Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(181): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18522.hp2 HG01261.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0021 a0001c0001t0006 a0001c0001t0021	a0001c0001t0006g0083 a0001c0001t0021g0061 a0001c0001t0006g0083 a0001c0001t0021g0061	2	77	0.0260	188	c.691 others(207): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTT CCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(181): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0198 a0001c0001t0077g0198	1	76	0.0132	188	c.691 others(207): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTT CCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(181): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	76	0.0132	188	c.691 others(207): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTT CCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(181): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0143 a0001c0001t0089g0143	1	76	0.0132	188	c.691 others(207): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTT CCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIGIRR_chr11_400716_419999	401629	G G	GACCCGCT others(181): Show GACCCGCTCACCCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCCGC CCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGC TCACCCCCGGCCCCGCTCACCCCCCGGCCCCCGCTCACACCCGCCCCGCT CACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	216	0.0046	188	c.42 others(199): Show c.4266_*4267insGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGG GTGTGAGCGGGGCGGGTGTGAGCGGGGGCCGGGGGGTGAGCGGGGCCGGG GGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGA GCGGGGCGGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGGTGAGC GGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4086		chr11	TogoVar
SIGIRR_chr11_400716_419999	401707	G G	GCCCCGCT others(181): Show GCCCCGCTCACACCCGCCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCC GCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTC ACACCCCGCCCCGCTCACCCCCCAGCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	236	0.0042	188	c.41 others(199): Show c.4188_*4189insGGGTGTGAGCGGGGCTGGGGGGTGAGCGGGGCGG GGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTG TGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAG CGGGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGGCGGGTGTGAGC GGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4008		chr11	TogoVar
SIK3_chr11_116838402_117103428	116947127	A A	AATATATA others(181): Show AATATATAAATTATTATTTATATATAATATATAATATATAAATTATTATT TATATATAATATATAATATATAATTATTTATATATAATATATTATATATA AATTATTATTTATATATAATATATAATATATAAATTATTATTTATATATA ATATATAATATATAAATTATTATTTATATATAATATATT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0356 a0001c0002t0002g0356	1	227	0.0044	188	c.454 others(205): Show c.454+6916_454+6917insAATATATTATATATAAATAATAATTTAT ATATTATATATTATATATAAATAATAATTTATATATTATATATTATATAT AAATAATAATTTATATATAATATATTATATATAAATAATTATATATTATA TATTATATATAAATAATAATTTATATATTATATATTATATATAAATAATA ATTTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116947127	A A	AATATATA others(181): Show AATATATAAATTATTATTTATATATAATATATAATATATAAATTATTATT TATATATAATATATAATATATAATTATTTATATATAATATATTATATATA AATTATTATTTATATATAATATATTATATATAAATTATTATTTATATATA ATATATAATATATAAATTATTATTTATATATAATATATT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp2 HG01255.hp1 others(20): Show HG00438.hp2 HG00733.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG02074.hp1 HG02109.hp1 HG02135.hp1 HG02165.hp2 HG02965.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp2 NA18945.hp2 NA18949.hp2 NA18952.hp1 NA18960.hp1 NA18966.hp1 NA18970.hp1 NA18974.hp1 NA19000.hp1 NA19062.hp1 NA19090.hp2	a0001 a0002 a0015 others(1): Show a0001 a0002 a0015 a0017	a0001c0002 a0001c0026 a0002c0004 others(2): Show a0001c0002 a0001c0026 a0002c0004 a0015c0023 a0017c0025	a0001c0002t0002 a0001c0002t0013 a0001c0002t0024 others(4): Show a0001c0002t0002 a0001c0002t0013 a0001c0002t0024 a0001c0026t0002 a0002c0004t0005 a0015c0023t0002 a0017c0025t0002	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0005 others(20): Show a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0008 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0017 a0001c0002t0002g0021 a0001c0002t0002g0024 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0047 a0001c0002t0002g0199 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0013g0283 a0001c0002t0024g0022 a0001c0026t0002g0196 a0002c0004t0005g0020 a0015c0023t0002g0015 a0017c0025t0002g0030	23	249	0.0924	188	c.454 others(205): Show c.454+6916_454+6917insAATATATTATATATAAATAATAATTTAT ATATTATATATTATATATAAATAATAATTTATATATAATATATTATATAT AAATAATAATTTATATATAATATATTATATATAAATAATTATATATTATA TATTATATATAAATAATAATTTATATATTATATATTATATATAAATAATA ATTTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116947127	A A	AATATATA others(181): Show AATATATAAATTATTATTTATATATAATATATAATATATAAATTATTATT TATATATAATATATAATATATAATTATTTATATATAATATATTATATATA AATTATTATTTATATATAATATATTATATATAAATTATTATTTATATATA ATATATTATATATAAATTATTATTTATATATAATATATT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02818.hp1 others(1): Show HG02622.hp2 HG02630.hp1 HG02818.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0198 others(1): Show a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0200	4	230	0.0174	188	c.454 others(205): Show c.454+6916_454+6917insAATATATTATATATAAATAATAATTTAT ATATAATATATTATATATAAATAATAATTTATATATAATATATTATATAT AAATAATAATTTATATATAATATATTATATATAAATAATTATATATTATA TATTATATATAAATAATAATTTATATATTATATATTATATATAAATAATA ATTTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116947127	A A	AATATATA others(181): Show AATATATAAATTATTATTTATATATAATATATAATATATAAATTATTATT TATATATAATATATTATATATAATTATTTATATATAATATATTATATATA AATTATTATTTATATATAATATATTATATATAAATTATTATTTATATATA ATATATAATATATAAATTATTATTTATATATAATATATT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0284 a0001c0002t0018g0284	1	227	0.0044	188	c.454 others(205): Show c.454+6916_454+6917insAATATATTATATATAAATAATAATTTAT ATATTATATATTATATATAAATAATAATTTATATATAATATATTATATAT AAATAATAATTTATATATAATATATTATATATAAATAATTATATATAATA TATTATATATAAATAATAATTTATATATTATATATTATATATAAATAATA ATTTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIVA1_chr14_104748147_104764654	104764084	G G	GGACTGGA others(181): Show GGACTGGAATGGAATGGAATGGAATGGAATGGAATGGAATCAACTCGATT GTAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATTAACCCGAATACAATGGAATGGAATGGAATGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	318	0.0031	188	c.45 others(199): Show c.4599_*4600insGACTGGAATGGAATGGAATGGAATGGAATGGAAT GGAATCAACTCGATTGTAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATTAACCCGAATACAATGGAATGGAATGGAAT GGAA	SIVA1	ENSG00000184990.13	transcript	ENST00000329967.11	protein_coding		4431		chr14	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(181): Show GTATATATATATATATATATACTCTAAGTATTATATATTATATACTCCAA AACTGTGTGTGTGTGTATATATATATATATATATGTATATATATATATAT TTATACACACATATATATACATACACATATATATATACACACACACACAG AGTTTTGGAGTATATAATATATAATACTTAGAGTATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0132 a0001c0002t0002g0132	1	166	0.0060	188	c.240 others(207): Show c.2402+1006_2402+1007insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTATATATATATATATATATGTATATATATATA TATTTATACACACATATATATACATACACATATATATATACACACACACA CAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATATA TATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(181): Show GTATATATATATATATATATACTCTAAGTATTATATATTATATACTCCAA AACTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATAT ATACACACACATATATATACATACACATATATATATACACACACACACAG AGTTTTGGAGTATATAATATATAATACTTAGAGTATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	166	0.0060	188	c.240 others(207): Show c.2402+1006_2402+1007insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATA TATATACACACACATATATATACATACACATATATATATACACACACACA CAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATATA TATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270760	A A	ATATATAT others(181): Show ATATATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGT GTGTGTGTGTATATATATATATATATATATATATATATATATATATATAT ATATATTTATACACACATATATATACATACACATATATATATACACACAC ACACAGAGTTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0056 a0002c0003t0002g0056	1	244	0.0041	188	c.240 others(207): Show c.2402+1010_2402+1011insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTATATATATATATATATATATATATATATATA TATATATATATATATTTATACACACATATATATACATACACATATATATA TACACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTA TATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270764	A A	ATATATAT others(181): Show ATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGT GTGTGTGTGTGTATATATATATATATATATATATATATATATATATATAT ATATATTTATACACACATATATATACATACACATATATATATACACACAC ACACAGAGTTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	258	0.0039	188	c.240 others(207): Show c.2402+1010_2402+1011insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA TATATATATATATATATATTTATACACACATATATATACATACACATATA TATATACACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAG AGTATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC2A5_chr1_9030106_9074635	9053341	C C	CTATATAT others(181): Show CTATATATATTTATATATATTATATATTTATATATTATATATATTTATAT ATATTATATATTTATATATTATATATATTTATATATATTATATATTTATA TATTATATATATTTATATATATTATATATATTATATATTTATATATTATA TATATTTATATATATTATATATATTATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG01099.hp2 others(18): Show HG00438.hp1 HG00621.hp1 HG01099.hp2 HG01175.hp2 HG01361.hp1 HG01943.hp1 HG01978.hp2 HG02004.hp2 HG02300.hp2 HG03239.hp2 HG03669.hp1 HG04228.hp1 NA18943.hp2 NA18963.hp2 NA18969.hp2 NA18978.hp1 NA18989.hp2 NA18992.hp1 NA19065.hp2 NA19087.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0023 a0001c0001t0005 a0001c0001t0007 a0001c0001t0023	a0001c0001t0005g0001 a0001c0001t0005g0005 a0001c0001t0005g0022 others(13): Show a0001c0001t0005g0001 a0001c0001t0005g0005 a0001c0001t0005g0022 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0035 a0001c0001t0005g0036 a0001c0001t0007g0242 a0001c0001t0007g0261 a0001c0001t0023g0037	21	136	0.1544	188	c.293 others(205): Show c.293+4106_293+4107insATATATAAATATATAATATATATAATAT ATATAAATATATATAATATATAAATATATAATATATATAATATATATAAA TATATATAATATATAAATATATAATATATATAAATATATATAATATATAA ATATATAATATATATAAATATATATAATATATAAATATATAATATATATA AATATATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC35F1_chr6_117902264_118322671	117923726	C C	CATATGTA others(181): Show CATATGTACATATATACATATGTATATATACATATATGTACATATGTACA TATATACATATGTATATATACATATATGTACATATGTACATATATACATA TACATATGTACATATACACATATACATATGTATATATACATATATGTACA CATGTACATATACATATGTATATATGTACATATGTACAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	177	0.0056	188	c.173 others(207): Show c.173+15834_173+15835insCATATATACATATGTATATATACATA TATGTACATATGTACATATATACATATGTATATATACATATATGTACATA TGTACATATATACATATACATATGTACATATACACATATACATATGTATA TATACATATATGTACACATGTACATATACATATGTATATATGTACATATG TACATATATGTA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC41A2_chr12_104796801_104963290	104923206	C C	CAAAAAAT others(181): Show CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG GGAGGCTGAGGCAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02257.hp1 HG02451.hp1 others(8): Show HG01175.hp1 HG02257.hp1 HG02451.hp1 HG02698.hp1 HG02818.hp2 HG02970.hp2 HG03139.hp2 HG03704.hp2 NA18968.hp2 NA19062.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0021 a0001c0001t0048	a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0251 others(8): Show a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0275 a0001c0001t0008g0252 a0001c0001t0010g0305 a0001c0001t0021g0253 a0001c0001t0021g0254 a0001c0001t0048g0167	11	290	0.0379	188	c.555 others(205): Show c.555+4766_555+4767insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAACGCCATTCTCCTG CCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTT	SLC41A2	ENSG00000136052.10	transcript	ENST00000258538.8	protein_coding	2/10			chr12	TogoVar
SLC45A4_chr8_141202174_141313288	141203228	G G	GGAGAGAG others(181): Show GGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG GGAGACCGTGGAGAGAGAGAGAGAGAGGGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0033 a0001c0028t0033	a0001c0028t0033g0020 a0001c0028t0033g0020	1	126	0.0079	188	c.83 others(199): Show c.8343_*8344insTCTCTCTCTCTCTCTCTCCACGGTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCT CTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCTCTCTCTCTCTCCACGG TCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTC TCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3945		chr8	TogoVar
SLC6A18_chr5_1220381_1251189	1238468	G G	GTCAGGTT others(181): Show GTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGA GTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGG CCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18999.hp1 NA18992.hp1 NA18999.hp1	a0006 a0008 a0006 a0008	a0006c0008 a0008c0022 a0006c0008 a0008c0022	a0006c0008t0003 a0008c0022t0003 a0006c0008t0003 a0008c0022t0003	a0006c0008t0003g0204 a0008c0022t0003g0231 a0006c0008t0003g0204 a0008c0022t0003g0231	2	390	0.0051	188	c.732 others(203): Show c.732+460_732+461insGGCCTGGAGGACTCAGGAAAGACATCAGGT TTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCT GGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGA AAGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGT TTGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238642	A A	ACTCAGGA others(181): Show ACTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGA CATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGAGGTCAGGTTTGG AGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAG GACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0003 a0008c0022t0003	a0008c0022t0003g0234 a0008c0022t0003g0234	1	288	0.0035	188	c.732 others(203): Show c.732+620_732+621insCTCAGGAAAGACATCAGGTTTGGAGTGGGC CTGGAGGACTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAG GAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAG GTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGC CTGGAGGA	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(181): Show CCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGC CCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0021 a0001c0006t0021	a0001c0006t0021g0041 a0001c0006t0021g0041	1	187	0.0053	188	c.654 others(203): Show c.654-731_654-730insTGGGCAGCGGTGGGTACCCAGCAGCGTGGG CAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTGGGCA GCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACCCA GCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCA GCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92047543	A A	ATAATATA others(181): Show ATAATATATAAATATATATATATTTATATATTATATATATTTATATATAT TTATATATTATATATATATTTATATATTTATTTATATATTATATATATTT ATATATAATATATAAATATATATAAATATATATATAATATATAAATATAT ATATAAATATATATATAATATATAAATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp1 HG03139.hp1 HG02647.hp1 HG02896.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0024 a0001c0001t0001g0186 a0001c0001t0012g0043 a0001c0001t0001g0024 a0001c0001t0001g0186 a0001c0001t0012g0043	3	170	0.0176	188	c.647 others(207): Show c.647-47338_647-47337insTAATATATAAATATATATATATTTAT ATATTATATATATTTATATATATTTATATATTATATATATATTTATATAT TTATTTATATATTATATATATTTATATATAATATATAAATATATATAAAT ATATATATAATATATAAATATATATATAAATATATATATAATATATAAAT ATATATATAAAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SMAD2_chr18_47803957_47935659	47850388	A A	ATTATGTA others(181): Show ATTATGTATAATATATATATTATATATATTATGTATAATATATATTATAT ATTATATATATATTATATATATTATGTATAATATATATTTTATATATTAT ATATATTATGTATAATATATATTTTATATATTATATATATTATGTATAAT ATATATTATATATTATATATATTATGTATAATATATATT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0189 a0001c0001t0025g0189	1	270	0.0037	188	c.784 others(203): Show c.784+885_784+886insAATATATATTATACATAATATATATAATAT ATAATATATATTATACATAATATATATAATATATAAAATATATATTATAC ATAATATATATAATATATAAAATATATATTATACATAATATATATAATAT ATATATAATATATAATATATATTATACATAATATATATAATATATATATT ATACATAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(181): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATATTATATATATTA TGTATAATATATATTATATATATTATATATTATGTATAATATATATTTTA TATATTATATATATTATGTATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00642.hp1 others(25): Show HG00099.hp2 HG00438.hp1 HG00642.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01257.hp2 HG01258.hp2 HG02074.hp1 HG02258.hp2 HG02273.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp2 HG03490.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp2 NA18906.hp2 NA18943.hp2 NA18981.hp2 NA18989.hp1 NA19009.hp2 NA19057.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 others(21): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0072 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0083 a0001c0001t0087 a0001c0001t0089 a0001c0001t0091 a0001c0001t0095 a0001c0001t0109 a0001c0001t0111 a0001c0001t0122 a0001c0001t0134 a0001c0001t0135 a0001c0001t0138 a0001c0001t0143 a0001c0001t0145 a0001c0001t0182 a0001c0001t0183	a0001c0001t0001g0197 a0001c0001t0001g0252 a0001c0001t0001g0275 others(25): Show a0001c0001t0001g0197 a0001c0001t0001g0252 a0001c0001t0001g0275 a0001c0001t0001g0299 a0001c0001t0015g0246 a0001c0001t0015g0268 a0001c0001t0016g0292 a0001c0001t0017g0199 a0001c0001t0020g0233 a0001c0001t0072g0216 a0001c0001t0075g0086 a0001c0001t0076g0281 a0001c0001t0077g0282 a0001c0001t0083g0274 a0001c0001t0087g0196 a0001c0001t0089g0243 a0001c0001t0091g0297 a0001c0001t0095g0250 a0001c0001t0109g0234 a0001c0001t0111g0226 a0001c0001t0122g0218 a0001c0001t0134g0259 a0001c0001t0135g0267 a0001c0001t0138g0188 a0001c0001t0143g0200 a0001c0001t0145g0242 a0001c0001t0182g0214 a0001c0001t0183g0213	28	180	0.1556	188	c.784 others(203): Show c.784+877_784+878insTAATATATAATATATATTATACATAATATA TATAATATATAAAATATATATTATACATAATATATAATATATATAATATA TATTATACATAATATATATAATATATATAATATATATTATACATAATATA TATAATATATATATAATATATAATATATATTATACATAATATATATAATA TATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(181): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATATTATATATATTA TGTATAATATATATTATATATATTATATATTATGTATAATATATATTTTA TATATTATATATATTATGTATAATATATTTTATATATTA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0260 a0001c0001t0082g0260	1	153	0.0065	188	c.784 others(203): Show c.784+877_784+878insTAATATATAAAATATATTATACATAATATA TATAATATATAAAATATATATTATACATAATATATAATATATATAATATA TATTATACATAATATATATAATATATATAATATATATTATACATAATATA TATAATATATATATAATATATAATATATATTATACATAATATATATAATA TATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(181): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATATTATATATATTA TGTATAATATATATTTTATATATTATATATTATGTATAATATATATTTTA TATATTATATATATTATGTATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0253 a0001c0001t0110g0253	1	153	0.0065	188	c.784 others(203): Show c.784+877_784+878insTAATATATAATATATATTATACATAATATA TATAATATATAAAATATATATTATACATAATATATAATATATAAAATATA TATTATACATAATATATATAATATATATAATATATATTATACATAATATA TATAATATATATATAATATATAATATATATTATACATAATATATATAATA TATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SNAPC4_chr9_136370571_136405170	136403322	G G	GGGGGGAG others(181): Show GGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGG GGGAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGG AGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGA AAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 NA18959.hp2 NA18970.hp2 others(2): Show HG00558.hp1 NA18959.hp2 NA18970.hp2 NA18975.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0046 a0001c0001 a0001c0046	a0001c0001t0001 a0001c0046t0001 a0001c0001t0001 a0001c0046t0001	a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0068 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0068 a0001c0046t0001g0080	5	243	0.0206	188	c.-31 others(199): Show c.-3199_-3198insGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGT CCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCC TTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGTCCCTTT CTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTC CCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3153		chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136403327	G G	GAGAAAGG others(181): Show GAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAG AAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAA GGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGG ACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	370	0.0027	188	c.-32 others(199): Show c.-3204_-3203insTCCCCGGCAAACCCCACCCCTTGCTCCCAGGAAC CCTGTCCCTTTCTTCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCT GTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTC CCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCT TTCT	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3158		chr9	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(181): Show ATATATATAAATATATATAAAAATATATATAAATATATATAAATATATAT ATAAATATATATAAATATATAAATATATAAATATATAAATATATAAAAAT ATATTTATATATATAAATATATAAAAATATATTTATATATATAAATATAT TTATATATAAATATAAATATATGTAAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0075 a0001c0003t0006g0075	1	28	0.0357	188	c.-50 others(199): Show c.-5060_-5059insTATATATAAATATATATAAAAATATATATAAATA TATATAAATATATATATAAATATATATAAATATATAAATATATAAATATA TAAATATATAAAAATATATTTATATATATAAATATATAAAAATATATTTA TATATATAAATATATTTATATATAAATATAAATATATGTAAATATATATA TATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
SNTG2_chr2_945849_1372613	1221471	C C	CTCTGTCT others(181): Show CTCTGTCTCTCTCTGTCTCTTTGTCCCTCTCTGTCTCTCTCTGTCTCTGT CTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCT CTCTGTCACTGTCTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCC CTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0040 a0004c0004t0001g0040	1	188	0.0053	188	c.719 others(207): Show c.719+12242_719+12243insCTGTCTCTCTCTGTCTCTTTGTCCCT CTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCT CTGTCTCTCCCTGTCTCTGTCTCTCTGTCACTGTCTCTGCCTCTGTCTCT GCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCA GTCTCTGGTTTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX6_chr14_34556093_34635148	34557553	C C	CTTCTTCT others(181): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0295 a0001c0001t0003g0295	1	317	0.0032	188	c.55 others(199): Show c.5568_*5569insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAA	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3539		chr14	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(181): Show ATATATATATATAAATATATATATATTTATATATATAAATATATATATAT AAATATATATATATTTATATATATAAATATATATATATAAATATATATAT ATTTATATATATAAATATATATATATAAATATATATATATTTATATATAT AAATATATATATATTTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19012.hp1 NA19058.hp1 NA18986.hp1 NA19012.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0001g0228 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0001g0228	3	87	0.0345	188	c.159 others(205): Show c.1597-362_1597-361insAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATATAAATATATATATATAAA TATATATATATTTATATATATAAATATATATATATAAATATATATATATT TATATATATAAATATATATATATTTATATATATAAATATATATATATTTA TATATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SORCS2_chr4_7187538_7747827	7448836	T T	TTCCCTCC others(181): Show TTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTCTCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA20752.hp2 HG02602.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0002c0004t0004 a0001c0001t0005 a0002c0004t0004	a0001c0001t0005g0014 a0002c0004t0004g0046 a0001c0001t0005g0014 a0002c0004t0004g0046	2	151	0.0132	188	c.548 others(207): Show c.548+52487_548+52488insCCTCCCTCCCTCCCTTCCTCCCTCCC TTCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCC TTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTC CCTTCCTCCCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449221	C C	CCCTCCCT others(181): Show CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01884.hp2 HG01261.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0033 a0001c0001 a0001c0033	a0001c0001t0055 a0001c0033t0062 a0001c0001t0055 a0001c0033t0062	a0001c0001t0055g0092 a0001c0033t0062g0160 a0001c0001t0055g0092 a0001c0033t0062g0160	2	157	0.0127	188	c.548 others(207): Show c.548+52881_548+52882insTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTTCCT CCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(181): Show CCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCT CCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0071 a0001c0010t0002g0071	1	18	0.0556	188	c.54 others(199): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGG AAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(181): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCT CCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 NA18964.hp1 NA19007.hp2 HG03453.hp2 NA18964.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0002 a0001c0001t0002g0017	3	20	0.1500	188	c.54 others(199): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGG AAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(181): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCTCCTC CTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCT CCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	18	0.0556	188	c.54 others(199): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(181): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCT CCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	18	0.0556	188	c.54 others(199): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(181): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTC CTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCT CCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	18	0.0556	188	c.54 others(199): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAAGGGAAGGGAAGGGAAGGG AAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPRING1_chr12_116705171_116743069	116733346	T T	TTAATTTT others(181): Show TTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp2 HG02630.hp2 others(9): Show HG01109.hp1 HG02572.hp2 HG02630.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0033 others(2): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0033 a0001c0001t0069 a0001c0001t0077	a0001c0001t0006g0006 a0001c0001t0006g0070 a0001c0001t0009g0091 others(3): Show a0001c0001t0006g0006 a0001c0001t0006g0070 a0001c0001t0009g0091 a0001c0001t0033g0027 a0001c0001t0069g0071 a0001c0001t0077g0072	12	340	0.0353	188	c.111 others(205): Show c.111+4443_111+4444insGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAATTA	SPRING1	ENSG00000111412.6	transcript	ENST00000261318.5	protein_coding	1/4			chr12	TogoVar
STXBP3_chr1_108741674_108814523	108772352	A A	ATATCTAT others(181): Show ATATCTATATATCATATATAAATACATATGATATCTATATATCATATATA AATACATATGATATCTATATATCATATATAAATACATATATCTATCTATA TATCATATATAAATACATATGATATCTATCTATATATCATATATAAATAC ATATGATATCTATCTGTATCATATATAAATACATATATC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01981.hp1 HG01175.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0306 a0001c0001t0001g0300 a0001c0001t0001g0306	2	171	0.0117	188	c.439 others(203): Show c.439-308_439-307insATATATCATATATAAATACATATGATATCT ATATATCATATATAAATACATATGATATCTATATATCATATATAAATACA TATATCTATCTATATATCATATATAAATACATATGATATCTATCTATATA TCATATATAAATACATATGATATCTATCTGTATCATATATAAATACATAT ATCTATCT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
SVEP1_chr9_110360248_110584741	110390341	T T	TTATATAT others(181): Show TTATATATACTTATATAAGTATGTGTATATATACGTATATATATACTTAT ATAAGTATATATATACGTATATATATACTTATATATATACTTATATAAGT ATATATATACGTATATATATACTTATATATATACTTATATAAGTATATAT ATACTTATATAAGTATATATATACGTATATATACTTATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0045 a0045	a0045c0058 a0045c0058	a0045c0058t0001 a0045c0058t0001	a0045c0058t0001g0207 a0045c0058t0001g0207	1	198	0.0051	188	c.982 others(205): Show c.9823-755_9823-754insTATAAGTATATATACGTATATATATACT TATATAAGTATATATATACTTATATAAGTATATATATAAGTATATATATA CGTATATATATACTTATATAAGTATATATATAAGTATATATATACGTATA TATATACTTATATAAGTATATATATACGTATATATACACATACTTATATA AGTATATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110390341	T T	TTATATAT others(181): Show TTATATATACTTATATAAGTATGTGTATATATACGTATATATATACTTAT ATAAGTATATATATACGTATATATATACTTATATATATACTTATATAAGT ATATATATACGTATATATATACTTATATATATACTTATATAAGTATATAT ATACTTATATAAGTATATATATACTTATATATACTTATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0045 a0045	a0045c0058 a0045c0058	a0045c0058t0013 a0045c0058t0013	a0045c0058t0013g0131 a0045c0058t0013g0131	1	198	0.0051	188	c.982 others(205): Show c.9823-755_9823-754insTATAAGTATATATAAGTATATATATACT TATATAAGTATATATATACTTATATAAGTATATATATAAGTATATATATA CGTATATATATACTTATATAAGTATATATATAAGTATATATATACGTATA TATATACTTATATAAGTATATATATACGTATATATACACATACTTATATA AGTATATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
TANC2_chr17_62961235_63432703	62996974	T T	TGGCTAAT others(181): Show TGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02559.hp1 HG02886.hp1 others(2): Show HG00741.hp1 HG02559.hp1 HG02886.hp1 HG03098.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0049 a0001c0001t0003g0097 a0001c0001t0003g0098 others(2): Show a0001c0001t0002g0049 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100	5	115	0.0435	188	c.-23 others(207): Show c.-23-12543_-23-12542insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATT TTTTGTATTTTT	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79929965	T T	TCCCCTCC others(181): Show TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCTCTCCCC TCTCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCC TCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCCTCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0186 a0001c0003t0003g0186	1	37	0.0270	188	c.10 others(201): Show c.10893_*10894insGGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGG GAGGGGAGGAGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGG GAGGAGAGGGGAGAGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2377		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79929965	T T	TCCCCTCC others(181): Show TCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCTCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTCC TCTCCTCCCCTCCCCTCCTCTCCCCTCCTCTCCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0195 a0001c0003t0014g0195	1	37	0.0270	188	c.10 others(201): Show c.10893_*10894insGAGAGGGGAGAGGAGGGGAGAGGAGGGGAGGG GAGGAGAGGAGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGAGAGGA GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGG GAGGGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2377		chr17	TogoVar
TCN2_chr22_30602174_30632271	30623975	T T	TGTATACA others(181): Show TGTATACATATATACACACACATATGTATACATATATACACACACATATA TGTATACATATATACACACACATATATGTATACATATATACACACACATA TGTATACATATATACACACACATATGTATACATATACACACACATATGTA TACATATACACACACATATGTATACATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0230 a0003c0003t0004g0230	1	361	0.0028	188	c.122 others(205): Show c.1222+892_1222+893insGTATACATATATACACACACATATGTAT ACATATATACACACACATATATGTATACATATATACACACACATATATGT ATACATATATACACACACATATGTATACATATATACACACACATATGTAT ACATATACACACACATATGTATACATATACACACACATATGTATACATAT ATACACACAC	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8			chr22	TogoVar
TCN2_chr22_30602174_30632271	30624051	C C	CATACATA others(181): Show CATACATATGTATACATATATACACACACATACATATGTATACATATATA CACACACATACATATGTATACATATATACACACACATACATATGTATACA TATATACACACACATACATATGTATACATATATACACACACATACATATG TATACATATATACACACACATACATATGTATACATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 NA19043.hp2 HG02572.hp1 HG02723.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0016	3	353	0.0085	188	c.122 others(205): Show c.1222+969_1222+970insTACATATGTATACATATATACACACACA TACATATGTATACATATATACACACACATACATATGTATACATATATACA CACACATACATATGTATACATATATACACACACATACATATGTATACATA TATACACACACATACATATGTATACATATATACACACACATACATATGTA TACATATATA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGATCAC others(181): Show CCGATCACCATCCAGTCACCACACATCAGACCCCACGACTGCCATCCACA GTCACCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGT GACCGATCACCATCCACAGTCACCACACATCAGACCCCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01169.hp2 HG01192.hp2 others(10): Show HG01109.hp1 HG01169.hp2 HG01192.hp2 HG01928.hp2 HG01952.hp2 HG01981.hp2 HG02135.hp1 HG02300.hp2 NA18944.hp1 NA18952.hp2 NA18975.hp2 NA18977.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0003t0001g0007 others(8): Show a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0241 a0001c0003t0001g0269 a0001c0003t0001g0272 a0001c0003t0001g0287 a0001c0003t0001g0332 a0001c0003t0001g0342 a0001c0004t0001g0090	13	110	0.1182	188	c.228 others(207): Show c.2287-1509_2287-1508insTGGGGTCTGATGTGTGGTGACTGTGG ATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCT GATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACT GGATGGTGATCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar

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