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
TMEM120A_chr7_75981831_75999595	75989104	G G	GGGTGGAG others(37): Show GGGTGGAGGTTGAGGGGGGGGAGGGGTGGAGGTTGAGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18975.hp1 HG02809.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0117 a0001c0001t0001g0073 a0001c0001t0001g0117	2	325	0.0062	44	c.377 others(57): Show c.377+60_377+61insTCCCCCCCCTCAACCTCCACCCCTCCCCCCCC TCAACCTCCACC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120B_chr12_121707752_121787068	121747451	G G	GCACTGGG others(37): Show GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0292 a0002c0002t0008g0292	1	291	0.0034	44	c.189 others(59): Show c.189-874_189-873insACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGTC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747491	G G	GCACTGGG others(37): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0086 a0002c0002t0018g0086	1	238	0.0042	44	c.189 others(59): Show c.189-834_189-833insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747653	G G	GCTGGGGT others(37): Show GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	240	0.0042	44	c.189 others(59): Show c.189-660_189-659insTGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747753	G G	GCACTGGG others(37): Show GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0293 a0002c0002t0008g0293	1	267	0.0037	44	c.189 others(59): Show c.189-572_189-571insACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGTC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747767	C C	CGGGAGGC others(37): Show CGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0032 a0001c0001t0010g0032	1	254	0.0039	44	c.189 others(59): Show c.189-552_189-551insACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747895	G G	GCACTGGG others(37): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19074.hp1 NA18960.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0029 a0001c0001t0019g0034 a0001c0001t0019g0029 a0001c0001t0019g0034	2	231	0.0087	44	c.189 others(59): Show c.189-430_189-429insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGCGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747937	G G	GCACTGGG others(37): Show GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0270	1	252	0.0040	44	c.189 others(59): Show c.189-388_189-387insACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747979	G G	GCACTGGG others(37): Show GCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0083 a0001c0001t0101g0083	1	244	0.0041	44	c.189 others(59): Show c.189-346_189-345insACTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121748125	G G	GCACTGGG others(37): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19063.hp1 HG00423.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0099 a0001c0001t0007g0266 a0001c0001t0001g0099 a0001c0001t0007g0266	2	74	0.0270	44	c.189 others(59): Show c.189-200_189-199insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM121_chr14_105521583_105535198	105521599	T T	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	216	0.0046	44	c.-51 others(55): Show c.-5168_-5167insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTC	TMEM121	ENSG00000184986.12	transcript	ENST00000392519.7	protein_coding		4983		chr14	TogoVar
TMEM130_chr7_98841490_98875014	98842382	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	148	0.0068	44	c.56 others(55): Show c.5673_*5674insATATATATATATATATATATATATATATATATAT ATATATATAT	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding		4107		chr7	TogoVar
TMEM130_chr7_98841490_98875014	98842402	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp2 NA19060.hp1 HG00438.hp1 HG00544.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0256 a0001c0002t0004g0087 a0001c0002t0004g0257 a0001c0001t0004g0256 a0001c0002t0004g0087 a0001c0002t0004g0257	3	280	0.0107	44	c.56 others(55): Show c.5653_*5654insGTATATATATATATATATATATATATATATATAT ATATATATAT	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding		4087		chr7	TogoVar
TMEM132C_chr12_128262170_128712911	128294991	A A	ATAGATAG others(37): Show ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0007 a0007	a0007c0028 a0007c0028	a0007c0028t0001 a0007c0028t0001	a0007c0028t0001g0140 a0007c0028t0001g0140	1	102	0.0098	44	c.85+ others(61): Show c.85+27515_85+27516insATAGATAGATAGATAGATAGATAGATAG ATAGGTAGATAGATAG	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128315448	C C	CACGAGGG others(37): Show CACGAGGGAGCATCTGTGCCTGTCTCTCCCAGCTTCTGGTGGCCG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0011 a0010c0015t0011	a0010c0015t0011g0007 a0010c0015t0011g0007	1	168	0.0060	44	c.85+ others(61): Show c.85+47961_85+47962insACGAGGGAGCATCTGTGCCTGTCTCTCC CAGCTTCTGGTGGCCG	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	1/8			chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128338757	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG02622.hp1 HG02886.hp2	a0006 a0008 a0006 a0008	a0006c0017 a0008c0024 a0006c0017 a0008c0024	a0006c0017t0003 a0008c0024t0002 a0006c0017t0003 a0008c0024t0002	a0006c0017t0003g0064 a0008c0024t0002g0141 a0006c0017t0003g0064 a0008c0024t0002g0141	2	63	0.0317	44	c.85+ others(61): Show c.85+71290_85+71291insATATATATATATATATATATATATATAT ATATATATATATATAT	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128464790	A A	AAGAGAGA others(37): Show AAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 HG02896.hp2 others(1): Show HG02145.hp2 HG02723.hp2 HG02896.hp2 HG02922.hp1	a0003 a0006 a0008 others(1): Show a0003 a0006 a0008 a0011	a0003c0010 a0006c0017 a0008c0025 others(1): Show a0003c0010 a0006c0017 a0008c0025 a0011c0014	a0003c0010t0003 a0006c0017t0003 a0008c0025t0005 others(1): Show a0003c0010t0003 a0006c0017t0003 a0008c0025t0005 a0011c0014t0001	a0003c0010t0003g0067 a0006c0017t0003g0018 a0008c0025t0005g0012 others(1): Show a0003c0010t0003g0067 a0006c0017t0003g0018 a0008c0025t0005g0012 a0011c0014t0001g0116	4	123	0.0325	44	c.974 others(63): Show c.974+49176_974+49177insAAAGAGAGAAAGAGAGAAAGAGAGAA AGAGAGAAAGAGAGAGAG	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132E_chr17_34574582_34644318	34627466	T T	TCGTGTGT others(37): Show TCGTGTGTGCGTGCGCGCACGCGCGCGCGCGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0155 a0001c0001t0091g0155	1	402	0.0025	44	c.998 others(59): Show c.998+417_998+418insCGTGCGCGCACGCGCGCGCGCGCGCGCGCG CGCGCGCGTGTGTG	TMEM132E	ENSG00000181291.8	transcript	ENST00000631683.2	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
TMEM14A_chr6_52666113_52691588	52680669	G G	GTATATAT others(37): Show GTATATATATACATATATGTATATATATATATACATATATGTATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	278	0.0036	44	c.71- others(59): Show c.71-1134_71-1133insCATATATGTATATATATATATACATATATG TATATATATATATA	TMEM14A	ENSG00000096092.6	transcript	ENST00000211314.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM14A_chr6_52666113_52691588	52680669	G G	GTATATAT others(37): Show GTATATATATATACATATATGTATATATATATACATATATGTATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp1 HG00741.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	279	0.0072	44	c.71- others(59): Show c.71-1132_71-1131insCATATATGTATATATATATACATATATGTA TATATATATATATA	TMEM14A	ENSG00000096092.6	transcript	ENST00000211314.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM14A_chr6_52666113_52691588	52680669	G G	GTATATAT others(37): Show GTATATATATATATACATATATGTATATATATACATATATGTATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	278	0.0036	44	c.71- others(59): Show c.71-1112_71-1111insCATATATGTATATATATATATATATACATA TATGTATATATATA	TMEM14A	ENSG00000096092.6	transcript	ENST00000211314.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM14A_chr6_52666113_52691588	52680669	G G	GTATATAT others(37): Show GTATATATATATATACATATATGTATATATATATACATATATGTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03471.hp1 HG02818.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0089 a0001c0001t0001g0094	2	279	0.0072	44	c.71- others(59): Show c.71-1110_71-1109insCATATATGTATATATATATATATACATATA TGTATATATATATA	TMEM14A	ENSG00000096092.6	transcript	ENST00000211314.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM14A_chr6_52666113_52691588	52680704	T T	TACATATA others(37): Show TACATATATGTGTATATATATATATACATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp2 HG03139.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0081 a0001c0001t0001g0083	2	138	0.0145	44	c.71- others(59): Show c.71-1106_71-1105insTATATGTGTATATATATATATACATATATA TATATATATACACA	TMEM14A	ENSG00000096092.6	transcript	ENST00000211314.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM164_chrX_109998114_110182788	110017405	C C	CCTTTCTT others(37): Show CCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0181 a0001c0001t0005g0181	1	89	0.0112	44	c.390 others(63): Show c.390+13254_390+13255insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	TMEM164	ENSG00000157600.12	transcript	ENST00000372068.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
TMEM171_chr5_73115575_73136809	73127384	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	150	0.0067	44	c.641 others(61): Show c.641-1005_641-1004insAAAAAAAAAAAATATATATATATATATA TATATATATATATATA	TMEM171	ENSG00000157111.13	transcript	ENST00000454765.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
TMEM181_chr6_158555091_158640429	158636069	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0081 a0001c0001t0027g0081	1	151	0.0066	44	c.41 others(55): Show c.4181_*4182insTATATATATATATATATATATATATATTTTTTTT TTTTTTTTTT	TMEM181	ENSG00000146433.10	transcript	ENST00000684151.1	protein_coding		641		chr6	TogoVar
TMEM184A_chr7_1537235_1561205	1551185	C C	CGGTACCC others(37): Show CGGTACCCCTGCACAAGCCCAGGTGAGCCGGGAAGGAGGTGGGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02818.hp1 HG02257.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0004 a0001c0001t0018	a0001c0001t0004g0018 a0001c0001t0018g0119 a0001c0001t0004g0018 a0001c0001t0018g0119	2	373	0.0054	44	c.220 others(59): Show c.220-204_220-203insCCCCCACCTCCTTCCCGGCTCACCTGGGCT TGTGCAGGGGTACC	TMEM184A	ENSG00000164855.16	transcript	ENST00000297477.10	protein_coding	2/8			chr7	TogoVar
TMEM184A_chr7_1537235_1561205	1551185	C C	CGGTACCC others(37): Show CGGTACCCCTGCACCAGCCCAGGTGAGCCGGGAAGGAGGTGGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp2 HG02886.hp1 others(3): Show HG01243.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG03225.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0035 a0001c0001t0003 a0001c0001t0004 a0001c0001t0035	a0001c0001t0003g0117 a0001c0001t0004g0018 a0001c0001t0004g0104 others(2): Show a0001c0001t0003g0117 a0001c0001t0004g0018 a0001c0001t0004g0104 a0001c0001t0004g0118 a0001c0001t0035g0115	6	377	0.0159	44	c.220 others(59): Show c.220-204_220-203insCCCCCACCTCCTTCCCGGCTCACCTGGGCT GGTGCAGGGGTACC	TMEM184A	ENSG00000164855.16	transcript	ENST00000297477.10	protein_coding	2/8			chr7	TogoVar
TMEM185A_chrX_149591556_149636792	149605308	A A	ACTATGGC others(37): Show ACTATGGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0069 a0001c0001t0031g0069	1	186	0.0054	44	c.424 others(61): Show c.424-1282_424-1239dupAAAGTGACATGGGAGGCCATAGAAAGTG ACATGGGAGGCCATAG	TMEM185A	ENSG00000269556.9	transcript	ENST00000600449.8	protein_coding	3/6			chrX	TogoVar
TMEM185A_chrX_149591556_149636792	149605401	A A	AGCCTCCC others(37): Show AGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTTTCTATG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	241	0.0041	44	c.424 others(61): Show c.424-1332_424-1331insCATAGAAAGTGACATGGGAGGCCATAGA AAGTGACATGGGAGGC	TMEM185A	ENSG00000269556.9	transcript	ENST00000600449.8	protein_coding	3/6			chrX	TogoVar
TMEM185A_chrX_149591556_149636792	149605493	A A	ATGTCACT others(37): Show ATGTCACTTTCTATGGCCTCCCATGTCACTTTCTATGGCCTCCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19030.hp1 HG02280.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0029 a0001c0001t0009g0029	2	241	0.0083	44	c.424 others(61): Show c.424-1424_424-1423insAGGGAGGCCATAGAAAGTGACATGGGAG GCCATAGAAAGTGACA	TMEM185A	ENSG00000269556.9	transcript	ENST00000600449.8	protein_coding	3/6			chrX	TogoVar
TMEM199_chr17_28352647_28368683	28353520	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02040.hp2 HG03704.hp1 others(2): Show HG00544.hp2 HG02040.hp2 HG03704.hp1 NA18980.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0002 a0002c0003t0021 a0002c0002t0002 a0002c0003t0002 a0002c0003t0021	a0002c0002t0002g0002 a0002c0003t0002g0002 a0002c0003t0021g0002 a0002c0002t0002g0002 a0002c0003t0002g0002 a0002c0003t0021g0002	5	81	0.0617	44	c.-41 others(55): Show c.-4151_-4150insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	TMEM199	ENSG00000244045.13	transcript	ENST00000292114.8	protein_coding		4126		chr17	TogoVar
TMEM207_chr3_190423655_190454901	190424819	G G	GGCGAATT others(37): Show GGCGAATTGCTTCAACCTACCTGGAAGGTGGAGGTTGCAGTGCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG02809.hp1 HG02965.hp2 others(2): Show HG00099.hp2 HG02809.hp1 HG02965.hp2 HG03453.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0126 a0001c0001t0002g0213 a0001c0001t0002g0027 a0001c0001t0002g0126 a0001c0001t0002g0213	5	464	0.0108	44	c.47 others(55): Show c.4775_*4776insGTGCACTGCAACCTCCACCTTCCAGGTAGGTTGA AGCAATTCGC	TMEM207	ENSG00000198398.3	transcript	ENST00000354905.3	protein_coding		3835		chr3	TogoVar
TMEM221_chr19_17430509_17453668	17453089	T T	TAATATAT others(37): Show TAATATATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0048 a0001c0001t0007g0048	1	285	0.0035	44	c.-46 others(55): Show c.-4628_-4627insTATATATATATATATATATATATATATATATATA TATATATATT	TMEM221	ENSG00000188051.7	transcript	ENST00000341130.6	protein_coding		4422		chr19	TogoVar
TMEM232_chr5_110414496_110731671	110508886	G G	GTATATAT others(37): Show GTATATATGTATATATATAAAATTATATATATGTATATATATAAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG02895.hp1 others(4): Show HG01891.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp1 HG03195.hp1 HG03209.hp2 HG03579.hp1	a0005 a0013 a0005 a0013	a0005c0006 a0013c0016 a0005c0006 a0013c0016	a0005c0006t0004 a0013c0016t0004 a0005c0006t0004 a0013c0016t0004	a0005c0006t0004g0212 a0005c0006t0004g0213 a0005c0006t0004g0214 others(4): Show a0005c0006t0004g0212 a0005c0006t0004g0213 a0005c0006t0004g0214 a0005c0006t0004g0215 a0005c0006t0004g0218 a0013c0016t0004g0216 a0013c0016t0004g0217	7	248	0.0282	44	c.170 others(65): Show c.1703+19658_1703+19701dupATTATATATATACATATATATAAT TTTATATATATACATATATA	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	12/13			chr5	TogoVar
TMEM232_chr5_110414496_110731671	110705723	T T	TATACACA others(37): Show TATACACACACACACATATATGTGTGTGTATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp2 HG01109.hp1 others(7): Show HG00140.hp1 HG01069.hp2 HG01109.hp1 HG01261.hp1 HG01433.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG02027.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0001 a0001c0005t0002 a0002c0003t0002 a0001c0005t0001 a0001c0005t0002 a0002c0003t0002	a0001c0005t0001g0225 a0001c0005t0001g0229 a0001c0005t0001g0230 others(7): Show a0001c0005t0001g0225 a0001c0005t0001g0229 a0001c0005t0001g0230 a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0002g0232 a0002c0003t0002g0224 a0002c0003t0002g0226 a0002c0003t0002g0231 a0002c0003t0002g0233	10	203	0.0493	44	c.-13 others(63): Show c.-13+20903_-13+20904insGTATATATATATATATACACACACAT ATATGTGTGTGTGTGTAT	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	1/13			chr5	TogoVar
TMEM232_chr5_110414496_110731671	110721671	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0244 a0003c0004t0003g0244	1	181	0.0055	44	c.-13 others(61): Show c.-13+4955_-13+4956insTATATATATATATATATATATATATATA TATATATATATATATA	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	1/13			chr5	TogoVar
TMEM232_chr5_110414496_110731671	110721673	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp2 HG01192.hp1 others(14): Show HG01106.hp1 HG01175.hp2 HG01192.hp1 HG01515.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02148.hp1 HG02148.hp2 HG02572.hp2 HG04199.hp1 NA18944.hp1 NA18948.hp2 NA18963.hp1 NA19003.hp2 NA19064.hp1 NA19087.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0009 others(2): Show a0001c0001 a0001c0002 a0002c0009 a0002c0023 a0003c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0009t0009 a0002c0023t0002 a0003c0004t0003	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 others(14): Show a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0136 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0002t0001g0144 a0001c0002t0002g0032 a0001c0002t0002g0129 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0002c0009t0009g0098 a0002c0023t0002g0130 a0003c0004t0003g0243	17	32	0.5313	44	c.-13 others(61): Show c.-13+4953_-13+4954insTATATATATATATATATATATATATATA TATATATATATATATA	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	1/13			chr5	TogoVar
TMEM232_chr5_110414496_110731671	110721673	G G	GTGTATAT others(37): Show GTGTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00597.hp2 others(7): Show HG00099.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG02165.hp2 HG04184.hp1 NA18950.hp1 NA18986.hp1 NA19007.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0009 a0001c0001 a0001c0002 a0002c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0002c0009t0002	a0001c0001t0001g0029 a0001c0001t0001g0074 a0001c0001t0001g0075 others(7): Show a0001c0001t0001g0029 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0003g0073 a0001c0002t0002g0122 a0002c0009t0002g0192	10	25	0.4000	44	c.-13 others(61): Show c.-13+4953_-13+4954insTATATATATATATATATATATATATATA TATATATATATATACA	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	1/13			chr5	TogoVar
TMEM232_chr5_110414496_110731671	110721673	G G	GTGTGTAT others(37): Show GTGTGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	16	0.0625	44	c.-13 others(61): Show c.-13+4953_-13+4954insTATATATATATATATATATATATATATA TATATATATATACACA	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	1/13			chr5	TogoVar
TMEM242_chr6_157284025_157328519	157327858	A A	AAAATATA others(37): Show AAAATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 NA19009.hp2 HG03831.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0092 a0001c0001t0006g0098 a0001c0001t0004g0092 a0001c0001t0006g0098	2	3	0.6667	44	c.-43 others(55): Show c.-4360_-4359insATATATATATATATATATATATATATATATATAT ATATATATTT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding		4340		chr6	TogoVar
TMEM254_chr10_80073665_80097551	80093152	A A	AATATATA others(37): Show AATATATATTTTTATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA19080.hp1 HG00558.hp2 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0003	2	64	0.0313	44	c.22 others(55): Show c.2235_*2236insATATATATTTTTATATATATATATATATATATAT ATATATATAT	TMEM254	ENSG00000133678.14	transcript	ENST00000372281.8	protein_coding		602		chr10	TogoVar
TMEM254_chr10_80073665_80097551	80093152	A A	AATATATA others(37): Show AATATATATTTTTTTATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA19063.hp1 NA18955.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0009 a0001c0002t0003g0003 a0001c0002t0003g0009	2	64	0.0313	44	c.22 others(55): Show c.2235_*2236insATATATATTTTTTTATATATATATATATATATAT ATATATATAT	TMEM254	ENSG00000133678.14	transcript	ENST00000372281.8	protein_coding		602		chr10	TogoVar
TMEM272_chr13_51808347_51850177	51844203	T T	TATATATA others(37): Show TATATATATGTATATATATATGTGTGTATGTGTAGACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02896.hp1 HG02886.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0304 a0001c0001t0008g0284 a0001c0001t0003g0304 a0001c0001t0008g0284	2	287	0.0070	44	c.-24 others(59): Show c.-24+812_-24+813insGTGTGTGTGTCTACACATACACACATATAT ATATACATATATAT	TMEM272	ENSG00000281106.4	transcript	ENST00000629372.3	protein_coding	1/4			chr13	TogoVar
TMEM51_chr1_15148747_15225478	15192470	T T	TTTTTTTT others(37): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0040 a0001c0002t0005g0040	1	247	0.0040	44	c.-26 others(65): Show c.-266-18020_-266-18019insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTA	TMEM51	ENSG00000171729.14	transcript	ENST00000376008.3	protein_coding	1/3			chr1	TogoVar
TMEM63C_chr14_77176798_77264495	77229613	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA19043.hp1 HG00733.hp2 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0004 a0001c0006t0007 a0001c0005t0004 a0001c0006t0007	a0001c0005t0004g0183 a0001c0006t0007g0251 a0001c0005t0004g0183 a0001c0006t0007g0251	2	140	0.0143	44	c.351 others(61): Show c.351-1956_351-1955insTATATATATATATATATATATATATATA TATATATATATATATA	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM70_chr8_73971195_73987783	73976049	A A	AGGCGGCA others(37): Show AGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 NA19012.hp1 NA19056.hp1 others(1): Show HG00323.hp1 NA19012.hp1 NA19056.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	62	0.0645	44	c.-23 others(53): Show c.-233_-232insGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCGGGC GGCAGGCG	TMEM70	ENSG00000175606.11	transcript	ENST00000312184.6	protein_coding		145		chr8	TogoVar
TMEM94_chr17_75451635_75505452	75464676	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	180	0.0056	44	c.-10 others(63): Show c.-106-7121_-106-7120insCTTCCTTCCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	TMEM94	ENSG00000177728.17	transcript	ENST00000314256.12	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
TMEM98_chr17_32923153_32949315	32948022	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03471.hp2 HG02258.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0090 a0001c0001t0002g0002 a0001c0001t0002g0090	2	369	0.0054	44	c.70 others(55): Show c.7029_*7030insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCT	TMEM98	ENSG00000006042.12	transcript	ENST00000579849.6	protein_coding		3708		chr17	TogoVar
TMEM98_chr17_32923153_32949315	32948026	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02572.hp2 others(1): Show HG01891.hp2 HG02145.hp1 HG02572.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0008 a0001c0001t0003g0021 a0001c0001t0004g0003 others(1): Show a0001c0001t0002g0008 a0001c0001t0003g0021 a0001c0001t0004g0003 a0001c0001t0004g0043	4	375	0.0107	44	c.70 others(55): Show c.7033_*7034insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCT	TMEM98	ENSG00000006042.12	transcript	ENST00000579849.6	protein_coding		3712		chr17	TogoVar

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