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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CSMD1_chr8_2930361_4999914	4920877	AAAAGAAA others(66): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAGAGAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0109 a0001c0006t0002g0109	1	126	0.0079	-73	c.85+ others(90): Show c.85+73382_85+73454delCTTTCTTTCTTTCTTTCTCTCTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CYTH2_chr19_48464369_48487314	48483304	GGGAGTCC others(66): Show GGGAGTCCAGGCTTCAGCCCCTCCTCCCTCACACCCGGGAGTCCAGGCCC CCAGCCCCTCCTCCCTGAGACCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02976.hp1 HG02723.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0022 a0001c0001t0024g0022	2	366	0.0055	-73	c.40 others(84): Show c.4095_*4167delGGAGTCCAGGCTTCAGCCCCTCCTCCCTCACACC CGGGAGTCCAGGCCCCCAGCCCCTCCTCCCTGAGACCCA	CYTH2	ENSG00000105443.17	transcript	ENST00000452733.7	protein_coding		991		chr19	TogoVar
DACH2_chrX_86143451_86837602	86470037	TTTCATTG others(66): Show TTTCATTGATATTCTGCTGTGGCACTGTTAATCTTATTTTGATTGAAACA GAGTTCTGGACAGTAAAATTGATG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01884.hp1 HG02145.hp1 others(16): Show HG00738.hp1 HG01884.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02896.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0024 others(16): Show a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0002g0138 a0001c0001t0002g0163	19	166	0.1145	-73	c.528 others(92): Show c.528-44241_528-44169delTTCATTGATATTCTGCTGTGGCACTG TTAATCTTATTTTGATTGAAACAGAGTTCTGGACAGTAAAATTGATG	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	2/11			chrX	TogoVar
DACT2_chr6_168301904_168324777	168321850	TCTTCCTC others(66): Show TCTTCCTCTTCCTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0133 a0004c0006t0003g0133	1	476	0.0021	-73	c.-22 others(84): Show c.-2290_-2218delGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAGGAAGAGGAAG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding		2074		chr6	TogoVar
DDX51_chr12_132131594_132149319	132136255	CGCTCCTC others(66): Show CGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACC TCCCGAGTGTGCCCACGGTGCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0005	1	334	0.0030	-73	c.29 others(84): Show c.2944_*3016delCGGGCACCGTGGGCACACTCGGGAGGTGGGAGGT AGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		338		chr12	TogoVar
DDX60_chr4_168211294_168323752	168297269	AAAAGAAA others(66): Show AAAAGAAAGAAAGAAAGAGAGAGAGAGACGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	270	0.0037	-73	c.724 others(90): Show c.724-3397_724-3325delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCGTCTCTCTCTCTCTTTCTTTCTTTCTTT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	6/37			chr4	TogoVar
DHRS12_chr13_51762993_51809163	51776025	CCTACATG others(66): Show CCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCC TACATGTATTCTCCTACATGTATT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0270 a0005c0008t0002g0270	1	420	0.0024	-73	c.363 others(89): Show c.363+962_363+1034delAATACATGTAGGAGAATACATGTAGGAGA ATACTGTAGAATACATGTAGGAGAATACTGTAGAATACATGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51776087	CCTACATG others(66): Show CCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCC TACATGTATTCTCCTACATGTATT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp1 HG01255.hp2 others(9): Show HG01106.hp1 HG01109.hp1 HG01255.hp2 HG01261.hp2 HG01496.hp2 HG01975.hp1 HG01993.hp2 HG02148.hp1 HG03130.hp1 HG03195.hp1 HG03688.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0002 a0002c0002t0003g0050 a0002c0002t0003g0074 others(7): Show a0002c0002t0003g0002 a0002c0002t0003g0050 a0002c0002t0003g0074 a0002c0002t0003g0157 a0002c0002t0003g0158 a0002c0002t0003g0159 a0002c0002t0003g0228 a0002c0002t0003g0255 a0002c0002t0003g0320 a0002c0002t0003g0324	12	420	0.0286	-73	c.363 others(88): Show c.363+900_363+972delAATACATGTAGGAGAATACATGTAGGAGAA TACTGTAGAATACATGTAGGAGAATACTGTAGAATACATGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIP2B_chr12_50499985_50753657	50579629	AAAAAAAA others(66): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0243 a0001c0002t0040g0243	1	284	0.0035	-73	c.101 others(92): Show c.101-46345_101-46273delAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATATATATATATATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DLG2_chr11_83450173_85632344	85492691	GGGTATAT others(66): Show GGGTATATTTGGGATGGTCTGACTTAAAATATAGGTTACATGGCACACTA AAATTCATGGAGTGTCCCTAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18906.hp2 HG01884.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0003 a0001c0001t0011g0013 a0001c0001t0003g0003 a0001c0001t0011g0013	2	14	0.1429	-73	c.40+ others(92): Show c.40+105893_40+105965delTCCCTAGGGACACTCCATGAATTTTA GTGTGCCATGTAACCTATATTTTAAGTCAGACCATCCCAAATATACC	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	3/27			chr11	TogoVar
DLGAP2_chr8_732628_1713476	1513244	AGACGAGA others(66): Show AGACGAGAGAGGCCACAGGCCAGCTCCAGGGAGGCTCGGTGGGATAAGCG TCTGCCTTTCCCAGTGCAAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0005 a0001c0002t0023g0005	1	40	0.0250	-73	c.172 others(92): Show c.172+11818_172+11890delAGAGAGGCCACAGGCCAGCTCCAGGG AGGCTCGGTGGGATAAGCGTCTGCCTTTCCCAGTGCAAGGGAGGACG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMRT1_chr9_836697_974090	861781	TTCCCAGA others(66): Show TTCCCAGACGGGGCGGCTGCCGGGCGGGGGGGGGCTCCTTCAGACGGGGC GGCCGGTCAGAGACGCTCCTCACC	T T	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0007 a0002c0002t0005g0007	1	306	0.0033	-73	c.538 others(92): Show c.538+14651_538+14723delCGGCTGCCGGGCGGGGGGGGGCTCCT TCAGACGGGGCGGCCGGTCAGAGACGCTCCTCACCTCCCAGACGGGG	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAAF3_chr19_55153665_55171613	55159760	CTGAGGGA others(66): Show CTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGG GGCTGGGGGCCTGGACTCCTGGGT	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0083 a0003c0002t0001g0083	1	398	0.0025	-73	c.116 others(89): Show c.1163+66_1163+138delACCCAGGAGTCCAGGCCCCCAGCCCCTCC TTGCTTAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCTCCCTCA	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding	10/11			chr19	TogoVar
DSCAML1_chr11_117422772_117802216	117769479	TAATATAT others(66): Show TAATATATATTTTATATATATAATATATATTTTATATATATTATATATAT TTTATATATATTATATATTTTATA	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0172 a0002c0001t0003g0172	1	194	0.0052	-73	c.511 others(90): Show c.511+7239_511+7311delTATAAAATATATAATATATATAAAATAT ATATAATATATATAAAATATATATTATATATATAAAATATATATT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
EHMT1_chr9_137614005_137841127	137818709	GGCGCCGT others(66): Show GGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTAC CGAGACTGTAGAGAGGCCGACTTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	170	0.0059	-73	c.354 others(90): Show c.3540+573_3540+645delCGCCGTGTACCGAGACCGTAGAGAGGCC GATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
ELFN2_chr22_37362960_37432479	37394789	CCGACCTT others(66): Show CCGACCTTACAGGGTGTCAAGATAAAGATCGTCAGGCCAGGCGCAATGGC TCACGCCTGTAATCCCAACACTTT	C C	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0004 a0005c0014t0004	a0005c0014t0004g0032 a0005c0014t0004g0032	1	334	0.0030	-73	c.-46 others(94): Show c.-462-18866_-462-18794delAAAGTGTTGGGATTACAGGCGTGA GCCATTGCGCCTGGCCTGACGATCTTTATCTTGACACCCTGTAAGGTCG	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding	2/2			chr22	TogoVar
EML6_chr2_54718662_54977025	54907900	TTAGATAG others(66): Show TTAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAAGA TAGATAGATAGATAGATAGATAGA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01361.hp2 HG01496.hp1 others(3): Show HG01257.hp1 HG01361.hp2 HG01496.hp1 HG02257.hp2 HG06807.hp1 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0005c0031	a0001c0001t0008 a0001c0002t0001 a0001c0003t0002 others(3): Show a0001c0001t0008 a0001c0002t0001 a0001c0003t0002 a0001c0009t0005 a0001c0009t0008 a0005c0031t0053	a0001c0001t0008g0112 a0001c0002t0001g0234 a0001c0003t0002g0240 others(3): Show a0001c0001t0008g0112 a0001c0002t0001g0234 a0001c0003t0002g0240 a0001c0009t0005g0205 a0001c0009t0008g0133 a0005c0031t0053g0165	6	264	0.0227	-73	c.341 others(92): Show c.3410-3023_3410-2951delGATAGATAGATAGATAAGATAGATAG ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
ENOSF1_chr18_665318_717630	666974	GAGATGGA others(66): Show GAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGA GATGGTGATGGAGATGGTGATGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	418	0.0024	-73	c.72 others(84): Show c.7258_*7330delACCATCACCATCTCCATCACCATCTCCATCTCCA TCACCATCACCATCTCCATCACCATCACCATCTCCATCT	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3343		chr18	TogoVar
ENOSF1_chr18_665318_717630	666992	GTGATGGA others(66): Show GTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGT GATGGTGATGGAGATGGAGATGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18981.hp2 NA18982.hp2 others(3): Show NA18972.hp2 NA18981.hp2 NA18982.hp2 NA19065.hp1 NA19076.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0050 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0164 a0001c0001t0002g0200	6	418	0.0144	-73	c.72 others(84): Show c.7240_*7312delACCATCTCCATCTCCATCACCATCACCATCTCCA TCACCATCTCCATCTCCATCACCATCACCATCTCCATCA	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3325		chr18	TogoVar
ENOSF1_chr18_665318_717630	667544	TGGTGATG others(66): Show TGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATG GTGATGGTGATGGTGATGGAGATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0004 a0004c0008t0004	a0004c0008t0004g0381 a0004c0008t0004g0381	1	418	0.0024	-73	c.66 others(84): Show c.6688_*6760delCATCTCCATCACCATCACCATCACCATCACCATC ACCATCACCATCTCCATCACCATCACCATCTCCATCACC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2773		chr18	TogoVar
ENTPD8_chr9_137429364_137446357	137441146	CCCCCCCA others(66): Show CCCCCCCAGACCAGGACAGCCCCCCAGACCAGGACAGCCCCCCCAGACCA GGACAGCCCCCCAGACCAGGACAG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0154 a0001c0001t0005g0154	1	392	0.0026	-73	c.-21 others(87): Show c.-21+67_-21+139delCTGTCCTGGTCTGGGGGGCTGTCCTGGTCTG GGGGGGCTGTCCTGGTCTGGGGGGCTGTCCTGGTCTGGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ERBB4_chr2_211370717_212543802	211835318	TGGTTCTC others(66): Show TGGTTCTCTACCATGCCATTTTTCTGCCTCCAGTATGAGTTAGCCACAAG GACTCTCTACATAAAACCACTCTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02922.hp1 others(7): Show HG01891.hp1 HG02145.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03834.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0014 a0001c0001t0026 a0001c0002t0001 a0001c0002t0016 a0001c0004t0021	a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0002g0016 others(7): Show a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0002g0016 a0001c0001t0012g0001 a0001c0001t0014g0007 a0001c0001t0026g0052 a0001c0002t0001g0020 a0001c0002t0001g0036 a0001c0002t0016g0019 a0001c0004t0021g0009	10	56	0.1786	-73	c.422 others(92): Show c.422-47232_422-47160delCAGAGTGGTTTTATGTAGAGAGTCCT TGTGGCTAACTCATACTGGAGGCAGAAAAATGGCATGGTAGAGAACC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERFL_chr19_41902704_41933449	41914791	GTCTCTGT others(66): Show GTCTCTGTCTCTCCCTCCCCCTCCACCGTGTCTCCCCCCCTTTCCACCGT CTCTGTCTCTCCCCCCCTCCACCA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18990.hp1 HG02074.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0152 a0001c0001t0001g0032 a0001c0001t0001g0152	2	330	0.0061	-73	c.-13 others(90): Show c.-13-1932_-13-1860delTGGTGGAGGGGGGGAGAGACAGAGACGG TGGAAAGGGGGGGAGACACGGTGGAGGGGGAGGGAGAGACAGAGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERICH5_chr8_98059568_98098609	98073472	ATATATAT others(66): Show ATATATATATATATGTATATATATATATATATATATATATATATGTATAT ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	442	0.0023	-73	c.58+ others(88): Show c.58+8746_58+8818delTATATATATATATGTATATATATATATATA TATATATATATATGTATATATATATATATATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2			chr8	TogoVar
ETS2_chr21_38800929_38829955	38815984	AAGGAAGG others(66): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAAGGAAGGAA GGAAAGAAAGAGGGAGGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02965.hp1 NA18522.hp1 HG02109.hp1 HG02965.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0060 a0001c0001t0003g0071 a0001c0001t0005g0322 a0001c0001t0003g0060 a0001c0001t0003g0071 a0001c0001t0005g0322	3	426	0.0070	-73	c.505 others(89): Show c.505+1004_506-951delAGGAAGGAAGGAAGGAAGGAAGGAAGGAG GGAGGGAGGGAAGGAAGGAAGGAAAGAAAGAGGGAGGGAGGGAG	ETS2	ENSG00000157557.13	transcript	ENST00000360938.8	protein_coding	5/9			chr21	TogoVar
ETS2_chr21_38800929_38829955	38815985	AGGAAGGA others(66): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAAGGAAGGAAG GAAAGAAAGAGGGAGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19078.hp1 HG03041.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0002 a0001c0001t0012 a0001c0002t0002	a0001c0001t0012g0319 a0001c0002t0002g0246 a0001c0001t0012g0319 a0001c0002t0002g0246	2	426	0.0047	-73	c.505 others(89): Show c.505+1008_506-947delAGGAAGGAAGGAAGGAAGGAAGGAGGGAG GGAGGGAAGGAAGGAAGGAAAGAAAGAGGGAGGGAGGGAGGGGA	ETS2	ENSG00000157557.13	transcript	ENST00000360938.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
EXOC3L4_chr14_103089725_103115559	103109615	TCCTCCCT others(66): Show TCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCT CCACCCTGCCCCCATGTCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01516.hp2 HG02273.hp1 others(2): Show HG01255.hp1 HG01516.hp2 HG02273.hp1 HG02738.hp1 HG04204.hp1	a0004 a0025 a0004 a0025	a0004c0002 a0004c0010 a0025c0046 a0004c0002 a0004c0010 a0025c0046	a0004c0002t0003 a0004c0010t0003 a0025c0046t0002 a0004c0002t0003 a0004c0010t0003 a0025c0046t0002	a0004c0002t0003g0042 a0004c0002t0003g0077 a0004c0002t0003g0084 others(2): Show a0004c0002t0003g0042 a0004c0002t0003g0077 a0004c0002t0003g0084 a0004c0010t0003g0287 a0025c0046t0002g0286	5	404	0.0124	-73	c.197 others(90): Show c.1977-394_1977-322delCCCCCATGTCTCCCTCCTCCCTCCCTCT CCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTG	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EZR_chr6_158760748_158824368	158803594	TATATATA others(66): Show TATATATATATACATATATATATATATATATACATATACATACATATATA TATATATATACATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0300 a0001c0001t0009g0300	1	312	0.0032	-73	c.13- others(90): Show c.13-14296_13-14224delTATATATATATATGTATATATATATATA TATGTATGTATATGTATATATATATATATATATGTATATATATAT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
FAM120AOS_chr9_93438332_93458581	93451376	GCGGCCTC others(66): Show GCGGCCTCTCTGGCCCTGCCGGGAACAGGGCGCAGGGGAGGGGAGCGGCG GCCGACCGGCCTGAGGCGGGCGAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01255.hp1 HG02015.hp2 others(7): Show HG00438.hp2 HG01255.hp1 HG02015.hp2 HG02129.hp1 HG02818.hp1 NA18522.hp1 NA18939.hp2 NA18972.hp1 NA18980.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0028 a0001c0001t0006 a0001c0001t0012 a0001c0001t0028	a0001c0001t0006g0016 a0001c0001t0006g0073 a0001c0001t0012g0072 others(1): Show a0001c0001t0006g0016 a0001c0001t0006g0073 a0001c0001t0012g0072 a0001c0001t0028g0024	10	422	0.0237	-73	c.563 others(88): Show c.563+698_563+770delTTCGCCCGCCTCAGGCCGGTCGGCCGCCGC TCCCCTCCCCTGCGCCCTGTTCCCGGCAGGGCCAGAGAGGCCG	FAM120AOS	ENSG00000188938.17	transcript	ENST00000375412.11	protein_coding	1/2			chr9	TogoVar
FAM120A_chr9_93446685_93571112	93451376	GCGGCCTC others(66): Show GCGGCCTCTCTGGCCCTGCCGGGAACAGGGCGCAGGGGAGGGGAGCGGCG GCCGACCGGCCTGAGGCGGGCGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02015.hp1 HG02129.hp1 others(6): Show HG00438.hp2 HG02015.hp1 HG02129.hp1 HG02818.hp2 NA18522.hp1 NA18939.hp2 NA18972.hp2 NA18980.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0005 a0001c0004t0005 a0001c0010t0005 a0001c0001t0005 a0001c0004t0005 a0001c0010t0005	a0001c0001t0005g0289 a0001c0001t0005g0292 a0001c0001t0005g0294 others(6): Show a0001c0001t0005g0289 a0001c0001t0005g0292 a0001c0001t0005g0294 a0001c0004t0005g0290 a0001c0004t0005g0291 a0001c0004t0005g0293 a0001c0004t0005g0295 a0001c0004t0005g0296 a0001c0010t0005g0288	9	318	0.0283	-73	c.-53 others(82): Show c.-539_-467delCGGCCTCTCTGGCCCTGCCGGGAACAGGGCGCAGGG GAGGGGAGCGGCGGCCGACCGGCCTGAGGCGGGCGAA	FAM120A	ENSG00000048828.18	transcript	ENST00000277165.11	protein_coding		308		chr9	TogoVar
FAM174B_chr15_92612448_92660775	92631216	TTATATTA others(66): Show TTATATTATATATAATATATTATATATTATATTATATATAATATATTATA TATTATATTATATATAATATATTA	T T	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19079.hp1 NA19001.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0168 a0001c0001t0005g0210 a0001c0001t0002g0168 a0001c0001t0005g0210	2	394	0.0051	-73	c.345 others(88): Show c.345-944_345-872delTAATATATTATATATAATATAATATATAAT ATATTATATATAATATAATATATAATATATTATATATAATATA	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM174B_chr15_92612448_92660775	92631276	TATATAAT others(66): Show TATATAATATATTATATATTATATATAATATATTATATATAATATTATAT ATAATATATTATATATTATATATA	T T	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	394	0.0025	-73	c.345 others(89): Show c.345-1004_345-932delTATATATAATATATAATATATTATATATA ATATTATATATAATATATTATATATAATATATAATATATTATAT	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM227B_chr15_49321970_49625818	49489818	TATTTTAT others(66): Show TATTTTATATATATATATATATTTTATATATATATATATATTTTATATAT ATATATATATATATATAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0261 a0001c0001t0022g0261	1	294	0.0034	-73	c.101 others(94): Show c.1012+18320_1012+18392delCTCTCTCTATATATATATATATAT ATATATAAAATATATATATATATATAAAATATATATATATATATAAAAT	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FBLN1_chr22_45497883_45606135	45591854	GTCCTGCA others(66): Show GTCCTGCACGCCATTTTGCAGACAGGAGGGAGGAAGTGTCCTGCGCGCCA TTTTGCAGACAGGAGGGAGGAAGT	G G	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	346	0.0029	-73	c.197 others(92): Show c.1973-8452_1973-8380delTCCTGCACGCCATTTTGCAGACAGGA GGGAGGAAGTGTCCTGCGCGCCATTTTGCAGACAGGAGGGAGGAAGT	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	16/16			chr22	TogoVar
FGF7_chr15_49418242_49493775	49489818	TATTTTAT others(66): Show TATTTTATATATATATATATATTTTATATATATATATATATTTTATATAT ATATATATATATATATAGAGAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0182 a0001c0001t0007g0182	1	358	0.0028	-73	c.53 others(84): Show c.5315_*5387delATTTTATATATATATATATATTTTATATATATAT ATATATTTTATATATATATATATATATATATAGAGAGAG	FGF7	ENSG00000140285.12	transcript	ENST00000267843.9	protein_coding		1044		chr15	TogoVar
FNDC11_chr20_63549159_63561695	63557818	TGCCCTCC others(66): Show TGCCCTCCCCACGCTCCTGCGCCCAGCGCTCTGCAGTGGGCCCTCGACGG CCTCCACGGCCGCGTCCCAAAACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG03239.hp2 HG01256.hp2 HG01258.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0001t0001g0001 a0001c0002t0001g0002	3	416	0.0072	-73	c.11 others(84): Show c.1199_*1271delGCCCTCCCCACGCTCCTGCGCCCAGCGCTCTGCA GTGGGCCCTCGACGGCCTCCACGGCCGCGTCCCAAAACC	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding		1124		chr20	TogoVar
FNDC11_chr20_63549159_63561695	63557832	TCCTGCGC others(66): Show TCCTGCGCCCAGCGCTCTGCAGTGGGCCCTCGACGGCCTCCACGGCCGCG TCCCAAAACCGCCCTCCCCACGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01071.hp1 others(30): Show HG00280.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01952.hp1 HG01978.hp1 HG02004.hp2 HG02148.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 NA18942.hp2 NA18947.hp1 NA18948.hp2 NA18957.hp1 NA18965.hp2 NA18973.hp1 NA18982.hp1 NA19057.hp1 NA19091.hp2 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0014 a0001c0001 a0001c0002 a0006c0014	a0001c0001t0001 a0001c0002t0001 a0006c0014t0001 a0001c0001t0001 a0001c0002t0001 a0006c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0002t0001g0002 a0001c0002t0001g0008 a0006c0014t0001g0003	33	416	0.0793	-73	c.12 others(84): Show c.1213_*1285delCCTGCGCCCAGCGCTCTGCAGTGGGCCCTCGACG GCCTCCACGGCCGCGTCCCAAAACCGCCCTCCCCACGCC	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding		1138		chr20	TogoVar
FRK_chr6_115926149_116065891	115958692	GAAAGAAA others(66): Show GAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG01361.hp2 others(10): Show HG00408.hp2 HG00642.hp2 HG01361.hp2 HG02080.hp2 HG02132.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG04199.hp1 NA18970.hp2 NA19083.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0066 a0002c0002t0001 a0002c0002t0004 a0002c0002t0055 a0003c0003t0004	a0001c0001t0001g0122 a0001c0001t0001g0187 a0001c0001t0010g0202 others(10): Show a0001c0001t0001g0122 a0001c0001t0001g0187 a0001c0001t0010g0202 a0001c0001t0010g0256 a0001c0001t0011g0249 a0001c0001t0066g0201 a0002c0002t0001g0015 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0127 a0002c0002t0004g0041 a0002c0002t0055g0100 a0003c0003t0004g0164	13	274	0.0475	-73	c.800 others(90): Show c.800-2155_800-2083delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTT	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	4/7			chr6	TogoVar
FRMD4B_chr3_69163782_69391088	69314154	AAAAAAAA others(66): Show AAAAAAAAAAAAAAAAAAAAGCCTCTCCATCCCAGAGGAAACTACTATAT TTTTCCTGGAATTAATGTTTTATT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0197 a0003c0003t0001g0197	1	224	0.0045	-73	c.163 others(88): Show c.163-710_163-638delAATAAAACATTAATTCCAGGAAAAATATAG TAGTTTCCTCTGGGATGGAGAGGCTTTTTTTTTTTTTTTTTTT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	1/22			chr3	TogoVar
FSHR_chr2_48957157_49159515	49127825	TCTTCCTC others(66): Show TCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA19068.hp2 HG02602.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0344 a0001c0001t0001g0169 a0001c0001t0001g0344	2	350	0.0057	-73	c.152 others(92): Show c.152+26368_152+26440delGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAG	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49127826	CTTCCTCT others(66): Show CTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02922.hp2 HG02615.hp2 HG02922.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0156 a0003c0003t0003g0160 a0003c0003t0003g0156 a0003c0003t0003g0160	2	350	0.0057	-73	c.152 others(92): Show c.152+26367_152+26439delAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9			chr2	TogoVar
FTCD_chr21_46131779_46160579	46142276	GAGCTCTT others(66): Show GAGCTCTTACAGGTGGCGCGTCGGGAGCTGTTTCTTCCTCCCGGTGAGGC CGCAGACCTTCACAGTGAGCCATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18943.hp1 NA18944.hp2 others(3): Show HG00323.hp1 NA18943.hp1 NA18944.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0009	a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 a0001c0003t0005 a0002c0009t0003	a0001c0001t0001g0035 a0001c0002t0002g0061 a0001c0002t0009g0046 others(3): Show a0001c0001t0001g0035 a0001c0002t0002g0061 a0001c0002t0009g0046 a0001c0003t0005g0213 a0001c0003t0005g0215 a0002c0009t0003g0068	6	230	0.0261	-73	c.126 others(92): Show c.1260+3068_1260+3140delTATGGCTCACTGTGAAGGTCTGCGGC CTCACCGGGAGGAAGAAACAGCTCCCGACGCGCCACCTGTAAGAGCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46142347	ATAAGCTC others(66): Show ATAAGCTCTTACAGGTGGCGCGTCGGGAGCTGTTTCTTCCTCCCCGTGAG GCCGCCGACCTTCACAGTGAGCGT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0212 a0001c0003t0005g0212	1	230	0.0044	-73	c.126 others(92): Show c.1260+2997_1260+3069delACGCTCACTGTGAAGGTCGGCGGCCT CACGGGGAGGAAGAAACAGCTCCCGACGCGCCACCTGTAAGAGCTTA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GALNT9_chr12_132191372_132334589	132299359	GATAACTA others(66): Show GATAACTAACCCACTCCCACCACACCTAACCCATCCCTGAGATGACCAAC CCATTCCTGAGATAACTCACTCCC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02976.hp1 HG01167.hp1 HG02976.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0074 a0001c0014t0003g0153 a0001c0014t0003g0074 a0001c0014t0003g0153	2	183	0.0109	-73	c.239 others(92): Show c.239-13002_239-12930delGGGAGTGAGTTATCTCAGGAATGGGT TGGTCATCTCAGGGATGGGTTAGGTGTGGTGGGAGTGGGTTAGTTAT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132299763	TCCCTGAG others(66): Show TCCCTGAGATGACCAACCCACTCCTGAGATAACTCACTCCCATAACTAAC CCACTCCCACCACACCTAACCCAC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0097 a0001c0006t0001g0097	1	183	0.0055	-73	c.239 others(92): Show c.239-13406_239-13334delGTGGGTTAGGTGTGGTGGGAGTGGGT TAGTTATGGGAGTGAGTTATCTCAGGAGTGGGTTGGTCATCTCAGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GGT5_chr22_24214660_24250082	24238792	TATTTATA others(66): Show TATTTATATATATATAATATATTATATATATATATATATATTTATATATA TATATTATATATATTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01123.hp2 HG01192.hp2 others(11): Show HG00639.hp2 HG01123.hp2 HG01192.hp2 HG01978.hp1 HG01981.hp2 HG02129.hp1 NA18939.hp1 NA18947.hp2 NA18982.hp1 NA19003.hp2 NA19007.hp1 NA19077.hp2 NA19089.hp2 NA19091.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0018 a0002c0002 a0010c0018	a0002c0002t0001 a0010c0018t0001 a0002c0002t0001 a0010c0018t0001	a0002c0002t0001g0005 a0002c0002t0001g0020 a0002c0002t0001g0297 others(8): Show a0002c0002t0001g0005 a0002c0002t0001g0020 a0002c0002t0001g0297 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0333 a0002c0002t0001g0334 a0010c0018t0001g0298	14	420	0.0333	-73	c.174 others(90): Show c.174-4861_174-4789delTATATATATAATATATATAATATATATA TATAAATATATATATATATATATAATATATTATATATATATAAAT	GGT5	ENSG00000099998.19	transcript	ENST00000327365.10	protein_coding	1/11			chr22	TogoVar
GLB1L3_chr11_134271379_134324564	134308262	CCACCACC others(66): Show CCACCACCACCACCACCACCAAATACCACCACCACCACCACCACCACCAC TACCACCACCATCACCATCACCAT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02165.hp2 NA18522.hp2 others(1): Show HG02080.hp2 HG02165.hp2 NA18522.hp2 NA19007.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0004 a0009c0019 a0001c0001 a0002c0004 a0009c0019	a0001c0001t0001 a0002c0004t0001 a0009c0019t0001 a0001c0001t0001 a0002c0004t0001 a0009c0019t0001	a0001c0001t0001g0024 a0002c0004t0001g0234 a0009c0019t0001g0236 a0001c0001t0001g0024 a0002c0004t0001g0234 a0009c0019t0001g0236	4	422	0.0095	-73	c.961 others(90): Show c.961+1060_961+1132delCCACCACCACCACCAAATACCACCACCA CCACCACCACCACCACTACCACCACCATCACCATCACCATCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GMDS_chr6_1618806_2250605	1745363	TGGGTCAC others(66): Show TGGGTCACTTGGAGAAACTTGACTGTTGGCTACTGGTGGGTCACTTGGAG AAACATGACTGTTGGCTACTGGTG	T T	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	166	0.0060	-73	c.772 others(90): Show c.772-2850_772-2778delCACCAGTAGCCAACAGTCATGTTTCTCC AAGTGACCCACCAGTAGCCAACAGTCAAGTTTCTCCAAGTGACCC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMEB2_chr20_63582605_63632101	63585237	GCAGGAAC others(66): Show GCAGGAACCTCAGTCATTGCAGGTGAGGACGTGGAGCAGGAACCTCAGTC ATTGCAGGTGAGGACGTAGAGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0038 a0001c0007t0007g0038	1	330	0.0030	-73	c.47 others(84): Show c.4779_*4851delTTCCTCTACGTCCTCACCTGCAATGACTGAGGTT CCTGCTCCACGTCCTCACCTGCAATGACTGAGGTTCCTG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding		2367		chr20	TogoVar
GNAQ_chr9_77711097_78036811	77762360	GGCCGCCC others(66): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCACCCC ATCCGGGAGGGAGGTGGGGGGGTC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0159 a0001c0001t0070g0159	1	282	0.0036	-73	c.735 others(92): Show c.735+32030_735+32102delGACCCCCCCACCTCCCTCCCGGATGG GGTGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	5/6			chr9	TogoVar

Search by Variant

Search

Search Results