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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TMC4_chr19_54155108_54178160	54174696	TTCCCTCC others(30): Show TTCCCTCCTCCCTCAGATCCAGGAGACCAGACCCCACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0119 a0001c0001t0001g0120	2	407	0.0049	-37	c.-16 others(48): Show c.-1616_-1580delGGTGGGGTCTGGTCTCCTGGATCTGAGGGAGGAG GGA		TMC4	ENSG00000167608.12	transcript	ENST00000619895.5	protein_coding					1537		chr19	TogoVar
TMCO3_chr13_113486021_113555229	113543376	ACCCCACC others(30): Show ACCCCACCTCCTCCCCCTGCCCTCCCTCTGTCCATGAC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA20300.hp2 HG02717.hp1 NA20300.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0306 a0001c0009t0004g0307 a0001c0009t0004g0306 a0001c0009t0004g0307	2	368	0.0054	-37	c.169 others(56): Show c.1690+3895_1691-3862delTCTGTCCATGACCCCCACCTCCTCCC CCTGCCCTCCC		TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
TMCO3_chr13_113486021_113555229	113543406	TCCATGAC others(30): Show TCCATGACCCCCACCTCCTCCCCCTGCCCTCCCCCTGC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02717.hp2 HG02723.hp2 others(4): Show HG02074.hp1 HG02717.hp2 HG02723.hp2 NA18940.hp2 NA18999.hp2 NA19001.hp1 NA19004.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0003 a0013c0018 a0001c0001 a0002c0003 a0013c0018	a0001c0001t0001 a0002c0003t0003 a0013c0018t0004 a0001c0001t0001 a0002c0003t0003 a0013c0018t0004	a0001c0001t0001g0177 a0001c0001t0001g0203 a0002c0003t0003g0255 others(4): Show a0001c0001t0001g0177 a0001c0001t0001g0203 a0002c0003t0003g0255 a0002c0003t0003g0268 a0002c0003t0003g0290 a0002c0003t0003g0291 a0013c0018t0004g0090	7	368	0.0190	-37	c.169 others(56): Show c.1691-3865_1691-3829delTCCCCCTGCCCATGACCCCCACCTCC TCCCCCTGCCC		TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM120B_chr12_121707752_121787068	121758513	TCACCATG others(30): Show TCACCATGGAGGAGGATGGCCTAGCTCCACGCTGTGGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02109.hp1 others(19): Show HG01109.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 others(10): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0021 a0001c0001t0026 a0001c0001t0035 a0001c0001t0063 a0001c0001t0070 a0001c0001t0078 a0001c0001t0109 a0001c0001t0110 a0001c0007t0026 a0002c0002t0009	a0001c0001t0003g0148 a0001c0001t0003g0180 a0001c0001t0005g0008 others(19): Show a0001c0001t0003g0148 a0001c0001t0003g0180 a0001c0001t0005g0008 a0001c0001t0005g0149 a0001c0001t0009g0004 a0001c0001t0009g0005 a0001c0001t0009g0151 a0001c0001t0009g0152 a0001c0001t0009g0289 a0001c0001t0021g0011 a0001c0001t0021g0013 a0001c0001t0026g0015 a0001c0001t0026g0016 a0001c0001t0035g0133 a0001c0001t0035g0134 a0001c0001t0063g0062 a0001c0001t0070g0063 a0001c0001t0078g0132 a0001c0001t0109g0182 a0001c0001t0110g0014 a0001c0007t0026g0017 a0002c0002t0009g0058	22	314	0.0701	-37	c.462 others(54): Show c.462-3120_462-3084delTGGCCTAGCTCCACGCTGTGGCCACCAT GGAGGAGGA		TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM126A_chr11_85642967_85661542	85655695	GGTCTAGC others(30): Show GGTCTAGCAGCCAGGTAGGAAATAAAAAACTTTTTATA	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0050 a0005c0004t0001g0050	1	398	0.0025	-37	c.383 others(47): Show c.383_395+24delGTCTAGCAGCCAGGTAGGAAATAAAAAACTTTTTA TA	p.Leu others(5): Show p.Leu129fs	TMEM126A	ENSG00000171202.7	transcript	ENST00000304511.7	protein_coding	4/5	513/759	383/588	128/195			chr11	TogoVar
TMEM131_chr2_97751336_98000948	97872864	ATTGGCAC others(30): Show ATTGGCACCTGGAACACCAGCAAGACAGAACCATTCAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	284	0.0035	-37	c.360 others(56): Show c.360-13474_360-13438delGTGAATGGTTCTGTCTTGCTGGTGTT CCAGGTGCCAA		TMEM131	ENSG00000075568.17	transcript	ENST00000186436.10	protein_coding	4/40						chr2	TogoVar
TMEM131_chr2_97751336_98000948	97943012	AAAAGAAA others(30): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01943.hp1 HG02129.hp2 others(11): Show HG01255.hp1 HG01943.hp1 HG02129.hp2 NA18942.hp2 NA18954.hp2 NA18957.hp1 NA18974.hp2 NA18977.hp2 NA18998.hp2 NA19002.hp1 NA19054.hp1 NA19060.hp1 NA19065.hp1 NA19070.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0003 a0003c0004 others(1): Show a0001c0001 a0002c0003 a0003c0004 a0008c0020	a0001c0001t0004 a0001c0001t0008 a0002c0003t0004 others(2): Show a0001c0001t0004 a0001c0001t0008 a0002c0003t0004 a0003c0004t0002 a0008c0020t0004	a0001c0001t0004g0166 a0001c0001t0008g0167 a0002c0003t0004g0172 others(11): Show a0001c0001t0004g0166 a0001c0001t0008g0167 a0002c0003t0004g0172 a0002c0003t0004g0199 a0003c0004t0002g0096 a0003c0004t0002g0097 a0003c0004t0002g0098 a0003c0004t0002g0100 a0003c0004t0002g0101 a0003c0004t0002g0102 a0003c0004t0002g0103 a0003c0004t0002g0105 a0003c0004t0002g0146 a0008c0020t0004g0170	14	284	0.0493	-37	c.188 others(56): Show c.188-15562_188-15526delCTTTCTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTT		TMEM131	ENSG00000075568.17	transcript	ENST00000186436.10	protein_coding	1/40						chr2	TogoVar
TMEM132C_chr12_128262170_128712911	128657992	AACAAGGC others(30): Show AACAAGGCAGGAGCAGGGACGCAGCTCCCATGGAGGCC	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0008 a0008	a0008c0078 a0008c0078	a0008c0078t0001 a0008c0078t0001	a0008c0078t0001g0094 a0008c0078t0001g0094	1	170	0.0059	-37	c.130 others(58): Show c.1306-11387_1306-11351delACAAGGCAGGAGCAGGGACGCAGC TCCCATGGAGGCC		TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128658067	TCAAGGCA others(30): Show TCAAGGCAGGAGCAGGGACGCAGCTCCCATGGAGGCCA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02280.hp1 others(14): Show HG01243.hp2 HG01891.hp2 HG02280.hp1 HG02559.hp1 HG02895.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03209.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA21309.hp1	a0002 a0003 a0004 others(5): Show a0002 a0003 a0004 a0005 a0006 a0013 a0029 a0033	a0002c0038 a0003c0009 a0003c0010 others(12): Show a0002c0038 a0003c0009 a0003c0010 a0003c0016 a0003c0070 a0004c0008 a0004c0059 a0005c0005 a0005c0051 a0006c0020 a0006c0021 a0006c0022 a0013c0090 a0029c0075 a0033c0092	a0002c0038t0002 a0003c0009t0001 a0003c0010t0003 others(12): Show a0002c0038t0002 a0003c0009t0001 a0003c0010t0003 a0003c0016t0008 a0003c0070t0002 a0004c0008t0013 a0004c0059t0002 a0005c0005t0002 a0005c0051t0003 a0006c0020t0002 a0006c0021t0002 a0006c0022t0007 a0013c0090t0002 a0029c0075t0003 a0033c0092t0005	a0002c0038t0002g0014 a0003c0009t0001g0073 a0003c0010t0003g0070 others(14): Show a0002c0038t0002g0014 a0003c0009t0001g0073 a0003c0010t0003g0070 a0003c0010t0003g0081 a0003c0016t0008g0093 a0003c0070t0002g0083 a0004c0008t0013g0091 a0004c0059t0002g0062 a0005c0005t0002g0146 a0005c0051t0003g0167 a0006c0020t0002g0143 a0006c0020t0002g0150 a0006c0021t0002g0002 a0006c0022t0007g0069 a0013c0090t0002g0162 a0029c0075t0003g0072 a0033c0092t0005g0019	17	170	0.1000	-37	c.130 others(58): Show c.1306-11192_1306-11156delAGCAGGGACGCAGCTCCCATGGAG GCCACAAGGCAGG		TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128712291	AAGCTAGA others(30): Show AAGCTAGAACAGCCCTAATTATGTAAGAAAATTATAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0145 a0011c0014t0001g0145	1	170	0.0059	-37	c.59 others(48): Show c.5997_*6033delAGCTAGAACAGCCCTAATTATGTAAGAAAATTAT AAC		TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding					4381		chr12	TogoVar
TMEM144_chr4_158205486_158260416	158257116	TATATAGT others(30): Show TATATAGTATTATATATTATATATAGTATTATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG00735.hp2 others(29): Show HG00639.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG02129.hp2 HG02683.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03516.hp2 HG03688.hp2 HG03834.hp2 HG04204.hp1 HG04204.hp2 NA18942.hp1 NA18950.hp1 NA18982.hp2 NA19005.hp1 NA20129.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0001t0027 a0001c0001t0034 a0001c0001t0035 a0001c0001t0041 a0001c0001t0042 a0001c0001t0048 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0029 a0001c0005t0022 a0004c0006t0003	a0001c0001t0001g0031 a0001c0001t0003g0007 a0001c0001t0003g0009 others(27): Show a0001c0001t0001g0031 a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0058 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0003g0076 a0001c0001t0003g0092 a0001c0001t0005g0181 a0001c0001t0019g0032 a0001c0001t0027g0225 a0001c0001t0034g0202 a0001c0001t0035g0208 a0001c0001t0041g0063 a0001c0001t0042g0073 a0001c0001t0048g0008 a0001c0002t0001g0022 a0001c0002t0001g0133 a0001c0002t0001g0155 a0001c0002t0001g0204 a0001c0002t0005g0151 a0001c0002t0008g0195 a0001c0002t0008g0199 a0001c0002t0008g0206 a0001c0002t0029g0216 a0001c0002t0029g0217 a0001c0005t0022g0027 a0004c0006t0003g0016	32	274	0.1168	-37	c.35 others(48): Show c.3590_*3626delATATAGTATTATATATTATATATAGTATTATATA TAA		TMEM144	ENSG00000164124.11	transcript	ENST00000296529.11	protein_coding					1701		chr4	TogoVar
TMEM150B_chr19_55307801_55330341	55320765	TCCCCCAG others(30): Show TCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	352	0.0028	-37	c.68+ others(50): Show c.68+167_69-149delTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGGG		TMEM150B	ENSG00000180061.10	transcript	ENST00000326652.9	protein_coding	3/7						chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19143412	TTGGAGGG others(30): Show TTGGAGGGTGGGAAGGAGTTTAAAAAGGAGACAAGTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	352	0.0028	-37	c.-50 others(48): Show c.-5021_-4985delCAACTTGTCTCCTTTTTAAACTCCTTCCCACCCT CCA		TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding					4935		chr19	TogoVar
TMEM163_chr2_134450759_134724000	134607698	AAGGAGGA others(30): Show AAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02109.hp2 HG02486.hp1 others(4): Show HG01175.hp1 HG02109.hp2 HG02486.hp1 HG02896.hp2 HG03579.hp1 HG04204.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 others(4): Show a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0002g0159 a0001c0001t0004g0166 a0001c0001t0005g0158 a0001c0001t0007g0022	7	222	0.0315	-37	c.323 others(56): Show c.323-55644_323-55608delCCTTTTCACCAGCACAGTTCTCGGGG TCTGTCCTCCT		TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7						chr2	TogoVar
TMEM163_chr2_134450759_134724000	134609379	GGAGGACA others(30): Show GGAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01081.hp1 HG01109.hp2 others(4): Show HG00733.hp2 HG01081.hp1 HG01109.hp2 HG03492.hp2 HG03927.hp1 NA18942.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0135 others(4): Show a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0003g0125 a0001c0001t0004g0121 a0001c0001t0006g0138	7	222	0.0315	-37	c.323 others(56): Show c.323-57325_323-57289delTTCCTTTTCACCAGTACAGTTCTCGG GGTCTGTCCTC		TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7						chr2	TogoVar
TMEM181_chr6_158555091_158640429	158606197	GGGGCGTG others(30): Show GGGGCGTGGGCGCTAGAGCCACAGGGAGCTGGAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0104 a0001c0001t0004g0104	1	334	0.0030	-37	c.573 others(52): Show c.573+918_574-943delGAGGGAAGGGCGTGGGCGCTAGAGCCACAG GGAGCTG		TMEM181	ENSG00000146433.10	transcript	ENST00000684151.1	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM186_chr16_8790180_8802639	8801754	TATTGTGT others(30): Show TATTGTGTGGCTTATGACTGTTGTATTTTCTTTCTTGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	456	0.0022	-37	c.-41 others(48): Show c.-4177_-4141delTCAAGAAAGAAAATACAACAGTCATAAGCCACAC AAT		TMEM186	ENSG00000184857.8	transcript	ENST00000333050.7	protein_coding					4116		chr16	TogoVar
TMEM190_chr19_55371826_55383246	55373400	GCAGACCC others(30): Show GCAGACCCGGGAGTCCAGGCCCCCAGCCCCTCCTCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00609.hp2 NA18947.hp1 HG00597.hp1 HG00609.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0019	3	336	0.0089	-37	c.-34 others(48): Show c.-3453_-3417delCAGACCCGGGAGTCCAGGCCCCCAGCCCCTCCTC CCT		TMEM190	ENSG00000160472.5	transcript	ENST00000291934.4	protein_coding					3425		chr19	TogoVar
TMEM190_chr19_55371826_55383246	55374917	CCCCCCAG others(30): Show CCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(106): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01517.hp1 HG01943.hp1 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp2 NA18946.hp2 NA18960.hp2 NA18965.hp1 NA18980.hp1 NA18998.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19059.hp2 NA19065.hp2 NA19067.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0002c0003t0001g0005	109	336	0.3244	-37	c.-19 others(48): Show c.-1936_-1900delCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC AGG		TMEM190	ENSG00000160472.5	transcript	ENST00000291934.4	protein_coding					1908		chr19	TogoVar
TMEM238_chr19_55374244_55389292	55374917	CCCCCCAG others(30): Show CCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(101): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01243.hp1 HG01257.hp1 HG01496.hp1 HG01517.hp1 HG01943.hp1 HG01975.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02109.hp2 HG02145.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18946.hp1 NA18980.hp2 NA18998.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19065.hp1 NA19067.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0006 others(1): Show a0001c0001 a0002c0002 a0003c0006 a0004c0007	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0003c0006t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0100 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0026 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0066 a0002c0002t0002g0034 a0003c0006t0001g0102 a0004c0007t0001g0103	104	328	0.3171	-37	c.44 others(48): Show c.4421_*4457delCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGG GGG		TMEM238	ENSG00000233493.4	transcript	ENST00000444469.4	protein_coding					4326		chr19	TogoVar
TMEM255B_chr13_113754226_113821995	113818054	CGGACGCC others(30): Show CGGACGCCGCAGTGCCGGGCTGGAGGCCGGGATCTGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02886.hp2 NA20300.hp1 HG02572.hp1 HG02886.hp2 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0170 a0005c0011t0069 a0005c0011t0070 a0001c0001t0170 a0005c0011t0069 a0005c0011t0070	a0001c0001t0170g0168 a0005c0011t0069g0165 a0005c0011t0070g0112 a0001c0001t0170g0168 a0005c0011t0069g0165 a0005c0011t0070g0112	3	260	0.0115	-37	c.61 others(48): Show c.6152_*6188delGGACGCCGCAGTGCCGGGCTGGAGGCCGGGATCT GAG		TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding					1060		chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113818064	AGTGCCGG others(30): Show AGTGCCGGGCTGGAGGCCGGGATCTGAGGGACGCCGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0218 a0001c0001t0062g0218	1	260	0.0039	-37	c.61 others(48): Show c.6162_*6198delGTGCCGGGCTGGAGGCCGGGATCTGAGGGACGCC GCG		TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding					1070		chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113818098	CGCGGTGC others(30): Show CGCGGTGCCGGGCTGGAGGCCGGGATCTGAGGGACGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0078 a0006c0015t0078	a0006c0015t0078g0023 a0006c0015t0078g0023	1	260	0.0039	-37	c.61 others(48): Show c.6196_*6232delGCGGTGCCGGGCTGGAGGCCGGGATCTGAGGGAC GCT		TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding					1104		chr13	TogoVar
TMEM265_chr16_30735642_30750196	30748998	CGGGTGGT others(30): Show CGGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	284	0.0035	-37	c.50 others(48): Show c.5056_*5092delGGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGT		TMEM265	ENSG00000281991.2	transcript	ENST00000615541.3	protein_coding					3803		chr16	TogoVar
TMEM86B_chr19_55221638_55233763	55224937	ACCCCAGC others(30): Show ACCCCAGCCCCTCCTCCCTCAGACGCAGGAGTCCAGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03540.hp1 HG02886.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	430	0.0047	-37	c.22 others(48): Show c.2207_*2243delGCCTGGACTCCTGCGTCTGAGGGAGGAGGGGCTG GGG		TMEM86B	ENSG00000180089.6	transcript	ENST00000327042.5	protein_coding					1700		chr19	TogoVar
TMEM87B_chr2_112050269_112124314	112114510	GTAGCATT others(30): Show GTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	316	0.0032	-37	c.160 others(56): Show c.1609-1573_1609-1537delTAGCATTACAGAAAGATTCATAACTC TACAGAAAGAT		TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18						chr2	TogoVar
TMEM94_chr17_75451635_75505452	75464603	TTTCCTTC others(30): Show TTTCCTTCCTTTCTTTCTTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02886.hp1 HG02602.hp2 HG02886.hp1	a0001 a0005 a0001 a0005	a0001c0004 a0005c0011 a0001c0004 a0005c0011	a0001c0004t0005 a0005c0011t0002 a0001c0004t0005 a0005c0011t0002	a0001c0004t0005g0022 a0005c0011t0002g0175 a0001c0004t0005g0022 a0005c0011t0002g0175	2	354	0.0057	-37	c.-10 others(56): Show c.-106-7186_-106-7150delTCTTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTT		TMEM94	ENSG00000177728.17	transcript	ENST00000314256.12	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr17	TogoVar
TMPRSS12_chr12_50837926_50892884	50881979	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0105 a0002c0002t0002g0105	1	390	0.0026	-37	c.653 others(54): Show c.653-3265_653-3229delAAAAAAAAAAAAAAAAAAATATATATAT ATATATATA		TMPRSS12	ENSG00000186452.11	transcript	ENST00000398458.4	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS12_chr12_50837926_50892884	50881985	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03471.hp2 HG02109.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0154 a0002c0002t0001g0155	2	390	0.0051	-37	c.653 others(54): Show c.653-3259_653-3223delAAAAAAAAAAAAATATATATATATATAT ATATATATA		TMPRSS12	ENSG00000186452.11	transcript	ENST00000398458.4	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474067	GGGGGTGA others(30): Show GGGGGTGAGTGGGGGGTGAGGGGGTGAGTGTGGGGTGA	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	382	0.0026	-37	c.728 others(52): Show c.728-608_728-572delTCACCCCACACTCACCCCCTCACCCCCCAC TCACCCC		TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13						chr21	TogoVar
TMTC1_chr12_29495840_29788942	29710920	TATATAAA others(30): Show TATATAAATATATTAATAATATATAAATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00642.hp1 others(30): Show HG00423.hp1 HG00597.hp1 HG00642.hp1 HG01123.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02132.hp2 HG02683.hp2 HG03492.hp2 HG03710.hp1 HG04184.hp2 HG04228.hp1 NA18942.hp1 NA18944.hp2 NA18964.hp2 NA18977.hp1 NA18984.hp1 NA18986.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19011.hp2 NA19012.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19074.hp1 NA19077.hp1 NA19086.hp2 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0016 a0001c0001t0031 a0001c0001t0035 a0001c0001t0050 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0016 a0001c0002t0032 a0001c0002t0034 a0001c0002t0036 a0001c0005t0033 a0001c0005t0079 a0001c0008t0004 a0001c0008t0032 a0002c0003t0008 a0002c0003t0017 a0002c0003t0085 a0002c0003t0087 a0002c0004t0008 a0002c0004t0093	a0001c0001t0001g0155 a0001c0001t0002g0176 a0001c0001t0003g0109 others(30): Show a0001c0001t0001g0155 a0001c0001t0002g0176 a0001c0001t0003g0109 a0001c0001t0005g0142 a0001c0001t0015g0077 a0001c0001t0016g0137 a0001c0001t0016g0184 a0001c0001t0031g0065 a0001c0001t0031g0066 a0001c0001t0035g0082 a0001c0001t0050g0143 a0001c0002t0001g0108 a0001c0002t0001g0162 a0001c0002t0004g0075 a0001c0002t0004g0079 a0001c0002t0004g0167 a0001c0002t0005g0136 a0001c0002t0016g0112 a0001c0002t0032g0063 a0001c0002t0034g0133 a0001c0002t0036g0118 a0001c0005t0033g0122 a0001c0005t0033g0194 a0001c0005t0079g0220 a0001c0008t0004g0139 a0001c0008t0032g0125 a0002c0003t0008g0238 a0002c0003t0017g0233 a0002c0003t0017g0249 a0002c0003t0085g0226 a0002c0003t0087g0247 a0002c0004t0008g0257 a0002c0004t0093g0260	33	276	0.1196	-37	c.938 others(56): Show c.938+40709_938+40745delTTATATATATATTTATATATTATTAA TATATTTATAT		TMTC1	ENSG00000133687.16	transcript	ENST00000539277.6	protein_coding	5/17						chr12	TogoVar
TNIP2_chr4_2736648_2761336	2756423	ACGCAGCC others(30): Show ACGCAGCCCCGCCCCCCGCGCAGCCCCGCCCTTCCCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0056 a0002c0001t0007g0056	1	424	0.0024	-37	c.-17 others(46): Show c.-171_-135delCGGGGAAGGGCGGGGCTGCGCGGGGGGCGGGGCTGC G		TNIP2	ENSG00000168884.15	transcript	ENST00000315423.12	protein_coding					88		chr4	TogoVar
TNNI3_chr19_55146767_55162732	55147682	TCTGGACT others(30): Show TCTGGACTCCTGGATCTGAGGGAGGAGGGGCCAGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	388	0.0026	-37	c.41 others(48): Show c.4115_*4151delGCCCCTGGCCCCTCCTCCCTCAGATCCAGGAGTC CAG		TNNI3	ENSG00000129991.13	transcript	ENST00000344887.10	protein_coding					4084		chr19	TogoVar
TNNI3_chr19_55146767_55162732	55147695	ATCTGAGG others(30): Show ATCTGAGGGAGGAGGGGCCAGGGGCCTGGACGCCTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01070.hp2 others(7): Show HG00639.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG02280.hp2 HG02451.hp1 HG03491.hp2 HG03492.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0069 a0001c0005t0001g0105	10	388	0.0258	-37	c.41 others(48): Show c.4102_*4138delCCCAGGCGTCCAGGCCCCTGGCCCCTCCTCCCTC AGA		TNNI3	ENSG00000129991.13	transcript	ENST00000344887.10	protein_coding					4071		chr19	TogoVar
TNNI3_chr19_55146767_55162732	55158198	GCCCCAGC others(30): Show GCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03209.hp2 HG03579.hp2 others(1): Show HG01884.hp1 HG03209.hp2 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0097 a0001c0001t0001g0025 a0001c0001t0001g0097	4	388	0.0103	-37	c.-64 others(46): Show c.-646_-610delGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG G		TNNI3	ENSG00000129991.13	transcript	ENST00000344887.10	protein_coding					467		chr19	TogoVar
TNNI3_chr19_55146767_55162732	55158373	CAGGAGTC others(30): Show CAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01243.hp1 others(23): Show HG00735.hp1 HG00741.hp1 HG01243.hp1 HG02055.hp2 HG02145.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03516.hp2 HG06807.hp2 NA18906.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0020 others(8): Show a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051	26	388	0.0670	-37	c.-82 others(46): Show c.-821_-785delCGGTCTGAGGGGAGAGGGATTGGGGTCCTGGACTCC T		TNNI3	ENSG00000129991.13	transcript	ENST00000344887.10	protein_coding					642		chr19	TogoVar
TNNI3_chr19_55146767_55162732	55159766	GAGGAGGG others(30): Show GAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00544.hp2 others(119): Show HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01884.hp1 HG01891.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03831.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18960.hp2 NA18963.hp1 NA18973.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18990.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp2 NA19062.hp2 NA19064.hp1 NA19067.hp2 NA19068.hp1 NA19080.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0003c0006t0003	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(41): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0004g0028 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0100 a0001c0002t0005g0106 a0001c0002t0005g0107 a0001c0003t0001g0012 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0003g0038 a0001c0005t0001g0105 a0003c0006t0003g0039	122	388	0.3144	-37	c.-22 others(48): Show c.-2214_-2178delTGCTTAGACCCAGGGGTCCAGGCCCCCAGCCCCT CCT		TNNI3	ENSG00000129991.13	transcript	ENST00000344887.10	protein_coding					2035		chr19	TogoVar
TNNT1_chr19_55127698_55154206	55147682	TCTGGACT others(30): Show TCTGGACTCCTGGATCTGAGGGAGGAGGGGCCAGGGGC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	320	0.0031	-37	c.-11 others(52): Show c.-11-551_-11-515delGCCCCTGGCCCCTCCTCCCTCAGATCCAGG AGTCCAG		TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	1/13						chr19	TogoVar
TNNT1_chr19_55127698_55154206	55147695	ATCTGAGG others(30): Show ATCTGAGGGAGGAGGGGCCAGGGGCCTGGACGCCTGGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp1 HG01070.hp2 others(7): Show HG00639.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG02280.hp1 HG02451.hp2 HG03491.hp1 HG03492.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0233 a0002c0002t0001g0003 a0002c0002t0001g0009 others(2): Show a0001c0001t0001g0233 a0002c0002t0001g0003 a0002c0002t0001g0009 a0002c0002t0001g0234 a0002c0002t0001g0235	10	320	0.0313	-37	c.-11 others(52): Show c.-11-564_-11-528delCCCAGGCGTCCAGGCCCCTGGCCCCTCCTC CCTCAGA		TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	1/13						chr19	TogoVar
TNR_chr1_175310194_175748595	175547618	AAACAAAG others(30): Show AAACAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp1 HG02970.hp2 others(1): Show HG02615.hp2 HG02886.hp1 HG02970.hp2 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0040 a0001c0003 a0001c0005 a0001c0040	a0001c0003t0008 a0001c0005t0007 a0001c0040t0028 a0001c0003t0008 a0001c0005t0007 a0001c0040t0028	a0001c0003t0008g0004 a0001c0003t0008g0114 a0001c0005t0007g0043 others(1): Show a0001c0003t0008g0004 a0001c0003t0008g0114 a0001c0005t0007g0043 a0001c0040t0028g0091	4	132	0.0303	-37	c.-16 others(58): Show c.-164-19286_-164-19250delCTTCCTTTCTTTCTTTCTCTTTCT TTCTTTCTTTGTT		TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	1/22						chr1	TogoVar
TOLLIP_chr11_1269371_1314632	1291642	TCTGAGGG others(30): Show TCTGAGGGCACGGCCGCCCCGTCCTCGCTGACCCCCCG	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0312 a0001c0001t0004g0312	1	348	0.0029	-37	c.184 others(54): Show c.184-1270_184-1234delCGGGGGGTCAGCGAGGACGGGGCGGCCG TGCCCTCAG		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5						chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1291713	CCCTCTGA others(30): Show CCCTCTGAGGGCACGGCCGCCCCGTCCTCACCGACCCA	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02647.hp2 HG02818.hp1 HG01993.hp1 HG02647.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0028 a0001c0001t0001g0082 a0001c0001t0001g0097	3	348	0.0086	-37	c.184 others(54): Show c.184-1341_184-1305delTGGGTCGGTGAGGACGGGGCGGCCGTGC CCTCAGAGG		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5						chr11	TogoVar
TPD52L1_chr6_125148773_125269407	125172120	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0300 a0001c0001t0002g0300	1	320	0.0031	-37	c.19+ others(54): Show c.19+18190_19+18226delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTT		TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
TPK1_chr7_144446941_144841053	144781094	ATATATTA others(30): Show ATATATTATATATGTAATATGTAATATATGTAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp1 NA19030.hp2 others(1): Show HG02145.hp1 HG02723.hp1 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0001g0097 a0001c0001t0002g0007 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0097 a0001c0001t0002g0007 a0001c0001t0002g0028	4	118	0.0339	-37	c.44- others(54): Show c.44-15180_44-15144delATATATTACATATATTACATATTACATA TATAATATA		TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8						chr7	TogoVar
TRAPPC2L_chr16_88852127_88867678	88855028	CACGGCCT others(30): Show CACGGCCTGAACCCTTGCTGTCCTATGGAAACGTAGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	450	0.0022	-37	c.-21 others(48): Show c.-2122_-2086delACGGCCTGAACCCTTGCTGTCCTATGGAAACGTA GGG		TRAPPC2L	ENSG00000167515.11	transcript	ENST00000696289.1	protein_coding					2098		chr16	TogoVar
TRAPPC9_chr8_139722725_140462744	140349208	GGGAAGGG others(30): Show GGGAAGGGCACAGAAGGGGGCCGAAGGGGGCACACGAC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01169.hp1 others(4): Show HG00735.hp1 HG01069.hp2 HG01169.hp1 HG01433.hp2 HG02055.hp2 HG02886.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0022 a0001c0027	a0001c0001t0001 a0001c0002t0003 a0001c0002t0022 others(3): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0022 a0001c0004t0004 a0001c0022t0002 a0001c0027t0012	a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0002t0003g0041 others(4): Show a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0002t0003g0041 a0001c0002t0022g0009 a0001c0004t0004g0087 a0001c0022t0002g0040 a0001c0027t0012g0012	7	98	0.0714	-37	c.149 others(58): Show c.1495+10805_1495+10841delGTCGTGTGCCCCCTTCGGCCCCCT TCTGTGCCCTTCC		TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	9/22						chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	140349303	TGAAGGAG others(30): Show TGAAGGAGGCACGCAAGGAGAGGGCACACAAGGGGGCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG02922.hp2 HG01891.hp1 HG02809.hp1 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0020 a0001c0002 a0001c0009 a0001c0020	a0001c0002t0007 a0001c0009t0021 a0001c0020t0007 a0001c0002t0007 a0001c0009t0021 a0001c0020t0007	a0001c0002t0007g0022 a0001c0009t0021g0042 a0001c0020t0007g0034 a0001c0002t0007g0022 a0001c0009t0021g0042 a0001c0020t0007g0034	3	98	0.0306	-37	c.149 others(58): Show c.1495+10710_1495+10746delGGCCCCCTTGTGTGCCCTCTCCTT GCGTGCCTCCTTC		TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	9/22						chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	140349360	AGGGCGCG others(30): Show AGGGCGCGCGAGGGAAGGGCACACAGCGGGGCCGATGG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0082 a0001c0001t0025g0082	1	98	0.0102	-37	c.149 others(58): Show c.1495+10653_1495+10689delCCATCGGCCCCGCTGTGTGCCCTT CCCTCGCGCGCCC		TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	9/22						chr8	TogoVar
TRARG1_chr17_1274662_1305978	1288965	CTCCCCAT others(30): Show CTCCCCATCCCCCACGGGCTCCCCATCCCCCACCGGGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00609.hp2 others(48): Show HG00323.hp1 HG00558.hp1 HG00609.hp2 HG01123.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01928.hp2 HG01993.hp1 HG02040.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18947.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18977.hp1 NA18984.hp2 NA18989.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19005.hp1 NA19064.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19085.hp1 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0012	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0012c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 a0001c0001t0030 a0001c0001t0037 a0001c0001t0042 a0001c0001t0043 a0003c0003t0039 a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0004c0004t0006 a0004c0004t0030 a0004c0004t0036 a0004c0004t0038 a0004c0004t0040 a0012c0012t0002	a0001c0001t0001g0259 a0001c0001t0002g0044 a0001c0001t0002g0045 others(38): Show a0001c0001t0001g0259 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0065 a0001c0001t0002g0099 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0254 a0001c0001t0002g0279 a0001c0001t0004g0275 a0001c0001t0006g0113 a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0010g0019 a0001c0001t0010g0255 a0001c0001t0017g0276 a0001c0001t0030g0005 a0001c0001t0037g0273 a0001c0001t0042g0258 a0001c0001t0043g0111 a0003c0003t0039g0110 a0004c0004t0001g0266 a0004c0004t0002g0005 a0004c0004t0002g0010 a0004c0004t0002g0256 a0004c0004t0002g0257 a0004c0004t0002g0261 a0004c0004t0002g0265 a0004c0004t0002g0267 a0004c0004t0002g0269 a0004c0004t0004g0005 a0004c0004t0004g0268 a0004c0004t0006g0020 a0004c0004t0006g0271 a0004c0004t0006g0272 a0004c0004t0006g0278 a0004c0004t0030g0260 a0004c0004t0036g0274 a0004c0004t0038g0262 a0004c0004t0040g0270 a0012c0012t0002g0020	51	402	0.1269	-37	c.388 others(54): Show c.388-6493_388-6457delCGGGTTCCCCATCCCCCACGGGCTCCCC ATCCCCCAC		TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr17	TogoVar
TRIM46_chr1_155168849_155189970	155189933	GGGGGGGC others(30): Show GGGGGGGCGGTGGAGCCCGGGGCGGGACTGGTGTCCGG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	348	0.0029	-37	c.57 others(48): Show c.5744_*5780delGGGGGGCGGTGGAGCCCGGGGCGGGACTGGTGTC CGG		TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding					4964		chr1	TogoVar

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Search Results (Total: 1847 hits)