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
EML5_chr14_88607431_88797953	88796933	ATATATAT others(50): Show ATATATATTATATGTTATATATATTATATATTATATATATATTATATGTT ATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0196 a0001c0001t0035g0196	1	332	0.0030	-57	c.-44 others(68): Show c.-4487_-4431delATATATATAACATATAATATATATATAATATATA ATATATATAACATATAATATATA		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding					3981		chr14	TogoVar
EML6_chr2_54718662_54977025	54907900	TTAGATAG others(50): Show TTAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAAGA TAGATAGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01261.hp2 HG02055.hp1 others(5): Show HG00099.hp1 HG01261.hp2 HG02055.hp1 HG02647.hp1 HG02886.hp2 HG02976.hp2 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0034 a0001c0002 a0001c0005 a0001c0034	a0001c0002t0001 a0001c0002t0044 a0001c0002t0046 others(2): Show a0001c0002t0001 a0001c0002t0044 a0001c0002t0046 a0001c0005t0001 a0001c0034t0047	a0001c0002t0001g0219 a0001c0002t0044g0210 a0001c0002t0046g0051 others(5): Show a0001c0002t0001g0219 a0001c0002t0044g0210 a0001c0002t0046g0051 a0001c0005t0001g0052 a0001c0005t0001g0079 a0001c0005t0001g0083 a0001c0005t0001g0092 a0001c0034t0047g0032	8	264	0.0303	-57	c.341 others(76): Show c.3410-3007_3410-2951delAGATAGATAGATAGATAGATAGATAG ATAGATAGATAGATAGATAGATAGATAGATA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EMSY_chr11_76440018_76558031	76494679	CTTCCTTC others(50): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp1 HG02080.hp2 others(10): Show HG00544.hp2 HG00673.hp1 HG02080.hp2 HG02698.hp1 NA18969.hp1 NA18973.hp1 NA18988.hp1 NA18992.hp2 NA19001.hp1 NA19003.hp1 NA19070.hp2 NA19074.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0003 a0001c0001t0001g0291 a0001c0001t0001g0294 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0302 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0019g0306	13	360	0.0361	-57	c.115 others(76): Show c.1154-1521_1154-1465delCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTTCCTTCCTTCCTT		EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr11	TogoVar
ENDOV_chr17_80410167_80443086	80442827	ACGGGGGG others(50): Show ACGGGGGGACAAAGCATCACAGAGCTGGGAGGAGGAGAGAAGAGTTTGTT CTAAAAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	420	0.0024	-57	c.66 others(68): Show c.6685_*6741delCGGGGGGACAAAGCATCACAGAGCTGGGAGGAGG AGAGAAGAGTTTGTTCTAAAAGT		ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding					4742		chr17	TogoVar
EPHA5_chr4_65314567_65675489	65531447	TATATACT others(50): Show TATATACTGAGATGTCTTTGCAGAATGACCATGATCCAGGAATCTGATCA TAAAGAGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG01123.hp2 others(12): Show HG00140.hp2 HG00597.hp1 HG01123.hp2 HG01981.hp1 HG02109.hp1 HG02135.hp2 HG02300.hp1 HG02523.hp2 HG03654.hp1 HG04204.hp2 NA18943.hp2 NA18957.hp2 NA19063.hp1 NA19091.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0005 a0001c0001t0014 a0001c0001t0015 others(3): Show a0001c0001t0005 a0001c0001t0014 a0001c0001t0015 a0001c0001t0030 a0001c0002t0001 a0001c0004t0001	a0001c0001t0005g0158 a0001c0001t0005g0187 a0001c0001t0005g0210 others(12): Show a0001c0001t0005g0158 a0001c0001t0005g0187 a0001c0001t0005g0210 a0001c0001t0005g0221 a0001c0001t0005g0225 a0001c0001t0014g0048 a0001c0001t0014g0067 a0001c0001t0015g0160 a0001c0001t0030g0181 a0001c0002t0001g0071 a0001c0004t0001g0117 a0001c0004t0001g0122 a0001c0004t0001g0126 a0001c0004t0001g0131 a0001c0004t0001g0134	15	234	0.0641	-57	c.911 others(76): Show c.911-35961_911-35905delCCTCTTTATGATCAGATTCCTGGATC ATGGTCATTCTGCAAAGACATCTCAGTATAT		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16						chr4	TogoVar
EPOR_chr19_11372207_11389314	11372241	CACTTTGG others(50): Show CACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGAAGTTTGAGA CCAGTCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	-57	c.56 others(68): Show c.5686_*5742delCAGACTGGTCTCAAACTTCTGACCTCAGGTGATC TGCCCGCCTTGGCCTCCCAAAGT		EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding					4965		chr19	TogoVar
ERC2_chr3_55503311_56473467	55720131	CTCTTCTT others(50): Show CTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	74	0.0135	-57	c.271 others(78): Show c.2712+14583_2712+14639delAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERICH1_chr8_659200_736224	671669	CCTAATGT others(50): Show CCTAATGTCTGTGCTCACTGGGCTCCAGGCTGCGACCTCTGAACCTGCCG CCCCGGCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp2 HG01257.hp2 others(34): Show HG01081.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01496.hp2 HG01891.hp2 HG01981.hp1 HG02040.hp1 HG02074.hp2 HG02083.hp1 HG02155.hp1 HG02257.hp1 HG02451.hp2 HG02572.hp2 HG02818.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03239.hp1 HG03453.hp2 HG03654.hp2 HG04199.hp2 NA18942.hp2 NA18950.hp2 NA18980.hp1 NA18984.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19068.hp1 NA19078.hp1 NA19079.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0009 a0010c0012 a0001c0001 a0001c0009 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0010c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0103 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0142 a0001c0001t0001g0164 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0227 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0002g0012 a0001c0001t0002g0290 a0001c0001t0002g0330 a0001c0009t0001g0120 a0010c0012t0001g0119	37	378	0.0979	-57	c.106 others(76): Show c.1063+1563_1063+1619delAGCCGGGGCGGCAGGTTCAGAGGTCG CAGCCTGGAGCCCAGTGAGCACAGACATTAG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/5						chr8	TogoVar
ERICH1_chr8_659200_736224	671701	CGACCTCT others(50): Show CGACCTCTGAACCTGCCGCCCCGGCTCTAATGTCTGCGCTCACTGGGCTC CAGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00609.hp1 others(64): Show HG00140.hp2 HG00544.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02056.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp2 HG02738.hp2 HG02895.hp2 HG03209.hp1 HG03239.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18951.hp2 NA18955.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA19002.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19060.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 others(63): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0002g0274 a0001c0001t0003g0108 a0001c0009t0001g0234	67	378	0.1773	-57	c.106 others(76): Show c.1063+1531_1063+1587delTCAGCCTGGAGCCCAGTGAGCGCAGA CATTAGAGCCGGGGCGGCAGGTTCAGAGGTC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/5						chr8	TogoVar
ERICH1_chr8_659200_736224	696669	CGCTCGCT others(50): Show CGCTCGCTCCTCACCCTCCACTCTTCTCCTTCTCCACTCCTCTCCTTCCT CCCCATCA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01361.hp2 HG02723.hp2 others(4): Show HG00642.hp2 HG01361.hp2 HG02723.hp2 HG02735.hp2 HG04184.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005	a0001c0002t0001g0144 a0001c0002t0002g0338 a0001c0002t0002g0339 others(4): Show a0001c0002t0001g0144 a0001c0002t0002g0338 a0001c0002t0002g0339 a0001c0002t0002g0340 a0001c0002t0002g0341 a0001c0002t0002g0347 a0001c0002t0005g0243	7	378	0.0185	-57	c.170 others(74): Show c.170-4114_170-4058delTGATGGGGAGGAAGGAGAGGAGTGGAGA AGGAGAAGAGTGGAGGGTGAGGAGCGAGC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ETFB_chr19_51340169_51371388	51353848	CTCAGACC others(50): Show CTCAGACCCAGGAATCCAGGCCCCCATCCCCTTCTTCCTCAGACCCAGGA GTCCAGGG	C C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	436	0.0023	-57	c.216 others(72): Show c.216+245_216+301delCCCTGGACTCCTGGGTCTGAGGAAGAAGGG GATGGGGGCCTGGATTCCTGGGTCTGA		ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	2/5						chr19	TogoVar
ETS2_chr21_38800929_38829955	38816000	AAGGAAGG others(50): Show AAGGAAGGAAGGAGGGAGGGAGGGAAGGAAGGAAGGAAAGAAAGAGGGAG GGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02027.hp2 HG02129.hp1 others(7): Show HG01255.hp2 HG02027.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02698.hp2 NA18951.hp2 NA18999.hp2 NA19064.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0001t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0117 a0001c0002t0002g0007 a0001c0002t0002g0077 others(5): Show a0001c0001t0001g0117 a0001c0002t0002g0007 a0001c0002t0002g0077 a0001c0002t0002g0192 a0001c0002t0002g0220 a0001c0002t0002g0229 a0001c0002t0002g0283 a0001c0002t0003g0178	10	426	0.0235	-57	c.506 others(73): Show c.506-1007_506-951delAGGAAGGAAGGAGGGAGGGAGGGAAGGAA GGAAGGAAAGAAAGAGGGAGGGAGGGAG		ETS2	ENSG00000157557.13	transcript	ENST00000360938.8	protein_coding	5/9						chr21	TogoVar
ETS2_chr21_38800929_38829955	38816001	AGGAAGGA others(50): Show AGGAAGGAAGGAGGGAGGGAGGGAAGGAAGGAAGGAAAGAAAGAGGGAGG GAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00741.hp1 HG01516.hp1 others(8): Show HG00408.hp2 HG00741.hp1 HG01516.hp1 HG02683.hp2 HG03491.hp1 HG03492.hp2 HG04204.hp1 NA18951.hp1 NA18962.hp2 NA18982.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0140 a0001c0002t0002g0006 a0001c0002t0002g0009 others(2): Show a0001c0001t0001g0140 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0042 a0001c0002t0002g0254	11	426	0.0258	-57	c.506 others(73): Show c.506-1003_506-947delAGGAAGGAGGGAGGGAGGGAAGGAAGGAA GGAAAGAAAGAGGGAGGGAGGGAGGGGA		ETS2	ENSG00000157557.13	transcript	ENST00000360938.8	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr21	TogoVar
ETS2_chr21_38800929_38829955	38816005	AGGAAGGA others(50): Show AGGAAGGAGGGAGGGAGGGAAGGAAGGAAGGAAAGAAAGAGGGAGGGAGG GAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0227 a0001c0003t0002g0227	1	426	0.0024	-57	c.506 others(72): Show c.506-999_506-943delAGGAGGGAGGGAGGGAAGGAAGGAAGGAAA GAAAGAGGGAGGGAGGGAGGGGAGGGA		ETS2	ENSG00000157557.13	transcript	ENST00000360938.8	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr21	TogoVar
EVA1C_chr21_32407706_32520387	32477718	CACCTCCC others(50): Show CACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCC CCCGTACG	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0072 a0001c0005t0001g0072	1	346	0.0029	-57	c.634 others(74): Show c.634+9871_634+9927delACCTCCCCCGTACGCCCTCCCCTCCCCT CCCCCGTACGCCCTCCCCTCCCCCGTACG		EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7						chr21	TogoVar
EXOC2_chr6_480154_698139	676622	ACTCTGCG others(50): Show ACTCTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGATAGGTTCCTC TGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0079 a0001c0004t0003g0079	1	272	0.0037	-57	c.-44 others(76): Show c.-44+16340_-44+16396delAGTCACCAGAGGAACCTATCCTTTCC GTAATGTTGAAGAGTATGGGGAACCGCAGAG		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27						chr6	TogoVar
EZR_chr6_158760748_158824368	158811304	TGAAAGCA others(50): Show TGAAAGCAGACTGAATTTCACTGCTTCAGAATAGAGCTGAAACATCTAAC TACCATTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(137): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18939.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18949.hp2 NA18956.hp1 NA18960.hp1 NA18963.hp2 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18983.hp2 NA19002.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19077.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0005 a0001c0010 others(3): Show a0001c0001 a0001c0005 a0001c0010 a0002c0002 a0005c0006 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0025 a0001c0005t0002 a0001c0010t0005 a0002c0002t0007 a0005c0006t0006 a0006c0008t0002	a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0002g0004 others(132): Show a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0235 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0261 a0001c0001t0006g0263 a0001c0001t0006g0264 a0001c0001t0006g0268 a0001c0001t0007g0145 a0001c0001t0009g0299 a0001c0001t0009g0300 a0001c0001t0009g0301 a0001c0001t0009g0304 a0001c0001t0011g0298 a0001c0001t0011g0302 a0001c0001t0011g0303 a0001c0001t0012g0291 a0001c0001t0012g0292 a0001c0001t0014g0271 a0001c0001t0014g0272 a0001c0001t0016g0246 a0001c0001t0019g0189 a0001c0001t0022g0275 a0001c0001t0025g0259 a0001c0005t0002g0195 a0001c0010t0005g0010 a0002c0002t0007g0184 a0005c0006t0006g0262 a0006c0008t0002g0234	140	312	0.4487	-57	c.12+ others(72): Show c.12+6721_12+6777delTAATGGTAGTTAGATGTTTCAGCTCTATTC TGAAGCAGTGAAATTCAGTCTGCTTTC		EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13						chr6	TogoVar
F8A3_chrX_155451914_155463620	155458169	GAGGGCGG others(50): Show GAGGGCGGCGGCGGCGGCCGGCTGGCCCAGCTCGAGGTGCAGACGCACCG CGGCGCCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0000 a0004c0004t0001g0000	1	270	0.0037	-57	c.375 others(64): Show c.375_431delGGGCGCCGCGGTGCGTCTGCACCTCGAGCTGGGCCAGC CGGCCGCCGCCGCCGCCCT	p.Gly others(13): Show p.Gly126_Leu144del	F8A3	ENSG00000277150.2	transcript	ENST00000622749.2	protein_coding	1/1	451/1707	375/1116	125/371			chrX	TogoVar
FAM174B_chr15_92612448_92660775	92631164	ATAATAAT others(50): Show ATAATAATTTATATATTATATTATATATTATATATATTACATATATTATA TATTATAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0136 a0001c0001t0020g0136	1	394	0.0025	-57	c.345 others(72): Show c.345-876_345-820delATATAATATATAATATATGTAATATATATA ATATATAATATAATATATAAATTATTA		FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2						chr15	TogoVar
FAM227A_chr22_38573118_38661392	38629645	GACTCACA others(50): Show GACTCACACACAGGTGCCTCTCCTTTACCATCAGGAAGCGTGCCTCTTCT TTACCATC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02717.hp1 others(3): Show HG02109.hp2 HG02258.hp2 HG02717.hp1 HG03098.hp1 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0013 a0001c0003t0032 a0001c0007t0013 a0001c0003t0013 a0001c0003t0032 a0001c0007t0013	a0001c0003t0013g0158 a0001c0003t0013g0159 a0001c0003t0013g0160 others(3): Show a0001c0003t0013g0158 a0001c0003t0013g0159 a0001c0003t0013g0160 a0001c0003t0013g0161 a0001c0003t0032g0156 a0001c0007t0013g0157	6	328	0.0183	-57	c.520 others(72): Show c.520-767_520-711delGATGGTAAAGAAGAGGCACGCTTCCTGATG GTAAAGGAGAGGCACCTGTGTGTGAGT		FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	6/16						chr22	TogoVar
FAM227A_chr22_38573118_38661392	38661203	TCGTTCTG others(50): Show TCGTTCTGTCACCCAGGCTGGAGCGCAGTGGTGTGTTCTCGGCTCACCGC AACCTCCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	328	0.0031	-57	c.-52 others(68): Show c.-5235_-5179delCGGAGGTTGCGGTGAGCCGAGAACACACCACTGC GCTCCAGCCTGGGTGACAGAACG		FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding					4812		chr22	TogoVar
FAM227B_chr15_49321970_49625818	49489787	GATATATA others(50): Show GATATATATATATATTTTATATATATATATATATTTTATATATATATATA TATTTTAT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02055.hp2 HG02258.hp1 others(6): Show HG01255.hp2 HG02055.hp2 HG02258.hp1 HG02451.hp1 HG02965.hp1 HG03130.hp2 HG03540.hp1 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0008 a0001c0002t0007 a0001c0002t0008	a0001c0002t0007g0280 a0001c0002t0007g0282 a0001c0002t0007g0283 others(6): Show a0001c0002t0007g0280 a0001c0002t0007g0282 a0001c0002t0007g0283 a0001c0002t0008g0273 a0001c0002t0008g0274 a0001c0002t0008g0275 a0001c0002t0008g0276 a0001c0002t0008g0277 a0001c0002t0008g0278	9	294	0.0306	-57	c.101 others(78): Show c.1012+18367_1012+18423delATAAAATATATATATATATATAAA ATATATATATATATATAAAATATATATATATAT		FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15						chr15	TogoVar
FAM53A_chr4_1634887_1689313	1641144	AGCCGTGG others(50): Show AGCCGTGGCCCCGACCAGCTCACAGGAAACCTACTCTGTGCCCCAGGGCA GGTGCCGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG00733.hp1 others(79): Show HG00544.hp1 HG00621.hp1 HG00733.hp1 HG00738.hp1 HG01070.hp2 HG01109.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp2 NA18522.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18969.hp2 NA18977.hp1 NA18979.hp2 NA18990.hp2 NA18994.hp1 NA19009.hp2 NA19010.hp2 NA19070.hp2 NA19080.hp2 NA19087.hp2 NA19088.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0009 a0010 a0011	a0001c0001 a0001c0002 a0002c0003 others(6): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0005c0005 a0006c0007 a0009c0016 a0010c0011 a0011c0008	a0001c0001t0003 a0001c0001t0009 a0001c0001t0031 others(19): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0031 a0001c0001t0037 a0001c0002t0003 a0001c0002t0032 a0001c0002t0041 a0001c0002t0049 a0002c0003t0002 a0002c0003t0009 a0002c0003t0018 a0002c0003t0020 a0002c0003t0025 a0002c0003t0030 a0002c0003t0039 a0002c0003t0044 a0003c0004t0022 a0005c0005t0002 a0006c0007t0003 a0009c0016t0003 a0010c0011t0045 a0011c0008t0020	a0001c0001t0003g0338 a0001c0001t0009g0111 a0001c0001t0031g0049 others(77): Show a0001c0001t0003g0338 a0001c0001t0009g0111 a0001c0001t0031g0049 a0001c0001t0037g0057 a0001c0002t0003g0153 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0003g0195 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0208 a0001c0002t0003g0267 a0001c0002t0003g0271 a0001c0002t0003g0330 a0001c0002t0003g0333 a0001c0002t0003g0335 a0001c0002t0032g0017 a0001c0002t0041g0066 a0001c0002t0049g0332 a0002c0003t0002g0008 a0002c0003t0002g0138 a0002c0003t0002g0139 a0002c0003t0002g0145 a0002c0003t0002g0156 a0002c0003t0002g0186 a0002c0003t0002g0187 a0002c0003t0002g0188 a0002c0003t0002g0204 a0002c0003t0002g0205 a0002c0003t0002g0206 a0002c0003t0002g0250 a0002c0003t0002g0251 a0002c0003t0002g0275 a0002c0003t0002g0279 a0002c0003t0002g0281 a0002c0003t0002g0298 a0002c0003t0002g0312 a0002c0003t0002g0314 a0002c0003t0002g0323 a0002c0003t0002g0325 a0002c0003t0009g0068 a0002c0003t0009g0105 a0002c0003t0009g0106 a0002c0003t0009g0107 a0002c0003t0009g0109 a0002c0003t0009g0113 a0002c0003t0009g0114 a0002c0003t0009g0115 a0002c0003t0009g0116 a0002c0003t0009g0119 a0002c0003t0009g0122 a0002c0003t0009g0127 a0002c0003t0018g0018 a0002c0003t0018g0021 a0002c0003t0018g0022 a0002c0003t0018g0023 a0002c0003t0020g0148 a0002c0003t0020g0301 a0002c0003t0020g0319 a0002c0003t0025g0112 a0002c0003t0025g0124 a0002c0003t0030g0135 a0002c0003t0030g0147 a0002c0003t0039g0055 a0002c0003t0044g0104 a0003c0004t0022g0131 a0003c0004t0022g0150 a0003c0004t0022g0316 a0005c0005t0002g0009 a0006c0007t0003g0331 a0006c0007t0003g0334 a0009c0016t0003g0196 a0010c0011t0045g0123 a0011c0008t0020g0280	82	350	0.2343	-57	c.92 others(65): Show c.92_*148delCCGGCACCTGCCCTGGGGCACAGAGTAGGTTTCCTGT GAGCTGGTCGGGGCCACGGC		FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	5/5				92		chr4	TogoVar
FAT1_chr4_186582794_186728856	186610613	ATTATATA others(50): Show ATTATATAAATATAAATTATATAATTTATATAATTTATATAAATATAAAT TATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp1 HG02055.hp2 others(3): Show HG00741.hp1 HG01891.hp1 HG02055.hp2 HG03098.hp1 HG03130.hp1 HG03453.hp1	a0002 a0005 a0020 others(1): Show a0002 a0005 a0020 a0041	a0002c0152 a0005c0015 a0020c0048 others(2): Show a0002c0152 a0005c0015 a0020c0048 a0020c0121 a0041c0054	a0002c0152t0006 a0005c0015t0043 a0020c0048t0031 others(2): Show a0002c0152t0006 a0005c0015t0043 a0020c0048t0031 a0020c0121t0050 a0041c0054t0030	a0002c0152t0006g0026 a0005c0015t0043g0079 a0020c0048t0031g0116 others(3): Show a0002c0152t0006g0026 a0005c0015t0043g0079 a0020c0048t0031g0116 a0020c0121t0050g0153 a0041c0054t0030g0016 a0041c0054t0030g0109	6	338	0.0178	-57	c.985 others(74): Show c.9854-655_9854-599delATTATATAATTTATATTTATATAAATTA TATAAATTATATAATTTATATTTATATAA		FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	14/26						chr4	TogoVar
FBLN1_chr22_45497883_45606135	45587276	GACGTCCT others(50): Show GACGTCCTCAGCCCAGAGCCCCACTTTTCACATCCATCCCCGCTGCCCGG CCAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02717.hp2 HG02809.hp1 others(2): Show HG02040.hp2 HG02717.hp2 HG02809.hp1 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0001c0001t0001 a0001c0002t0001 a0001c0008t0001	a0001c0001t0001g0104 a0001c0001t0001g0212 a0001c0001t0001g0278 others(2): Show a0001c0001t0001g0104 a0001c0001t0001g0212 a0001c0001t0001g0278 a0001c0002t0001g0336 a0001c0008t0001g0088	5	346	0.0145	-57	c.197 others(78): Show c.1972+10282_1972+10338delCACGTCCTCAGCCCAGAGCCCCAC TTTTCACATCCATCCCCGCTGCCCGGCCAGAGA		FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
FBXO2_chr1_11643387_11659429	11656282	AGAGTGGT others(50): Show AGAGTGGTGTTTCTTATTCTTACTATACTCTTTTTTTTTTTTTTTTTTTT TTGAGACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	428	0.0023	-57	c.-19 others(68): Show c.-1999_-1943delCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTAT AGTAAGAATAAGAAACACCACTC		FBXO2	ENSG00000116661.11	transcript	ENST00000354287.5	protein_coding					1854		chr1	TogoVar
FBXO44_chr1_11649877_11668327	11656282	AGAGTGGT others(50): Show AGAGTGGTGTTTCTTATTCTTACTATACTCTTTTTTTTTTTTTTTTTTTT TTGAGACG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	410	0.0024	-57	c.265 others(72): Show c.265+187_265+243delGGTGTTTCTTATTCTTACTATACTCTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGT		FBXO44	ENSG00000132879.14	transcript	ENST00000251547.10	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
FBXW11_chr5_171856549_172011638	172010669	TATATATA others(50): Show TATATATATATATATATATATATATATATATATATATATACACACATACA TATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02165.hp2 HG02523.hp1 others(9): Show HG00597.hp2 HG02165.hp2 HG02523.hp1 HG04115.hp1 HG04228.hp2 NA18942.hp1 NA18960.hp2 NA18965.hp2 NA19010.hp2 NA19064.hp1 NA19068.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0006 a0001c0001t0001g0061 a0001c0001t0001g0062 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0006g0064	12	158	0.0760	-57	c.-42 others(68): Show c.-4224_-4168delTATATATATGTATGTGTGTATATATATATATATA TATATATATATATATATATATAT		FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding					4032		chr5	TogoVar
FGF7_chr15_49418242_49493775	49489787	GATATATA others(50): Show GATATATATATATATTTTATATATATATATATATTTTATATATATATATA TATTTTAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02055.hp1 HG02258.hp2 others(6): Show HG01255.hp1 HG02055.hp1 HG02258.hp2 HG02451.hp1 HG02965.hp2 HG03130.hp2 HG03540.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014	a0001c0001t0012g0018 a0001c0001t0012g0068 a0001c0001t0012g0069 others(5): Show a0001c0001t0012g0018 a0001c0001t0012g0068 a0001c0001t0012g0069 a0001c0001t0012g0071 a0001c0001t0013g0065 a0001c0001t0013g0066 a0001c0001t0014g0070 a0001c0001t0014g0090	9	358	0.0251	-57	c.52 others(68): Show c.5284_*5340delATATATATATATATTTTATATATATATATATATT TTATATATATATATATATTTTAT		FGF7	ENSG00000140285.12	transcript	ENST00000267843.9	protein_coding					1013		chr15	TogoVar
FIRRM_chr1_169790040_169859080	169850988	TTTTTTTT others(50): Show TTTTTTTTTTTTTTTTTTTATTTGGGCAGCCTCCCAAGCCAGGGTAAGCT CAGGGCCC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03486.hp2 HG03130.hp2 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0003 a0001c0001t0003 a0003c0004t0003	a0001c0001t0003g0156 a0003c0004t0003g0154 a0001c0001t0003g0156 a0003c0004t0003g0154	2	420	0.0048	-57	c.224 others(74): Show c.2244+662_2244+718delATTTGGGCAGCCTCCCAAGCCAGGGTAA GCTCAGGGCCCTTTTTTTTTTTTTTTTTT		FIRRM	ENSG00000000460.17	transcript	ENST00000359326.9	protein_coding	23/24					INFO_REALIGN_3_PRIME	chr1	TogoVar
FLT3_chr13_27998274_28105576	28008388	TAATAGGC others(50): Show TAATAGGCAATATCCATTTTTGCTCCTTCTCCCTCTTTCCCCTTCTTCTT CTTAAGCA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0135 a0002c0002t0002g0135	1	292	0.0034	-57	c.286 others(76): Show c.2860-4271_2860-4215delTGCTTAAGAAGAAGAAGGGGAAAGAG GGAGAAGGAGCAAAAATGGATATTGCCTATT		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding	23/23						chr13	TogoVar
FNBP1_chr9_129882187_130048189	130047124	AGTGGGCC others(50): Show AGTGGGCCGTGATTGCACCATTAGACTATGGCCAGGGTGACAGCAAGACC CAGTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	212	0.0047	-57	c.-42 others(68): Show c.-4206_-4150delAGAGACTGGGTCTTGCTGTCACCCTGGCCATAGT CTAATGGTGCAATCACGGCCCAC		FNBP1	ENSG00000187239.19	transcript	ENST00000446176.7	protein_coding					3936		chr9	TogoVar
FNDC11_chr20_63549159_63561695	63559621	CAGTCAGA others(50): Show CAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGT CAGGTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01361.hp1 HG01346.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	416	0.0048	-57	c.30 others(68): Show c.3002_*3058delAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGT GGGAGGAGTCAGGGTCAGGTCGG		FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding					2927		chr20	TogoVar
FOXN3_chr14_89151177_89422233	89360795	ACCACCTC others(50): Show ACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAG CACCACCT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0167 a0001c0001t0087g0167	1	230	0.0044	-57	c.544 others(75): Show c.544-10044_544-9988delAGGTGGTGCTGGAGGTGGTAGTGGTGG AGGTGGTGGTGGAGGTGGTGCTGGAGGTGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89360873	ACCTCCAC others(50): Show ACCTCCACCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAG CACCACCT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0140 a0001c0001t0015g0140	1	230	0.0044	-57	c.544 others(76): Show c.544-10122_544-10066delAGGTGGTGCTGGAGGTGGTGGTGGTG GAGGTGGTGGTGGTGGAGGTGGTGGTGGAGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361200	ACCACCAC others(50): Show ACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAG CACCACCT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0197 a0001c0001t0053g0197	1	230	0.0044	-57	c.544 others(76): Show c.544-10449_544-10393delAGGTGGTGCTGGAGGTGGTGGTGGTG GAGGTGGTGGTGGTGGAGGTGGTGGTGGTGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362037	CACCACCA others(50): Show CACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCT CCACCACT	C C	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0079 a0001c0001t0009g0079	1	230	0.0044	-57	c.544 others(76): Show c.544-11286_544-11230delAGTGGTGGAGGTGGTGCTGGAGGTGG TAGTGGTGGAGGTGGTGGTGGAGGTGGTGGT		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362215	ACCACCTC others(50): Show ACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCACCAC CTCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	230	0.0044	-57	c.544 others(76): Show c.544-11464_544-11408delAGGAGGAGGTGGTGGTGGTGCTGGAG GTGGTGGTGGTGGAGGTGGTGCTGGAGGTGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362556	CTCCACCA others(50): Show CTCCACCACCACCACCACCACCATCTCTACGACCACCACCACCACCACCA TCTCTACG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01243.hp2 HG02109.hp2 others(2): Show HG01070.hp1 HG01243.hp2 HG02109.hp2 NA18522.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0062 others(2): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0062 a0001c0001t0064 a0001c0001t0068	a0001c0001t0001g0119 a0001c0001t0020g0003 a0001c0001t0062g0117 others(2): Show a0001c0001t0001g0119 a0001c0001t0020g0003 a0001c0001t0062g0117 a0001c0001t0064g0160 a0001c0001t0068g0169	5	230	0.0217	-57	c.544 others(76): Show c.544-11805_544-11749delCGTAGAGATGGTGGTGGTGGTGGTGG TCGTAGAGATGGTGGTGGTGGTGGTGGTGGA		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362624	CCTCCACC others(50): Show CCTCCACCACCATCTCCACCACCACCACCACCATCTCCACCACCACCTCC ACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00741.hp1 others(12): Show HG00140.hp2 HG00609.hp1 HG00741.hp1 HG01109.hp2 HG02040.hp1 HG02300.hp2 HG03654.hp2 NA18612.hp1 NA18967.hp1 NA18968.hp1 NA18980.hp1 NA18995.hp2 NA18999.hp1 NA19007.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0019 a0001c0001t0026 a0001c0001t0059 a0001c0001t0070 a0001c0001t0086 a0001c0001t0092	a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0081 others(12): Show a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0081 a0001c0001t0003g0194 a0001c0001t0004g0196 a0001c0001t0006g0078 a0001c0001t0007g0061 a0001c0001t0008g0032 a0001c0001t0017g0037 a0001c0001t0019g0001 a0001c0001t0026g0031 a0001c0001t0059g0055 a0001c0001t0070g0070 a0001c0001t0086g0130 a0001c0001t0092g0024	15	230	0.0652	-57	c.544 others(76): Show c.544-11873_544-11817delATGGTGGTGGAGGTGGTGGTGGAGAT GGTGGTGGTGGTGGTGGAGATGGTGGTGGAG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362689	ACCACCAC others(50): Show ACCACCACCACCACCACCACCACCACCACCATCTCCACCACCACCTCCAC CACCATCT	A A	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0148 a0001c0001t0009g0148	1	230	0.0044	-57	c.544 others(76): Show c.544-11938_544-11882delAGATGGTGGTGGAGGTGGTGGTGGAG ATGGTGGTGGTGGTGGTGGTGGTGGTGGTGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FREM2_chr13_38682077_38892131	38813464	TTCTCTCT others(50): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0033 a0033	a0033c0040 a0033c0040	a0033c0040t0003 a0033c0040t0003	a0033c0040t0003g0005 a0033c0040t0003g0005	1	262	0.0038	-57	c.601 others(78): Show c.6019+28700_6019+28756delCTCTCTCTCTCCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT		FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
FREM2_chr13_38682077_38892131	38813518	CCTCTCTC others(50): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA TATATATA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02809.hp2 HG02145.hp1 HG02809.hp2	a0006 a0026 a0006 a0026	a0006c0016 a0026c0052 a0006c0016 a0026c0052	a0006c0016t0021 a0026c0052t0003 a0006c0016t0021 a0026c0052t0003	a0006c0016t0021g0246 a0026c0052t0003g0122 a0006c0016t0021g0246 a0026c0052t0003g0122	2	262	0.0076	-57	c.601 others(78): Show c.6019+28711_6019+28767delCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTATATATATATA		FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23						chr13	TogoVar
FSHR_chr2_48957157_49159515	49127773	TTCTTCTT others(50): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	350	0.0029	-57	c.152 others(76): Show c.152+26436_152+26492delGGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9						chr2	TogoVar
GAB3_chrX_154670249_154756077	154672274	TCTTCTTC others(50): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCCTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0086 a0001c0001t0018g0086	1	257	0.0039	-57	c.58 others(68): Show c.5847_*5903delGGGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAG		GAB3	ENSG00000160219.12	transcript	ENST00000424127.3	protein_coding					2974		chrX	TogoVar
GABPB1_chr15_50270389_50360198	50340953	ATATTACA others(50): Show ATATTACATATTACATATGGTTTATTACCATATGTAATATTACATATTAC ATATGGTT	A A	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	366	0.0027	-57	c.-1+ others(74): Show c.-1+13975_-1+14031delAACCATATGTAATATGTAATATTACATA TGGTAATAAACCATATGTAATATGTAATA		GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8						chr15	TogoVar
GABRG3_chr15_26966181_27546984	27388107	GGAAAAGA others(50): Show GGAAAAGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGA AGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG04115.hp2 HG02145.hp1 HG02258.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0015 a0001c0003t0019 a0001c0006t0003 a0001c0001t0015 a0001c0003t0019 a0001c0006t0003	a0001c0001t0015g0013 a0001c0003t0019g0064 a0001c0006t0003g0020 a0001c0001t0015g0013 a0001c0003t0019g0064 a0001c0006t0003g0020	3	92	0.0326	-57	c.574 others(76): Show c.574+59220_574+59276delGAAAAGAAGGAAGGAAGGAAAGGAGG GAGGGAGGGTAAGGAAGGAAGGAAGAAAGGA		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9						chr15	TogoVar
GAK_chr4_844277_937316	860172	TCCCAGCT others(50): Show TCCCAGCTACCCAGGGGGGCTGCGGTGGGAGGATCGCTCCAGCCCAGGGG TTGACGGC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18950.hp1 NA18950.hp2 others(1): Show HG03486.hp1 NA18950.hp1 NA18950.hp2 NA18986.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0003c0006t0001 a0001c0001t0001 a0001c0001t0002 a0003c0006t0001	a0001c0001t0001g0274 a0001c0001t0002g0125 a0001c0001t0002g0147 others(1): Show a0001c0001t0001g0274 a0001c0001t0002g0125 a0001c0001t0002g0147 a0003c0006t0001g0364	4	390	0.0103	-57	c.316 others(74): Show c.3167-507_3167-451delGCCGTCAACCCCTGGGCTGGAGCGATCC TCCCACCGCAGCCCCCCTGGGTAGCTGGG		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	23/27						chr4	TogoVar
GAS6_chr13_113815549_113869076	113842102	GCCCCAGT others(50): Show GCCCCAGTTTCCTCCATACGCCTCAATTTCCTCTGTATGCTTCAGTTTCC TCCATACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00738.hp2 others(16): Show HG00140.hp1 HG00639.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG02809.hp2 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03453.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG04204.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0016 a0006c0010 a0007c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0007t0001 a0001c0016t0001 a0006c0010t0001 a0007c0012t0001	a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0003g0003 others(15): Show a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0003g0003 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0002t0001g0050 a0001c0002t0001g0131 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0002g0001 a0001c0007t0001g0127 a0001c0007t0001g0128 a0001c0016t0001g0126 a0006c0010t0001g0133 a0007c0012t0001g0129	19	143	0.1329	-57	c.344 others(74): Show c.344-2309_344-2253delTGTATGGAGGAAACTGAAGCATACAGAG GAAATTGAGGCGTATGGAGGAAACTGGGG		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	4/14						chr13	TogoVar
GATB_chr4_151665504_151766007	151731878	GCAGCCAC others(50): Show GCAGCCACCCAGCAGCCGCCCCATCCGGGAGGGAGGTGGGGGTCAGCCCC CGCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 others(1): Show a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309	4	320	0.0125	-57	c.328 others(76): Show c.328-12397_328-12341delGCCCGGCGGGGGCTGACCCCCACCTC CCTCCCGGATGGGGCGGCTGCTGGGTGGCTG		GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	2/12						chr4	TogoVar

Search by Variant

Search

Search Results