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
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(371): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGAGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	188	0.0053	378	c.227 others(397): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(371): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0230 a0004c0010t0001g0230	1	188	0.0053	378	c.227 others(397): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115660	G G	GGCGAAGG others(371): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGAGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0130 a0002c0002t0002g0130	1	403	0.0025	378	c.227 others(397): Show c.2277+1608_2277+1609insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTC GC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115807	G G	GGCGAAGG others(371): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0078	1	413	0.0024	378	c.227 others(397): Show c.2277+1461_2277+1462insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM120B_chr12_121707752_121787068	121747451	G G	GCTGGGGT others(371): Show GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0018 a0001c0001t0055g0018	1	291	0.0034	378	c.189 others(393): Show c.189-862_189-861insTGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM163_chr2_134450759_134724000	134609513	G G	GACAGACC others(371): Show GACAGACCCCGAGAACTGTACTGGTGAAAAGGATGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACA GACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTG GTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACC CCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGA AAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAA CTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAG GACAGACCCCGAGAACTGTGCTGGTGAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	218	0.0046	378	c.323 others(397): Show c.323-57423_323-57422insTTTCACCAGCACAGTTCTCGGGGTCT GTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA CAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCT CGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTT CACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGG GTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGC ACAGTTCTCGGGGTCTGTCATCCTTTTCACCAGTACAGTTCTCGGGGTCT GT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM179_chr14_104585864_104609772	104603541	G G	GGCTCACA others(371): Show GGCTCACAGAGGGAGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACA GAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGT GGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGTGGGTGGGT TCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAG GGGGTGGGTGGGTTCACAGAGGGGGTGGGTGGGCTCACAGAGGGAGTGGG TGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCA CAGAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGG GTGGGTGGGTTCACAGAGGGGGTGGGTGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0091 a0001c0002t0003g0091	1	389	0.0026	378	c.305 others(393): Show c.305+895_305+896insTCACCCACCCCCTCTGTGAACCCACCCACC CCCTCTGTGAACCCACCCACCCCCTCTGTGAGCCCACCCACCCCCTCTGT GAACCCACCCACCCCCTCTGTGAACCCACCCACCCCCTCTGTGAACCCAC CCACTCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCCACCCACCCCC TCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACCCCCTCTGTGAA CCCACCCACTCCCTCTGTGAACCCACCCACCCCCTCTGTGAACCCACCCA CTCCCTCTGTGAACCCACCCACCCCCTCTGTGAGCCCACCCACCCCCTCT GTGAACCCACCCACTCCCTCTGTGAACCCACCCACTCCCTCTGTGAGC	TMEM179	ENSG00000258986.7	transcript	ENST00000556573.6	protein_coding	1/3			chr14	TogoVar
TNR_chr1_175310194_175748595	175650927	C C	CCTCATTA others(371): Show CCTCATTACTACTCCTCCCCATCTCATTACTACCCCTCCCCATCTCATTA CTCCCCCCCACCTCATTACTACTCCTCCCCATCTCATTACTACCCCTCCC CACCTCATTATTCCACCTTCCCCACCTCATTACTACCCCTCCCCACCTCA TTACTACCCCTCCCCATCTCATTACTCCCCCCCACCTCATTACTACCCCT CCCCATCTCATTACTCCTCCTCCCCCATCTCATTACTACCTGTCCCCCAC CTCCTTACTACCCCTCCCCCACCTCATTACTACCCATCTCCCACCTCATT CCTCCTCCTCCCCACCTCATTACTACCCCTCTCCCACCTCATTACTACCC CTCCCCACCTCATTACTACTCCTCCCCAT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0041 a0003c0001t0041	a0003c0001t0041g0025 a0003c0001t0041g0025	1	80	0.0125	378	c.-16 others(399): Show c.-165+92298_-165+92299insATGGGGAGGAGTAGTAATGAGGTG GGGAGGGGTAGTAATGAGGTGGGAGAGGGGTAGTAATGAGGTGGGGAGGA GGAGGAATGAGGTGGGAGATGGGTAGTAATGAGGTGGGGGAGGGGTAGTA AGGAGGTGGGGGACAGGTAGTAATGAGATGGGGGAGGAGGAGTAATGAGA TGGGGAGGGGTAGTAATGAGGTGGGGGGGAGTAATGAGATGGGGAGGGGT AGTAATGAGGTGGGGAGGGGTAGTAATGAGGTGGGGAAGGTGGAATAATG AGGTGGGGAGGGGTAGTAATGAGATGGGGAGGAGTAGTAATGAGGTGGGG GGGAGTAATGAGATGGGGAGGGGTAGTAATGAGATGGGGAGGAGTAGTAA TGAG	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	1/22			chr1	TogoVar
TOLLIP_chr11_1269371_1314632	1287759	C C	CCCTCCCC others(371): Show CCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCGGCCTCCCCGCCGCGGCCTCCCCGCCGCGGC CTCCCCGCCGCGGCCTCCCCGCCGCGGCCTCCCCGCCGCGGCCTCCCCGC CGCGGCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCCCGCCGCGGCCT CCCCGCCGCGGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCG CAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCC CCGCCCCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCCCA CCCTCCCCGCCGCACCCTCCCCGCCGCAG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	278	0.0036	378	c.519 others(393): Show c.519+864_519+865insCTGCGGCGGGGAGGGTGCGGCGGGGAGGGT GGGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGGGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCCGCGGCGGGGA GGCCGCGGCGGGGAGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCCGCGG CGGGGAGGCCGCGGCGGGGAGGCCGCGGCGGGGAGGCCGCGGCGGGGAGG CCGCGGCGGGGAGGCCGCGGCGGGGAGGCCGCGGCGGGGAGGGTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287773	G G	GCCTCCCC others(371): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCG CAGCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCTCC CTGCCGCACCCTCTCTGCTGCAGCCTCCCTGCTGCACCCTCCCTGCTGCA CCCTCCCCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	290	0.0034	378	c.519 others(393): Show c.519+850_519+851insGTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCAGCAGGGAGGGTGCAGCAGGGAGGCTGCAGCAGAGAGGGTGCGGCAGG GAGGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGA GGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCG GGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287808	C C	CGCCGCAC others(371): Show CGCCGCACCCTCTCCGCCGCAGCCTCCCCGCCGCACCCTCTCCGCCGCAG CCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCTG CCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCC TCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCC GCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTC CCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGC AGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTC TGCCGCAGCCTCCCCGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0173 a0001c0002t0003g0173	1	286	0.0035	378	c.519 others(393): Show c.519+815_519+816insAGAGAGGGTGCGGCGGGGAGGCTGCGGCAG AGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTG CGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGG AGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCG GCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAG GGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGC AGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGC TGCGGCGGAGAGGGTGCGGCGGGGAGGCTGCGGCGGAGAGGGTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(371): Show TTATATATAAAAATTATATATATATTATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 NA18980.hp2 HG01891.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0001 a0001c0001t0001g0016	2	150	0.0133	378	c.28 others(389): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2195		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(371): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATACATAAAAATTATATATAT ATTATATATACATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATAATATATATATATAAAAATTATATATATATATTATATATATA TAAAAATTATATATATATATTATATATATATAAAAATTATATATATATAT TATATATATATAAAAATTATATATATATATTATATATATATAAAAATTAT ATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	115	0.0087	378	c.29 others(389): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATACAT AAAAATTATATATATATTATATATACATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATAATATATATATATAAAAATTATATATA TATATTATATATATATAAAAATTATATATATATATTATATATATATAAAA ATTATATATATATATTATATATATATAAAAATTATATATATATATTATAT ATATATAAAAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(371): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATACATAAAAATTATATATAT ATTATATATACATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATAATATATATATATAAAAATTATATATATATATTATATATATA TATAAATTATATATATATATTATATATATATAAAAATTATATATATATAT TATATATATATAAAAATTATATATATATATTATATATATATAAAAATTAT ATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	115	0.0087	378	c.29 others(389): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATACAT AAAAATTATATATATATTATATATACATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATAATATATATATATAAAAATTATATATA TATATTATATATATATATAAATTATATATATATATTATATATATATAAAA ATTATATATATATATTATATATATATAAAAATTATATATATATATTATAT ATATATAAAAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIM67_chr1_231157058_231226565	231202070	G G	GGAGGAGG others(371): Show GGAGGAGGAGGGGGTAGTGGAGGAGGAGGACATAGTGGAGGAGGAGGAGG AGGTGGAAGAGGAGGAGGTGGTGGCTGAGATAATGGAGGAGGAGGAGGAA GTGGGGCAGAGGAGGAGGAGGTAGAGGAGGTAGTCATGGAGGAGGAGATG GAGGAGGAGGAGGAGGTGGAAAAGGAGGAGGTGGTGGCTGAGATAATGGA GAAGGAGGAGGAGATGGAGGAGGAGGAAGAGGTAGCGGAGAAGGAGGAGG TAGTGGAGGAGGAGGAGGAGGTGGAAGAGGAGGAAGTGGTGGCTGAGATA GTGGAGGAGAAGGAGGTAGTAGAGCAGGAGAAGGGGGTAATGGAGGAGGA GGACATAGTGGAGGAGGAGGAGGTGGAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	226	0.0044	378	c.153 others(395): Show c.1534+563_1534+564insGGGTAGTGGAGGAGGAGGACATAGTGGA GGAGGAGGAGGAGGTGGAAGAGGAGGAGGTGGTGGCTGAGATAATGGAGG AGGAGGAGGAAGTGGGGCAGAGGAGGAGGAGGTAGAGGAGGTAGTCATGG AGGAGGAGATGGAGGAGGAGGAGGAGGTGGAAAAGGAGGAGGTGGTGGCT GAGATAATGGAGAAGGAGGAGGAGATGGAGGAGGAGGAAGAGGTAGCGGA GAAGGAGGAGGTAGTGGAGGAGGAGGAGGAGGTGGAAGAGGAGGAAGTGG TGGCTGAGATAGTGGAGGAGAAGGAGGTAGTAGAGCAGGAGAAGGGGGTA ATGGAGGAGGAGGACATAGTGGAGGAGGAGGAGGTGGAAAGAGGAGGAGG	TRIM67	ENSG00000119283.16	transcript	ENST00000366653.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM67_chr1_231157058_231226565	231202070	G G	GGAGGAGG others(371): Show GGAGGAGGAGGGGGTAGTGGAGGAGGAGGACATAGTGGAGGAGGAGGAGG AGGTGGAAGAGGAGGAGGTGGTGGCTGAGATAATGGAGGAGGAGGAGGAA GTGGTGGCAGAGGAGGAGGAGGTAGAGGAGGTAGTCATGGAGGAGGAGAT GGAGGAGGAGGAGGAGGTGGAAAAGGAGGAGGTGGTGGCTGAGATAATGG AGAAGGAGGAGGAGATGGAGGAGGAGGAAGAGGTAGCGGAGAAGGAGGAG GTAGTGGAGAAGGAGGAGGAGGTGGAAGAGGAGGAAGTGGTGGCTGAGAT AGTGGAGGAGAAGGAGGTAGTAGAGCAGGAGAAGGGGGTAATGGAGGAGG AGGACATAGTGGAGGAGGAGGAGGTGGAA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0154 a0007c0016t0001g0154	1	226	0.0044	378	c.153 others(395): Show c.1534+563_1534+564insGGGTAGTGGAGGAGGAGGACATAGTGGA GGAGGAGGAGGAGGTGGAAGAGGAGGAGGTGGTGGCTGAGATAATGGAGG AGGAGGAGGAAGTGGTGGCAGAGGAGGAGGAGGTAGAGGAGGTAGTCATG GAGGAGGAGATGGAGGAGGAGGAGGAGGTGGAAAAGGAGGAGGTGGTGGC TGAGATAATGGAGAAGGAGGAGGAGATGGAGGAGGAGGAAGAGGTAGCGG AGAAGGAGGAGGTAGTGGAGAAGGAGGAGGAGGTGGAAGAGGAGGAAGTG GTGGCTGAGATAGTGGAGGAGAAGGAGGTAGTAGAGCAGGAGAAGGGGGT AATGGAGGAGGAGGACATAGTGGAGGAGGAGGAGGTGGAAGAGGAGGAGG	TRIM67	ENSG00000119283.16	transcript	ENST00000366653.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM67_chr1_231157058_231226565	231202070	G G	GGAGGAGG others(371): Show GGAGGAGGAGGGGGTAGTGGAGGAGGAGGACATAGTGGAGGAGGAGGAGG AGGTGGAAGAGGAGGAGGTGGTGGCTGAGATAATGGAGGAGGAGGAGGAA GTGGTGGCAGAGGAGGAGGAGGTAGAGGAGGTAGTCATGGAGGAGGAGAT GGAGGAGGAGGAGGAGGTGGAAAAGGAGGAGGTGGTGGCTGAGATAATGG AGAAGGAGGAGGAGATGGAGGAGGAGGAAGAGGTAGCGGAGAAGGAGGAG GTAGTGGAGGAGGAGGAGGAGGTGGAAGAGGAGGAAGTGGTGGCTGAGAT AGTGGAGGAGAAGGAGGTAGTAGAGCAGGAGAAGGGGGGTAATGGAGGAG GAGGACATAGTGGAGGAGGAGGAGGTGGA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	226	0.0044	378	c.153 others(395): Show c.1534+563_1534+564insGGGTAGTGGAGGAGGAGGACATAGTGGA GGAGGAGGAGGAGGTGGAAGAGGAGGAGGTGGTGGCTGAGATAATGGAGG AGGAGGAGGAAGTGGTGGCAGAGGAGGAGGAGGTAGAGGAGGTAGTCATG GAGGAGGAGATGGAGGAGGAGGAGGAGGTGGAAAAGGAGGAGGTGGTGGC TGAGATAATGGAGAAGGAGGAGGAGATGGAGGAGGAGGAAGAGGTAGCGG AGAAGGAGGAGGTAGTGGAGGAGGAGGAGGAGGTGGAAGAGGAGGAAGTG GTGGCTGAGATAGTGGAGGAGAAGGAGGTAGTAGAGCAGGAGAAGGGGGG TAATGGAGGAGGAGGACATAGTGGAGGAGGAGGAGGTGGAGAGGAGGAGG	TRIM67	ENSG00000119283.16	transcript	ENST00000366653.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM67_chr1_231157058_231226565	231202070	G G	GGAGGAGG others(371): Show GGAGGAGGAGGGGGTAGTGGAGGAGGAGGACATAGTGGAGGAGGAGGAGG AGGTGGAAGAGGAGGAGGTGGTGGCTGAGATAATGGAGGAGGAGGAGGAA GTGGTGGCAGAGGAGGAGGAGGTAGAGGAGGTAGTCATGGAGGAGGAGAT GGAGGAGGAGGAGGAGGTGGAAAAGGAGGAGGTGGTGGCTGAGATAATGG AGGAGGAGGAGGAGATGGAGGAGGAGGAGGAAGAGGTAGCGGAGAAGGAG GAGGTAGTGGAGGAGGAGGAGGTGGAAGAGGAGGAAGTGGTGGCTGAGAT AGTGGAGGAGAAGGAGGTAGTAGAGCAGGAGAAGGGGGTAATGGAGGAGG AGGACATAGTGGAGGAGGAGGAGGTGGAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18906.hp1 HG02630.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0037 a0001c0004t0010 a0001c0002t0037 a0001c0004t0010	a0001c0002t0037g0062 a0001c0004t0010g0017 a0001c0002t0037g0062 a0001c0004t0010g0017	2	227	0.0088	378	c.153 others(395): Show c.1534+563_1534+564insGGGTAGTGGAGGAGGAGGACATAGTGGA GGAGGAGGAGGAGGTGGAAGAGGAGGAGGTGGTGGCTGAGATAATGGAGG AGGAGGAGGAAGTGGTGGCAGAGGAGGAGGAGGTAGAGGAGGTAGTCATG GAGGAGGAGATGGAGGAGGAGGAGGAGGTGGAAAAGGAGGAGGTGGTGGC TGAGATAATGGAGGAGGAGGAGGAGATGGAGGAGGAGGAGGAAGAGGTAG CGGAGAAGGAGGAGGTAGTGGAGGAGGAGGAGGTGGAAGAGGAGGAAGTG GTGGCTGAGATAGTGGAGGAGAAGGAGGTAGTAGAGCAGGAGAAGGGGGT AATGGAGGAGGAGGACATAGTGGAGGAGGAGGAGGTGGAAGAGGAGGAGG	TRIM67	ENSG00000119283.16	transcript	ENST00000366653.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRPC4AP_chr20_34997404_35097807	35097426	T T	TATACACA others(371): Show TATACACACACACGCGTGTGTATATACATATACACGCGTGTGTATATACA TATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACA CGCGTGTGTGTATACATATACACGCGTGTGTGTATACATATACACGCGTG TGTGTATACATATACACGCGTGTGTGTATACATATACACGCGTGTGTGTA TACATATACACGCGTGTGTGTATACATATACACGCGTGTGTGTATACATA TACACGCGTGTGTGTATACATATACACGCGTGTGTGTATACATATACACG CGTGTGTGTATACATATACACGCGTGTGTGTATACATATACACGCGTGTG TGTATACATATACACGCGTGTGTGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0250 a0001c0001t0003g0250	1	331	0.0030	378	c.-46 others(389): Show c.-4646_-4645insGTATACACACACGCGTGTATATGTATACACACAC GCGTGTATATGTATACACACACGCGTGTATATGTATACACACACGCGTGT ATATGTATACACACACGCGTGTATATGTATACACACACGCGTGTATATGT ATACACACACGCGTGTATATGTATACACACACGCGTGTATATGTATACAC ACACGCGTGTATATGTATACACACACGCGTGTATATGTATACACACACGC GTGTATATGTATACACACACGCGTGTATATGTATACACACACGCGTGTAT ATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTAT ATACACACGCGTGTATATGTATATACACACGCGTGTGTGTGTAT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4620		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097478	T T	TATACACA others(371): Show TATACACACATGTGTGTGTGTATATACATATACACGCGTGTGTATATACA TATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACA CGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGTG TGTATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATA TACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATA TACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACG CGTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGTGTG TATATACATATACACGCGTGTGTATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	325	0.0031	378	c.-46 others(389): Show c.-4698_-4697insGTATATACACACGCGTGTATATGTATATACACAC GCGTGTATATGTATATACACACGCGTGTATATGTATATACACACGCGTGT ATATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGT ATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATAC ACACGCGTGTATATGTATATACACACGCGTGTATATGTATATACACACGC GTGTATATGTATATACACACGCGTGTATATGTATATACACACGCGTGTAT ATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTAT ATACACACGCGTGTATATGTATATACACACACACATGTGTGTAT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4672		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097648	T T	TACATATA others(371): Show TACATATACACGCGTGCGTATATACATATACACGCGTGCGTATATACATA TACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATA CACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACA CGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACG CGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCG TGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTG CGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTGCG TATATATACATATACACGCGTGCGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	252	0.0040	378	c.-48 others(389): Show c.-4868_-4867insGTATACGCACGCGTGTATATGTATATATACGCAC GCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGC GTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGT GTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTAT ATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATAT GTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGT ATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4842		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097652	C C	CATATACA others(371): Show CATATACACGCGTGCGTATATACATATACACGCGTGCGTATATACATATA CACGCGTGCGTATATACATATACACGCGTGCGTATATATACATATACACG CGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCG TGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTG CGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTGCG TATATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTA TATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATA TATACATATACACGCGTGCGTATACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	178	0.0056	378	c.-48 others(389): Show c.-4872_-4871insATGTGTATACGCACGCGTGTATATGTATATATAC GCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGC ACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCAC GCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGC GTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGT GTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATACGCACGCGTGTATAT GTATATACGCACGCGTGTATATGTATATACGCACGCGTGTATAT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4846		chr20	TogoVar
TSNARE1_chr8_142207080_142408182	142222744	T T	TCATTCAC others(371): Show TCATTCACTCATCCACTCACTCACTCATCCACTCACTCACTCACTCATCC ACTCACTCACTCATTCACTCACTCACTCATTCACTCACTCATTCATCCAC TCACTCATCCACTCACTCATTCACTTACTCATCCACTCACTCATTCACTT ACTCATCCACTCACTCATTCACTCATTCACTCATCCACTCATTCACTCAC TCATCCACTCACTCACTCATTCACTCACTCACTCATTCACTCACTCTCTC ATTCACTCATTTACTCACTCACTCAGCCACTCACTCATTCACTCACTCAT TCACTCATTCACTCACTCACTCATTCACTCACTCATTCACTCATTCACTC ACTCACTCATACTCATTCACTCATTCATC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01069.hp2 HG01071.hp2 others(26): Show HG00621.hp1 HG01069.hp2 HG01071.hp2 HG01433.hp2 HG01884.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02523.hp2 HG02602.hp1 HG02683.hp1 HG02976.hp2 HG03139.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp2 NA18963.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA19004.hp1 NA19064.hp1 NA19085.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0005c0009 a0006c0006 a0007c0007 a0008c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0004 a0004c0004t0001 a0005c0005t0002 a0005c0009t0001 a0006c0006t0001 a0007c0007t0004 a0008c0008t0001	a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0063 others(26): Show a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0003g0028 a0001c0001t0004g0054 a0002c0002t0001g0089 a0002c0002t0002g0152 a0002c0002t0002g0165 a0003c0003t0001g0106 a0003c0003t0001g0111 a0003c0003t0001g0114 a0003c0003t0001g0116 a0003c0003t0001g0118 a0003c0003t0001g0127 a0003c0003t0001g0133 a0003c0003t0001g0137 a0003c0003t0004g0103 a0004c0004t0001g0130 a0004c0004t0001g0140 a0004c0004t0001g0141 a0005c0005t0002g0224 a0005c0009t0001g0233 a0006c0006t0001g0231 a0007c0007t0004g0005 a0008c0008t0001g0192	29	217	0.1336	378	c.11 others(395): Show c.11+6728_*11+6729insGATGAATGAGTGAATGAGTATGAGTGAG TGAGTGAATGAGTGAATGAGTGAGTGAATGAGTGAGTGAGTGAATGAGTG AATGAGTGAGTGAATGAGTGAGTGGCTGAGTGAGTGAGTAAATGAGTGAA TGAGAGAGTGAGTGAATGAGTGAGTGAGTGAATGAGTGAGTGAGTGGATG AGTGAGTGAATGAGTGGATGAGTGAATGAGTGAATGAGTGAGTGGATGAG TAAGTGAATGAGTGAGTGGATGAGTAAGTGAATGAGTGAGTGGATGAGTG AGTGGATGAATGAGTGAGTGAATGAGTGAGTGAGTGAATGAGTGAGTGAG TGGATGAGTGAGTGAGTGAGTGGATGAGTGAGTGAGTGGATGAGTGAATG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	13/13			chr8	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(371): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0006 a0001c0001t0001g0029	2	23	0.0870	378	c.-38 others(389): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACAAGTGTGTATATACGTATATACACAAGT GTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UMODL1_chr21_42066317_42147996	42108835	G G	GGTGTGGG others(371): Show GGTGTGGGAAGTTCATGTTGTACTCAGCTGGACCCCACCCCCGCGCGGGA AGTTCATGTTGTACTCAGGCTGACCCCCACCCCCGGCGTGGGAAGTTCAT GTTATACTCAGGCTGACCCCCACCCCCGCGCGGGAAGTTCATGTTGTACT CGGCTGGACCCCACCCCCCACGCGGGAAGTTCATGTTATACTCAGGCTGA CCCCCACCCCCGGCGTGGGAAGTTCATGTTGTACTCAGCTGGACCCCACC CCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCAGCGT GGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCGCGCGGGAAGTTC ATGTTATACTCCGCTGGACCCCACCCCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18522.hp1 HG02109.hp2 NA18522.hp1	a0044 a0044	a0044c0054 a0044c0054	a0044c0054t0001 a0044c0054t0001	a0044c0054t0001g0376 a0044c0054t0001g0379 a0044c0054t0001g0376 a0044c0054t0001g0379	2	398	0.0050	378	c.152 others(395): Show c.1520-726_1520-725insTGTGGGAAGTTCATGTTGTACTCAGCTG GACCCCACCCCCGCGCGGGAAGTTCATGTTGTACTCAGGCTGACCCCCAC CCCCGGCGTGGGAAGTTCATGTTATACTCAGGCTGACCCCCACCCCCGCG CGGGAAGTTCATGTTGTACTCGGCTGGACCCCACCCCCCACGCGGGAAGT TCATGTTATACTCAGGCTGACCCCCACCCCCGGCGTGGGAAGTTCATGTT GTACTCAGCTGGACCCCACCCCCCGCGCGGGAAGTTCATGTTATACTCCG CTGGACCCCACCCCCAGCGTGGGAAGTTCATGTTATACTCCGCTGGACCC CACCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCCG	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42108877	G G	GCGAGGGA others(371): Show GCGAGGGAAGTTCATGTTGTACTCAGGCTGACCCCCACCCCCGGCGTGGG AAGTTCATGTTATACTCAGGCTGACCCCCACCCCCGCGCGGGAAGTTCAT GTTGTACTCGGCTGGACCCCACCCCCCACGCGGGAAGTTCATGTTATACT CAGGCTGACCCCCACCCCCGGCGTGGGAAGTTCATGTTGTACTCAGCTGG ACCCCACCCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCCCACC CCCAGCGTGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCGCGCG GGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCCGCGCGGGAAGTTC ATGTTATACTCAGCTGGACCCCACCCCCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0066 a0066	a0066c0081 a0066c0081	a0066c0081t0006 a0066c0081t0006	a0066c0081t0006g0302 a0066c0081t0006g0302	1	258	0.0039	378	c.152 others(395): Show c.1520-685_1520-684insCGAGGGAAGTTCATGTTGTACTCAGGCT GACCCCCACCCCCGGCGTGGGAAGTTCATGTTATACTCAGGCTGACCCCC ACCCCCGCGCGGGAAGTTCATGTTGTACTCGGCTGGACCCCACCCCCCAC GCGGGAAGTTCATGTTATACTCAGGCTGACCCCCACCCCCGGCGTGGGAA GTTCATGTTGTACTCAGCTGGACCCCACCCCCCGCGCGGGAAGTTCATGT TATACTCCGCTGGACCCCACCCCCAGCGTGGGAAGTTCATGTTATACTCC GCTGGACCCCACCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCC CACCCCCCGCGCGGGAAGTTCATGTTATACTCAGCTGGACCCCACCCCCC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	9/22			chr21	TogoVar
UMODL1_chr21_42066317_42147996	42108877	G G	GCGCGGGA others(371): Show GCGCGGGAAGTTCATGTTGTACTCAGGCTGACCCCCACCCCCGGCGTGGG AAGTTCATGTTATACTCAGGCTGACCCCCACCCCCGCGCGGGAAGTTCAC GTTGTACTCAGCTGGACCCCACCCCCCACGCGGGAAGTTCATGTTATACT CAGGCTGACCCCCACCCCCGGCGTGGGAAGTTCATGTTGTACTCAGCTGG ACCCCACCCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCCCACC CCCAGCGTGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCGCGCG GGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCCGCGCGGGAAGTTC ATGTTATACTCAGCTGGACCCCACCCCCC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0104 a0104	a0104c0072 a0104c0072	a0104c0072t0014 a0104c0072t0014	a0104c0072t0014g0255 a0104c0072t0014g0255	1	258	0.0039	378	c.152 others(395): Show c.1520-685_1520-684insCGCGGGAAGTTCATGTTGTACTCAGGCT GACCCCCACCCCCGGCGTGGGAAGTTCATGTTATACTCAGGCTGACCCCC ACCCCCGCGCGGGAAGTTCACGTTGTACTCAGCTGGACCCCACCCCCCAC GCGGGAAGTTCATGTTATACTCAGGCTGACCCCCACCCCCGGCGTGGGAA GTTCATGTTGTACTCAGCTGGACCCCACCCCCCGCGCGGGAAGTTCATGT TATACTCCGCTGGACCCCACCCCCAGCGTGGGAAGTTCATGTTATACTCC GCTGGACCCCACCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCC CACCCCCCGCGCGGGAAGTTCATGTTATACTCAGCTGGACCCCACCCCCC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	9/22			chr21	TogoVar
UMODL1_chr21_42066317_42147996	42108877	G G	GCGCGGGA others(371): Show GCGCGGGAAGTTCATGTTGTACTCAGGCTGACCCCCACCCCCGGCGTGGG AAGTTCATGTTATACTCAGGCTGACCCCCACCCCCGCGCGGGAAGTTCAT GTTGTACTCAGCTGGACCCCACCCCCCACGCGGGAAGTTCATGTTATACT CAGGCTGACCCCCACCCCCGGCGTGGGAAGTTCATGTTGTACTCAGCTGG ACCCCACCCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCCCACC CCCAGCGTGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCGCGCG GGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCCGCGCGGGAAGTTC ATGTTATACTCAGCTGGACCCCACCCCCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG00642.hp1 others(56): Show HG00408.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG01123.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02257.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03834.hp1 HG04184.hp2 HG04204.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18955.hp2 NA18966.hp1 NA18972.hp2 NA18985.hp2 NA18997.hp2 NA19000.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19057.hp2 NA19064.hp1 NA19081.hp1 NA19082.hp2 NA19088.hp1 NA20805.hp2	a0001 a0003 a0004 others(27): Show a0001 a0003 a0004 a0005 a0006 a0008 a0011 a0014 a0023 a0024 a0031 a0033 a0036 a0037 a0042 a0043 a0045 a0050 a0052 a0058 a0059 a0063 a0070 a0080 a0088 a0089 a0094 a0103 a0114 a0117	a0001c0134 a0003c0045 a0003c0046 others(29): Show a0001c0134 a0003c0045 a0003c0046 a0004c0031 a0005c0013 a0006c0003 a0008c0012 a0011c0135 a0014c0009 a0023c0044 a0024c0062 a0031c0094 a0033c0116 a0036c0091 a0037c0047 a0042c0069 a0043c0042 a0045c0041 a0050c0107 a0050c0109 a0052c0038 a0058c0090 a0059c0071 a0063c0093 a0070c0106 a0080c0066 a0088c0085 a0089c0108 a0094c0068 a0103c0067 a0114c0070 a0117c0077	a0001c0134t0004 a0003c0045t0001 a0003c0046t0007 others(32): Show a0001c0134t0004 a0003c0045t0001 a0003c0046t0007 a0004c0031t0002 a0005c0013t0001 a0006c0003t0002 a0008c0012t0001 a0008c0012t0004 a0011c0135t0001 a0014c0009t0008 a0023c0044t0011 a0024c0062t0001 a0031c0094t0002 a0033c0116t0002 a0036c0091t0002 a0037c0047t0002 a0037c0047t0015 a0042c0069t0004 a0043c0042t0004 a0043c0042t0009 a0045c0041t0001 a0050c0107t0001 a0050c0109t0001 a0052c0038t0014 a0058c0090t0001 a0059c0071t0001 a0063c0093t0001 a0070c0106t0001 a0080c0066t0001 a0088c0085t0002 a0089c0108t0002 a0094c0068t0002 a0103c0067t0001 a0114c0070t0001 a0117c0077t0002	a0001c0134t0004g0258 a0003c0045t0001g0117 a0003c0046t0007g0336 others(54): Show a0001c0134t0004g0258 a0003c0045t0001g0117 a0003c0046t0007g0336 a0004c0031t0002g0311 a0005c0013t0001g0006 a0005c0013t0001g0222 a0005c0013t0001g0223 a0005c0013t0001g0227 a0006c0003t0002g0055 a0006c0003t0002g0094 a0006c0003t0002g0096 a0006c0003t0002g0099 a0006c0003t0002g0100 a0006c0003t0002g0101 a0006c0003t0002g0199 a0006c0003t0002g0237 a0006c0003t0002g0318 a0006c0003t0002g0321 a0008c0012t0001g0046 a0008c0012t0001g0317 a0008c0012t0001g0320 a0008c0012t0001g0343 a0008c0012t0004g0155 a0011c0135t0001g0240 a0014c0009t0008g0004 a0014c0009t0008g0118 a0014c0009t0008g0144 a0014c0009t0008g0145 a0014c0009t0008g0146 a0023c0044t0011g0027 a0023c0044t0011g0119 a0024c0062t0001g0293 a0031c0094t0002g0283 a0033c0116t0002g0109 a0036c0091t0002g0098 a0037c0047t0002g0286 a0037c0047t0015g0322 a0042c0069t0004g0383 a0043c0042t0004g0097 a0043c0042t0009g0232 a0045c0041t0001g0012 a0045c0041t0001g0014 a0050c0107t0001g0158 a0050c0109t0001g0228 a0052c0038t0014g0235 a0052c0038t0014g0297 a0058c0090t0001g0316 a0059c0071t0001g0350 a0063c0093t0001g0289 a0070c0106t0001g0157 a0080c0066t0001g0197 a0088c0085t0002g0218 a0089c0108t0002g0159 a0094c0068t0002g0278 a0103c0067t0001g0349 a0114c0070t0001g0254 a0117c0077t0002g0035	59	316	0.1867	378	c.152 others(395): Show c.1520-685_1520-684insCGCGGGAAGTTCATGTTGTACTCAGGCT GACCCCCACCCCCGGCGTGGGAAGTTCATGTTATACTCAGGCTGACCCCC ACCCCCGCGCGGGAAGTTCATGTTGTACTCAGCTGGACCCCACCCCCCAC GCGGGAAGTTCATGTTATACTCAGGCTGACCCCCACCCCCGGCGTGGGAA GTTCATGTTGTACTCAGCTGGACCCCACCCCCCGCGCGGGAAGTTCATGT TATACTCCGCTGGACCCCACCCCCAGCGTGGGAAGTTCATGTTATACTCC GCTGGACCCCACCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCC CACCCCCCGCGCGGGAAGTTCATGTTATACTCAGCTGGACCCCACCCCCC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	9/22			chr21	TogoVar
UMODL1_chr21_42066317_42147996	42108877	G G	GCGCGGGA others(371): Show GCGCGGGAAGTTCATGTTGTACTCAGGCTGACCCCCACCCCCGGCGTGGG AAGTTCATGTTATACTCAGGCTGACCCCCACCCCCGCGCGGGAAGTTCAT GTTGTACTCGGCTGGACCCCACCCCCCACGCGGGAAGTTCATGTTATACT CAGGCTGACCCCCACCCCCGGCGTGGGAAGTTCATGTTGTACTCAGCTGG ACCCCACCCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCCCACC CCCAGCGTGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCGCGCG GGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCCGCGCGGGAAGTTC ATGTTATACTCAGCTGGACCCCACCCCCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00609.hp1 others(61): Show HG00438.hp1 HG00597.hp2 HG00609.hp1 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01891.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02165.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18979.hp2 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19011.hp2 NA19065.hp1 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0003 a0005 a0007 others(23): Show a0003 a0005 a0007 a0009 a0012 a0016 a0017 a0023 a0025 a0026 a0034 a0035 a0041 a0053 a0055 a0057 a0071 a0079 a0085 a0086 a0095 a0100 a0101 a0108 a0120 a0121	a0003c0051 a0003c0102 a0005c0019 others(34): Show a0003c0051 a0003c0102 a0005c0019 a0005c0170 a0007c0006 a0007c0078 a0009c0017 a0009c0018 a0012c0120 a0012c0145 a0012c0187 a0016c0032 a0016c0125 a0017c0011 a0023c0099 a0023c0101 a0025c0028 a0026c0025 a0026c0079 a0034c0111 a0035c0163 a0035c0164 a0035c0165 a0041c0147 a0053c0065 a0055c0080 a0057c0186 a0071c0105 a0079c0141 a0085c0100 a0086c0158 a0095c0143 a0100c0126 a0101c0086 a0108c0124 a0120c0138 a0121c0137	a0003c0051t0001 a0003c0102t0001 a0005c0019t0001 others(44): Show a0003c0051t0001 a0003c0102t0001 a0005c0019t0001 a0005c0019t0027 a0005c0170t0001 a0007c0006t0001 a0007c0006t0003 a0007c0006t0016 a0007c0006t0029 a0007c0078t0003 a0009c0017t0003 a0009c0017t0006 a0009c0017t0016 a0009c0018t0001 a0009c0018t0003 a0012c0120t0001 a0012c0145t0001 a0012c0187t0001 a0016c0032t0001 a0016c0032t0005 a0016c0125t0005 a0017c0011t0002 a0017c0011t0015 a0023c0099t0001 a0023c0101t0026 a0025c0028t0001 a0026c0025t0001 a0026c0025t0003 a0026c0079t0001 a0034c0111t0012 a0035c0163t0024 a0035c0164t0001 a0035c0165t0001 a0041c0147t0001 a0053c0065t0001 a0055c0080t0002 a0057c0186t0003 a0071c0105t0019 a0079c0141t0035 a0085c0100t0001 a0086c0158t0001 a0095c0143t0001 a0100c0126t0022 a0101c0086t0002 a0108c0124t0002 a0120c0138t0001 a0121c0137t0005	a0003c0051t0001g0076 a0003c0051t0001g0082 a0003c0102t0001g0307 others(59): Show a0003c0051t0001g0076 a0003c0051t0001g0082 a0003c0102t0001g0307 a0005c0019t0001g0268 a0005c0019t0027g0362 a0005c0170t0001g0037 a0007c0006t0001g0238 a0007c0006t0003g0033 a0007c0006t0003g0186 a0007c0006t0003g0189 a0007c0006t0003g0248 a0007c0006t0003g0252 a0007c0006t0003g0253 a0007c0006t0016g0167 a0007c0006t0029g0065 a0007c0078t0003g0338 a0009c0017t0003g0326 a0009c0017t0003g0327 a0009c0017t0006g0328 a0009c0017t0016g0287 a0009c0018t0001g0125 a0009c0018t0001g0201 a0009c0018t0001g0282 a0009c0018t0003g0319 a0012c0120t0001g0325 a0012c0145t0001g0212 a0012c0187t0001g0226 a0016c0032t0001g0078 a0016c0032t0005g0088 a0016c0032t0005g0089 a0016c0125t0005g0085 a0017c0011t0002g0245 a0017c0011t0002g0246 a0017c0011t0002g0247 a0017c0011t0002g0264 a0017c0011t0015g0342 a0023c0099t0001g0221 a0023c0101t0026g0331 a0025c0028t0001g0008 a0025c0028t0001g0274 a0026c0025t0001g0084 a0026c0025t0001g0263 a0026c0025t0003g0034 a0026c0079t0001g0229 a0034c0111t0012g0275 a0035c0163t0024g0267 a0035c0164t0001g0074 a0035c0165t0001g0266 a0041c0147t0001g0367 a0053c0065t0001g0007 a0055c0080t0002g0234 a0057c0186t0003g0174 a0071c0105t0019g0083 a0079c0141t0035g0371 a0085c0100t0001g0149 a0086c0158t0001g0370 a0095c0143t0001g0277 a0100c0126t0022g0073 a0101c0086t0002g0013 a0108c0124t0002g0206 a0120c0138t0001g0072 a0121c0137t0005g0162	64	321	0.1994	378	c.152 others(395): Show c.1520-685_1520-684insCGCGGGAAGTTCATGTTGTACTCAGGCT GACCCCCACCCCCGGCGTGGGAAGTTCATGTTATACTCAGGCTGACCCCC ACCCCCGCGCGGGAAGTTCATGTTGTACTCGGCTGGACCCCACCCCCCAC GCGGGAAGTTCATGTTATACTCAGGCTGACCCCCACCCCCGGCGTGGGAA GTTCATGTTGTACTCAGCTGGACCCCACCCCCCGCGCGGGAAGTTCATGT TATACTCCGCTGGACCCCACCCCCAGCGTGGGAAGTTCATGTTATACTCC GCTGGACCCCACCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCC CACCCCCCGCGCGGGAAGTTCATGTTATACTCAGCTGGACCCCACCCCCC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	9/22			chr21	TogoVar
UMODL1_chr21_42066317_42147996	42146582	G G	GTGTCTCT others(371): Show GTGTCTCTGTCCCTCCTGGGGAGGAGGGCTGTGGTGGGAGTCAACCCTCG CATCCCATCTCTGTCCCTCTTGGGGAGGAGGGCTGTGGTGGGAGTCACCC CCCGCATCCCATCTCTGTCCCTCTTGGGGAGGAGGGCTGAGGTTGGAGTC ACCCCCTGCACCCTGTCTCTGTCCCTCCTGGGGAGGAGGGCTGAGGTTGG AGTCACCCCCTGCACCCCGTCTCTGTCCCTCCTGGGGAGGAGGGCTGAGG TTGGAGTCACCCCCTGCACCCTGTCTCTGTCCCTCCTGGGGAGGAGGGCT GTGGTGGGAGTCACCCCCCGCATCCCATCTCTGTCCCTCTTGGGGAGGAG GGCTGAGGTTGGAGTCACCCCCTGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01255.hp1 others(1): Show HG00735.hp2 HG00738.hp1 HG01255.hp1 HG03710.hp2	a0004 a0034 a0004 a0034	a0004c0031 a0004c0056 a0034c0052 a0004c0031 a0004c0056 a0034c0052	a0004c0031t0002 a0004c0056t0002 a0034c0052t0002 a0004c0031t0002 a0004c0056t0002 a0034c0052t0002	a0004c0031t0002g0241 a0004c0056t0002g0036 a0004c0056t0002g0061 others(1): Show a0004c0031t0002g0241 a0004c0056t0002g0036 a0004c0056t0002g0061 a0034c0052t0002g0262	4	304	0.0132	378	c.45 others(389): Show c.4508_*4509insTGTCTCTGTCCCTCCTGGGGAGGAGGGCTGTGGT GGGAGTCAACCCTCGCATCCCATCTCTGTCCCTCTTGGGGAGGAGGGCTG TGGTGGGAGTCACCCCCCGCATCCCATCTCTGTCCCTCTTGGGGAGGAGG GCTGAGGTTGGAGTCACCCCCTGCACCCTGTCTCTGTCCCTCCTGGGGAG GAGGGCTGAGGTTGGAGTCACCCCCTGCACCCCGTCTCTGTCCCTCCTGG GGAGGAGGGCTGAGGTTGGAGTCACCCCCTGCACCCTGTCTCTGTCCCTC CTGGGGAGGAGGGCTGTGGTGGGAGTCACCCCCCGCATCCCATCTCTGTC CCTCTTGGGGAGGAGGGCTGAGGTTGGAGTCACCCCCTGCACCC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding		3587		chr21	TogoVar
VCX3B_chrX_8459830_8471510	8466576	G G	GGGGAGGG others(371): Show GGGGAGGGAGGGAGGGAGGGGGGAAGCGGTGGTGTGTGGGGAGGGAGGGA GGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0026 a0005c0004t0026	a0005c0004t0026g0005 a0005c0004t0026g0005	1	169	0.0059	378	c.19 others(387): Show c.193_*194insGGGAGGGAGGGAGGGAGGGGGGAAGCGGTGGTGTGT GGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG AGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		67		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466813	G G	GGGGAGGG others(371): Show GGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGG GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGA GGGAGGGAGGGAGAGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0003 a0001c0001t0023g0003	1	210	0.0048	378	c.43 others(387): Show c.430_*431insGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGT GTGTGGGGAGGGAGGGAGGGAGGGAGAGGTGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		304		chrX	TogoVar
VIPR2_chr7_159023175_159149867	159129105	G G	GCAGCTTC others(371): Show GCAGCTTCACACTCTGTTCCCTCAAACTGGCCTCTGGGGGGGACAGGGCT GGGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGG ACTCTGGTGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCA AACTGGACTCTGGTGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTT CCCTCAAACTGGCCTCTGGGGGGGACAGGGCTGGGGGGACAGGGCCAGGT GACCAGCTTCACACTCTGTTCCCTCAAACTGGACTCTGGTGGGGACAGGG CCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGACTCTGGTCGGG ACAGGGCTGGGGGGACAGGGCCAGGTGAC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0195 a0001c0004t0004g0195	1	275	0.0036	378	c.151 others(397): Show c.151+13340_151+13341insGTCACCTGGCCCTGTCCCCCCAGCCC TGTCCCGACCAGAGTCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACC TGGCCCTGTCCCCACCAGAGTCCAGTTTGAGGGAACAGAGTGTGAAGCTG GTCACCTGGCCCTGTCCCCCCAGCCCTGTCCCCCCCAGAGGCCAGTTTGA GGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCACCAGAGTCCA GTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCACCAG AGTCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCC CCCAGCCCTGTCCCCCCCAGAGGCCAGTTTGAGGGAACAGAGTGTGAAGC TG	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159129105	G G	GCAGCTTC others(371): Show GCAGCTTCACACTCTGTTCCCTCAAACTGGCCTCTGGGGGGGACAGGGCT GGGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGG ACTCTGGTGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCA AACTGGACTCTGGTGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTT CCCTCAAACTGGCCTCTGGGGGGGACAGGGCTGGGGGGACAGGGCCAGGT GACCAGCTTCACACTCTGTTCCCTCAAACTGGACTCTGGTGGGGACAGGG CCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGACTCTGGTGGGG ACAGGGCTGGGGGGACAGGGCCAGGTGAC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18969.hp2 NA18975.hp1 NA18964.hp1 NA18969.hp2 NA18975.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0193 a0001c0004t0004g0194 a0001c0004t0004g0289 a0001c0004t0004g0193 a0001c0004t0004g0194 a0001c0004t0004g0289	3	277	0.0108	378	c.151 others(397): Show c.151+13340_151+13341insGTCACCTGGCCCTGTCCCCCCAGCCC TGTCCCCACCAGAGTCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACC TGGCCCTGTCCCCACCAGAGTCCAGTTTGAGGGAACAGAGTGTGAAGCTG GTCACCTGGCCCTGTCCCCCCAGCCCTGTCCCCCCCAGAGGCCAGTTTGA GGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCACCAGAGTCCA GTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCACCAG AGTCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCC CCCAGCCCTGTCCCCCCCAGAGGCCAGTTTGAGGGAACAGAGTGTGAAGC TG	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(371): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	9	0.1111	378	c.917 others(397): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA AAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCT TCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTG AA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(371): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03669.hp2 HG02647.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0213 a0001c0001t0001g0115 a0001c0001t0001g0213	2	10	0.2000	378	c.917 others(397): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA ATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTG AA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(371): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp2 HG01123.hp1 others(10): Show HG00639.hp2 HG00673.hp2 HG01123.hp1 HG01358.hp2 HG01361.hp1 HG02027.hp1 NA18612.hp2 NA18982.hp1 NA18986.hp1 NA19010.hp2 NA19068.hp1 NA19090.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0122 a0001c0001t0001g0123 others(10): Show a0001c0001t0001g0105 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0150 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198	13	21	0.6190	378	c.917 others(397): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA ATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCT TCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTG AA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(371): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA21309.hp2 HG01069.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0145 a0001c0001t0001g0056 a0001c0001t0001g0145	2	10	0.2000	378	c.917 others(397): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA ATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCT TCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTG AA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
ZC3H3_chr8_143432659_143546447	143498791	T T	TACAAGAC others(371): Show TACAAGACGGGGCGGAGGGGCACAGGGCGGGGCGGAGGGGCACAGGGCGG GGCGGAGGGGCACAGGGCGGGGCGGAGGGGCACAGGGCGGGGCGGAGGGG CACAGGACGGGGCGGAGGGGCACAGGGCGGGGCAGAGGGGTACAGGGCGG GGAAGAGGGGCACAGGGCGGGGCGGAGGGGCACAGGGCAGGGCAGGGGGT ACAGGACGCGGCGGAGGGGCACAGGGCGGGGCGGAGGGGCACAGGGCGGG GCGGAGGGGCACAGGGCGGGGCGGAGGGGCACAGGGCGGGGCAGAGGGGT ACAGGGCGGGGCGGAGGGGCACAGGGCGGGGCGGAGGGGCACAGGGCAGG GCAGGGGGTACAGGACGGGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0001 a0019c0019t0001	a0019c0019t0001g0165 a0019c0019t0001g0165	1	346	0.0029	378	c.171 others(397): Show c.1715+8954_1715+8955insGCCCCTCCTCCCCGTCCTGTACCCCC TGCCCTGCCCTGTGCCCCTCCGCCCCGCCCTGTGCCCCTCCGCCCCGCCC TGTACCCCTCTGCCCCGCCCTGTGCCCCTCCGCCCCGCCCTGTGCCCCTC CGCCCCGCCCTGTGCCCCTCCGCCCCGCCCTGTGCCCCTCCGCCGCGTCC TGTACCCCCTGCCCTGCCCTGTGCCCCTCCGCCCCGCCCTGTGCCCCTCT TCCCCGCCCTGTACCCCTCTGCCCCGCCCTGTGCCCCTCCGCCCCGTCCT GTGCCCCTCCGCCCCGCCCTGTGCCCCTCCGCCCCGCCCTGTGCCCCTCC GCCCCGCCCTGTGCCCCTCCGCCCCGCCCTGTGCCCCTCCGCCCCGTCTT GT	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143498791	T T	TACAAGAC others(371): Show TACAAGACGGGGCGGAGGGGCACAGGGCGGGGCGGAGGGGCACAGGGCGG GGCGGAGGGGCACAGGGCGGGGCGGAGGGGTACAGGGCGGGGCGGAGGGG CACAGGACGGGGCGGAGGGGCACAGGGCGGGGCAGAGGGGTACAGGGCGG GGAAGAGGGGCACAGGGCGGGGCGGAGGGGCACAGGGCAGGGCAGGGGGT ACAGGACGCGGCGGAGGGGCACAGGGCGGGGCGGAGGGGCACAGGGCGGG GCGGAGGGGCACAGGGCGGGGCGGAGGGGCACAGGGCGGGGCAGAGGGGT ACAGGGCGGGGCGGAGGGGCACAGGGCGGGGCGGAGGGGCACAGGGCAGG GCAGGGGGTACAGGACGGGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp1 HG02615.hp2 others(1): Show HG02258.hp1 HG02572.hp1 HG02615.hp2 HG03540.hp1	a0001 a0018 a0019 a0001 a0018 a0019	a0001c0039 a0018c0020 a0019c0019 a0001c0039 a0018c0020 a0019c0019	a0001c0039t0001 a0018c0020t0001 a0019c0019t0001 a0001c0039t0001 a0018c0020t0001 a0019c0019t0001	a0001c0039t0001g0062 a0018c0020t0001g0166 a0018c0020t0001g0167 others(1): Show a0001c0039t0001g0062 a0018c0020t0001g0166 a0018c0020t0001g0167 a0019c0019t0001g0168	4	349	0.0115	378	c.171 others(397): Show c.1715+8954_1715+8955insGCCCCTCCTCCCCGTCCTGTACCCCC TGCCCTGCCCTGTGCCCCTCCGCCCCGCCCTGTGCCCCTCCGCCCCGCCC TGTACCCCTCTGCCCCGCCCTGTGCCCCTCCGCCCCGCCCTGTGCCCCTC CGCCCCGCCCTGTGCCCCTCCGCCCCGCCCTGTGCCCCTCCGCCGCGTCC TGTACCCCCTGCCCTGCCCTGTGCCCCTCCGCCCCGCCCTGTGCCCCTCT TCCCCGCCCTGTACCCCTCTGCCCCGCCCTGTGCCCCTCCGCCCCGTCCT GTGCCCCTCCGCCCCGCCCTGTACCCCTCCGCCCCGCCCTGTGCCCCTCC GCCCCGCCCTGTGCCCCTCCGCCCCGCCCTGTGCCCCTCCGCCCCGTCTT GT	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZFP42_chr4_187990771_188010046	187992046	G G	GGGGAGAG others(371): Show GGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGG AGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGG GAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGA GGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGA GAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTGGGGAGAGGGAGAGGGA GAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGG GAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGA GGGAGAGGGAGACCGTGGGGAGAGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	125	0.0080	378	c.-41 others(389): Show c.-4133_-4132insGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAG ACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGA GAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGG GAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGA CCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTGG GGAGAGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGA GACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACC GTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGA	ZFP42	ENSG00000179059.10	transcript	ENST00000326866.5	protein_coding		3724		chr4	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(371): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCACACATAT CACACATATCATATATATCACACATATCACATATATCATATATATCATAC ATATCACATATATGATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	166	0.0060	378	c.-36 others(389): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCACACATATCACACATATCATATATATCACACATATCACATATA TCATATATATCATACATATCACATATATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(371): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATACATAT CACATATATCATATATATCATACATATCACATATATCATATATATCATAC ATATCACATATATGATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG03669.hp2 NA19087.hp1 HG00673.hp2 HG03669.hp2 NA19087.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0004 a0001c0001 a0002c0002 a0005c0004	a0001c0001t0004 a0002c0002t0001 a0005c0004t0004 a0001c0001t0004 a0002c0002t0001 a0005c0004t0004	a0001c0001t0004g0018 a0002c0002t0001g0019 a0005c0004t0004g0017 a0001c0001t0004g0018 a0002c0002t0001g0019 a0005c0004t0004g0017	3	168	0.0179	378	c.-36 others(389): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATACATATCACATATATCATATATATCATACATATCACATATA TCATATATATCATACATATCACATATATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(371): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATACATAT CACATATATCATATATATCATACATATCACATATATCATATATATCATAC ATATCACATATATGATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG03942.hp2 NA18963.hp1 HG02735.hp2 HG03942.hp2 NA18963.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0018 a0002c0002t0001 a0001c0001t0004 a0001c0001t0018 a0002c0002t0001	a0001c0001t0004g0001 a0001c0001t0018g0076 a0002c0002t0001g0051 a0001c0001t0004g0001 a0001c0001t0018g0076 a0002c0002t0001g0051	3	168	0.0179	378	c.-36 others(389): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATACATATCACATATATCATATATATCATACATATCACATATA TCATATATATCATACATATCACATATATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(371): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATACATAT CACATATATCATATATATCATACATATCACATATATGATATATATCATAT ATATCACATATATGATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 NA19067.hp1 HG00609.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	2	167	0.0120	378	c.-36 others(389): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATACATATCACATATATCATATATATCATACATATCACATATA TGATATATATCATATATATCACATATATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(371): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATACATAT CACATATATCATATATATCATACATATCACATATATCATATATATCATAC ATATCACATATATGATATATATCATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	166	0.0060	378	c.-36 others(389): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATACATATCACATATATCATATATATCATACATATCACATATA TCATATATATCATACATATCACATATATGATATATATCATACAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(371): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATACATAT CACATATATCATATATATCATACATATCACATATATCATATATATCATAC ATATCACATATATGATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG03491.hp1 HG03704.hp2 others(2): Show HG02735.hp1 HG03491.hp1 HG03704.hp2 NA18953.hp2 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0025 others(2): Show a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0025 a0002c0002t0001g0046 a0002c0002t0001g0052	5	170	0.0294	378	c.-36 others(389): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATACATATCACATATATCATATATATCATACATATCACATATA TCATATATATCATACATATCACATATATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(371): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCGTACATAT CACATATATCATATATATCATACATATCACATATATCATATATATCATAC ATATCACATATATGATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	166	0.0060	378	c.-36 others(389): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCGTACATATCACATATATCATATATATCATACATATCACATATA TCATATATATCATACATATCACATATATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ABR_chr17_998519_1184981	1118421	T T	TCCTCCCC others(372): Show TCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCATTATCCCTG AACCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCAT TATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCT CCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCC GAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAAC CCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCA GCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTC CCTCCCAGCGTTATTGCCTGAGCCTGAGTC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0317 a0001c0001t0004g0317	1	329	0.0030	379	c.246 others(396): Show c.246+6761_246+6762insGACTCAGGCTCAGGCAATAACGCTGGGA GGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAAC GCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCA GGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAAC TCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTG GGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGA TAATGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGG TTCAGGGATAATGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGGAG G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118421	T T	TCCTCCCC others(372): Show TCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTG AACCTGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGT TATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCT CCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCC GAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAAC CCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCA GCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTC CCTCCCAGCGTTATTGCCTGAGCCTGAGTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0307 a0001c0001t0007g0307	1	329	0.0030	379	c.246 others(396): Show c.246+6761_246+6762insGACTCAGGCTCAGGCAATAACGCTGGGA GGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAAC GCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCA GGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAAC TCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTG GGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGA TAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCAGG TTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGGAG G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar

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