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
TMEM108_chr3_133033391_133402775	133073510	C C	CTCTCTAT others(5): Show CTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	220	0.0046	12	c.-47 others(31): Show c.-47+27491_-47+27492insCTCTATATATAT	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(5): Show CTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01258.hp1 HG01934.hp1 HG01175.hp1 HG01258.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0081 a0001c0002t0001g0188 a0001c0002t0001g0202 a0001c0001t0002g0081 a0001c0002t0001g0188 a0001c0002t0001g0202	3	220	0.0136	12	c.-47 others(31): Show c.-47+27491_-47+27492insCTCTCTATATAT	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(5): Show CTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	220	0.0046	12	c.-47 others(31): Show c.-47+27491_-47+27492insCTCTCTCTATAT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133156064	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02258.hp1 NA18522.hp2 HG00323.hp1 HG02258.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0137 a0001c0001t0002g0020 a0001c0001t0002g0218 a0001c0001t0001g0137 a0001c0001t0002g0020 a0001c0001t0002g0218	3	220	0.0136	12	c.-46 others(31): Show c.-46-73187_-46-73176dupTATTTATTTATT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133181008	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01496.hp2 HG02004.hp2 others(3): Show HG01433.hp1 HG01496.hp2 HG02004.hp2 HG04199.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0066 a0001c0001t0002g0080 others(3): Show a0001c0001t0002g0022 a0001c0001t0002g0066 a0001c0001t0002g0080 a0001c0001t0002g0185 a0001c0001t0002g0192 a0001c0001t0002g0206	6	220	0.0273	12	c.-46 others(31): Show c.-46-48239_-46-48228dupAAAAAAAAAAAA	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133272272	C C	CATGTGTG others(5): Show CATGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG03195.hp1 others(1): Show HG02886.hp2 HG02895.hp2 HG03195.hp1 HG03209.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0006 a0008c0009 a0001c0001 a0003c0006 a0008c0009	a0001c0001t0006 a0003c0006t0021 a0008c0009t0006 a0001c0001t0006 a0003c0006t0021 a0008c0009t0006	a0001c0001t0006g0101 a0001c0001t0006g0111 a0003c0006t0021g0102 others(1): Show a0001c0001t0006g0101 a0001c0001t0006g0111 a0003c0006t0021g0102 a0008c0009t0006g0123	4	220	0.0182	12	c.40+ others(29): Show c.40+42921_40+42922insATGTGTGTGTGT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	3/5			chr3	TogoVar
TMEM108_chr3_133033391_133402775	133272272	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01891.hp1 HG02109.hp1 others(6): Show HG01175.hp1 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02738.hp1 HG03516.hp2 NA18948.hp2 NA18956.hp2 NA19030.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0018 a0001c0001 a0001c0002 a0006c0018	a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0002t0001 a0006c0018t0003	a0001c0001t0003g0017 a0001c0001t0004g0106 a0001c0001t0004g0210 others(6): Show a0001c0001t0003g0017 a0001c0001t0004g0106 a0001c0001t0004g0210 a0001c0001t0019g0143 a0001c0002t0001g0175 a0001c0002t0001g0181 a0001c0002t0001g0202 a0001c0002t0001g0217 a0006c0018t0003g0041	9	220	0.0409	12	c.40+ others(29): Show c.40+42950_40+42961dupGTGTGTGTGTGT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133342555	T T	TATATATA others(5): Show TATATATACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	220	0.0046	12	c.41- others(29): Show c.41-37196_41-37195insTATATACACACA	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133342555	T T	TATATATA others(5): Show TATATATATACAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0213 a0001c0002t0001g0213	1	220	0.0046	12	c.41- others(29): Show c.41-37196_41-37195insTATATATACACA	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133342555	T T	TATATATA others(5): Show TATATATATATAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02148.hp1 HG02683.hp1 others(1): Show HG01081.hp2 HG02148.hp1 HG02683.hp1 HG02738.hp1	a0002 a0006 a0002 a0006	a0002c0005 a0006c0018 a0002c0005 a0006c0018	a0002c0005t0003 a0006c0018t0003 a0002c0005t0003 a0006c0018t0003	a0002c0005t0003g0021 a0002c0005t0003g0148 a0002c0005t0003g0195 others(1): Show a0002c0005t0003g0021 a0002c0005t0003g0148 a0002c0005t0003g0195 a0006c0018t0003g0041	4	220	0.0182	12	c.41- others(29): Show c.41-37196_41-37195insTATATATATACA	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(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18522.hp2 NA18948.hp1 others(6): Show HG02523.hp2 NA18522.hp2 NA18948.hp1 NA18994.hp2 NA18995.hp2 NA19005.hp2 NA19011.hp1 NA19063.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0020 others(6): Show a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0096 a0001c0001t0002g0211 a0001c0001t0018g0097	9	220	0.0409	12	c.41- others(27): Show c.41-8841_41-8830dupTGTGTGTGTGTG	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM108_chr3_133033391_133402775	133389916	T T	TTGATGAT others(5): Show TTGATGATGATGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02723.hp2 HG03041.hp2 others(3): Show HG01175.hp2 HG02723.hp2 HG03041.hp2 HG03195.hp2 NA18522.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0064 others(3): Show a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0105 a0001c0001t0001g0145 a0001c0001t0001g0176	6	220	0.0273	12	c.145 others(29): Show c.1451-253_1451-242dupGATGATGATGAT	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM109_chr11_60909158_60928443	60924501	G G	GGGCGGCG others(5): Show GGGCGGCGGCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02976.hp1 HG02738.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0003 a0001c0001t0006 a0001c0003t0003	a0001c0001t0006g0031 a0001c0003t0003g0006 a0001c0001t0006g0031 a0001c0003t0003g0006	2	362	0.0055	12	c.23 others(23): Show c.2336_*2337insGGCGGCGGCGGC	TMEM109	ENSG00000110108.10	transcript	ENST00000227525.8	protein_coding		1059		chr11	TogoVar
TMEM114_chr16_8564500_8595511	8564606	G G	GGAATGAG others(5): Show GGAATGAGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	416	0.0024	12	c.51 others(23): Show c.5155_*5166dupACTCACTCATTC	TMEM114	ENSG00000232258.7	transcript	ENST00000620492.5	protein_coding		4893		chr16	TogoVar
TMEM114_chr16_8564500_8595511	8574582	C C	CTTCCTTC others(5): Show CTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA19083.hp2 HG03704.hp2 NA19083.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0001 a0007c0006t0004 a0001c0001t0001 a0007c0006t0004	a0001c0001t0001g0088 a0007c0006t0004g0243 a0001c0001t0001g0088 a0007c0006t0004g0243	2	416	0.0048	12	c.302 others(29): Show c.302-2359_302-2358insAGAAAGAAGGAA	TMEM114	ENSG00000232258.7	transcript	ENST00000620492.5	protein_coding	2/3			chr16	TogoVar
TMEM114_chr16_8564500_8595511	8574582	C C	CTTCTTTC others(5): Show CTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01361.hp2 HG02015.hp2 others(12): Show HG01257.hp2 HG01361.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp2 HG02148.hp1 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02976.hp1 HG03130.hp1 HG03486.hp2 HG04115.hp2 NA18978.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0101 others(10): Show a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0116 a0001c0001t0001g0140 a0001c0001t0001g0167 a0001c0001t0001g0232 a0001c0001t0002g0235 a0001c0001t0002g0241 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0270 a0001c0001t0003g0271	15	416	0.0361	12	c.302 others(29): Show c.302-2370_302-2359dupAGAAAGAAAGAA	TMEM114	ENSG00000232258.7	transcript	ENST00000620492.5	protein_coding	2/3			chr16	TogoVar
TMEM114_chr16_8564500_8595511	8576704	C C	CAGGAAGG others(5): Show CAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19058.hp1 NA18990.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0204 a0001c0001t0002g0196 a0001c0001t0001g0204 a0001c0001t0002g0196	2	416	0.0048	12	c.302 others(29): Show c.302-4492_302-4481dupTCCTTCCTTCCT	TMEM114	ENSG00000232258.7	transcript	ENST00000620492.5	protein_coding	2/3			chr16	TogoVar
TMEM114_chr16_8564500_8595511	8591392	C C	CCATCACC others(5): Show CCATCACCACCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	416	0.0048	12	c.-15 others(23): Show c.-1555_-1554insATGGTGGTGATG	TMEM114	ENSG00000232258.7	transcript	ENST00000620492.5	protein_coding		882		chr16	TogoVar
TMEM115_chr3_50349750_50364521	50363466	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	12	c.-44 others(23): Show c.-4415_-4404dupCACACACACACA	TMEM115	ENSG00000126062.4	transcript	ENST00000266025.4	protein_coding		3946		chr3	TogoVar
TMEM116_chr12_111926298_112018165	111929492	A A	AGAAAGAA others(5): Show AGAAAGAAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	342	0.0029	12	c.21 others(23): Show c.2128_*2129insCTTCTTTCTTTC	TMEM116	ENSG00000198270.13	transcript	ENST00000552374.7	protein_coding		1805		chr12	TogoVar
TMEM116_chr12_111926298_112018165	111929492	A A	AGAAAGAA others(5): Show AGAAAGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG04204.hp1 HG03710.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0117 a0001c0001t0001g0058 a0001c0001t0001g0117	2	342	0.0059	12	c.21 others(23): Show c.2128_*2129insCTTCCTTCTTTC	TMEM116	ENSG00000198270.13	transcript	ENST00000552374.7	protein_coding		1805		chr12	TogoVar
TMEM116_chr12_111926298_112018165	111929576	A A	AAAGAAAG others(5): Show AAAGAAAGGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0270 a0002c0002t0001g0270	1	342	0.0029	12	c.20 others(23): Show c.2044_*2045insCTTTCCTTTCTT	TMEM116	ENSG00000198270.13	transcript	ENST00000552374.7	protein_coding		1721		chr12	TogoVar
TMEM116_chr12_111926298_112018165	111929635	A A	AGAAGGAA others(5): Show AGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01099.hp1 HG01175.hp1 others(11): Show HG00099.hp2 HG01099.hp1 HG01175.hp1 HG01884.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG03017.hp2 HG04204.hp2 NA18950.hp2 NA18959.hp2 NA19081.hp1 NA19082.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0011 a0001c0001 a0002c0002 a0007c0011	a0001c0001t0001 a0002c0002t0001 a0007c0011t0001 a0001c0001t0001 a0002c0002t0001 a0007c0011t0001	a0001c0001t0001g0191 a0001c0001t0001g0208 a0001c0001t0001g0215 others(11): Show a0001c0001t0001g0191 a0001c0001t0001g0208 a0001c0001t0001g0215 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0240 a0002c0002t0001g0250 a0002c0002t0001g0253 a0002c0002t0001g0255 a0002c0002t0001g0258 a0002c0002t0001g0259 a0007c0011t0001g0209	14	342	0.0409	12	c.19 others(23): Show c.1985_*1986insCTTCCTTCCTTC	TMEM116	ENSG00000198270.13	transcript	ENST00000552374.7	protein_coding		1662		chr12	TogoVar
TMEM116_chr12_111926298_112018165	111935613	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03486.hp1 HG03579.hp2 others(9): Show HG03195.hp1 HG03486.hp1 HG03579.hp2 HG04204.hp1 HG04204.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18969.hp1 NA18981.hp1 NA19075.hp1 NA19079.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0011 a0001c0001 a0002c0002 a0007c0011	a0001c0001t0001 a0002c0002t0001 a0007c0011t0001 a0001c0001t0001 a0002c0002t0001 a0007c0011t0001	a0001c0001t0001g0090 a0001c0001t0001g0117 a0001c0001t0001g0144 others(9): Show a0001c0001t0001g0090 a0001c0001t0001g0117 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0165 a0001c0001t0001g0215 a0002c0002t0001g0272 a0002c0002t0001g0275 a0002c0002t0001g0304 a0002c0002t0001g0326 a0002c0002t0001g0332 a0007c0011t0001g0209	12	342	0.0351	12	c.588 others(29): Show c.588+1067_588+1078dupACACACACACAC	TMEM116	ENSG00000198270.13	transcript	ENST00000552374.7	protein_coding	8/10			chr12	TogoVar
TMEM116_chr12_111926298_112018165	111940472	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0261 a0002c0002t0002g0261	1	342	0.0029	12	c.316 others(29): Show c.316-2263_316-2262insGTGTGTGTGTGT	TMEM116	ENSG00000198270.13	transcript	ENST00000552374.7	protein_coding	5/10			chr12	TogoVar
TMEM116_chr12_111926298_112018165	111940480	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02897.hp1 HG03225.hp2 others(7): Show HG02622.hp2 HG02897.hp1 HG03225.hp2 HG03927.hp1 NA18942.hp2 NA18960.hp2 NA18967.hp2 NA19068.hp1 NA19076.hp1 NA19083.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0001 a0004c0005t0001 a0002c0002t0001 a0004c0005t0001	a0002c0002t0001g0241 a0002c0002t0001g0262 a0002c0002t0001g0264 others(7): Show a0002c0002t0001g0241 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0301 a0002c0002t0001g0315 a0004c0005t0001g0263	10	342	0.0292	12	c.316 others(29): Show c.316-2282_316-2271dupGTGTGTGTGTGT	TMEM116	ENSG00000198270.13	transcript	ENST00000552374.7	protein_coding	5/10			chr12	TogoVar
TMEM116_chr12_111926298_112018165	111940523	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA19088.hp1 HG02148.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0170 a0001c0001t0001g0182	2	342	0.0059	12	c.316 others(29): Show c.316-2325_316-2314dupTATATATATATA	TMEM116	ENSG00000198270.13	transcript	ENST00000552374.7	protein_coding	5/10			chr12	TogoVar
TMEM117_chr12_43831081_44394758	43877890	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	110	0.0091	12	c.277 others(31): Show c.277+32990_277+33001dupCACACACACACA	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM117_chr12_43831081_44394758	43891367	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01168.hp1 HG01175.hp2 others(12): Show HG00738.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG02257.hp2 HG02486.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG03139.hp1 HG06807.hp1 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0053 a0001c0001t0001g0058 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0001t0001g0109 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0074 a0001c0001t0004g0072 a0001c0001t0004g0073	15	110	0.1364	12	c.277 others(31): Show c.277+46451_277+46462dupTTTTTTTTTTTT	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM117_chr12_43831081_44394758	43912507	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA19030.hp1 HG02896.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0094 a0001c0001t0002g0021 a0001c0001t0001g0094 a0001c0001t0002g0021	2	110	0.0182	12	c.278 others(31): Show c.278-31685_278-31674dupATATATATATAT	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM117_chr12_43831081_44394758	43912507	T T	TTTTATAT others(5): Show TTTTATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	110	0.0091	12	c.278 others(31): Show c.278-31702_278-31701insTTATATATATAT	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM117_chr12_43831081_44394758	43945109	C C	CTAAATAA others(5): Show CTAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01255.hp2 others(8): Show HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01261.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0098 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0002g0035 a0001c0001t0002g0057 a0001c0001t0002g0102 a0001c0001t0003g0016 a0001c0001t0003g0103	11	110	0.1000	12	c.410 others(27): Show c.410+788_410+799dupTAAATAAATAAA	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM117_chr12_43831081_44394758	43984364	T T	TAACAACA others(5): Show TAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	110	0.0091	12	c.410 others(31): Show c.410+40054_410+40065dupACAACAACAACA	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM117_chr12_43831081_44394758	43996642	C C	CAATAAAT others(5): Show CAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02559.hp2 HG02647.hp1 others(1): Show HG01496.hp1 HG02559.hp2 HG02647.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0044 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0069	4	110	0.0364	12	c.410 others(31): Show c.410+52320_410+52331dupAAATAAATAAAT	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM117_chr12_43831081_44394758	44011659	T T	TATACATA others(5): Show TATACATACATAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG01169.hp2 others(21): Show HG00741.hp1 HG01167.hp2 HG01169.hp2 HG01884.hp2 HG01981.hp1 HG02258.hp1 HG02451.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG03130.hp1 HG03491.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 others(21): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0047 a0001c0001t0002g0064 a0001c0001t0002g0104 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0095	24	110	0.2182	12	c.410 others(31): Show c.410+67325_410+67336dupCATACATACATA	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM117_chr12_43831081_44394758	44017233	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02886.hp2 HG03098.hp1 others(4): Show HG01192.hp2 HG02886.hp2 HG03098.hp1 HG03209.hp1 HG03540.hp2 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0015 a0001c0001t0002g0042 a0001c0001t0002g0049 others(4): Show a0001c0001t0002g0015 a0001c0001t0002g0042 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0104 a0001c0001t0006g0080	7	110	0.0636	12	c.410 others(31): Show c.410+72899_410+72910dupGTGTGTGTGTGT	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM117_chr12_43831081_44394758	44090839	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	110	0.0091	12	c.411 others(31): Show c.411-52677_411-52676insTTTTTTTTTTTT	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM117_chr12_43831081_44394758	44203095	T T	TTTGTTGT others(5): Show TTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01261.hp2 HG01884.hp2 others(4): Show HG01071.hp2 HG01261.hp2 HG01884.hp2 HG02717.hp2 HG03098.hp1 HG03130.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0101 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0101 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0047	7	110	0.0636	12	c.511 others(29): Show c.511-8180_511-8169dupGTTGTTGTTGTT	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM117_chr12_43831081_44394758	44226501	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01168.hp2 HG01169.hp1 others(13): Show HG01071.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03098.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0002g0015 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0085 a0001c0001t0003g0016 a0001c0001t0003g0103	16	110	0.1455	12	c.608 others(31): Show c.608+15126_608+15137dupGTGTGTGTGTGT	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM117_chr12_43831081_44394758	44253835	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03579.hp2 NA19240.hp2 HG03098.hp1 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0042 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0042	3	110	0.0273	12	c.608 others(31): Show c.608+42479_608+42490dupACACACACACAC	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM117_chr12_43831081_44394758	44276908	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	110	0.0091	12	c.609 others(31): Show c.609-22658_609-22647dupGTGTGTGTGTGT	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM117_chr12_43831081_44394758	44332712	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	110	0.0091	12	c.768 others(31): Show c.768+32999_768+33010dupCACACACACACA	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM119_chr12_108584851_108603084	108587327	T T	TTTATTAT others(5): Show TTTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02723.hp1 others(1): Show HG01243.hp1 HG02055.hp1 HG02723.hp1 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0020 a0001c0007t0003 a0001c0004t0020 a0001c0007t0003	a0001c0004t0020g0067 a0001c0007t0003g0012 a0001c0004t0020g0067 a0001c0007t0003g0012	4	444	0.0090	12	c.42 others(23): Show c.4204_*4205insTAATAATAATAA	TMEM119	ENSG00000183160.9	transcript	ENST00000392806.4	protein_coding		2523		chr12	TogoVar
TMEM11_chr17_21192954_21219161	21199328	G G	GAAAAAAA others(5): Show GAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01167.hp2 HG01169.hp2 others(21): Show HG01069.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01261.hp2 HG01361.hp2 HG01981.hp1 HG02738.hp1 HG03704.hp2 HG03942.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18955.hp2 NA18961.hp1 NA18967.hp1 NA18972.hp1 NA18972.hp2 NA18993.hp2 NA18994.hp1 NA19000.hp2 NA19010.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0037 others(11): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0128 a0001c0001t0001g0171 a0001c0001t0001g0188	24	422	0.0569	12	c.63- others(25): Show c.63-500_63-489dupTTTTTTTTTTTT	TMEM11	ENSG00000178307.10	transcript	ENST00000317635.6	protein_coding	1/1			chr17	TogoVar
TMEM120A_chr7_75981831_75999595	75988684	G G	GGTGGGGG others(5): Show GGTGGGGGGTGGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18983.hp1 HG06807.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0161 a0001c0001t0001g0142 a0001c0001t0001g0161	2	368	0.0054	12	c.378 others(27): Show c.378-169_378-168insTCCACCCCCCAC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75999491	T T	TTGTGTAT others(5): Show TTGTGTATGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	368	0.0027	12	c.-49 others(23): Show c.-4922_-4921insCACACATACACA	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding		4897		chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75999551	G G	GTGTGTGT others(5): Show GTGTGTGTGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	368	0.0027	12	c.-49 others(23): Show c.-4982_-4981insTATACACACACA	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding		4957		chr7	TogoVar
TMEM120B_chr12_121707752_121787068	121707799	T T	TACACACA others(5): Show TACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG03471.hp1 HG03579.hp2 HG01099.hp1 HG03471.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0002c0002t0003 a0001c0001t0010 a0002c0002t0003	a0001c0001t0010g0032 a0002c0002t0003g0084 a0002c0002t0003g0085 a0001c0001t0010g0032 a0002c0002t0003g0084 a0002c0002t0003g0085	3	314	0.0096	12	c.-50 others(23): Show c.-5097_-5096insACACACACACAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding		4952		chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121769715	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02056.hp2 HG02083.hp2 others(6): Show HG00642.hp2 HG02056.hp2 HG02083.hp2 HG02698.hp1 HG03579.hp1 HG03831.hp1 NA19005.hp1 NA19005.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0002c0002t0004 others(3): Show a0001c0001t0005 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0008 a0002c0002t0016	a0001c0001t0005g0042 a0001c0001t0005g0171 a0002c0002t0001g0189 others(6): Show a0001c0001t0005g0042 a0001c0001t0005g0171 a0002c0002t0001g0189 a0002c0002t0001g0213 a0002c0002t0001g0239 a0002c0002t0004g0246 a0002c0002t0007g0191 a0002c0002t0008g0309 a0002c0002t0016g0286	9	314	0.0287	12	c.552 others(29): Show c.552-1181_552-1170dupGTGTGTGTGTGT	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM121_chr14_105521583_105535198	105521599	T T	TTCTTTCT others(5): Show TTCTTTCTTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG04184.hp1 HG03239.hp2 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0001 a0002c0002t0002g0002 a0001c0001t0001g0001 a0002c0002t0002g0002	2	352	0.0057	12	c.-51 others(23): Show c.-5168_-5167insTCTTTCTTTCTC	TMEM121	ENSG00000184986.12	transcript	ENST00000392519.7	protein_coding		4983		chr14	TogoVar

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