Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
SIGIRR_chr11_400716_419999	401552	G G	GCCCGCTC others(392): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACAC CCGCCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCG GCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACC CGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCT CACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACAC CCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	67	0.0149	399	c.43 others(410): Show c.4343_*4344insGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCG GGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGT GAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCG GGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGG CGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGG GTGTGAGCGGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGG TGAGCGGGGCGGGTGTGAGCGGGCCGGGTGTGAGCGGGGCGGGTGTGAGC GGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGG GCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SIGIRR_chr11_400716_419999	401913	C C	CCCCGACC others(392): Show CCCCGACCCGCTCACCCCCCGACCCGCTCACCCCGGGCCCCGCTCACACC CGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACC CGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTC ACCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCAC ACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGG GCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACC CGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCT CACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	200	0.0050	399	c.39 others(410): Show c.3982_*3983insTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGC GGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGG CGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGG GGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGGTGT GAGCGGGGTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTGAGC GGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTC GGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGG GGTGAGCGGGTCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3802		chr11	TogoVar
SLC24A3_chr20_19207642_19727926	19663441	T T	TCCACTTC others(392): Show TCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCTC CTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0002 a0003c0011t0002	a0003c0011t0002g0051 a0003c0011t0002g0051	1	147	0.0068	399	c.688 others(416): Show c.688-2422_688-2421insCACTTCCTCCTCCACCTCCTCCTCTACC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC ACCTCCTCCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTC CTCCTCCACCTCCACCTCCAC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(392): Show AAATATAAATATATTATATATATTATATATAATATAAATATATTATATAT ATTATATATAAATATAAATATAATATATATTATATATAAATATAAATATA TTATATATTATATAAATATAAATATATTATATATTATATAAATATAAATA TATTATATATTATATATAAATATAAATATATTATATATTATATATAAATA TAAATATATTATATATATTATATATAATATAAATATATTAATATATTATA TATAATATAAATATATTATATATAATATAAATATATTATATATAATATAA ATATATTATATATAATATAAATATATTATATATATTATATATAATATAAA TATATTATATATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0170 a0001c0001t0013g0170	1	132	0.0076	399	c.-70 others(416): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTTATATTA TATATAATATATTTATATTATATATAATATATTAATATATTTATATTATA TATAATATATATAATATATTTATATTTATATATAATATATAATATATTTA TATTTATATATAATATATAATATATTTATATTTATATAATATATAATATA TTTATATTTATATAATATATAATATATTTATATTTATATATAATATATAT TATATTTATATTTATATATAATATATATAATATATTTATATTATATATAA TATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATTATA others(392): Show ATATTATATTTTATATTATAATATATAATATATATTATATTTTATATTAT AATATATAATATAATATACATTATATTTTATGATATATAATATACATTAT ATTTTATGATATATAATATACATTATATTTTATGATATATAATATACATT ATATTTTATGATATATAATATACATTATATTTTATGATATATAATATACA TTATATTTTATGATATATAATATACATTATATTTTATGATATATAATATA CATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATA TACATTATATTTTATGATATATAATACATATTATATTTTATGATATATAA TATATATTATATTTTATGATATATAATATATATTTTATGATATATATTAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	161	0.0062	399	c.17 others(418): Show c.174+9791_*174+9792insATAATATATATCATAAAATATATATT ATATATCATAAAATATAATATATATTATATATCATAAAATATAATATGTA TTATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGTA TATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAATG TATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAA TGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATAT AATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAAT ATAATGTATATTATATTATATATTATAATATAAAATATAATATATATTAT ATATTATAATATAAAATATAATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATTATA others(392): Show ATATTATATTTTATATTATAATATATAATATATATTATATTTTATATTAT AATATATAATATACATTATATTTTATGATATATAATATACATTATATTTT ATGATATATAATATACATTATATTTTATGATATATAATATACATTATATT TTATGATATATAATATACATTATATTTTATGATATATAATATACATTATA TTTTATGATATATAATATACATTATATTTTATGATATATAATATACATTA TATTTTATGATATATAATATATATTATATTTTATGATATATAATATATAT TATATTTTATGATATATAATATATATTATATTTTATGATATATAATATAT ATTATATTTTATGATATATAATATATATTATATTTTATGATATATATTAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0191	1	161	0.0062	399	c.17 others(418): Show c.174+9791_*174+9792insATAATATATATCATAAAATATAATAT ATATTATATATCATAAAATATAATATATATTATATATCATAAAATATAAT ATATATTATATATCATAAAATATAATATATATTATATATCATAAAATATA ATATATATTATATATCATAAAATATAATGTATATTATATATCATAAAATA TAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAA TATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAA AATATAATGTATATTATATATCATAAAATATAATGTATATTATATATCAT AAAATATAATGTATATTATATATTATAATATAAAATATAATATATATTAT ATATTATAATATAAAATATAATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	246072200	A A	ATGTGCTT others(392): Show ATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGA GGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTT CTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCTTCCT GTTAGTTCTGGGGAGGGATTCATGTGCTTTCCACTGTGCTCACTGTGGAT GCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCAC TGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTG TGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTT TCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0098 a0002c0004t0001g0098	1	38	0.0263	399	c.532 others(420): Show c.532-142264_532-142263insCGAATCCCTCCCCAGAACTAACAG GAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAA CTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTC CCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGA ATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAG CACATGAATCCCTCCCCAGAACTAACAGGAAGCAAAGACAGTGAGCACAG TGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTG AGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATC CACAGTGAGCACAGTGGAAAGCACA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325242	G G	GGGGGGGC others(392): Show GGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGA AGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAG GAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGG CGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTC GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGA AGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGG AGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCG GGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0133 a0002c0005t0002g0133	1	133	0.0075	399	c.531 others(416): Show c.531+1958_531+1959insGCGACTCCTTCTCCCTCCTTCCCGCCCC CCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCT CCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCC TTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCC GACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCT CCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1281234	G G	GTGTATTG others(392): Show GTGTATTGTGTGGTGTGTGGTGTGGTGTGTGTATGTGGTATGGTGTGTGT GCTTGTATATTTGGTGTTTATGCTGTATGTGGTGTGTGGAGTGTGTGTAT GTGGTGTGTGGTGTGGTGTGTGTGTTTGTGTGGTGTGTGTGTGTATGTGG CGTGTGTGTGCTTGTGTATTTGGTGTTTATGGTGTATGTGGTGTGGTGTG TGTTTATGTGGTGTATTGTGTGGTGTGTGTGTTTGTGTGGTGTGTGTATA TGTGGTGGTGTGTGTGTGCTTGTGTATTTGGTGTTTATGGTGTATGTGGT GTGTGGTGTGTGTGTTTGTGTGGTGTGGTGTGTGTGTGGTGGTATGTGTG TGCTTGTGTATTTGGTGTTTATGGTGTATATGGTGTGTGGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp2 HG02145.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0101 a0001c0002t0001g0118 a0001c0001t0001g0101 a0001c0002t0001g0118	2	62	0.0323	399	c.128 others(420): Show c.1284+13666_1284+13667insATTGTGTGGTGTGTGGTGTGGTGT GTGTATGTGGTATGGTGTGTGTGCTTGTATATTTGGTGTTTATGCTGTAT GTGGTGTGTGGAGTGTGTGTATGTGGTGTGTGGTGTGGTGTGTGTGTTTG TGTGGTGTGTGTGTGTATGTGGCGTGTGTGTGCTTGTGTATTTGGTGTTT ATGGTGTATGTGGTGTGGTGTGTGTTTATGTGGTGTATTGTGTGGTGTGT GTGTTTGTGTGGTGTGTGTATATGTGGTGGTGTGTGTGTGCTTGTGTATT TGGTGTTTATGGTGTATGTGGTGTGTGGTGTGTGTGTTTGTGTGGTGTGG TGTGTGTGTGGTGGTATGTGTGTGCTTGTGTATTTGGTGTTTATGGTGTA TATGGTGTGTGGTGTGTGTGTTTGT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7449285	T T	TCCTCCCT others(392): Show TCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTTCCGTACTTCCTCTCCCCTCCCTC CCTCTTTTCCTTTCTCTCCCCTCCATCCCGCCCTCCCTCCCTTCCTCTTT TCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0091 a0001c0003t0015g0091	1	137	0.0073	399	c.548 others(418): Show c.548+52941_548+52942insCCCTTCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCGTACTTCCT CTCCCCTCCCTCCCTCTTTTCCTTTCTCTCCCCTCCATCCCGCCCTCCCT CCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTTCCTCCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX11_chr2_5687384_5706385	5706098	G G	GGGAGGCT others(392): Show GGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGA CTGGGGTAGAGGAACAGGGAGACTGGGGTGGAGGAGCTGGGAGGCCAGGG TGGAGGAGTTGAGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAG GAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAG GGAGACTGGGGTAGAGGAACAGGGAGACTGGGGTGGAGGAGCTGGGAGGC CAGGGTGGAGGAGTTGAGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGG TAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGACTGGGGTAGAGG AACAGGGAGACTGGGGTGGAGGAGCTGGGAGGCCAGGGTGGAGGAGTTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0000 a0001c0001t0031g0000	1	422	0.0024	399	c.12 others(412): Show c.12051_*12052insGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGG GTAGAGGAGCAGGGAGACTGGGGTAGAGGAACAGGGAGACTGGGGTGGAG GAGCTGGGAGGCCAGGGTGGAGGAGTTGAGGAGGCTGGGGTAGAGGAGCA GGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGG CTGGGGTAGAGGAGCAGGGAGACTGGGGTAGAGGAACAGGGAGACTGGGG TGGAGGAGCTGGGAGGCCAGGGTGGAGGAGTTGAGGAGGCTGGGGTAGAG GAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAG GGAGACTGGGGTAGAGGAACAGGGAGACTGGGGTGGAGGAGCTGGGAGGC CAGGGTGGAGGAGTTGA	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4714		chr2	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(392): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGG GGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGG GGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGG GAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGGGAGG GGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0192	1	6	0.1667	399	c.138 others(418): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTC CCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTC CCCCCCTCCCCCTCCCCTCCCCCCCCCCTCCCCCTCCCCTCCCCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(392): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAG GGGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAG GGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGG GGAGGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAG GGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0185 a0002c0002t0002g0185	1	6	0.1667	399	c.138 others(418): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCC TCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCTCC CCCCCTCCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGGAG others(392): Show AGGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGATGGGGGGAGGGGAGGGGGAGGGGGGGGAGGGGAGGGGAGGG GGGGAGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGG AGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAGGGGAGGGGA GGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGA GGGGAGGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0071	1	6	0.1667	399	c.138 others(418): Show c.1384-5708_1384-5707insCCTCCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCC TCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCCT CCCCTCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCC CTCCCCCCCTCCCCCTCCCTCCCCCCCTCCCCTCCCCTCCCCCCCCTCCC CCTCCCCTCCCCCCATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCCTTCCCTCCCCTCCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATATTTA others(392): Show TATATTTATATAAAAATATATAAAAATATATATTTATATAAAAATATATA AAAATATATATTTATATAAAAATATATAAAAATATATATTTATATAAAAA TATGTATAAATATATATTTATATAAAAATATGTATAAATATATATTTATA TATAAATATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAAAATATATATAAATATATATTTATA TAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATATA TTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	44	0.0227	399	c.190 others(418): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATATA AATATATATTTATATATATTTTTATATAAATATATATTTATATATATTTT TATATAAATATATATTTATATATATTTTTATATAAATATATATTTATATA TATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATATT TATATATATTTTTATATATTTATATATAAATATATATTTATACATATTTT TATATAAATATATATTTATACATATTTTTATATAAATATATATTTTTATA TATTTTTATATAAATATATATTTTTATATATTTTTATATAAATATATATT TTTATATATTTTTATATAAATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATATTTA others(392): Show TATATTTATATAAAAATATATAAAAATATATATTTATATAAAAATATATA AAAATATATATTTATATAAAAATATATAAAAATATATATTTATATAAAAA TATGTATAAATATATATTTATATAAAAATATGTATAAATATATATTTATA TATAAATATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAACAA TATATATAAATATATATTTATATAAAAATATATATAAATATATATTTATA TAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATATA TTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	44	0.0227	399	c.190 others(418): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATATA AATATATATTTATATATATTTTTATATAAATATATATTTATATATATTTT TATATAAATATATATTTATATATATTGTTATATAAATATATATTTATATA TATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATATT TATATATATTTTTATATATTTATATATAAATATATATTTATACATATTTT TATATAAATATATATTTATACATATTTTTATATAAATATATATTTTTATA TATTTTTATATAAATATATATTTTTATATATTTTTATATAAATATATATT TTTATATATTTTTATATAAATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATATTTA others(392): Show TATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATATAAATATATATAAATATATATTTATA TATAAATATATAAAAATATATATAAATATATATTTATATATAAATATATA TAAATATATATTTATATATATTTTTATATAAATATATATTTATATATAAA TATATATAAATATATATTTATATAAAAATATATATAAATATATATTTATA TAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATATA TTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0073 a0003c0006t0001g0073	1	44	0.0227	399	c.190 others(418): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATATA AATATATATTTATATATATTTTTATATAAATATATATTTATATATATTTT TATATAAATATATATTTATATATATTTATATATAAATATATATTTATATA AAAATATATATAAATATATATTTATATATATTTATATATAAATATATATT TATATATATTTTTATATATTTATATATAAATATATATTTATATATATTTA TATATAAATATATATTTATATATATTTTTATATAAATATATATTTATATA TATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATATT TATATATATTTTTATATAAATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
ST3GAL3_chr1_43702536_43936159	43905561	C C	CCACTCTT others(392): Show CCACTCTTCCCCTGCCACTTTTCCTTCCCCTCTTCCTGTTTCTCTTCCTA CCACTCTTCTTTCTCCTCCTCCTGTTCCTCTTCCTCCCCATCCTCCTGTT TCCTTTCCCGCCACTTTTCTTCACCTCCTCCTGTTCCTCTTCCCACCACT CTTCCCCCTCCTCCTCCTGCTCCTCTCCCACCACTCTCCCCTCTCCTCCT CCTGCTCCCCTTCCCGCCACTCTTCCCCCTCCTCCTTCTGTTCCTCTTCC CGCCACTCTTCCTCCCCCTCCCCCTCCTGCTCCTCTTCCTGCCACTTTTC CTCCCCCTCGTCCTGCTCCTCTTCCCACCACTGTTCCTCCCCCTCCTCCT GTTCCCCTTCCCACCACTCTTCCTCTCCGTCCTCCTGTTCCCCTTCCTGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0077 a0001c0001t0002g0078	2	251	0.0080	399	c.744 others(416): Show c.744+5838_744+5839insCTTCCCCTGCCACTTTTCCTTCCCCTCT TCCTGTTTCTCTTCCTACCACTCTTCTTTCTCCTCCTCCTGTTCCTCTTC CTCCCCATCCTCCTGTTTCCTTTCCCGCCACTTTTCTTCACCTCCTCCTG TTCCTCTTCCCACCACTCTTCCCCCTCCTCCTCCTGCTCCTCTCCCACCA CTCTCCCCTCTCCTCCTCCTGCTCCCCTTCCCGCCACTCTTCCCCCTCCT CCTTCTGTTCCTCTTCCCGCCACTCTTCCTCCCCCTCCCCCTCCTGCTCC TCTTCCTGCCACTTTTCCTCCCCCTCGTCCTGCTCCTCTTCCCACCACTG TTCCTCCCCCTCCTCCTGTTCCCCTTCCCACCACTCTTCCTCTCCGTCCT CCTGTTCCCCTTCCTGTCACT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SWAP70_chr11_9659077_9757993	9706165	T T	TTGGTGAT others(392): Show TTGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGTGTAT ACTTGGTGATCTGTATGCACTGGTGATCTGTATACACTGGTGATCTGTGT ATACTTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTG TATGCACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATC TGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGA TCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGT GATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTG GTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACAC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18982.hp1 NA18972.hp2 NA18982.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0017 a0001c0003t0003g0229 a0001c0003t0003g0017 a0001c0003t0003g0229	2	245	0.0082	399	c.241 others(416): Show c.241-7273_241-7272insATACACTGGTGATCTGTGTATACTTGGT GATCTGTATGCACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTG GTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATGCAC TGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATAC ACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTAT ACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGT ATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCT GTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGAT CTGTATACACTGGTGATCTGT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
TAFA5_chr22_48484553_48756932	48679581	G G	GGGCTCCC others(392): Show GGGCTCCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGC TCCCCGTCCATCCCTCTCCCGTCTCCCCGTCCATCCCTCTCCCGTCTCCC CGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCTGGCTCCCCAGC TCCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCCGGCTCCC CGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTC CATCCCTCTCCGGGCTCGCCGTCCATCCCTCTCCGGGCTCCCCGTCCATC CCTCTCCGGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTC TCCCGGCTCCCCGTCCATCCCTTTCCGGGCTCCCCGTCCATCCCTCTCCC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0081 a0001c0001t0005g0081	1	200	0.0050	399	c.263 others(418): Show c.263-28114_263-28113insCGGCTCCCCGTCCATCCCTCTCCGGG CTCCCCGTCCATCCCTCTCCCGTCTCCCCGTCCATCCCTCTCCCGTCTCC CCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCTGGCTCCCCAG CTCCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCCGGCTCC CCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGT CCATCCCTCTCCGGGCTCGCCGTCCATCCCTCTCCGGGCTCCCCGTCCAT CCCTCTCCGGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCT CTCCCGGCTCCCCGTCCATCCCTTTCCGGGCTCCCCGTCCATCCCTCTCC CGGCTCCCCGTCCATCCCTCTCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1272573	C C	CCACACAT others(392): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCTGTGACCAACCACCATCCACAGCCACCACACATCAGACCC CACGACCGCCATCCACAGTCACATCAGACCCCACAACCGCCATCCACAGT CACCACATCAGACCCCCGGGACCAACCGCCATCCACAGTCACCACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0143 a0001c0005t0001g0143	1	199	0.0050	399	c.228 others(416): Show c.2287-294_2287-293insTGGTGACTGTGGATGGCGGTCGTAGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTG GTCCCGGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGAT GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGGCTGTGGATGG TGGTTGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THSD4_chr15_71110471_71788383	71199918	T T	TGTGTGGT others(392): Show TGTGTGGTGTGTGTGTGTAGTGTGTGTGTAGTGTGTGTGGGTGTGTGTGA TGTGTGTGGTGTGTGTGGTGTGTGGGTGTGTGCTGTGTGTGTGCTGTGTG TGTGCTGTGTGTGTGATGCACGTGTGGGGTGTGTGTGTGTGTGCTGTGTG TGATGCATGTGTGGGGTGTGTGTGTGTGTGGTGCATGTGTGGTATGTGTG TGTGGTGCATGTGTGGGGTGTGTGGTGTGTGTGTGTAGTGTGTGTGTAGT GTGTGTGGGTGTGTGTGATGTGTGTGGTGTGTGTGGTGTGTGGGTGTGTG CTGTGTGTGTGCTGTGTGTGTGCTGTGTGTGTGTGATGCACGTGTGGGGT GTGTGTGTGTGTGGTGCATGTGTGGTATGTGTGTGTGGTGCATGTGTGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0045 a0001c0002t0005g0045	1	115	0.0087	399	c.100 others(418): Show c.100-15112_100-15111insGTGTGTGTGTGTAGTGTGTGTGTAGT GTGTGTGGGTGTGTGTGATGTGTGTGGTGTGTGTGGTGTGTGGGTGTGTG CTGTGTGTGTGCTGTGTGTGTGCTGTGTGTGTGATGCACGTGTGGGGTGT GTGTGTGTGTGCTGTGTGTGATGCATGTGTGGGGTGTGTGTGTGTGTGGT GCATGTGTGGTATGTGTGTGTGGTGCATGTGTGGGGTGTGTGGTGTGTGT GTGTAGTGTGTGTGTAGTGTGTGTGGGTGTGTGTGATGTGTGTGGTGTGT GTGGTGTGTGGGTGTGTGCTGTGTGTGTGCTGTGTGTGTGCTGTGTGTGT GTGATGCACGTGTGGGGTGTGTGTGTGTGTGGTGCATGTGTGGTATGTGT GTGTGGTGCATGTGTGGGGTGTG	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
TM2D3_chr15_101636848_101657381	101654999	G G	GCACCTGG others(392): Show GCACCTGGCACTAGGGCGCAAATGAGAGCGGGGAGCTCTTACAGGCTCAC AGTGACCCCACCTGGCACTAGGGCGCAAATGAGAGCGGGGAGCTCTTACA GGCTCACACTGACCCCACCTGGCACTAGGGTGCAAATGAGAGCGGGGAGC TCTTACAGGCTCACACTGACTCCACCTGGCACTAGGGCGCAAATGAGAGC GGGGAGCTCTTACAGGCTCACACTGACCCCACCTGGCACTAGGGTGCAAA TGAGAGGGGGGAGCTCTTACAGGCTCACAGTGACTCCACCTGGCACTAGG GCGCAGATGAGAGTGGGGAGCTCTTACAGGCTCACACTGACCCCACCTGG CACTAGGGTGCAAATGAGAGGGGGGAGCTCTTACAGGCTCACAGTGACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	419	0.0024	399	c.-26 others(410): Show c.-2639_-2638insGAGTCACTGTGAGCCTGTAAGAGCTCCCCCCTCT CATTTGCACCCTAGTGCCAGGTGGGGTCAGTGTGAGCCTGTAAGAGCTCC CCACTCTCATCTGCGCCCTAGTGCCAGGTGGAGTCACTGTGAGCCTGTAA GAGCTCCCCCCTCTCATTTGCACCCTAGTGCCAGGTGGGGTCAGTGTGAG CCTGTAAGAGCTCCCCGCTCTCATTTGCGCCCTAGTGCCAGGTGGAGTCA GTGTGAGCCTGTAAGAGCTCCCCGCTCTCATTTGCACCCTAGTGCCAGGT GGGGTCAGTGTGAGCCTGTAAGAGCTCCCCGCTCTCATTTGCGCCCTAGT GCCAGGTGGGGTCACTGTGAGCCTGTAAGAGCTCCCCGCTCTCATTTGCG CCCTAGTGCCAGGTG	TM2D3	ENSG00000184277.13	transcript	ENST00000333202.8	protein_coding		2619		chr15	TogoVar
TMC6_chr17_78102397_78133755	78115614	G G	GAGGGGCG others(392): Show GAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGT GGGCACAGGGGCGAAGAGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAG GGAGTGGGCACAGGGGCGAAGAGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGAGAGTGGGCACAGGGG CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGA GTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0006 a0004c0006t0006	a0004c0006t0006g0059 a0004c0006t0006g0059	1	397	0.0025	399	c.227 others(418): Show c.2277+1654_2277+1655insGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCTCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCTCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTG CCCACTCTCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCC CTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCC CTGTGCCCACTCCCTTCGCCCCT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(392): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0019 a0004c0006t0019	a0004c0006t0019g0029 a0004c0006t0019g0029	1	188	0.0053	399	c.227 others(418): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(392): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0019 a0004c0006t0019	a0004c0006t0019g0030 a0004c0006t0019g0030	1	188	0.0053	399	c.227 others(418): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(392): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0126 a0002c0002t0038g0126	1	188	0.0053	399	c.227 others(418): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(392): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0129 a0002c0002t0006g0129	1	188	0.0053	399	c.227 others(418): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(392): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02818.hp2 HG00741.hp2 HG02818.hp2	a0001 a0005 a0001 a0005	a0001c0005 a0005c0004 a0001c0005 a0005c0004	a0001c0005t0082 a0005c0004t0089 a0001c0005t0082 a0005c0004t0089	a0001c0005t0082g0317 a0005c0004t0089g0227 a0001c0005t0082g0317 a0005c0004t0089g0227	2	189	0.0106	399	c.227 others(418): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115639	G G	GGCGAAGG others(392): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0343 a0001c0001t0087g0343	1	403	0.0025	399	c.227 others(418): Show c.2277+1629_2277+1630insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115723	G G	GGCGAAGG others(392): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0002 a0006c0016t0002	a0006c0016t0002g0145 a0006c0016t0002g0145	1	399	0.0025	399	c.227 others(418): Show c.2277+1545_2277+1546insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115723	G G	GGCGAAGG others(392): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0006 a0004c0006t0006	a0004c0006t0006g0051 a0004c0006t0006g0051	1	399	0.0025	399	c.227 others(418): Show c.2277+1545_2277+1546insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115744	G G	GGCGAACG others(392): Show GGCGAACGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAACGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0403 a0003c0003t0001g0403	1	415	0.0024	399	c.227 others(418): Show c.2277+1524_2277+1525insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCGTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCGTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115744	G G	GGCGAAGG others(392): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0123 a0002c0002t0025g0123	1	415	0.0024	399	c.227 others(418): Show c.2277+1524_2277+1525insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115828	G G	GGCGAAGG others(392): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	408	0.0025	399	c.227 others(418): Show c.2277+1440_2277+1441insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115849	G G	GGCGAAGG others(392): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0010 a0004c0012t0010	a0004c0012t0010g0038 a0004c0012t0010g0038	1	402	0.0025	399	c.227 others(418): Show c.2277+1419_2277+1420insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM132B_chr12_125181386_125667369	125612926	T T	TTGTATAA others(392): Show TTGTATAAAAATATATATCATATATATTTATATATTGTATAAAAATATAT ATATCATATATATTTATATATTATATAAAAATATATATATCATATATATT TATATATTATATAAAAATATATATATCATATATATTTATATATTATATAA AAATATATATATCATATATATTTATATATTATATATTATATATTTATATT TTATTTTTATATTTATATTATATATATTTTTTATATTTATATTTATATAT CATATTATATTTATATATTATATAAAAATATCATATATATTTATATATTA TATAAAAATATCATATATATTTATATATTATATAAAAATATATATCATAT ATATTTATATATTATATAAAAATATATATCATATATATTTATATATTATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0042 a0001c0003t0027g0042	1	96	0.0104	399	c.143 others(420): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTTATATATTGTATAAAAATATATATATCATATATATTTATATATTATAT AAAAATATATATATCATATATATTTATATATTATATAAAAATATATATAT CATATATATTTATATATTATATAAAAATATATATATCATATATATTTATA TATTATATATTATATATTTATATTTTATTTTTATATTTATATTATATATA TTTTTTATATTTATATTTATATATCATATTATATTTATATATTATATAAA AATATCATATATATTTATATATTATATAAAAATATCATATATATTTATAT ATTATATAAAAATATATATCATATATATTTATATATTATATAAAAATATA TATCATATATATTTATATATTATAT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM178B_chr7_141069064_141485380	141337156	C C	CACCACCA others(392): Show CACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCATCATCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCACCATCACCACCACGACCACCACCAGCATCACCACCAT CACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCACCAGCATCACCACCATCACCACC ACCACCACCACCATCACCACCAGCATCACCACCATCACCACCACCATCAC CACCACCACCACCACCACCATCACCACCACCACCATCACCACCACGACCA CCACCAGCATCACCACCATCACCACCATCACCACCACCACCACCATCACT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	34	0.0294	399	c.497 others(420): Show c.497-100451_497-100450insCCACCACCACCACCATCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCATCATCACCACCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCAC GACCACCACCAGCATCACCACCATCACCACCACCACCACCACCACCACCA TCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCAGCATCACCACCATCACCACCACCACCACCACCATCACCACCAGCAT CACCACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCA CCACCACCATCACCACCACGACCACCACCAGCATCACCACCATCACCACC ATCACCACCACCACCACCATCACTA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMEM179_chr14_104585864_104609772	104603541	G G	GGCTCACA others(392): Show GGCTCACAGAGGGAGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACA GAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGT GGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGTGGGTGGGT TCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAG GGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGCTCACAGAGGGAGTGGG TGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCA CAGAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGA GTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAGGGGGTGGGTGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG03139.hp2 others(3): Show HG02109.hp1 HG02280.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0014 a0001c0002t0003g0098 a0001c0002t0003g0014 a0001c0002t0003g0098	6	394	0.0152	399	c.305 others(414): Show c.305+895_305+896insTCACCCACCCCCTCTGTGAACCCACCCACC CCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACCCCCTCTGT GAGCCCACCCACCCCCTCTGTGAACCCACCCACCCCCTCTGTGAACCCAC CCACCCCCTCTGTGAACCCACCCACTCCCTCTGTGAGCCCACCCACCCCC TCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACTCCCTCTGTGAA CCCACCCACCCCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCA CCCCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACCCCCTCT GTGAGCCCACCCACCCCCTCTGTGAACCCACCCACTCCCTCTGTGAACCC ACCCACTCCCTCTGTGAGC	TMEM179	ENSG00000258986.7	transcript	ENST00000556573.6	protein_coding	1/3			chr14	TogoVar
TMEM184B_chr22_38214291_38278010	38230159	C C	CCAGCCCA others(392): Show CCAGCCCAGGAAGCTAGAGCGGCTGGATTGCCAAGGCTACTCTAGACCAC AGGGAGGTCAGCCCAGGAAGCTAGAGCGGCTGGATTGCCAAGGCTACTCT AGACCACAGGGAGGCCAGCCCAGGAAGCTAGAGCGGCTGGACTGCCAAGG CTACTCTAGACCACAGGGAAGTCAGCCCAGGAAGCTAGAGCGGCTGGATT GCCAAGGCTACTCTAGACCACAGGGAAGTCAGCCCAGGAAGCTAGAGCGG CTGGACTGCCAAGGCTACTCTAGACCACAGGGAAGTCAGCCCAGGAAGCT AGAGCGGCTGGACTGCCAAGGCTACTCTAGACCACAGGGAAGTCAGCCCA GGAAGCTAGAGCGGCTGGACTGCCAAGGCTACTCTAGACCACAGGGAAGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	348	0.0029	399	c.525 others(414): Show c.525+509_525+510insACTTCCCTGTGGTCTAGAGTAGCCTTGGCA GTCCAGCCGCTCTAGCTTCCTGGGCTGACTTCCCTGTGGTCTAGAGTAGC CTTGGCAGTCCAGCCGCTCTAGCTTCCTGGGCTGACTTCCCTGTGGTCTA GAGTAGCCTTGGCAGTCCAGCCGCTCTAGCTTCCTGGGCTGACTTCCCTG TGGTCTAGAGTAGCCTTGGCAATCCAGCCGCTCTAGCTTCCTGGGCTGAC TTCCCTGTGGTCTAGAGTAGCCTTGGCAGTCCAGCCGCTCTAGCTTCCTG GGCTGGCCTCCCTGTGGTCTAGAGTAGCCTTGGCAATCCAGCCGCTCTAG CTTCCTGGGCTGACCTCCCTGTGGTCTAGAGTAGCCTTGGCAATCCAGCC GCTCTAGCTTCCTGGGCTG	TMEM184B	ENSG00000198792.13	transcript	ENST00000361906.8	protein_coding	5/8			chr22	TogoVar
TNFRSF18_chr1_1198508_1211592	1202419	C C	CCGAGCCC others(392): Show CCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTA CCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAG CCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAG CCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAG TACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCG AGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCC AGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGCCC AGTACCCATCCCCAAGCCCAGTACCCAGCCCCGAGCGCAGTACCCAGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	284	0.0035	399	c.14 others(410): Show c.1424_*1425insAGGCTGGGTACTGCGCTCGGGGCTGGGTACTGGG CTTGGGGATGGGTACTGGGCTCGGGGATGGGTACTGGGCTGGAGGCTGGG TACTGGGCTTGGGGCTGGGTACTGGGCTGGAGACTGGGTACTGGGCTCGG GGATGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTG GGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTG GGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTC GGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTAC TGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGC TGGGTACTGGGCTCG	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1088		chr1	TogoVar
TP53AIP1_chr11_128930370_128947871	128930526	C C	CCGGGGGT others(392): Show CCGGGGGTAGGGAGGCTGGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAG GGGGTTAGGGAGACCAAGAGTCAGGGAGGCCAGGGGTTAGGGAGGCCTAG GGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTGGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTT AGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCTAGGGTTAGGAAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	386	0.0026	399	c.50 others(410): Show c.5064_*5065insACCTTCCTAACCCTAGGCCTCCCTAACCCCTGGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCTAGGCCTCCCTAACCCCTGGCCTCCCTGACTCT TGGTCTCCCTAACCCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCCA GCCTCCCTACCCCCG	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4843		chr11	TogoVar
TPCN2_chr11_69043932_69095597	69077371	C C	CTGCCCTC others(392): Show CTGCCCTCCTGCCATGTCCCTCCACTTGCCCTCCTGCCACGTCCCTCCAC CTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCTTGCCACGT CCCTCCACCTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCC TGCCGTGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTTCACCTGCCCTCC TGCCATGTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCC TGCCACGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACC TGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACC TGCCCTCCTGCTGTGTCCCTTCACCTGCCCTCCTGCCATGTCCCTCCACT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18998.hp2 NA19060.hp1 others(1): Show NA18986.hp1 NA18998.hp2 NA19060.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0022 a0001c0001t0003g0069 a0001c0001t0003g0070	4	11	0.3636	399	c.123 others(418): Show c.1231-1099_1231-1098insATGTCCCTCCACTTGCCCTCCTGCCA CGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCC TCTTGCCACGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCATGTCCCTCC ACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTTC ACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCATGTCCCTCC ACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCAT GTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCGT GTCCCTCCACCTGCCCTCCTGCTGTGTCCCTTCACCTGCCCTCCTGCCAT GTCCCTCCACTTGCCCTCCTGCC	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPO_chr2_1408463_1548673	1531976	C C	CCGCTATG others(392): Show CCGCTATGTGCAACCTCATCAAATTTTCCCACTGTGTGCAACTTCCCTAA GTCGTCCAACTGTTCAACCTGCCCAAATCCCTCCAGCTGTGTGCAACCTC CCCAAATCCCCCCCCACCCTGTGCAACCTCACAAAATTACACCCACTGCA ACCTCCTCAAATCGTTCCCACTTTGTGCAAACTCCTCAAACCCCCCCCCA CAGTGTGCAACCTCCCTAAATCCCCACCACTCTGTGCAACCTCCCCAAAT CCCCCCACACTGTGTGCAACTACGCCAAATCGCGCCACTGTGTGCAACCT CCACAAATCCCGCCCACTCTGTGAAACGTCCCCAAATCCCCCCACTCTGT GCAACCTCCCAAAATCCCCCACACAGTGTGCAACCTCCTCAATTCCCTCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18612.hp2 HG00423.hp1 NA18612.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0100 a0003c0006t0004g0101 a0003c0006t0004g0100 a0003c0006t0004g0101	2	128	0.0156	399	c.261 others(418): Show c.2619-8618_2619-8617insCGCTATGTGCAACCTCATCAAATTTT CCCACTGTGTGCAACTTCCCTAAGTCGTCCAACTGTTCAACCTGCCCAAA TCCCTCCAGCTGTGTGCAACCTCCCCAAATCCCCCCCCACCCTGTGCAAC CTCACAAAATTACACCCACTGCAACCTCCTCAAATCGTTCCCACTTTGTG CAAACTCCTCAAACCCCCCCCCACAGTGTGCAACCTCCCTAAATCCCCAC CACTCTGTGCAACCTCCCCAAATCCCCCCACACTGTGTGCAACTACGCCA AATCGCGCCACTGTGTGCAACCTCCACAAATCCCGCCCACTCTGTGAAAC GTCCCCAAATCCCCCCACTCTGTGCAACCTCCCAAAATCCCCCACACAGT GTGCAACCTCCTCAATTCCCTCT	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TRAF6_chr11_36478769_36515272	36507456	A A	ATACGTAT others(392): Show ATACGTATATATACATGTATTATACATACGTAAATGTATATATACATTAT ACATACGTAAATGTATATATGTATATATACATTATACATACGTAAATGTA TATATGTATATATACATTATACATACGTAAATGTATATATGTATATATAC ATTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAA TGTATATATGTATATATACATTATACATACGTAAATGTATATATGTATAT ATACATTATACATACGTAAATGTATATATGTATATATACATTATACATAC ATAAATGTATTATACATAAATGTATATATGTATATATACATGTATTATAC ATACATAAATGTATATATACATGTATTATACATACATAAATGTATATATG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0251 a0001c0001t0047g0251	1	30	0.0333	399	c.-23 others(416): Show c.-23+2591_-23+2592insCATATATACATTTATGTATGTATAATAC ATGTATATATACATTTATGTATGTATAATACATGTATATATACATATATA CATTTATGTATAATACATTTATGTATGTATAATGTATATATACATATATA CATTTACGTATGTATAATGTATATATACATATATACATTTACGTATGTAT AATGTATATATACATATATACATTTACGTATGTATAATGTATATATACAT TATACATTTACGTATGTATAATGTATATATACATATATACATTTACGTAT GTATAATGTATATATACATATATACATTTACGTATGTATAATGTATATAT ACATATATACATTTACGTATGTATAATGTATATATACATTTACGTATGTA TAATACATGTATATATACGTA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TTLL10_chr1_1168880_1202936	1202419	C C	CCGAGCCC others(392): Show CCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTA CCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAG CCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAG CCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAG TACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCG AGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCC AGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGCCC AGTACCCATCCCCAAGCCCAGTACCCAGCCCCGAGCGCAGTACCCAGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0010 a0010	a0010c0059 a0010c0059	a0010c0059t0001 a0010c0059t0001	a0010c0059t0001g0096 a0010c0059t0001g0096	1	287	0.0035	399	c.45 others(410): Show c.4572_*4573insCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCA GCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCA GTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTC CAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACC CAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCC CAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTC TCCAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTA CCCATCCCCGAGCCCAGTACCCATCCCCAAGCCCAGTACCCAGCCCCGAG CGCAGTACCCAGCCT	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4484		chr1	TogoVar
TTLL10_chr1_1168880_1202936	1202444	C C	CCAGTACC others(392): Show CCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGC CCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGT ACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCA GCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCCCA GTACCCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTC CAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACC CATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0004 a0007c0007t0004	a0007c0007t0004g0042 a0007c0007t0004g0042	1	308	0.0032	399	c.45 others(410): Show c.4597_*4598insCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCC AGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCC AGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCC AGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCT CCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTAC CCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCATCCCCGAGC CCAGTACCCAGTCTCCAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGC CTCCAGCCCAGTACCCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGT ACCCAGCCCCGAGCG	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4509		chr1	TogoVar
UNC5C_chr4_95157504_95553973	95196869	T T	TTATGTAA others(392): Show TTATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATT TATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTA ATATATAATATTTATATATTATATTTATGTAATATATAATATTTATATAT TATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATATA ATATTTATATATATTTATGTAATATATAATATTTATATATATTTATGTAA TATATAATATTTATATATATTTATGTAATATATAATATTTATATATATTT ATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATATA TTTATATATTATATTTATGTAATATATAATATATATTTATATATTATATG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0004 a0004	a0004c0022 a0004c0022	a0004c0022t0015 a0004c0022t0015	a0004c0022t0015g0149 a0004c0022t0015g0149	1	185	0.0054	399	c.213 others(418): Show c.2136+5861_2136+5862insCATATAATATATAAATATATATTATA TATTACATAAATATAATATATAAATATATATTATATATTACATAAATATA ATATATAAATATTATATATTACATAAATATATATAAATATTATATATTAC ATAAATATATATAAATATTATATATTACATAAATATATATAAATATTATA TATTACATAAATATATATAAATATTATATATTACATAAATATAATATATA AATATTATATATTACATAAATATAATATATAAATATTATATATTACATAA ATATAATATATAAATATTATATATTACATAAATATAATATATAAATATTA TATATTACATAAATATAATATATAAATATTATATATTACATAAATATAAT ATATAAATATTATATATTACATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VCX_chrX_7838171_7849143	7844370	A A	AGGGAGGG others(392): Show AGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	150	0.0067	399	c.35 others(408): Show c.354_*355insGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		228		chrX	TogoVar
WDR64_chr1_241647281_241807777	241675038	T T	TCCTGCCT others(392): Show TCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTC CTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTCCCTTCCTCCCTCCCTCCTCCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCT CCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTC	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA19081.hp1 HG00673.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0041 a0001c0001t0010g0181 a0001c0001t0001g0041 a0001c0001t0010g0181	2	156	0.0128	399	c.483 others(414): Show c.483+292_483+293insCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCTCCCTCCCTCCTC CCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTC CCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCC CTCCCTCCTTCCTGCCTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results