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
STAM2_chr2_152111801_152180763	152160908	A A	ATCCGGGA others(169): Show ATCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAAGGTGGTGGGGGGG TCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0266 a0001c0001t0001g0267	2	360	0.0056	176	c.41- others(193): Show c.41-10680_41-10679insCGGGGCGGCTGGCCAGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGAC CCCCCCACCACCTTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGA	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STOML3_chr13_38960925_38995831	38988455	A A	ATCATATA others(169): Show ATCATATATTTTATATATAATATATTATATTTTATATCATATATTTTATA TATAATATATTATATTTTATATCATATATTTTATATATAATATATTATAT TTATATCTATATTTTTATATATAATATATTATATTTTATATCATATATTT TATATATAATATATTATATTTTATAAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	396	0.0025	176	c.52+ others(191): Show c.52+2214_52+2215insATTATAAAATATAATATATTATATATAAAA TATATGATATAAAATATAATATATTATATATAAAAATATAGATATAAATA TAATATATTATATATAAAATATATGATATAAAATATAATATATTATATAT AAAATATATGATATAAAATATAATATATTATATATAAAATATATGA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STXBP3_chr1_108741674_108814523	108771824	C C	CTATATAT others(169): Show CTATATATCATATATAAATACATATGATATCTATATATCATATATAAATA CATATGATATCTATATATCATATATAAATACATATGATATCTATATATCA TATATAAATACATATGATATCTATATATCATATATAAATACATATGATAT CTATATATCATATATAAATACATATGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	334	0.0030	176	c.439 others(191): Show c.439-838_439-837insATATCATATATAAATACATATGATATCTAT ATATCATATATAAATACATATGATATCTATATATCATATATAAATACATA TGATATCTATATATCATATATAAATACATATGATATCTATATATCATATA TAAATACATATGATATCTATATATCATATATAAATACATATGATAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771858	C C	CTATATAT others(169): Show CTATATATCATATATAAATACATATGATATCTATATATCATATATAAATA CATATGATATCTATATATCATATATAAATACATATGATATCTATATATCA TATATAAATACATATGATATCTATATATCATATATAAATACATATGATAT CTATATATCATATATAAATACATATGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	334	0.0030	176	c.439 others(191): Show c.439-804_439-803insATATCATATATAAATACATATGATATCTAT ATATCATATATAAATACATATGATATCTATATATCATATATAAATACATA TGATATCTATATATCATATATAAATACATATGATATCTATATATCATATA TAAATACATATGATATCTATATATCATATATAAATACATATGATAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUCLG2_chr3_67369719_67659612	67444097	C C	CGGGAGGG others(169): Show CGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCAGCCCGGCCAGCCACCCCGTCCAGGAGGGAGATGGGGGGGTCAGC CCTCCCACCCGGCCAGCCGCCCCGTCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0233 a0002c0002t0004g0233	1	280	0.0036	176	c.106 others(197): Show c.1063-43247_1063-43246insAGACGGGGCGGCTGGCCGGGTGGG AGGGCTGACCCCCCCATCTCCCTCCTGGACGGGGTGGCTGGCCGGGCTGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTC CC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUFU_chr10_102498972_102638535	102637701	A A	AATATAAT others(169): Show AATATAATTATATATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	268	0.0037	176	c.75 others(187): Show c.7546_*7547insATATAATTATATATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4167		chr10	TogoVar
SULT1B1_chr4_69716167_69765620	69762350	A A	ATCCGGGA others(169): Show ATCCGGGAAGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA19057.hp2 NA18964.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0002 a0001c0001t0009g0240 a0001c0001t0002g0002 a0001c0001t0009g0240	2	408	0.0049	176	c.-19 others(187): Show c.-1937_-1936insCGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCTTCCCGGA	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1731		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGTC others(169): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGG TGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02451.hp2 HG02486.hp1 others(4): Show HG01109.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02896.hp1 HG02976.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 others(4): Show a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0135 a0001c0001t0143	a0001c0001t0078g0229 a0001c0001t0080g0083 a0001c0001t0081g0230 others(4): Show a0001c0001t0078g0229 a0001c0001t0080g0083 a0001c0001t0081g0230 a0001c0001t0082g0084 a0001c0001t0084g0086 a0001c0001t0135g0085 a0001c0001t0143g0082	7	408	0.0172	176	c.-19 others(187): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCA CCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGTCA others(169): Show GGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGT GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0075 a0001c0001t0012g0075	1	408	0.0025	176	c.-19 others(187): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(169): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTGTGTGTATATATACGTGTATATATATATACGTGTGTATAT ATACGTGTGTGTATATATATACGTGTGTATATATACGTGTGTGTATATAT ATACGTGTGTATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0041 a0001c0001t0010g0041	1	392	0.0026	176	c.271 others(193): Show c.271-3774_271-3773insTACACACACGTATATATACACACGTATA TATATACACACACGTATATATACACACGTATATATATACACACACGTATA TATACACACGTATATATATATACACGTATATATACACACACACGTATATA TATACACGTATATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SWAP70_chr11_9659077_9757993	9671625	T T	TTTCTATG others(169): Show TTTCTATGTATACATAGAAATATATAAATATATTTCTATGTATACATAGA AATATATAAATATATTTCTATGTATACATAGAAATATATAAATATATTTC TATGTATACATAGAAATATATAAATATATTTCTATGTATACATAGAAATA TATAAATATATTTCTATGTATACATAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0263 a0001c0003t0010g0263	1	294	0.0034	176	c.99+ others(191): Show c.99+7347_99+7348insTTCTATGTATACATAGAAATATATAAATAT ATTTCTATGTATACATAGAAATATATAAATATATTTCTATGTATACATAG AAATATATAAATATATTTCTATGTATACATAGAAATATATAAATATATTT CTATGTATACATAGAAATATATAAATATATTTCTATGTATACATAG	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11			chr11	TogoVar
SYNJ2BP_chr14_70361499_70422090	70412509	C C	CAGTATAT others(169): Show CAGTATATATATGTATGTATAGTATATATACAGTATATATACAGTATATA TGTATGTATAGTATATATACAGTATATATATGTATGTATAGTATATATAC AGTATATATATGTATGTATAGTATATATACAGTATATATGTATGTATAGT ATATATACAGTATATATATGTATGTAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	364	0.0028	176	c.64+ others(191): Show c.64+4390_64+4391insATACATACATATATATACTGTATATATACT ATACATACATATATACTGTATATATACTATACATACATATATATACTGTA TATATACTATACATACATATATATACTGTATATATACTATACATACATAT ATACTGTATATATACTGTATATATACTATACATACATATATATACT	SYNJ2BP	ENSG00000213463.5	transcript	ENST00000256366.6	protein_coding	1/3			chr14	TogoVar
TAF4_chr20_61969798_62070881	61978413	C C	CACCAACC others(169): Show CACCAACCAAGGGAGGGCGCGACACCAACCAAGGGAGGGCGCGACACCAA CCAAGGGAGGGCGCGACACCAACCAAGGGAGGGCGCGACACCAACCAAGG GAGGGCGCGAGACCAACCAAGGGAGGGCGCGAGACCAACCAAGGGAGGGC GCGAGACCAACCAAGGGAGGGCGCGAG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0017 a0003c0007t0001g0017	1	314	0.0032	176	c.309 others(195): Show c.3091-2079_3091-2078insCTCGCGCCCTCCCTTGGTTGGTCTCG CGCCCTCCCTTGGTTGGTCTCGCGCCCTCCCTTGGTTGGTCTCGCGCCCT CCCTTGGTTGGTGTCGCGCCCTCCCTTGGTTGGTGTCGCGCCCTCCCTTG GTTGGTGTCGCGCCCTCCCTTGGTTGGTGTCGCGCCCTCCCTTGGTTGGT	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TANC2_chr17_62961235_63432703	62996974	T T	TGGCTAAT others(169): Show TGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCTACCACGCCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	266	0.0038	176	c.-23 others(195): Show c.-23-12543_-23-12542insTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBATA_chr10_70766238_70790377	70767620	A A	AAGAAAGA others(169): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGA AAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAA GAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	410	0.0024	176	c.37 others(187): Show c.3755_*3756insCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCT CTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding		3617		chr10	TogoVar
TBATA_chr10_70766238_70790377	70767660	A A	AAGAAAGA others(169): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAGAAAGAAAGAAA GAAGAAAGAAAGAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0032 a0002c0003t0001g0032	1	410	0.0024	176	c.37 others(187): Show c.3715_*3716insCTTTCTTTCTTTCTTCTTTCTTTCTTCTTTCTTT CTTTCTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding		3577		chr10	TogoVar
TBC1D16_chr17_79927343_80040872	79929962	C C	CTCCCCTC others(169): Show CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCTCTCCC CTCTCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCCC CTCCCCTCTCCTCTCCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0254 a0001c0001t0009g0254	1	334	0.0030	176	c.10 others(189): Show c.10896_*10897insAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAG GAGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GAGAGGGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGGGAG AGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2380		chr17	TogoVar
TCF25_chr16_89868592_89916379	89907612	A A	ACCTCCCT others(169): Show ACCTCCCTCCTCCCAGTTCCCCACCTCCCAGTTCCCACCTCCCTCCTCCC TCCTCTCAGCTCCCGGCTCCCACCTCCCAGTTCCCACCTCCCAGCTCCCA CCTCCCTCCTCCCTCCTCTCAGCTCCCGGCTCCCACCTCCCAGTTCCCAC CTCCCAGCTCCCACCTCCCTCCTCCCT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	300	0.0033	176	c.179 others(193): Show c.1799+296_1799+297insTCCTCCCAGTTCCCCACCTCCCAGTTCC CACCTCCCTCCTCCCTCCTCTCAGCTCCCGGCTCCCACCTCCCAGTTCCC ACCTCCCAGCTCCCACCTCCCTCCTCCCTCCTCTCAGCTCCCGGCTCCCA CCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCTCCTCCCTCCTCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF3_chr19_1604292_1657615	1628838	C C	CAGGGGGT others(169): Show CAGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACAGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACGGGGGTGAG GCGGGAAGGGGACAGTAGAGCTCACAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0160 a0003c0006t0001g0160	1	352	0.0028	176	c.299 others(193): Show c.299-1413_299-1412insCTGTGAGCTCTACTGTCCCCTTCCCGCC TCACCCCCGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCTGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
THADA_chr2_43225851_43601038	43297530	G G	GCCATCCG others(169): Show GCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0010 a0007c0007t0002g0010	1	206	0.0049	176	c.443 others(195): Show c.4439-4318_4439-4317insGGCGGCTGGCCGGGCGGGGGGCCGAC CCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43297815	G G	GGGAGGTG others(169): Show GGGAGGTGGGGGGGTCAGCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0033 a0005c0004t0001g0034 a0005c0004t0001g0033 a0005c0004t0001g0034	2	206	0.0097	176	c.443 others(195): Show c.4439-4603_4439-4602insATCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCCCCCCACCTCC	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43297815	G G	GGGAGGTG others(169): Show GGGAGGTGGGGGGGTCGGCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01081.hp2 others(14): Show HG00735.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01346.hp1 HG02055.hp1 HG02622.hp1 HG02622.hp2 HG02886.hp1 HG02895.hp2 HG03041.hp1 HG03471.hp1 HG03471.hp2 HG03927.hp1 NA20129.hp2	a0001 a0005 a0006 others(4): Show a0001 a0005 a0006 a0008 a0011 a0022 a0025	a0001c0027 a0005c0004 a0006c0008 others(5): Show a0001c0027 a0005c0004 a0006c0008 a0006c0010 a0008c0031 a0011c0017 a0022c0025 a0025c0038	a0001c0027t0003 a0005c0004t0001 a0006c0008t0001 others(5): Show a0001c0027t0003 a0005c0004t0001 a0006c0008t0001 a0006c0010t0001 a0008c0031t0001 a0011c0017t0001 a0022c0025t0001 a0025c0038t0001	a0001c0027t0003g0001 a0005c0004t0001g0035 a0005c0004t0001g0036 others(14): Show a0001c0027t0003g0001 a0005c0004t0001g0035 a0005c0004t0001g0036 a0005c0004t0001g0037 a0005c0004t0001g0038 a0005c0004t0001g0039 a0005c0004t0001g0041 a0005c0004t0001g0042 a0006c0008t0001g0047 a0006c0008t0001g0048 a0006c0008t0001g0058 a0006c0008t0001g0059 a0006c0010t0001g0088 a0008c0031t0001g0161 a0011c0017t0001g0063 a0022c0025t0001g0065 a0025c0038t0001g0064	17	206	0.0825	176	c.443 others(195): Show c.4439-4603_4439-4602insATCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCCGACCCCCCCACCTCC	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43297815	G G	GGGAGGTG others(169): Show GGGAGGTGGGGGGGTCGGCCTCCTGCCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0024 a0024	a0024c0023 a0024c0023	a0024c0023t0001 a0024c0023t0001	a0024c0023t0001g0162 a0024c0023t0001g0162	1	206	0.0049	176	c.443 others(195): Show c.4439-4603_4439-4602insATCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCAGGCAGGAGGCCGACCCCCCCACCTCC	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
TM4SF1_chr3_149364022_149382649	149380522	G G	GGGGGGGG others(169): Show GGGGGGGGTCACCTCCCCGCCCGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGG GCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCAGCCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	434	0.0023	176	c.-29 others(187): Show c.-2976_-2975insACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC CTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCGGGCGGGGAGGTGACCCCCCC	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2874		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380522	G G	GGGGGGGG others(169): Show GGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGAGGGAGGTG GGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGG GCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCAGCCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	434	0.0023	176	c.-29 others(187): Show c.-2976_-2975insACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC CTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCC CTCCGGACGGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCC	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2874		chr3	TogoVar
TMC1_chr9_72516608_72843297	72840508	G G	GGGGCGGC others(169): Show GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCTCCCCACCTCCCTCCCGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02896.hp2 NA20129.hp1 others(1): Show HG01243.hp2 HG02896.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0003t0007 a0002c0002t0001 a0001c0001t0002 a0001c0003t0007 a0002c0002t0001	a0001c0001t0002g0130 a0001c0003t0007g0180 a0001c0003t0007g0181 others(1): Show a0001c0001t0002g0130 a0001c0003t0007g0180 a0001c0003t0007g0181 a0002c0002t0001g0078	4	182	0.0220	176	c.45 others(187): Show c.4535_*4536insGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACC	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding		2212		chr9	TogoVar
TMC1_chr9_72516608_72843297	72840602	C C	CGGGGGGC others(169): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCTCCCCACCTCCCTCCCGGACCGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0099 a0001c0001t0006g0099	1	182	0.0055	176	c.46 others(187): Show c.4629_*4630insGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACCGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGT	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding		2306		chr9	TogoVar
TMEM132B_chr12_125181386_125667369	125307743	T T	TAAGTATA others(169): Show TAAGTATATATATGTTATATAAGTATATATATACTTGCAATATAAGTATA TATACTTGTAATATACTTGTATTATAAGTATACTTATATTACAAGTATAT ATACTTATAATACAAGTATATTACAAGTATATATACTTATATTGCAAGTA TATATACTTATAATACAAGTATATTAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0013 a0002c0001t0013	a0002c0001t0013g0019 a0002c0001t0013g0019	1	128	0.0078	176	c.68- others(193): Show c.68-41698_68-41697insTGTTATATAAGTATATATATACTTGCAA TATAAGTATATATACTTGTAATATACTTGTATTATAAGTATACTTATATT ACAAGTATATATACTTATAATACAAGTATATTACAAGTATATATACTTAT ATTGCAAGTATATATACTTATAATACAAGTATATTACAAGTATATATA	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129088415	G G	GGGGTGTC others(169): Show GGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTGTCCTCTATGA CCGGGGCGTCCTCCATGACCGGGGCGTCCTCTATGACCGGGGCGTCCTCC ATGACCGGGGCGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCC TCTATGACCGGGGTGTCCTCCATGACC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	94	0.0106	176	c.144 others(195): Show c.1444-3714_1444-3713insGGTCATGGAGGACACCCCGGTCATAG AGGACACCCCGGTCATGGAGGACACCCGGTCATGGAGGACGCCCCGGTCA TGGAGGACGCCCCGGTCATAGAGGACGCCCCGGTCATGGAGGACGCCCCG GTCATAGAGGACACCCGGTCATGGAGGACACCCGGTCATGGAGGACACCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM202_chr15_72393305_72413367	72396806	C C	CGGGAGGT others(169): Show CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCA GCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG03041.hp1 HG03453.hp2 others(1): Show HG02809.hp2 HG03041.hp1 HG03453.hp2 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0022 a0002c0003t0002g0030 a0002c0003t0002g0061 a0002c0003t0002g0022 a0002c0003t0002g0030 a0002c0003t0002g0061	4	396	0.0101	176	c.-15 others(187): Show c.-1521_-1520insGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCT	TMEM202	ENSG00000187806.9	transcript	ENST00000341689.4	protein_coding		1498		chr15	TogoVar
TMEM65_chr8_124301189_124377701	124302055	T T	TATATATA others(169): Show TATATATATTCTTTTATATATATATATTCTTTTATATATATTTATATATA TTCTTTATATATATAAATATATATTCTTTTATATATATTTATATATATAA CTATATATTCTTTTATATATATTTATAAATATATATTCTTTTATATATAT TTATAAATCTTTTATATATATTTATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0335 a0001c0001t0065g0335	1	348	0.0029	176	c.11 others(189): Show c.11904_*11905insTTATAAATATATATAAAAGATTTATAAATATA TATAAAAGAATATATATTTATAAATATATATAAAAGAATATATAGTTATA TATATAAATATATATAAAAGAATATATATTTATATATATAAAGAATATAT ATAAATATATATAAAAGAATATATATATATAAAAGAATATATAT	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		4133		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302587	T T	TTATATAT others(169): Show TTATATATTTATATATAAATATATATTCTTTTATTTATATATAAATATAT ATTCTTTTATATATTTATATATAAATATATATTCTTTTATTTATATATAA ATATATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATAT TTATATATAAATATATATTCTTTTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG02071.hp2 others(8): Show HG00558.hp1 HG00673.hp1 HG02071.hp2 HG02129.hp2 HG02683.hp2 NA18747.hp2 NA18975.hp1 NA18983.hp1 NA19054.hp1 NA19065.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0027 a0001c0001t0002 a0001c0001t0016 a0001c0001t0027	a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0187 others(8): Show a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0187 a0001c0001t0002g0192 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0236 a0001c0001t0016g0333 a0001c0001t0027g0145	11	348	0.0316	176	c.11 others(189): Show c.11372_*11373insTATAAAAGAATATATATTTATATATAAATATA TAAAAGAATATATATTTATATATAAATATATAAAAGAATATATATTTATA TATAAATAAAAGAATATATATTTATATATAAATATATAAAAGAATATATA TTTATATATAAATAAAAGAATATATATTTATATATAAATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3601		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302619	A A	ATATATAA others(169): Show ATATATAAATATATATTCTTTTATATATATATAAATATATATTCTTTTAT ATATATATAAATATATATTCTTTTATATATATATAAATATATATTCTTTT ATATATATATAAATATATATTCTTTTATATATATATAAATATATATTCTT TTATATATATATAAATATATATTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0002 a0001c0001t0012g0002	1	348	0.0029	176	c.11 others(189): Show c.11340_*11341insAAAGAATATATATTTATATATATATAAAAGAA TATATATTTATATATATATAAAAGAATATATATTTATATATATATAAAAG AATATATATTTATATATATATAAAAGAATATATATTTATATATATATAAA AGAATATATATTTATATATATATAAAAGAATATATATTTATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3569		chr8	TogoVar
TMTC2_chr12_82681906_83139866	82876039	G G	GTGGTGGT others(169): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGAT TAGTATTCATAATGGTGGTGGTGGTGGTGGTGGTGGTATTAGTAATGGTG GTGGTGGTGGTGGTGGTGGTGATGATGGTGATTAGTATTCATAATGGTGG TGGTGGTGGTGGTGGTGGTATTAGTAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	96	0.0104	176	c.654 others(195): Show c.654+18488_654+18489insGTGGTGATGGTGATGGTGATTAGTAT TCATAATGGTGGTGGTGGTGGTGGTGGTGGTATTAGTAATGGTGGTGGTG GTGGTGGTGGTGGTGATGATGGTGATTAGTATTCATAATGGTGGTGGTGG TGGTGGTGGTGGTATTAGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTG	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNFRSF12A_chr16_3015368_3027383	3016815	T T	TTTTTTTT others(169): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACGCCCGGCTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 NA18906.hp1 HG02809.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	414	0.0048	176	c.-35 others(187): Show c.-3583_-3582insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAA	TNFRSF12A	ENSG00000006327.14	transcript	ENST00000326577.9	protein_coding		3552		chr16	TogoVar
TRAF3IP1_chr2_238315518_238405897	238397658	A A	AGGCCCTG others(169): Show AGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCC TGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGC AGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGC AGAGGTGGGGGGTAGTAATGGGGAGGG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04228.hp2 HG04199.hp2 HG04228.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0267 a0007c0009t0001g0289 a0007c0009t0001g0267 a0007c0009t0001g0289	2	338	0.0059	176	c.191 others(193): Show c.1910+135_1910+136insGGGGGTAGTAATGGGGAGGGGGCCCTGC AGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGG AGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGA GGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTG	TRAF3IP1	ENSG00000204104.12	transcript	ENST00000373327.5	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAF6_chr11_36478769_36515272	36507665	G G	GTATATAC others(169): Show GTATATACGTATACATGTGTACACATGTATATACGTATACATGTGTACAC ATGTATATACGTATACATGTGTACACATGTATATACGTATACATGTGTAC ACATGTATATACGTATACATGTGTACACATGTATATACGTATACATGTGT ACACATGTATGTATGTGTATATATGTA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01256.hp2 HG01346.hp1 others(13): Show HG00621.hp1 HG01256.hp2 HG01346.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp1 HG02148.hp2 HG02257.hp2 NA18939.hp1 NA18945.hp1 NA18959.hp1 NA18961.hp1 NA18977.hp1 NA18983.hp1 NA19003.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0030 a0001c0001t0050	a0001c0001t0003g0045 a0001c0001t0003g0069 a0001c0001t0003g0070 others(10): Show a0001c0001t0003g0045 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0305 a0001c0001t0003g0313 a0001c0001t0005g0006 a0001c0001t0006g0017 a0001c0001t0006g0067 a0001c0001t0006g0073 a0001c0001t0006g0074 a0001c0001t0030g0312 a0001c0001t0050g0068	16	388	0.0412	176	c.-23 others(193): Show c.-23+2382_-23+2383insTACATATATACACATACATACATGTGTA CACATGTATACGTATATACATGTGTACACATGTATACGTATATACATGTG TACACATGTATACGTATATACATGTGTACACATGTATACGTATATACATG TGTACACATGTATACGTATATACATGTGTACACATGTATACGTATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM16_chr17_15622966_15689311	15637256	C C	CGGGAGGT others(169): Show CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCA GCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCTCCGCCCGGCCAGCCGCCCCATCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0005 a0003c0014t0005	a0003c0014t0005g0109 a0003c0014t0005g0109	1	360	0.0028	176	c.616 others(191): Show c.616-988_616-987insAGATGGGGCGGCTGGCCGGGCGGAGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGA CCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	TRIM16	ENSG00000221926.13	transcript	ENST00000649191.2	protein_coding	8/11			chr17	TogoVar
TRIM46_chr1_155168849_155189970	155189147	C C	CTGGGGGG others(169): Show CTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTG ACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGG GGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGC CTGCTCTCCGGGGCCGAGGTGACACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	348	0.0029	176	c.49 others(187): Show c.4957_*4958insTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTG TCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGC CGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTG GAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCG	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4178		chr1	TogoVar
TRPC4AP_chr20_34997404_35097807	35097452	T T	TATACACG others(169): Show TATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACA CGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGTG TGTATATACATATACACGCGTGTGTATATACATATACACGCGTGCGTATA TACATATACACGCGTGCGTATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0251 a0001c0001t0003g0251	1	334	0.0030	176	c.-46 others(187): Show c.-4672_-4671insGTATATATACGCACGCGTGTATATGTATATACGC ACGCGTGTATATGTATATACACACGCGTGTATATGTATATACACACGCGT GTATATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATAT GTATATACACACGCGTGTATATGTATATACACACGCGTGTAT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4646		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097573	A A	ATATATAC others(169): Show ATATATACACATATACATATACACGCGTGCGTGTATATACATATACACGC GTGCGTGTATATACATATACACGCGTGCGTGTATATACATATACACGCGT GCGTGTATATACATATACACGCGTGCGTGTATATACATATACACGCGTGC GTGTATATACATATACACGCGTGCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	334	0.0030	176	c.-47 others(187): Show c.-4793_-4792insCACGCACGCGTGTATATGTATATACACGCACGCG TGTATATGTATATACACGCACGCGTGTATATGTATATACACGCACGCGTG TATATGTATATACACGCACGCGTGTATATGTATATACACGCACGCGTGTA TATGTATATACACGCACGCGTGTATATGTATATGTGTATATA	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4767		chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53415694	T T	TTATATAT others(169): Show TTATATATGTGTGTGTGCATATGTGTGTACACATGTTCATGCCTGTGTAC TATATATGTGTATGTGTAGTAAAACATTATATATGTGTATATACATCTAT GTATGTGCATGTGTGTATATGTGTGTGCACGTGTGCATGCTTGTGTACTT TATATGTATATGTGTAGTGAAACATGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0028 a0001c0001t0031g0028	1	174	0.0058	176	c.9- others(193): Show c.9-71445_*9-71444insATGTGTGTGTGCATATGTGTGTACACAT GTTCATGCCTGTGTACTATATATGTGTATGTGTAGTAAAACATTATATAT GTGTATATACATCTATGTATGTGCATGTGTGTATATGTGTGTGCACGTGT GCATGCTTGTGTACTTTATATGTATATGTGTAGTGAAACATGATATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSNARE1_chr8_142207080_142408182	142226969	G G	GGCAGTAA others(169): Show GGCAGTAATAGCCAGGCCCCCCACTGCACCCACACAGCAGTGACAGCCAA GCCCCCCACTGCACCCACACAGCAGTGACAGCCAAGCCCCCCACTGCACC CACAACCCCAGTGACAGCCAGGACCACCACTGCACCCACACGGCAGTAAT AGCCAGGCCCCCCACTGCACCCACACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 NA18747.hp1 HG00423.hp1 HG00544.hp2 NA18747.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0205 a0008c0008t0002g0206 a0008c0008t0002g0207 a0008c0008t0002g0205 a0008c0008t0002g0206 a0008c0008t0002g0207	3	238	0.0126	176	c.11 others(193): Show c.11+2503_*11+2504insTGTGTGGGTGCAGTGGGGGGCCTGGCTA TTACTGCCGTGTGGGTGCAGTGGTGGTCCTGGCTGTCACTGGGGTTGTGG GTGCAGTGGGGGGCTTGGCTGTCACTGCTGTGTGGGTGCAGTGGGGGGCT TGGCTGTCACTGCTGTGTGGGTGCAGTGGGGGGCCTGGCTATTACTGC	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	13/13			chr8	TogoVar
TTC28_chr22_27973014_28684840	28537293	A A	AAAAATAA others(169): Show AAAAATAAAATAAAATAAAATAAAATAACATAAATAAAATAAAATAAATA AAATAAAATAAAATAAAATAAAATAAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02080.hp1 HG00408.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0016 a0001c0001t0006g0022 a0001c0001t0003g0016 a0001c0001t0006g0022	2	196	0.0102	176	c.381 others(195): Show c.381+92258_381+92259insATTTTATTTTATTTTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTTATTTTATTTTATTTTATTTTATT TTATTTATTTTATTTTATTTATGTTATTTTATTTTATTTTATTTTATTTT	TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	2/22			chr22	TogoVar
TTYH3_chr7_2626986_2669802	2627487	T T	TGGAGGGA others(169): Show TGGAGGGAGGGAGGAAAAGATGGAGGGAGGGAGGAAAAGATGGAGGGAGG GAGGAAAAGATGGAGGGAGGGAGGAAAAGATGGAGGGAGGGAGGAAAAGA TGGAGGGAGGGAGGAAAAGATGGAGGGAGGGAAGAAAAGATGGAGGGAGG GAGGAAAAGATGGAGGGAGGGAGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0177 a0001c0001t0015g0177	1	402	0.0025	176	c.-46 others(187): Show c.-4669_-4668insGGAGGGAGGGAGGAAAAGATGGAGGGAGGGAGGA AAAGATGGAGGGAGGGAGGAAAAGATGGAGGGAGGGAGGAAAAGATGGAG GGAGGGAGGAAAAGATGGAGGGAGGGAGGAAAAGATGGAGGGAGGGAAGA AAAGATGGAGGGAGGGAGGAAAAGATGGAGGGAGGGAGGAAA	TTYH3	ENSG00000136295.16	transcript	ENST00000258796.12	protein_coding		4498		chr7	TogoVar
TUBB2B_chr6_3219277_3232653	3222101	C C	CTACCACT others(169): Show CTACCACTACCATCATAATTACCACCACCATCACCACCACCACCACCACT ATCACCATCATCACCACCACCACCACCACCACTAGCACAACCACAACACT ACCACATCACCACCACCACTACCACTACTACCATCACCATCACCACCACC ATCACCACCACCACCACAATACTACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18983.hp2 NA18994.hp2 NA18945.hp2 NA18983.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	3	360	0.0083	176	c.26 others(187): Show c.2649_*2650insTGGTAGTATTGTGGTGGTGGTGGTGATGGTGGTG GTGATGGTGATGGTAGTAGTGGTAGTGGTGGTGGTGATGTGGTAGTGTTG TGGTTGTGCTAGTGGTGGTGGTGGTGGTGGTGATGATGGTGATAGTGGTG GTGGTGGTGGTGATGGTGGTGGTAATTATGATGGTAGTGGTA	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		2175		chr6	TogoVar
U2SURP_chr3_142996570_143065725	143031423	G G	GCCCTAAC others(169): Show GCCCTAACCTTCAGCTACCACCACCCTAACCTTCAGCTACCACCACCCTA ACCTTCAGCTACCACCACCCTAACCTTCAGCTACCACCACCCTAACCTTC AGCTACCACCACCCTAACCTTCAGCTACCACCACCCTAACCTTCAGCTAC CACCACCCTAACCTTCAGCTACCACCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01070.hp2 HG01256.hp2 others(2): Show HG00639.hp1 HG01070.hp2 HG01256.hp2 HG01258.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0101 others(2): Show a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103	5	378	0.0132	176	c.161 others(195): Show c.1611-1313_1611-1312insAACCTTCAGCTACCACCACCCTAACC TTCAGCTACCACCACCCTAACCTTCAGCTACCACCACCCTAACCTTCAGC TACCACCACCCTAACCTTCAGCTACCACCACCCTAACCTTCAGCTACCAC CACCCTAACCTTCAGCTACCACCACCCTAACCTTCAGCTACCACCACCCT	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	16/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATG others(169): Show CACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATATGTGTGTGTATACGCATACACACACATATA TGTGTGTGTATACGCATACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	320	0.0031	176	c.-38 others(187): Show c.-3864_-3863insACATATGTGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGC ATACACACACATATATGTGTGTGTATACGCATACACACATAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
UBTD1_chr10_97493924_97576206	97528626	A A	ACTCCCCC others(169): Show ACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCAACCTCCCTCCCGGACG GGGCGGCTCGCCTGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp1 HG02818.hp1 HG02486.hp2 HG02809.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0189 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0189	3	314	0.0096	176	c.70+ others(193): Show c.70+29353_70+29354insCTCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGTGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGAC CCCCAACCTCCCTCCCGGACGGGGCGGCTCGCCTGGCGGGGGGCTGAC	UBTD1	ENSG00000165886.5	transcript	ENST00000370664.4	protein_coding	1/2			chr10	TogoVar
UBTD1_chr10_97493924_97576206	97528626	A A	ACTCCCCC others(169): Show ACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCAACCTCCCTCCCGGACG GGGCGGCTTGCCTGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18970.hp1 HG02132.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	314	0.0064	176	c.70+ others(193): Show c.70+29353_70+29354insCTCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGTGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGAC CCCCAACCTCCCTCCCGGACGGGGCGGCTTGCCTGGCGGGGGGCTGAC	UBTD1	ENSG00000165886.5	transcript	ENST00000370664.4	protein_coding	1/2			chr10	TogoVar

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