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
DMD_chrX_31114222_33216549	32452374	AGGGAAAG others(40): Show AGGGAAAGGGAAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0013 a0013	a0013c0059 a0013c0059	a0013c0059t0004 a0013c0059t0004	a0013c0059t0004g0065 a0013c0059t0004g0065	1	126	0.0079	-47	c.360 others(66): Show c.3603+2241_3603+2287delCTTTCCCTTTCCCTTTCCTTTCCCTT CCCTTTCCCTTTCCCTTTCCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
DNAAF5_chr7_721699_791475	782399	CGTGGCCG others(40): Show CGTGGCCGCCTCCCCTCACGCGGCGTCAGAAACTCGCATCTTCCTGGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG03490.hp1 others(1): Show HG02258.hp2 HG02818.hp2 HG03490.hp1 HG03831.hp1	a0002 a0003 a0010 a0002 a0003 a0010	a0002c0002 a0003c0003 a0010c0020 a0002c0002 a0003c0003 a0010c0020	a0002c0002t0001 a0003c0003t0003 a0010c0020t0001 a0002c0002t0001 a0003c0003t0003 a0010c0020t0001	a0002c0002t0001g0011 a0003c0003t0003g0020 a0010c0020t0001g0011 a0002c0002t0001g0011 a0003c0003t0003g0020 a0010c0020t0001g0011	4	376	0.0106	-47	c.243 others(66): Show c.2431+2269_2431+2315delCTCACGCGGCGTCAGAAACTCGCATC TTCCTGGTGTGGCCGCCTCCC	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH17_chr17_78418697_78582396	78541193	GGGGGGGT others(40): Show GGGGGGGTGAGCGGATGGGTGGGTGGGGGGGTGAGCGGATGGGTGGGT	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02083.hp2 HG02040.hp2 HG02083.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0201 a0007c0010t0001g0219 a0007c0010t0001g0201 a0007c0010t0001g0219	2	249	0.0080	-47	c.253 others(66): Show c.2533-1360_2533-1314delACCCACCCATCCGCTCACCCCCCCAC CCACCCATCCGCTCACCCCCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78577856	GTAGAGCT others(40): Show GTAGAGCTAATAGAGGAATTCAGCAAGTTTGCAGTATACAAGATATTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0038 a0038	a0038c0037 a0038c0037	a0038c0037t0002 a0038c0037t0002	a0038c0037t0002g0101 a0038c0037t0002g0101	1	250	0.0040	-47	c.-63 others(56): Show c.-634_-588delAAATATCTTGTATACTGCAAACTTGCTGAATTCCTC TATTAGCTCTA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding		461		chr17	TogoVar
DNAH9_chr17_11593470_11974748	11694829	TTTCTTTC others(40): Show TTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0060 a0060	a0060c0116 a0060c0116	a0060c0116t0001 a0060c0116t0001	a0060c0116t0001g0147 a0060c0116t0001g0147	1	175	0.0057	-47	c.487 others(64): Show c.4872+385_4872+431delCTTTCTTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCTTTCTT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI2_chr17_74269234_74319884	74319313	GTAGCCAT others(40): Show GTAGCCATGCCCAGAACACAAGGAGGTGGGACTTTGCCCAGGTTGCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	396	0.0025	-47	c.47 others(58): Show c.4781_*4827delTAGCCATGCCCAGAACACAAGGAGGTGGGACTTT GCCCAGGTTGCCC	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding		4430		chr17	TogoVar
DOCK2_chr5_169632275_170088382	169972542	CAGATAGA others(40): Show CAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATGAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01358.hp1 HG02257.hp1 others(1): Show HG00280.hp2 HG01358.hp1 HG02257.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0064 a0001c0001 a0001c0005 a0002c0064	a0001c0001t0002 a0001c0005t0001 a0002c0064t0001 a0001c0001t0002 a0001c0005t0001 a0002c0064t0001	a0001c0001t0002g0035 a0001c0001t0002g0102 a0001c0005t0001g0175 others(1): Show a0001c0001t0002g0035 a0001c0001t0002g0102 a0001c0005t0001g0175 a0002c0064t0001g0139	4	156	0.0256	-47	c.280 others(68): Show c.2800-10485_2800-10439delAGATGATAGATAGATAGATAGATA GATAGATAGATAGATAGATAGAT	DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	27/51		INFO_REALIGN_3_PRIME	chr5	TogoVar
DPH7_chr9_137549444_137583925	137551686	CCCGCGAG others(40): Show CCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	337	0.0030	-47	c.35 others(58): Show c.3506_*3552delCGCGGGGCGGGGCTCGCGGGGCGGGGCTCGCGGG GCGGGGCTCGCGG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding		2757		chr9	TogoVar
DTX1_chr12_113051730_113103025	113101656	GCTCCAGG others(40): Show GCTCCAGGTATTAAAAGATCCCAAGACCCAGTTCTGCATAAGGGACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG03209.hp1 HG04184.hp1 HG01358.hp1 HG03209.hp1 HG04184.hp1	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0025 a0001c0008t0009 a0001c0006t0025 a0001c0008t0009	a0001c0006t0025g0078 a0001c0008t0009g0178 a0001c0008t0009g0307 a0001c0006t0025g0078 a0001c0008t0009g0178 a0001c0008t0009g0307	3	336	0.0089	-47	c.47 others(58): Show c.4718_*4764delCTCCAGGTATTAAAAGATCCCAAGACCCAGTTCT GCATAAGGGACCC	DTX1	ENSG00000135144.8	transcript	ENST00000548759.2	protein_coding		3632		chr12	TogoVar
DYM_chr18_49031387_49465645	49252245	ACTGCCTG others(40): Show ACTGCCTGAGACTGGGTAATTTATAAAGTTAAGAGGTTTCATTGACTC	A A	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	288	0.0035	-47	c.146 others(66): Show c.1460+4718_1460+4764delGAGTCAATGAAACCTCTTAACTTTAT AAATTACCCAGTCTCAGGCAG	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17			chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	101998240	TACAAACG others(40): Show TACAAACGCCTGGACCCCTCTCCCCTCTATAAACGCTGATCCGATAAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02273.hp2 HG03688.hp2 others(9): Show HG00423.hp1 HG02273.hp2 HG03688.hp2 NA18947.hp1 NA18951.hp1 NA18967.hp2 NA18973.hp2 NA18990.hp2 NA19054.hp2 NA19067.hp1 NA19074.hp2 NA19080.hp1	a0001 a0006 a0001 a0006	a0001c0006 a0006c0019 a0001c0006 a0006c0019	a0001c0006t0007 a0006c0019t0023 a0001c0006t0007 a0006c0019t0023	a0001c0006t0007g0004 a0001c0006t0007g0257 a0001c0006t0007g0258 others(8): Show a0001c0006t0007g0004 a0001c0006t0007g0257 a0001c0006t0007g0258 a0001c0006t0007g0259 a0001c0006t0007g0260 a0001c0006t0007g0261 a0001c0006t0007g0263 a0001c0006t0007g0264 a0001c0006t0007g0265 a0001c0006t0007g0266 a0006c0019t0023g0262	12	278	0.0432	-47	c.380 others(65): Show c.3804+998_3804+1044delACGCTGATCCGATAACACAAACGCCTG GACCCCTCTCCCCTCTATAA	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	16/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYRK1A_chr21_37361773_37531358	37448696	TTGTTTGT others(40): Show TTGTTTGTTTTTGAGGCAGAGTCTTACTCTGTTGCCAGGCTGTCAGGC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp1 HG03453.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0003g0299 a0001c0001t0003g0301	2	348	0.0057	-47	c.11- others(64): Show c.11-23985_11-23939delTTTGTTTTTGAGGCAGAGTCTTACTCTG TTGCCAGGCTGTCAGGCTG	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
EBF2_chr8_25836725_26050413	26002889	GGCAGGCA others(40): Show GGCAGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCAGGCA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	218	0.0046	-47	c.551 others(66): Show c.551+30149_551+30195delTGCCTGCCTGCCCGCCTGCCCGCCTG CCCGCCTGCCCGCCTGCCTGC	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EDNRB_chr13_77890487_77923831	77904609	ATATATAT others(40): Show ATATATATATAGTGTGTATATATGTACACGTATATATTTCTCTTTATC	A A	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18967.hp2 NA18968.hp1 others(9): Show NA18953.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18979.hp1 NA18980.hp2 NA18995.hp2 NA18997.hp1 NA19006.hp2 NA19077.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0098 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0098 a0001c0001t0001g0121 a0001c0001t0007g0026 a0001c0001t0007g0027	12	404	0.0297	-47	c.484 others(64): Show c.484-1049_484-1003delGATAAAGAGAAATATATACGTGTACATA TATACACACTATATATATA	EDNRB	ENSG00000136160.17	transcript	ENST00000646607.2	protein_coding	1/6			chr13	TogoVar
EGFR_chr7_55014017_55216628	55166647	GTGGTGTT others(40): Show GTGGTGTTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01515.hp2 others(2): Show HG00741.hp1 HG01109.hp1 HG01515.hp2 NA18954.hp1 NA18954.hp2	a0001 a0002 a0001 a0002	a0001c0024 a0002c0002 a0002c0009 a0001c0024 a0002c0002 a0002c0009	a0001c0024t0001 a0002c0002t0001 a0002c0002t0059 others(1): Show a0001c0024t0001 a0002c0002t0001 a0002c0002t0059 a0002c0009t0002	a0001c0024t0001g0086 a0002c0002t0001g0058 a0002c0002t0059g0073 others(2): Show a0001c0024t0001g0086 a0002c0002t0001g0058 a0002c0002t0059g0073 a0002c0009t0002g0061 a0002c0009t0002g0133	5	248	0.0202	-47	c.188 others(66): Show c.1880+1253_1880+1299delGGTGATGGTGTTGATGGTGGTGAGGA GGTGGGAGTCACAATGGTGGT	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EHMT1_chr9_137614005_137841127	137809893	CGGTTCCG others(40): Show CGGTTCCGATGCCGCCCTGTGTGGACCGTCGGTGATGGGTCCGGAGGT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp1 HG02809.hp1 HG02965.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0005t0001 a0001c0004t0001 a0001c0005t0001	a0001c0004t0001g0139 a0001c0005t0001g0063 a0001c0004t0001g0139 a0001c0005t0001g0063	2	168	0.0119	-47	c.271 others(66): Show c.2713-1521_2713-1475delTGGTTCCGATGCCGCCCTGTGTGGAC CGTCGGTGATGGGTCCGGAGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2B3_chr1_44845522_44991595	44869509	ATTTAGTA others(40): Show ATTTAGTACTCCCAATAAACCTACAAGGTAGTTCAGTTTTACCCCCAT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02615.hp2 HG02630.hp2 others(4): Show HG01943.hp1 HG02615.hp2 HG02630.hp2 HG03041.hp1 HG03225.hp2 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 others(4): Show a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0280	7	320	0.0219	-47	c.120 others(66): Show c.1202+5122_1202+5168delATGGGGGTAAAACTGAACTACCTTGT AGGTTTATTGGGAGTACTAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	10/11			chr1	TogoVar
EIF3H_chr8_116637130_116760823	116679122	GGGTCAGC others(40): Show GGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02145.hp2 HG02258.hp2 others(3): Show HG01099.hp1 HG02145.hp2 HG02258.hp2 HG02698.hp1 HG03017.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0082 a0001c0001t0001g0233 a0001c0001t0001g0241 others(3): Show a0001c0001t0001g0082 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0005g0002 a0001c0001t0005g0203 a0001c0001t0005g0211	6	329	0.0182	-47	c.290 others(66): Show c.290-20189_290-20143delACCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGCTGACC	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
ELF2_chr4_139052265_139182218	139169075	AGGCAGAT others(40): Show AGGCAGATCACGCTTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	340	0.0029	-47	c.-25 others(66): Show c.-252+7845_-252+7891delGCCTGCCCTGGCCTCCCAAAGTGCTG GGATTACAAGCGTGATCTGCC	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELOVL7_chr5_60746791_60849269	60819085	GGAGGGGA others(40): Show GGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA	G G	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	256	0.0039	-47	c.-85 others(66): Show c.-85-19902_-85-19856delTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCCCTCCCCTCCCCTC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
EMILIN2_chr18_2842006_2921003	2905140	TAGAATGG others(40): Show TAGAATGGAATTAGCTCTGTATCATCCTCAGGGAAAACTGAGAGAGTA	T T	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0021 a0021	a0021c0040 a0021c0040	a0021c0040t0001 a0021c0040t0001	a0021c0040t0001g0163 a0021c0040t0001g0163	1	450	0.0022	-47	c.236 others(66): Show c.2360-1641_2360-1595delGAATGGAATTAGCTCTGTATCATCCT CAGGGAAAACTGAGAGAGTAA	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
ENOSF1_chr18_665318_717630	667233	AGATGGAG others(40): Show AGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0284 a0001c0003t0001g0284	1	272	0.0037	-47	c.70 others(58): Show c.7025_*7071delCCATCACCATCACCATCTCCATCACCATCACCAT CACCATCTCCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3084		chr18	TogoVar
ENOSF1_chr18_665318_717630	667245	TGATGGTG others(40): Show TGATGGTGATGGTGATGGAGATGGTGATGGTGATGGGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	322	0.0031	-47	c.70 others(58): Show c.7013_*7059delTCCATCACCATCCCATCACCATCACCATCTCCAT CACCATCACCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3072		chr18	TogoVar
ENTHD1_chr22_39738044_39898760	39764524	TATGTAAG others(40): Show TATGTAAGAACCAATAAAACTACTACTTAGTCTTTGAAAAATTCATAA	T T	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	216	0.0046	-47	c.121 others(64): Show c.1219+652_1219+698delTTATGAATTTTTCAAAGACTAAGTAGTA GTTTTATTGGTTCTTACAT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	6/6			chr22	TogoVar
ENTR1_chr9_136396922_136415614	136403393	AGGGAGCA others(40): Show AGGGAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTTCCT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp1 HG02280.hp1 others(7): Show HG01074.hp1 HG01109.hp1 HG02280.hp1 HG02615.hp2 HG02809.hp1 HG02896.hp2 HG02976.hp2 HG03579.hp2 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0014 a0001c0001 a0001c0006 a0001c0014	a0001c0001t0001 a0001c0006t0002 a0001c0014t0002 a0001c0001t0001 a0001c0006t0002 a0001c0014t0002	a0001c0001t0001g0007 a0001c0006t0002g0020 a0001c0006t0002g0087 others(2): Show a0001c0001t0001g0007 a0001c0006t0002g0020 a0001c0006t0002g0087 a0001c0006t0002g0092 a0001c0014t0002g0034	10	360	0.0278	-47	c.120 others(64): Show c.1209-553_1209-507delAGGAACCCTGTCCCTTTCTTCCCCGGCA AACCCCACCCCTTGCTCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ERBIN_chr5_65921575_66087546	66018452	TATTATAT others(40): Show TATTATATTATATAATATATATTATATATTATATATTATATTATATAA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0016 a0005c0006t0016	a0005c0006t0016g0226 a0005c0006t0016g0226	1	304	0.0033	-47	c.534 others(64): Show c.534-2869_534-2823delATTATATTATATAATATATATTATATAT TATATATTATATTATATAA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25			chr5	TogoVar
ERC1_chr12_986223_1500931	1078865	CAAAAGTC others(40): Show CAAAAGTCGATATACAAAGATACAGATAGAAATGATTTGTAATATGAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00639.hp1 others(25): Show HG00140.hp2 HG00323.hp2 HG00639.hp1 HG00741.hp1 HG01109.hp2 HG01175.hp2 HG01257.hp1 HG01346.hp1 HG01361.hp2 HG01515.hp2 HG01884.hp2 HG01993.hp2 HG02129.hp1 HG02155.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02735.hp1 HG03669.hp1 NA18966.hp2 NA18982.hp2 NA19090.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0009c0009	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(17): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0030 a0001c0001t0032 a0001c0001t0038 a0001c0001t0042 a0001c0001t0048 a0001c0003t0006 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0028 a0002c0002t0029 a0002c0002t0037 a0002c0002t0050 a0009c0009t0012	a0001c0001t0005g0109 a0001c0001t0005g0111 a0001c0001t0005g0118 others(25): Show a0001c0001t0005g0109 a0001c0001t0005g0111 a0001c0001t0005g0118 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0006g0113 a0001c0001t0006g0116 a0001c0001t0006g0120 a0001c0001t0007g0084 a0001c0001t0012g0112 a0001c0001t0019g0157 a0001c0001t0020g0141 a0001c0001t0030g0159 a0001c0001t0032g0129 a0001c0001t0038g0150 a0001c0001t0042g0085 a0001c0001t0048g0083 a0001c0003t0006g0114 a0002c0002t0009g0149 a0002c0002t0009g0152 a0002c0002t0012g0115 a0002c0002t0013g0133 a0002c0002t0028g0097 a0002c0002t0029g0117 a0002c0002t0037g0151 a0002c0002t0050g0138 a0009c0009t0012g0110	28	160	0.1750	-47	c.670 others(64): Show c.670-4252_670-4206delTAAAAGTCGATATACAAAGATACAGATA GAAATGATTTGTAATATGA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1079284	CAAGTCGA others(40): Show CAAGTCGATATACAGAGATACAGATAGAAATGATTTGTAATATGACAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18612.hp2 HG00738.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0034 a0001c0001t0003g0029 a0001c0001t0003g0034	2	60	0.0333	-47	c.670 others(64): Show c.670-3484_670-3438delCAGATAGAAATGATTTGTAATATGACAA AAGTCGATATACAGAGATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1079684	TAGAAATG others(40): Show TAGAAATGATTTGTAATATGACAAAAGTCGATATACAGAGATATAGAC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01891.hp1 HG02109.hp2 others(12): Show HG01346.hp2 HG01891.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0008 a0001c0001 a0002c0002 a0006c0008	a0001c0001t0013 a0001c0001t0021 a0001c0001t0047 others(9): Show a0001c0001t0013 a0001c0001t0021 a0001c0001t0047 a0001c0001t0053 a0002c0002t0008 a0002c0002t0022 a0002c0002t0033 a0002c0002t0035 a0002c0002t0044 a0002c0002t0052 a0002c0002t0055 a0006c0008t0017	a0001c0001t0013g0041 a0001c0001t0021g0153 a0001c0001t0047g0121 others(12): Show a0001c0001t0013g0041 a0001c0001t0021g0153 a0001c0001t0047g0121 a0001c0001t0053g0039 a0002c0002t0008g0135 a0002c0002t0008g0136 a0002c0002t0008g0137 a0002c0002t0008g0155 a0002c0002t0022g0139 a0002c0002t0033g0143 a0002c0002t0035g0042 a0002c0002t0044g0040 a0002c0002t0052g0145 a0002c0002t0055g0146 a0006c0008t0017g0140	15	160	0.0938	-47	c.670 others(64): Show c.670-3437_670-3391delTAGACAGAAATGATTTGTAATATGACAA AAGTCGATATACAGAGATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1090887	ATTATTAT others(40): Show ATTATTATTATTATTATTATTATTATCATTTGTGACAGAGCTTTGCTC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03195.hp1 HG03225.hp2 HG02717.hp1 HG03195.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0009 a0001c0001t0018 a0001c0013t0045 a0001c0001t0009 a0001c0001t0018 a0001c0013t0045	a0001c0001t0009g0072 a0001c0001t0018g0074 a0001c0013t0045g0073 a0001c0001t0009g0072 a0001c0001t0018g0074 a0001c0013t0045g0073	3	140	0.0214	-47	c.108 others(66): Show c.1086+7309_1086+7355delTATTATTATTATTATTATTATTATCA TTTGTGACAGAGCTTTGCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERICH1_chr8_659200_736224	675475	GGCGGCCC others(40): Show GGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA20129.hp2 HG02572.hp2 NA20129.hp2	a0001 a0010 a0001 a0010	a0001c0009 a0010c0012 a0001c0009 a0010c0012	a0001c0009t0001 a0010c0012t0001 a0001c0009t0001 a0010c0012t0001	a0001c0009t0001g0118 a0010c0012t0001g0117 a0001c0009t0001g0118 a0010c0012t0001g0117	2	376	0.0053	-47	c.305 others(64): Show c.305-1475_305-1429delTGTCCTCACGAGGGGCCGCCGCGTCTCT GTCCTCGCCGAGGGGCCGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073485	TGTATATA others(40): Show TGTATATATATATATATATATATATATATATGTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	434	0.0023	-47	c.58+ others(62): Show c.58+8759_58+8805delGTATATATATATATATATATATATATATAT GTATATATATATATATA	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073498	ATATATAT others(40): Show ATATATATATATATATATGTATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01257.hp2 HG01358.hp1 others(23): Show HG01070.hp2 HG01257.hp2 HG01358.hp1 HG01361.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp2 HG02056.hp1 HG02523.hp1 HG02683.hp1 HG02738.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 NA18942.hp2 NA18955.hp2 NA18969.hp2 NA18973.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19009.hp1 NA19074.hp2 NA19079.hp1 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0009 a0005c0005 a0001c0001 a0001c0009 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0005c0005t0001	a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0330 others(23): Show a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0379 a0001c0001t0001g0401 a0001c0001t0001g0404 a0001c0001t0001g0405 a0001c0001t0001g0407 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0296 a0001c0001t0002g0331 a0001c0001t0002g0374 a0001c0001t0002g0402 a0001c0001t0002g0403 a0001c0001t0002g0406 a0001c0009t0001g0221 a0005c0005t0001g0149	26	398	0.0653	-47	c.58+ others(62): Show c.58+8772_58+8818delTATATATATATATATATGTATATATATATA TATATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2			chr8	TogoVar
ETFB_chr19_51340169_51371388	51349745	TGCATTTC others(40): Show TGCATTTCTTTTTTCTTTTTTTGAGACGGAGCCTCCCTCTGTTGCCAG	T T	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	434	0.0023	-47	c.438 others(62): Show c.438+537_438+583delCTGGCAACAGAGGGAGGCTCCGTCTCAAAA AAAGAAAAAAGAAATGC	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	4/5			chr19	TogoVar
ETS1_chr11_128453765_128592558	128571472	CCAGCCTG others(40): Show CCAGCCTGGGCGACAGAGCAAGACTCCGTCAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01109.hp1 HG02071.hp2 others(24): Show HG00621.hp2 HG01109.hp1 HG02071.hp2 HG02165.hp1 HG02258.hp1 HG02622.hp2 HG02717.hp2 HG02735.hp1 HG02896.hp1 HG02897.hp2 HG03139.hp2 HG03209.hp2 HG03540.hp1 HG03710.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18961.hp2 NA18970.hp2 NA18990.hp1 NA19001.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19081.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0017 a0001c0001t0022 a0001c0001t0026 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0009 a0001c0002t0013 a0001c0005t0003	a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0003g0013 others(24): Show a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0003g0013 a0001c0001t0004g0021 a0001c0001t0004g0029 a0001c0001t0006g0032 a0001c0001t0006g0033 a0001c0001t0014g0023 a0001c0001t0017g0030 a0001c0001t0022g0007 a0001c0001t0026g0020 a0001c0002t0001g0005 a0001c0002t0001g0016 a0001c0002t0003g0003 a0001c0002t0003g0006 a0001c0002t0003g0008 a0001c0002t0003g0010 a0001c0002t0003g0014 a0001c0002t0003g0017 a0001c0002t0004g0019 a0001c0002t0004g0026 a0001c0002t0007g0004 a0001c0002t0007g0027 a0001c0002t0007g0028 a0001c0002t0009g0035 a0001c0002t0013g0022 a0001c0005t0003g0117	27	278	0.0971	-47	c.69+ others(62): Show c.69+1543_69+1589delTTTTTTTTTTTTTTTTTTGACGGAGTCTTG CTCTGTCGCCCAGGCTG	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	2/9			chr11	TogoVar
ETS1_chr11_128453765_128592558	128585077	AGAAAGAA others(40): Show AGAAAGAAAGAAAGGAAAGAAAGAAAGGAAGGAAGGAAGGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0183 a0001c0001t0019g0183	1	282	0.0035	-47	c.-15 others(64): Show c.-15+2364_-15+2410delCTTTCTTTCCTTCCTTCCTTCCTTTCTT TCTTTCCTTTCTTTCTTTC	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
EYA3_chr1_27965344_28093610	27968463	GCCTCAGG others(40): Show GCCTCAGGGGATGTGGATGTGGTGGGTGATGGTGCTGGGGAAGTGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0041 a0001c0001t0011g0041	1	390	0.0026	-47	c.59 others(58): Show c.5956_*6002delTTCCACTTCCCCAGCACCATCACCCACCACATCC ACATCCCCTGAGG	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding		1880		chr1	TogoVar
F10_chr13_113117799_113154529	113154159	CGGGGGAG others(40): Show CGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA19060.hp2 NA19067.hp2 others(1): Show NA18960.hp2 NA19060.hp2 NA19067.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0049 a0001c0001t0001g0050 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0320	4	397	0.0101	-47	c.46 others(58): Show c.4643_*4689delGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGG GGGGGCGGGCCGT	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4631		chr13	TogoVar
F8A2_chrX_155377095_155388801	155385567	AGGCTGTT others(40): Show AGGCTGTTGGGGTTCCCCTTCTCCCCATTGTGAGGTACTCCCAAAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	267	0.0037	-47	c.23 others(58): Show c.2338_*2384delGGCTGTTGGGGTTCCCCTTCTCCCCATTGTGAGG TACTCCCAAAAGG	F8A2	ENSG00000288709.1	transcript	ENST00000369505.5	protein_coding		1767		chrX	TogoVar
FAM107B_chr10_14513557_14779897	14629391	AATATATA others(40): Show AATATATATTATATATTTAATATATATAATATATATAATATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	265	0.0038	-47	c.469 others(66): Show c.469+38196_469+38242delATAATATATATTATATATATTATATA TATTAAATATATAATATATAT	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4			chr10	TogoVar
FAM118B_chr11_126206782_126267968	126226100	AAGGCCAG others(40): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01099.hp2 HG01261.hp1 others(12): Show HG00323.hp1 HG01099.hp2 HG01261.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG02735.hp2 HG03239.hp2 HG03669.hp1 HG03942.hp1 NA18953.hp1 NA18970.hp2 NA19055.hp2 NA19066.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0235 a0001c0001t0001g0262 others(12): Show a0001c0001t0001g0222 a0001c0001t0001g0235 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0297 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323	15	45	0.3333	-47	c.-76 others(64): Show c.-76-2750_-76-2704delGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM20B_chr1_179020894_179081567	179040664	TCCCCCCA others(40): Show TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGCTGA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01167.hp2 HG01361.hp1 others(7): Show HG01081.hp2 HG01167.hp2 HG01361.hp1 HG01516.hp1 HG02602.hp1 HG02738.hp1 NA18945.hp1 NA18977.hp1 NA19007.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0047 a0001c0001t0001g0245 others(4): Show a0001c0001t0001g0018 a0001c0001t0001g0047 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267	10	404	0.0248	-47	c.-13 others(66): Show c.-133-2998_-133-2952delCACCTCCCTCCCGGACGGGGCGGCTG GCCTGGCGGGGGCTGACCCCC	FAM20B	ENSG00000116199.12	transcript	ENST00000263733.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM210A_chr18_13658347_13731558	13675575	CATTTCCA others(40): Show CATTTCCAGTTTCCTGATTATTAACATTTCTGAGCCCTGGCCTCTTTA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	256	0.0039	-47	c.474 others(64): Show c.474-3649_474-3603delTAAAGAGGCCAGGGCTCAGAAATGTTAA TAATCAGGAAACTGGAAAT	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM210A_chr18_13658347_13731558	13675978	GTAACTTC others(40): Show GTAACTTCTTTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCGC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	93	0.0108	-47	c.474 others(64): Show c.474-4052_474-4006delGCGGCTCAGGAATGTTAATAATCAGGAA ACTGGAAATAAAGAAGTTA	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM210A_chr18_13658347_13731558	13676400	TTCTTTAT others(40): Show TTCTTTATTTCCAGTTTCCTGATTATTAACAGTCCTGAGCCCCTGACC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0090 a0001c0001t0017g0090	1	324	0.0031	-47	c.474 others(64): Show c.474-4474_474-4428delGGTCAGGGGCTCAGGACTGTTAATAATC AGGAAACTGGAAATAAAGA	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM3B_chr21_41311801_41362727	41313428	AATTTGAT others(40): Show AATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG03209.hp2 NA19056.hp2 HG02293.hp1 HG03209.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0004g0134 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0004g0134	3	122	0.0246	-47	c.-34 others(58): Show c.-3451_-3405delATTTGATCCATTCTTGAACCTCATCATACAGTAT GTATGCATGTCGC	FAM3B	ENSG00000183844.17	transcript	ENST00000357985.7	protein_coding		3372		chr21	TogoVar
FBRSL1_chr12_132485151_132590188	132546554	CGGGGGGA others(40): Show CGGGGGGACCCTAGGAGAGGGCTTGGCCACGGCTGAAAGGCCAGACCG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG03130.hp2 others(1): Show HG02055.hp2 HG02109.hp1 HG03130.hp2 HG03471.hp2	a0002 a0007 a0023 a0002 a0007 a0023	a0002c0004 a0007c0071 a0023c0037 a0002c0004 a0007c0071 a0023c0037	a0002c0004t0002 a0007c0071t0011 a0023c0037t0011 a0002c0004t0002 a0007c0071t0011 a0023c0037t0011	a0002c0004t0002g0072 a0007c0071t0011g0070 a0023c0037t0011g0071 others(1): Show a0002c0004t0002g0072 a0007c0071t0011g0070 a0023c0037t0011g0071 a0023c0037t0011g0073	4	344	0.0116	-47	c.616 others(64): Show c.616-1402_616-1356delGGGGGGGACCCTAGGAGAGGGCTTGGCC ACGGCTGAAAGGCCAGACC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXW11_chr5_171856549_172011638	172010687	TATATATA others(40): Show TATATATATATATATATATATACACACATACATATATATAATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG02258.hp2 others(9): Show HG01109.hp1 HG01167.hp1 HG02258.hp2 HG02572.hp2 HG02809.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002	a0001c0001t0001g0082 a0001c0002t0001g0012 a0001c0002t0001g0153 others(9): Show a0001c0001t0001g0082 a0001c0002t0001g0012 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0003g0052 a0001c0002t0003g0056 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0002g0141 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0157	12	135	0.0889	-47	c.-42 others(58): Show c.-4232_-4186delGTATATATTATATATATGTATGTGTGTATATATA TATATATATATAT	FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding		4050		chr5	TogoVar
FCHSD1_chr5_141634302_141656418	141652879	CACTCTTT others(40): Show CACTCTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCAGGCTGGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	426	0.0023	-47	c.-15 others(58): Show c.-1558_-1512delCTCCAGCCTGGCAACAGAGCAAGACTCCATCTCA AAAAAAAAAGAGT	FCHSD1	ENSG00000197948.11	transcript	ENST00000435817.7	protein_coding		1462		chr5	TogoVar
FER1L5_chr2_96637764_96709883	96659374	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	178	0.0056	-47	c.748 others(62): Show c.748-964_748-918delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results