Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TDRD9_chr14_103923456_104057667	103968795	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0125 a0001c0003t0001g0125	1	10	0.1000	48	c.766 others(65): Show c.766-1737_766-1736insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	TDRD9	ENSG00000156414.20	transcript	ENST00000409874.9	protein_coding	5/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
TEAD1_chr11_12669421_12949737	12821961	C C	CTTTTTTT others(41): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	11	0.0909	48	c.203 others(67): Show c.203-40269_203-40268insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	TEAD1	ENSG00000187079.20	transcript	ENST00000527636.7	protein_coding	3/12		WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME	chr11	TogoVar
TEC_chr4_48130783_48274838	48160859	G G	GAGGAAGG others(41): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00544.hp2 others(54): Show HG00140.hp1 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG00741.hp2 HG01099.hp2 HG01167.hp2 HG01255.hp1 HG01256.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp2 HG02056.hp1 HG02155.hp1 HG02155.hp2 HG02523.hp1 HG02922.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04199.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18950.hp2 NA18951.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19065.hp1 NA19079.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0009 a0001c0001 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0001t0022 a0001c0006t0001 a0001c0009t0001	a0001c0001t0001g0026 a0001c0001t0001g0055 a0001c0001t0001g0069 others(54): Show a0001c0001t0001g0026 a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0196 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0234 a0001c0001t0001g0245 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0300 a0001c0001t0007g0243 a0001c0001t0009g0338 a0001c0001t0009g0341 a0001c0001t0010g0257 a0001c0001t0010g0261 a0001c0001t0010g0299 a0001c0001t0014g0003 a0001c0001t0019g0058 a0001c0001t0022g0122 a0001c0006t0001g0077 a0001c0006t0001g0098 a0001c0009t0001g0082	57	230	0.2478	48	c.737 others(65): Show c.737+2842_737+2843insTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCT	TEC	ENSG00000135605.13	transcript	ENST00000381501.8	protein_coding	8/17			chr4	TogoVar
TEKT1_chr17_6792993_6836729	6793085	A A	AAGAAAGA others(41): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0056 a0001c0002t0009g0056	1	358	0.0028	48	c.69 others(59): Show c.6941_*6942insCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding		4907		chr17	TogoVar
TEKT1_chr17_6792993_6836729	6793087	G G	GAAAGAAA others(41): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0213 a0001c0002t0002g0213	1	249	0.0040	48	c.69 others(59): Show c.6939_*6940insTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding		4905		chr17	TogoVar
TEKT1_chr17_6792993_6836729	6793087	G G	GAAAGAAA others(41): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAGAGAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0020 a0001c0002t0009g0020	1	249	0.0040	48	c.69 others(59): Show c.6939_*6940insTTCTCTCTCTCTTTCTTTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding		4905		chr17	TogoVar
TEKT5_chr16_10622501_10699930	10624118	A A	AAAGGAAG others(41): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01255.hp1 NA18940.hp1 others(4): Show HG00423.hp2 HG01255.hp1 NA18940.hp1 NA18945.hp1 NA18966.hp2 NA18981.hp2 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(4): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0090 a0001c0003t0001g0165 a0001c0003t0001g0179 a0002c0002t0001g0284	7	249	0.0281	48	c.34 others(59): Show c.3464_*3465insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTT	TEKT5	ENSG00000153060.8	transcript	ENST00000283025.7	protein_coding		3382		chr16	TogoVar
TENM1_chrX_124370903_125209312	124974888	C C	CTATATAT others(41): Show CTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	112	0.0089	48	c.-64 others(67): Show c.-64-11072_-64-11071insTATATATATATATATATATATATATA TATATATATATATATATATATA	TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding	3/34			chrX	TogoVar
TENM2_chr5_166974029_168269157	167258203	A A	ATATATAT others(41): Show ATATATATATGTATATATATATGTGTATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0041 a0001c0002t0013g0041	1	54	0.0185	48	c.-74 others(67): Show c.-74-26552_-74-26551insGTATATATATATGTGTATATATATAT ATATATATATGTGTATATATAT	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167431963	A A	ATATATAT others(41): Show ATATATATATATACATATATATATACATATATATGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	54	0.0185	48	c.502 others(67): Show c.502+56502_502+56503insCATATATATATACATATATATGTATA TATATATGTGTATATATATATA	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167515669	G G	GTATATAT others(41): Show GTATATATATACATATATATGTATATATATACACATATATACGTATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03098.hp2 HG03195.hp2 others(1): Show HG02602.hp2 HG03098.hp2 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0017 a0001c0001 a0001c0008 a0001c0017	a0001c0001t0001 a0001c0001t0007 a0001c0008t0002 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0008t0002 a0001c0017t0002	a0001c0001t0001g0049 a0001c0001t0007g0001 a0001c0008t0002g0035 others(1): Show a0001c0001t0001g0049 a0001c0001t0007g0001 a0001c0008t0002g0035 a0001c0017t0002g0053	4	37	0.1081	48	c.502 others(69): Show c.502+140197_502+140198insATATATATACATATATATGTATAT ATATACACATATATACGTATATAT	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TESC_chr12_117033923_117104416	117075937	A A	ATATATAT others(41): Show ATATATATATATATGTGTGTGTGTATATATACATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	261	0.0038	48	c.59- others(61): Show c.59-598_59-597insCATATATATATATATATGTATATATACACACA CACATATATATATATA	TESC	ENSG00000088992.18	transcript	ENST00000335209.12	protein_coding	1/7			chr12	TogoVar
TEX11_chrX_70523940_70913711	70577753	C C	CAGTCTCT others(41): Show CAGTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03579.hp1 HG01358.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0210 a0001c0001t0001g0002 a0001c0001t0001g0210	2	216	0.0093	48	c.214 others(69): Show c.2140+13997_2140+13998insCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGAGACT	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	25/29			chrX	TogoVar
TEX15_chr8_30826544_30918008	30907443	C C	CAATGTAT others(41): Show CAATGTATATATAAATTATATACAAAATGTATATATAAATTATATACAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp1 HG01099.hp2 others(38): Show HG00733.hp2 HG00738.hp1 HG01099.hp2 HG01123.hp1 HG01243.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG02109.hp1 HG02145.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03491.hp1 HG03516.hp1 HG06807.hp1 NA18522.hp1 NA18961.hp1 NA19064.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp2	a0003 a0008 a0014 others(3): Show a0003 a0008 a0014 a0022 a0029 a0033	a0003c0003 a0003c0009 a0003c0010 others(5): Show a0003c0003 a0003c0009 a0003c0010 a0008c0008 a0014c0018 a0022c0025 a0029c0027 a0033c0046	a0003c0003t0001 a0003c0003t0003 a0003c0003t0008 others(8): Show a0003c0003t0001 a0003c0003t0003 a0003c0003t0008 a0003c0003t0012 a0003c0009t0003 a0003c0010t0001 a0008c0008t0001 a0014c0018t0001 a0022c0025t0001 a0029c0027t0001 a0033c0046t0001	a0003c0003t0001g0173 a0003c0003t0001g0177 a0003c0003t0001g0178 others(37): Show a0003c0003t0001g0173 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0003g0175 a0003c0003t0003g0184 a0003c0003t0003g0185 a0003c0003t0003g0186 a0003c0003t0003g0187 a0003c0003t0003g0192 a0003c0003t0003g0198 a0003c0003t0003g0199 a0003c0003t0003g0200 a0003c0003t0003g0204 a0003c0003t0003g0206 a0003c0003t0008g0290 a0003c0003t0008g0291 a0003c0003t0008g0292 a0003c0003t0012g0202 a0003c0009t0003g0001 a0003c0009t0003g0191 a0003c0009t0003g0203 a0003c0009t0003g0205 a0003c0010t0001g0169 a0003c0010t0001g0170 a0003c0010t0001g0171 a0003c0010t0001g0174 a0008c0008t0001g0188 a0008c0008t0001g0189 a0008c0008t0001g0190 a0008c0008t0001g0197 a0014c0018t0001g0194 a0014c0018t0001g0196 a0022c0025t0001g0176 a0029c0027t0001g0172 a0033c0046t0001g0195	41	262	0.1565	48	c.-86 others(65): Show c.-86+5435_-86+5436insTTGTATATAATTTATATATACATTTTGT ATATAATTTATATATACATT	TEX15	ENSG00000133863.9	transcript	ENST00000643185.2	protein_coding	1/10			chr8	TogoVar
TEX15_chr8_30826544_30918008	30907443	C C	CAATGTAT others(41): Show CAATGTATATATAAATTATATACAAAATGTATATATAAATTATATATAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp2 HG01168.hp2 others(24): Show HG00738.hp2 HG01081.hp2 HG01168.hp2 HG01257.hp1 HG01258.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02129.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02818.hp2 NA18961.hp2 NA18963.hp1 NA18970.hp2 NA19060.hp1 NA19072.hp2 NA19084.hp2 NA21309.hp2	a0003 a0005 a0010 others(2): Show a0003 a0005 a0010 a0027 a0030	a0003c0019 a0005c0005 a0010c0011 others(2): Show a0003c0019 a0005c0005 a0010c0011 a0027c0047 a0030c0048	a0003c0019t0001 a0005c0005t0001 a0005c0005t0005 others(5): Show a0003c0019t0001 a0005c0005t0001 a0005c0005t0005 a0005c0005t0010 a0005c0005t0011 a0010c0011t0005 a0027c0047t0001 a0030c0048t0001	a0003c0019t0001g0216 a0003c0019t0001g0218 a0005c0005t0001g0002 others(23): Show a0003c0019t0001g0216 a0003c0019t0001g0218 a0005c0005t0001g0002 a0005c0005t0001g0212 a0005c0005t0001g0213 a0005c0005t0001g0221 a0005c0005t0001g0223 a0005c0005t0001g0226 a0005c0005t0001g0228 a0005c0005t0001g0229 a0005c0005t0001g0230 a0005c0005t0001g0231 a0005c0005t0001g0232 a0005c0005t0001g0233 a0005c0005t0005g0214 a0005c0005t0005g0217 a0005c0005t0005g0219 a0005c0005t0005g0222 a0005c0005t0010g0003 a0005c0005t0011g0220 a0010c0011t0005g0211 a0010c0011t0005g0215 a0010c0011t0005g0224 a0010c0011t0005g0225 a0027c0047t0001g0152 a0030c0048t0001g0227	27	248	0.1089	48	c.-86 others(65): Show c.-86+5388_-86+5435dupTTATATATAATTTATATATACATTTTGT ATATAATTTATATATACATT	TEX15	ENSG00000133863.9	transcript	ENST00000643185.2	protein_coding	1/10			chr8	TogoVar
TEX45_chr19_7492548_7513450	7495050	T T	TTCCTTCC others(41): Show TTCCTTCCCTCCTTCTCTCCCTCCCTCCTTCCCTCCTTCTCTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	48	c.-26 others(59): Show c.-2650_-2649insTCCTTCCCTCCTTCTCTCCCTCCCTCCTTCCCTC CTTCTCTCCCTCCC	TEX45	ENSG00000198723.11	transcript	ENST00000361664.7	protein_coding		2497		chr19	TogoVar
TFB1M_chr6_155251134_155319484	155305492	A A	AATATATA others(41): Show AATATATATTAAATTATATATTTATATATATATTAAATTATATATTTAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02258.hp2 HG02559.hp2 others(2): Show HG01496.hp2 HG02258.hp2 HG02559.hp2 HG02922.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0008 a0001c0002t0005g0237 a0001c0002t0005g0245 a0001c0002t0005g0008 a0001c0002t0005g0237 a0001c0002t0005g0245	5	250	0.0200	48	c.285 others(65): Show c.285+5648_285+5695dupATAAATATATAATTTAATATATATATAA ATATATAATTTAATATATAT	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFB1M_chr6_155251134_155319484	155305548	A A	AATATATA others(41): Show AATATATATTAAATTATATATTTATATATATATTAAATTATATATTTAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03041.hp1 NA18522.hp1 HG02451.hp2 HG03041.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0043 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0043	3	292	0.0103	48	c.285 others(65): Show c.285+5592_285+5639dupATAAATATATAATTTAATATATATATAA ATATATAATTTAATATATAT	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFEB_chr6_41678978_41740608	41738178	A A	ACATATAT others(41): Show ACATATATATATGCATATATATATGCATATATATATGCATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	246	0.0041	48	c.-28 others(59): Show c.-2899_-2852dupCATATATATATGCATATATATATGCATATATATA TGCATATATATATG	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2571		chr6	TogoVar
TFEB_chr6_41678978_41740608	41738190	G G	GCATATAT others(41): Show GCATATATATATGCATATATATATGCATATATATATGCATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	290	0.0034	48	c.-28 others(59): Show c.-2864_-2863insTATATATATATGCATATATATATGCATATATATA TGCATATATATATG	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2583		chr6	TogoVar
TFEB_chr6_41678978_41740608	41738239	T T	TATATATA others(41): Show TATATATATGCATATATATATGCATATATATATATACATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	116	0.0086	48	c.-29 others(59): Show c.-2913_-2912insGTGTATATATATGTATATATATATATGCATATAT ATATGCATATATAT	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2632		chr6	TogoVar
TFPI2_chr7_93880396_93895753	93888587	A A	AGGAAGGA others(41): Show AGGAAGGAAGGAAGGAAGGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA19078.hp1 NA18991.hp2 NA19078.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0038 a0001c0002t0003g0038	2	181	0.0110	48	c.460 others(63): Show c.460+447_460+448insCTTTCTTTCTTTCTTTCTTTCTTTCTCTTT CCTTCCTTCCTTCCTTCC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888587	A A	AGGAAGGA others(41): Show AGGAAGGAAGGAAGGAAGGAAGGAAAGAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18999.hp1 NA19003.hp2 others(2): Show NA18940.hp1 NA18999.hp1 NA19003.hp2 NA19060.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0013 a0001c0002t0003g0013	5	184	0.0272	48	c.460 others(63): Show c.460+447_460+448insCTTTCTTTCTTTCTTTCTTTCTCTTTCCTT CCTTCCTTCCTTCCTTCC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888587	A A	AGGAAGGA others(41): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19088.hp2 NA19000.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0022 a0001c0002t0005g0061 a0001c0002t0003g0022 a0001c0002t0005g0061	2	181	0.0110	48	c.460 others(63): Show c.460+447_460+448insCTTTCTTTCTTTCTTTCTCTTTCCTTCCTT CCTTCCTTCCTTCCTTCC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888587	A A	AGGAAGGA others(41): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18969.hp2 NA18993.hp2 NA18949.hp2 NA18969.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0018 a0001c0002t0003g0018	3	182	0.0165	48	c.460 others(63): Show c.460+447_460+448insCTTTCTTTCTTTCTCTTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888587	A A	AGGAAGGA others(41): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0058 a0001c0002t0003g0058	1	180	0.0056	48	c.460 others(63): Show c.460+447_460+448insCTTTCTTTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TGM2_chr20_38122385_38170270	38123844	T T	TTATATAT others(41): Show TTATATATAATATACATATACCTATTATATATATAATATACCTATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	341	0.0029	48	c.63 others(59): Show c.6374_*6375insTATAATAGGTATATTATATATATAATAGGTATAT GTATATTATATATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3540		chr20	TogoVar
THADA_chr2_43225851_43601038	43400457	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0027 a0006c0005t0001g0027	1	115	0.0087	48	c.405 others(67): Show c.4059-2319_4059-2318insTATATATATATATATATATATATATA TATATATATATATATATATATA	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	28/37			chr2	TogoVar
THEG_chr19_356747_381026	377283	C C	CCCCCCGT others(41): Show CCCCCCGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	349	0.0029	48	c.-13 others(59): Show c.-1314_-1313insAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGG GTGGGGCACGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1258		chr19	TogoVar
THEM4_chr1_151865866_151914511	151867588	C C	CTCCTCTT others(41): Show CTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	51	0.0196	48	c.72 others(59): Show c.7299_*7300insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAGGA	THEM4	ENSG00000159445.13	transcript	ENST00000368814.8	protein_coding		3277		chr1	TogoVar
THOP1_chr19_2780503_2820807	2802474	A A	AACACCTC others(41): Show AACACCTCCCGACACCAACACCTCCCGACACCAACACCTCACGACACCC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03669.hp2 HG04228.hp2 HG03491.hp1 HG03669.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	3	368	0.0082	48	c.590 others(65): Show c.590-2503_590-2456dupCACGACACCCACACCTCCCGACACCAAC ACCTCCCGACACCAACACCT	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
THSD4_chr15_71110471_71788383	71510916	C C	CGTTTGGC others(41): Show CGTTTGGCGGTGTGGTCGAGTGATATTTTGAGAGGATGGATGAACTCGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03098.hp1 HG02970.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0002 a0001c0001t0003 a0001c0008t0002	a0001c0001t0003g0022 a0001c0008t0002g0099 a0001c0001t0003g0022 a0001c0008t0002g0099	2	116	0.0172	48	c.115 others(69): Show c.1152+99116_1152+99117insATTTTGAGAGGATGGATGAACTCG TGTTTGGCGGTGTGGTCGAGTGAT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71510937	G G	GATATTTT others(41): Show GATATTTTGAGAGGATGGATGAACTCGTGTTTGGCGGTGTGGTCGAGTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG02257.hp2 others(16): Show HG00099.hp2 HG00642.hp2 HG02257.hp2 HG02572.hp2 HG02622.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02896.hp1 HG02970.hp2 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0002c0005 a0003c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0022 a0001c0001t0036 a0001c0001t0042 a0001c0002t0002 a0001c0002t0024 a0001c0003t0002 a0001c0003t0003 a0001c0004t0005 a0001c0004t0007 a0001c0004t0017 a0001c0006t0017 a0001c0007t0007 a0002c0005t0033 a0003c0010t0027	a0001c0001t0001g0020 a0001c0001t0003g0046 a0001c0001t0008g0037 others(16): Show a0001c0001t0001g0020 a0001c0001t0003g0046 a0001c0001t0008g0037 a0001c0001t0008g0060 a0001c0001t0010g0053 a0001c0001t0022g0056 a0001c0001t0036g0089 a0001c0001t0042g0104 a0001c0002t0002g0073 a0001c0002t0024g0019 a0001c0003t0002g0079 a0001c0003t0003g0108 a0001c0004t0005g0109 a0001c0004t0007g0062 a0001c0004t0017g0032 a0001c0006t0017g0095 a0001c0007t0007g0070 a0002c0005t0033g0040 a0003c0010t0027g0088	19	109	0.1743	48	c.115 others(69): Show c.1152+99116_1152+99117insATTTTGAGAGGATGGATGAACTCG TGTTTGGCGGTGTGGTCGAGTCAT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71510937	G G	GATGTTTT others(41): Show GATGTTTTGAGAGGATGGATGAACTCGTGTTTGGCGGTGTGGTCGAGTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02145.hp1 HG02486.hp2 others(4): Show HG01346.hp2 HG02145.hp1 HG02486.hp2 HG02818.hp1 HG02965.hp2 HG03139.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0002c0005	a0001c0001t0012 a0001c0001t0020 a0001c0002t0002 others(4): Show a0001c0001t0012 a0001c0001t0020 a0001c0002t0002 a0001c0003t0031 a0001c0006t0012 a0001c0007t0001 a0002c0005t0003	a0001c0001t0012g0049 a0001c0001t0020g0036 a0001c0002t0002g0018 others(4): Show a0001c0001t0012g0049 a0001c0001t0020g0036 a0001c0002t0002g0018 a0001c0003t0031g0064 a0001c0006t0012g0078 a0001c0007t0001g0008 a0002c0005t0003g0114	7	97	0.0722	48	c.115 others(69): Show c.1152+99122_1152+99123insAGAGGATGGATGAACTCGTGTTTG GCGGTGTGGTCGAGTCATGTTTTG	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0018 a0002c0021t0018	a0002c0021t0018g0169 a0002c0021t0018g0169	1	60	0.0167	48	c.190 others(67): Show c.190+62603_190+62604insAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATATATA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0055 a0001c0038t0055	a0001c0038t0055g0161 a0001c0038t0055g0161	1	60	0.0167	48	c.190 others(67): Show c.190+62603_190+62604insAAAAAAAAAAAAAAAAAAAAAAAATA TATATATATATATATATATATA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATATAT others(41): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0027 a0001c0010t0001g0027	1	60	0.0167	48	c.190 others(67): Show c.190+62603_190+62604insAAAAAAAAAAAAAAAAAAAAAAAAAA TATATATATATATATATATATA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7B_chr2_136760545_137682718	137211336	A A	ACACACAC others(41): Show ACACACACACACACACACACACACACACACACACACACACACACAGAGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG01169.hp2 others(5): Show HG00735.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01515.hp2 HG02630.hp1 HG02647.hp1 NA18747.hp1	a0003 a0004 a0003 a0004	a0003c0002 a0003c0014 a0004c0007 others(1): Show a0003c0002 a0003c0014 a0004c0007 a0004c0051	a0003c0002t0009 a0003c0002t0015 a0003c0014t0002 others(4): Show a0003c0002t0009 a0003c0002t0015 a0003c0014t0002 a0003c0014t0018 a0004c0007t0001 a0004c0007t0008 a0004c0051t0001	a0003c0002t0009g0089 a0003c0002t0015g0038 a0003c0014t0002g0001 others(5): Show a0003c0002t0009g0089 a0003c0002t0015g0038 a0003c0014t0002g0001 a0003c0014t0018g0094 a0004c0007t0001g0045 a0004c0007t0008g0048 a0004c0007t0008g0049 a0004c0051t0001g0069	8	89	0.0899	48	c.172 others(69): Show c.1724-19679_1724-19678insACACACACACACACAGAGGCACAC ACACACACACACACACACACACAC	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137303720	A A	ATATATTT others(41): Show ATATATTTATATATATATTTATATATATTTATATATTTATATATATATT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02451.hp2 HG02630.hp2 others(5): Show HG00735.hp2 HG02451.hp2 HG02630.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp2 NA18906.hp2 NA19240.hp1	a0001 a0002 a0022 a0001 a0002 a0022	a0001c0001 a0001c0010 a0001c0013 others(3): Show a0001c0001 a0001c0010 a0001c0013 a0002c0006 a0002c0030 a0022c0022	a0001c0001t0001 a0001c0010t0002 a0001c0013t0002 others(4): Show a0001c0001t0001 a0001c0010t0002 a0001c0013t0002 a0002c0006t0001 a0002c0006t0002 a0002c0030t0004 a0022c0022t0003	a0001c0001t0001g0061 a0001c0010t0002g0020 a0001c0010t0002g0053 others(5): Show a0001c0001t0001g0061 a0001c0010t0002g0020 a0001c0010t0002g0053 a0001c0013t0002g0072 a0002c0006t0001g0015 a0002c0006t0002g0035 a0002c0030t0004g0051 a0022c0022t0003g0097	8	94	0.0851	48	c.250 others(69): Show c.2500+27699_2500+27700insTTATATATATATTTATATATATTT ATATATTTATATATATATTTATAT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137419379	T T	TTTTTTTT others(41): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00609.hp2 others(8): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00738.hp1 HG02258.hp2 HG02647.hp1 HG02886.hp2 HG03225.hp1 HG03453.hp1 NA18993.hp2 NA19000.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0015 a0017	a0001c0001 a0002c0003 a0003c0014 others(6): Show a0001c0001 a0002c0003 a0003c0014 a0004c0055 a0007c0050 a0008c0042 a0009c0034 a0015c0024 a0017c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0003t0009 a0003c0014t0002 a0004c0055t0003 a0007c0050t0001 a0008c0042t0006 a0009c0034t0001 a0015c0024t0014 a0017c0026t0005	a0001c0001t0001g0018 a0001c0001t0002g0034 a0001c0001t0003g0081 others(8): Show a0001c0001t0001g0018 a0001c0001t0002g0034 a0001c0001t0003g0081 a0002c0003t0009g0075 a0003c0014t0002g0001 a0004c0055t0003g0076 a0007c0050t0001g0019 a0008c0042t0006g0043 a0009c0034t0001g0064 a0015c0024t0014g0037 a0017c0026t0005g0085	11	70	0.1571	48	c.295 others(67): Show c.2959+7507_2959+7508insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCG	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	14/27			chr2	TogoVar
THUMPD2_chr2_39731061_39784258	39783582	C C	CACACACA others(41): Show CACACACACACACACACACACACACATACACACACACATACACACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0011 a0003c0004t0011	a0003c0004t0011g0171 a0003c0004t0011g0171	1	322	0.0031	48	c.-43 others(59): Show c.-4344_-4343insATGTGTGTGTATGTGTGTGTGTATGTGTGTGTGT GTGTGTGTGTGTGT	THUMPD2	ENSG00000138050.15	transcript	ENST00000505747.6	protein_coding		4325		chr2	TogoVar
TIAM1_chr21_31113418_31349261	31228241	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAGGAGAAATAATCTGATAAGGATTTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0143 a0001c0002t0016g0143	1	205	0.0049	48	c.158 others(67): Show c.1585-2292_1585-2291insAAAGGAAAAATCCTTATCAGATTATT TCTCCTTTTTTTTTTTTTTTTT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	6/27			chr21	TogoVar
TIAM2_chr6_154990315_155262723	155029110	A A	ACATACAC others(41): Show ACATACACTATAGGTACTATGTGTTACATACACTATAGGTACTATGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01891.hp1 HG02257.hp1 others(6): Show HG01099.hp2 HG01891.hp1 HG02257.hp1 HG02451.hp1 HG02965.hp2 HG03139.hp1 HG03195.hp2 NA18968.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(3): Show a0001c0001 a0001c0004 a0001c0007 a0001c0042 a0001c0043 a0002c0003	a0001c0001t0005 a0001c0004t0007 a0001c0007t0001 others(4): Show a0001c0001t0005 a0001c0004t0007 a0001c0007t0001 a0001c0042t0006 a0001c0043t0008 a0002c0003t0001 a0002c0003t0010	a0001c0001t0005g0178 a0001c0001t0005g0191 a0001c0001t0005g0192 others(6): Show a0001c0001t0005g0178 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0004t0007g0225 a0001c0007t0001g0136 a0001c0042t0006g0048 a0001c0043t0008g0065 a0002c0003t0001g0104 a0002c0003t0010g0165	9	209	0.0431	48	c.-20 others(69): Show c.-209+33618_-209+33619insCATACACTATAGGTACTATGTGTT ACATACACTATAGGTACTATGTGT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26			chr6	TogoVar
TIMM22_chr17_992129_1008671	993340	C C	CCTCACAT others(41): Show CCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(53): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG01081.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01515.hp2 HG01978.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02698.hp2 HG03453.hp2 HG03491.hp1 HG03704.hp2 HG03942.hp2 HG04199.hp1 NA18522.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18952.hp2 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18989.hp1 NA18994.hp1 NA18995.hp2 NA19002.hp2 NA19004.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19080.hp2 NA19082.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0036	a0001c0001t0001g0001 a0001c0001t0002g0025 a0001c0001t0002g0046 others(13): Show a0001c0001t0001g0001 a0001c0001t0002g0025 a0001c0001t0002g0046 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0003g0087 a0001c0001t0004g0001 a0001c0001t0004g0009 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0010g0001 a0001c0001t0013g0001 a0001c0001t0023g0001 a0001c0001t0025g0001 a0001c0001t0026g0001 a0001c0001t0036g0040	56	266	0.2105	48	c.-38 others(59): Show c.-3803_-3802insCTCACATAATCCACCTCACATAATCCACCCTCAC ATAATCCACCCACA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3788		chr17	TogoVar
TIMP3_chr22_32796705_32868041	32814324	A A	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0327 a0001c0001t0006g0327	1	50	0.0200	48	c.121 others(67): Show c.121+12218_121+12219insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGGAAGAAAGAAAGAAAGA	TIMP3	ENSG00000100234.12	transcript	ENST00000266085.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
TIMP3_chr22_32796705_32868041	32814324	A A	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02109.hp2 others(10): Show HG01167.hp1 HG01169.hp1 HG02109.hp2 HG02451.hp2 HG02602.hp1 HG03239.hp1 HG03453.hp2 HG03831.hp2 NA18967.hp2 NA19076.hp1 NA19076.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 others(3): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0002t0001 a0001c0003t0002	a0001c0001t0004g0055 a0001c0001t0004g0291 a0001c0001t0004g0292 others(9): Show a0001c0001t0004g0055 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0011g0286 a0001c0001t0013g0280 a0001c0001t0015g0020 a0001c0002t0001g0306 a0001c0003t0002g0142	13	62	0.2097	48	c.121 others(67): Show c.121+12218_121+12219insAAGAAAGAAAGAAAGAAAGAAAGGAA GAAAGGAAGAAAGAAAGAAAGA	TIMP3	ENSG00000100234.12	transcript	ENST00000266085.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
TLDC2_chr20_36871138_36899235	36880070	C C	CATATATA others(41): Show CATATATATATATGTATATATATATATGTGTGTGTATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19074.hp2 NA19056.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0167 a0001c0001t0001g0173	2	159	0.0126	48	c.343 others(63): Show c.343-573_343-572insGTATATATATATATGTGTGTGTATATATAT ATATATATATATATATAT	TLDC2	ENSG00000101342.10	transcript	ENST00000217320.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
TLDC2_chr20_36871138_36899235	36890396	C C	CCCTTTCT others(41): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02300.hp2 NA19055.hp2 HG01934.hp2 HG02300.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0048 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0048	3	25	0.1200	48	c.17 others(63): Show c.17+993_*17+994insCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTT	TLDC2	ENSG00000101342.10	transcript	ENST00000217320.8	protein_coding	6/6			chr20	TogoVar
TLL1_chr4_165868237_166109457	166052965	G G	GTGTGTGT others(41): Show GTGTGTGTGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0039 a0002c0029t0039	a0002c0029t0039g0002 a0002c0029t0039g0002	1	71	0.0141	48	c.152 others(67): Show c.1525-2110_1525-2109insGTGTGTGTATATATATATATATATAT ATATATATATATATATATATAT	TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TM2D3_chr15_101636848_101657381	101646404	A A	AGCACTCA others(41): Show AGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01099.hp2 others(10): Show HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01346.hp2 HG02004.hp2 HG02135.hp2 HG02258.hp2 HG02630.hp1 HG02922.hp1 HG04204.hp2 HG04228.hp2 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0001t0001 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0052 a0001c0002t0001g0010 a0001c0002t0001g0101 others(1): Show a0001c0001t0001g0052 a0001c0002t0001g0010 a0001c0002t0001g0101 a0001c0006t0001g0043	13	364	0.0357	48	c.502 others(63): Show c.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT GCCTGAGTGCCTGAGTGC	TM2D3	ENSG00000184277.13	transcript	ENST00000333202.8	protein_coding	4/5			chr15	TogoVar

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