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
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	318	0.0031	30	c.12 others(43): Show c.12593_*12594insTATATATATATATATAGAGAGAGAGAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01123.hp2 HG03209.hp1 HG00544.hp2 HG01123.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0001c0001t0001 a0001c0001t0005 a0001c0001t0016	a0001c0001t0001g0001 a0001c0001t0005g0189 a0001c0001t0016g0215 a0001c0001t0001g0001 a0001c0001t0005g0189 a0001c0001t0016g0215	3	318	0.0094	30	c.12 others(43): Show c.12593_*12594insTATATATATATATAGAGAGAGAGAGAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01168.hp1 HG01169.hp2 others(3): Show HG00733.hp1 HG01168.hp1 HG01169.hp2 HG01261.hp1 HG01433.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0090 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0090 a0001c0001t0097	a0001c0001t0001g0001 a0001c0001t0004g0037 a0001c0001t0004g0177 others(2): Show a0001c0001t0001g0001 a0001c0001t0004g0037 a0001c0001t0004g0177 a0001c0001t0090g0068 a0001c0001t0097g0183	6	318	0.0189	30	c.12 others(43): Show c.12593_*12594insTATATATATATAGAGAGAGAGAGAGAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0190 a0001c0001t0005g0190	1	318	0.0031	30	c.12 others(43): Show c.12593_*12594insTATATATATAGAGAGAGAGAGAGAGAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp2 HG02165.hp1 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0033 a0001c0001t0001 a0001c0001t0033	a0001c0001t0001g0084 a0001c0001t0033g0057 a0001c0001t0001g0084 a0001c0001t0033g0057	2	318	0.0063	30	c.12 others(43): Show c.12593_*12594insTATATATAGAGAGAGAGAGAGAGAGAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0019 a0001c0001t0021g0019	1	318	0.0031	30	c.12 others(43): Show c.12593_*12594insTATAGAGAGAGAGAGAGAGAGAGAGAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0208 a0001c0001t0016g0208	1	318	0.0031	30	c.12 others(43): Show c.12593_*12594insTAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049791	A A	ATATATAT others(23): Show ATATATATATACATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0162 a0001c0001t0062g0162	1	318	0.0031	30	c.12 others(43): Show c.12567_*12568insAAAAAAAAAAAAAAAAAATGTATATATATA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		894		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103072328	G G	GGATCTAG others(23): Show GGATCTAGAACTAGATCTAGATCTAGATCTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02647.hp2 HG02717.hp1 others(4): Show HG02451.hp1 HG02647.hp2 HG02717.hp1 NA18960.hp1 NA19030.hp1 NA19060.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0019 a0001c0001t0120	a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0008g0117 others(4): Show a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0008g0117 a0001c0001t0010g0118 a0001c0001t0019g0073 a0001c0001t0019g0182 a0001c0001t0120g0120	7	318	0.0220	30	c.342 others(47): Show c.342-5791_342-5762dupTAGATCTAGATCTAGATCTAGTTCTAGA TC	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding	4/7			chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103072343	T T	TCTAGATC others(23): Show TCTAGATCTAGATCTAGATCTAGAACTAGAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0134 a0001c0001t0066g0134	1	318	0.0031	30	c.342 others(47): Show c.342-5806_342-5777dupTTCTAGTTCTAGATCTAGATCTAGATCT AG	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding	4/7			chr11	TogoVar
DCX_chrX_111288779_111417192	111404048	T T	TTAAAATA others(23): Show TTAAAATAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0036 a0001c0001t0048g0036	1	183	0.0055	30	c.365 others(47): Show c.365-2748_365-2719dupTTTTATTTTATTTTATTTTATTTTATTT TA	DCX	ENSG00000077279.21	transcript	ENST00000636035.2	protein_coding	2/6			chrX	TogoVar
DDA1_chr19_17304563_17328298	17315429	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19004.hp1 HG00642.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0234 a0001c0001t0005g0185 a0001c0001t0004g0234 a0001c0001t0005g0185	2	388	0.0052	30	c.137 others(45): Show c.137-479_137-478insATATATATATATATATATATATATATATAT	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDHD1_chr14_53031755_53158323	53124249	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0250 a0001c0006t0006g0250	1	290	0.0035	30	c.839 others(49): Show c.839-20394_839-20393insTATATATATATATATATATATATATA TATA	DDHD1	ENSG00000100523.17	transcript	ENST00000673822.2	protein_coding	1/12			chr14	TogoVar
DDN_chr12_48990149_49004375	49002545	A A	AGGGCCAA others(23): Show AGGGCCAAGATGGAGGCAGAGGCAAGTGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	352	0.0028	30	c.-32 others(41): Show c.-3288_-3259dupCCTCACTTGCCTCTGCCTCCATCTTGGCCC	DDN	ENSG00000181418.8	transcript	ENST00000421952.3	protein_coding		3171		chr12	TogoVar
DDR2_chr1_162627464_162792405	162729280	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0077 a0001c0005t0011g0077	1	302	0.0033	30	c.82+ others(47): Show c.82+10156_82+10157insATATATATATATATATATATATATATAT AT	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDR2_chr1_162627464_162792405	162729300	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0296 a0001c0002t0053g0296	1	302	0.0033	30	c.82+ others(47): Show c.82+10156_82+10157insATATATATATATATATATATATATATAT TT	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDR2_chr1_162627464_162792405	162741209	C C	CAATATAA others(23): Show CAATATAATATAATATAATATAATATAATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18986.hp2 HG02129.hp1 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0002 a0001c0001t0002 a0002c0004t0002	a0001c0001t0002g0024 a0002c0004t0002g0023 a0001c0001t0002g0024 a0002c0004t0002g0023	2	302	0.0066	30	c.83- others(47): Show c.83-11879_83-11850dupATATAATATAATATAATATAATATAATA TA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDX10_chr11_108660069_108945927	108837607	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	320	0.0031	30	c.196 others(47): Show c.1966-833_1966-804dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX10_chr11_108660069_108945927	108909322	T T	TCTGTGCC others(23): Show TCTGTGCCCCACTCCCGCCCCTTCCCTTGTC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03927.hp2 HG04204.hp2 others(7): Show HG03688.hp2 HG03927.hp2 HG04204.hp2 NA18944.hp2 NA18957.hp2 NA18970.hp1 NA18979.hp2 NA18982.hp1 NA18986.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(7): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0152 a0001c0001t0001g0251 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298	10	320	0.0313	30	c.230 others(49): Show c.2305-8422_2305-8393dupCACTCCCGCCCCTTCCCTTGTCCTGT GCCC	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX10_chr11_108660069_108945927	108909430	C C	CCCTTCCC others(23): Show CCCTTCCCTTGTCCTGTGCCCCACTCCCGCT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	320	0.0031	30	c.230 others(49): Show c.2305-8414_2305-8413insTCCTTCCCTTGTCCTGTGCCCCACTC CCGC	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX11_chr12_31068860_31109799	31108550	A A	AAATAAAT others(23): Show AAATAAATAAATAAATAAATAAATAAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	418	0.0024	30	c.47 others(41): Show c.4714_*4715insAATAAATAAATAAATAAATAAATAAATAAT	DDX11	ENSG00000013573.17	transcript	ENST00000542838.6	protein_coding		3752		chr12	TogoVar
DDX19A_chr16_70341903_70378383	70357366	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	392	0.0026	30	c.293 others(47): Show c.293+1126_293+1155dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DDX19A	ENSG00000168872.17	transcript	ENST00000302243.12	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0187 a0001c0001t0010g0187	1	336	0.0030	30	c.58 others(41): Show c.5810_*5811insAAAAAAAAAAAAAAAAATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	336	0.0030	30	c.58 others(41): Show c.5810_*5811insAAAAAAAAAAAAAAATATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX24_chr14_94043287_94086202	94065381	T T	TGACACAC others(23): Show TGACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0214 a0001c0001t0020g0215 a0001c0001t0020g0214 a0001c0001t0020g0215	2	371	0.0054	30	c.719 others(47): Show c.719-2761_719-2760insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TC	DDX24	ENSG00000089737.19	transcript	ENST00000621632.5	protein_coding	2/8			chr14	TogoVar
DDX28_chr16_68015916_68028232	68020853	A A	ATATATAT others(23): Show ATATATATATATATATATATATACGTATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG04184.hp1 HG02976.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	390	0.0051	30	c.72 others(39): Show c.726_*727insCACATACGTATATATATATATATATATATA	DDX28	ENSG00000182810.7	transcript	ENST00000332395.7	protein_coding		62		chr16	TogoVar
DDX31_chr9_132587997_132674983	132632239	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01993.hp1 HG04115.hp1 others(2): Show HG00621.hp2 HG01993.hp1 HG04115.hp1 NA18962.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0203 a0001c0001t0001g0295 a0001c0001t0001g0298 others(2): Show a0001c0001t0001g0203 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0002g0041 a0001c0001t0002g0385	5	402	0.0124	30	c.144 others(47): Show c.1441-149_1441-148insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX4_chr5_55733061_55822157	55765411	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	346	0.0029	30	c.334 others(47): Show c.334+1348_334+1349insTATATATATATATATATATATATATATA TA	DDX4	ENSG00000152670.19	transcript	ENST00000505374.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
DDX4_chr5_55733061_55822157	55765413	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	346	0.0029	30	c.334 others(47): Show c.334+1373_334+1374insATATATATATATATATATATATATATAT AT	DDX4	ENSG00000152670.19	transcript	ENST00000505374.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
DDX60L_chr4_168351735_168485492	168422999	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03139.hp2 NA19030.hp1 HG02717.hp1 HG03139.hp2 NA19030.hp1	a0004 a0036 a0004 a0036	a0004c0019 a0036c0052 a0004c0019 a0036c0052	a0004c0019t0001 a0036c0052t0002 a0004c0019t0001 a0036c0052t0002	a0004c0019t0001g0070 a0004c0019t0001g0080 a0036c0052t0002g0082 a0004c0019t0001g0070 a0004c0019t0001g0080 a0036c0052t0002g0082	3	268	0.0112	30	c.209 others(47): Show c.2098-330_2098-329insTACACACACACACACACACACACACACA CA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	15/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168287729	G G	GAAATCTT others(23): Show GAAATCTTACCCTAAGAAAAGATTTTAAAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0208 a0003c0004t0001g0208	1	270	0.0037	30	c.118 others(47): Show c.1183+415_1183+444dupTCTTTAAAATCTTTTCTTAGGGTAAGAT TT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	9/37			chr4	TogoVar
DEAF1_chr11_639233_700222	690266	C C	CAGGAGAG others(23): Show CAGGAGAGGGGAGGGGAGGGCAGGGCAGGGG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02572.hp2 HG03490.hp1 HG01258.hp2 HG02572.hp2 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189	3	345	0.0087	30	c.387 others(47): Show c.387+1234_387+1235insCCCCTGCCCTGCCCTCCCCTCCCCTCTC CT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690331	G G	GAGGGGAG others(23): Show GAGGGGAGGGGAGGGGAGGGCAGGGGAGGGC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02258.hp2 HG01943.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0044 a0001c0001t0001g0045	2	345	0.0058	30	c.387 others(47): Show c.387+1169_387+1170insGCCCTCCCCTGCCCTCCCCTCCCCTCCC CT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690341	C C	CAGGGGAG others(23): Show CAGGGGAGGGCAGGGGAGGGCAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(100): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01175.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01943.hp1 HG01975.hp1 HG02004.hp2 HG02040.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp2 HG03017.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18952.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18970.hp1 NA18973.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18994.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19091.hp2 NA20129.hp1 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0011 a0001c0013 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0009t0001 a0001c0011t0001 a0001c0013t0001 a0005c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(98): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0138 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0003g0139 a0001c0003t0001g0056 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0020 a0001c0004t0001g0021 a0001c0004t0001g0022 a0001c0004t0001g0024 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0001g0028 a0001c0006t0001g0019 a0001c0006t0001g0080 a0001c0006t0001g0105 a0001c0006t0001g0106 a0001c0006t0001g0117 a0001c0009t0001g0063 a0001c0011t0001g0085 a0001c0013t0001g0078 a0005c0010t0001g0084	103	345	0.2986	30	c.387 others(47): Show c.387+1159_387+1160insCCCCTCCCCTGCCCTCCCCTGCCCTCCC CT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690346	G G	GAGGGCAG others(23): Show GAGGGCAGGGGAGGGCAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	345	0.0029	30	c.387 others(47): Show c.387+1154_387+1155insCCCCTCCCCTCCCCTGCCCTCCCCTGCC CT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGGGGGGG others(23): Show TGGGGGGGTGAGGGAGTCGGGGGTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	367	0.0027	30	c.-42 others(41): Show c.-4255_-4254insGGGGGGGTGAGGGAGTCGGGGGTGGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DEF6_chr6_35292818_35326771	35308672	C C	CAAAATAA others(23): Show CAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	326	0.0031	30	c.97- others(43): Show c.97-969_97-940dupATAAAATAAAATAAAATAAAATAAAATAAA	DEF6	ENSG00000023892.12	transcript	ENST00000316637.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
DEF6_chr6_35292818_35326771	35323318	T T	TGTGCCTG others(23): Show TGTGCCTGATCAGTCTCCAGGCTGGAGCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	326	0.0031	30	c.19 others(41): Show c.1908_*1909insGTGCCTGATCAGTCTCCAGGCTGGAGCACA	DEF6	ENSG00000023892.12	transcript	ENST00000316637.7	protein_coding		1548		chr6	TogoVar
DEF8_chr16_89943755_89973060	89948865	G G	GGGGACGG others(23): Show GGGGACGGGGTCGGCGGGGTCGGGGCTGGGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	392	0.0026	30	c.-10 others(45): Show c.-108+60_-108+61insTCGGCGGGGTCGGGGCTGGGAGGGACGGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89948955	A A	AGGGACGG others(23): Show AGGGACGGGGCCGGCGGGGACGGGGTCGGCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0177 a0001c0001t0019g0177	1	392	0.0026	30	c.-10 others(47): Show c.-108+165_-108+166insTCGGCGGGGACGGGGCCGGCGGGGACGG GG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89948970	G G	GGGGACGG others(23): Show GGGGACGGGGTCGGCGGGGTCGGGGCTGGGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	392	0.0026	30	c.-10 others(47): Show c.-108+165_-108+166insTCGGCGGGGTCGGGGCTGGGAGGGACGG GG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEFB116_chr20_31298212_31313585	31298455	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	416	0.0024	30	c.47 others(41): Show c.4756_*4757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DEFB116	ENSG00000215545.1	transcript	ENST00000400549.1	protein_coding		4756		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31460635	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03471.hp2 HG02717.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	2	362	0.0055	30	c.48 others(41): Show c.4870_*4871insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding		4835		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31466606	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02572.hp1 HG02145.hp2 HG02258.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0133 a0001c0001t0002g0031 a0001c0001t0002g0133	3	362	0.0083	30	c.59- others(43): Show c.59-944_59-943insATATATATATATATATATATATATATATAT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB128_chr20_182853_194711	183617	G G	GGAAAAGA others(23): Show GGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG03540.hp1 NA18964.hp2 others(1): Show HG02922.hp2 HG03540.hp1 NA18964.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0004 a0001c0006t0001g0016 a0001c0001t0001g0004 a0001c0006t0001g0016	4	470	0.0085	30	c.42 others(41): Show c.4268_*4269insTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	DEFB128	ENSG00000185982.7	transcript	ENST00000334391.5	protein_coding		4235		chr20	TogoVar
DEFB134_chr8_11988174_12005752	12001892	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	448	0.0022	30	c.-12 others(41): Show c.-1233_-1232insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	DEFB134	ENSG00000205882.9	transcript	ENST00000382205.6	protein_coding		1141		chr8	TogoVar
DENND10_chr10_119099113_119142984	119115382	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	374	0.0027	30	c.333 others(47): Show c.333-2114_333-2113insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DENND10	ENSG00000119979.18	transcript	ENST00000361432.3	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
DENND11_chr7_141651728_141707166	141674230	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19079.hp2 HG03471.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0017 a0001c0001t0008 a0001c0002t0017	a0001c0001t0008g0046 a0001c0002t0017g0042 a0001c0001t0008g0046 a0001c0002t0017g0042	2	345	0.0058	30	c.528 others(43): Show c.528-11_528-10insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	DENND11	ENSG00000257093.7	transcript	ENST00000536163.6	protein_coding	3/8			chr7	TogoVar
DENND11_chr7_141651728_141707166	141701358	A A	AGGGCGAG others(23): Show AGGGCGAGCGGGGAGCGGGGGACGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp1 HG02922.hp2 HG02622.hp1 HG02717.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0012 a0001c0008t0033 a0001c0001t0012 a0001c0008t0033	a0001c0001t0012g0044 a0001c0001t0012g0045 a0001c0008t0033g0043 a0001c0001t0012g0044 a0001c0001t0012g0045 a0001c0008t0033g0043	3	345	0.0087	30	c.268 others(45): Show c.268+498_268+527dupCCCACCCCGTCCCCCGCTCCCCGCTCGCCC	DENND11	ENSG00000257093.7	transcript	ENST00000536163.6	protein_coding	1/8			chr7	TogoVar
DENND1A_chr9_123374658_123935126	123395468	C C	CTCTCTCT others(23): Show CTCTCTCTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp1 HG03195.hp2 others(1): Show HG01891.hp1 HG02723.hp1 HG03195.hp2 HG06807.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0020 a0001c0001 a0005c0020	a0001c0001t0006 a0001c0001t0019 a0005c0020t0006 a0001c0001t0006 a0001c0001t0019 a0005c0020t0006	a0001c0001t0006g0056 a0001c0001t0006g0142 a0001c0001t0019g0114 others(1): Show a0001c0001t0006g0056 a0001c0001t0006g0142 a0001c0001t0019g0114 a0005c0020t0006g0140	4	162	0.0247	30	c.163 others(49): Show c.1632-7611_1632-7610insCACACACACACACACACACACACAGA GAGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	21/23			chr9	TogoVar

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