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
SLURP2_chr8_142759338_142774828	142760766	C C	CCATACAA others(91): Show CCATACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCAC CATACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTGTCATGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	302	0.0033	98	c.38 others(109): Show c.3838_*3839insCTGCATGACAAACCACTGAATTACCCACTGTAAA CGGGTGGATTGTATGGTGCGTGAGAAACCACTGAATTACCCACTGTAAAC GGGTGGATTGTATG	SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding		3571		chr8	TogoVar
SLURP2_chr8_142759338_142774828	142760792	C C	CTAATTCA others(91): Show CTAATTCAGTGGTTTCTCACGCACCATACAATCCACCCGTTTACAGTGGG TAATTCAGTGGTTTGTCACGCAGCATACAATCCACCCGTTTACAGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	281	0.0036	98	c.38 others(109): Show c.3812_*3813insCCCACTGTAAACGGGTGGATTGTATGCTGCGTGA CAAACCACTGAATTACCCACTGTAAACGGGTGGATTGTATGGTGCGTGAG AAACCACTGAATTA	SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding		3545		chr8	TogoVar
SLURP2_chr8_142759338_142774828	142760792	C C	CTAATTCA others(91): Show CTAATTCAGTGGTTTCTCACGCACCATACAATCCACCCGTTTACAGTGGG TAATTCAGTGGTTTGTCATGCAGCATACAATCCACCCGTTTACAGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG01884.hp2 others(12): Show HG01109.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG02683.hp1 HG03139.hp1 HG03486.hp2 NA18950.hp2 NA18998.hp2 NA18999.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19084.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0003g0007 a0001c0001t0003g0014 others(4): Show a0001c0001t0001g0004 a0001c0001t0003g0007 a0001c0001t0003g0014 a0001c0001t0003g0024 a0001c0001t0003g0051 a0001c0001t0004g0029 a0001c0001t0004g0050	15	295	0.0508	98	c.38 others(109): Show c.3812_*3813insCCCACTGTAAACGGGTGGATTGTATGCTGCATGA CAAACCACTGAATTACCCACTGTAAACGGGTGGATTGTATGGTGCGTGAG AAACCACTGAATTA	SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding		3545		chr8	TogoVar
SLURP2_chr8_142759338_142774828	142760913	C C	CCATACAA others(91): Show CCATACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTGTCACGCAG CATACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTGTCACGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	310	0.0032	98	c.36 others(109): Show c.3691_*3692insCTGCGTGACAAACCACTGAATTACCCACTGTAAA CGGGTGGATTGTATGCTGCGTGACAAACCACTGAATTACCCACTGTAAAC GGGTGGATTGTATG	SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding		3424		chr8	TogoVar
SNTG2_chr2_945849_1372613	1222115	G G	GTCTCTGT others(91): Show GTCTCTGTCTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCT CTCTGTCTCTGTCTCTCTCTCTGTCTCTCTGTCTCTCTCTGTCTCTGTC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0182 a0008c0011t0001g0182	1	151	0.0066	98	c.719 others(117): Show c.719+12890_719+12891insGTCTCTCTCTCTGTCTCTGTCTCTCT CTGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTCTGTCTCTCTGT CTCTCTCTGTCTCTGTCTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX29_chr16_11971734_12579287	12476417	T T	TATATATA others(91): Show TATATATATATATATATATACATATATATATATATATATATATACATATA TATATATATATATATATATACATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0079 a0001c0002t0079	a0001c0002t0079g0021 a0001c0002t0079g0021	1	161	0.0062	98	c.203 others(117): Show c.2038-1283_2038-1282insCATATATATATATATATATATATACA TATATATATATATATATATATATACATATATATATATATATATATATATA TACATATATATATATATATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SOCS7_chr17_38346844_38410593	38389892	T T	TATATATA others(91): Show TATATATATATATATATGTACATATATATATGTATATATGTACATATATA TATATATATATATATATGTACATATATATATATATATATATATATGTAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0032 a0001c0004t0032	a0001c0004t0032g0023 a0001c0004t0032g0023	1	231	0.0043	98	c.168 others(117): Show c.1682-5410_1682-5409insTATATATATGTACATATATATATGTA TATATGTACATATATATATATATATATATATATGTACATATATATATATA TATATATATATGTACATATATA	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38389892	T T	TATATATG others(91): Show TATATATGTACATATATATATATATGTACATATATATATATATATATATG TACATATATATATGTACATATATATATGTACATATATATATATATGTAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0101 a0001c0002t0008g0101	1	231	0.0043	98	c.168 others(117): Show c.1682-5411_1682-5410insGTACATATATATATATATGTACATAT ATATATATATATATATGTACATATATATATGTACATATATATATGTACAT ATATATATATATGTACATATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38389892	T T	TATATATG others(91): Show TATATATGTACATATATATATATATGTACATATATATATATGTACATATA TATATGTACATATATATATATGTACATATATATATATATATATATGTAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0100 a0001c0002t0006g0100	1	231	0.0043	98	c.168 others(117): Show c.1682-5411_1682-5410insGTACATATATATATATATGTACATAT ATATATATGTACATATATATATGTACATATATATATATGTACATATATAT ATATATATATATGTACATATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SORCS2_chr4_7187538_7747827	7387350	A A	ACACATGC others(91): Show ACACATGCACATACACATATGTACACACGCACACAGGCACACACATACAG GTACACGGAGATATGCACATGCACACACATACACACACATACACATTTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0018 a0003c0013t0018	a0003c0013t0018g0100 a0003c0013t0018g0100	1	134	0.0075	98	c.481 others(115): Show c.481-8934_481-8933insTGCACATACACATATGTACACACGCACA CAGGCACACACATACAGGTACACGGAGATATGCACATGCACACACATACA CACACATACACATTTGCACA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPAAR_chr9_35904490_35916686	35914181	T T	TGTGTGTG others(91): Show TGTGTGTGTTTTTGTATGCTGTGATGTGTGTGTAAGTTGTATGTGTGTAG TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02647.hp2 others(1): Show HG02258.hp2 HG02559.hp2 HG02647.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0010 a0001c0001t0004g0004 a0001c0001t0004g0010	4	416	0.0096	98	c.34 others(109): Show c.3490_*3491insGTGTGTGTTTTTGTATGCTGTGATGTGTGTGTAA GTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2496		chr9	TogoVar
SPAG9_chr17_50957174_51125868	50979441	G G	GTTCACTA others(91): Show GTTCACTACTCCTGAGATAACTTAATTCATTGGTTCTACCCAGCATTTTA GACTATTTAAAAATAAAAACAAGGACTGGGTGAGGTGGCTGTGCCTACC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	290	0.0034	98	c.340 others(115): Show c.3409+207_3409+304dupGGTAGGCACAGCCACCTCACCCAGTCCT TGTTTTTATTTTTAAATAGTCTAAAATGCTGGGTAGAACCAATGAATTAA GTTATCTCAGGAGTAGTGAA	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	26/29			chr17	TogoVar
SPOCK3_chr4_166728384_167239494	167108993	T T	TATATAAA others(91): Show TATATAAAAATATATATAAATATTATATATTTATATAAAAATATATATAA ATATTATATATTTATATAAATAAATATATAAAAATATATATTTATATAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	141	0.0071	98	c.190 others(117): Show c.190-46457_190-46456insTTATATAAATATATATTTTTATATAT TTATTTATATAAATATATAATATTTATATATATTTTTATATAAATATATA ATATTTATATATATTTTTATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167108995	T T	TATAAAAA others(91): Show TATAAAAATATATATAAATATTATATATTTATATAAAAATATATATAAAT ATTATATATTTATATAAATAAATATATAAAAATATATATTTATATAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0003 a0001c0004t0003g0003	1	74	0.0135	98	c.190 others(117): Show c.190-46459_190-46458insTTTTATATAAATATATATTTTTATAT ATTTATTTATATAAATATATAATATTTATATATATTTTTATATAAATATA TAATATTTATATATATTTTTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167205372	A A	ATATATAA others(91): Show ATATATAATATATATTATATATTATATATAAAATATATATATTATATATT ATATATAATATATATTATATATTATATATAAAATATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	138	0.0072	98	c.189 others(117): Show c.189+28612_189+28613insATATATAATATATATATTTTATATAT AATATATAATATATATTATATATAATATATAATATATATATTTTATATAT AATATATAATATATATTATATA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPPL2B_chr19_2323684_2360095	2349309	A A	ACACTCAC others(91): Show ACACTCACGCTCTCATTCGCTTGATTCCGTTCTCTCTCTCTCCACACACA CTCACGCTCTCATTCGCTTGATTCCGTTCTCTCTCTCTCCACACACACT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA20905.hp2 HG02027.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0005 a0001c0001t0002 a0001c0009t0005	a0001c0001t0002g0239 a0001c0009t0005g0084 a0001c0001t0002g0239 a0001c0009t0005g0084	2	251	0.0080	98	c.135 others(117): Show c.1355-2122_1355-2121insTCACGCTCTCATTCGCTTGATTCCGT TCTCTCTCTCTCCACACACACTCACGCTCTCATTCGCTTGATTCCGTTCT CTCTCTCTCCACACACACTCAC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTLC2_chr14_77500997_77621637	77531443	T T	TCTTCTTC others(91): Show TCTTCTTCTTCTTCTTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTCCTCCTCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0175 a0001c0001t0005g0175	1	218	0.0046	98	c.130 others(117): Show c.1304-9863_1304-9862insGAGGAGGAGGAGGAGGAGGAGGAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAAAGAAGAAGAAGAAG	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77531443	T T	TCTTCTTC others(91): Show TCTTCTTCTTCTTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0228 a0001c0001t0004g0228	1	218	0.0046	98	c.130 others(117): Show c.1304-9863_1304-9862insGAGGAGGAGGAGGAGGAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAAAGAAGAAGAAG	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443514	T T	TGTGTGTG others(91): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTTTTGAGATGGAGTTTTCCTCTCATTACCCAGCTGGAGGGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0142 a0001c0001t0006g0142	1	333	0.0030	98	c.113 others(115): Show c.113-8211_113-8210insCCCCTCCAGCTGGGTAATGAGAGGAAAA CTCCATCTCAAAACACACACACACACACACACACACACACACACACACAC ACACACACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SREBF1_chr17_17806334_17841986	17816189	G G	GCCCCCCA others(91): Show GCCCCCCAACCCCCCCACCCCCCGCCACCCCCACACCCCTGCCACCCCCC AGCCCCACCCCCCCACCCCCAATCCCCCCACCCTCCCCACTCCCGCCAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	329	0.0030	98	c.221 others(113): Show c.2214+17_2214+18insATGGCGGGAGTGGGGAGGGTGGGGGGATTG GGGGTGGGGGGGTGGGGCTGGGGGGTGGCAGGGGTGTGGGGGTGGCGGGG GGTGGGGGGGTTGGGGGG	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	11/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17816189	G G	GCCCCCCA others(91): Show GCCCCCCAACCCCCCCCACCCCCGCCACCCCACACCCCTGCCACCCCCCA GCCCCACCCCCCCCACCCCCAATCCCCCCACCCTCCCCACTCCCGCCAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	329	0.0030	98	c.221 others(113): Show c.2214+17_2214+18insATGGCGGGAGTGGGGAGGGTGGGGGGATTG GGGGTGGGGGGGGTGGGGCTGGGGGGTGGCAGGGGTGTGGGGTGGCGGGG GTGGGGGGGGTTGGGGGG	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	11/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17816189	G G	GCCCCCCA others(91): Show GCCCCCCAACCCCCCCCACCCCCGCCACCCCCACACCCCTGCCACCCCCC AGCCCCACCCCCCCACCCCCAATCCCCCCACCCTCCCCACTCCCGCCAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	329	0.0030	98	c.221 others(113): Show c.2214+17_2214+18insATGGCGGGAGTGGGGAGGGTGGGGGGATTG GGGGTGGGGGGGTGGGGCTGGGGGGTGGCAGGGGTGTGGGGGTGGCGGGG GTGGGGGGGGTTGGGGGG	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	11/18			chr17	TogoVar
SRFBP1_chr5_121956975_122033633	121961698	A A	AACGAACA others(91): Show AACGAACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0037 a0002c0003t0002g0037	1	130	0.0077	98	c.-33 others(107): Show c.-335_-334insACGAACACACACACACACACACACACACACACACAC ACACACACACACACACACACACACACACACACACACACACACACACACAC ACACACACACAC	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		276		chr5	TogoVar
SRFBP1_chr5_121956975_122033633	121961746	C C	CACACACA others(91): Show CACACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACACACACACACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0158 a0008c0017t0001g0158	1	73	0.0137	98	c.-28 others(107): Show c.-287_-286insACACACACACACACACACACACACACACACACACAC ACACACACACACACACACACACACACACACACACACACACACACACACAC ACACACACACAA	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		228		chr5	TogoVar
SRP68_chr17_76033785_76077517	76062643	A A	ATATATAA others(91): Show ATATATAATATACATTATATATTATATAATATATAATATACATTATATAT TATATAATATATAATATACATTATATATTATATAATATATAATATACAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0308 a0001c0003t0001g0308	1	344	0.0029	98	c.562 others(115): Show c.562-1070_562-1069insATGTATATTATATATTATATAATATATA ATGTATATTATATATTATATAATATATAATGTATATTATATATTATATAA TATATAATGTATATTATATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SSU72_chr1_1536673_1579863	1543602	T T	TCTGTCAC others(91): Show TCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCCCC TCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0258 a0001c0001t0004g0258	1	384	0.0026	98	c.483 others(113): Show c.483+169_483+266dupGGGAGTGGCCGAGGCCGTGACAGTGGGGAG TGGCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGTGGGGAG TGGCCGAGGCCGTGACAG	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	4/4			chr1	TogoVar
ST13_chr22_40819535_40861639	40821796	A A	ATATATAC others(91): Show ATATATACGTATATATGTATACATATATACGTATATATACGTATATATGT ATACATATATACGTATATATATACGTATATATATACACATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0020	2	341	0.0059	98	c.47 others(109): Show c.4741_*4742insCGTATATATATGTGTATATATATACGTATATATA TACGTATATATGTATACATATATACGTATATATACGTATATATGTATACA TATATACGTATATA	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		2738		chr22	TogoVar
ST6GAL1_chr3_186925526_187083553	186958464	T T	TAATATTG others(91): Show TAATATTGAATATCTAATATTGAAAAATATTAGATATTGAAATTTCAATA TCTAATTGAATATCTATTGAAATATCAATTAGATATTTCAATATTGAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0042 a0001c0002t0008g0042	1	360	0.0028	98	c.-32 others(117): Show c.-324-5312_-324-5311insTATCTAATATTGAAAAATATTAGATA TTGAAATTTCAATATCTAATTGAATATCTATTGAAATATCAATTAGATAT TTCAATATTGAAAAATATTGAA	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ST8SIA5_chr18_46662821_46762053	46725972	A A	AAAAAAAT others(91): Show AAAAAAATATATATATATATATATCCTGGATATATATATATATATATATA TATCCTGGATATATATATATATATATATATATATATATCCAGGATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	199	0.0050	98	c.132 others(117): Show c.132-21309_132-21308insATATATCCTGGATATATATATATATA TATATATATATATATCCAGGATATATATATATATATATATATATCCAGGA TATATATATATATATATTTTTT	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
STARD9_chr15_42570606_42725998	42712097	A A	ATATATAT others(91): Show ATATATATATATATATATATATAAAATATAAAATATAAATATATAATATA TATTATATATAATATATATTATATATATTATATATATAATATATATATT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0023 a0023	a0023c0028 a0023c0028	a0023c0028t0005 a0023c0028t0005	a0023c0028t0005g0117 a0023c0028t0005g0117	1	135	0.0074	98	c.132 others(119): Show c.13285-4580_13285-4579insTATATATATATATATATATATAAA ATATAAAATATAAATATATAATATATATTATATATAATATATATTATATA TATTATATATATAATATATATATT	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	26/32			chr15	TogoVar
STK10_chr5_172037079_172193224	172076316	C C	CGTCCTGT others(91): Show CGTCCTGTGCGTTAGTTGTGGGGGCGTCCTGTGCGTTAGTTGTGGGGGCT GTCCTGTGCGTTAGTTGTGGGGGCGTCCTGTGTATTTGTTGTGGGGGCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02572.hp2 others(6): Show HG01109.hp2 HG02145.hp1 HG02572.hp2 HG02622.hp1 HG02809.hp2 HG02965.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 others(1): Show a0001c0002 a0001c0004 a0001c0006 a0001c0007	a0001c0002t0039 a0001c0004t0003 a0001c0004t0007 others(5): Show a0001c0002t0039 a0001c0004t0003 a0001c0004t0007 a0001c0006t0002 a0001c0006t0003 a0001c0006t0007 a0001c0006t0016 a0001c0007t0040	a0001c0002t0039g0028 a0001c0004t0003g0228 a0001c0004t0007g0080 others(6): Show a0001c0002t0039g0028 a0001c0004t0003g0228 a0001c0004t0007g0080 a0001c0006t0002g0092 a0001c0006t0003g0062 a0001c0006t0007g0072 a0001c0006t0007g0073 a0001c0006t0016g0215 a0001c0007t0040g0112	9	215	0.0419	98	c.198 others(117): Show c.1989+6009_1989+6010insAGCCCCCACAACAAATACACAGGACG CCCCCACAACTAACGCACAGGACAGCCCCCACAACTAACGCACAGGACGC CCCCACAACTAACGCACAGGAC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	12/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172153288	A A	AAAAGAAA others(91): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0062 a0001c0006t0003g0062	1	7	0.1429	98	c.321 others(115): Show c.321+3335_321+3336insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	2/18			chr5	TogoVar
STK33_chr11_8386870_8599228	8571891	A A	ATTTTAAA others(91): Show ATTTTAAAAAAATTTAAATTAAAATTAAATTTTAATTTTAAAAAATTTAA ATTAAAATTAAATTTTAATTTTAAAAAATTTAAATTAAAATTAAATTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01346.hp1 others(6): Show HG00099.hp1 HG00323.hp1 HG01346.hp1 HG02055.hp1 HG02896.hp2 HG02897.hp2 HG03831.hp2 HG03942.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0008 a0001c0001t0010	a0001c0001t0008g0156 a0001c0001t0008g0157 a0001c0001t0008g0158 others(6): Show a0001c0001t0008g0156 a0001c0001t0008g0157 a0001c0001t0008g0158 a0001c0001t0008g0165 a0001c0001t0010g0166 a0001c0001t0010g0167 a0001c0001t0010g0169 a0001c0001t0010g0319 a0001c0001t0010g0320	9	324	0.0278	98	c.-46 others(119): Show c.-466+22191_-466+22192insAAAATTTAATTTTAATTTAAATTT TTTAAAATTAAAATTTAATTTTAATTTAAATTTTTTAAAATTAAAATTTA ATTTTAATTTAAATTTTTTTAAAA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STOML3_chr13_38960925_38995831	38988054	T T	TTATATTT others(91): Show TTATATTTTATATCATATATTTTATATCATATATTTTATATCTAATATAT TATATTTTATATAAAATATATGATATTTTATATCATATATTTTATATAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(55): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00639.hp2 HG00741.hp1 HG01168.hp1 HG01169.hp2 HG01884.hp2 HG01891.hp1 HG02027.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02572.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03195.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp2 HG03704.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18941.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18986.hp2 NA18987.hp2 NA18990.hp2 NA18993.hp2 NA19005.hp1 NA19030.hp2 NA19062.hp1 NA19078.hp1 NA19084.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0002c0002t0002	a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0296 others(48): Show a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0313 a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0307 a0001c0001t0002g0311 a0001c0001t0002g0314 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0003g0278 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0292 a0001c0001t0004g0271 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0006g0036 a0001c0001t0006g0272 a0001c0001t0006g0287 a0001c0001t0006g0290 a0001c0001t0009g0282 a0002c0002t0002g0275	58	340	0.1706	98	c.52+ others(113): Show c.52+2615_52+2616insTTATATAAAATATATGATATAAAATATCAT ATATTTTATATAAAATATAATATATTAGATATAAAATATATGATATAAAA TATATGATATAAAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STRN_chr2_36832698_36971536	36966898	A A	AACACACA others(91): Show AACACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACACACACACCCTGTTGCATTTAAAAACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0230 a0001c0005t0006g0230	1	100	0.0100	98	c.-43 others(107): Show c.-436_-435insGTGTGTGTGTGTTTTTAAATGCAACAGGGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding		363		chr2	TogoVar
SVEP1_chr9_110360248_110584741	110390353	A A	ATATAAGT others(91): Show ATATAAGTATGTGTATATATACTTATATATATACTTATATAAGTATATAT ATACTTATATATATACTTATATATATACTTATATAAGTATATATATACT	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA20129.hp2 HG03579.hp1 NA20129.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0004 a0005c0007t0004	a0005c0007t0004g0087 a0005c0007t0004g0206 a0005c0007t0004g0087 a0005c0007t0004g0206	2	237	0.0084	98	c.982 others(115): Show c.9823-767_9823-766insAGTATATATATACTTATATAAGTATATA TATAAGTATATATATAAGTATATATATACTTATATAAGTATATATATAAG TATATATACACATACTTATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SYNM_chr15_99100080_99140593	99104532	C C	CATATATA others(91): Show CATATATATATATGTGTGTATATATATATATATATATATATATATATATA TGTATATATATATATGTATATATATGTGTATATATATATATGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0007 a0016c0023t0007	a0016c0023t0007g0214 a0016c0023t0007g0214	1	374	0.0027	98	c.-66 others(107): Show c.-668_-667insATATATATATATGTGTGTATATATATATATATATAT ATATATATATATATGTATATATATATATGTATATATATGTGTATATATAT ATATGTGTGTGT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		547		chr15	TogoVar
SYNPR_chr3_63273308_63621924	63313834	C C	CATATATA others(91): Show CATATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATATCCATATATATATATATCCATATATATATATATCCAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	224	0.0045	98	c.84+ others(115): Show c.84+35104_84+35105insATCCATATATATATATATCCATATATAT ATATATCCATATATATATATATCCATATATATATATATCCATATATATAT ATATCCATATATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT14_chr1_209933217_210176315	209990547	A A	ATACGTAT others(91): Show ATACGTATATATACGTATATATACGTATATATATATATACGTATATATAT ATACGTATATATACGTATATATATATACGTATATATACGTATATATACG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01168.hp2 HG01192.hp1 others(4): Show HG01081.hp1 HG01168.hp2 HG01192.hp1 HG01928.hp1 HG01943.hp2 HG01993.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0034 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0034 a0001c0001t0068	a0001c0001t0003g0161 a0001c0001t0003g0184 a0001c0001t0003g0185 others(4): Show a0001c0001t0003g0161 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0006g0157 a0001c0001t0006g0166 a0001c0001t0034g0171 a0001c0001t0068g0178	7	154	0.0455	98	c.62- others(115): Show c.62-23085_62-23084insACGTATATATACGTATATATACGTATAT ATATATATACGTATATATATATACGTATATATACGTATATATATATACGT ATATATACGTATATATACGT	SYT14	ENSG00000143469.21	transcript	ENST00000367019.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SYT14_chr1_209933217_210176315	209990547	A A	ATACGTAT others(91): Show ATACGTATATATATACGTATATATATGTATATATATATACGTATATATAT ACGTATATATATGTATATATATATACGTATATATATACGTATATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03579.hp2 HG01109.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0232 a0001c0001t0020g0233 a0001c0001t0020g0232 a0001c0001t0020g0233	2	149	0.0134	98	c.62- others(115): Show c.62-23085_62-23084insACGTATATATATACGTATATATATGTAT ATATATATACGTATATATATACGTATATATATGTATATATATATACGTAT ATATATACGTATATATATGT	SYT14	ENSG00000143469.21	transcript	ENST00000367019.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SYT1_chr12_78859774_79457008	79179500	G G	GATATAGA others(91): Show GATATAGATATAGATATATCTATATAGATATAGATATAGATATATCTATA TAGATATAGATATAGATATATCTATATAGATATAGATATAGATATATCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02922.hp2 HG01243.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0038 a0001c0001t0009g0016 a0001c0001t0006g0038 a0001c0001t0009g0016	2	60	0.0333	98	c.-17 others(117): Show c.-17-37960_-17-37959insTCTATATAGATATAGATATAGATATA TCTATATAGATATAGATATAGATATATCTATATAGATATAGATATATCTA TATAGATATAGATATAGATATA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT1_chr12_78859774_79457008	79179526	G G	GATATAGA others(91): Show GATATAGATATAGATATATCTATATAGATATAGATATAGATATATCTATA TAGATATAGATATAGATATATCTATATAGATATAGATATAGATATATCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0009 a0001c0003t0005g0009	1	53	0.0189	98	c.-17 others(117): Show c.-17-37960_-17-37959insTCTATATAGATATAGATATAGATATA TCTATATAGATATAGATATAGATATATCTATATAGATATAGATATAGATA TATCTATATAGATATAGATATA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
TACC2_chr10_121984163_122259542	122028944	T T	TCCTCTCC others(91): Show TCCTCTCCCCTCCCCTTCCCTTCCCTTCCCTCCCCTCGCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0127 a0005c0007t0002g0127	1	304	0.0033	98	c.33+ others(113): Show c.33+6930_33+6931insCCTCTCCCCTCCCCTTCCCTTCCCTTCCCT CCCCTCGCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTCCCTT CCCTTCCCTTCCCTTCCC	TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	2/22			chr10	TogoVar
TAF4_chr20_61969798_62070881	61981784	A A	ACAACCCA others(91): Show ACAACCCACACCCACCGGAGAGGAGACATCAAACCCACACCCACCCGAGA GGAGACACCAAACTCACACCCCACCCGAGAGGAGACATCAAACCCACAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0283 a0001c0002t0001g0283	1	308	0.0032	98	c.309 others(117): Show c.3091-5450_3091-5449insGTGTGGGTTTGATGTCTCCTCTCGGG TGGGGTGTGAGTTTGGTGTCTCCTCTCGGGTGGGTGTGGGTTTGATGTCT CCTCTCCGGTGGGTGTGGGTTG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61981784	A A	ACAACCCA others(91): Show ACAACCCACACCCACCGGAGAGGAGACATCAAACCCACACCCACCCGAGA GGAGACACCAAACTCACACCCCACCCGAGAGGAGATATCAAACCCACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0053 a0001c0003t0001g0053	1	308	0.0032	98	c.309 others(117): Show c.3091-5450_3091-5449insGTGTGGGTTTGATATCTCCTCTCGGG TGGGGTGTGAGTTTGGTGTCTCCTCTCGGGTGGGTGTGGGTTTGATGTCT CCTCTCCGGTGGGTGTGGGTTG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAOK1_chr17_29385363_29556903	29397679	G G	GTATACAT others(91): Show GTATACATGTATATTCATGTATGATACATGTATACATGTATACATGTATA TTCATGTATGATACATGTATACATGTATATTCATGTATGCATACATGAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01928.hp1 HG01943.hp2 others(5): Show HG00741.hp1 HG01928.hp1 HG01943.hp2 HG02273.hp1 NA18952.hp1 NA18993.hp1 NA19054.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0055 a0001c0001t0006 a0001c0001t0014 a0001c0001t0055	a0001c0001t0006g0263 a0001c0001t0006g0267 a0001c0001t0006g0268 others(5): Show a0001c0001t0006g0263 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0296 a0001c0001t0014g0266 a0001c0001t0014g0278 a0001c0001t0014g0293 a0001c0001t0055g0264	8	323	0.0248	98	c.-95 others(115): Show c.-95+6677_-95+6678insATACATGTATACATGTATACATGTATAT TCATGTATGATACATGTATACATGTATATTCATGTATGCATACATGAATA TACATGTATATTCATGTATG	TAOK1	ENSG00000160551.12	transcript	ENST00000261716.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBATA_chr10_70766238_70790377	70767624	A A	AAGAGAGA others(91): Show AAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAA GAGAGAAAGAGAGAAAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	361	0.0028	98	c.37 others(109): Show c.3751_*3752insCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCT TTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTT CTCTCTTTCTCTCT	TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding		3613		chr10	TogoVar
TBATA_chr10_70766238_70790377	70767624	A A	AAGAGAGA others(91): Show AAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAA GAGAGAGAAGAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0207 a0002c0003t0001g0207	1	361	0.0028	98	c.37 others(109): Show c.3751_*3752insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT TCTCTCTTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTT CTCTCTTTCTCTCT	TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding		3613		chr10	TogoVar
TBATA_chr10_70766238_70790377	70767660	A A	AAGAAAGA others(91): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	163	0.0061	98	c.37 others(109): Show c.3715_*3716insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding		3577		chr10	TogoVar
TBC1D31_chr8_123067707_123157153	123121199	C C	CCGCCCAC others(91): Show CCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCCCCA GCACCCGGCATTTTATCTATTAAAAATAACAATGTTATAACTATCTTCA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp2 HG03486.hp2 others(1): Show HG02809.hp1 HG02965.hp2 HG03486.hp2 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0001 a0001c0003t0001 a0001c0009t0001	a0001c0003t0001g0146 a0001c0009t0001g0069 a0001c0009t0001g0070 others(1): Show a0001c0003t0001g0146 a0001c0009t0001g0069 a0001c0009t0001g0070 a0001c0009t0001g0163	4	320	0.0125	98	c.157 others(117): Show c.1570+1058_1570+1059insCAGCACCCGGCATTTTATCTATTAAA AATAACAATGTTATAACTATCTTCACGCCCACCTCGGCCTCCCAAAGTGC TGGGATTACAGACGTGAGCCCC	TBC1D31	ENSG00000156787.17	transcript	ENST00000287380.6	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr8	TogoVar

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