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
ACAP3_chr1_1287391_1312930	1289773	CTCTGCTC others(192): Show CTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCC CCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03471.hp2 HG03453.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	2	293	0.0068	-199	c.35 others(11): Show c.3592_*3790del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2617		chr1	TogoVar
AMFR_chr16_56356452_56430545	56397894	ATAAATGT others(192): Show ATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAAT GTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCA TTTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATA ATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATAT	A A	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	354	0.0028	-199	c.108 others(19): Show c.1085+3640_1085+3838del	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56397910	TAATATAT others(192): Show TAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATAT ATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAAT GTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCA TTTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA20300.hp2 HG03139.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0159 a0001c0001t0004g0181 a0001c0001t0001g0159 a0001c0001t0004g0181	2	295	0.0068	-199	c.108 others(19): Show c.1085+3624_1085+3822del	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56397954	TAATATAT others(192): Show TAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATAT ATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAAT GTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCA TTTATAATATATAAATGTATCATTTATAATATATAACTCTATCATTTATA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01192.hp2 HG01358.hp2 others(27): Show HG00609.hp1 HG01192.hp2 HG01358.hp2 HG01496.hp1 HG01934.hp1 HG02004.hp2 HG02083.hp1 HG02155.hp2 HG02572.hp2 HG02735.hp2 HG02965.hp2 HG03209.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 NA18612.hp1 NA18942.hp1 NA18946.hp1 NA18949.hp2 NA18956.hp1 NA18966.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19060.hp1 NA19063.hp1 NA19078.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0021 a0001c0001t0039	a0001c0001t0001g0234 a0001c0001t0001g0283 a0001c0001t0001g0285 others(27): Show a0001c0001t0001g0234 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0003g0238 a0001c0001t0003g0264 a0001c0001t0003g0267 a0001c0001t0003g0314 a0001c0001t0006g0019 a0001c0001t0010g0306 a0001c0001t0015g0284 a0001c0001t0015g0291 a0001c0001t0015g0300 a0001c0001t0021g0340 a0001c0001t0021g0342 a0001c0001t0039g0233	30	346	0.0867	-199	c.108 others(19): Show c.1085+3580_1085+3778del	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
ANAPC10_chr4_144989576_145103196	145038821	CAAAAAAA others(192): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTAACTAAGGCAAAACCTA TAAGAAGCAGGCAACAAATTCAACAGATACTTCTGATGACGAGACATCAC TTTCTACAGAGAAAAATAGGTCACATGCAAAGCATCAGAAATCAAAAGTG GCATTGTATTTCTCAACATTTACAATAAAAACAATGTCTCAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	67	0.0149	-199	c.327 others(19): Show c.327+25552_327+25750del	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
AP3D1_chr19_2095988_2156566	2128585	GCCCCCGC others(192): Show GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGG AGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02559.hp2 HG01928.hp2 HG02559.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0002 a0001c0008t0002 a0001c0005t0002 a0001c0008t0002	a0001c0005t0002g0048 a0001c0008t0002g0182 a0001c0005t0002g0048 a0001c0008t0002g0182	2	277	0.0072	-199	c.806 others(15): Show c.806+306_806+504del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
C12orf50_chr12_87975035_88034401	88029312	TCTTAAAG others(192): Show TCTTAAAGACATTTAAATTAGAAGATACCTTCTCTAGCTTTGCAGAAACG CTGAAAGTGGTTGCTAGTAAGCACACAAACTCAAACTTCTAGAATTTTCC TCATTGTTACCTAATCCATTGTTTGCTCATCATAAATGACCTCACATGTA ACTGCAGGCCAATGTTCACTCAGGTAAACTACAGTTTACCTGAGTGAACA	T T	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0032	1	270	0.0037	-199	c.-28 others(12): Show c.-280_-109+27del	C12orf50	ENSG00000165805.10	transcript	ENST00000298699.7	protein_coding	1/13			chr12	TogoVar
CFAP46_chr10_132803392_132947570	132895891	TTCTGTGT others(192): Show TTCTGTGTGCCACATGAAGACACGGTGAGAAGGCAGCCAGGCTCTGTGTG CCATGAGACACGGCGAGAAGGCAGCTAGGCTCTGTGTGCCATGAGACACG GCGAGAAGGCAGCCAGGCTCTGTGTGCCACATGAAGACACGGTGAGAAGG CAGCCAGGCTCTGTGTGCCACATGAAGACATGGTGAGAAGGCAGCCAGGC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0065 a0065	a0065c0040 a0065c0040	a0065c0040t0001 a0065c0040t0001	a0065c0040t0001g0149 a0065c0040t0001g0149	1	221	0.0045	-199	c.321 others(19): Show c.3219+2869_3219+3067del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	24/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132896031	GGTGAGAA others(192): Show GGTGAGAAGGCAGCCAGGCTCTGTGTGCCACATGAAGACATGGTGAGAAG GCAGCCAGGCTCTGTGTGCCACATGAAGACATGGTGAGAAGGCAGCCAGG CTCTGTGTGCCACATGAAGACACGGTGAGAAGGCAGCCAGGCTCTGTGTG CCATGAGACACGGCGAGAAGGCAGCTAGGCTCTGTGTGCCATGAGACACA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0005 a0005	a0005c0047 a0005c0047	a0005c0047t0001 a0005c0047t0001	a0005c0047t0001g0150 a0005c0047t0001g0150	1	242	0.0041	-199	c.321 others(19): Show c.3219+2729_3219+2927del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	24/57			chr10	TogoVar
CHD5_chr1_6096787_6185321	6160236	GGCCCCAG others(192): Show GGCCCCAGCCAGAGAAGGAGAGCCCCAGCCAGGGAAGGGCCCCAGCCAGA GAAGAAGAACCCCAGCCAGGGAAGGGCCCCAGCCAGGGAAGGGCCCCAGC AAGGGAAGAGCCCCAGCCAGGGAAGGGCCCCAGCCAGAGAAGAAGAGCCC TAGCCAGGGAAGGGCCCCAGCCAGAGAAGGGCCCCAGCCAGAGAAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0276 a0001c0008t0006g0276	1	318	0.0031	-199	c.208 others(15): Show c.208-920_208-722del	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar
CLN8_chr8_1758789_1791570	1763445	GCCGCGCC others(192): Show GCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCC CGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCC CCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCC CCCGCCGCGCCCCGCCCCCCGCGCCGCGCCCCGCCCCCCGCCGCGCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG03490.hp2 others(2): Show HG00280.hp2 HG00597.hp1 HG03490.hp2 NA19087.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0079 a0001c0001t0003g0058 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0079 a0001c0001t0003g0058 a0001c0001t0004g0003 a0001c0001t0006g0068	5	410	0.0122	-199	c.-56 others(9): Show c.-563_-365del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		343		chr8	TogoVar
CNN2_chr19_1021608_1044065	1029275	CAGGCAGG others(192): Show CAGGCAGGTCCAGCTCAGGGGACCCTAACCCAAATCATCCCAGGCAGGTC CAGGTCAGGGGACCCTACCCAAATCATCCCAGGCAGGTCTAGCTCAGGGG ACCCTAACCCAAATCATCCCAGGCAGGTCCAGCTCAGGGGACCCTAACCC AAATCATCCCAGGCAGGTCCAGCTCAGGGGACCCTAACCCAAATCATCCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG01891.hp1 others(9): Show HG01109.hp2 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02976.hp2 HG03098.hp1 HG03471.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0008t0019	a0001c0001t0006g0018 a0001c0001t0006g0121 a0001c0001t0006g0123 others(7): Show a0001c0001t0006g0018 a0001c0001t0006g0121 a0001c0001t0006g0123 a0001c0001t0006g0124 a0001c0001t0006g0127 a0001c0001t0006g0128 a0001c0001t0006g0209 a0001c0001t0009g0126 a0001c0001t0010g0122 a0001c0008t0019g0125	12	388	0.0309	-199	c.64- others(15): Show c.64-1743_64-1545del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2W1_chr7_978181_994640	990045	GAGTGGCG others(192): Show GAGTGGCGCGTGTGCTGGGGGCGGTGTGGTCGGCAGTGTGAGTGGCGCGT GTGCTGGGGGCGGTGTGGTCGGCAGTGTGAGTGGCGCGTGTGCTGGGGGC GGTGTGGTCGGCAGTGTGAGTGGCGCGTGTGCTGGGGGCGGTGTGGTCGG CAGTGTGACAGTGGCGCGTGTGCTGGGGGTGGTGTGGTCGGCAGTGTGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	406	0.0025	-199	c.12 others(11): Show c.1224_*1422del	CYP2W1	ENSG00000073067.14	transcript	ENST00000308919.12	protein_coding		406		chr7	TogoVar
DNAH17_chr17_78418697_78582396	78447850	AGCAAGAC others(192): Show AGCAAGACCCTGTTTCTTTAAAAACATTTTAAAAAATTAGGGCCGGGTGC GGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTAGTGGA TCACCTAAGATCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCC CGTCTCAACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTG	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0141 a0141	a0141c0056 a0141c0056	a0141c0056t0001 a0141c0056t0001	a0141c0056t0001g0073 a0141c0056t0001g0073	1	250	0.0040	-199	c.112 others(21): Show c.11211+1365_11211+1563del	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	69/80			chr17	TogoVar
DSCAML1_chr11_117422772_117802216	117769353	TTATATAT others(192): Show TTATATATTTTATATAATATATATTTTATATATTATATATATTTTTATAT AATATATATTTTATATATATTATATATATTTTTATATAATATATATTTTA TATATATAATATATATTTTATATATATAATATATATTTTATATATATAAT ATATATTTTATATATATTATATATATTTTATATATATTATATATTTTATA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0041 a0002c0006t0002g0041	1	194	0.0052	-199	c.511 others(17): Show c.511+7239_511+7437del	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DYM_chr18_49031387_49465645	49440985	ATAATATA others(192): Show ATAATATATAATATATTTATATATTATATATTATATATATTTATATATAA TATATAAATATATAATATATTTATATATATTATATATAAATATTATATTA TATATTATATATAAATATATATTAATATAAATATATTATATATTTATATA AATATATTATATAATATAATATATATTATATATTATATAATTATATATTT	A A	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0060 a0006c0009t0002g0060	1	228	0.0044	-199	c.-53 others(19): Show c.-53-10737_-53-10539del	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EXD3_chr9_137301896_137428162	137328661	ACTACACG others(192): Show ACTACACGGGACTACACGGGGCTACACGGGACTACACAGGGTCACACGGG ACTACACGGGACTACACGGGACTACACGGGGCTACACGGGACTACACGGG ACTACACGGGGCTACACGGGACTACACGGGACTACACGGGGCTACACGGG ACTACACAGGGTCACACGGGACTACACGGGACTACACGGGGCTACACGGG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	41	0.0244	-199	c.199 others(19): Show c.1999-4717_1999-4519del	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FNDC11_chr20_63549159_63561695	63559477	AGGAGTCA others(192): Show AGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTCAG AGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGG GAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTCA GAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 NA18990.hp2 HG00738.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0001t0001g0001 a0001c0002t0001g0002	2	413	0.0048	-199	c.28 others(11): Show c.2858_*3056del	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding		2783		chr20	TogoVar
GAL3ST2_chr2_241771822_241809287	241807689	ACCCTCCC others(192): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0109 a0002c0002t0002g0109	1	298	0.0034	-199	c.35 others(11): Show c.3524_*3722del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3403		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807876	TGCAGGCC others(192): Show TGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTTAGCCCAGGGACCTCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0019 a0003c0003t0001g0019	1	191	0.0052	-199	c.37 others(11): Show c.3711_*3909del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3590		chr2	TogoVar
HELZ2_chr20_63553086_63579239	63559477	AGGAGTCA others(192): Show AGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTCAG AGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGG GAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTCA GAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18990.hp2 HG00738.hp1 NA18990.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0022 a0006c0007t0005 a0002c0002t0022 a0006c0007t0005	a0002c0002t0022g0036 a0006c0007t0005g0318 a0002c0002t0022g0036 a0006c0007t0005g0318	2	387	0.0052	-199	c.782 others(17): Show c.7825+252_7826-108del	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19			chr20	TogoVar
KCNIP4_chr4_20723606_21953772	21150271	TGGGAGTG others(192): Show TGGGAGTGTTAATGAGGGTAATGCTTGGCTCCATTTGTCATCTGGATACA CTGTACCAATGGCTGAGAGGGAGGCAGGACTGAGGCAGAGAGGCCAGTTA GGAAAGCAAGTATGTTGGGTCACTTGCAAAGCCACCATTGATTCTGATGT TCTGGGATGGCTCCCCTGACTGTGATCTCAGTTCACCTGGTTCCAACCTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG02615.hp2 others(1): Show HG01243.hp2 HG02145.hp2 HG02615.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0004	a0001c0001t0001g0017 a0001c0001t0003g0030 a0001c0001t0004g0026 others(1): Show a0001c0001t0001g0017 a0001c0001t0003g0030 a0001c0001t0004g0026 a0001c0002t0004g0071	4	80	0.0500	-199	c.62- others(19): Show c.62-267761_62-267563del	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KIF25_chr6_167992671_168050091	167997264	GCGGGGGA others(192): Show GCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGGTGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0066 a0001c0001t0007g0066	1	296	0.0034	-199	c.-22 others(11): Show c.-2204_-2006del	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		406		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997309	TGGGGGCG others(192): Show TGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGG GGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGG GGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0062 a0001c0003t0009g0062	1	352	0.0028	-199	c.-21 others(11): Show c.-2159_-1961del	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		361		chr6	TogoVar
LAMA2_chr6_128878138_129521566	129286677	ATATATTA others(192): Show ATATATTATATTTATATAATATATATAATAATATATAATATATTATATAA TATATTATATAATATATAATAATATATAATATATTATATAATATATAATA ATATATAATATATTATATAATATATAATAATATATAATATATTATATAAT ATATAATAATATATAATATATTATATAATATATAATAATATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG03041.hp2 others(2): Show HG02572.hp2 HG02809.hp2 HG03041.hp2 HG03130.hp2 NA18906.hp2	a0003 a0004 a0013 others(2): Show a0003 a0004 a0013 a0025 a0028	a0003c0044 a0004c0002 a0013c0022 others(2): Show a0003c0044 a0004c0002 a0013c0022 a0025c0057 a0028c0021	a0003c0044t0003 a0004c0002t0002 a0013c0022t0003 others(2): Show a0003c0044t0003 a0004c0002t0002 a0013c0022t0003 a0025c0057t0003 a0028c0021t0005	a0003c0044t0003g0020 a0004c0002t0002g0083 a0013c0022t0003g0019 others(2): Show a0003c0044t0003g0020 a0004c0002t0002g0083 a0013c0022t0003g0019 a0025c0057t0003g0042 a0028c0021t0005g0016	5	86	0.0581	-199	c.253 others(18): Show c.2538-1164_2538-966del	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	18/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
MBD3L3_chr19_7051207_7063676	7053614	ATAATATA others(192): Show ATAATATAATTTATATGTTATATAATTATATTATATATTATAATATAATT TATATATTATATACTTACATATATTATATATTAAAATATAATTTATATAT TATGTAATTATATATTATATATTATAATTATATTTATATATCATATTTAT ATAATTATATAATATAATTGTATAATATATACTATATAGGTATATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	-199	c.25 others(11): Show c.2509_*2707del	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2592		chr19	TogoVar
MBTPS1_chr16_84048763_84121942	84050651	CCCGCATG others(192): Show CCCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGC TGCAAGGCCCCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATGTGCGTAA GGACAGCTGCAAGACCCCCATGTGGGTAAGGAGAGCGGCAAGGCCCCATG TGGGTAAGGAGAGCAGCAAGGCCCGCATGTGGGTAAGGAGAGCTGCAAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00673.hp2 others(73): Show HG00558.hp2 HG00597.hp1 HG00673.hp2 HG01074.hp1 HG01175.hp2 HG01358.hp2 HG01928.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03669.hp2 HG03688.hp1 NA18522.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18947.hp1 NA18950.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18968.hp2 NA18970.hp2 NA18977.hp2 NA18981.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp2 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0011	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0003c0010 a0009c0018 a0011c0019	a0001c0001t0002 a0001c0001t0030 a0001c0002t0002 others(11): Show a0001c0001t0002 a0001c0001t0030 a0001c0002t0002 a0001c0002t0015 a0001c0004t0002 a0001c0004t0014 a0001c0004t0019 a0001c0004t0029 a0001c0005t0002 a0001c0006t0002 a0001c0006t0017 a0003c0010t0002 a0009c0018t0002 a0011c0019t0002	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0102 others(68): Show a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0002g0199 a0001c0001t0002g0204 a0001c0001t0030g0191 a0001c0002t0002g0111 a0001c0002t0002g0123 a0001c0002t0015g0247 a0001c0002t0015g0248 a0001c0004t0002g0004 a0001c0004t0002g0028 a0001c0004t0002g0043 a0001c0004t0002g0044 a0001c0004t0002g0055 a0001c0004t0002g0056 a0001c0004t0002g0126 a0001c0004t0002g0127 a0001c0004t0002g0128 a0001c0004t0002g0129 a0001c0004t0002g0131 a0001c0004t0002g0134 a0001c0004t0002g0136 a0001c0004t0002g0140 a0001c0004t0002g0141 a0001c0004t0002g0142 a0001c0004t0002g0145 a0001c0004t0002g0146 a0001c0004t0002g0155 a0001c0004t0002g0156 a0001c0004t0002g0157 a0001c0004t0002g0195 a0001c0004t0014g0308 a0001c0004t0019g0133 a0001c0004t0019g0137 a0001c0004t0029g0147 a0001c0005t0002g0005 a0001c0005t0002g0105 a0001c0005t0002g0121 a0001c0006t0002g0034 a0001c0006t0017g0375 a0001c0006t0017g0376 a0001c0006t0017g0379 a0003c0010t0002g0170 a0009c0018t0002g0114 a0011c0019t0002g0122	76	407	0.1867	-199	c.35 others(11): Show c.3599_*3797del	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		3111		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84050710	CCATGTGG others(192): Show CCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATGTGCGTAAGGACAGCTG CAAGACCCCCATGTGGGTAAGGAGAGCGGCAAGGCCCCATGTGGGTAAGG AGAGCAGCAAGGCCCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTG GGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	415	0.0024	-199	c.35 others(11): Show c.3540_*3738del	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		3052		chr16	TogoVar
NEU4_chr2_241804193_241822413	241807253	ACCTTCCC others(192): Show ACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGG AAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0024 a0001c0004t0001g0024	1	301	0.0033	-199	c.-20 others(11): Show c.-2024_-1826del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1939		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807861	CAGCCCAG others(192): Show CAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCA GGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	315	0.0032	-199	c.-14 others(11): Show c.-1416_-1218del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1331		chr2	TogoVar
OTUD7A_chr15_31470398_31875673	31511139	CATACATA others(192): Show CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CACACATATGTATATCTATATGTAACACACATACATATGTATATCTATAT GTAACACACATACATATGTATATCTATATGTAACACACATACATATGTAT ATCTATATGTAACACACATATATATGTATATCTATATGTAACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0019 a0001c0009t0019	a0001c0009t0019g0075 a0001c0009t0019g0075	1	244	0.0041	-199	c.894 others(17): Show c.894-7520_894-7322del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PLXDC2_chr10_19811432_20294856	20126618	ACACGTTA others(192): Show ACACGTTATATATGTATATATAACACACACGTTATATATGTATATATAAC ACACGTTATATATGTATATATAACACACGTTATATATGTATATATAACAC ACACGTTATATATGTATATAGAACACACACGTTATATATGTATATAGAAC ACACATGTTATATATGTATATAGAACACACGTTATATATGTATATATAAC	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02055.hp2 HG01975.hp1 HG02055.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0041 a0004c0004t0076 a0004c0004t0041 a0004c0004t0076	a0004c0004t0041g0007 a0004c0004t0076g0129 a0004c0004t0041g0007 a0004c0004t0076g0129	2	178	0.0112	-199	c.542 others(19): Show c.542-16676_542-16478del	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13			chr10	TogoVar
PRDM15_chr21_41793225_41884344	41855900	TCCTTCCT others(192): Show TCCTTCCTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCCTTCC CTCCCTCCCTCCCTCCCTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCCTC CCTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCCTCCCTTCCTTCCTTTCC TTCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTCCCTCCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02735.hp1 HG00642.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0013 a0001c0004t0003 a0001c0001t0013 a0001c0004t0003	a0001c0001t0013g0156 a0001c0004t0003g0244 a0001c0001t0013g0156 a0001c0004t0003g0244	2	404	0.0050	-199	c.285 others(17): Show c.285+1077_286-1083del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41855916	CTCCCTCC others(192): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCCTCCCTTCCTTCCTTTCCT TCCCTCCCTCCCTCCCCTCCCTTCCTTCCTTTCCTTCCTTCCCTCCCTCC CCTCCCTCCCTTCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00642.hp1 others(52): Show HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01074.hp1 HG01175.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG03017.hp2 HG03098.hp2 HG03490.hp1 HG03927.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp2 NA18944.hp1 NA18947.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19062.hp1 NA19064.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0014 a0001c0020 a0001c0025 a0001c0028 a0002c0007 a0002c0015 a0004c0041 a0004c0042	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(19): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0002t0002 a0001c0003t0001 a0001c0004t0003 a0001c0005t0002 a0001c0005t0007 a0001c0005t0046 a0001c0008t0001 a0001c0009t0008 a0001c0014t0003 a0001c0020t0004 a0001c0025t0018 a0001c0028t0041 a0002c0007t0005 a0002c0007t0045 a0002c0015t0005 a0004c0041t0001 a0004c0042t0008	a0001c0001t0002g0134 a0001c0001t0002g0213 a0001c0001t0009g0113 others(50): Show a0001c0001t0002g0134 a0001c0001t0002g0213 a0001c0001t0009g0113 a0001c0001t0010g0274 a0001c0001t0011g0225 a0001c0001t0011g0226 a0001c0001t0011g0227 a0001c0001t0011g0229 a0001c0001t0011g0253 a0001c0001t0011g0254 a0001c0001t0011g0268 a0001c0001t0014g0158 a0001c0002t0002g0006 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0318 a0001c0002t0002g0320 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0365 a0001c0002t0002g0368 a0001c0002t0002g0378 a0001c0002t0002g0379 a0001c0002t0002g0380 a0001c0003t0001g0002 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0307 a0001c0004t0003g0132 a0001c0005t0002g0145 a0001c0005t0007g0137 a0001c0005t0046g0024 a0001c0008t0001g0146 a0001c0008t0001g0267 a0001c0009t0008g0297 a0001c0014t0003g0317 a0001c0020t0004g0359 a0001c0025t0018g0168 a0001c0028t0041g0362 a0002c0007t0005g0133 a0002c0007t0005g0135 a0002c0007t0005g0136 a0002c0007t0005g0143 a0002c0007t0005g0300 a0002c0007t0045g0140 a0002c0015t0005g0184 a0002c0015t0005g0303 a0002c0015t0005g0395 a0002c0015t0005g0396 a0004c0041t0001g0167 a0004c0042t0008g0166	55	277	0.1986	-199	c.285 others(17): Show c.285+1061_286-1099del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
PRKG1_chr10_51069487_52303350	51858125	ATTATATA others(192): Show ATTATATATATACATATTATACATATATATAATATATATTATATATATAC ATATTATACATATATATAATATATATTATATATATACATATTATACATAT ATATAATATATATTATATATAATACATATTATACATATATATAATATTAT ACATATGTATAATTATACATATGTATAATATATATATGTATAATATGTAT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0021 a0001c0002t0004g0021	1	64	0.0156	-199	c.699 others(19): Show c.699-49380_699-49182del	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTEN_chr10_87858625_87976930	87976253	TTCTTTGA others(192): Show TTCTTTGAATAGATCTTTTACCCCGGCCTGATTTTGTGACATCATCGATG AGTCATTTGGAAAATACAGGTTCACTGAGTTTTGTAGATTTTCCAGTGTT GACACATTTCATTATGCAATGCAGAAAAACAAATCACATTTAAAAAAATA TCACAACACTTTTTTAGAGCTGACAAGAATAGTCTTTAAATATTTGGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0107 a0001c0001t0026g0107	1	320	0.0031	-199	c.10 others(13): Show c.10782_*10980del	PTEN	ENSG00000171862.15	transcript	ENST00000371953.8	protein_coding		4324		chr10	TogoVar
RASA3_chr13_113972783_114137623	114019791	TCAGGTGG others(192): Show TCAGGTGGGTGGAGCCTGTGTCCGAGGCATTAGCAGCCCTGTCAGGTGGG TGGAGCCTGTGTCCGAGGCATTAGCCCCCCTCAGGTGGGTGGAGCCTGTG TCCGAGGCATTAGCAGCCCTGTCAGGTGGGTGGAGCCTGTGTCCGAGGCA TTAGCCCCCGCCAGGTGGGTGGAGCCTGTGTCCGAGGCATTAGCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01993.hp2 HG02300.hp1 others(3): Show HG01433.hp2 HG01993.hp2 HG02300.hp1 HG04228.hp1 NA18954.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0003t0003 a0001c0001t0001 a0001c0001t0006 a0001c0003t0003	a0001c0001t0001g0042 a0001c0001t0006g0012 a0001c0001t0006g0013 others(3): Show a0001c0001t0001g0042 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0030	6	66	0.0909	-199	c.786 others(16): Show c.786-1071_786-873del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	9/23			chr13	TogoVar
SCHIP1_chr3_159268244_159902359	159711196	TAAGAAAT others(192): Show TAAGAAATTTAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp2 HG01167.hp2 others(57): Show HG00438.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG02027.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19058.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(57): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0005g0080 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0048 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0076 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0002g0047 a0001c0002t0003g0083 a0001c0004t0001g0018 a0002c0003t0001g0034 a0002c0003t0001g0091	60	100	0.6000	-199	c.64- others(17): Show c.64-53231_64-53033del	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1289773	CTCTGCTC others(192): Show CTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCC CCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	287	0.0035	-199	c.166 others(17): Show c.1663-484_1663-286del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SIGIRR_chr11_400716_419999	401251	TTCACACC others(192): Show TTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACACCC GGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACACCCGGCCCCGCTCACACCCGGCCCGCTCACACCCGCCCCGC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	34	0.0294	-199	c.44 others(11): Show c.4447_*4645del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4465		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1072647	CAGCCCCC others(192): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCC CCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0005 a0001c0003t0003g0005	1	108	0.0093	-199	c.224 others(17): Show c.2241+787_2241+985del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SNX8_chr7_2246770_2319441	2278953	CGCCGGAC others(192): Show CGCCGGACTCACTCACACTACGGAGTCGACGCCGGACTCACACTACGGAG TCGACGCCGGACTCACTCACACTACGGAGTCGAAGCCGGACTCACTCACA CTACGGAGTCGACGCCGGACTCACTCACACTACGGAGTCGAAGCCGGACT CACTCACACTACGGAGTCGACGCCGGACTCACTCACACTACGGAGTCGAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA20752.hp1 HG01496.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0193 a0001c0001t0001g0075 a0001c0001t0001g0193	2	364	0.0055	-199	c.95- others(13): Show c.95-847_95-649del	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10			chr7	TogoVar
SOX11_chr2_5687384_5706385	5706076	AGGAGGCT others(192): Show AGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGG CTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGACTGGGG TAGAGGAACAGGTAGGCTGGGGTGGAGGAGCTGGGAGGCCAGGGTGGAGG AGTTGAGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	413	0.0024	-199	c.12 others(13): Show c.12030_*12228del	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4692		chr2	TogoVar
ST3GAL3_chr1_43702536_43936159	43904790	CTCCCCCT others(192): Show CTCCCCCTCCTCCTGTTCCTCTTCCTGCCACTCTTTCCCCTCCTCCTGCT CCTATTCCTGCCACTCTTCCTCCTCCTCCTCCTGCTCCTCTTCCCGCCAC TCTTCCTCCCCCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCCCTTC CTCCTTTCTGCCACTCTTCCTCCCCTTCCTGCTCCTCTTCCCACCACTCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp2 others(17): Show HG00408.hp1 HG00438.hp2 HG00558.hp2 HG01243.hp1 HG02074.hp1 HG02080.hp2 HG03704.hp2 NA18942.hp1 NA18951.hp1 NA18954.hp2 NA18973.hp1 NA18982.hp1 NA18990.hp2 NA18998.hp2 NA18999.hp2 NA19005.hp2 NA19062.hp2 NA19074.hp2 NA19085.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009	a0001c0001t0004g0014 a0001c0001t0004g0020 a0001c0001t0004g0024 others(17): Show a0001c0001t0004g0014 a0001c0001t0004g0020 a0001c0001t0004g0024 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0033 a0001c0001t0004g0038 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0007g0063 a0001c0001t0009g0037	20	272	0.0735	-199	c.744 others(17): Show c.744+5078_744+5276del	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
TENM2_chr5_166974029_168269157	167974027	GGAAGGAA others(192): Show GGAAGGAAGGAGAAGGAAGGAAGGGAGGAAAGGAGGGAGGGAGGGAGGAA GGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGAAGGAAG GAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGGAGG GAGGAAGGAAGGAAGGAAGGGAGAAAGGGAGGGAGGGAGGGAGGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0050 a0001c0031t0001g0050	1	53	0.0189	-199	c.948 others(19): Show c.948-18915_948-18717del	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167974031	GGAAGGAG others(192): Show GGAAGGAGAAGGAAGGAAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAA GGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGAAGGAAGGAAG GAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGGAGGGAGG AAGGAAGGAAGGAAGGGAGAAAGGGAGGGAGGGAGGGAGGGAGGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02897.hp1 HG01081.hp1 HG02897.hp1	a0001 a0007 a0001 a0007	a0001c0007 a0007c0036 a0001c0007 a0007c0036	a0001c0007t0010 a0007c0036t0004 a0001c0007t0010 a0007c0036t0004	a0001c0007t0010g0037 a0007c0036t0004g0017 a0001c0007t0010g0037 a0007c0036t0004g0017	2	53	0.0377	-199	c.948 others(19): Show c.948-18911_948-18713del	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
THOP1_chr19_2780503_2820807	2818350	CAAGGGTG others(192): Show CAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAG CAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAG GTCAGAGCAGGTGACAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGAT GACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02015.hp1 HG02132.hp2 others(23): Show HG01109.hp2 HG02015.hp1 HG02132.hp2 HG02572.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03540.hp2 NA18906.hp1 NA18941.hp1 NA18948.hp1 NA18949.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18984.hp1 NA18988.hp2 NA18999.hp1 NA19004.hp2 NA19058.hp1 NA19064.hp1 NA19065.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0019 a0001c0001t0021	a0001c0001t0001g0159 a0001c0001t0002g0005 a0001c0001t0002g0012 others(14): Show a0001c0001t0001g0159 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0141 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0168 a0001c0001t0005g0006 a0001c0001t0007g0005 a0001c0001t0019g0163 a0001c0001t0021g0039	26	368	0.0707	-199	c.50 others(11): Show c.5075_*5273del	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		2544		chr19	TogoVar
TMEM178B_chr7_141069064_141485380	141086029	ATTAATAT others(192): Show ATTAATATTAATTATTATTATTTTTTGAGACCGAGTCTTACTCTGTCGCT CAGGCTGGAGTGCAGTGGTGTGATCTTGCTCACTGCAACCTCCATCTCCT GGGTTCAGATGATTCTTGTGCCTCAGCCTGCTGAGTAGCTGGGACTACAG GCGCCTGCCACCACTGCTGGCTAATTTTTATACAGCAGGGATGGGGTTTC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0019 a0001c0001t0011g0019	1	80	0.0125	-199	c.382 others(19): Show c.382+11338_382+11536del	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	1/3			chr7	TogoVar
TWIST2_chr2_238843085_238915534	238903849	NNNNNNNN others(192): Show NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(222): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0231 a0001c0001t0002g0257 a0001c0001t0002g0292 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0003g0008 a0001c0001t0004g0302	228	292	0.7808	-199	c.36 others(221): Show c.36-5993_*36-5794delNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNTinsG	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
VAV2_chr9_133756894_133997324	133827245	CTGAGCGG others(192): Show CTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACT GAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGA GCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0011 a0001c0007t0011	a0001c0007t0011g0120 a0001c0007t0011g0120	1	130	0.0077	-199	c.449 others(17): Show c.449+6828_449+7026del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar

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