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
SLC2A4RG_chr20_63734776_63749050	63747510	C C	CCAGGGGG others(172): Show CCAGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGCGGGGCAGGGGGTGAG CAGGGCCTGGTTGGGGTGGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGG TGGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGGCAGGGGG TGAGCAGGGCCTGGTTGGGGTGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	416	0.0024	179	c.45 others(190): Show c.4520_*4521insCAGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGC GGGGCAGGGGGTGAGCAGGGCCTGGTTGGGGTGGGGGGGGCAGGGGGTGA GCAGGGCCTGGTGGGTGGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGGT GGGGGGGGCAGGGGGTGAGCAGGGCCTGGTTGGGGTGGGGGGGGG	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3461		chr20	TogoVar
SLC2A5_chr1_9030106_9074635	9053455	A A	ATATATAT others(172): Show ATATATATTATATATATTATATATTTATATATTATATATATTTATATATA TTATATATTTATATATTATATATATTTATATATATTATATATTTATATAT TATATATATTTATATATATTATATATTTATATATTATATATATTTATATA TATTATATATATTTATATATATTATATATT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0244	1	336	0.0030	179	c.293 others(196): Show c.293+3992_293+3993insAATATATAATATATATAAATATATATAA TATATATAAATATATATAATATATAAATATATAATATATATAAATATATA TAATATATAAATATATAATATATATAAATATATATAATATATAAATATAT AATATATATAAATATATATAATATATAAATATATAATATATATAATATAT A	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SMIM14_chr4_39541336_39643865	39562810	A A	ATTTTTGT others(172): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18947.hp2 NA18972.hp1 others(1): Show HG03471.hp1 NA18947.hp2 NA18972.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0028 a0001c0001t0003 a0001c0001t0028	a0001c0001t0003g0092 a0001c0001t0003g0161 a0001c0001t0003g0202 others(1): Show a0001c0001t0003g0092 a0001c0001t0003g0161 a0001c0001t0003g0202 a0001c0001t0028g0048	4	344	0.0116	179	c.125 others(196): Show c.125-6241_125-6240insATTAGCCGGGCGTAGTGGCGGGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATACAAAA A	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	3/4			chr4	TogoVar
SMYD3_chr1_245744347_246512279	246402367	T T	TAACAACG others(172): Show TAACAACGCCATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG01081.hp2 others(2): Show HG00423.hp1 HG00544.hp2 HG01081.hp2 HG01109.hp2 HG01934.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0003t0002	a0001c0001t0001g0055 a0001c0001t0001g0089 a0001c0001t0002g0092 others(2): Show a0001c0001t0001g0055 a0001c0001t0001g0089 a0001c0001t0002g0092 a0001c0002t0001g0079 a0002c0003t0002g0131	5	150	0.0333	179	c.165 others(198): Show c.165-47274_165-47273insGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGCGTT GTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNX12_chrX_71054247_71073334	71071544	T T	TTATATAT others(172): Show TTATATATAAATATATAATATTATATATTATATATATAATATATAATATT TATATATTATATATATAATATATAATATTTATATATTATATATATAAATA TATAATATTTATATATTATATATATAAATATATAATATTTATATATTATA TATATAAATATATAATATTTATATATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG03209.hp1 HG02572.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	309	0.0065	179	c.-32 others(190): Show c.-3239_-3238insTAATATATATAAATATTATATATTTATATATATA ATATATAAATATTATATATTTATATATATAATATATAAATATTATATATT TATATATATAATATATAAATATTATATATTATATATATAATATATAAATA TTATATATTATATATATAATATATAATATTATATATTTATATATA	SNX12	ENSG00000147164.12	transcript	ENST00000374274.8	protein_coding		3211		chrX	TogoVar
SNX18_chr5_54512759_54551586	54514178	T T	TAAATTTA others(172): Show TAAATTTATATAATATATAAATATATATGATATATATAAATTTATATAAT ATATAAATATATATGATATATATAAATTTATATATATAAATATATATGAT ATATATAAATTTATATAATATATAAATATATATGATATATATAAATTTAT ATAATATATAAATATATATGATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19054.hp2 NA19002.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0006 a0001c0001t0024g0056 a0001c0001t0024g0006 a0001c0001t0024g0056	2	390	0.0051	179	c.-37 others(190): Show c.-3775_-3774insAAATTTATATAATATATAAATATATATGATATAT ATAAATTTATATAATATATAAATATATATGATATATATAAATTTATATAT ATAAATATATATGATATATATAAATTTATATAATATATAAATATATATGA TATATATAAATTTATATAATATATAAATATATATGATATATATAA	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		3580		chr5	TogoVar
SNX9_chr6_157818246_157950077	157827465	A A	ATATATAT others(172): Show ATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATA ATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAG TTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATA TATTATAGTTTATATAATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0261 a0001c0001t0004g0261	1	302	0.0033	179	c.12+ others(194): Show c.12+4019_12+4020insTATATATTATAGTTTATATAATATATAAAT ATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAAT ATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTT TATATAATATATAAATATATATTATAGTTTATATAATATATAAATATAT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(172): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02965.hp2 HG04199.hp1 HG02572.hp1 HG02965.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0136 a0001c0003t0003g0264 a0001c0003t0003g0268 a0001c0001t0001g0136 a0001c0003t0003g0264 a0001c0003t0003g0268	3	302	0.0099	179	c.12+ others(194): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(172): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATATTATATAAACATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0286 a0001c0003t0003g0286	1	302	0.0033	179	c.12+ others(194): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAACATATATTATAGTTTATATATTATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SORCS2_chr4_7187538_7747827	7449180	T T	TCCCTCCT others(172): Show TCCCTCCTCTCCTCTTCCCCTCCTCCTCCTCCTCTCTCTTCCTCCCTCCT CTTCCCTCCCTCCCTCCCTCCCTCTCCTCCCTCTCCTTCTCCCTCCCTCC CTCCCTTCCCTCCCTCCCTCCTCTCCTCTCCTCTCCCTCCTCCCTCCCTT CCTCCCTCCTTCCTCCCTCCCTCCTCCTTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0054 a0001c0006t0001g0054	1	168	0.0060	179	c.548 others(198): Show c.548+52825_548+52826insCCCTCCTCTCCTCTTCCCCTCCTCCT CCTCCTCTCTCTTCCTCCCTCCTCTTCCCTCCCTCCCTCCCTCCCTCTCC TCCCTCTCCTTCTCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCTCTCCT CTCCTCTCCCTCCTCCCTCCCTTCCTCCCTCCTTCCTCCCTCCCTCCTCC TTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SP100_chr2_230411201_230550606	230499512	A A	ATATATAT others(172): Show ATATATATAGATAGATATATATTTTTATATATATATTTATATATATAAAT ATATATAGATAGATATATATCTATCTATATATATTTATATATATAAATAT ATATATTTATTTTTTTATATATATATCTATATATTTATTTCCTTTGGCTA TGAATTCCCCCACTAGAATGGCAGAAGCAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0124 a0001c0003t0004g0124	1	290	0.0035	179	c.172 others(196): Show c.1720+978_1720+979insATATATAGATAGATATATATTTTTATAT ATATATTTATATATATAAATATATATAGATAGATATATATCTATCTATAT ATATTTATATATATAAATATATATATTTATTTTTTTATATATATATCTAT ATATTTATTTCCTTTGGCTATGAATTCCCCCACTAGAATGGCAGAAGCAG T	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(172): Show CCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCA CCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTC CCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 NA18941.hp1 HG01993.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	418	0.0048	179	c.54 others(190): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(172): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCTCCTCCCA CCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTC CCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	179	c.54 others(190): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(172): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCA CCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTC CCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG00673.hp2 others(14): Show HG00323.hp1 HG00621.hp2 HG00673.hp2 HG01257.hp2 HG01258.hp1 HG02071.hp1 HG02129.hp2 HG02300.hp1 HG04228.hp2 NA18943.hp1 NA18978.hp1 NA18983.hp2 NA18997.hp2 NA18998.hp1 NA19077.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0043 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0060 a0001c0001t0018g0044	17	418	0.0407	179	c.54 others(190): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(172): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCA CCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTC CCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02976.hp1 NA19082.hp1 others(1): Show HG02572.hp2 HG02976.hp1 NA19082.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0005 a0001c0001t0001g0001 a0001c0001t0004g0005	4	418	0.0096	179	c.54 others(190): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(172): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGACGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGAGGGGAGGGGGAGGGGG AGGGGAGGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	260	0.0039	179	c.138 others(198): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCCTCCCCTCCTCCCCTCCCCTCCCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCGTCCCCTCCCCTCCCATCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTC CCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPRING1_chr12_116705171_116743069	116733346	T T	TTAATTTT others(172): Show TTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 HG03195.hp1 others(1): Show HG01243.hp2 HG02622.hp2 HG03195.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0032 a0001c0001t0014 a0001c0001t0032	a0001c0001t0014g0047 a0001c0001t0032g0048 a0001c0001t0014g0047 a0001c0001t0032g0048	4	362	0.0111	179	c.111 others(196): Show c.111+4443_111+4444insGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATT A	SPRING1	ENSG00000111412.6	transcript	ENST00000261318.5	protein_coding	1/4			chr12	TogoVar
SRP68_chr17_76033785_76077517	76062552	A A	ATATACAT others(172): Show ATATACATTATATATTATATAATATACATTATATATTATATAATATACAT TATATATTATATAATATACATTATATATTATATAATATACATTATATATT ATATAATATACATTATATATATAATATATAATATACATTATATATTATAT AATATACATTATACATTATATAATATACAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	365	0.0027	179	c.562 others(194): Show c.562-979_562-978insATGTATATTATATAATGTATAATGTATATT ATATAATATATAATGTATATTATATATTATATATATAATGTATATTATAT AATATATAATGTATATTATATAATATATAATGTATATTATATAATATATA ATGTATATTATATAATATATAATGTATATTATATAATATATAATGTATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SULT1B1_chr4_69716167_69765620	69762358	G G	GGGGGGGG others(172): Show GGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTG AGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0072 a0001c0001t0019g0072	1	408	0.0025	179	c.-19 others(190): Show c.-1945_-1944insTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACC TCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1739		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGGG others(172): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG03139.hp2 HG01884.hp2 HG02572.hp1 HG03139.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0116 a0001c0001t0134 a0004c0005t0111 a0001c0001t0116 a0001c0001t0134 a0004c0005t0111	a0001c0001t0116g0282 a0001c0001t0134g0277 a0004c0005t0111g0278 a0001c0001t0116g0282 a0001c0001t0134g0277 a0004c0005t0111g0278	3	408	0.0074	179	c.-19 others(190): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGGT others(172): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGG GTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp2 HG04204.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0032 a0001c0001t0008 a0001c0001t0032	a0001c0001t0008g0112 a0001c0001t0032g0067 a0001c0001t0008g0112 a0001c0001t0032g0067	2	408	0.0049	179	c.-19 others(190): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCT CACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762432	C C	CCCTACTG others(172): Show CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAG GAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01516.hp1 HG01891.hp2 others(3): Show HG01243.hp1 HG01516.hp1 HG01891.hp2 HG03098.hp1 HG03195.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0018 a0001c0001t0147 a0001c0001t0006 a0001c0001t0018 a0001c0001t0147	a0001c0001t0006g0007 a0001c0001t0018g0012 a0001c0001t0018g0132 others(1): Show a0001c0001t0006g0007 a0001c0001t0018g0012 a0001c0001t0018g0132 a0001c0001t0147g0272	6	408	0.0147	179	c.-20 others(190): Show c.-2019_-2018insAGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCTGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1813		chr4	TogoVar
TBC1D16_chr17_79927343_80040872	79929999	T T	TCCTCCCC others(172): Show TCCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCTCCTCTCCTCCCCTC CCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCCTCC CCTCTCCTCTCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCCTCTCC CTCCTCTCCCCTCTCCTCCCCTCCTCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0190 a0001c0001t0091g0190	1	334	0.0030	179	c.10 others(192): Show c.10859_*10860insGGGAGAGGAGGGGAGGAGAGGGGAGAGGAGGG AGAGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGAGAGGGG AGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGA GGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGGGAGAGGAGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2343		chr17	TogoVar
TENT5A_chr6_81740730_81757681	81740739	A A	ACATATTA others(172): Show ACATATTATATACTATATAATATGTATCATATTATATACTATATAATATG TATCATATTATATACTATATAATATGTATCATATTATATACTATATAATA TGTATATTATATACTATATAATATGTTACATATTATATACTATATAATAT GTATCATATTATATACTATATAATATGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0032 a0003c0003t0032	a0003c0003t0032g0071 a0003c0003t0032g0071	1	446	0.0022	179	c.89 others(190): Show c.8955_*8956insATACATATTATATAGTATATAATATGATACATAT TATATAGTATATAATATGTAACATATTATATAGTATATAATATACATATT ATATAGTATATAATATGATACATATTATATAGTATATAATATGATACATA TTATATAGTATATAATATGATACATATTATATAGTATATAATATG	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4990		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81740896	C C	CATATTAT others(172): Show CATATTATATACTATATAATATGTATCATATTATATACTATATAATATGT ATCATATTATATACTATATAATATGTATCATATTATATACTATATAATAT GTATCATATTATATACTATATAATATGTATCATATTATATAGTATATAAT ATGTATCATATTATATACTATATAATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0004 a0001c0005t0002g0004	1	446	0.0022	179	c.87 others(190): Show c.8798_*8799insACATATTATATAGTATATAATATGATACATATTA TATACTATATAATATGATACATATTATATAGTATATAATATGATACATAT TATATAGTATATAATATGATACATATTATATAGTATATAATATGATACAT ATTATATAGTATATAATATGATACATATTATATAGTATATAATAT	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4833		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81740896	C C	CATATTAT others(172): Show CATATTATATACTATATAATATGTATCATATTATATACTATATAATATGT ATCATATTATATACTATATAATATGTATCATATTATATACTATATAATAT GTATCATATTATATAGTATATAATATGTATCATATTATATACTATATAAT ATGTATCATATTATATACTATATAATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0004 a0001c0005t0002g0004	1	446	0.0022	179	c.87 others(190): Show c.8798_*8799insACATATTATATAGTATATAATATGATACATATTA TATAGTATATAATATGATACATATTATATACTATATAATATGATACATAT TATATAGTATATAATATGATACATATTATATAGTATATAATATGATACAT ATTATATAGTATATAATATGATACATATTATATAGTATATAATAT	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4833		chr6	TogoVar
TERT_chr5_1248167_1300068	1273062	C C	CCAACCGC others(172): Show CCAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCCATGACCAACCACCATCTAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACCACATCAGACCCCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	392	0.0026	179	c.228 others(196): Show c.2287-783_2287-782insTGGGGTCTGATGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTAGATGGTGGTTGGTCATGGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTT G	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	377214	G G	GCCCCACC others(172): Show GCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGT GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCCCCCT GTGCCCCACCCAGCCTCTCCCCCTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0001 a0003c0004t0004g0001	1	370	0.0027	179	c.-12 others(190): Show c.-1245_-1244insGCACACAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGAGAGGCTGGGTGGGGCACACGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG GGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1189		chr19	TogoVar
THEG_chr19_356747_381026	377283	C C	CCCCTCTG others(172): Show CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTC TCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCCTGTGCCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0156 a0005c0015t0001g0156	1	370	0.0027	179	c.-13 others(190): Show c.-1314_-1313insAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGG CTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGGCACAGAGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1258		chr19	TogoVar
THSD4_chr15_71110471_71788383	71768926	G G	GCTGCCCG others(172): Show GCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCC CCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02895.hp2 HG01346.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0002 a0001c0001t0013 a0001c0002t0002	a0001c0001t0013g0097 a0001c0002t0002g0018 a0001c0001t0013g0097 a0001c0002t0002g0018	2	116	0.0172	179	c.277 others(198): Show c.2770-2095_2770-2094insAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCC TGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTC	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71768926	G G	GCTGCCCG others(172): Show GCTGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCC CCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01361.hp1 HG01496.hp2 others(13): Show HG01169.hp2 HG01361.hp1 HG01496.hp2 HG02451.hp1 HG02451.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA19043.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0016 a0002c0005	a0001c0001t0002 a0001c0001t0010 a0001c0001t0018 others(10): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0018 a0001c0001t0028 a0001c0002t0005 a0001c0003t0002 a0001c0003t0004 a0001c0004t0005 a0001c0004t0008 a0001c0006t0005 a0001c0016t0002 a0002c0005t0002 a0002c0005t0019	a0001c0001t0002g0075 a0001c0001t0002g0102 a0001c0001t0010g0053 others(13): Show a0001c0001t0002g0075 a0001c0001t0002g0102 a0001c0001t0010g0053 a0001c0001t0018g0115 a0001c0001t0028g0009 a0001c0002t0005g0045 a0001c0002t0005g0103 a0001c0003t0002g0079 a0001c0003t0004g0112 a0001c0004t0005g0100 a0001c0004t0005g0109 a0001c0004t0008g0051 a0001c0006t0005g0068 a0001c0016t0002g0072 a0002c0005t0002g0044 a0002c0005t0019g0003	16	116	0.1379	179	c.277 others(198): Show c.2770-2125_2770-2124insTGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGC	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
TIMM22_chr17_992129_1008671	993858	C C	CCTCACAT others(172): Show CCTCACATAATCCACCTCACATAATCCACCCCTCACATAACCCACCCTCA CATAATCCACCTCACATAATCCGCCCTCACATAATCCACCCTCACATAAT CCACCCTCACGTAATCCACCTCACATAATCCACCTCGCATAATCCACCCA CCCTCACATAATCCACACTCACATAATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02896.hp1 HG01891.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	2	439	0.0046	179	c.-32 others(190): Show c.-3285_-3284insCTCACATAATCCACCTCACATAATCCACCCCTCA CATAACCCACCCTCACATAATCCACCTCACATAATCCGCCCTCACATAAT CCACCCTCACATAATCCACCCTCACGTAATCCACCTCACATAATCCACCT CGCATAATCCACCCACCCTCACATAATCCACACTCACATAATCCA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3270		chr17	TogoVar
TINAGL1_chr1_31571515_31592686	31578434	G G	GGTGTGTG others(172): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGATGTCTTCAGTTATAGTTTAAT TTCAGTGAGAGCTGGTATGTGTGTGTGTGTGTGTGATGTCTTCAGTTATA GCTTAATTTCAGTGAGAGCTGGTATGTGTGTGTGTGTGTGTGATGCCTTC AGTTATAGTTTAATTTTAGTGACAGCTGGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0273	1	440	0.0023	179	c.311 others(194): Show c.311-745_311-744insTGATGTCTTCAGTTATAGTTTAATTTCAGT GAGAGCTGGTATGTGTGTGTGTGTGTGTGATGTCTTCAGTTATAGCTTAA TTTCAGTGAGAGCTGGTATGTGTGTGTGTGTGTGTGATGCCTTCAGTTAT AGTTTAATTTTAGTGACAGCTGGTGTGTGTGTGTGTGTGTGTGTGTGTG	TINAGL1	ENSG00000142910.16	transcript	ENST00000271064.12	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
TM4SF1_chr3_149364022_149382649	149380457	G G	GGCCGCCC others(172): Show GGCCGCCCCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGCGGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCC CATCCGGGAGGTGAGGGGCGCCTCTGCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	179	c.-29 others(190): Show c.-2911_-2910insTGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGC GGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCCGCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGC	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2809		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380522	G G	GGGGGGGG others(172): Show GGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGGAGGTGA GGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCAGCCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	179	c.-29 others(190): Show c.-2976_-2975insACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC CTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCC	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2874		chr3	TogoVar
TMEM132D_chr12_129066726_129909025	129089390	C C	CGGGTGTC others(172): Show CGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACGGGAGTGTCTTCTCT GACCGGGGCGTCCTCCCTGACCGAGGTGTCCTCCATGACCGAGGGGTCCT CCCTGACCGGGGTGTCCTCCCTGACCGGGTGTCCTCCCTGACCGGGGCGT CCTCCATGACCGGGGCGTCCTCCCTGACCG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0023 a0001c0002t0004g0023	1	94	0.0106	179	c.144 others(198): Show c.1444-4689_1444-4688insCGGTCAGGGAGGACGCCCCGGTCATG GAGGACGCCCCGGTCAGGGAGGACACCCGGTCAGGGAGGACACCCCGGTC AGGGAGGACCCCTCGGTCATGGAGGACACCTCGGTCAGGGAGGACGCCCC GGTCAGAGAAGACACTCCCGTCATGGAGGACACCCCGGTCATGGAGGACA CCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129399123	G G	GTGATAAC others(172): Show GTGATAACCAAACCACTTCTGCAGTAGCTAACCCATTCCCACAACAACCA ACCCATTCCCACGACAACCAACCCACTCCTGCAATAGCTAACCCACTCCC ATGATAACCAACCCACTCCTGCAATAGCTAACCCACTCCCACAAAAACCA ACTACTTCTTCAATAGCTTATCCACTCCCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02647.hp1 others(3): Show HG02145.hp1 HG02451.hp1 HG02647.hp1 HG02809.hp1 HG03453.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0002c0003t0026	a0001c0001t0001g0083 a0001c0001t0003g0032 a0001c0001t0006g0067 others(3): Show a0001c0001t0001g0083 a0001c0001t0003g0032 a0001c0001t0006g0067 a0001c0001t0007g0014 a0001c0001t0010g0034 a0002c0003t0026g0093	6	94	0.0638	179	c.111 others(200): Show c.1116-61307_1116-61306insTGGGAGTGGATAAGCTATTGAAGA AGTAGTTGGTTTTTGTGGGAGTGGGTTAGCTATTGCAGGAGTGGGTTGGT TATCATGGGAGTGGGTTAGCTATTGCAGGAGTGGGTTGGTTGTCGTGGGA ATGGGTTGGTTGTTGTGGGAATGGGTTAGCTACTGCAGAAGTGGTTTGGT TATCA	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	3/8			chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474830	A A	AGTGAGGG others(172): Show AGTGAGGGGGTGAGGGGGTGAAGGCGTGAGTGAGGAGGTGAGGGGATGAG TGAGGGGGTGAGGGGGTGAGGGGATGAGTGAGGGGGTGAGGGGGTGAGGG GATGAGTGAGGGGGTGAGGGGGTGAGGGGTGAGTGAGGGGGCGAGGGGGT GAGGGAGGAGGTGAGGGGGTGAGTGAGGAG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0106 a0002c0003t0004g0106	1	382	0.0026	179	c.728 others(196): Show c.728-1335_728-1334insCTCCTCACTCACCCCCTCACCTCCTCCC TCACCCCCTCGCCCCCTCACTCACCCCTCACCCCCTCACCCCCTCACTCA TCCCCTCACCCCCTCACCCCCTCACTCATCCCCTCACCCCCTCACCCCCT CACTCATCCCCTCACCTCCTCACTCACGCCTTCACCCCCTCACCCCCTCA C	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TP53AIP1_chr11_128930370_128947871	128930619	C C	CCAGGGTT others(172): Show CCAGGGTTAGGGAGGCCGGGGTTAAGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGGCCGGGGTTAGGGAGCCCGGGGTTAGGGAGGCTGGGGTTAG GGAGGCCGGGGTTAGGGAGCCCGGGGTTAGGGAGGCTGGGGTTAGGGAGG CCAGGGTTAGGGAGGCCGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0038 a0002c0002t0008g0038	1	466	0.0022	179	c.49 others(190): Show c.4971_*4972insCCTCCCTAACCCCGGCCTCCCTAACCCTGGCCTC CCTAACCCCAGCCTCCCTAACCCCGGGCTCCCTAACCCCGGCCTCCCTAA CCCCAGCCTCCCTAACCCCGGGCTCCCTAACCCCGGCCTCCCTAACCCCA GCCTCCCTAACCCCGGCCTCCTTAACCCCGGCCTCCCTAACCCTG	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4750		chr11	TogoVar
TRAPPC12_chr2_3374694_3484565	3437768	T T	TCACCCCA others(172): Show TCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACC CCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCACCCCTGG ATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAAT ACCCCATCACCCCTGGATTAATCCCCCCAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00735.hp2 others(8): Show HG00323.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01433.hp2 HG02738.hp1 HG03017.hp1 HG03491.hp2 HG04115.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0009 a0002c0018 others(2): Show a0002c0002 a0002c0009 a0002c0018 a0002c0021 a0005c0037	a0002c0002t0001 a0002c0009t0001 a0002c0009t0002 others(4): Show a0002c0002t0001 a0002c0009t0001 a0002c0009t0002 a0002c0018t0001 a0002c0018t0002 a0002c0021t0002 a0005c0037t0002	a0002c0002t0001g0207 a0002c0009t0001g0240 a0002c0009t0002g0071 others(8): Show a0002c0002t0001g0207 a0002c0009t0001g0240 a0002c0009t0002g0071 a0002c0009t0002g0072 a0002c0009t0002g0122 a0002c0018t0001g0246 a0002c0018t0002g0084 a0002c0018t0002g0121 a0002c0018t0002g0123 a0002c0021t0002g0194 a0005c0037t0002g0073	11	344	0.0320	179	c.141 others(198): Show c.1418-6005_1418-6004insAGGATTAATACCCCATCACCCCTGGA TTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAAT CCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCC ATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCAC CCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRDN_chr6_123211339_123641950	123266205	T T	TTATATAT others(172): Show TTATATATAGTAATATATATTATATATTATATGTATTATATATAATTATA TGTAATATGTATTATATATTATGATATGTATTATATATAATATATATATT ATGATATGTATTATATATAATATATATATTATGATATGTATTATATATAA TATATATATTATGATATGTATTATATATAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18747.hp2 HG01106.hp1 NA18747.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0003 a0004c0006t0003 a0001c0001t0003 a0004c0006t0003	a0001c0001t0003g0025 a0004c0006t0003g0082 a0001c0001t0003g0025 a0004c0006t0003g0082	2	152	0.0132	179	c.178 others(196): Show c.1784-868_1784-867insTTATATATAATACATATCATAATATATA TATTATATATAATACATATCATAATATATATATTATATATAATACATATC ATAATATATATATTATATATAATACATATCATAATATATAATACATATTA CATATAATTATATATAATACATATAATATATAATATATATTACTATATAT A	TRDN	ENSG00000186439.15	transcript	ENST00000334268.9	protein_coding	32/40			chr6	TogoVar
TTC3_chr21_37068254_37208107	37122422	A A	ATATATAT others(172): Show ATATATATATATTATATATATAATATATATATTATATATATATAATATAT ATATATTATATATATATAATATATATATATATTATATATATAATATATAT ATTATATATATATAATATATATATATATTATATATATATAATATATATAT ATATTATATATATATAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0013 a0001c0004t0003g0013	1	340	0.0029	179	c.106 others(196): Show c.1063+454_1063+455insTATATATATAATATATATATTATATATA TATAATATATATATATTATATATATATAATATATATATATATTATATATA TAATATATATATTATATATATATAATATATATATATATTATATATATATA ATATATATATATATTATATATATATAATATATATATATATTATATATATA T	TTC3	ENSG00000182670.14	transcript	ENST00000418766.6	protein_coding	12/45		INFO_REALIGN_3_PRIME	chr21	TogoVar
TUBB2B_chr6_3219277_3232653	3222131	C C	CCACCACC others(172): Show CCACCACCACACTACCACATCACCACCACCACCACCATTACCACCACCAC CACCACCACTATCACCATCATCACCATCACCACCATCACCACTACCACCA CCACCACCACCACACTACCACATCACCACCACCACCACCATTACCACCAC CACCACCACCACTATCACCATCATCACCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	360	0.0028	179	c.26 others(190): Show c.2619_*2620insATGGTGATGATGGTGATAGTGGTGGTGGTGGTGG TGGTAATGGTGGTGGTGGTGGTGATGTGGTAGTGTGGTGGTGGTGGTGGT GGTAGTGGTGATGGTGGTGATGGTGATGATGGTGATAGTGGTGGTGGTGG TGGTGGTAATGGTGGTGGTGGTGGTGATGTGGTAGTGTGGTGGTG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		2145		chr6	TogoVar
TUBGCP5_chr15_22994177_23044569	23043571	A A	ACACCTGG others(172): Show ACACCTGGCCAGAGGTGCTTGGGGACTTCATAACCACAGCTGGCCAGAGG TGCCAGGGGGGACATCATAACCACACCTGGCCAGAGGTGCCGGGGCGACT TCATAACCACACCTGGCCAGAGGTGCTGGGGTACTTCACAACCGCACCTG GCCAGAGGTGCCGGGAGGACTTCATAACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18983.hp2 NA18612.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0091 a0001c0002t0002g0003 a0001c0002t0002g0091	2	351	0.0057	179	c.-40 others(190): Show c.-4029_-4028insGGGTTATGAAGTCCTCCCGGCACCTCTGGCCAGG TGCGGTTGTGAAGTACCCCAGCACCTCTGGCCAGGTGTGGTTATGAAGTC GCCCCGGCACCTCTGGCCAGGTGTGGTTATGATGTCCCCCCTGGCACCTC TGGCCAGCTGTGGTTATGAAGTCCCCAAGCACCTCTGGCCAGGTG	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4003		chr15	TogoVar
TWIST2_chr2_238843085_238915534	238870806	C C	CACACCAC others(172): Show CACACCACACCCCACACACACCACACACCACACACACACCACACACACAT CACATACCACACACAAACCACACACCACACACACACCACACACCCTACAC ACCCCACACACACCACACACACCACACCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACCCCAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03139.hp1 HG03927.hp2 others(1): Show HG02818.hp1 HG03139.hp1 HG03927.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0013 a0001c0001t0002g0185 a0001c0001t0003g0257 others(1): Show a0001c0001t0001g0013 a0001c0001t0002g0185 a0001c0001t0003g0257 a0001c0001t0004g0325	4	338	0.0118	179	c.35 others(198): Show c.35+22077_*35+22078insCACACCCCACACACACCACACACCAC ACACACACCACACACACATCACATACCACACACAAACCACACACCACACA CACACCACACACCCTACACACCCCACACACACCACACACACCACACCCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACCCCATA CAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870806	C C	CACACCAC others(172): Show CACACCACACCCCACACACACCACACACCACACACACACCACACACACAT CACATACCACACACAAACCACACACCACACACACACCACACACCCTACAC ACCCCACACACACCACACACACCACACTCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACCCCAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	338	0.0030	179	c.35 others(198): Show c.35+22077_*35+22078insCACACCCCACACACACCACACACCAC ACACACACCACACACACATCACATACCACACACAAACCACACACCACACA CACACCACACACCCTACACACCCCACACACACCACACACACCACACTCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACCCCATA CAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
U2SURP_chr3_142996570_143065725	143047275	A A	ACCCCCCC others(172): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCTGGCGGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0312 a0001c0001t0003g0312	1	378	0.0027	179	c.254 others(198): Show c.2545-3634_2545-3633insCGGCCTGGCGGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC GGC	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
UNC80_chr2_209766832_210004296	209903554	T T	TATATATA others(172): Show TATATATACTATATATATTATATATAGTATATATGTAATATATATACTAT ATATAGTATATATGTAATATATATACTATATATAGTATATATGTAATATA TATACTATATATAGTATATATGTAATATATATACTATATATAGTATATAT GTAATATATACTATATATAGTATATATGTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG02735.hp1 others(1): Show HG00738.hp2 HG01167.hp1 HG02735.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0134 a0001c0001t0002g0116 a0001c0001t0002g0129 others(1): Show a0001c0001t0001g0134 a0001c0001t0002g0116 a0001c0001t0002g0129 a0001c0002t0001g0098	4	188	0.0213	179	c.458 others(198): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATAGTATATATGTAATATATATACTATATATA GTATATATGTAATATATATACTATATATAGTATATATGTAATATATATAC TATATATAGTATATATGTAATATATACTATATATAGTATATATGTAATAT ATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UVRAG_chr11_75810210_76149232	75877562	A A	ACCCCCCC others(172): Show ACCCCCCCCCACCTCCCTCCCGTACGGGTCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGAGGCT CCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCTGG ACGGGGTGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18954.hp1 HG00438.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0002g0022 a0001c0001t0001g0013 a0001c0001t0002g0022	2	146	0.0137	179	c.271 others(196): Show c.271-2309_271-2308insCACCTCCCTCCCGTACGGGTCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGAGCGGCTGGCC GGGCAGAGAGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC CCTCACCTCCTGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCC C	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
VCX2_chrX_8164944_8176267	8169372	C C	CCCTCCCT others(172): Show CCCTCCCTCCCTCCCCACACACCCACTTCCTCCCTCCCTCCCTCCCTCCC CACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTCCTCCCTCCC TCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCACACACCACCTCT TCCTCCCTCCCTCCCCACACACCTCCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0005 a0002c0001t0002g0005	1	115	0.0087	179	c.65 others(188): Show c.659_*660insAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGG GAGGAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGGAGGAAGTGGGTGTGTGGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		571		chrX	TogoVar

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