGT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0091 a0002c0004t0003g0091	1	259	0.0039	25	c.268 others(40): Show c.268-295_268-294insACGTTGGTGGTGGTGGTACGTTGGT	THOC3	ENSG00000051596.10	transcript	ENST00000265097.9	protein_coding	1/5			chr5	TogoVar
THOP1_chr19_2780503_2820807	2820684	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01516.hp1 HG01993.hp2 others(10): Show HG01081.hp1 HG01516.hp1 HG01993.hp2 HG02165.hp2 HG03453.hp1 NA18943.hp1 NA18961.hp2 NA18983.hp1 NA18999.hp2 NA19058.hp2 NA19091.hp1 NA20905.hp1 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0009c0013t0002	a0001c0001t0001g0150 a0001c0001t0002g0002 a0001c0001t0002g0020 others(9): Show a0001c0001t0001g0150 a0001c0001t0002g0002 a0001c0001t0002g0020 a0001c0001t0002g0160 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0225 a0001c0001t0014g0020 a0009c0013t0002g0192	13	370	0.0351	25	c.74 others(36): Show c.7408_*7409insTTTTTTTTTTTTTTTTTTTTTTTTT	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		4878		chr19	TogoVar
THRAP3_chr1_36219443_36310357	36253760	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0196 a0001c0001t0005g0196	1	252	0.0040	25	c.-13 others(44): Show c.-134-5603_-134-5602insTTTTTTTTTTTTTTTTTTTTTTTTT	THRAP3	ENSG00000054118.15	transcript	ENST00000354618.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
THRAP3_chr1_36219443_36310357	36270571	G G	GGTTTTTT others(18): Show GGTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0027 a0003c0004t0002g0027	1	252	0.0040	25	c.-32 others(44): Show c.-32+11087_-32+11088insGTTTTTTTTTTTTTTTTTTTTTTTT	THRAP3	ENSG00000054118.15	transcript	ENST00000354618.10	protein_coding	2/11			chr1	TogoVar
THSD1_chr13_52372167_52411172	52375612	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 NA18994.hp1 HG01099.hp1 NA18994.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0038 a0002c0003t0003g0188 a0002c0003t0003g0038 a0002c0003t0003g0188	2	316	0.0063	25	c.17 others(36): Show c.1798_*1799insTTTTTTTTTTTTTTTTTTTTTTTTT	THSD1	ENSG00000136114.17	transcript	ENST00000258613.5	protein_coding		1554		chr13	TogoVar
THSD4_chr15_71110471_71788383	71172702	T T	TATATATA others(18): Show TATATATATATATATATATATGTGAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0070 a0001c0007t0007g0070	1	116	0.0086	25	c.99+ others(42): Show c.99+17790_99+17791insGTGACATATATATATATATATATAT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71277125	C C	CTTTCTTC others(18): Show CTTTCTTCTTCTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0013 a0001c0009t0013	a0001c0009t0013g0039 a0001c0009t0013g0039	1	116	0.0086	25	c.101 others(46): Show c.1015+20412_1015+20413insTCTTCTTCTTCTTTTTTTTTTTTT T	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71326686	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0019 a0002c0005t0019	a0002c0005t0019g0003 a0002c0005t0019g0003	1	116	0.0086	25	c.101 others(46): Show c.1015+69971_1015+69972insTATATATATATATATATATATATA T	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17			chr15	TogoVar
THSD4_chr15_71110471_71788383	71326700	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0023 a0005c0017t0023	a0005c0017t0023g0105 a0005c0017t0023g0105	1	116	0.0086	25	c.101 others(46): Show c.1015+69986_1015+69987insAAATATATATATATATATATATAT A	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71577709	A A	ATTTATTT others(18): Show ATTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02683.hp2 HG02965.hp1 others(4): Show HG01255.hp1 HG02683.hp2 HG02965.hp1 HG02970.hp1 HG03654.hp1 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0018 a0001c0002t0024 a0001c0004t0005 a0001c0004t0007	a0001c0001t0002g0102 a0001c0001t0003g0022 a0001c0001t0010g0055 others(4): Show a0001c0001t0002g0102 a0001c0001t0003g0022 a0001c0001t0010g0055 a0001c0001t0018g0115 a0001c0002t0024g0019 a0001c0004t0005g0100 a0001c0004t0007g0062	7	116	0.0603	25	c.115 others(46): Show c.1153-82817_1153-82793dupATTTTATTTTATTTTATTTTATTT T	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD7A_chr7_11365365_11837198	11509821	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01257.hp2 HG01975.hp2 others(7): Show HG01109.hp1 HG01257.hp2 HG01975.hp2 HG02083.hp2 HG02300.hp1 HG03491.hp2 HG03831.hp2 NA18959.hp1 NA18999.hp2 NA19064.hp2	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0024	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0012 a0002c0005 a0002c0007 a0002c0019 a0009c0069 a0024c0068	a0001c0001t0001 a0001c0001t0005 a0001c0002t0005 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0005 a0001c0006t0001 a0001c0012t0001 a0002c0005t0003 a0002c0007t0011 a0002c0019t0003 a0009c0069t0063 a0024c0068t0018	a0001c0001t0001g0112 a0001c0001t0005g0113 a0001c0002t0005g0101 others(7): Show a0001c0001t0001g0112 a0001c0001t0005g0113 a0001c0002t0005g0101 a0001c0006t0001g0052 a0001c0012t0001g0013 a0002c0005t0003g0133 a0002c0007t0011g0046 a0002c0019t0003g0116 a0009c0069t0063g0179 a0024c0068t0018g0177	10	180	0.0556	25	c.182 others(46): Show c.1823-27840_1823-27839insTTTTTTTTTTTTTTTTTTTTTTTT T	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	6/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11566965	T T	TAGCGGGA others(18): Show TAGCGGGAGGGGGGGGGGGGGGCGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0032 a0001c0002t0047g0032	1	180	0.0056	25	c.145 others(46): Show c.1453+23494_1453+23495insCCCGCCCCCCCCCCCCCCTCCCGC T	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	4/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11566965	T T	TAGCGGGG others(18): Show TAGCGGGGGGGGGGGGGGGGGGCGGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0132 a0001c0002t0053g0132	1	180	0.0056	25	c.145 others(46): Show c.1453+23494_1453+23495insCCCGCCCCCCCCCCCCCCCCCCGC T	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	4/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11566965	T T	TAGCGGGG others(18): Show TAGCGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19043.hp2 HG02615.hp1 NA19043.hp2	a0001 a0001	a0001c0012 a0001c0014 a0001c0012 a0001c0014	a0001c0012t0008 a0001c0014t0038 a0001c0012t0008 a0001c0014t0038	a0001c0012t0008g0176 a0001c0014t0038g0062 a0001c0012t0008g0176 a0001c0014t0038g0062	2	180	0.0111	25	c.145 others(46): Show c.1453+23494_1453+23495insCCCCCCCCCCCCCCCCCCCCCCGC T	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	4/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	180	0.0056	25	c.190 others(44): Show c.190+62603_190+62604insAAAAAAAAAAAAATATATATATATA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0016 a0001c0006t0016	a0001c0006t0016g0095 a0001c0006t0016g0095	1	180	0.0056	25	c.190 others(44): Show c.190+62603_190+62604insAAAAAAAAAAAAAAATATATATATA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATTTTT others(18): Show ATATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0151 a0001c0002t0003g0151	1	180	0.0056	25	c.190 others(44): Show c.190+62603_190+62604insAAAAAAAAAAAAAAAAAAAAAAATA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769154	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0089 a0001c0002t0011g0089	1	180	0.0056	25	c.190 others(44): Show c.190+62602_190+62603insTATATATATATATATATATATATAT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7B_chr2_136760545_137682718	137091491	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0022 a0022	a0022c0015 a0022c0015	a0022c0015t0005 a0022c0015t0005	a0022c0015t0005g0098 a0022c0015t0005g0098	1	98	0.0102	25	c.951 others(42): Show c.951-3374_951-3350dupTTATTTTATTTTATTTTATTTTATT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD8_chr19_12797069_12809389	12805131	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG04204.hp1 HG03239.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	420	0.0048	25	c.82 others(34): Show c.828_*829insAAAAAAAAAAAAAAAAAAAAAAAAA	THSD8	ENSG00000284491.3	transcript	ENST00000639810.3	protein_coding		743		chr19	TogoVar
THUMPD2_chr2_39731061_39784258	39773551	A A	ATTTAAAA others(18): Show ATTTAAAAATATATATATATTTATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01928.hp1 NA19063.hp1 others(1): Show HG01516.hp1 HG01928.hp1 NA19063.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0206 others(1): Show a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0206 a0001c0001t0002g0207	4	338	0.0118	25	c.127 others(42): Show c.127-1936_127-1912dupATATAAATATATATATATTTTTAAA	THUMPD2	ENSG00000138050.15	transcript	ENST00000505747.6	protein_coding	1/9			chr2	TogoVar
THUMPD3_chr3_9358054_9391791	9381756	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	378	0.0027	25	c.112 others(44): Show c.1124+1155_1124+1179dupTTTTTTTTTTTTTTTTTTTTTTTTT	THUMPD3	ENSG00000134077.16	transcript	ENST00000452837.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar

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