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
TMC5_chr16_19412883_19504113	19473345	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0119 a0001c0001t0004g0119	1	50	0.0200	18	c.193 others(35): Show c.1939-761_1939-744dupAAAAAAAAAAAAAAAAAA	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC5_chr16_19412883_19504113	19492915	G G	GAGATATA others(11): Show GAGATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0248 a0002c0002t0001g0248	1	170	0.0059	18	c.282 others(35): Show c.2826+688_2826+689insGATATATATATATATATA	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC5_chr16_19412883_19504113	19492915	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00639.hp2 others(18): Show HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG01884.hp2 HG02015.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG03139.hp2 HG03491.hp2 NA18939.hp1 NA18964.hp1 NA18978.hp1 NA18981.hp1 NA19005.hp1 NA19005.hp2 NA19056.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0011	a0001c0001 a0001c0005 a0001c0007 others(3): Show a0001c0001 a0001c0005 a0001c0007 a0002c0002 a0006c0008 a0011c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0017 a0001c0005t0004 a0001c0007t0001 a0002c0002t0001 a0006c0008t0001 a0011c0012t0004	a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0001g0117 others(18): Show a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0001g0117 a0001c0001t0001g0150 a0001c0001t0001g0176 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0004g0236 a0001c0001t0004g0239 a0001c0001t0005g0135 a0001c0001t0005g0196 a0001c0001t0017g0121 a0001c0001t0017g0122 a0001c0005t0004g0099 a0001c0005t0004g0107 a0001c0007t0001g0069 a0002c0002t0001g0134 a0002c0002t0001g0308 a0006c0008t0001g0208 a0011c0012t0004g0053	21	190	0.1105	18	c.282 others(35): Show c.2826+688_2826+705dupATATATATATATATATAT	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC7_chr16_18978934_19068942	19010459	T T	TTATTTCT others(11): Show TTATTTCTTGCTAGCATAA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0164 a0001c0005t0002g0164	1	280	0.0036	18	c.311 others(35): Show c.311+1045_311+1062dupTATTTCTTGCTAGCATAA	TMC7	ENSG00000170537.13	transcript	ENST00000304381.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC7_chr16_18978934_19068942	19064341	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02717.hp1 HG02818.hp2 others(1): Show HG02135.hp1 HG02717.hp1 HG02818.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 others(1): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0279	4	277	0.0144	18	c.24 others(29): Show c.2498_*2499insTGTGTGTGTGTGTGTGTG	TMC7	ENSG00000170537.13	transcript	ENST00000304381.10	protein_coding		400		chr16	TogoVar
TMC7_chr16_18978934_19068942	19064343	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00673.hp2 HG00741.hp2 others(13): Show HG00639.hp1 HG00673.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01123.hp2 HG01256.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01993.hp2 HG02080.hp2 HG02132.hp1 NA18975.hp2 NA19079.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0039 a0001c0001t0001g0062 a0001c0001t0001g0106 others(13): Show a0001c0001t0001g0039 a0001c0001t0001g0062 a0001c0001t0001g0106 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0249 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0005g0226 a0001c0001t0005g0258	16	238	0.0672	18	c.25 others(29): Show c.2500_*2501insTGTGTGTGTGTGTGTGTG	TMC7	ENSG00000170537.13	transcript	ENST00000304381.10	protein_coding		402		chr16	TogoVar
TMC7_chr16_18978934_19068942	19064345	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG04184.hp2 HG01952.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0017t0033 a0001c0001t0001 a0001c0017t0033	a0001c0001t0001g0275 a0001c0017t0033g0247 a0001c0001t0001g0275 a0001c0017t0033g0247	2	188	0.0106	18	c.25 others(29): Show c.2502_*2503insTGTGTGTGTGTGTGTGTG	TMC7	ENSG00000170537.13	transcript	ENST00000304381.10	protein_coding		404		chr16	TogoVar
TMC7_chr16_18978934_19068942	19064347	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0021 a0005c0007t0021	a0005c0007t0021g0203 a0005c0007t0021g0203	1	51	0.0196	18	c.25 others(29): Show c.2504_*2505insTGTGTGTGTGTGTGTGTG	TMC7	ENSG00000170537.13	transcript	ENST00000304381.10	protein_coding		406		chr16	TogoVar
TMC8_chr17_78125771_78147968	78128630	G G	GGCCGCGC others(11): Show GGCCGCGCGCAGCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0081 a0001c0001t0009g0081	1	452	0.0022	18	c.-25 others(29): Show c.-2530_-2529insGCCGCGCGCAGCCAGGGC	TMC8	ENSG00000167895.16	transcript	ENST00000318430.10	protein_coding		2140		chr17	TogoVar
TMCC1_chr3_129642792_129898711	129726868	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03490.hp1 HG03669.hp2 others(1): Show HG02602.hp1 HG03490.hp1 HG03669.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0026 a0001c0002t0005 a0001c0001t0001 a0001c0001t0026 a0001c0002t0005	a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0026g0228 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0026g0228 a0001c0002t0005g0183	4	37	0.1081	18	c.577 others(37): Show c.577-55622_577-55605dupTTTTTTTTTTTTTTTTTT	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCC3_chr12_94562122_94655557	94592661	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03239.hp1 HG01433.hp2 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0001 a0001c0002t0003 a0001c0003t0001	a0001c0002t0003g0309 a0001c0003t0001g0168 a0001c0002t0003g0309 a0001c0003t0001g0168	2	106	0.0189	18	c.79- others(35): Show c.79-10141_79-10124dupTTTTTTTTTTTTTTTTTT	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCC3_chr12_94562122_94655557	94597120	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18947.hp2 HG01978.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0131 a0001c0003t0003g0294 a0001c0001t0002g0131 a0001c0003t0003g0294	2	140	0.0143	18	c.79- others(35): Show c.79-14583_79-14582insATATATATATATATATAT	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCC3_chr12_94562122_94655557	94597124	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0019 a0001c0003t0017g0019	1	233	0.0043	18	c.79- others(35): Show c.79-14604_79-14587dupATATATATATATATATAT	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCC3_chr12_94562122_94655557	94629220	C C	CAACAATG others(11): Show CAACAATGTCCTACAAACA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	376	0.0027	18	c.78+ others(35): Show c.78+21115_78+21132dupTGTTTGTAGGACATTGTT	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCO1_chr1_165721795_165773868	165722914	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03516.hp2 HG02559.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0237 a0001c0001t0005g0238 a0001c0001t0005g0237 a0001c0001t0005g0238	2	22	0.0909	18	c.51 others(29): Show c.5108_*5109insTTTTTTTTTTTTTTTTTT	TMCO1	ENSG00000143183.18	transcript	ENST00000367881.11	protein_coding		3880		chr1	TogoVar
TMCO1_chr1_165721795_165773868	165746453	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02071.hp1 HG02647.hp1 others(1): Show HG01934.hp2 HG02071.hp1 HG02647.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0126 a0001c0001t0001g0220 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0126 a0001c0001t0001g0220 a0001c0001t0001g0221	4	48	0.0833	18	c.324 others(35): Show c.324-3160_324-3143dupTGTGTGTGTGTGTGTGTG	TMCO1	ENSG00000143183.18	transcript	ENST00000367881.11	protein_coding	5/6			chr1	TogoVar
TMCO2_chr1_40242937_40256684	40249255	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	99	0.0101	18	c.237 others(35): Show c.237+1055_237+1072dupGTGTGTGTGTGTGTGTGT	TMCO2	ENSG00000188800.6	transcript	ENST00000372766.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMCO3_chr13_113486021_113555229	113543445	C C	CCCCGCCC others(11): Show CCCCGCCCTCCATCTGTGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0281 a0001c0009t0004g0281	1	362	0.0028	18	c.169 others(37): Show c.1691-3855_1691-3854insCCCGCCCTCCATCTGTGT	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12			chr13	TogoVar
TMCO4_chr1_19677240_19804916	19699486	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18906.hp2 HG02922.hp1 NA18906.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0160 a0003c0004t0002g0161 a0003c0004t0002g0160 a0003c0004t0002g0161	2	136	0.0147	18	c.138 others(37): Show c.1382+1264_1382+1281dupATATATATATATATATAT	TMCO4	ENSG00000162542.14	transcript	ENST00000294543.11	protein_coding	14/15			chr1	TogoVar
TMCO4_chr1_19677240_19804916	19802922	C C	CATATATA others(11): Show CATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(27): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00673.hp2 HG00735.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01261.hp1 HG01433.hp2 HG02257.hp2 HG02273.hp1 HG02486.hp2 HG02970.hp1 HG03098.hp2 HG03225.hp1 HG03688.hp1 NA18747.hp1 NA19003.hp2 NA19010.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0010 a0016	a0001c0002 a0001c0003 a0001c0006 others(11): Show a0001c0002 a0001c0003 a0001c0006 a0002c0001 a0003c0004 a0003c0007 a0003c0015 a0004c0009 a0005c0010 a0007c0020 a0007c0031 a0009c0013 a0010c0038 a0016c0043	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(14): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0006t0002 a0002c0001t0001 a0002c0001t0002 a0003c0004t0001 a0003c0004t0002 a0003c0007t0001 a0003c0015t0002 a0004c0009t0001 a0005c0010t0002 a0007c0020t0002 a0007c0031t0002 a0009c0013t0001 a0010c0038t0001 a0016c0043t0001	a0001c0002t0001g0176 a0001c0002t0002g0066 a0001c0002t0002g0068 others(27): Show a0001c0002t0001g0176 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0098 a0001c0002t0002g0298 a0001c0003t0001g0129 a0001c0006t0002g0101 a0001c0006t0002g0183 a0002c0001t0001g0035 a0002c0001t0001g0080 a0002c0001t0001g0092 a0002c0001t0001g0094 a0002c0001t0001g0128 a0002c0001t0001g0142 a0002c0001t0001g0145 a0002c0001t0002g0093 a0002c0001t0002g0266 a0003c0004t0001g0044 a0003c0004t0001g0056 a0003c0004t0002g0083 a0003c0007t0001g0214 a0003c0007t0001g0215 a0003c0015t0002g0062 a0004c0009t0001g0037 a0005c0010t0002g0064 a0007c0020t0002g0283 a0007c0031t0002g0032 a0009c0013t0001g0184 a0010c0038t0001g0136 a0016c0043t0001g0269	30	65	0.4615	18	c.-32 others(29): Show c.-3248_-3247insATATATATATATATATAT	TMCO4	ENSG00000162542.14	transcript	ENST00000294543.11	protein_coding		3007		chr1	TogoVar
TMED10_chr14_75126469_75181612	75147185	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0225 a0001c0001t0008g0225	1	7	0.1429	18	c.411 others(33): Show c.411+461_411+478dupAAAAAAAAAAAAAAAAAA	TMED10	ENSG00000170348.9	transcript	ENST00000303575.9	protein_coding	3/4			chr14	TogoVar
TMED10_chr14_75126469_75181612	75164577	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0214 a0001c0002t0002g0214	1	147	0.0068	18	c.225 others(37): Show c.225+11777_225+11778insAAAATATATATATATATA	TMED10	ENSG00000170348.9	transcript	ENST00000303575.9	protein_coding	1/4			chr14	TogoVar
TMED3_chr15_79306112_79327840	79310999	C C	CGGGGGGG others(11): Show CGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	28	0.0357	18	c.-25 others(27): Show c.-251_-250insGGGGGGGGGGGGGGGGGG	TMED3	ENSG00000166557.14	transcript	ENST00000299705.10	protein_coding		112		chr15	TogoVar
TMED5_chr1_93144742_93185413	93169882	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18961.hp2 NA19010.hp1 NA18943.hp2 NA18961.hp2 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0034 a0002c0002t0001g0082 a0002c0002t0001g0083	3	18	0.1667	18	c.190 others(35): Show c.190-9674_190-9657dupGTGTGTGTGTGTGTGTGT	TMED5	ENSG00000117500.13	transcript	ENST00000370282.8	protein_coding	1/3			chr1	TogoVar
TMED5_chr1_93144742_93185413	93175175	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG03195.hp2 others(5): Show HG01109.hp2 HG01884.hp1 HG03195.hp2 HG03225.hp2 NA18522.hp2 NA18981.hp1 NA18998.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0024	a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0007g0233 others(4): Show a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0007g0233 a0001c0001t0007g0234 a0001c0001t0010g0020 a0001c0001t0010g0124 a0001c0001t0024g0270	8	58	0.1379	18	c.189 others(35): Show c.189+4861_189+4878dupTATATATATATATATATA	TMED5	ENSG00000117500.13	transcript	ENST00000370282.8	protein_coding	1/3			chr1	TogoVar
TMED9_chr5_177587203_177602242	177600075	G G	GCGGCGGA others(11): Show GCGGCGGACCCGGCGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	260	0.0077	18	c.46 others(29): Show c.4659_*4660insCGGCGGACCCGGCGGACC	TMED9	ENSG00000184840.12	transcript	ENST00000332598.7	protein_coding		2834		chr5	TogoVar
TMEFF1_chr9_100468149_100582636	100497320	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18951.hp2 NA18966.hp1 others(8): Show NA18948.hp1 NA18951.hp2 NA18966.hp1 NA18977.hp2 NA18982.hp2 NA18992.hp1 NA18994.hp2 NA19030.hp1 NA19054.hp1 NA19060.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0171 others(8): Show a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0006g0023	11	150	0.0733	18	c.197 others(35): Show c.197-1438_197-1421dupTTTTTTTTTTTTTTTTTT	TMEFF1	ENSG00000241697.5	transcript	ENST00000374879.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMEFF2_chr2_191944046_192199933	191955524	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	28	0.0357	18	c.869 others(33): Show c.869+713_869+730dupAAAAAAAAAAAAAAAAAA	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	8/9			chr2	TogoVar
TMEFF2_chr2_191944046_192199933	191964398	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	103	0.0097	18	c.746 others(35): Show c.746-8021_746-8020insAAGAAAGAAAGAAAGAAA	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	7/9			chr2	TogoVar
TMEFF2_chr2_191944046_192199933	191990416	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG01261.hp1 others(18): Show HG00639.hp1 HG01109.hp1 HG01261.hp1 HG01433.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02148.hp1 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp2 HG02965.hp2 HG03490.hp1 HG03654.hp2 NA18949.hp2 NA18957.hp2 NA19002.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0012 a0001c0003t0010 a0001c0001t0001 a0001c0001t0012 a0001c0003t0010	a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0041 others(18): Show a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0012g0160 a0001c0003t0010g0022	21	26	0.8077	18	c.745 others(35): Show c.745+7828_745+7845dupACACACACACACACACAC	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	7/9			chr2	TogoVar
TMEFF2_chr2_191944046_192199933	192075285	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	108	0.0093	18	c.440 others(37): Show c.440-17528_440-17511dupTATATATATATATATATA	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	4/9			chr2	TogoVar
TMEFF2_chr2_191944046_192199933	192075286	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	162	0.0062	18	c.440 others(37): Show c.440-17512_440-17511insTTATATATATATATATAT	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	4/9			chr2	TogoVar
TMEFF2_chr2_191944046_192199933	192075304	T T	TAAATATA others(11): Show TAAATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	129	0.0078	18	c.440 others(37): Show c.440-17530_440-17529insTTATATATATATATATTT	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	4/9			chr2	TogoVar
TMEFF2_chr2_191944046_192199933	192075332	T T	TATATATA others(11): Show TATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	95	0.0105	18	c.440 others(37): Show c.440-17558_440-17557insGTGTGTATATATATATAT	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	4/9			chr2	TogoVar
TMEFF2_chr2_191944046_192199933	192164978	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18906.hp1 NA20300.hp2 HG03579.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0031 a0001c0001t0001g0108 a0001c0001t0005g0159 a0001c0001t0001g0031 a0001c0001t0001g0108 a0001c0001t0005g0159	3	41	0.0732	18	c.439 others(37): Show c.439+14672_439+14689dupCACACACACACACACACA	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	4/9			chr2	TogoVar
TMEM106B_chr7_12206294_12248367	12221087	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0118 a0001c0001t0040g0118	1	126	0.0079	18	c.281 others(35): Show c.281+2573_281+2590dupGTGTGTGTGTGTGTGTGT	TMEM106B	ENSG00000106460.20	transcript	ENST00000396668.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMEM107_chr17_8167457_8181380	8179061	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0079 a0001c0001t0056g0079	1	430	0.0023	18	c.-27 others(29): Show c.-2776_-2775insATATATATATATATATAT	TMEM107	ENSG00000179029.15	transcript	ENST00000437139.7	protein_coding		2682		chr17	TogoVar
TMEM107_chr17_8167457_8181380	8179063	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	389	0.0026	18	c.-27 others(29): Show c.-2778_-2777insATATATATATATATATAT	TMEM107	ENSG00000179029.15	transcript	ENST00000437139.7	protein_coding		2684		chr17	TogoVar
TMEM108_chr3_133033391_133402775	133073484	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp1 HG01243.hp1 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0003 a0001c0001t0002 a0002c0004t0003	a0001c0001t0002g0156 a0002c0004t0003g0158 a0001c0001t0002g0156 a0002c0004t0003g0158	2	193	0.0104	18	c.-47 others(37): Show c.-47+27474_-47+27491dupCTCTCTCTCTCTCTCTCT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133073510	C C	CTCTCTAT others(11): Show CTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	55	0.0182	18	c.-47 others(37): Show c.-47+27491_-47+27492insCTCTATATATATATATAT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133073510	C C	CTCTCTCT others(11): Show CTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	55	0.0182	18	c.-47 others(37): Show c.-47+27491_-47+27492insCTCTCTATATATATATAT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133073510	C C	CTCTCTCT others(11): Show CTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19030.hp1 HG02486.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0207 a0001c0001t0007g0139 a0001c0001t0006g0207 a0001c0001t0007g0139	2	56	0.0357	18	c.-47 others(37): Show c.-47+27491_-47+27492insCTCTCTCTATATATATAT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133073510	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	55	0.0182	18	c.-47 others(37): Show c.-47+27491_-47+27492insCTCTCTCTCTATATATAT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133073510	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	55	0.0182	18	c.-47 others(37): Show c.-47+27491_-47+27492insCTCTCTCTCTCTATATAT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133073510	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03195.hp1 NA18906.hp1 HG02886.hp2 HG03195.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0064 a0001c0001t0007g0140 a0001c0001t0007g0151 a0001c0001t0003g0064 a0001c0001t0007g0140 a0001c0001t0007g0151	3	57	0.0526	18	c.-47 others(37): Show c.-47+27491_-47+27492insCTCTCTCTCTCTCTATAT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133073510	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA19043.hp1 HG01074.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0012 a0001c0008t0008 a0001c0001t0012 a0001c0008t0008	a0001c0001t0012g0045 a0001c0008t0008g0178 a0001c0001t0012g0045 a0001c0008t0008g0178	2	56	0.0357	18	c.-47 others(37): Show c.-47+27491_-47+27492insCTCTCTCTCTCTCTCTAT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133272272	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0159 a0001c0001t0004g0159	1	60	0.0167	18	c.40+ others(35): Show c.40+42944_40+42961dupGTGTGTGTGTGTGTGTGT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133342544	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19090.hp2 NA19063.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0002g0071 a0001c0005t0001g0205 a0001c0001t0002g0071 a0001c0005t0001g0205	2	132	0.0152	18	c.41- others(35): Show c.41-37207_41-37206insGTATATATATATATATAT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133370871	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02258.hp1 NA18977.hp1 HG01496.hp1 HG02258.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0078 a0001c0001t0002g0217 a0001c0001t0002g0219	3	20	0.1500	18	c.41- others(33): Show c.41-8847_41-8830dupTGTGTGTGTGTGTGTGTG	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM116_chr12_111926298_112018165	111935613	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18946.hp1 NA18954.hp1 others(8): Show HG03927.hp1 NA18946.hp1 NA18954.hp1 NA18980.hp2 NA18984.hp1 NA18986.hp2 NA18994.hp2 NA19004.hp2 NA19012.hp2 NA19074.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0136 a0001c0001t0001g0137 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0163 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0181 a0002c0002t0001g0241	11	96	0.1146	18	c.588 others(35): Show c.588+1061_588+1078dupACACACACACACACACAC	TMEM116	ENSG00000198270.13	transcript	ENST00000552374.7	protein_coding	8/10			chr12	TogoVar

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