Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CROCC2_chr2_240901336_240998311	240985193	GGCACTCA others(83): Show GGCACTCACTCCACCACACACACACACCCAGGCACTCACTCCACACACAC ACCCAGGCACTCACTCCACACACACACCCAGGCACTCCACA	G G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19004.hp2 NA18994.hp1 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0011t0002 a0002c0002t0001 a0002c0011t0002	a0002c0002t0001g0141 a0002c0011t0002g0337 a0002c0002t0001g0141 a0002c0011t0002g0337	2	348	0.0057	-90	c.455 others(109): Show c.4551+2165_4551+2254delGCACTCACTCCACCACACACACACAC CCAGGCACTCACTCCACACACACACCCAGGCACTCACTCCACACACACAC CCAGGCACTCCACA		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31						chr2	TogoVar
CROCC2_chr2_240901336_240998311	240985321	GGCACTCA others(83): Show GGCACTCACTCCACCACACACACACACCCAGGCACTCACTCCACACACAA ACCCAGGCACTCACTCCACACACACACCCAGGCACTCCACA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG04115.hp2 HG04199.hp2 others(7): Show HG02004.hp2 HG04115.hp2 HG04199.hp2 NA18612.hp2 NA18951.hp2 NA18953.hp2 NA18960.hp2 NA18971.hp2 NA19065.hp1 NA19082.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0011	a0001c0001 a0005c0005 a0006c0006 others(1): Show a0001c0001 a0005c0005 a0006c0006 a0011c0080	a0001c0001t0001 a0001c0001t0002 a0005c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0005c0005t0001 a0006c0006t0001 a0011c0080t0001	a0001c0001t0001g0122 a0001c0001t0001g0172 a0001c0001t0002g0249 others(7): Show a0001c0001t0001g0122 a0001c0001t0001g0172 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0265 a0005c0005t0001g0037 a0005c0005t0001g0093 a0005c0005t0001g0157 a0006c0006t0001g0107 a0011c0080t0001g0161	10	335	0.0299	-90	c.455 others(109): Show c.4551+2293_4551+2382delGCACTCACTCCACCACACACACACAC CCAGGCACTCACTCCACACACAAACCCAGGCACTCACTCCACACACACAC CCAGGCACTCCACA		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31						chr2	TogoVar
CTBP1_chr4_1206445_1254130	1207518	TCCATGTG others(83): Show TCCATGTGCCGCGCTTACACATGCTCCAGAGGGTCCGGCTGCCTAACCAT GCGCCGCGCTTACACATGCTCCAGAGGGTCCGGCTGCCTAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG01891.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0214 a0001c0001t0002g0311 a0001c0001t0001g0214 a0001c0001t0002g0311	2	419	0.0048	-90	c.46 others(101): Show c.4632_*4721delTTAGGCAGCCGGACCCTCTGGAGCATGTGTAAGC GCGGCGCATGGTTAGGCAGCCGGACCCTCTGGAGCATGTGTAAGCGCGGC ACATGG		CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding					3926		chr4	TogoVar
CTBP1_chr4_1206445_1254130	1207524	TGCCGCGC others(83): Show TGCCGCGCTTACACATGCTCCAGAGGGTCCGGCTGCCTAACCATGCGCCG CGCTTACACATGCTCCAGAGGGTCCGGCTGCCTAACCATGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG03225.hp2 HG01243.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0166 a0001c0001t0002g0022 a0001c0001t0002g0166	2	206	0.0097	-90	c.46 others(101): Show c.4626_*4715delGCATGGTTAGGCAGCCGGACCCTCTGGAGCATGT GTAAGCGCGGCGCATGGTTAGGCAGCCGGACCCTCTGGAGCATGTGTAAG CGCGGC		CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding					3920		chr4	TogoVar
CTDP1_chr18_79674803_79759503	79739776	AGGACGGG others(83): Show AGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02630.hp2 HG02717.hp1 others(14): Show HG02300.hp1 HG02630.hp2 HG02717.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03453.hp1 NA18940.hp2 NA18951.hp1 NA18955.hp2 NA18984.hp1 NA18988.hp2 NA18990.hp2 NA19004.hp1 NA19067.hp1 NA19080.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0012	a0001c0003 a0001c0016 a0001c0020 others(3): Show a0001c0003 a0001c0016 a0001c0020 a0002c0006 a0005c0011 a0012c0026	a0001c0003t0001 a0001c0016t0001 a0001c0020t0001 others(3): Show a0001c0003t0001 a0001c0016t0001 a0001c0020t0001 a0002c0006t0001 a0005c0011t0005 a0012c0026t0001	a0001c0003t0001g0002 a0001c0003t0001g0031 a0001c0003t0001g0035 others(13): Show a0001c0003t0001g0002 a0001c0003t0001g0031 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0070 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0365 a0001c0003t0001g0366 a0001c0016t0001g0065 a0001c0020t0001g0343 a0002c0006t0001g0225 a0005c0011t0005g0363 a0012c0026t0001g0063	17	34	0.5000	-90	c.274 others(109): Show c.2747+3601_2747+3690delTCATACCCACGGCCGGGACGGGTGGG ACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGG GACGGGTGGGACTC		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTIF_chr18_48534031_48868217	48730606	CTGTGTGA others(83): Show CTGTGTGAGGGGCTCCTGCGGTGTGAGGGGCCCCTGTGGTGTGAGGGGCT TCTGCGGTGTGAGGGGCTTCTGCGGTGTGAGGAGCCCCTGA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02602.hp2 NA18906.hp2 HG00639.hp1 HG02602.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0003 a0001c0001t0017 a0001c0014t0028 a0001c0001t0003 a0001c0001t0017 a0001c0014t0028	a0001c0001t0003g0042 a0001c0001t0017g0100 a0001c0014t0028g0095 a0001c0001t0003g0042 a0001c0001t0017g0100 a0001c0014t0028g0095	3	142	0.0211	-90	c.584 others(109): Show c.584+18912_584+19001delTGTGTGAGGGGCTCCTGCGGTGTGAG GGGCCCCTGTGGTGTGAGGGGCTTCTGCGGTGTGAGGGGCTTCTGCGGTG TGAGGAGCCCCTGA		CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	7/11						chr18	TogoVar
DAB2IP_chr9_121646634_121790530	121653156	CAGTACTA others(83): Show CAGTACTAAGCCTTTAGTACTCCTTGGAGGGAGTACTAAGCCTTTAGTAC TCCTTGGAGGGAGTACTAAGCCTTTAGTACTCCTTGGAGGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02723.hp1 HG00323.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0005 a0001c0001t0001 a0001c0007t0005	a0001c0001t0001g0011 a0001c0007t0005g0010 a0001c0001t0001g0011 a0001c0007t0005g0010	2	36	0.0556	-90	c.124 others(107): Show c.124+1296_124+1385delGCCTTTAGTACTCCTTGGAGGGAGTACT AAGCCTTTAGTACTCCTTGGAGGGAGTACTAAGCCTTTAGTACTCCTTGG AGGGAGTACTAA		DAB2IP	ENSG00000136848.19	transcript	ENST00000408936.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr9	TogoVar
DAGLB_chr7_6404129_6452954	6421307	TCAGGCAG others(83): Show TCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGG AGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA19056.hp2 HG00099.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0239 a0001c0001t0003g0216 a0001c0001t0003g0239	2	118	0.0169	-90	c.121 others(107): Show c.1218+330_1218+419delCGCCTCCCGCGCTGCCTGCGCCTCCCGC GCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTC CCGCGCTGCCTG		DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14						chr7	TogoVar
DCC_chr18_52335197_53540899	53428740	CTATATAT others(83): Show CTATATATTTTATATATAATAAATTATATATTATATATTTTATATATAAT AAATTATATATTATATATTTTATATATAATAAATTATATAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0022 a0001c0015t0022	a0001c0015t0022g0101 a0001c0015t0022g0101	1	26	0.0385	-90	c.316 others(109): Show c.3164-6283_3164-6194delTATATATTTTATATATAATAAATTAT ATATTATATATTTTATATATAATAAATTATATATTATATATTTTATATAT AATAAATTATATAT		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2C_chr2_3698575_3853008	3725710	CAAAGAGT others(83): Show CAAAGAGTGACGAGGCTGGCCAGGTGGATCCCGGAGAGAGACTGCCAGAG AGTGATGAGGGTGGCCAGGTGGATCCCGGAGGGAGATGAGT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0013 a0001c0002t0025g0013	1	322	0.0031	-90	c.340 others(107): Show c.340-1291_340-1202delAAGAGTGACGAGGCTGGCCAGGTGGATC CCGGAGAGAGACTGCCAGAGAGTGATGAGGGTGGCCAGGTGGATCCCGGA GGGAGATGAGTA		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
DEF8_chr16_89943755_89973060	89948966	CGGCGGGG others(83): Show CGGCGGGGACGGGGCCGGCGGGGACGGGGCCGGCGGGGTCGGGGCTGGGA GGGACGGGGCCGGCGGGGACGGGGTCGGCGGGGTCGGGGCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02818.hp1 others(3): Show HG02258.hp2 HG02280.hp2 HG02818.hp1 HG03209.hp1 HG03486.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0002t0011 a0001c0001t0001 a0001c0002t0007 a0001c0002t0011	a0001c0001t0001g0060 a0001c0002t0007g0024 a0001c0002t0007g0056 others(2): Show a0001c0001t0001g0060 a0001c0002t0007g0024 a0001c0002t0007g0056 a0001c0002t0011g0057 a0001c0002t0011g0058	6	377	0.0159	-90	c.-10 others(107): Show c.-108+155_-108+244delCGGGGACGGGGCCGGCGGGGACGGGGCC GGCGGGGTCGGGGCTGGGAGGGACGGGGCCGGCGGGGACGGGGTCGGCGG GGTCGGGGCTGG		DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
DHRSX_chrX_2214506_2505976	2276893	AAGAGAGA others(83): Show AAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAA CGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	45	0.0222	-90	c.389 others(108): Show c.389-10036_389-9947delCTTCCCCCATTTCCTCCTCTTCCTTCT CTCTCCCTCTCTCGTTTGCCCTCCCTCTCTCTCCCTGTTCCCTCTCCATC TCTCTTTCTCTCT		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar
DHRSX_chrX_2214506_2505976	2277338	AAGAAAGA others(83): Show AAGAAAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCA AACGAGAGGGAGAGAGAAGGAGGGGAGGAAATAGGGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01934.hp1 HG01928.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0025 a0001c0001t0001g0041	2	47	0.0426	-90	c.389 others(109): Show c.389-10481_389-10392delCTTTCCCCTATTTCCTCCCCTCCTTC TCTCTCCCTCTCGTTTGCCCTCCCTCTCTCTCCCTGTTCCCTCTCCATCT CTCTTTCTCTTTCT		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar
DIP2C_chr10_269201_694668	321579	GCGGGGCT others(83): Show GCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0084 a0001c0002t0003g0084	1	87	0.0115	-90	c.392 others(109): Show c.3924+5337_3924+5426delACTGACTGTTCTAACAGCGCCGGTCT CTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTC TCGCTGGAGCCCCG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	321677	GCGGGGCT others(83): Show GCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0008 a0001c0020t0008	a0001c0020t0008g0074 a0001c0020t0008g0074	1	88	0.0114	-90	c.392 others(109): Show c.3924+5239_3924+5328delACTGACTGTTCTAACAGCGCCGGTCT CTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTC TCGCCGGAGCCCCG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	322608	GCGGGGCT others(83): Show GCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0061 a0001c0004t0001g0061	1	87	0.0115	-90	c.392 others(109): Show c.3924+4308_3924+4397delACTGACTGTTCTAACAACACTGGTCT CTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTC TCGCCGGAGCCCCG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	322706	GCGGGGCT others(83): Show GCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0077 a0001c0007t0002g0077	1	88	0.0114	-90	c.392 others(109): Show c.3924+4210_3924+4299delACTGACTGTTCTAACAACACTGGTCT CTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTC TCGCTGGAGCCCCG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	323000	GCGGGGCT others(83): Show GCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02132.hp2 HG02071.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0026 a0001c0001t0001g0027	2	86	0.0233	-90	c.392 others(109): Show c.3924+3916_3924+4005delACTGACTGTTCTAACAGCGCCGGTCT CTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACACTGGTCTC TCGCCGGAGCCCCG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	323147	GCGGGGCT others(83): Show GCGGGGCTCCAGTGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTG CGGGGGTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA20805.hp1 NA18962.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0024 a0001c0004t0003g0048 a0001c0001t0001g0024 a0001c0004t0003g0048	2	82	0.0244	-90	c.392 others(109): Show c.3924+3769_3924+3858delACTGACTGTTCTAACAACGCCGGTCT CTCGCCGGACCCCCGCACCCCCGACTGACTGTTCTAACAACACTGGTCTC TCACTGGAGCCCCG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	480275	GGGTCCAT others(83): Show GGGTCCATGCTCACTGGATAAGACTCATCCACCAGCCTGAGCTCCGGTCC ATGCTCACTGGATGAGGGTCTCATCCACCAGCCTGAGCTCC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0006 a0001c0017 a0001c0006 a0001c0017	a0001c0006t0002 a0001c0017t0002 a0001c0006t0002 a0001c0017t0002	a0001c0006t0002g0035 a0001c0017t0002g0065 a0001c0006t0002g0035 a0001c0017t0002g0065	2	88	0.0227	-90	c.157 others(107): Show c.157+6094_157+6183delGGAGCTCAGGCTGGTGGATGAGACCCTC ATCCAGTGAGCATGGACCGGAGCTCAGGCTGGTGGATGAGTCTTATCCAG TGAGCATGGACC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36						chr10	TogoVar
DIP2C_chr10_269201_694668	532664	GGTGTGAG others(83): Show GGTGTGAGAGAGAGTATGGGTGTGAGAGAGTATGGGTGTGAGAGAGAGTA TGGGTGTGAGAGAGAGTATGGGTGTGAGAGAGAGTATGGGT	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02300.hp2 HG01981.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0042 a0001c0001t0001g0044	2	88	0.0227	-90	c.86- others(107): Show c.86-46224_86-46135delACCCATACTCTCTCTCACACCCATACTC TCTCTCACACCCATACTCTCTCTCACACCCATACTCTCTCACACCCATAC TCTCTCTCACAC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIP2C_chr10_269201_694668	608315	ACACACAC others(83): Show ACACACACAGCCCCTACACACACACAGCCCCCCCACACACCCCCCCACAG CCCCCCCCACACACAGCCCCCCACACACACACCCCCACAGC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01952.hp2 HG02004.hp2 HG00597.hp2 HG01952.hp2 HG02004.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0002 a0001c0008t0001 a0001c0005t0002 a0001c0008t0001	a0001c0005t0002g0015 a0001c0008t0001g0017 a0001c0008t0001g0018 a0001c0005t0002g0015 a0001c0008t0001g0017 a0001c0008t0001g0018	3	77	0.0390	-90	c.85+ others(107): Show c.85+81089_85+81178delGCTGTGGGGGTGTGTGTGTGGGGGGCTG TGTGTGGGGGGGGCTGTGGGGGGGTGTGTGGGGGGGCTGTGTGTGTGTAG GGGCTGTGTGTG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIP2C_chr10_269201_694668	608437	ACACCCCC others(83): Show ACACCCCCCCCACACCCATCCCCCCACACCCACACACACACCCACACACC CCCCCACCCCCCCCACACACACACCCCCCCACACACCCCCC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02004.hp2 NA19074.hp2 HG00597.hp2 HG02004.hp2 NA19074.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0002 a0001c0008t0001 a0001c0005t0002 a0001c0008t0001	a0001c0005t0002g0015 a0001c0005t0002g0016 a0001c0008t0001g0017 a0001c0005t0002g0015 a0001c0005t0002g0016 a0001c0008t0001g0017	3	88	0.0341	-90	c.85+ others(107): Show c.85+80967_85+81056delGGGGGGTGTGTGGGGGGGTGTGTGTGTG GGGGGGGTGGGGGGGTGTGTGGGTGTGTGTGTGGGTGTGGGGGGATGGGT GTGGGGGGGGTG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DLG2_chr11_83450173_85632344	84502202	CCTTCCTT others(83): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	4	0.2500	-90	c.519 others(109): Show c.519+32278_519+32367delAAGAAAGAAAGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAG		DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	7/27						chr11	TogoVar
DLGAP2_chr8_732628_1713476	1039521	TTCAGCTC others(83): Show TTCAGCTCGGTGTGCGTGGTCAGCTTGGTGTGCGTGGTCAGCTTGGTGTG CGTGGTCAGCTCGGTGTGCGTGGTCAGCTTGGTGTGCGTGG	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02818.hp1 HG02698.hp2 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0027 a0002c0004t0018 a0001c0002t0027 a0002c0004t0018	a0001c0002t0027g0023 a0002c0004t0018g0010 a0001c0002t0027g0023 a0002c0004t0018g0010	2	34	0.0588	-90	c.73+ others(109): Show c.73+131580_73+131669delTGGTGTGCGTGGTCAGCTTGGTGTGC GTGGTCAGCTCGGTGTGCGTGGTCAGCTTGGTGTGCGTGGTCAGCTCGGT GTGCGTGGTCAGCT		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1039571	CGTGGTCA others(83): Show CGTGGTCAGCTCGGTGTGCGTGGTCAGCTTGGTGTGCGTGGTCAGCTCGG TGTGCGTGGTCAGCTCGGTGTGCGTGGTCAGCTCGGTGTGG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	40	0.0250	-90	c.73+ others(109): Show c.73+131634_73+131723delTGGTGTGCGTGGTCAGCTCGGTGTGC GTGGTCAGCTCGGTGTGCGTGGTCAGCTCGGTGTGGGTGGTCAGCTCGGT GTGCGTGGTCAGCT		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1255771	TGTGTGTG others(83): Show TGTGTGTGTGTCCTCTCATCCTGCCTGGGTGCTATGTGTGTGTCTTCTCC TGCCCAGGTGCTGTGTGTGTGTCCTCTCCTGCCTGGGTGCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0029 a0002c0001t0005g0029	1	40	0.0250	-90	c.74- others(105): Show c.74-2990_74-2901delCGTGTGTGTGTCCTCTCATCCTGCCTGGGT GCTATGTGTGTGTCTTCTCCTGCCCAGGTGCTGTGTGTGTGTCCTCTCCT GCCTGGGTGC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1351052	GCCGTGCA others(83): Show GCCGTGCAGATCCTGAGTGTGTGTGGAAACACCGTGCGGGTCCTGACTGT GTGTGGAAAGGCCGTGCAGATCCTGAGTGTGTGTGGAAACA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp2 HG03492.hp2 HG02074.hp1 HG02074.hp2 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0001c0002t0009 a0002c0001t0020 a0001c0002t0002 a0001c0002t0009 a0002c0001t0020	a0001c0002t0002g0022 a0001c0002t0009g0039 a0002c0001t0020g0024 a0001c0002t0002g0022 a0001c0002t0009g0039 a0002c0001t0020g0024	3	30	0.1000	-90	c.106 others(109): Show c.106+92176_106+92265delAGATCCTGAGTGTGTGTGGAAACACC GTGCGGGTCCTGACTGTGTGTGGAAAGGCCGTGCAGATCCTGAGTGTGTG TGGAAACACCGTGC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32452396	AAGGGAAA others(83): Show AAGGGAAAGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0051 a0002c0051	a0002c0051t0003 a0002c0051t0003	a0002c0051t0003g0091 a0002c0051t0003g0091	1	93	0.0108	-90	c.360 others(109): Show c.3603+2176_3603+2265delCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC CCTTTCCTTTCCCT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78						chrX	TogoVar
DMRT2_chr9_1045357_1062552	1054794	CAAAAATT others(83): Show CAAAAATTTTTAAGTAGACATTTGGATTCTGTTTTTTTCTTGTGTAGCTT CTGAATTTTGTTGGTTCTGGACAGGTTTGTGTGTGTCCTAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03471.hp1 HG02630.hp2 HG03471.hp1	a0001 a0012 a0001 a0012	a0001c0002 a0012c0014 a0001c0002 a0012c0014	a0001c0002t0004 a0012c0014t0004 a0001c0002t0004 a0012c0014t0004	a0001c0002t0004g0063 a0012c0014t0004g0062 a0001c0002t0004g0063 a0012c0014t0004g0062	2	486	0.0041	-90	c.628 others(107): Show c.628+1048_628+1137delGTGTGTGTCCTATAAAAATTTTTAAGTA GACATTTGGATTCTGTTTTTTTCTTGTGTAGCTTCTGAATTTTGTTGGTT CTGGACAGGTTT		DMRT2	ENSG00000173253.16	transcript	ENST00000358146.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAH9_chr17_11593470_11974748	11711892	ATAAATAT others(83): Show ATAAATATATATATTTGTATATATATTTATATATAAATATATATATTTGT ATATATATTTATATATAAATATATATATTTGTATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp2 HG03195.hp1 HG02717.hp1 HG02976.hp2 HG03195.hp1	a0017 a0046 a0056 a0017 a0046 a0056	a0017c0074 a0046c0087 a0056c0073 a0017c0074 a0046c0087 a0056c0073	a0017c0074t0001 a0046c0087t0001 a0056c0073t0001 a0017c0074t0001 a0046c0087t0001 a0056c0073t0001	a0017c0074t0001g0084 a0046c0087t0001g0120 a0056c0073t0001g0016 a0017c0074t0001g0084 a0046c0087t0001g0120 a0056c0073t0001g0016	3	176	0.0170	-90	c.555 others(109): Show c.5552+6710_5552+6799delAATATATATATTTGTATATATATTTA TATATAAATATATATATTTGTATATATATTTATATATAAATATATATATT TGTATATATATTTA		DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	26/68					INFO_REALIGN_3_PRIME	chr17	TogoVar
DOCK8_chr9_209865_470255	403878	CTCTCTCT others(83): Show CTCTCTCTCTCTCTCTATATATATATATATATATATATACATATATATAT ATGTGTATATATATATGTGTATATATATATATGTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0066 a0001c0066	a0001c0066t0001 a0001c0066t0001	a0001c0066t0001g0006 a0001c0066t0001g0006	1	254	0.0039	-90	c.323 others(108): Show c.3235-1038_3235-949delCTCTCTCTCTCTCTATATATATATATA TATATATATACATATATATATATGTGTATATATATATGTGTATATATATA TATGTATATATAT		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	403888	CTCTCTAT others(83): Show CTCTCTATATATATATATATATATATATACATATATATATATGTGTATAT ATATATGTGTATATATATATATGTATATATATATATATGTG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0039 a0004c0039	a0004c0039t0001 a0004c0039t0001	a0004c0039t0001g0216 a0004c0039t0001g0216	1	246	0.0041	-90	c.323 others(108): Show c.3235-1028_3235-939delCTCTATATATATATATATATATATATA CATATATATATATGTGTATATATATATGTGTATATATATATATGTATATA TATATATATGTGT		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	403904	ATATATAT others(83): Show ATATATATATATACATATATATATATGTGTATATATATATGTGTATATAT ATATATGTATATATATATATATGTGTATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA21309.hp1 NA19240.hp2 NA21309.hp1	a0015 a0023 a0015 a0023	a0015c0064 a0023c0082 a0015c0064 a0023c0082	a0015c0064t0001 a0023c0082t0001 a0015c0064t0001 a0023c0082t0001	a0015c0064t0001g0165 a0023c0082t0001g0082 a0015c0064t0001g0165 a0023c0082t0001g0082	2	210	0.0095	-90	c.323 others(108): Show c.3235-1001_3235-912delCATATATATATATGTGTATATATATAT GTGTATATATATATATGTATATATATATATATGTGTATATATATATATGT GTATATATATATA		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89619155	CCCCCCCG others(83): Show CCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCCTGCCCTCCCTGCTCCCTCCCTGCAGCCCCCTG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	247	0.0040	-90	c.-10 others(109): Show c.-107+5443_-107+5532delGCTCCCCTCCCTGCAGCTCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCTCCCTGCTCCCTCCCTGCA GCCCCCTGCCCCCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619185	CCCCCCCG others(83): Show CCCCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCTCCCTGCTCCCTCCCT GCAGCCCCCTGCCCCCCCACTCCCCTCCCTGCAGCTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA20129.hp2 HG00733.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0005 a0001c0001t0002 a0002c0002t0005	a0001c0001t0002g0172 a0002c0002t0005g0162 a0001c0001t0002g0172 a0002c0002t0005g0162	2	247	0.0081	-90	c.-10 others(109): Show c.-107+5473_-107+5562delGCTCCCCTCCCTGCAGCCCCCCTGCC CTCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCACTCCCCTCCCTGCA GCTCCCTGCCCCCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPH7_chr9_137549444_137583925	137565597	GTGACTCT others(83): Show GTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAA GCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18975.hp2 NA18747.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0185 a0001c0001t0001g0076 a0001c0001t0001g0185	2	337	0.0059	-90	c.641 others(105): Show c.641-533_641-444delTCCAGGGGAGCTTCCTCACAGACAGAGTCA CCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCCTCACA GACAGAGTCA		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137565684	TGGATGAC others(83): Show TGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	309	0.0032	-90	c.641 others(105): Show c.641-620_641-531delCGGGGAGCTTCCTCACAGACAGAGTCACCC AGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCCTCACAGAC AGAGTCATCC		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137565744	TGGGTGAC others(83): Show TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02572.hp1 HG02717.hp2 others(1): Show HG01261.hp2 HG02572.hp1 HG02717.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0153 a0001c0001t0001g0178 a0001c0001t0001g0014 a0001c0001t0001g0153 a0001c0001t0001g0178	4	316	0.0127	-90	c.641 others(105): Show c.641-680_641-591delCGGGGAGCTTCCTCACAGACAGAGTCACCC CGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGCTTCCTCACAGAC AGAGTCACCC		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137566307	CTGTCTGT others(83): Show CTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCC CTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03942.hp2 HG02015.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0211 a0001c0001t0001g0123 a0001c0001t0001g0211	2	306	0.0065	-90	c.641 others(107): Show c.641-1243_641-1154delCAGTCACCCAGGGGAGCTTCCTCACAGA CAGAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCT TCCTCACAGACA		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137566334	ACTCTGTC others(83): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03669.hp2 HG00639.hp1 HG03669.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0127 a0006c0008t0001g0054 a0001c0001t0001g0127 a0006c0008t0001g0054	2	329	0.0061	-90	c.641 others(107): Show c.641-1270_641-1181delAGTCACCCAGGGGAGCTTCCTCACAGAC AGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCC TCACAGACAGAG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567018	ACTCTGTC others(83): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	237	0.0042	-90	c.641 others(107): Show c.641-1954_641-1865delAGTCACCCAGGGGAGCTTCCTCACAGAC AGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGCTTCC TCACAGACAGAG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567312	ACTCTGTC others(83): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	269	0.0037	-90	c.641 others(107): Show c.641-2248_641-2159delAGTCACCCAGGGGAGCTTCCTCACAGAC AGAGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCC TCACAGACAGAG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567636	ACTGTCTG others(83): Show ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCC CCGGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02559.hp2 HG00597.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0190 a0001c0001t0003g0247 a0001c0001t0001g0190 a0001c0001t0003g0247	2	311	0.0064	-90	c.641 others(107): Show c.641-2572_641-2483delAGTCACCCCGGGGAGCTTCCTCACGGAC AGAGTCACCCCGGGGAGCTTCCTCACGGACAGAGTCACCCAGGGGAGCTT CCTCACAGACAG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPP9_chr19_4670227_4728842	4671880	TATATATA others(83): Show TATATATATATTCATATATTCACATATGTGAATATATATATTCATATATT CACATATGTGAATATATATATTCATATATTCACATATGTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01884.hp1 HG02132.hp2 others(13): Show HG00609.hp2 HG01884.hp1 HG02132.hp2 HG03486.hp1 NA18944.hp1 NA18946.hp2 NA18954.hp1 NA18967.hp2 NA18973.hp2 NA18982.hp1 NA18984.hp1 NA19005.hp1 NA19064.hp2 NA19074.hp1 NA19083.hp1 NA19086.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0007 a0010c0008 a0001c0001 a0001c0007 a0010c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0007t0003 a0010c0008t0003	a0001c0001t0001g0167 a0001c0001t0003g0058 a0001c0001t0003g0084 others(13): Show a0001c0001t0001g0167 a0001c0001t0003g0058 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0113 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0150 a0001c0001t0003g0214 a0001c0001t0012g0060 a0001c0007t0003g0166 a0010c0008t0003g0070	16	311	0.0514	-90	c.45 others(101): Show c.4594_*4683delTCACATATGTGAATATATGAATATATATATTCAC ATATGTGAATATATGAATATATATATTCACATATGTGAATATATGAATAT ATATAT		DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding					3346		chr19	TogoVar
DPYD_chr1_97072743_97926034	97130751	CCCTTCCT others(83): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCCTCTCT CCCTCTTTCTTTCTTTCTTCCTTTCTTTCTTCTTTCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	28	0.0357	-90	c.262 others(111): Show c.2623-32209_2623-32120delAAGGAGAAAGAAGAAAGAAAGGAA GAAAGAAAGAAAGAGGGAGAGAGGGAAGGAGGGAAGGAAAGGAAGGAAGG AAGGAAGGAAGGAAGG		DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22						chr1	TogoVar
DSPP_chr4_87603529_87621873	87615893	CAGCAGTG others(83): Show CAGCAGTGATAGCAGTGAAAGCAGTGATAGCAGTGACAGCAGCAATAGCA GTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02897.hp2 HG02897.hp2	a0029 a0029	a0029c0060 a0029c0060	a0029c0060t0001 a0029c0060t0001	a0029c0060t0001g0029 a0029c0060t0001g0029	1	448	0.0022	-90	c.324 others(99): Show c.3240_3329delTAGCAGTGAAAGCAGTGATAGCAGTGACAGCAGCAA TAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCA GTGA	p.Ser others(15): Show p.Ser1081_Asp1110del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3360/4331	3240/3906	1080/1301		INFO_REALIGN_3_PRIME	chr4	TogoVar
DUXA_chr19_57149021_57172485	57171956	GCTGGGGT others(83): Show GCTGGGGTCCGGGGAGCGCGAGCGGGGGTCCGGGGGGCGGGGGCCGCGGG CCGCGAGGGGGGCGGGGGCCGCGAGGGGGCGGGGCGTGCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00673.hp1 others(12): Show HG00140.hp1 HG00323.hp1 HG00673.hp1 HG01517.hp1 HG02074.hp1 HG02083.hp1 HG02683.hp1 NA18939.hp1 NA18962.hp1 NA18971.hp1 NA18989.hp2 NA19002.hp2 NA19064.hp1 NA19070.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0044 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0002g0009 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0057	15	443	0.0339	-90	c.-46 others(101): Show c.-4603_-4514delTCGCACGCCCCGCCCCCTCGCGGCCCCCGCCCCC CTCGCGGCCCGCGGCCCCCGCCCCCCGGACCCCCGCTCGCGCTCCCCGGA CCCCAG		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					4472		chr19	TogoVar
ECI2_chr6_4110706_4140575	4135584	GGGGGCTC others(83): Show GGGGGCTCGGGGGTGGGGCCGGGTCTCGGGGGCGGGGCCTAGCTCGGTCT GCGGGGGCTCGGGGGTGGGGCCGGGTCTCGGGGGTGGAGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0068 a0006c0009t0001g0068	1	368	0.0027	-90	c.-11 others(98): Show c.-114_-25delGGCTCCACCCCCGAGACCCGGCCCCACCCCCGAGCCC CCGCAGACCGAGCTAGGCCCCGCCCCCGAGACCCGGCCCCACCCCCGAGC CCC		ECI2	ENSG00000198721.13	transcript	ENST00000380118.8	protein_coding					10		chr6	TogoVar
ECI2_chr6_4110706_4140575	4135588	GCTCGGGG others(83): Show GCTCGGGGGTGGGGCCGGGTCTCGGGGGCGGGGCCTAGCTCGGTCTGCGG GGGCTCGGGGGTGGGGCCGGGTCTCGGGGGTGGAGCCGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02922.hp1 HG02486.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0070 a0002c0002t0001g0069 a0001c0001t0001g0070 a0002c0002t0001g0069	2	368	0.0054	-90	c.-11 others(98): Show c.-118_-29delTCCCGGCTCCACCCCCGAGACCCGGCCCCACCCCCGA GCCCCCGCAGACCGAGCTAGGCCCCGCCCCCGAGACCCGGCCCCACCCCC GAG		ECI2	ENSG00000198721.13	transcript	ENST00000380118.8	protein_coding					14		chr6	TogoVar

Search by Variant

Search

Search Results