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
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(681): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGG GGCGGGGGAATCTGCAGAGATGGGGCGGGGAATCTGCAGAGATGGGGTCG GGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGA CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGA CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCG GGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGG GGAATCTGCAGAGATGGGGGCGGGGGGAATCTGCAGAGATGGGGCGACGG GGGAATCTGCAGAGATGGGGGCGGGGGGAATCTGCAGAGGTGGGGGCGGG GGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0344 a0003c0004t0005g0344	1	304	0.0033	688	c.-22 others(699): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAA TCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGGGGAATCT GCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCT GCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGC AGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGGGTCGGGGGAATCTGCAG AGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGGAATCTGCA GAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGGAATCTGC AGAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAG AGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
KRT82_chr12_52388931_52411335	52409037	C C	CCTCCTCT others(681): Show CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG03139.hp2 HG03654.hp1 HG02818.hp1 HG03139.hp2 HG03654.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0006 a0003c0003 a0007c0006	a0003c0003t0002 a0003c0003t0007 a0007c0006t0002 a0003c0003t0002 a0003c0003t0007 a0007c0006t0002	a0003c0003t0002g0083 a0003c0003t0007g0082 a0007c0006t0002g0025 a0003c0003t0002g0083 a0003c0003t0007g0082 a0007c0006t0002g0025	3	356	0.0084	688	c.-27 others(699): Show c.-2761_-2760insTGAGGGAGAGGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2703		chr12	TogoVar
LAMB1_chr7_107918799_108008161	107976970	C C	CCTCCTTC others(681): Show CCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCTTCCT TCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTT CCTCTCCCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTT CCTCCTTCCTTCCTTTCCTCTCTCTCCTTCCTTCCTTTCCTCTCCCTCCT TCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTC CTTTCCTCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTC CCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCCTCCT TCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTC CTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCTCTCCTTCCTTCCTTTCC TCTCCCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCC TCCTTCCTTCCTTTCCTCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTC CTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCC TCTCCCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCC TCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01255.hp2 HG01261.hp1 others(2): Show HG01070.hp1 HG01255.hp2 HG01261.hp1 HG01952.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0002g0061 others(2): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0002g0061 a0001c0002t0001g0064 a0001c0002t0001g0065	5	357	0.0140	688	c.100 others(707): Show c.1000+1076_1000+1077insAGGAAAGGAAGGAAGGAGGGAGAGGA AAGGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAA GGAAGGAGGGAGAGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGG AGGGAGAGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGAGGA AAGGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAA GGAAGGAGGGAGAGGAAAGGAAGGAAGGAGAGAGAGGAAAGGAAGGAAGG AGGGAGAGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGGGAG AGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGGGAGAGGAAA GGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGG AAGGAGAGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGGGAG AGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGAGAGAGGAAA GGAAGGAAGGAGGAAGAGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGG AAGGAGGGAGAGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAG GGAGAGGAAAGGAAGGAAGGAGAGGAAAGGAAGGAAGGAGGGAGAGGAAA GGAAGGAAGGAG	LAMB1	ENSG00000091136.15	transcript	ENST00000222399.11	protein_coding	9/33			chr7	TogoVar
LGR6_chr1_202188799_202324761	202204775	C C	CACACACA others(681): Show CACACACACACCTCCAAACACACACACACCCCTAACACACACCTCCTCCA AACACACACAAACCTCCAAACACACACACACACCTCCAAACACACACACA CCTAACACACACCTCCTCCAAACACACACACACTTCCAAACACACACACA CCTCCAAACACACATACATCTCCAAACACACACACACCTAACACACGCAC CTAACACACACTTCCTTCAAACACACACACACCTCCAAAGACACACACAC ACCTAACACACACCTCCTTCAAACACACACACCTAACACACACCTCCTTC AAACACACACACACACCTCCAAACACACACACACCTAACACACACCTCCT TCAAACACACACACCTCCAAACACACACACACACCTAACACACACCTCCT TCAAACACACACACACCTCTCCAAACACACACACACACCTAACACACCCC CCTTCAAACACACACACCTCTCCAAAAACACACACACACCTAACACACAC CTCCTTCAAACACACACACACCTCCAAACACAAACACACCTAACACACCC CTCCTTCAAACACACACACCTCAAAACACACACACCTCAAAACACACACA CCTCCAAAAACACACACATACCTAACACACACCTCCTTCAAACACACACA CCTCCAAACACACACACACCTAACACACACCTCTTTCAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02976.hp1 HG03041.hp2 others(2): Show HG02818.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03579.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0024 a0004c0003 a0002c0002 a0003c0024 a0004c0003	a0002c0002t0003 a0003c0024t0004 a0004c0003t0003 a0002c0002t0003 a0003c0024t0004 a0004c0003t0003	a0002c0002t0003g0024 a0002c0002t0003g0093 a0003c0024t0004g0021 others(2): Show a0002c0002t0003g0024 a0002c0002t0003g0093 a0003c0024t0004g0021 a0004c0003t0003g0022 a0004c0003t0003g0023	5	8	0.6250	688	c.212 others(707): Show c.212+10584_212+10585insCTCCAAACACACACACACCCCTAACA CACACCTCCTCCAAACACACACAAACCTCCAAACACACACACACACCTCC AAACACACACACACCTAACACACACCTCCTCCAAACACACACACACTTCC AAACACACACACACCTCCAAACACACATACATCTCCAAACACACACACAC CTAACACACGCACCTAACACACACTTCCTTCAAACACACACACACCTCCA AAGACACACACACACCTAACACACACCTCCTTCAAACACACACACCTAAC ACACACCTCCTTCAAACACACACACACACCTCCAAACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACACCTA ACACACACCTCCTTCAAACACACACACACCTCTCCAAACACACACACACA CCTAACACACCCCCCTTCAAACACACACACCTCTCCAAAAACACACACAC ACCTAACACACACCTCCTTCAAACACACACACACCTCCAAACACAAACAC ACCTAACACACCCCTCCTTCAAACACACACACCTCAAAACACACACACCT CAAAACACACACACCTCCAAAAACACACACATACCTAACACACACCTCCT TCAAACACACACACCTCCAAACACACACACACCTAACACACACCTCTTTC AAACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(681): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTCACATATGTATATAAAACTATAGTCATATATGTATATAAAACT ATATATAGTCATATATGTATATAAAACTATATACAGTCATATATGTATAT AAAACTATATACAGTCATATATGTATATAAAATTATATACAGTCATATAT GTATATAAAACTATATACAGTCATGTATGTATATAAAACTATACAGTCAT ATATGTATATAAAACTATACAGTCATATATGTATATAAAACTATATATAG TCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTAT ATAGTTATATATGTATATAAAACTATATAGTTATATATGTATATAAAACT ATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTAT ATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTT ATGTATGTATGTAAAACTATATACAGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02165.hp2 HG03927.hp2 HG02015.hp1 HG02165.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	172	0.0174	688	c.-30 others(699): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAGTCATA TATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAATTA TATACAGTCATATATGTATATAAAACTATATACAGTCATGTATGTATATA AAACTATACAGTCATATATGTATATAAAACTATACAGTCATATATGTATA TAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATATA TGTATATAAAACTATATAGTTATATATGTATATAAAACTATATAGTTATA TATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATG TAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTA AAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATG TATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(681): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTCACATATGTATATAAAACTATATATAGTTATATGTATATAAAA CTATAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAATTATATACAGTCATATATGTATATAAAACTATATACAGTCAT GTATGTATATAAAACTATACAGTCATATATGTATATAAAACTATACAGTC ATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATAT ATAGTCATATATGTATATAAAACTATATAGTTATATATGTATATAAAACT ATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTAT ATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTT ATGTATGTATGTAAAACTATATACAGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	170	0.0059	688	c.-30 others(699): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGT TATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATACAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATAAA ACTATATACAGTCATGTATGTATATAAAACTATACAGTCATATATGTATA TAAAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATATG TATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTTATA TATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATG TAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTA AAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATG TATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(681): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTCACATATGTATATAAAACTATATATAGTTATATGTATATAAAA CTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAATTATATACAGTCATATATGTATATAAAACTATATACAGTCAT GTATGTATATAAAACTATACAGTCATATATGTATATAAAACTATACAGTC ATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATAT ATAGTCATATATGTATATAAAACTATATAGTTATATATGTATATAAAACT ATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTAT ATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTT ATGTATGTATGTAAAACTATATACAGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG03209.hp1 HG02738.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	171	0.0117	688	c.-30 others(699): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGT TATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATAAA ACTATATACAGTCATGTATGTATATAAAACTATACAGTCATATATGTATA TAAAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATATG TATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTTATA TATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATG TAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTA AAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATG TATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
MBD3L3_chr19_7051207_7063676	7061773	A A	AAATTATA others(681): Show AAATTATATATAATATAATTATATAATATATAATTTATATATAATATAAT TATATAATATATAATTTATATATAATATAATTATATAATATATAATTTAT ATATAATATAATTATATAATATATAATTTATATATAATATAATTATATAA TATATAATTTATATATAATATAATTATATAATATATAATTTATATATAAT ATAATTATATAATATATAATTTATATATAATATAATTATATAATATATAA TTTATATATAATATAATTATATAATATATAATTTATATATAATATAATTA TATAATATATAATTTATATATAATATAATTATATAATATATAATTTATAT ATAATATAATTATATAATATATAATTTATATATAATATAATTATATAATA TATAATTTATATATAATATAATTATATAATATATAATTTATATATAATAT AATTATATAATATATAATTTATATATAATATAATTATATAATATATAATT TATATATTATATAATTATATAATATATAATTTATATATTATATAATTATA TAATATATAATTTATATATAATATAATTATATAATATATAATTTATATAT AATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATATAATATAATTATATAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	688	c.-31 others(699): Show c.-3169_-3168insATATATTATATAATTATATTATATATTATATATA AATTATATATTATATAATTATATTATATATAAATTATATATTATATAATT ATATTATATATAAATTATATATTATATAATTATATTATATATAAATTATA TATTATATAATTATATAATATATAAATTATATATTATATAATTATATAAT ATATAAATTATATATTATATAATTATATTATATATAAATTATATATTATA TAATTATATTATATATAAATTATATATTATATAATTATATTATATATAAA TTATATATTATATAATTATATTATATATAAATTATATATTATATAATTAT ATTATATATAAATTATATATTATATAATTATATTATATATAAATTATATA TTATATAATTATATTATATATAAATTATATATTATATAATTATATTATAT ATAAATTATATATTATATAATTATATTATATATAAATTATATATTATATA ATTATATTATATATAAATTATATATTATATAATTATATTATATATAAATT ATATATTATATAATTATATTATATATAAATTATATATTATATAATTATAT TATATATAAATTATATATTATATAATTATATTATATATAAATTATATATT ATATAATTATATTATATATAAATTATATATTATATAATTATATTATATAT AATT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3098		chr19	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(681): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCC CCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGG GCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTG TGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCTGT GCCTCACATAGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATG GGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGC GAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCC CCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCCGCGCC TCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	32	0.0313	688	c.218 others(703): Show c.2189-97_2189-96insAGGCGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCG CCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCT ATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCG GGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTC GCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCCAGGAGCC CATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGCGGGGGGGGCACACTCGCCAGGAGCCTATGTGAGGCACAGGGGGCA CACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAG GAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGG CACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACT CGCCAGGAGCCCATGTGAGGAGGTGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MMD2_chr7_4900998_4964187	4960054	G G	GTGGGAAG others(681): Show GTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAG TGGGAAGTGGGGGTGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGG GACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGG ACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGAGTGAGGG GGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGG TGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGT GTTGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGG GGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGG GGAGTGGGAAGTGGGGGTGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAGA GAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTG GGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGG GGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGG GGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAGTGA GGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0139 a0001c0002t0002g0139	1	164	0.0061	688	c.-10 others(699): Show c.-1038_-1037insTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAA CCCCCTCACTCCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCCA GGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCCACCCCCAG GTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCCACCCCCAGG TCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAGT CCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCAACACCCCCACTTCCC ACTCCCCCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCA CTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCC CCAACACCCCCACTTCCCACTCCCCCCACCCCCAGGTCCCCCACTCCCTC CAACACCCCCACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTCCCAC TAACCCCCTCACTCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCC CAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCC AAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCAACACCCCCACT TCCCACTCCCTCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTT CCCA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		868		chr7	TogoVar
MMD2_chr7_4900998_4964187	4960054	G G	GTGGGAAG others(681): Show GTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAG TGGGAAGTGGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAG GGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGG GACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGAGTGAGG GGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGG GTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGG TGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTG GGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGG GGAGTGGGAAGTGGGGGTGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAGA GAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTG GGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGG GGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGG GGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAGTGA GGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	164	0.0061	688	c.-10 others(699): Show c.-1038_-1037insTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAA CCCCCTCACTCCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCCA GGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCCACCCCCAG GTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCCACCCCCAGG TCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAGT CCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCAACACCCCCACTTCCC ACTCCCCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCAC TCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCC CAACACCCCCACTTCCCACTCCCCCCACCCCCAGGTCCCCCACTCCCTCC AACACCCCCACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACT AACCCCCTCACTCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCC AGGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCA AGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACACCCCCACT TCCCACTCCCTCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTT CCCA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		868		chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(681): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAG GGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGGGAGGGGGAGGG GAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGGAGGAAGGGAGGGAGGGGAGGGGGAG GGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGG AGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGG GAGGGGGAGGGGGAGGGAGGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0196 a0002c0002t0002g0196	1	8	0.1250	688	c.250 others(703): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCTCCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCC TCCCCCCTCCCCTCCCCCTCCCCCCTACCCTCCCCCTCCCCCCTCCCCTC CCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTT CCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCA CCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTT CCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTC CTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT TCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MSLN_chr16_755734_773862	767629	A A	AGGGGCGT others(681): Show AGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGA GGGGGGTGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCG CGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGT GGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGA GGGGCGCATGGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGG GGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGC ACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGG AGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGG CGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAG GAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGGGGGGCGCGTG GAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGC GTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGG CGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0033 a0005c0005t0001g0033	1	357	0.0028	688	c.159 others(705): Show c.1596+165_1596+166insTGTGGAGGGGGGCGCGTGGGGGGGGCGC ATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGAGGGGCGCATGGGGGG GTGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGT GTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGG GCGCGTGGAGGAGGAGGGGCGCATGGGGGCGCGTGGAGGGGGGCGCGTGG GGGGGTGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGG GTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGG AGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGG CGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAG GGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGA GGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGTGT GGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGC GTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGG GGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGG AGGGGGGGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTAT others(681): Show ATATTTATATATATTTTTATATATATAAAATCATATTTTATATATATTTA TATATATTTTTATATATATAAAATCATATTTTATATATATTTTATATATT ATATATATAAAATCTTATTTTATATATTATATATATATAAAATCTTATTT TATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATAT ATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATA TATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAA AATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATA TTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATC TTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTAATATATATAAAATCTTATTTTATATATATTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCTTATTTTATATATATTTTATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	274	0.0036	688	c.-5+ others(703): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATTAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATAT ATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATA TATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAA AATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATA TAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATA AGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAA ATATATATAAAATAAGATTTTATATATATATAATATATAAAATAAGATTT TATATATATAATATATAAAATATATATAAAATATGATTTTATATATATAA AAATATATATAAATATATATAAAATATGATTTTATATATATAAAAATATA TATAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MUSK_chr9_110663791_110811558	110690472	A A	ATATATAA others(681): Show ATATATAAATATATATATTTCAATATAAGTATATATAAATATATATATTT CAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTAT GTATATAAATATATATATTTCAATATAAGTATATAAAAATATATATATTT CAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGTATAA AAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAAT ATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAATAT ATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATAT TTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATATAT AAAAATATATATATTTAAATATAAGTATATATAAAAATATATATATTTAA ATATAAGTATATATAAAAATATATATATTTAAATATAAG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	324	0.0031	688	c.358 others(705): Show c.358+3210_358+3211insAATATATATATTTCAATATAAGTATATA TAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAATA TAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATATA TATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTA TGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATATA TTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTATATA AAAATATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAA TATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAA TATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATA AGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATATATATA TTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATATA TAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATATTTC AATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAAA AATATATATATTTAAATATAAGTATATATAAAAATATATATATTTAAATA TAAGTATATA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(681): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCCTCTCCTCTCCTCTCCTCCCCCCCTCCCCCCCTCCCCTTCCCCTCCC CTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCC CCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTT CCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCC CTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0030 a0001c0001t0024g0030	1	30	0.0333	688	c.433 others(705): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAG GGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGGGAGGGGGGGAGGAGAGGA GAGGAGAGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OPCML_chr11_132409981_133537501	133082572	T T	TCCTCCTC others(681): Show TCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCC TCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCC TCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCA TCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCC TCTCCTCCCCCTCGCACATCCCCCTTCCCCTCCTCCCCTCCTCATTCTCT CCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCT CCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCC CCTCGCACATCCCCCTTCCCCTCCTCCCCTCCTCATTCTCTCCTCCCCCT CGCCCATCCCCCTTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCC CTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTT CCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCC CTCCTCCCCTCCCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCC TCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCG TCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01516.hp1 HG02145.hp1 HG00642.hp1 HG01516.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0003 a0001c0001t0003g0024 a0001c0001t0005g0023 a0001c0001t0002g0003 a0001c0001t0003g0024 a0001c0001t0005g0023	3	33	0.0909	688	c.62- others(707): Show c.62-139563_62-139562insGGAGGAGGGGAAGGGGGATGGGCGAG GGGGAGGAGAGGACGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGG GAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAG GGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGG AGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGG GGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGA AGGGGGATGGGCGAGGGGGAGGAGAGAATGAGGAGGGGAGGAGGGGAAGG GGGATGTGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGG ATGGGCGAGGGGGAGGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGGATG GGCGAGGGGGAGGAGAGAATGAGGAGGGGAGGAGGGGAAGGGGGATGTGC GAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAG GGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGG GAGGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGGGAG GAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAG AGGATGAGGAGG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133082572	T T	TCCTCCTC others(681): Show TCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCC TCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCC TCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCA TCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCC TCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCT CCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCT CCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCC CCTCGCACATCCCCCTTCCCCTCCTCCCCTCCTCATTCTCTCCTCCCCCT CGCCCATCCCCCTTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCC CTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTT CCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCC CTCCTCCCCTCCCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCC TCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCG TCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	31	0.0323	688	c.62- others(707): Show c.62-139563_62-139562insGGAGGAGGGGAAGGGGGATGGGCGAG GGGGAGGAGAGGACGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGG GAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAG GGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGG AGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGG GGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGA AGGGGGATGGGCGAGGGGGAGGAGAGAATGAGGAGGGGAGGAGGGGAAGG GGGATGTGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGG ATGGGCGAGGGGGAGGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGGATG GGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGC GAGGGGGAGGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAG GGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGG GAGGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGGGAG GAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAG AGGATGAGGAGG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
PAX1_chr20_21700664_21723481	21721553	T T	TATGTATT others(681): Show TATGTATTGTATAAATTATAGTATAATGTATGTAATATGTATAGTATTAT ATATTACATATATGATTACATATATAACATATGTATTACATATTATGTAT TACATATTAAATTGTATAATATAGTATACATTATATTATTATACATATTA TACATATATGTATACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	398	0.0025	688	c.69 others(699): Show c.6991_*6992insATGTATTGTATAAATTATAGTATAATGTATGTAA TATGTATAGTATTATATATTACATATATGATTACATATATAACATATGTA TTACATATTATGTATTACATATTAAATTGTATAATATAGTATACATTATA TTATTATACATATTATACATATATGTATACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTA	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3073		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(681): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATGTATTACATATATGTAATACA TATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02040.hp1 HG02015.hp2 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	123	0.0163	688	c.70 others(699): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATGTATTA CATATATGTAATACATATATAACATGTATTACATATATGTAATACATATA TAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721656	A A	ATATATGT others(681): Show ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACACATATAACATATATTACGTATATGTAATACACATATAACAT ATATTACGTATATGTAATACACATATAACATATATTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	278	0.0036	688	c.70 others(699): Show c.7094_*7095insTATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACACATATAACATATATTACGTATATGTA ATACACATATAACATATATTACGTATATGTAATACACATATAACATATAT TACG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3176		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(681): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	182	0.0055	688	c.-26 others(699): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGA TAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATC TATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(681): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	182	0.0055	688	c.-26 others(699): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGA TAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATC TATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(681): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	688	c.-26 others(699): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGATA CATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGA TAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATC TATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PERM1_chr1_970198_987093	976708	A A	ACCCCCAC others(681): Show ACCCCCACCAACCCCAGGAACCGCCTCCCACTCCCCCCACAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCC ACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCG GGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0179 a0001c0001t0014g0179	1	399	0.0025	688	c.215 others(703): Show c.2150-85_2150-84insGAGTGGGAGGCGGTTCCCGGGGTTGCGGGG GGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCC GGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGCGGGGGCA GGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGTTGGT GGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGG TTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGG GGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCC GGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGG GAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTT GCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTCGGGGGAGTGGGAGGC GGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGG GGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCC CGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTG GGAGGCGGTTCCCGGGGTTGTGGGGGGAGTGGGAGGCGGTTCCTGGGGTT GGTGGGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	976715	C C	CCAACCCC others(681): Show CCAACCCCAGGAACCGCCTCCCACTCCCCCCACAACCCCGGGAACCGCCT CCCACTCCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCG CCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	286	0.0035	688	c.215 others(703): Show c.2150-92_2150-91insCGGGGGGAGTGGGAGGCGGTTCCCGGGGTT GCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCG GTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGGGGGG AGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGG GGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGG GAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTT GCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCG GTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGG GGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCC GGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTCGGGGGAGTG GGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTT GCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGC GGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGG GGGAGTGGGAGGCGGTTCCCGGGGTTGTGGGGGGAGTGGGAGGCGGTTCC TGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(681): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCT CCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTGCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCTCCCTCCCTCC CTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	140	0.0071	688	c.309 others(707): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGC CTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCT CCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLEKHN1_chr1_961482_980865	976708	A A	ACCCCCAC others(681): Show ACCCCCACCAACCCCAGGAACCGCCTCCCACTCCCCCCACAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCC ACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCG GGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	688	c.21 others(699): Show c.2133_*2134insCCCCCACCAACCCCAGGAACCGCCTCCCACTCCC CCCACAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTC CCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		844		chr1	TogoVar
POU6F2_chr7_38972909_39473601	39040063	T T	TTATATAT others(681): Show TTATATATATATATATGTATATAATATATATATGTATTATGTGTGTGTGT GTATATATATGTGTGTATATATATATGTATATATATACACATATATATAC ATATATATATACACACATATATATACACACATATATATACACACATATAT ATACACACACACACACATAATATATATGTATTATATATATGTATATAATA TATATATATATATTATCAGCAGCTGTATTGACAAGATTTTCATTACTTCC TAAATGTCTGCACTGGCTTGCTTTATTTTTCCTTTTAAAGTTTATATATA TATAAATGTATATAATATATATACATATATATAATACATATATATGTATA TAATATATATATGTATTATGTGTGTGTGTGTATATATATGTGTATATATA TATGTATATATATATACACATATATATACACACATATATATACACACACA CACATAATACATATATATATTATATACATATATATGTATTATATATATGT ATATATATTATATACATATATATGTATTATATATATGTATATATATTATA TACATATATATGTATTATATATATGTATATATATTATATACATATATATG TATTATATATATGTATATATATTATATACATATATATGTATTATATATAT GTATATATATTATATACATATATATGTATTATATATATG	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18964.hp2 HG00735.hp1 NA18964.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0003 a0001c0001t0002 a0002c0004t0003	a0001c0001t0002g0131 a0002c0004t0003g0133 a0001c0001t0002g0131 a0002c0004t0003g0133	2	37	0.0541	688	c.106 others(707): Show c.106-45788_106-45787insATATATGTATATAATATATATATGTA TTATGTGTGTGTGTGTATATATATGTGTGTATATATATATGTATATATAT ACACATATATATACATATATATATACACACATATATATACACACATATAT ATACACACATATATATACACACACACACACATAATATATATGTATTATAT ATATGTATATAATATATATATATATATTATCAGCAGCTGTATTGACAAGA TTTTCATTACTTCCTAAATGTCTGCACTGGCTTGCTTTATTTTTCCTTTT AAAGTTTATATATATATAAATGTATATAATATATATACATATATATAATA CATATATATGTATATAATATATATATGTATTATGTGTGTGTGTGTATATA TATGTGTATATATATATGTATATATATATACACATATATATACACACATA TATATACACACACACACATAATACATATATATATTATATACATATATATG TATTATATATATGTATATATATTATATACATATATATGTATTATATATAT GTATATATATTATATACATATATATGTATTATATATATGTATATATATTA TATACATATATATGTATTATATATATGTATATATATTATATACATATATA TGTATTATATATATGTATATATATTATATACATATATATGTATTATATAT ATGTATATATAT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
RAB11FIP3_chr16_420649_528011	492445	C C	CCCAGGGC others(681): Show CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGGAGACCCG AGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCG CCCAGAGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGG GAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG GAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	260	0.0038	688	c.126 others(707): Show c.1265+3455_1265+3456insCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCC CCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCG CCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGG AGACCCGAGGCCGCCCAGAGCCCTCCCCGGGGAGACCCGAGGCCGCCCAG AGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACC CGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCC GTCCAGGGCCCT	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ROBO2_chr3_77035099_77654964	77323064	T T	TATATTAT others(681): Show TATATTATGGATAATATAATATATTATATTATATTATGGATAATATAATA TATTATATTATATTATGGATAATATAATATATTATATTATATTATGGATA ATATAATATATTATATTATATTATGGATAATATAATATATTATATTATAT TATGGATAATATAATATATTATATTATATTATGGATAATATAATATATTA TATTATATTATGGATAATATATTATATTATATTATGGATAATATATTATA TTATATTATGGATAATATATTATATTATATTATGGATAATATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATATTATATTAT GGATAATATATTATATTATGGATAATATATTATATTATGGATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAATATATTATATCATATTA TGGATAATATAATATATTATATCATATTATGGATAATATAATATAATATA TCATATTATGGATAATATAATATAATATATCATATTATGGATAATATAAT ATAATATATCATATTATGGATAATATAATATAATATATC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0156 a0001c0001t0031g0156	1	130	0.0077	688	c.389 others(709): Show c.389-154324_389-154323insATTATATTATGGATAATATAATAT ATTATATTATATTATGGATAATATAATATATTATATTATATTATGGATAA TATAATATATTATATTATATTATGGATAATATAATATATTATATTATATT ATGGATAATATAATATATTATATTATATTATGGATAATATAATATATTAT ATTATATTATGGATAATATATTATATTATATTATGGATAATATATTATAT TATATTATGGATAATATATTATATTATATTATGGATAATATAATATATTA TATTATGGATAATATAATATATTATATTATGGATAATATATTATATTATG GATAATATATTATATTATGGATAATATATTATATTATGGATAATATATTA TATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATATTATATCATATTAT GGATAATATAATATATTATATCATATTATGGATAATATAATATAATATAT CATATTATGGATAATATAATATAATATATCATATTATGGATAATATAATA TAATATATCATATTATGGATAATATAATATAATATATCATATTATGGATA ATATAATATATTAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPH3AL_chr17_207389_357807	218333	T T	TTGGGGCA others(681): Show TTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACT GGAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATG GAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCT CCAAGGCATTTCATTCCCATCTGGGGCAGTTATTACAGAGCCCTTCTTCT GTGCTAAAATTGGCCTCACTGAAATCAGGACCCCCAAGGCATTTCGTTCC CATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGG CCTCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCTGTTTGGGGCAGT TATTATGGAGCCCGTTCTTCTTCTGCACTAAAATTGGCCTCACTGGAATC AGGACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCC TTTCTTCTTCTGCACTAAAATTGGCCTGGCTGAAATCAGGACCCCCAAGG CATTTCATTCCTGTTTGGGGCAGTTATTATGGAGCCCGTTCTTCTTCTGC ACTAAAATTGGCCTGGCTGAAATCAGGACCCCCAAGGCATTTCATTCCTG TTTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCC TCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCCATC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01515.hp2 HG01884.hp1 others(17): Show HG01243.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp2 HG02071.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG03017.hp1 HG03017.hp2 HG03453.hp1 HG03516.hp2 HG03831.hp2 HG04184.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19005.hp2 NA19074.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0011 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0003t0001 a0001c0004t0001 a0001c0004t0026 a0001c0006t0004 a0002c0011t0001 a0004c0013t0003	a0001c0001t0001g0043 a0001c0001t0001g0091 a0001c0001t0001g0124 others(17): Show a0001c0001t0001g0043 a0001c0001t0001g0091 a0001c0001t0001g0124 a0001c0001t0002g0029 a0001c0001t0002g0069 a0001c0001t0003g0083 a0001c0001t0006g0105 a0001c0001t0012g0006 a0001c0001t0017g0099 a0001c0002t0001g0123 a0001c0002t0003g0033 a0001c0002t0006g0060 a0001c0002t0007g0112 a0001c0003t0001g0068 a0001c0003t0001g0075 a0001c0004t0001g0050 a0001c0004t0026g0013 a0001c0006t0004g0022 a0002c0011t0001g0016 a0004c0013t0003g0036	20	80	0.2500	688	c.727 others(705): Show c.727+1289_727+1290insGATGGGAATGAAATGCCTTGGGGGTCCT GATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATA ACTGCCCCAAACAGGAATGAAATGCCTTGGGGGTCCTGATTTCAGCCAGG CCAATTTTAGTGCAGAAGAAGAACGGGCTCCATAATAACTGCCCCAAACA GGAATGAAATGCCTTGGGGGTCCTGATTTCAGCCAGGCCAATTTTAGTGC AGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCC TTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGTGCAGAAGAAGAACGG GCTCCATAATAACTGCCCCAAACAGGAATGAAATGCCTTGGGGGTCCTGA TTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAAC TGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTTCAGTGAGGCC AATTTTAGCACAGAAGAAGGGCTCTGTAATAACTGCCCCAGATGGGAATG AAATGCCTTGGAGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAGA AGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGGG GTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAAT AACTGCCCCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(681): Show CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCAC TCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC CCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCC TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCA CAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGG GGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGATGCCCCA CACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTG ACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGC CCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATG CCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACC CTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCC CTCCACTCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCC ACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	122	0.0082	688	c.727 others(701): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG AGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG GGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGG TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA CCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTG GAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCA GAGGGTGTGGGGCATCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTG GGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCC CGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTG GGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGG GTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGC ATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGG CTGTGGAGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGT GGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RTN1_chr14_59590983_59875776	59750553	A A	ATATATCT others(681): Show ATATATCTATAATATATATATCTATAATATATAATATATCTATAATATAT ATATCTATAATATATAATATATCTATAATATATATATCTATAATATATAA TATATCTATAATATATATATCTATAATATATAATATATCTATAATATATA TATCTATAATATATAATATATCTATAATATATATATTATATCTATAATAT ATAATATATCTATAATATATATAATATATCTATAATATATATATTATATC TATAATATATAATATATCTATAATATATATATTATATCTATAATATATAA TATATCTATAATATATAATATATCTATAATATATATATTATAGATATAAT ATATAATATATCTATAATATATATATTATATATAATATATAATATATTAT ATATAATATATAATATATTATATATATAATATATAATATATTATATCTAT AATATATTATATGTAATATATATATGTTATATCTATAATATATATTATAT CTATAATATATAATATATTATATCTATAAATATAATATATTATATCTATA ATATATTATATATTATATCTATAATATATAATATATTATATCTATAAATA TAATATATTATATCTATAATATATAATATATTATAATATATATATTATAT CTATAATATATATATTATATCTATAAATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0081 a0003c0004t0001g0081	1	105	0.0095	688	c.242 others(705): Show c.242-4073_242-4072insATATATATTATATTTATAGATATAATAT ATATATTATAGATATAATATATATATTATAATATATTATATATTATAGAT ATAATATATTATATTTATAGATATAATATATTATATATTATAGATATAAT ATATAATATATTATAGATATAATATATTATATTTATAGATATAATATATT ATATATTATAGATATAATATATATTATAGATATAACATATATATATTACA TATAATATATTATAGATATAATATATTATATATTATATATATAATATATT ATATATTATATATAATATATTATATATTATATATAATATATATATTATAG ATATATTATATATTATATCTATAATATATATATTATAGATATATTATATA TTATAGATATATTATATATTATAGATATAATATATATATTATAGATATAT TATATATTATAGATATAATATATATATTATAGATATATTATATATATTAT AGATATATTATATATTATAGATATAATATATATATTATAGATATATTATA TATTATAGATATATATATTATAGATATATTATATATTATAGATATATATA TTATAGATATATTATATATTATAGATATATATATTATAGATATATTATAT ATTATAGATATATATATTATAGATATATTATATATTATAGATATATATAT TATAGATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(681): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAG GACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGG AGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCT AAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGA GGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAG GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGA GGAGGCACAGGAGGAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAAGCAC AGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	149	0.0067	688	c.-12 others(707): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTATTCCTCCTCCTCC TCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTC CTCTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCTGGCATCTGGGACGTC CCCACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCCTCCTCCTCTTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCC TCCTCTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCTGGCATCTGGGACG TCCCCACAGTGTCCTAGCACCTGTTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(681): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCC CTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCC CTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0042 a0002c0002t0042	a0002c0002t0042g0032 a0002c0002t0042g0032	1	117	0.0085	688	c.77- others(705): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCC CCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCT CCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(681): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCC CTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCC CTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0123 a0002c0002t0014g0123	1	117	0.0085	688	c.77- others(705): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTTCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCC CCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCT CCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(681): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCC CTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCC CTCCCCCCTGCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCC CTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	117	0.0085	688	c.77- others(705): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTTCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTGCCCTCCCCATCCCCTCCCCTCCC CCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCT CCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(681): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCC TCCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0030	1	117	0.0085	688	c.77- others(705): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCC CTCCCCTCCCCATCCCCTCCCCCTCCCCATCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCT CCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(681): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCAC CCCTTCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCATCCC CTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0011	1	117	0.0085	688	c.77- others(705): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCC TTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCT CCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(681): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCTACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCC CTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCC CTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0124 a0003c0003t0002g0124	1	117	0.0085	688	c.77- others(705): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCTACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTTCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCC CCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCT CCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(681): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCC CTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCC CTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0118 a0002c0002t0026g0118	1	121	0.0083	688	c.22+ others(705): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCC CCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCT CCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(681): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCC CTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCC CTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0013 a0002c0002t0008g0013	1	121	0.0083	688	c.22+ others(705): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTTCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCC CCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCT CCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(681): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCC CTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCC CTCCCCCCTGCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCC CTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	121	0.0083	688	c.22+ others(705): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTTCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTGCCCTCCCCATCCCCTCCCCTCCC CCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCT CCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(681): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCC TCCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	121	0.0083	688	c.22+ others(705): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCC CTCCCCTCCCCATCCCCTCCCCCTCCCCATCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCT CCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(681): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCAC CCCTTCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCATCCC CTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0092 a0001c0001t0005g0092	1	121	0.0083	688	c.22+ others(705): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCC TTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCT CCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(681): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCTACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCC CTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCC CTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0015 a0003c0003t0002g0015	1	121	0.0083	688	c.22+ others(705): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCTACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTTCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCC CCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCT CCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC2A5_chr1_9030106_9074635	9061385	T T	TTCCCTTT others(681): Show TTCCCTTTGCCATTCTAAATTGTGTCTGAATTTGGTACCTTAAATTGCAT GACATATTCTTTTATAATGTTTACCAAAATATTGGTCAGACTTAGTCATG TATAATGGGTAATGAATAGTATTTTGTAGTTTTTATTTCAGACAGAGCAG GCATAGATGTCTTGTCAGAAAGTTTCTAGAACATCCTCAGTTGTATTCCT TTCTCCCTTTGGCATTTAATGTTAATCTCTTAGCAAAGACATATTAGAGT TTGGTTTTATTACCAGTTTTTGCATTATCACATAATCTGAGATGAGTGAC CTGCTTGAGGAGCATTCGATCAAGCAGCTTTCTTTCATGGCTGTGTCCTA GGCTGCACTCTGTGCCTTTGTACTATAACTAAGGTGATTTTTTTCTTGGG CTTCTGGCCTAGAAAAATATATTATGCTTTTTATTCTTGCTGACTGTGGT TTTCTTAAGTACCTCACTTAATTCTCTCAGCCTATAAATTTCCACTTATG AAATCTGCTAATAAATGTCCTTTTTTTTTTTTTTAATCTTTTTTAGAATC CTCACAAATTCTTTCCTGATGAACGTTTTGGGGATGAAAGTCCACTCTTG ACAATGAGACAGCCTGGGAGATGTCGCGTAAACAGTACACCTCCTGCAGA AACCATGTTTACAGATCTGGACTCTTTTGTGGCCTTCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(121): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp2 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0004 a0001c0001 a0001c0006 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0036 a0001c0001t0043 a0001c0001t0044 a0001c0006t0002 a0003c0004t0021	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0021 others(111): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0002g0006 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0153 a0001c0001t0002g0254 a0001c0001t0002g0267 a0001c0001t0003g0103 a0001c0001t0003g0293 a0001c0001t0004g0244 a0001c0001t0004g0250 a0001c0001t0004g0256 a0001c0001t0004g0283 a0001c0001t0006g0112 a0001c0001t0006g0163 a0001c0001t0006g0245 a0001c0001t0006g0255 a0001c0001t0006g0257 a0001c0001t0006g0259 a0001c0001t0006g0268 a0001c0001t0006g0289 a0001c0001t0006g0295 a0001c0001t0007g0083 a0001c0001t0007g0261 a0001c0001t0008g0260 a0001c0001t0011g0079 a0001c0001t0011g0084 a0001c0001t0011g0085 a0001c0001t0011g0104 a0001c0001t0016g0050 a0001c0001t0016g0051 a0001c0001t0016g0052 a0001c0001t0017g0058 a0001c0001t0017g0243 a0001c0001t0018g0292 a0001c0001t0019g0279 a0001c0001t0020g0264 a0001c0001t0020g0266 a0001c0001t0028g0253 a0001c0001t0029g0290 a0001c0001t0030g0215 a0001c0001t0031g0272 a0001c0001t0036g0076 a0001c0001t0043g0102 a0001c0001t0044g0248 a0001c0006t0002g0106 a0003c0004t0021g0057 a0003c0004t0021g0080	124	322	0.3851	688	c.34- others(703): Show c.34-3136_34-3135insTGGAAGGCCACAAAAGAGTCCAGATCTGTA AACATGGTTTCTGCAGGAGGTGTACTGTTTACGCGACATCTCCCAGGCTG TCTCATTGTCAAGAGTGGACTTTCATCCCCAAAACGTTCATCAGGAAAGA ATTTGTGAGGATTCTAAAAAAGATTAAAAAAAAAAAAAAGGACATTTATT AGCAGATTTCATAAGTGGAAATTTATAGGCTGAGAGAATTAAGTGAGGTA CTTAAGAAAACCACAGTCAGCAAGAATAAAAAGCATAATATATTTTTCTA GGCCAGAAGCCCAAGAAAAAAATCACCTTAGTTATAGTACAAAGGCACAG AGTGCAGCCTAGGACACAGCCATGAAAGAAAGCTGCTTGATCGAATGCTC CTCAAGCAGGTCACTCATCTCAGATTATGTGATAATGCAAAAACTGGTAA TAAAACCAAACTCTAATATGTCTTTGCTAAGAGATTAACATTAAATGCCA AAGGGAGAAAGGAATACAACTGAGGATGTTCTAGAAACTTTCTGACAAGA CATCTATGCCTGCTCTGTCTGAAATAAAAACTACAAAATACTATTCATTA CCCATTATACATGACTAAGTCTGACCAATATTTTGGTAAACATTATAAAA GAATATGTCATGCAATTTAAGGTACCAAATTCAGACACAATTTAGAATGG CAAAGGGA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	1/11			chr1	TogoVar
SLC2A5_chr1_9030106_9074635	9061385	T T	TTCCCTTT others(681): Show TTCCCTTTGCCATTCTAAATTGTGTCTGAATTTGGTACCTTAAATTGCAT GACATATTCTTTTATAATGTTTACCAAAATATTGGTCAGACTTAGTCATG TATAATGGGTAATGAATAGTATTTTGTAGTTTTTATTTCAGACAGAGTAG GCATAGATGTCTTGTCAGAAAGTTTCTAGAACATCCTCAGTTGTATTCCT TTCTCCCTTTGGCATTTAATGTTAATCTCTTAGCAAAGACATATTAGAGT TTGGTTTTATTACCAGTTTTTGCATTATCACATAATCTGAGATGAGTGAC CTGCTTGAGGAGCATTCGATCAAGCAGCTTTCTTTCATGGCTGTGTCCTA GGCTGCACTCTGTGCCTTTGTACTATAACTAAGGTGATTTTTTTCTTGGG CTTCTGGCCTAGAAAAATATATTATGCTTTTTATTCTTGCTGACTGTGGT TTTCTTAAGTACCTCACTTAATTCTCTCAGCCTATAAATTTCCACTTATG AAATCTGCTAATAAATGTCCTTTTTTTTTTTTTTAATCTTTTTTAGAATC CTCACAAATTCTTTCCTGATGAACGTTTTGGGGATGAAAGTCCACTCTTG ACAATGAGACAGCCTGGGAGATGTCGCGTAAACAGTACACCTCCTGCAGA AACCATGTTTACAGATCTGGACTCTTTTGTGGCCTTCCA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0023 a0001c0001t0024g0023	1	199	0.0050	688	c.34- others(703): Show c.34-3136_34-3135insTGGAAGGCCACAAAAGAGTCCAGATCTGTA AACATGGTTTCTGCAGGAGGTGTACTGTTTACGCGACATCTCCCAGGCTG TCTCATTGTCAAGAGTGGACTTTCATCCCCAAAACGTTCATCAGGAAAGA ATTTGTGAGGATTCTAAAAAAGATTAAAAAAAAAAAAAAGGACATTTATT AGCAGATTTCATAAGTGGAAATTTATAGGCTGAGAGAATTAAGTGAGGTA CTTAAGAAAACCACAGTCAGCAAGAATAAAAAGCATAATATATTTTTCTA GGCCAGAAGCCCAAGAAAAAAATCACCTTAGTTATAGTACAAAGGCACAG AGTGCAGCCTAGGACACAGCCATGAAAGAAAGCTGCTTGATCGAATGCTC CTCAAGCAGGTCACTCATCTCAGATTATGTGATAATGCAAAAACTGGTAA TAAAACCAAACTCTAATATGTCTTTGCTAAGAGATTAACATTAAATGCCA AAGGGAGAAAGGAATACAACTGAGGATGTTCTAGAAACTTTCTGACAAGA CATCTATGCCTACTCTGTCTGAAATAAAAACTACAAAATACTATTCATTA CCCATTATACATGACTAAGTCTGACCAATATTTTGGTAAACATTATAAAA GAATATGTCATGCAATTTAAGGTACCAAATTCAGACACAATTTAGAATGG CAAAGGGA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	1/11			chr1	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(681): Show TTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATAA AATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0165 a0001c0011t0001g0165	1	241	0.0041	688	c.12+ others(703): Show c.12+4102_12+4103insGTTTATATAATATATAAAATATATTATAGT TTATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATAT TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAC ACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATA ATATATACACATATATTATAGTTTATATAATATATACACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAAC ATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATA TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar

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