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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SLC12A7_chr5_1045384_1117063	1061346	GCCGCACC others(83): Show GCCGCACCCGCCGTGCGGGATCCCTGAGTCTCACCCGCCGCACCCGCCGT ACCTGCCGCATCCGCCATGCGGGACCCCTGCGTCTCACCCA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03516.hp1 HG03579.hp2 others(1): Show HG03453.hp2 HG03516.hp1 HG03579.hp2 NA20129.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0009 a0001c0010t0005g0024 a0001c0010t0005g0025 others(1): Show a0001c0010t0005g0009 a0001c0010t0005g0024 a0001c0010t0005g0025 a0001c0010t0005g0026	4	90	0.0444	-90	c.274 others(107): Show c.2740-985_2740-896delTGGGTGAGACGCAGGGGTCCCGCATGGC GGATGCGGCAGGTACGGCGGGTGCGGCGGGTGAGACTCAGGGATCCCGCA CGGCGGGTGCGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23						chr5	TogoVar
SLC16A2_chrX_74416493_74538916	74440990	GGGAGTCT others(83): Show GGGAGTCTGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGC TCACTGCAAGCTCCGCCTCCTGGATTTTTTTTTTTTTAGAC	G G	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18986.hp1 NA19006.hp1 NA18948.hp1 NA18986.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0195 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0195	3	233	0.0129	-90	c.430 others(109): Show c.430+18949_430+19038delGGAGTGCAGTGGCGCCATCTCGGCTC ACTGCAAGCTCCGCCTCCTGGATTTTTTTTTTTTTAGACGGAGTCTGTCT CTGTCGCCCAGGCT		SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC25A41_chr19_6421037_6438763	6429054	TATATGTT others(83): Show TATATGTTATATATATATATAATATATATATTATATATATGTTACATATA TATATAATATATATATTATATATATGTTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02004.hp2 HG02257.hp1 others(5): Show HG01884.hp2 HG02004.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG03471.hp1 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0052 a0001c0001t0001g0053 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055	8	348	0.0230	-90	c.624 others(105): Show c.624+580_624+669delTATATATATATATAACATATATATAATATA TATATTATATATATATGTAACATATATATAATATATATATTATATATATA TATAACATAT		SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6						chr19	TogoVar
SLC26A3_chr7_107760469_107808223	107770149	CTTTCTTT others(83): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAAAAAAAAGGGGTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	429	0.0023	-90	c.206 others(109): Show c.2062+1815_2062+1904delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAACCCCTTTTTTTTTTTAAAAAAAAAAAAAAAAAA AAAAAAAAAAGAAA		SLC26A3	ENSG00000091138.13	transcript	ENST00000340010.10	protein_coding	18/20						chr7	TogoVar
SLC26A3_chr7_107760469_107808223	107770153	CTTTTTTT others(83): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAAAAAAAAGGGGTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01516.hp2 HG01943.hp2 others(5): Show HG00639.hp2 HG01516.hp2 HG01943.hp2 HG02735.hp2 HG02895.hp2 HG02965.hp2 HG03540.hp2 NA18941.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0005 a0001c0001 a0001c0002 a0005c0005	a0001c0001t0001 a0001c0002t0001 a0005c0005t0001 a0001c0001t0001 a0001c0002t0001 a0005c0005t0001	a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0177 others(5): Show a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0321 a0001c0002t0001g0152 a0001c0002t0001g0216 a0005c0005t0001g0014	8	14	0.5714	-90	c.206 others(109): Show c.2062+1811_2062+1900delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAACCCCTTTTTTTTTTTAAAAAAAAAAAAAA AAAAAAAAAAAAAA		SLC26A3	ENSG00000091138.13	transcript	ENST00000340010.10	protein_coding	18/20						chr7	TogoVar
SLC26A8_chr6_35938516_36029641	36018282	ATAAACAA others(83): Show ATAAACAAAAATGTGGTATATAAATACAATGGAATATTATTCAGCCATAA AATGAAATGAAGTTCTAATACATGCTACAATATGGATGAAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	304	0.0033	-90	c.188 others(107): Show c.188+1148_188+1237delATTCATCCATATTGTAGCATGTATTAGA ACTTCATTTCATTTTATGGCTGAATAATATTCCATTGTATTTATATACCA CATTTTTGTTTA		SLC26A8	ENSG00000112053.14	transcript	ENST00000490799.6	protein_coding	2/19						chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117924143	ATATATAC others(83): Show ATATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0155 a0001c0001t0025g0155	1	81	0.0123	-90	c.173 others(109): Show c.173+16431_173+16520delCACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATA		SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC39A14_chr8_22362278_22427736	22396447	AGGGGGGG others(83): Show AGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0288 a0001c0007t0006g0288	1	297	0.0034	-90	c.-15 others(107): Show c.-15-8245_-15-8156delGGGGGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGGGGGGGG		SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC39A8_chr4_102256666_102350482	102320463	CATATGAG others(83): Show CATATGAGAATATATATATGAGAGTATATATATATGAGAATATATATATG AGAGTATATATATATGAGAATATATATATGAGAGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03209.hp2 NA20129.hp1 HG01943.hp2 HG03209.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0002g0183 a0001c0001t0003g0071 a0001c0001t0008g0213 a0001c0001t0002g0183 a0001c0001t0003g0071 a0001c0001t0008g0213	3	214	0.0140	-90	c.220 others(107): Show c.220-4723_220-4634delATATATACTCTCATATATATATTCTCAT ATATATATACTCTCATATATATATTCTCATATATATATACTCTCATATAT ATATTCTCATAT		SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding	2/8						chr4	TogoVar
SLC66A2_chr18_79897420_79956653	79910264	ACACCAGA others(83): Show ACACCAGAGTCCCCAACCTTCCCCACCACCTCACCAGAGTCCCCAACCTT CCCCACCACCTCACCAGAGTCCCCAACCTTCCCCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0194 a0001c0001t0009g0194	1	176	0.0057	-90	c.609 others(107): Show c.609-6171_609-6082delAGGTGGTGGGGAAGGTTGGGGACTCTGG TGAGGTGGTGGGGAAGGTTGGGGACTCTGGTGAGGTGGTGGGGAAGGTTG GGGACTCTGGTG		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	5/5						chr18	TogoVar
SLC6A18_chr5_1220381_1251189	1242482	TCCACACG others(83): Show TCCACACGATCCCAACAGGGGCAGGAGGCGTCCACACGATCCCAACAGGG GCAGGAGGCGTCCACACGATCCCAACAGGGGCAGGAGGGGC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0022 a0022	a0022c0030 a0022c0030	a0022c0030t0001 a0022c0030t0001	a0022c0030t0001g0255 a0022c0030t0001g0255	1	454	0.0022	-90	c.975 others(105): Show c.975-197_975-108delCGTCCACACGATCCCAACAGGGGCAGGAGG CGTCCACACGATCCCAACAGGGGCAGGAGGGGCCCACACGATCCCAACAG GGGCAGGAGG		SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
SMIM2_chr13_44138150_44166257	44142132	CCTCGGCT others(83): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG02015.hp1 HG02080.hp1 others(9): Show HG01169.hp1 HG02015.hp1 HG02080.hp1 HG02280.hp1 HG02293.hp2 HG03492.hp1 HG04228.hp1 NA18906.hp2 NA18959.hp2 NA18978.hp2 NA18987.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0084 a0001c0001t0002g0002 a0001c0001t0002g0005 others(5): Show a0001c0001t0001g0084 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0129 a0001c0001t0003g0015 a0001c0001t0003g0088	12	13	0.9231	-90	c.16 others(101): Show c.1696_*1785delCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAG		SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding					1017		chr13	TogoVar
SOGA1_chr20_36772447_36868538	36858311	AACACACA others(83): Show AACACACACACACACACACACACACACACACACACACACACTGGCTGCAC TTCACTCACATCTAGAATCACCAAGGAGGGAAAACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	134	0.0075	-90	c.687 others(107): Show c.687+4257_687+4346delGTGTGTGTTTTCCCTCCTTGGTGATTCT AGATGTGAGTGAAGTGCAGCCAGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT		SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14						chr20	TogoVar
SOGA1_chr20_36772447_36868538	36858393	AACACACA others(83): Show AACACACACACACACACACACACACACACTGGCTGCACTTCACTCACATC TAGAATCACCAAGGAGGGAAAACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0253 a0001c0001t0003g0253	1	180	0.0056	-90	c.687 others(107): Show c.687+4175_687+4264delGTGTGTGTGTGTGTGTGTGTTTTCCCTC CTTGGTGATTCTAGATGTGAGTGAAGTGCAGCCAGTGTGTGTGTGTGTGT GTGTGTGTGTGT		SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14						chr20	TogoVar
SORCS2_chr4_7187538_7747827	7387203	CAGATACA others(83): Show CAGATACACAGAAATACACACATGCACACACACATAGGTACATGCATGCA CACATGCACACACAGATACAGAGATACACATGCACATACAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG06807.hp1 HG03225.hp1 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0010 a0001c0005 a0001c0010	a0001c0005t0016 a0001c0010t0026 a0001c0005t0016 a0001c0010t0026	a0001c0005t0016g0104 a0001c0010t0026g0105 a0001c0005t0016g0104 a0001c0010t0026g0105	2	168	0.0119	-90	c.481 others(107): Show c.481-9083_481-8994delGATACACAGAAATACACACATGCACACA CACATAGGTACATGCATGCACACATGCACACACAGATACAGAGATACACA TGCACATACATA		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA13_chr13_24155720_24312069	24308663	GCTCCTGC others(83): Show GCTCCTGCTCTGTGCGTGGCCTCGCCGCCGAGCTGGGGTGAGCCCCGCAC CCACCCGTACACCCGGCCTCTGCTCCTGCTCTTTGCGTGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA19009.hp2 NA18948.hp1 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0082 a0001c0006t0001g0144 a0001c0002t0001g0082 a0001c0006t0001g0144	2	354	0.0056	-90	c.58 others(101): Show c.5891_*5980delCTCCTGCTCTGTGCGTGGCCTCGCCGCCGAGCTG GGGTGAGCCCCGCACCCACCCGTACACCCGGCCTCTGCTCCTGCTCTTTG CGTGGC		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding					1595		chr13	TogoVar
SRGAP2C_chr1_121179975_121397874	121239192	ATATATAT others(83): Show ATATATATATATATATATATATATATATATATATATACTATATATATATA TATACTATATATATATATATATATACTATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp1 HG02615.hp2 HG00621.hp1 HG01109.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0155 a0001c0001t0001g0209 a0001c0001t0001g0135 a0001c0001t0001g0155 a0001c0001t0001g0209	3	272	0.0110	-90	c.68- others(107): Show c.68-45592_68-45503delTATATATATATATATATACTATATATAT ATATATACTATATATATATATATATATACTATATATATATATACTATATA TATATATATATA		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206372898	CCTTTCTT others(83): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG01169.hp1 HG00735.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0007 a0001c0004t0011g0015 a0001c0004t0011g0039 a0001c0004t0011g0007 a0001c0004t0011g0015 a0001c0004t0011g0039	3	164	0.0183	-90	c.424 others(109): Show c.424-11075_424-10986delCTTTCTTTCTTTCTTTCTTTTCTTTC CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT		SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRXN1_chr20_641615_658200	642231	GGGGGGGG others(83): Show GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCAGCGGGG GTGAAGTTGCCTGGGGGGGGCCAGCGGGGGTGGAGTTGCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0118 a0001c0001t0007g0118	1	414	0.0024	-90	c.63 others(101): Show c.6393_*6482delAGGCAACTCCACCCCCGCTGGCCCCCCCCAGGCA ACTTCACCCCCGCTGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGC CCCCCC		SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding					4383		chr20	TogoVar
STAT4_chr2_191024576_191155994	191054142	AAGAAAGA others(83): Show AAGAAAGAAAAAAAAGATACATTGCTATGTGAAAAAAGCAGGCTATGAAG CAATGAGTATCATATATTTTTAAAGTAATATATAGATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03516.hp1 HG02897.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0198 a0001c0001t0001g0039 a0001c0001t0001g0198	2	288	0.0069	-90	c.125 others(107): Show c.1251+258_1251+347delATTTATCTATATATTACTTTAAAAATAT ATGATACTCATTGCTTCATAGCCTGCTTTTTTCACATAGCAATGTATCTT TTTTTTCTTTCT		STAT4	ENSG00000138378.19	transcript	ENST00000392320.7	protein_coding	14/23						chr2	TogoVar
STIM1_chr11_3850664_4098208	3895661	TCTTTCTT others(83): Show TCTTTCTTTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA19012.hp1 NA18988.hp2 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0063 a0001c0002t0002g0060 a0001c0002t0002g0063	2	292	0.0068	-90	c.139 others(109): Show c.139+39256_139+39345delTCTTTCTTTCCTTCCTTCCTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTC TTTCTTCCTTCCTT		STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
STK26_chrX_132018302_132080943	132044706	GAGATCTA others(83): Show GAGATCTATATATATATTTATATATATATAGAGAGATCTATATATATATT TATATATATATAGAGAGATCTATATATATATTTATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	236	0.0042	-90	c.43- others(105): Show c.43-9921_43-9832delTCTATATATATATTTATATATATATAGAGA GATCTATATATATATTTATATATATATAGAGAGATCTATATATATATTTA TATATATAGA		STK26	ENSG00000134602.16	transcript	ENST00000394334.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
STK32A_chr5_147230026_147392855	147234581	AGGGGGGT others(83): Show AGGGGGGTGAGGCACCCCCGGCGATATGGAGAGTAATAGCACCCCCCTTC TCCCCCCCCCCCCCCCCCGGCTATTACGATCCACATCGCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01261.hp1 HG01168.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0063 a0001c0002t0002g0253 a0001c0001t0001g0063 a0001c0002t0002g0253	2	314	0.0064	-90	c.-71 others(99): Show c.-714_-625delGGGGGGTGAGGCACCCCCGGCGATATGGAGAGTAAT AGCACCCCCCTTCTCCCCCCCCCCCCCCCCCGGCTATTACGATCCACATC GCAG		STK32A	ENSG00000169302.16	transcript	ENST00000397936.8	protein_coding					444		chr5	TogoVar
STK32B_chr4_5046480_5505989	5316584	ATAATATA others(83): Show ATAATATATATTACATATATAATATATATTATATATTATATATATAATAT ATAATATATTATATATATAATATATAATATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	168	0.0060	-90	c.261 others(109): Show c.261-14635_261-14546delTAATATATATTACATATATAATATAT ATTATATATTATATATATAATATATAATATATTATATATATAATATATAA TATATATTATATAT		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11						chr4	TogoVar
STON1_chr2_48525154_48603513	48564518	TCTTCTTC others(83): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0307 a0002c0002t0002g0307	1	373	0.0027	-90	c.-47 others(109): Show c.-47-16063_-47-15974delTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTC CTCCTTCTCCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STOX2_chr4_183900307_184028526	183956362	TTCTATCT others(83): Show TTCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCACC TATCTGTCGATCTATCATTCTATCATTCATCTATCTATCTA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0071 a0002c0013t0071	a0002c0013t0071g0260 a0002c0013t0071g0260	1	116	0.0086	-90	c.167 others(109): Show c.167-44931_167-44842delATCTATCTATCTATCACCTATCTGTC GATCTATCATTCTATCATTCATCTATCTATCTATCTATCTATCTATCTAT CTATCTATCTATCT		STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
STPG4_chr2_47081991_47160308	47084590	AGAGGCCT others(83): Show AGAGGCCTGAGAGAGGCGGAGGGCAGACCATGAGGCCTGAGAGAGGCGGA GGGCAGACCATGAGGCCTGAGAGAGGCAGAGGGGAGACCAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02080.hp2 others(2): Show HG01070.hp2 HG01071.hp2 HG02080.hp2 NA18522.hp2 NA18947.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0011 others(1): Show a0001c0001 a0002c0002 a0003c0011 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0003c0011t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0011t0001 a0004c0005t0001	a0001c0001t0001g0270 a0001c0001t0001g0271 a0002c0002t0001g0294 others(2): Show a0001c0001t0001g0270 a0001c0001t0001g0271 a0002c0002t0001g0294 a0003c0011t0001g0018 a0004c0005t0001g0014	5	336	0.0149	-90	c.23 others(101): Show c.2328_*2417delATGGTCTCCCCTCTGCCTCTCTCAGGCCTCATGG TCTGCCCTCCGCCTCTCTCAGGCCTCATGGTCTGCCCTCCGCCTCTCTCA GGCCTC		STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding					2400		chr2	TogoVar
TACC2_chr10_121984163_122259542	122200357	GACCTCAC others(83): Show GACCTCACCTGCCCACAGTGGCCACATCTACAGTGAGAGGACGGGCACCT CACCTGCCCACAGTGGCTGTGTTCACATGGGGAGGACAGTT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01884.hp1 HG02055.hp1 others(8): Show HG01175.hp1 HG01884.hp1 HG02055.hp1 HG02145.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02723.hp2 HG02965.hp2 HG03540.hp2 HG03579.hp2	a0002 a0008 a0009 others(6): Show a0002 a0008 a0009 a0010 a0021 a0027 a0033 a0051 a0054	a0002c0002 a0008c0009 a0009c0030 others(8): Show a0002c0002 a0008c0009 a0009c0030 a0009c0031 a0009c0046 a0010c0072 a0021c0055 a0027c0038 a0033c0037 a0051c0093 a0054c0080	a0002c0002t0001 a0008c0009t0002 a0009c0030t0002 others(8): Show a0002c0002t0001 a0008c0009t0002 a0009c0030t0002 a0009c0031t0001 a0009c0046t0002 a0010c0072t0003 a0021c0055t0003 a0027c0038t0002 a0033c0037t0001 a0051c0093t0001 a0054c0080t0002	a0002c0002t0001g0019 a0008c0009t0002g0100 a0009c0030t0002g0108 others(8): Show a0002c0002t0001g0019 a0008c0009t0002g0100 a0009c0030t0002g0108 a0009c0031t0001g0011 a0009c0046t0002g0166 a0010c0072t0003g0062 a0021c0055t0003g0255 a0027c0038t0002g0163 a0033c0037t0001g0059 a0051c0093t0001g0300 a0054c0080t0002g0102	11	288	0.0382	-90	c.597 others(109): Show c.5971+5293_5971+5382delCACATCTACAGTGAGAGGACGGGCAC CTCACCTGCCCACAGTGGCTGTGTTCACATGGGGAGGACAGTTACCTCAC CTGCCCACAGTGGC		TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	8/22					INFO_REALIGN_3_PRIME	chr10	TogoVar
TACC2_chr10_121984163_122259542	122200942	GACCTCAC others(83): Show GACCTCACCCGCCCACAGTGGCCACATCTACAGTGAGAGGACGGCCACCT CACCCGCCCAGAGTGGCCACATCTACAGTGAGAGGACGGCC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0031 a0031	a0031c0124 a0031c0124	a0031c0124t0003 a0031c0124t0003	a0031c0124t0003g0225 a0031c0124t0003g0225	1	279	0.0036	-90	c.597 others(109): Show c.5971+5820_5971+5909delCGCCCAGAGTGGCCACATCTACAGTG AGAGGACGGCCACCTCACCCGCCCACAGTGGCCACATCTACAGTGAGAGG ACGGCCACCTCACC		TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	8/22					INFO_REALIGN_3_PRIME	chr10	TogoVar
TACC2_chr10_121984163_122259542	122201002	GAGTGGCC others(83): Show GAGTGGCCACATCTACAGTGAGAGGACGGCCACCTCACCCGCCCACAGTG GCCACATCTACAGTGAGAGGACGGCCACCTCACCTGCCCAC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp1 HG02145.hp1 others(11): Show HG01192.hp2 HG01243.hp1 HG02145.hp1 HG02615.hp2 HG02723.hp1 HG02818.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03540.hp1 HG03579.hp1	a0001 a0005 a0006 others(10): Show a0001 a0005 a0006 a0007 a0010 a0020 a0023 a0028 a0032 a0042 a0050 a0053 a0073	a0001c0001 a0005c0106 a0006c0006 others(11): Show a0001c0001 a0005c0106 a0006c0006 a0007c0012 a0010c0039 a0020c0020 a0023c0035 a0028c0045 a0028c0098 a0032c0071 a0042c0040 a0050c0069 a0053c0094 a0073c0119	a0001c0001t0005 a0005c0106t0002 a0006c0006t0002 others(11): Show a0001c0001t0005 a0005c0106t0002 a0006c0006t0002 a0007c0012t0005 a0010c0039t0003 a0020c0020t0003 a0023c0035t0001 a0028c0045t0001 a0028c0098t0003 a0032c0071t0003 a0042c0040t0003 a0050c0069t0001 a0053c0094t0001 a0073c0119t0001	a0001c0001t0005g0159 a0005c0106t0002g0002 a0006c0006t0002g0118 others(11): Show a0001c0001t0005g0159 a0005c0106t0002g0002 a0006c0006t0002g0118 a0007c0012t0005g0165 a0010c0039t0003g0248 a0020c0020t0003g0223 a0023c0035t0001g0016 a0028c0045t0001g0249 a0028c0098t0003g0227 a0032c0071t0003g0256 a0042c0040t0003g0247 a0050c0069t0001g0305 a0053c0094t0001g0303 a0073c0119t0001g0251	14	303	0.0462	-90	c.597 others(109): Show c.5971+5865_5971+5954delCGCCCACAGTGGCCACATCTACAGTG AGAGGACGGCCACCTCACCTGCCCACAGTGGCCACATCTACAGTGAGAGG ACGGCCACCTCACC		TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	8/22					INFO_REALIGN_3_PRIME	chr10	TogoVar
TACC2_chr10_121984163_122259542	122201041	CGCCCACA others(83): Show CGCCCACAGTGGCCACATCTACAGTGAGAGGACGGCCACCTCACCTGCCC ACAGTGGCCACATCTACAGTGAGAGGACGGCCACCTCACCT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	295	0.0034	-90	c.597 others(109): Show c.5971+5890_5971+5979delGAGAGGACGGCCACCTCACCTGCCCA CAGTGGCCACATCTACAGTGAGAGGACGGCCACCTCACCTGCCCACAGTG GCCACATCTACAGT		TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	8/22					INFO_REALIGN_3_PRIME	chr10	TogoVar
TACC2_chr10_121984163_122259542	122201254	GGCCACCT others(83): Show GGCCACCTCACCTGCCCACAGTGGCTGCGTTCACATGGGGAAAACGGCCA CCTCACCTGCCCACAGTGGCTGCGTTCACATGGGGAAGACA	G G	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0269 a0001c0001t0004g0269	1	304	0.0033	-90	c.597 others(109): Show c.5971+6106_5971+6195delGTTCACATGGGGAAAACGGCCACCTC ACCTGCCCACAGTGGCTGCGTTCACATGGGGAAGACAGCCACCTCACCTG CCCACAGTGGCTGC		TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	8/22					INFO_REALIGN_3_PRIME	chr10	TogoVar
TBC1D22A_chr22_46757650_47180693	47063932	GCCCCCCT others(83): Show GCCCCCCTACTCCAGTGTGGCCTCCTCTGAACTGCATCTTCAGGTGCCCT GTTTTCCTCTTCTGTGAGGACACCCGTCATTGGATCAGGGC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(72): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18962.hp1 NA18962.hp2 NA18980.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0004c0007 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0002t0001 a0002c0003t0003 a0003c0005t0001 a0004c0007t0001 a0005c0006t0019	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0027 others(72): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0003g0026 a0001c0001t0003g0035 a0001c0001t0003g0063 a0001c0001t0003g0075 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0088 a0001c0001t0003g0102 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0045 a0001c0001t0004g0053 a0001c0001t0004g0070 a0001c0001t0004g0093 a0001c0001t0005g0112 a0001c0001t0006g0082 a0001c0001t0006g0095 a0001c0001t0007g0036 a0001c0001t0007g0044 a0001c0001t0007g0100 a0001c0001t0008g0043 a0001c0001t0008g0048 a0001c0001t0009g0013 a0001c0001t0009g0025 a0001c0001t0010g0023 a0001c0001t0011g0062 a0001c0001t0013g0065 a0001c0001t0014g0006 a0001c0001t0016g0068 a0001c0001t0017g0109 a0001c0001t0018g0038 a0001c0001t0021g0103 a0001c0001t0022g0017 a0001c0002t0001g0001 a0001c0002t0001g0011 a0002c0003t0003g0028 a0003c0005t0001g0066 a0004c0007t0001g0064 a0005c0006t0019g0019	75	112	0.6696	-90	c.132 others(111): Show c.1329+26773_1329+26862delTCAGGTGCCCTGTTTTCCTCTTCT GTGAGGACACCCGTCATTGGATCAGGGCCCCCCCTACTCCAGTGTGGCCT CCTCTGAACTGCATCT		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TCHH_chr1_152101317_152120444	152109834	CGTTCCTC others(83): Show CGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTC CCGACATTGCCTCTCCCGCTCCTGGCGCCTTCTCTTCTCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp1 HG02040.hp1 HG02040.hp2 others(3): Show HG00438.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp2	a0017 a0027 a0017 a0027	a0017c0016 a0027c0041 a0027c0042 a0017c0016 a0027c0041 a0027c0042	a0017c0016t0004 a0027c0041t0004 a0027c0042t0004 a0017c0016t0004 a0027c0041t0004 a0027c0042t0004	a0017c0016t0004g0017 a0027c0041t0004g0042 a0027c0042t0004g0043 a0017c0016t0004g0017 a0027c0041t0004g0042 a0027c0042t0004g0043	6	400	0.0150	-90	c.329 others(99): Show c.3293_3382delCGGAGAAGAGAAGGCGCCAGGAGCGGGAGAGGCAAT GTCGGGAGGAAGAGGAGCTGCAGCAGGAGGAAGAGCAGCTGCTGAGAGAG GAAC	p.Pro others(15): Show p.Pro1098_Glu1127del	TCHH	ENSG00000159450.13	transcript	ENST00000614923.2	protein_coding	3/3	3467/6985	3293/5832	1098/1943			chr1	TogoVar
TEX19_chr17_82354247_82368775	82355899	GGTGAGTC others(83): Show GGTGAGTCACCTGATGATCTAAACACACTTTTCTTTCTTGTTTGATTCCA GCTGGGTCACCTGCCAACAGAACCAAGCCCACTTGGGTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0026	-90	c.-36 others(101): Show c.-3657_-3568delGTGAGTCACCTGATGATCTAAACACACTTTTCTT TCTTGTTTGATTCCAGCTGGGTCACCTGCCAACAGAACCAAGCCCACTTG GGTTTT		TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding					3347		chr17	TogoVar
TFDP1_chr13_113579753_113646473	113600651	ACACGTAG others(83): Show ACACGTAGAGCTCCAGGACCGTGATAGAGAACTCAGGATGGTGAGAGAGA ATCCTTGCATGTAGGGCTCCAGGACCATGAGAGAGAACCCT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00621.hp2 others(14): Show HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG02080.hp1 HG02083.hp2 HG03654.hp1 NA18747.hp2 NA18943.hp1 NA18944.hp2 NA18974.hp1 NA18990.hp2 NA18995.hp2 NA19000.hp1 NA19064.hp1 NA19079.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0089 a0001c0002t0001g0001 a0001c0002t0001g0295 others(5): Show a0001c0001t0001g0089 a0001c0002t0001g0001 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300	17	346	0.0491	-90	c.13- others(107): Show c.13-10337_13-10248delAGCTCCAGGACCGTGATAGAGAACTCAG GATGGTGAGAGAGAATCCTTGCATGTAGGGCTCCAGGACCATGAGAGAGA ACCCTCACGTAG		TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr13	TogoVar
TGFBR3L_chr19_7909830_7924097	7910782	TCTGGGCA others(83): Show TCTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGG GCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG03704.hp2 HG01109.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	444	0.0045	-90	c.-54 others(101): Show c.-5485_-5396delCTGGGCAAGATGACAGTGGCGGTGAGTGACCAGG CGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGG CGTGCA		TGFBR3L	ENSG00000260001.7	transcript	ENST00000565886.2	protein_coding					4047		chr19	TogoVar
THBS3_chr1_155190588_155212897	155190824	GTGGGCTT others(83): Show GTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCTGGGGGGG CGGTGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGAAAAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	296	0.0034	-90	c.49 others(101): Show c.4927_*5016delGTTTTCCAACCCCGGACACCAGGCCGGCCCCGGC TCCACCGCCCCCCCAGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCA AGCCCA		THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding					4763		chr1	TogoVar
TIGIT_chr3_114289028_114315288	114303518	CACATATA others(83): Show CACATATATATGTATATATATACACATATATATGTATATATATATACATA TATATGTATATATATATATACATATATATGTATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	2	406	0.0049	-90	c.498 others(107): Show c.498+3817_498+3906delCATATATATGTATATATATACACATATA TATGTATATATATATACATATATATGTATATATATATATACATATATATG TATATATATATA		TIGIT	ENSG00000181847.12	transcript	ENST00000383671.8	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM144_chr4_158205486_158260416	158257070	ATATTATA others(83): Show ATATTATATATAGTATTATATATTATATATAGTATTATATATATTATATA TAGTATTATATATTATATATAGTATTATATATAATATATAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	272	0.0037	-90	c.35 others(101): Show c.3544_*3633delTATTATATATAGTATTATATATTATATATAGTAT TATATATATTATATATAGTATTATATATTATATATAGTATTATATATAAT ATATAG		TMEM144	ENSG00000164124.11	transcript	ENST00000296529.11	protein_coding					1655		chr4	TogoVar
TMEM163_chr2_134450759_134724000	134607958	GACAGACC others(83): Show GACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGT GCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	217	0.0046	-90	c.323 others(109): Show c.323-55957_323-55868delTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGT		TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7						chr2	TogoVar
TNFSF10_chr3_172500508_172528430	172523163	TTCAGAGA others(83): Show TTCAGAGAGGGGCAAGCTGACATGCAAAGAAGCAGGTAACCAGACATTTG CTAAGCGCCTCGAAGACTGAGTGCACTGCACTGCACTGACC	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03195.hp1 HG03195.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0057 a0006c0006t0001g0057	1	436	0.0023	-90	c.132 others(100): Show c.132_132+89delGGTCAGTGCAGTGCAGTGCACTCAGTCTTCGAGGC GCTTAGCAAATGTCTGGTTACCTGCTTCTTTGCATGTCAGCTTGCCCCTC TCTGA	p.Met others(4): Show p.Met45fs	TNFSF10	ENSG00000121858.11	transcript	ENST00000241261.7	protein_coding	1/5		132/846	44/281			chr3	TogoVar
TNK2_chr3_195858364_195913551	195875331	ACTCCCCC others(83): Show ACTCCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCC CCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0001 a0001c0042t0001	a0001c0042t0001g0230 a0001c0042t0001g0230	1	343	0.0029	-90	c.125 others(109): Show c.1256+2832_1257-2862delCTTCTTGTGCCTCGGAGCGTGCGTGG GCGCCATCCCGAGGGGGAGTTTCTTGTGCCTCGGAGCGTGCGTGGGCGCC ATCCCGAGGGGGAG		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15						chr3	TogoVar
TNK2_chr3_195858364_195913551	195875372	AGAAACTC others(83): Show AGAAACTCCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAG CTCCCCCTCGGGATGGCGCCCACGCACGCTCGGAGGCACAG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	302	0.0033	-90	c.125 others(109): Show c.1256+2791_1256+2880delCTGTGCCTCCGAGCGTGCGTGGGCGC CATCCCGAGGGGGAGCTTCTTGTGCCTCGGAGCGTGCGTGGGCGCCATCC CGAGGGGGAGTTTC		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15						chr3	TogoVar
TP63_chr3_189626389_189902276	189681109	AATGTATC others(83): Show AATGTATCTTTTCTTACTTCTGTGCTCCTATAATCTTTCACCTGGTTTTC TCAGCTCCTGGTAATATATTTTCATAAGTGAATAGTCACTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00438.hp2 others(1): Show HG00140.hp1 HG00423.hp2 HG00438.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0087 a0001c0001t0001g0209 a0001c0001t0002g0306 others(1): Show a0001c0001t0001g0087 a0001c0001t0001g0209 a0001c0001t0002g0306 a0001c0001t0002g0307	4	310	0.0129	-90	c.62+ others(107): Show c.62+49621_62+49710delTTATGTATCTTTTCTTACTTCTGTGCTC CTATAATCTTTCACCTGGTTTTCTCAGCTCCTGGTAATATATTTTCATAA GTGAATAGTCAC		TP63	ENSG00000073282.14	transcript	ENST00000264731.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
TP73_chr1_3647516_3741201	3706380	GGGGGTAA others(83): Show GGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGG TAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp1 HG03041.hp1 HG02280.hp2 HG02717.hp1 HG03041.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0018 a0001c0007t0018	a0001c0007t0018g0082 a0001c0007t0018g0215 a0001c0007t0018g0217 a0001c0007t0018g0082 a0001c0007t0018g0215 a0001c0007t0018g0217	3	335	0.0090	-90	c.187 others(107): Show c.187-1124_187-1035delGGGGGTAATAGGGACAATCACGGTGCCC GCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGC AGGCCCGGGGAG		TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
TPO_chr2_1408463_1548673	1478812	GAAACACG others(83): Show GAAACACGGCAGACGGGCTCACTGTCCTAACACGCATCCACACAGCAAAC ACAGAAGACGAGCTCACTGTCCTAACGCACATCCACACAGC	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	128	0.0078	-90	c.133 others(109): Show c.1338+1223_1338+1312delGGCTCACTGTCCTAACACGCATCCAC ACAGCAAACACAGAAGACGAGCTCACTGTCCTAACGCACATCCACACAGC AAACACGGCAGACG		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	8/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1517553	TCCTTGCT others(83): Show TCCTTGCTGCTGCCTCTCACCTTGCTGCTGCCTCTCACCTTGCTGCTGCC TCTCACCTTGCTGCTGCCTCTCACCTTGCTGCTGCCTCTCA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00609.hp2 others(14): Show HG00544.hp1 HG00597.hp2 HG00609.hp2 HG01081.hp1 HG01192.hp2 HG02040.hp1 HG02486.hp2 HG02602.hp1 HG02683.hp2 HG03239.hp1 HG04184.hp1 NA18962.hp1 NA18971.hp1 NA18998.hp2 NA18999.hp1 NA19058.hp1 NA20752.hp1	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0006 a0007 a0010 a0012	a0002c0002 a0003c0003 a0004c0005 others(7): Show a0002c0002 a0003c0003 a0004c0005 a0004c0007 a0004c0032 a0006c0021 a0006c0022 a0007c0013 a0010c0010 a0012c0033	a0002c0002t0009 a0003c0003t0001 a0003c0003t0005 others(12): Show a0002c0002t0009 a0003c0003t0001 a0003c0003t0005 a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0004c0005t0007 a0004c0007t0004 a0004c0007t0008 a0004c0032t0008 a0006c0021t0004 a0006c0022t0002 a0007c0013t0012 a0010c0010t0002 a0012c0033t0001	a0002c0002t0009g0062 a0003c0003t0001g0045 a0003c0003t0005g0082 others(14): Show a0002c0002t0009g0062 a0003c0003t0001g0045 a0003c0003t0005g0082 a0004c0005t0001g0079 a0004c0005t0002g0088 a0004c0005t0003g0017 a0004c0005t0007g0080 a0004c0007t0004g0076 a0004c0007t0004g0108 a0004c0007t0008g0049 a0004c0007t0008g0099 a0004c0032t0008g0107 a0006c0021t0004g0030 a0006c0022t0002g0033 a0007c0013t0012g0066 a0010c0010t0002g0067 a0012c0033t0001g0098	17	51	0.3333	-90	c.261 others(107): Show c.2618+672_2618+761delGCCTCTCACCTTGCTGCTGCCTCTCACC TTGCTGCTGCCTCTCACCTTGCTGCTGCCTCTCACCTTGCTGCTGCCTCT CACCTTGCTGCT		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAPPC11_chr4_183654293_183718589	183711671	CACAGCAG others(83): Show CACAGCAGCAGCAAACTGAAAGCAGGAGTGCTGTCTTCACTGCCTCGGGA ATGCCTCAGAATCTTTCTGCTTAAAGCATAGCAAATCACTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(58): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01515.hp2 HG01517.hp1 HG01993.hp2 HG02015.hp1 HG02074.hp2 HG02083.hp1 HG02145.hp1 HG02293.hp2 HG02300.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02683.hp1 HG02896.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 NA18747.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18957.hp2 NA18962.hp1 NA18965.hp1 NA18974.hp1 NA18978.hp2 NA18982.hp1 NA18988.hp1 NA18998.hp2 NA19000.hp2 NA19009.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19075.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0024 a0003c0005 others(1): Show a0001c0001 a0002c0024 a0003c0005 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0002c0024t0001 a0003c0005t0001 a0007c0009t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0093 others(57): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0093 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0287 a0001c0001t0001g0310 a0001c0001t0001g0333 a0001c0001t0001g0364 a0001c0001t0001g0367 a0001c0001t0003g0121 a0001c0001t0003g0150 a0001c0001t0003g0156 a0001c0001t0008g0335 a0002c0024t0001g0278 a0003c0005t0001g0015 a0003c0005t0001g0046 a0003c0005t0001g0048 a0003c0005t0001g0051 a0003c0005t0001g0058 a0003c0005t0001g0075 a0003c0005t0001g0090 a0003c0005t0001g0091 a0003c0005t0001g0107 a0003c0005t0001g0128 a0003c0005t0001g0145 a0003c0005t0001g0157 a0003c0005t0001g0181 a0003c0005t0001g0186 a0003c0005t0001g0198 a0003c0005t0001g0228 a0003c0005t0001g0259 a0003c0005t0001g0262 a0003c0005t0001g0269 a0003c0005t0001g0271 a0003c0005t0001g0272 a0003c0005t0001g0293 a0003c0005t0001g0326 a0003c0005t0001g0360 a0003c0005t0001g0361 a0003c0005t0001g0362 a0003c0005t0001g0373 a0003c0005t0001g0374 a0003c0005t0001g0375 a0003c0005t0001g0387 a0003c0005t0001g0390 a0003c0005t0001g0400 a0007c0009t0001g0088 a0007c0009t0001g0089 a0007c0009t0001g0118	61	418	0.1459	-90	c.335 others(107): Show c.3358-928_3358-839delACAGCAGCAGCAAACTGAAAGCAGGAGT GCTGTCTTCACTGCCTCGGGAATGCCTCAGAATCTTTCTGCTTAAAGCAT AGCAAATCACTT		TRAPPC11	ENSG00000168538.16	transcript	ENST00000334690.11	protein_coding	29/29						chr4	TogoVar
TRAPPC12_chr2_3374694_3484565	3437088	TCACCCCT others(83): Show TCACCCCTGGATTAATCCCCCCATCAGCCCTGGATTAATACCCCATCACC CCAGGATTAATACCCCATCACCCCTGAATTAATCCCCCCAC	T T	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18969.hp1 NA19063.hp2 NA18945.hp2 NA18969.hp1 NA19063.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0019 a0001c0001 a0003c0019	a0001c0001t0001 a0003c0019t0003 a0001c0001t0001 a0003c0019t0003	a0001c0001t0001g0335 a0003c0019t0003g0040 a0003c0019t0003g0109 a0001c0001t0001g0335 a0003c0019t0003g0040 a0003c0019t0003g0109	3	342	0.0088	-90	c.141 others(109): Show c.1418-6670_1418-6581delCATCAGCCCTGGATTAATACCCCATC ACCCCAGGATTAATACCCCATCACCCCTGAATTAATCCCCCCACCACCCC TGGATTAATCCCCC		TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr2	TogoVar

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