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
TECR_chr19_14524594_14570980	14535534	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	332	0.0030	-31	c.15+ others(46): Show c.15+5825_15+5855delAAAAAAAAATATATATATATATATATATAT A		TECR	ENSG00000099797.15	transcript	ENST00000215567.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
TECR_chr19_14524594_14570980	14535536	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02258.hp2 HG02486.hp1 others(5): Show HG00735.hp1 HG02258.hp2 HG02486.hp1 HG03209.hp2 HG03225.hp1 HG03710.hp1 NA18960.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0106 others(5): Show a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0140 a0001c0002t0001g0123 a0001c0002t0001g0124	8	332	0.0241	-31	c.15+ others(46): Show c.15+5827_15+5857delAAAAAAATATATATATATATATATATATAT A		TECR	ENSG00000099797.15	transcript	ENST00000215567.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
TECR_chr19_14524594_14570980	14535538	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG04199.hp1 HG01175.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0001g0099 a0001c0001t0001g0118	2	332	0.0060	-31	c.15+ others(46): Show c.15+5829_15+5859delAAAAATATATATATATATATATATATATAT A		TECR	ENSG00000099797.15	transcript	ENST00000215567.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
TECR_chr19_14524594_14570980	14535540	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG04204.hp2 HG04228.hp2 HG01192.hp2 HG04204.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116	3	332	0.0090	-31	c.15+ others(46): Show c.15+5831_15+5861delAAATATATATATATATATATATATATATAT A		TECR	ENSG00000099797.15	transcript	ENST00000215567.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
TECTB_chr10_112278400_112310038	112300231	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00738.hp1 HG01070.hp2 others(28): Show HG00609.hp1 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01175.hp1 HG01516.hp1 HG01516.hp2 HG02015.hp1 HG02056.hp1 HG02129.hp1 HG02257.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp2 HG02602.hp2 HG02698.hp1 HG03490.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG03927.hp2 NA18961.hp1 NA18992.hp2 NA19000.hp1 NA19030.hp1 NA19055.hp1 NA19075.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0003c0012	a0001c0001t0001 a0001c0002t0001 a0001c0002t0008 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0008 a0001c0002t0018 a0002c0004t0001 a0003c0012t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0042 others(22): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0094 a0001c0001t0001g0129 a0001c0001t0001g0177 a0001c0001t0001g0197 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0277 a0001c0001t0001g0318 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0336 a0001c0001t0001g0356 a0001c0002t0001g0012 a0001c0002t0001g0027 a0001c0002t0001g0215 a0001c0002t0001g0218 a0001c0002t0008g0268 a0001c0002t0018g0122 a0002c0004t0001g0250 a0003c0012t0001g0068	31	438	0.0708	-31	c.907 others(46): Show c.907+670_907+700delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A		TECTB	ENSG00000119913.6	transcript	ENST00000646139.2	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
TECTB_chr10_112278400_112310038	112300295	GAAAGAAA others(24): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	438	0.0023	-31	c.907 others(46): Show c.907+735_907+765delGAAAGAAAGAAAGAAAGAAAGAGAAAGAAA A		TECTB	ENSG00000119913.6	transcript	ENST00000646139.2	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
TEC_chr4_48130783_48274838	48185806	ATCTCCCT others(24): Show ATCTCCCTCCCCCTCCCCCTCTCCCATCTCCC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0186 a0001c0001t0008g0186	1	346	0.0029	-31	c.139 others(48): Show c.139-9651_139-9621delGGGAGATGGGAGAGGGGGAGGGGGAGGG AGA		TEC	ENSG00000135605.13	transcript	ENST00000381501.8	protein_coding	2/17						chr4	TogoVar
TENM1_chrX_124370903_125209312	125010713	CTGAGGCA others(24): Show CTGAGGCAGGAGAATGGCATGAACCTGGGAGG	C C	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0040 a0001c0003t0002g0040	1	140	0.0071	-31	c.-64 others(50): Show c.-64-46927_-64-46897delCCTCCCAGGTTCATGCCATTCTCCTG CCTCA		TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding	3/34						chrX	TogoVar
TENM2_chr5_166974029_168269157	167350726	TACATATG others(24): Show TACATATGGATATATATATATGGGATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01192.hp1 others(1): Show HG01081.hp1 HG01081.hp2 HG01192.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0002t0031 a0001c0003t0001 a0001c0004t0007 others(1): Show a0001c0002t0031 a0001c0003t0001 a0001c0004t0007 a0001c0007t0010	a0001c0002t0031g0036 a0001c0003t0001g0040 a0001c0004t0007g0054 others(1): Show a0001c0002t0031g0036 a0001c0003t0001g0040 a0001c0004t0007g0054 a0001c0007t0010g0037	4	54	0.0741	-31	c.227 others(50): Show c.227-24470_227-24440delCATATGGATATATATATATGGGATAT ATACA		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	3/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167974045	GGAAGGGA others(24): Show GGAAGGGAGGAAAGGAGGGAGGGAGGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0023 a0001c0018t0003g0023	1	54	0.0185	-31	c.948 others(50): Show c.948-18897_948-18867delAAGGGAGGAAAGGAGGGAGGGAGGGA GGAAG		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167974151	GGAAGGGA others(24): Show GGAAGGGAGGAAAGGAGGGAGGGAGGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	54	0.0185	-31	c.948 others(50): Show c.948-18791_948-18761delAAGGGAGGAAAGGAGGGAGGGAGGGA GGAAG		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	168236969	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0016	a0001c0005t0016g0012 a0001c0005t0016g0012	1	54	0.0185	-31	c.552 others(50): Show c.5521-7450_5521-7420delATATATATATATATATATATATATAT ATATA		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	27/30						chr5	TogoVar
TENT4B_chr16_50148306_50240310	50205558	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02486.hp2 others(1): Show HG01891.hp2 HG02280.hp2 HG02486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0047 a0001c0001t0051 a0001c0001t0022 a0001c0001t0047 a0001c0001t0051	a0001c0001t0022g0014 a0001c0001t0022g0015 a0001c0001t0047g0078 others(1): Show a0001c0001t0022g0014 a0001c0001t0022g0015 a0001c0001t0047g0078 a0001c0001t0051g0012	4	312	0.0128	-31	c.639 others(48): Show c.639-5745_639-5715delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		TENT4B	ENSG00000121274.14	transcript	ENST00000561678.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr16	TogoVar
TERB2_chr15_44951687_44984229	44983931	ATAAAACG others(24): Show ATAAAACGAAGGCTTCCATAATACACATTCAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	346	0.0029	-31	c.53 others(42): Show c.5304_*5334delTAAAACGAAGGCTTCCATAATACACATTCAT		TERB2	ENSG00000167014.11	transcript	ENST00000340827.4	protein_coding					4703		chr15	TogoVar
TERF2_chr16_69350567_69391007	69374627	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0167 a0001c0001t0003g0167	1	340	0.0029	-31	c.607 others(48): Show c.607-2303_607-2273delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		TERF2	ENSG00000132604.11	transcript	ENST00000254942.8	protein_coding	3/9						chr16	TogoVar
TERT_chr5_1248167_1300068	1252388	CAGATGAG others(24): Show CAGATGAGACTGGGAGATGATAAGAGGATGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18940.hp2 NA18966.hp2 NA18939.hp2 NA18940.hp2 NA18966.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0285 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0285 a0001c0003t0001g0292 a0001c0003t0001g0293	3	392	0.0077	-31	c.13 others(42): Show c.1309_*1339delCTCATCCTCTTATCATCTCCCAGTCTCATCT		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding					778		chr5	TogoVar
TEX11_chrX_70523940_70913711	70906085	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	229	0.0044	-31	c.37+ others(46): Show c.37+1637_37+1667delATATATATATATATATATATATATATTTTT T		TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	2/29						chrX	TogoVar
TEX14_chr17_58551678_58697045	58659067	CAAACGCG others(24): Show CAAACGCGCGCCACTACAACAACTCTGAAAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp1 others(82): Show HG00099.hp1 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp2 HG01884.hp1 HG01952.hp1 HG02071.hp1 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18951.hp2 NA18954.hp1 NA18959.hp1 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18980.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA20905.hp1 NA21309.hp2	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0008 a0010	a0001c0002 a0001c0010 a0004c0009 others(3): Show a0001c0002 a0001c0010 a0004c0009 a0006c0022 a0008c0021 a0010c0020	a0001c0002t0001 a0001c0010t0001 a0004c0009t0001 others(3): Show a0001c0002t0001 a0001c0010t0001 a0004c0009t0001 a0006c0022t0001 a0008c0021t0001 a0010c0020t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0007 others(82): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0116 a0001c0002t0001g0132 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0217 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0010t0001g0174 a0001c0010t0001g0178 a0004c0009t0001g0136 a0004c0009t0001g0165 a0006c0022t0001g0173 a0008c0021t0001g0312 a0010c0020t0001g0150	85	324	0.2624	-31	c.-1- others(46): Show c.-1-7096_-1-7066delATTTTCAGAGTTGTTGTAGTGGCGCGCGTT T		TEX14	ENSG00000121101.16	transcript	ENST00000349033.10	protein_coding	1/31						chr17	TogoVar
TEX19_chr17_82354247_82368775	82358801	GTGTTAAT others(24): Show GTGTTAATTTATAAGCGTCTTGTTTAAAGAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	-31	c.-75 others(40): Show c.-755_-725delTGTTAATTTATAAGCGTCTTGTTTAAAGAGC		TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding					445		chr17	TogoVar
TEX19_chr17_82354247_82368775	82360198	CAGGTTCC others(24): Show CAGGTTCCCCCAGTTTCCCCCAGTTTCCCTCA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02895.hp1 HG02055.hp2 HG02559.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0055 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0055	3	380	0.0079	-31	c.-27 others(48): Show c.-272+916_-272+946delGTTCCCCCAGTTTCCCCCAGTTTCCCTC AAG		TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr17	TogoVar
TFDP1_chr13_113579753_113646473	113610456	CTGTGCCA others(24): Show CTGTGCCATCACGTGTGCCCCCGCTGTGTGGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG03486.hp2 HG02145.hp1 HG02559.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0037 a0001c0001t0001g0009 a0001c0001t0001g0037	3	348	0.0086	-31	c.13- others(44): Show c.13-498_13-468delCGTGTGCCCCCGCTGTGTGGTTGTGCCATCA		TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr13	TogoVar
TGM1_chr14_24244114_24268177	24261766	GGCTGCCC others(24): Show GGCTGCCCGCGGCGCACTATCAGCTCGTCGTA	G G	frameshift_variant frameshift_variant	HIGH	NA19079.hp2 NA19079.hp2	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0001 a0017c0017t0001	a0017c0017t0001g0063 a0017c0017t0001g0063	1	420	0.0024	-31	c.406 others(38): Show c.406_436delTACGACGAGCTGATAGTGCGCCGCGGGCAGC	p.Tyr others(5): Show p.Tyr136fs	TGM1	ENSG00000092295.12	transcript	ENST00000206765.11	protein_coding	3/15	527/2744	406/2454	136/817			chr14	TogoVar
TGM5_chr15_43227590_43271928	43261060	CTTTTTTT others(24): Show CTTTTTTTGTGTGTGTGTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0143 a0002c0007t0001g0143	1	334	0.0030	-31	c.11- others(44): Show c.11-512_11-482delAAAAAAAAAAAAAAACACACACACAAAAAAA		TGM5	ENSG00000104055.17	transcript	ENST00000220420.10	protein_coding	1/12						chr15	TogoVar
TG_chr8_132861958_133139899	133067886	GTATGTAT others(24): Show GTATGTATGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00642.hp1 others(25): Show HG00099.hp1 HG00140.hp2 HG00642.hp1 HG01106.hp1 HG01168.hp1 HG01243.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02602.hp2 HG02717.hp2 HG02723.hp2 HG03017.hp2 HG03195.hp2 HG03490.hp2 HG03516.hp2 HG04199.hp1 NA19030.hp1 NA19043.hp2 NA20805.hp2	a0011 a0012 a0014 others(17): Show a0011 a0012 a0014 a0015 a0017 a0025 a0032 a0033 a0038 a0046 a0085 a0094 a0108 a0113 a0116 a0118 a0123 a0124 a0125 a0129	a0011c0011 a0012c0067 a0014c0023 others(19): Show a0011c0011 a0012c0067 a0014c0023 a0014c0091 a0015c0024 a0017c0025 a0017c0099 a0025c0022 a0032c0027 a0033c0026 a0038c0134 a0046c0039 a0085c0035 a0094c0078 a0108c0106 a0113c0111 a0116c0118 a0118c0100 a0123c0128 a0124c0129 a0125c0095 a0129c0144	a0011c0011t0001 a0012c0067t0001 a0014c0023t0001 others(19): Show a0011c0011t0001 a0012c0067t0001 a0014c0023t0001 a0014c0091t0001 a0015c0024t0001 a0017c0025t0001 a0017c0099t0001 a0025c0022t0001 a0032c0027t0001 a0033c0026t0001 a0038c0134t0001 a0046c0039t0001 a0085c0035t0001 a0094c0078t0001 a0108c0106t0001 a0113c0111t0001 a0116c0118t0001 a0118c0100t0001 a0123c0128t0001 a0124c0129t0001 a0125c0095t0001 a0129c0144t0001	a0011c0011t0001g0093 a0011c0011t0001g0141 a0011c0011t0001g0158 others(25): Show a0011c0011t0001g0093 a0011c0011t0001g0141 a0011c0011t0001g0158 a0012c0067t0001g0107 a0014c0023t0001g0142 a0014c0023t0001g0143 a0014c0091t0001g0171 a0015c0024t0001g0046 a0017c0025t0001g0020 a0017c0025t0001g0021 a0017c0099t0001g0065 a0025c0022t0001g0160 a0025c0022t0001g0162 a0032c0027t0001g0056 a0032c0027t0001g0200 a0033c0026t0001g0195 a0038c0134t0001g0012 a0046c0039t0001g0090 a0085c0035t0001g0126 a0094c0078t0001g0181 a0108c0106t0001g0025 a0113c0111t0001g0054 a0116c0118t0001g0196 a0118c0100t0001g0031 a0123c0128t0001g0113 a0124c0129t0001g0038 a0125c0095t0001g0055 a0129c0144t0001g0170	28	216	0.1296	-31	c.724 others(52): Show c.7240-27157_7240-27127delTATGTATGGAAGGAAGGAAGGAAG GAAGGAA		TG	ENSG00000042832.12	transcript	ENST00000220616.9	protein_coding	41/47						chr8	TogoVar
THPO_chr3_184366935_184383207	184380188	GCCCCGGC others(24): Show GCCCCGGCCCCGGCCCCCTCCCGCCGCACCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	436	0.0023	-31	c.-22 others(42): Show c.-2290_-2260delGCGGTGCGGCGGGAGGGGGCCGGGGCCGGGG		THPO	ENSG00000090534.20	transcript	ENST00000647395.1	protein_coding					1982		chr3	TogoVar
THRB_chr3_24112153_24499850	24375376	TATAATAT others(24): Show TATAATATTAATATATTATAGTTAGACATATA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0136 a0001c0001t0040g0136	1	178	0.0056	-31	c.-26 others(52): Show c.-260-38036_-260-38006delTATATGTCTAACTATAATATATTA ATATTAT		THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	1/10						chr3	TogoVar
THSD7B_chr2_136760545_137682718	137546433	TATTATAT others(24): Show TATTATATATATTATATATATATTATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0006 a0003c0002t0006	a0003c0002t0006g0066 a0003c0002t0006g0066	1	98	0.0102	-31	c.313 others(52): Show c.3139-16787_3139-16757delATTATATATATTATATATATATTA TATATAA		THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	15/27						chr2	TogoVar
TIAM1_chr21_31113418_31349261	31181756	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG02886.hp2 others(3): Show HG02055.hp1 HG02622.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0008 a0003c0010 others(1): Show a0001c0006 a0003c0008 a0003c0010 a0003c0014	a0001c0006t0001 a0003c0008t0006 a0003c0008t0017 others(3): Show a0001c0006t0001 a0003c0008t0006 a0003c0008t0017 a0003c0010t0002 a0003c0010t0006 a0003c0014t0001	a0001c0006t0001g0053 a0003c0008t0006g0136 a0003c0008t0017g0137 others(3): Show a0001c0006t0001g0053 a0003c0008t0006g0136 a0003c0008t0017g0137 a0003c0010t0002g0204 a0003c0010t0006g0079 a0003c0014t0001g0146	6	212	0.0283	-31	c.288 others(48): Show c.2887+634_2887+664delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	15/27						chr21	TogoVar
TIAM1_chr21_31113418_31349261	31222693	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG01175.hp2 others(9): Show HG00639.hp1 HG01106.hp2 HG01175.hp2 HG01952.hp1 HG02257.hp2 HG02280.hp2 HG02559.hp1 HG02647.hp1 HG02717.hp2 HG02886.hp1 HG03195.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012	a0001c0001t0002g0132 a0001c0001t0002g0162 a0001c0001t0002g0170 others(9): Show a0001c0001t0002g0132 a0001c0001t0002g0162 a0001c0001t0002g0170 a0001c0001t0009g0133 a0001c0002t0001g0104 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0138 a0001c0002t0004g0092 a0001c0002t0004g0167 a0001c0002t0005g0051 a0001c0002t0012g0130	12	212	0.0566	-31	c.199 others(48): Show c.1995+682_1995+712delAAAAAAAAAAAAAAAAATATATATATAT ATA		TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	8/27						chr21	TogoVar
TIAM2_chr6_154990315_155262723	155172653	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0181 a0001c0002t0022g0181	1	230	0.0044	-31	c.236 others(50): Show c.2362-4162_2362-4132delATATATATATATATATATATATATAT ATATA		TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	9/26						chr6	TogoVar
TIAM2_chr6_154990315_155262723	155172655	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0009c0019 a0001c0002 a0009c0019	a0001c0002t0005 a0009c0019t0001 a0001c0002t0005 a0009c0019t0001	a0001c0002t0005g0223 a0009c0019t0001g0073 a0009c0019t0001g0074 a0001c0002t0005g0223 a0009c0019t0001g0073 a0009c0019t0001g0074	3	230	0.0130	-31	c.236 others(50): Show c.2362-4160_2362-4130delATATATATATATATATATATATATAT ATATA		TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	9/26						chr6	TogoVar
TIMM50_chr19_39475838_39498779	39484723	TAAAGTGG others(24): Show TAAAGTGGGCAGATCTGGAAGCCTAGTGATTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0048 a0001c0001t0009g0048	1	434	0.0023	-31	c.314 others(46): Show c.314-810_314-780delGATCTGGAAGCCTAGTGATTCAAAGTGGGC A		TIMM50	ENSG00000105197.11	transcript	ENST00000607714.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
TIMMDC1_chr3_119493547_119530090	119498455	CCCAACCC others(24): Show CCCAACCCGCCCTCAACCGGAAGTCTTTTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	428	0.0023	-31	c.-27 others(40): Show c.-278_-248delCCAACCCGCCCTCAACCGGAAGTCTTTTGGG		TIMMDC1	ENSG00000113845.10	transcript	ENST00000494664.6	protein_coding					91		chr3	TogoVar
TIMP3_chr22_32796705_32868041	32857450	ACCAAATG others(24): Show ACCAAATGTCCAGTAAATTGTAAGGAGTCTCT	A A	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	368	0.0027	-31	c.316 others(45): Show c.316+91_316+121delCCAAATGTCCAGTAAATTGTAAGGAGTCTCT		TIMP3	ENSG00000100234.12	transcript	ENST00000266085.7	protein_coding	3/4						chr22	TogoVar
TLCD4_chr1_95112355_95202607	95130186	CTCTGTTG others(24): Show CTCTGTTGCCAGGCTGGAGTTCAGTGGTGCGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00609.hp2 others(73): Show HG00280.hp1 HG00408.hp2 HG00609.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04184.hp2 HG04228.hp2 NA18940.hp1 NA18941.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18966.hp1 NA18980.hp2 NA18990.hp1 NA19002.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19075.hp2 NA19081.hp1 NA20300.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0021 a0001c0001t0022 a0001c0001t0031 a0001c0001t0039 a0001c0001t0040	a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0051 others(69): Show a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0078 a0001c0001t0001g0159 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0034 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0097 a0001c0001t0002g0123 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0180 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0002g0249 a0001c0001t0002g0260 a0001c0001t0002g0298 a0001c0001t0003g0046 a0001c0001t0004g0073 a0001c0001t0010g0096 a0001c0001t0010g0098 a0001c0001t0010g0099 a0001c0001t0010g0100 a0001c0001t0012g0025 a0001c0001t0012g0026 a0001c0001t0012g0028 a0001c0001t0013g0053 a0001c0001t0021g0007 a0001c0001t0022g0005 a0001c0001t0031g0212 a0001c0001t0039g0033 a0001c0001t0040g0027	76	378	0.2011	-31	c.-12 others(50): Show c.-12+12573_-12+12603delGTTGCCAGGCTGGAGTTCAGTGGTGC GATCT		TLCD4	ENSG00000152078.10	transcript	ENST00000370203.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
TLE4_chr9_79566965_79731882	79689048	TTATTAGC others(24): Show TTATTAGCTTGACCCACTACTCCATTTTCCTA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03098.hp2 HG01167.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0069 a0001c0001t0008g0070	2	258	0.0078	-31	c.610 others(50): Show c.610-15731_610-15701delTAGCTTGACCCACTACTCCATTTTCC TATAT		TLE4	ENSG00000106829.21	transcript	ENST00000376552.8	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
TLE5_chr19_3047910_3067495	3051700	AATTATAT others(24): Show AATTATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	410	0.0024	-31	c.20 others(42): Show c.2088_*2118delATATATATATATATATATATATATATATAAT		TLE5	ENSG00000104964.15	transcript	ENST00000327141.9	protein_coding					1209		chr19	TogoVar
TLE5_chr19_3047910_3067495	3051703	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00642.hp2 others(9): Show HG00140.hp2 HG00423.hp2 HG00642.hp2 HG00733.hp2 HG02135.hp1 HG03669.hp1 HG03688.hp2 NA18943.hp1 NA18956.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0118 a0001c0001t0002g0001 a0001c0001t0002g0003 others(8): Show a0001c0001t0001g0118 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0003g0011 a0001c0001t0003g0017 a0001c0001t0003g0183 a0001c0001t0004g0046 a0001c0001t0004g0200 a0001c0001t0004g0228 a0001c0001t0004g0260 a0001c0001t0005g0121	12	410	0.0293	-31	c.20 others(42): Show c.2085_*2115delTATATATATATATATATATATATATATATAT		TLE5	ENSG00000104964.15	transcript	ENST00000327141.9	protein_coding					1206		chr19	TogoVar
TLE5_chr19_3047910_3067495	3051730	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	410	0.0024	-31	c.20 others(42): Show c.2058_*2088delATATATATATATATATATATATATATATATA		TLE5	ENSG00000104964.15	transcript	ENST00000327141.9	protein_coding					1179		chr19	TogoVar
TLK1_chr2_170985823_171165893	171143506	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0208 a0001c0001t0040g0208	1	266	0.0038	-31	c.139 others(50): Show c.139+16753_139+16783delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding	1/20						chr2	TogoVar
TLR6_chr4_38817897_38861817	38858814	GGAGAGAG others(24): Show GGAGAGAGAGAGAGAGAGGAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	408	0.0025	-31	c.-21 others(42): Show c.-2149_-2119delTTCTTTCTTTCTTCCTCTCTCTCTCTCTCTC		TLR6	ENSG00000174130.13	transcript	ENST00000508254.6	protein_coding					1998		chr4	TogoVar
TMC6_chr17_78102397_78133755	78114280	TGACACTC others(24): Show TGACACTCCGGCCTCTGTTTTTCACCTCTAAG	T T	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0353 a0003c0003t0001g0353	1	444	0.0023	-31	c.227 others(48): Show c.2278-687_2278-657delCTTAGAGGTGAAAAACAGAGGCCGGAGT GTC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMCO1_chr1_165721795_165773868	165772087	CCCGGGTT others(24): Show CCCGGGTTCAAGCGATTCTCCTGCCTTAGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	374	0.0027	-31	c.-33 others(42): Show c.-3367_-3337delAGGCTAAGGCAGGAGAATCGCTTGAACCCGG		TMCO1	ENSG00000143183.18	transcript	ENST00000367881.11	protein_coding					3220		chr1	TogoVar
TMED10_chr14_75126469_75181612	75164551	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0232 a0001c0001t0010g0232	1	262	0.0038	-31	c.225 others(50): Show c.225+11773_225+11803delAAAAATATATATATATATATATATAT ATATA		TMED10	ENSG00000170348.9	transcript	ENST00000303575.9	protein_coding	1/4						chr14	TogoVar
TMED8_chr14_77330029_77382094	77372932	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0059 a0002c0002t0008g0059	1	328	0.0031	-31	c.118 others(48): Show c.118+3973_118+4003delAAAAAAAAAAATATATATATATATATAT ATA		TMED8	ENSG00000100580.8	transcript	ENST00000216468.8	protein_coding	1/5						chr14	TogoVar
TMEFF2_chr2_191944046_192199933	192037612	GAGAAAGA others(24): Show GAGAAAGAGAGAGAGGAGAGAAAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02723.hp1 HG01516.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0099 a0001c0001t0001g0035 a0001c0001t0001g0099	2	164	0.0122	-31	c.536 others(50): Show c.536+20036_536+20066delTTCTCTCTCTTTCTCTCCTCTCTCTC TTTCT		TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	5/9						chr2	TogoVar
TMEM106C_chr12_47958596_47973878	47971711	TATAATAT others(24): Show TATAATATATGTATATATTATTATATTGTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02647.hp1 HG02723.hp2 others(5): Show HG01884.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02965.hp2 HG03139.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0003g0006 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0003g0006 a0001c0001t0007g0006	8	422	0.0190	-31	c.34 others(42): Show c.3483_*3513delATAATATATGTATATATTATTATATTGTATA		TMEM106C	ENSG00000134291.12	transcript	ENST00000429772.7	protein_coding					2834		chr12	TogoVar
TMEM123_chr11_102391332_102457765	102396965	TTTAAAAG others(24): Show TTTAAAAGGCCTTCATTAGAATAAAGTATATC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 HG03209.hp1 HG03471.hp1 others(2): Show HG02970.hp1 HG03209.hp1 HG03471.hp1 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0024 a0001c0004t0008 a0001c0004t0024	a0001c0004t0008g0012 a0001c0004t0008g0013 a0001c0004t0008g0014 others(2): Show a0001c0004t0008g0012 a0001c0004t0008g0013 a0001c0004t0008g0014 a0001c0004t0008g0015 a0001c0004t0024g0177	5	204	0.0245	-31	c.18 others(42): Show c.1871_*1901delGATATACTTTATTCTAATGAAGGCCTTTTAA		TMEM123	ENSG00000152558.15	transcript	ENST00000398136.7	protein_coding	5/5				1871		chr11	TogoVar
TMEM131_chr2_97751336_98000948	97943022	AAAAGAAA others(24): Show AAAAGAAAAGAAAAGAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18612.hp2 NA18993.hp1 others(3): Show HG00597.hp1 NA18612.hp2 NA18993.hp1 NA19058.hp1 NA19070.hp2 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0007 a0003c0004t0002 a0001c0001t0007 a0003c0004t0002	a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0007g0022 others(3): Show a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0007g0022 a0003c0004t0002g0111 a0003c0004t0002g0115 a0003c0004t0002g0117	6	284	0.0211	-31	c.188 others(50): Show c.188-15566_188-15536delCTTTCTTTCTTTCTTTTCTTTTCTTT TCTTT		TMEM131	ENSG00000075568.17	transcript	ENST00000186436.10	protein_coding	1/40						chr2	TogoVar
TMEM132C_chr12_128262170_128712911	128456366	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01884.hp1 HG02109.hp1 others(13): Show HG01192.hp1 HG01884.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02615.hp1 HG02809.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03486.hp1 HG03540.hp1 NA19043.hp1	a0002 a0003 a0005 others(7): Show a0002 a0003 a0005 a0006 a0007 a0010 a0014 a0016 a0019 a0030	a0002c0018 a0002c0042 a0002c0046 others(13): Show a0002c0018 a0002c0042 a0002c0046 a0003c0010 a0003c0070 a0005c0034 a0005c0035 a0006c0025 a0006c0056 a0007c0080 a0010c0027 a0014c0067 a0014c0068 a0016c0065 a0019c0031 a0030c0076	a0002c0018t0002 a0002c0042t0009 a0002c0046t0002 others(13): Show a0002c0018t0002 a0002c0042t0009 a0002c0046t0002 a0003c0010t0003 a0003c0070t0002 a0005c0034t0002 a0005c0035t0003 a0006c0025t0005 a0006c0056t0003 a0007c0080t0002 a0010c0027t0001 a0014c0067t0005 a0014c0068t0003 a0016c0065t0014 a0019c0031t0001 a0030c0076t0002	a0002c0018t0002g0136 a0002c0042t0009g0004 a0002c0046t0002g0095 others(13): Show a0002c0018t0002g0136 a0002c0042t0009g0004 a0002c0046t0002g0095 a0003c0010t0003g0164 a0003c0070t0002g0083 a0005c0034t0002g0084 a0005c0035t0003g0017 a0006c0025t0005g0075 a0006c0056t0003g0156 a0007c0080t0002g0155 a0010c0027t0001g0148 a0014c0067t0005g0158 a0014c0068t0003g0085 a0016c0065t0014g0088 a0019c0031t0001g0040 a0030c0076t0002g0020	16	170	0.0941	-31	c.974 others(50): Show c.974+40775_974+40805delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr12	TogoVar

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