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
B3GNTL1_chr17_82937149_83056770	83004073	TGCAGTCC others(72): Show TGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGT GGGATTCCTGAGCTCGCCCTCCCACTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03516.hp2 HG02486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0039 a0001c0001t0002 a0001c0001t0039	a0001c0001t0002g0133 a0001c0001t0039g0260 a0001c0001t0002g0133 a0001c0001t0039g0260	2	266	0.0075	-79	c.459 others(95): Show c.459+963_459+1041delGGAGAGTGGGAGGGCGAGCTCAGGAATCC CACACGCGGAGGGCGGGAGGGCGGGCTCAGGAATCCCACACGCGGACTGC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	512204	TCCACCTT others(72): Show TCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTC CACCTTCTTCCACCTTCTTCCACCTTCCAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01243.hp2 HG02922.hp2 others(3): Show HG01106.hp2 HG01243.hp2 HG02922.hp2 HG02970.hp1 HG03195.hp1 HG03471.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0007	a0001c0002 a0002c0003 a0005c0006 others(2): Show a0001c0002 a0002c0003 a0005c0006 a0006c0007 a0007c0008	a0001c0002t0081 a0001c0002t0094 a0002c0003t0050 others(3): Show a0001c0002t0081 a0001c0002t0094 a0002c0003t0050 a0005c0006t0007 a0006c0007t0039 a0007c0008t0007	a0001c0002t0081g0279 a0001c0002t0094g0141 a0002c0003t0050g0278 others(3): Show a0001c0002t0081g0279 a0001c0002t0094g0141 a0002c0003t0050g0278 a0005c0006t0007g0146 a0006c0007t0039g0301 a0007c0008t0007g0287	6	394	0.0152	-79	c.170 others(98): Show c.170-22960_170-22882delCACCTTCCACCTTCCACCTTCTTCCA CCTTCCACCTTCCACCTTCTTCCACCTTCTTCCACCTTCTTCCACCTTCC ACC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BAD_chr11_64264830_64289665	64270898	GAGACACA others(72): Show GAGACACACACACACACACACACACACACACACACGCCTGGAGTGGGATC TAGACTACAGATCCCAGCATGCCCTGTGAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01070.hp2 others(20): Show HG00099.hp2 HG00323.hp1 HG01070.hp2 HG01071.hp2 HG01175.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG02293.hp1 HG02698.hp2 HG02735.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03942.hp1 HG04228.hp2 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0076 a0001c0001t0001g0112 others(19): Show a0001c0001t0001g0025 a0001c0001t0001g0076 a0001c0001t0001g0112 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0346	23	388	0.0593	-79	c.378 others(94): Show c.378+636_379-562delGTCACAGGGCATGCTGGGATCTGTAGTCTA GATCCCACTCCAGGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCT	BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	3/3			chr11	TogoVar
BCL9_chr1_147536501_147631216	147541110	AGAGAGAG others(72): Show AGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGTGTGTGTGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0265 a0001c0001t0016g0265	1	316	0.0032	-79	c.-10 others(89): Show c.-1041_-963delGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGT	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		390		chr1	TogoVar
BDH1_chr3_197504783_197560968	197510605	TGTGTGTG others(72): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTACATGTGTGTAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0152 a0001c0001t0152	a0001c0001t0152g0183 a0001c0001t0152g0183	1	319	0.0031	-79	c.12 others(90): Show c.1211_*1289delCTTACACACATGTACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1211		chr3	TogoVar
BMPR1A_chr10_86751619_86932969	86805900	TTTTTTTT others(72): Show TTTTTTTTTTTTTTAAAGCATTTTTCCCTTCCAGTGGAGGATTCAATCTG GAGTCACATATTGCATTTGGTTGTCCTGCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02970.hp1 NA19240.hp1 HG01243.hp1 HG02970.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0033 a0001c0003t0031 a0001c0003t0033	a0001c0003t0031g0018 a0001c0003t0031g0020 a0001c0003t0033g0019 a0001c0003t0031g0018 a0001c0003t0031g0020 a0001c0003t0033g0019	3	278	0.0108	-79	c.-26 others(100): Show c.-267-32963_-267-32885delTTTTTTTTTTTTAAAGCATTTTTC CCTTCCAGTGGAGGATTCAATCTGGAGTCACATATTGCATTTGGTTGTCC TGCCT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD2_chr19_1980448_2020714	1992068	GAGAAACC others(72): Show GAGAAACCCCGTCTCAAAAAAAAATTATTTTACTTTTTTTTTAGAGACAG GGTCTCACTCTGTCACTCAGGCTGGAGTGC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01361.hp2 others(6): Show HG01070.hp1 HG01071.hp2 HG01361.hp2 HG02602.hp2 HG02738.hp1 HG03492.hp1 HG03688.hp2 HG04204.hp1 HG04228.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0005 a0003c0004 a0001c0003 a0002c0005 a0003c0004	a0001c0003t0001 a0002c0005t0001 a0003c0004t0001 others(1): Show a0001c0003t0001 a0002c0005t0001 a0003c0004t0001 a0003c0004t0017	a0001c0003t0001g0274 a0001c0003t0001g0324 a0001c0003t0001g0325 others(6): Show a0001c0003t0001g0274 a0001c0003t0001g0324 a0001c0003t0001g0325 a0002c0005t0001g0051 a0003c0004t0001g0190 a0003c0004t0001g0191 a0003c0004t0001g0192 a0003c0004t0001g0193 a0003c0004t0017g0137	9	364	0.0247	-79	c.684 others(94): Show c.684+873_684+951delGCACTCCAGCCTGAGTGACAGAGTGAGACC CTGTCTCTAAAAAAAAAGTAAAATAATTTTTTTTTGAGACGGGGTTTCT	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	3/8			chr19	TogoVar
C1R_chr12_7075219_7097445	7084854	ATGGTGTT others(72): Show ATGGTGTTGGTAATGGTGGTAGTGATCATGGTAGTGGTGACAGTGGTGTT GGTAACAGTATAGTGATGATGGAAGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02451.hp2 others(8): Show HG02055.hp1 HG02055.hp2 HG02451.hp2 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0001 a0001c0001t0001 a0001c0016t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0034 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0128 a0001c0016t0001g0048	11	320	0.0344	-79	c.127 others(97): Show c.1273+928_1273+1006delCACCACTTCCATCATCACTATACTGTT ACCAACACCACTGTCACCACTACCATGATCACTACCACCATTACCAACAC CA	C1R	ENSG00000159403.18	transcript	ENST00000647956.2	protein_coding	9/10			chr12	TogoVar
C4A_chr6_31977057_32007681	31978760	TATTTTCT others(72): Show TATTTTCTCACACAGTTTTTCCTTTACTAAGAGAAAATGCCCCCATATTG GCAAACAAAATCTCCCTGCCTGAGAGCGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	322	0.0031	-79	c.-33 others(90): Show c.-3347_-3269delATTTTCTCACACAGTTTTTCCTTTACTAAGAGAA AATGCCCCCATATTGGCAAACAAAATCTCCCTGCCTGAGAGCGCC	C4A	ENSG00000244731.10	transcript	ENST00000428956.7	protein_coding		3296		chr6	TogoVar
CACNG7_chr19_53904278_53948950	53920038	GCTGGTCA others(72): Show GCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCC AGGCTGGTCATTGGTGGAGTTGCCCCAGGC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03471.hp2 HG02717.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	364	0.0055	-79	c.424 others(96): Show c.424+4560_424+4638delCTGGTCATTGGTGGAGTTGCCCCAGGCT GGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGACTTGCCCCAG G	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53920651	GGCTGGTC others(72): Show GGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGACTTGCT CCAGGTCTGGTCATTGGTGGAGCTGTCCCA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02717.hp1 others(1): Show HG01243.hp2 HG01891.hp2 HG02717.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0018	4	364	0.0110	-79	c.424 others(96): Show c.424+5148_424+5226delCTGGTCATTGGTGGAGTTGCCCCAGGTC TGGTCATTGGTGGACTTGCTCCAGGTCTGGTCATTGGTGGAGCTGTCCCA G	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53921138	CATTGGTG others(72): Show CATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGACTTGCCCCAGGCTG GTCATTGGTGGAGTTGTCCCCAGGCCTGGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02717.hp1 NA18954.hp2 others(1): Show HG01243.hp2 HG02717.hp1 NA18954.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0105 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0105 a0001c0001t0001g0179	4	364	0.0110	-79	c.424 others(96): Show c.424+5654_424+5732delCTGGTCATTGGTGGACTTGCCCCAGGCT GGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAG G	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53925025	CCTAGGGC others(72): Show CCTAGGGCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGAG TTGCCCCAGGTCTGGTCATTGGTGGACTTG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	364	0.0028	-79	c.424 others(96): Show c.424+9522_424+9600delTAGGGCTGGTCATTGGTGGACTTGCCCC AGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGACTTG C	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMKK1_chr17_3855315_3898053	3868213	TGGGGGAG others(72): Show TGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAGAA GCAGGCGCCGTCTAACTGATACGTGGGCAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03710.hp2 HG00408.hp2 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0027 a0002c0001t0002 a0001c0002t0027 a0002c0001t0002	a0001c0002t0027g0409 a0002c0001t0002g0173 a0001c0002t0027g0409 a0002c0001t0002g0173	2	446	0.0045	-79	c.134 others(98): Show c.1341+1195_1341+1273delGTGCCCACGTATCAGTTAGACGGCGC CTGCTTCTCCCCCAGAGCCCACGTATCAGTTAGACGGCGCCTGCTTCTCC CCC	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868222	AGCAGGCG others(72): Show AGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCC GTCTAACTGATACGTGGGCACGGGGGAGAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0358 a0001c0002t0001g0358	1	446	0.0022	-79	c.134 others(98): Show c.1341+1186_1341+1264delATCTCCCCCGTGCCCACGTATCAGTT AGACGGCGCCTGCTTCTCCCCCAGAGCCCACGTATCAGTTAGACGGCGCC TGC	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868229	GCCGTCTA others(72): Show GCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAAC TGATACGTGGGCACGGGGGAGATGCAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03834.hp2 HG02818.hp1 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0052 a0002c0001t0061 a0001c0002t0052 a0002c0001t0061	a0001c0002t0052g0183 a0002c0001t0061g0416 a0001c0002t0052g0183 a0002c0001t0061g0416	2	446	0.0045	-79	c.134 others(98): Show c.1341+1179_1341+1257delTGCCTGCATCTCCCCCGTGCCCACGT ATCAGTTAGACGGCGCCTGCTTCTCCCCCAGAGCCCACGTATCAGTTAGA CGG	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868370	GCTGGGGG others(72): Show GCTGGGGGAGACGCAGGCCCATCTAACTGATATGTGGGCTCTGGGGGAGA CACAGGTGCTGCCTAACTGATACGTGGGCT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0316 a0001c0002t0010g0316	1	446	0.0022	-79	c.134 others(98): Show c.1341+1038_1341+1116delAGCCCACGTATCAGTTAGGCAGCACC TGTGTCTCCCCCAGAGCCCACATATCAGTTAGATGGGCCTGCGTCTCCCC CAG	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKMT_chr2_44356947_44777592	44437454	AGTAGTTG others(72): Show AGTAGTTGAAAACGTTTTTTATTTAATTCCTTTATGTCCATGTTTTTCTG ATTTCTTTGTTTTTCTTCAAGCCATAAGCC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02630.hp1 HG02647.hp2 others(9): Show HG01099.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03516.hp1 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0103 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0103 a0001c0001t0001g0198 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0003g0102 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0012	12	198	0.0606	-79	c.376 others(98): Show c.376+47152_376+47230delAGTTGAAAACGTTTTTTATTTAATTC CTTTATGTCCATGTTTTTCTGATTTCTTTGTTTTTCTTCAAGCCATAAGC CGT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAPN12_chr19_38725192_38749474	38733263	TTTTAGAG others(72): Show TTTTAGAGAGGAAAATGGAGGCTCAAAGAGATGAAGTCAAGTGCCCAGGG CCCCTCCTGGAGTCAGTAGAGTGAGGATTC	T T	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0033 a0003c0005t0004g0033	1	342	0.0029	-79	c.195 others(96): Show c.1957+361_1957+439delGAATCCTCACTCTACTGACTCCAGGAGG GGCCCTGGGCACTTGACTTCATCTCTTTGAGCCTCCATTTTCCTCTCTAA A	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	18/20			chr19	TogoVar
CBFA2T3_chr16_88869858_88982207	88889708	CCGCGATT others(72): Show CCGCGATTCCTCCTCCTCCAGGGACACTTCAAATCCCTGGACGACGCCCC GCGATTCCTCCTCCTCCAGGGACGACGCCA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01255.hp2 HG01496.hp1 others(3): Show HG01074.hp2 HG01255.hp2 HG01496.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0171 others(3): Show a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0224	6	284	0.0211	-79	c.711 others(96): Show c.711+2095_711+2173delTGGCGTCGTCCCTGGAGGAGGAGGAATC GCGGGGCGTCGTCCAGGGATTTGAAGTGTCCCTGGAGGAGGAGGAATCGC G	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC77_chr12_396644_447642	434969	TTTTCATC others(72): Show TTTTCATCTAGTTTCATGGTATCACATGTATTCCGTTTCCAAATGCTCCC ATCCCCGTCTCAAGCCTACTTCTTTCTGTG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02257.hp2 HG01167.hp1 HG02257.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0402 a0004c0004t0001g0096 a0002c0002t0001g0402 a0004c0004t0001g0096	2	432	0.0046	-79	c.821 others(96): Show c.821+1726_821+1804delGTTTCATCTAGTTTCATGGTATCACATG TATTCCGTTTCCAAATGCTCCCATCCCCGTCTCAAGCCTACTTCTTTCTG T	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	435048	GTTTCATC others(72): Show GTTTCATCTAGTTTCATGGTATCACATGTATTCCGTTTCCAAATGCTCCC ATCCCCGTCTCAAGCCTACTTCTTTCTGTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(179): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0009	a0001c0001 a0002c0002 a0002c0009 others(5): Show a0001c0001 a0002c0002 a0002c0009 a0003c0003 a0004c0004 a0004c0012 a0008c0013 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0013 a0002c0002t0014 a0002c0009t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 a0004c0012t0001 a0008c0013t0004 a0009c0008t0002	a0001c0001t0001g0282 a0001c0001t0001g0398 a0001c0001t0001g0408 others(176): Show a0001c0001t0001g0282 a0001c0001t0001g0398 a0001c0001t0001g0408 a0001c0001t0001g0409 a0001c0001t0001g0410 a0001c0001t0002g0037 a0001c0001t0003g0002 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0077 a0001c0001t0003g0080 a0001c0001t0003g0099 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0181 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0004g0359 a0001c0001t0004g0386 a0001c0001t0004g0401 a0001c0001t0009g0294 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0021 a0002c0002t0001g0038 a0002c0002t0001g0043 a0002c0002t0001g0051 a0002c0002t0001g0079 a0002c0002t0001g0094 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0143 a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0001g0158 a0002c0002t0001g0163 a0002c0002t0001g0169 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0190 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0227 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0264 a0002c0002t0001g0268 a0002c0002t0001g0271 a0002c0002t0001g0280 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0305 a0002c0002t0001g0308 a0002c0002t0001g0316 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0332 a0002c0002t0001g0336 a0002c0002t0001g0354 a0002c0002t0001g0360 a0002c0002t0001g0372 a0002c0002t0001g0373 a0002c0002t0002g0083 a0002c0002t0002g0100 a0002c0002t0002g0113 a0002c0002t0002g0145 a0002c0002t0002g0162 a0002c0002t0002g0350 a0002c0002t0002g0351 a0002c0002t0002g0355 a0002c0002t0013g0363 a0002c0002t0014g0323 a0002c0009t0001g0406 a0003c0003t0002g0063 a0003c0003t0002g0081 a0003c0003t0003g0069 a0003c0003t0004g0339 a0004c0004t0001g0064 a0004c0004t0001g0065 a0004c0004t0001g0071 a0004c0004t0001g0072 a0004c0004t0001g0139 a0004c0004t0001g0142 a0004c0004t0001g0171 a0004c0004t0001g0177 a0004c0004t0001g0186 a0004c0004t0001g0187 a0004c0004t0001g0191 a0004c0004t0001g0192 a0004c0004t0001g0207 a0004c0004t0001g0306 a0004c0004t0001g0340 a0004c0004t0001g0345 a0004c0004t0001g0375 a0004c0004t0002g0097 a0004c0004t0002g0307 a0004c0004t0002g0309 a0004c0004t0002g0310 a0004c0004t0002g0311 a0004c0004t0002g0312 a0004c0004t0005g0344 a0004c0012t0001g0416 a0008c0013t0004g0419 a0009c0008t0002g0101	182	432	0.4213	-79	c.821 others(96): Show c.821+1760_821+1838delGTTTCCAAATGCTCCCATCCCCGTCTCA AGCCTACTTCTTTCTGTTTTTCATCTAGTTTCATGGTATCACATGTATTC C	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28201205	GGGCGGAG others(72): Show GGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCAGGGCGGAGGG GCTCCTCACTTCTCAGACGGGCGGTTGCCA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0200 a0004c0004t0001g0200	1	242	0.0041	-79	c.-15 others(98): Show c.-15+10574_-15+10652delGCTCCTCACTTCTCAGACGGGGCGGC TGCAGGGCGGAGGGGCTCCTCACTTCTCAGACGGGCGGTTGCCAGGCGGA GGG	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDC42EP5_chr19_54460026_54478296	54472464	ACCCCCCA others(72): Show ACCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCT TCCTCCTCCCTCAGACCCAGGAGTCAAGAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02572.hp1 HG02615.hp1 others(7): Show HG01255.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0063 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068	10	421	0.0238	-79	c.-14 others(96): Show c.-142+521_-142+599delATCTTGACTCCTGGGTCTGAGGGAGGAG GAAGGGCTGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGG G	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CDH11_chr16_64938753_65127063	64979472	AGATGCTT others(72): Show AGATGCTTGGTGTCACTAGTCATTATGAAAATACAAATCAAAACTATAAT GATATATCATTTCATACCCACTATGATAGC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0046 a0003c0018t0046	a0003c0018t0046g0254 a0003c0018t0046g0254	1	308	0.0033	-79	c.125 others(98): Show c.1253+2497_1253+2575delGCTATCATAGTGGGTATGAAATGATA TATCATTATAGTTTTGATTTGTATTTTCATAATGACTAGTGACACCAAGC ATC	CDH11	ENSG00000140937.14	transcript	ENST00000268603.9	protein_coding	8/12			chr16	TogoVar
CDH4_chr20_61247261_61945617	61534870	GCCTGCTC others(72): Show GCCTGCTCATCCTCAACCCGATGGCCTCCCTTGCTGGGACGCTCCTTTGG AGCAGCCTCTGGTGGGACAGTGGCAGAGAT	G G	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0055 a0001c0001t0040g0055	1	106	0.0094	-79	c.170 others(100): Show c.170-208692_170-208614delCCTGCTCATCCTCAACCCGATGGC CTCCCTTGCTGGGACGCTCCTTTGGAGCAGCCTCTGGTGGGACAGTGGCA GAGAT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CDH4_chr20_61247261_61945617	61744449	GGAGAGAG others(72): Show GGAGAGAGAGAAGGAGGGAGAGAGATGGAGAGAGGTGGAGGGAGAGAGAG AAGGAAAGGGAGGGGAGAGGAAGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00738.hp2 others(26): Show HG00408.hp2 HG00423.hp2 HG00738.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01346.hp1 HG01433.hp2 HG01978.hp1 HG02040.hp1 HG02055.hp1 HG02145.hp2 HG02451.hp1 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03540.hp1 HG03704.hp1 HG04115.hp2 NA18941.hp2 NA18952.hp1 NA18960.hp1 NA18960.hp2 NA19240.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0001c0006 others(9): Show a0001c0001 a0001c0003 a0001c0006 a0001c0020 a0002c0002 a0002c0004 a0002c0005 a0002c0008 a0002c0014 a0002c0026 a0004c0025 a0005c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0050 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0050 a0001c0001t0051 a0001c0003t0002 a0001c0003t0005 a0001c0006t0006 a0001c0006t0021 a0001c0006t0049 a0001c0020t0006 a0002c0002t0005 a0002c0002t0012 a0002c0002t0014 a0002c0002t0016 a0002c0002t0022 a0002c0002t0041 a0002c0004t0002 a0002c0004t0013 a0002c0004t0027 a0002c0004t0033 a0002c0005t0007 a0002c0005t0020 a0002c0005t0030 a0002c0008t0001 a0002c0008t0025 a0002c0014t0003 a0002c0026t0015 a0004c0025t0011 a0005c0019t0001	a0001c0001t0001g0030 a0001c0001t0002g0060 a0001c0001t0050g0063 others(26): Show a0001c0001t0001g0030 a0001c0001t0002g0060 a0001c0001t0050g0063 a0001c0001t0051g0083 a0001c0003t0002g0002 a0001c0003t0005g0054 a0001c0006t0006g0029 a0001c0006t0021g0004 a0001c0006t0049g0071 a0001c0020t0006g0094 a0002c0002t0005g0022 a0002c0002t0012g0082 a0002c0002t0014g0062 a0002c0002t0016g0073 a0002c0002t0022g0105 a0002c0002t0041g0087 a0002c0004t0002g0080 a0002c0004t0013g0021 a0002c0004t0027g0098 a0002c0004t0033g0095 a0002c0005t0007g0097 a0002c0005t0020g0056 a0002c0005t0030g0103 a0002c0008t0001g0028 a0002c0008t0025g0024 a0002c0014t0003g0090 a0002c0026t0015g0079 a0004c0025t0011g0099 a0005c0019t0001g0015	29	106	0.2736	-79	c.396 others(94): Show c.396+669_396+747delGAAGGAGGGAGAGAGATGGAGAGAGGTGGA GGGAGAGAGAGAAGGAAAGGGAGGGGAGAGGAAGAGAGGGAGAGAGAGA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CENPVL3_chrX_51612020_51623912	51621901	GGCTGGTC others(72): Show GGCTGGTCTCAAACTCCCAACCTTAGGTGATCTGCCTGCCTCGGCCTCCC AAAATGCTGGGATTACAGGCGTGAACCACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	298	0.0034	-79	c.-31 others(90): Show c.-3107_-3029delGGTGGTTCACGCCTGTAATCCCAGCATTTTGGGA GGCCGAGGCAGGCAGATCACCTAAGGTTGGGAGTTTGAGACCAGC	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2990		chrX	TogoVar
CEP72_chr5_607340_658553	632997	GCCGGGAT others(72): Show GCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTA GACCAGTCCTGGTGGGGTTCTGTCCAGTGC	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19065.hp1 NA18971.hp1 NA19065.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0002 a0004c0004t0003g0002	2	91	0.0220	-79	c.513 others(94): Show c.513-770_513-692delCGGGATTTGGCCCAGTCCTGGTGGGGTTCT GTCCAGTGCCGGGATTTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCC	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CLEC2L_chr7_139518685_139549985	139520574	AGGCAGAG others(72): Show AGGCAGAGAGGCTCCTCACATCCCAGATGATGGGCGGCCAGTCAGAGACG CTCCTCACTTCCCAGACGGGGTGGCAGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	308	0.0033	-79	c.-33 others(90): Show c.-3353_-3275delGGCAGAGAGGCTCCTCACATCCCAGATGATGGGC GGCCAGTCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCAGCCG	CLEC2L	ENSG00000236279.7	transcript	ENST00000422142.7	protein_coding		3110		chr7	TogoVar
CNST_chr1_246561456_246673595	246605723	GGGGTAGG others(72): Show GGGGTAGGTGTCTTCCGGCCGGGGTGCGTGTCTTCCGGCCGGGGTAGGTG TCTTCCGGCCGGGGTAGGTGTCTTCCGGCC	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	320	0.0031	-79	c.379 others(98): Show c.379+13786_379+13864delTAGGTGTCTTCCGGCCGGGGTGCGTG TCTTCCGGCCGGGGTAGGTGTCTTCCGGCCGGGGTAGGTGTCTTCCGGCC GGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL14A1_chr8_120120102_120378573	120218116	ATATCTAT others(72): Show ATATCTATATAAAAATATATAATATATAAATATAAATAAATATATAAATA TAAATATATATAAATATATAAGTATATATC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03139.hp2 HG00639.hp1 HG03139.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0006 a0002c0006t0002 a0002c0006t0006	a0002c0006t0002g0033 a0002c0006t0006g0212 a0002c0006t0002g0033 a0002c0006t0006g0212	2	218	0.0092	-79	c.173 others(98): Show c.1737+1630_1737+1708delCTATATAAAAATATATAATATATAAA TATAAATAAATATATAAATATAAATATATATAAATATATAAGTATATATC TAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	14/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL23A1_chr5_178232618_178595393	178518598	GCGCTCCT others(72): Show GCGCTCCTCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCAC TTCCTAGATGGGATGGCGGCCGGGCGGAGA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0151 a0002c0003t0005g0151	1	236	0.0042	-79	c.361 others(98): Show c.361+42005_361+42083delTCTCCGCCCGGCCGCCATCCCATCTA GGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGAGGA GCG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178518639	GCTCCTCA others(72): Show GCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCGGAGACGCTCCTCACA TCCCAGACGATGGGCGGCCAGGCAGAGACA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01256.hp1 HG00639.hp2 HG01256.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0063 a0002c0002t0001g0082 a0001c0001t0004g0063 a0002c0002t0001g0082	2	236	0.0085	-79	c.361 others(98): Show c.361+41964_361+42042delTGTCTCTGCCTGGCCGCCCATCGTCT GGGATGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAG GAG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101489711	TTCATTCT others(72): Show TTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTCTCTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp2 NA20905.hp2 HG00609.hp1 HG00673.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0007 a0002c0003 a0002c0007	a0002c0003t0001 a0002c0007t0004 a0002c0003t0001 a0002c0007t0004	a0002c0003t0001g0102 a0002c0003t0001g0112 a0002c0007t0004g0046 a0002c0003t0001g0102 a0002c0003t0001g0112 a0002c0007t0004g0046	3	174	0.0172	-79	c.385 others(98): Show c.385+41926_385+42004delCATTCTTTCTTTCTCTCTCTCTTTCT CTCTTTCTTTCTTGTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A4_chr2_226997714_227169205	227163853	AGGAGCCA others(72): Show AGGAGCCAGACGCGCTCTCCTCTGGTGACCCCCGGGCCACAACTCCCCAG CTGGGCCCGCCACCACCCCTTGAATGCCAC	A A	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0004	1	284	0.0035	-79	c.-10 others(95): Show c.-102+75_-102+153delGTGGCATTCAAGGGGTGGTGGCGGGCCCA GCTGGGGAGTTGTGGCCCGGGGGTCACCAGAGGAGAGCGCGTCTGGCTCC	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	1/47			chr2	TogoVar
COL6A2_chr21_46093112_46134801	46123177	AAGGGTCC others(72): Show AAGGGTCCCCTCCCTAGTGACCCCTCCACAACATCCCCCCAGAGTCCCCT CCCAGCATCCCCACTACAGCATCCCCCACC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01261.hp2 HG01884.hp1 others(28): Show HG00639.hp2 HG01261.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02083.hp2 HG02257.hp2 HG02258.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03579.hp1 HG03710.hp1 HG04115.hp2 HG04204.hp1 NA18906.hp2 NA19043.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0009	a0001c0006 a0001c0022 a0001c0026 others(6): Show a0001c0006 a0001c0022 a0001c0026 a0001c0028 a0002c0003 a0002c0034 a0003c0004 a0007c0036 a0009c0032	a0001c0006t0005 a0001c0006t0006 a0001c0006t0008 others(9): Show a0001c0006t0005 a0001c0006t0006 a0001c0006t0008 a0001c0022t0006 a0001c0026t0006 a0001c0028t0006 a0002c0003t0006 a0002c0003t0008 a0002c0034t0008 a0003c0004t0004 a0007c0036t0008 a0009c0032t0006	a0001c0006t0005g0057 a0001c0006t0005g0058 a0001c0006t0005g0059 others(27): Show a0001c0006t0005g0057 a0001c0006t0005g0058 a0001c0006t0005g0059 a0001c0006t0005g0064 a0001c0006t0005g0236 a0001c0006t0005g0237 a0001c0006t0005g0238 a0001c0006t0006g0239 a0001c0006t0006g0248 a0001c0006t0006g0249 a0001c0006t0006g0250 a0001c0006t0006g0266 a0001c0006t0006g0267 a0001c0006t0006g0268 a0001c0006t0008g0303 a0001c0022t0006g0050 a0001c0026t0006g0049 a0001c0028t0006g0247 a0002c0003t0006g0065 a0002c0003t0006g0067 a0002c0003t0008g0221 a0002c0003t0008g0222 a0002c0003t0008g0223 a0002c0003t0008g0224 a0002c0003t0008g0226 a0002c0003t0008g0227 a0002c0034t0008g0046 a0003c0004t0004g0014 a0007c0036t0008g0225 a0009c0032t0006g0229	31	372	0.0833	-79	c.167 others(96): Show c.1671+254_1671+332delTAGTGACCCCTCCACAACATCCCCCCAG AGTCCCCTCCCAGCATCCCCACTACAGCATCCCCCACCAGGGTCCCCTCC C	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46123177	AAGGGTCC others(72): Show AAGGGTCCCCTCCCTAGTGACCCCTCCACAACATCCCCCCAGAGTCCCCT CCCAGCATCCCCACTACAGCATCCCCCACC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01261.hp2 HG01884.hp1 others(27): Show HG00639.hp2 HG01261.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02083.hp2 HG02257.hp2 HG02258.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03579.hp1 HG03710.hp1 HG04115.hp2 HG04204.hp1 NA18906.hp2 NA19043.hp2 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0010 a0012	a0001c0007 a0001c0025 a0001c0026 others(10): Show a0001c0007 a0001c0025 a0001c0026 a0001c0035 a0001c0045 a0001c0047 a0002c0003 a0002c0013 a0002c0031 a0002c0055 a0004c0005 a0010c0057 a0012c0051	a0001c0007t0001 a0001c0007t0003 a0001c0007t0005 others(13): Show a0001c0007t0001 a0001c0007t0003 a0001c0007t0005 a0001c0025t0001 a0001c0026t0005 a0001c0035t0001 a0001c0045t0001 a0001c0047t0001 a0002c0003t0001 a0002c0013t0001 a0002c0013t0003 a0002c0031t0001 a0002c0055t0001 a0004c0005t0004 a0010c0057t0001 a0012c0051t0001	a0001c0007t0001g0302 a0001c0007t0003g0246 a0001c0007t0003g0247 others(27): Show a0001c0007t0001g0302 a0001c0007t0003g0246 a0001c0007t0003g0247 a0001c0007t0003g0263 a0001c0007t0003g0264 a0001c0007t0003g0265 a0001c0007t0005g0059 a0001c0007t0005g0060 a0001c0007t0005g0061 a0001c0007t0005g0066 a0001c0025t0001g0232 a0001c0025t0001g0235 a0001c0026t0005g0233 a0001c0026t0005g0234 a0001c0035t0001g0052 a0001c0045t0001g0051 a0001c0047t0001g0245 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0013t0001g0217 a0002c0013t0001g0219 a0002c0013t0003g0067 a0002c0013t0003g0069 a0002c0031t0001g0218 a0002c0031t0001g0220 a0002c0055t0001g0048 a0004c0005t0004g0238 a0004c0005t0004g0239 a0010c0057t0001g0221 a0012c0051t0001g0225	30	364	0.0824	-79	c.167 others(96): Show c.1671+254_1671+332delTAGTGACCCCTCCACAACATCCCCCCAG AGTCCCCTCCCAGCATCCCCACTACAGCATCCCCCACCAGGGTCCCCTCC C	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COMMD10_chr5_116080025_116298287	116129545	ATACTAAT others(72): Show ATACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATA TACATTAGTATATATATACTATATACTAAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03516.hp1 NA20300.hp1 HG02257.hp1 HG03516.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0262 a0001c0004t0001g0263 a0001c0004t0001g0264 a0001c0004t0001g0262 a0001c0004t0001g0263 a0001c0004t0001g0264	3	350	0.0086	-79	c.400 others(96): Show c.400-4522_400-4444delTACTAATGTAATATACATTAGTATATAT ATACTATATACTAATGTAATATACATTAGTATATATATACTATATACTAA T	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6			chr5	TogoVar
CPSF2_chr14_92116969_92177145	92173352	TATATACG others(72): Show TATATACGTATATATATATGTATATATATACGTATATATATATATACACA TATGTATATATATATATGTGTATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	388	0.0026	-79	c.11 others(92): Show c.11609_*11687delATATACGTATATATATATGTATATATATACGT ATATATATATATACACATATGTATATATATATATGTGTATATATATA	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1208		chr14	TogoVar
CST9L_chr20_23559732_23573484	23561005	TTCCTTCC others(72): Show TTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTT CTTTCCTTCTTTCCTTCTTTCCTTCTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 NA18992.hp1 HG02040.hp1 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	2	392	0.0051	-79	c.38 others(90): Show c.3864_*3942delGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3726		chr20	TogoVar
CTDP1_chr18_79674803_79759503	79684903	AGGGTGTG others(72): Show AGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCT ACTCCCGGTTTCTCTGCGGTGCTCCTTACG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03225.hp1 NA19030.hp2 HG02818.hp2 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0089 a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0089	3	378	0.0079	-79	c.314 others(96): Show c.314+4698_314+4776delGGTTTCTCTGCGGTGCTCCTTACGGGGT GTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCTACTCC C	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79732330	ATCAGGAG others(72): Show ATCAGGAGTGCTCCCAAAATCACGTGAGACATGAGAACTCACATCAGGAG TGCTCCCAAAATCACGCGAGACATGAGAAC	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0257 a0002c0002t0001g0257	1	378	0.0027	-79	c.258 others(98): Show c.2580+3327_2580+3405delCGAGACATGAGAACTCAGGAGTGCTC CCAAAATCACGTGAGACATGAGAACTCACATCAGGAGTGCTCCCAAAATC ACG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79732396	CGAGACAT others(72): Show CGAGACATGAGAACTCAGGAGTGCTCCCAAAATCACGTGAGACATGAGAA CTCACATCAGGAGTGCTCCCAAAATCACGT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01496.hp1 HG01168.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0093 a0001c0001t0002g0094	2	378	0.0053	-79	c.258 others(98): Show c.2580+3344_2580+3422delGGAGTGCTCCCAAAATCACGTGAGAC ATGAGAACTCACATCAGGAGTGCTCCCAAAATCACGTGAGACATGAGAAC TCA	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNNA2_chr2_79508051_80653780	80075543	TAATATTT others(72): Show TAATATTTATACATGTATAAATATTATAAAATAATATTTATACATGTATA AATATAAATATTTATACATGTATAAATATA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	68	0.0147	-79	c.105 others(102): Show c.1056+165777_1056+165855delTAATATTTATACATGTATAAAT ATAAATATTTATACATGTATAAATATAAATATTTATACATGTATAAATAT TATAAAA	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYFIP1_chr15_22862052_22985368	22964274	CCACACAC others(72): Show CCACACACACACACACACACACACACACACACACACACACAACTGGCGGC CCCACCAGCAGACTCCGCAACCTCATCACT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA20905.hp1 HG02280.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0020 a0002c0011 a0001c0020 a0002c0011	a0001c0020t0022 a0002c0011t0004 a0001c0020t0022 a0002c0011t0004	a0001c0020t0022g0086 a0002c0011t0004g0079 a0001c0020t0022g0086 a0002c0011t0004g0079	2	342	0.0059	-79	c.-7+ others(96): Show c.-7+15934_-7+16012delAGTGATGAGGTTGCGGAGTCTGCTGGTG GGGCCGCCAGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT G	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
DACT2_chr6_168301904_168324777	168321844	TCTTCCTC others(72): Show TCTTCCTCTTCCTCTTCCTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	476	0.0021	-79	c.-22 others(90): Show c.-2290_-2212delGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAGGAAGAGGAAGAGGAAG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding		2068		chr6	TogoVar
DHRSX_chrX_2214506_2505976	2296907	AGACCCCA others(72): Show AGACCCCAGGCAGATAGGAATAGGACCCAGGCAGATAGGAATAGGACCCA GGCAGATAGACCCCAGGCAGACAGGAATAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp1 HG02630.hp2 HG03098.hp1	a0004 a0010 a0004 a0010	a0004c0004 a0010c0015 a0004c0004 a0010c0015	a0004c0004t0009 a0010c0015t0007 a0004c0004t0009 a0010c0015t0007	a0004c0004t0009g0032 a0010c0015t0007g0036 a0004c0004t0009g0032 a0010c0015t0007g0036	2	50	0.0400	-79	c.287 others(96): Show c.287-5383_287-5305delCTATTCCTGTCTGCCTGGGGTCTATCTG CCTGGGTCCTATTCCTATCTGCCTGGGTCCTATTCCTATCTGCCTGGGGT C	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DIP2C_chr10_269201_694668	475804	AAGCCACA others(72): Show AAGCCACAAATAGGCGTCGCTCAACTGGATTCCAGCCTGTGACCGCACAG GGCCCAGGGGCAGCAGAGGGGCATACCCAC	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	88	0.0114	-79	c.158 others(96): Show c.158-3334_158-3256delGTGGGTATGCCCCTCTGCTGCCCCTGGG CCCTGTGCGGTCACAGGCTGGAATCCAGTTGAGCGACGCCTATTTGTGGC T	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	637265	CGTCCACC others(72): Show CGTCCACCTAGGCTGCTGTAACAACACACCATAGGCTGGGCGGGGACTGA CAAACAACAGAAAATTCACAACCTGCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03130.hp2 HG02717.hp2 HG03130.hp2	a0001 a0001	a0001c0010 a0001c0016 a0001c0010 a0001c0016	a0001c0010t0002 a0001c0016t0009 a0001c0010t0002 a0001c0016t0009	a0001c0010t0002g0001 a0001c0016t0009g0073 a0001c0010t0002g0001 a0001c0016t0009g0073	2	88	0.0227	-79	c.85+ others(96): Show c.85+52150_85+52228delAAAGGCAGGTTGTGAATTTTCTGTTGTT TGTCAGTCCCCGCCCAGCCTATGGTGTGTTGTTACAGCAGCCTAGGTGGA C	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar

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