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
GAS2L3_chr12_100568684_100633288	100572812	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02738.hp1 HG03490.hp1 others(3): Show HG01106.hp1 HG02738.hp1 HG03490.hp1 NA18978.hp2 NA19075.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0005 a0001c0001t0001 a0001c0004t0005	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0101 a0001c0001t0001g0184 a0001c0004t0005g0243	6	402	0.0149	-15	c.-11 others(26): Show c.-1124_-1110delAAAAAAAAAAAAAAA		GAS2L3	ENSG00000139354.11	transcript	ENST00000547754.6	protein_coding					871		chr12	TogoVar
GAS2L3_chr12_100568684_100633288	100596089	CTCTACTA others(8): Show CTCTACTAAATACAGT	C C	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	402	0.0025	-15	c.18+ others(30): Show c.18+1170_18+1184delTACTAAATACAGTTC		GAS2L3	ENSG00000139354.11	transcript	ENST00000547754.6	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
GAS2L3_chr12_100568684_100633288	100599662	TTATTCAT others(8): Show TTATTCATTCATTCAA	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	402	0.0025	-15	c.19- others(28): Show c.19-719_19-705delTATTCATTCATTCAA		GAS2L3	ENSG00000139354.11	transcript	ENST00000547754.6	protein_coding	3/9						chr12	TogoVar
GAS2_chr11_22661611_22818001	22686553	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG02615.hp1 others(5): Show HG01243.hp2 HG02258.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp2 HG03041.hp2 HG03225.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0005t0001	a0001c0001t0001g0020 a0001c0001t0001g0073 a0001c0001t0001g0251 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0073 a0001c0001t0001g0251 a0001c0001t0002g0003 a0001c0001t0002g0248 a0001c0001t0005g0018 a0001c0001t0005g0247 a0001c0005t0001g0258	8	272	0.0294	-15	c.267 others(30): Show c.267+798_267+812delAAAAAAAAAAAAAAA		GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
GAS6_chr13_113815549_113869076	113836270	AGGAGGGG others(8): Show AGGAGGGGGAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03130.hp2 HG01891.hp2 HG03130.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0023 a0001c0001 a0006c0023	a0001c0001t0001 a0006c0023t0003 a0001c0001t0001 a0006c0023t0003	a0001c0001t0001g0048 a0006c0023t0003g0002 a0001c0001t0001g0048 a0006c0023t0003g0002	2	143	0.0140	-15	c.590 others(30): Show c.590-650_590-636delCCCTTCTCCCCCTCC		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14						chr13	TogoVar
GAS7_chr17_9905606_10203606	10016751	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0005g0140 a0001c0001t0005g0141	2	218	0.0092	-15	c.304 others(32): Show c.304+3011_304+3025delATTATTATTATTATT		GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	2/13						chr17	TogoVar
GASK1B_chr4_158119474_158178025	158121933	CCAGACCA others(8): Show CCAGACCACCCCCCAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01496.hp1 HG04228.hp1 HG01175.hp2 HG01496.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0162 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0162	3	292	0.0103	-15	c.54 others(26): Show c.5459_*5473delTTGGGGGGTGGTCTG		GASK1B	ENSG00000164125.16	transcript	ENST00000585682.6	protein_coding					2540		chr4	TogoVar
GASK1B_chr4_158119474_158178025	158141920	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG01106.hp1 others(21): Show HG00140.hp1 HG00558.hp2 HG01106.hp1 HG01123.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01891.hp2 HG01975.hp2 HG02109.hp1 HG02572.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03225.hp1 NA18522.hp1 NA18906.hp1 NA18957.hp1 NA18975.hp2 NA18982.hp1 NA18982.hp2 NA19087.hp2 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0004 a0001c0001 a0001c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0030 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0030 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0002t0014 a0004c0004t0005	a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0061 others(18): Show a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0078 a0001c0001t0001g0098 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0002g0139 a0001c0001t0002g0179 a0001c0001t0030g0213 a0001c0002t0004g0181 a0001c0002t0005g0006 a0001c0002t0005g0039 a0001c0002t0005g0040 a0001c0002t0005g0041 a0001c0002t0005g0044 a0001c0002t0005g0052 a0001c0002t0005g0053 a0001c0002t0012g0042 a0001c0002t0014g0055 a0004c0004t0005g0043	24	292	0.0822	-15	c.112 others(36): Show c.1126-10923_1126-10909delAAAAAAAAAAAAAAA		GASK1B	ENSG00000164125.16	transcript	ENST00000585682.6	protein_coding	3/4						chr4	TogoVar
GATA5_chr20_62458497_62480995	62477143	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02280.hp1 HG02630.hp2 others(10): Show HG02056.hp1 HG02280.hp1 HG02630.hp2 HG02647.hp2 HG02735.hp1 HG02896.hp2 HG03654.hp2 HG03942.hp2 NA18906.hp2 NA18960.hp1 NA18981.hp2 NA19012.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0017 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0016 a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0004t0007 a0001c0017t0007 a0002c0005t0001	a0001c0001t0001g0280 a0001c0001t0003g0277 a0001c0003t0001g0276 others(10): Show a0001c0001t0001g0280 a0001c0001t0003g0277 a0001c0003t0001g0276 a0001c0003t0002g0286 a0001c0003t0016g0275 a0001c0004t0001g0285 a0001c0004t0003g0287 a0001c0004t0003g0290 a0001c0004t0005g0278 a0001c0004t0007g0282 a0001c0017t0007g0292 a0001c0017t0007g0293 a0002c0005t0001g0008	13	382	0.0340	-15	c.-12 others(26): Show c.-1250_-1236delGAAAGAAAGAAAGAA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1149		chr20	TogoVar
GATA6_chr18_22164589_22207528	22177944	GTTTTTTT others(8): Show GTTTTTTTGTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp2 HG02809.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	286	0.0070	-15	c.130 others(32): Show c.1302+831_1302+845delGTTTTTTTTTTTTTT		GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
GATAD1_chr7_92442482_92465075	92447840	CGGCGCGG others(8): Show CGGCGCGGGCAGCGGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02155.hp2 HG02155.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0034 a0006c0006t0001g0034	1	330	0.0030	-15	c.117 others(22): Show c.117_131delGGGCAGCGGGGGCGC	p.Gly others(11): Show p.Gly40_Ala44del	GATAD1	ENSG00000157259.8	transcript	ENST00000287957.5	protein_coding	1/5	365/4571	117/810	39/269		INFO_REALIGN_3_PRIME	chr7	TogoVar
GATAD2A_chr19_19400675_19513932	19487597	TCCCCCGA others(8): Show TCCCCCGAGTGGAACC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp2 HG02622.hp2 others(5): Show HG02257.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02886.hp2 HG03041.hp2 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0005 a0001c0001t0005 a0001c0004t0005	a0001c0001t0005g0013 a0001c0001t0005g0016 a0001c0001t0005g0017 others(5): Show a0001c0001t0005g0013 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0004t0005g0015 a0001c0004t0005g0019	8	298	0.0269	-15	c.270 others(32): Show c.270-4706_270-4692delCCCGAGTGGAACCCC		GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
GATAD2B_chr1_153799725_153927972	153815081	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0036 a0001c0001t0006g0036	1	349	0.0029	-15	c.121 others(34): Show c.1216+1177_1216+1191delTTTTTTTTTTTTTTT		GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	7/10						chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153833817	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02451.hp1 HG02486.hp1 others(5): Show HG01433.hp2 HG02451.hp1 HG02486.hp1 HG02895.hp2 HG02896.hp2 HG03041.hp1 HG03195.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0025 others(3): Show a0001c0001t0004 a0001c0001t0016 a0001c0001t0025 a0001c0001t0027 a0001c0001t0033 a0001c0001t0067	a0001c0001t0004g0347 a0001c0001t0016g0342 a0001c0001t0025g0345 others(5): Show a0001c0001t0004g0347 a0001c0001t0016g0342 a0001c0001t0025g0345 a0001c0001t0025g0346 a0001c0001t0027g0343 a0001c0001t0033g0341 a0001c0001t0033g0344 a0001c0001t0067g0330	8	349	0.0229	-15	c.-1- others(30): Show c.-1-5484_-1-5470delCTTTTTTTTTTTTTT		GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10						chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153898317	AAAAAAAG others(8): Show AAAAAAAGAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0161 a0001c0001t0016g0161	1	349	0.0029	-15	c.-2+ others(32): Show c.-2+24401_-2+24415delCTTTTTTTCTTTTTT		GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10						chr1	TogoVar
GATC_chr12_120441444_120468749	120441952	AATTATTA others(8): Show AATTATTATTATTATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp2 HG03486.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0105 a0001c0001t0005g0106	2	408	0.0049	-15	c.-45 others(26): Show c.-4528_-4514delATTATTATTATTATT		GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding					4491		chr12	TogoVar
GATD1_chr11_762222_782487	763071	AGTCTTAC others(8): Show AGTCTTACCGATTTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01192.hp2 HG02615.hp2 HG00642.hp1 HG01192.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0031 a0001c0001t0058 a0001c0001t0005 a0001c0001t0031 a0001c0001t0058	a0001c0001t0005g0022 a0001c0001t0031g0140 a0001c0001t0058g0102 a0001c0001t0005g0022 a0001c0001t0031g0140 a0001c0001t0058g0102	3	430	0.0070	-15	c.78 others(26): Show c.7811_*7825delACAAATCGGTAAGAC		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding					4150		chr11	TogoVar
GATD1_chr11_762222_782487	763182	TTCACCTG others(8): Show TTCACCTGCCCCGCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0072 a0001c0002t0015g0072	1	430	0.0023	-15	c.77 others(26): Show c.7700_*7714delGGGCGGGGCAGGTGA		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding					4039		chr11	TogoVar
GATD1_chr11_762222_782487	763251	ATCCCCGC others(8): Show ATCCCCGCCCTCACCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0034 a0001c0001t0019g0034	1	430	0.0023	-15	c.76 others(26): Show c.7631_*7645delCGGTGAGGGCGGGGA		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding					3970		chr11	TogoVar
GATD1_chr11_762222_782487	763299	TCCCCGCC others(8): Show TCCCCGCCCTCACCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(130): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02056.hp2 HG02132.hp2 HG02148.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02602.hp1 HG02622.hp2 HG02738.hp1 HG02965.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04204.hp1 NA18612.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19082.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0016 a0002c0005 a0008c0017 a0009c0010	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(15): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0011 a0001c0002t0013 a0001c0002t0015 a0001c0002t0025 a0001c0003t0004 a0001c0006t0002 a0001c0006t0026 a0001c0007t0003 a0001c0016t0002 a0002c0005t0003 a0002c0005t0013 a0008c0017t0028 a0009c0010t0002	a0001c0001t0001g0001 a0001c0001t0001g0135 a0001c0001t0006g0031 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0135 a0001c0001t0006g0031 a0001c0001t0006g0071 a0001c0002t0002g0002 a0001c0002t0002g0005 a0001c0002t0002g0020 a0001c0002t0002g0027 a0001c0002t0002g0036 a0001c0002t0002g0062 a0001c0002t0002g0065 a0001c0002t0002g0069 a0001c0002t0002g0080 a0001c0002t0002g0104 a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0010 a0001c0002t0003g0024 a0001c0002t0003g0029 a0001c0002t0003g0033 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0077 a0001c0002t0003g0084 a0001c0002t0003g0105 a0001c0002t0008g0030 a0001c0002t0008g0032 a0001c0002t0008g0061 a0001c0002t0011g0039 a0001c0002t0011g0106 a0001c0002t0013g0074 a0001c0002t0015g0075 a0001c0002t0025g0068 a0001c0003t0004g0003 a0001c0006t0002g0067 a0001c0006t0026g0066 a0001c0007t0003g0079 a0001c0007t0003g0081 a0001c0016t0002g0078 a0002c0005t0003g0008 a0002c0005t0013g0046 a0008c0017t0028g0070 a0009c0010t0002g0063	133	430	0.3093	-15	c.75 others(26): Show c.7583_*7597delCAGGTGAGGGCGGGG		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding					3922		chr11	TogoVar
GBE1_chr3_81484703_81766645	81714544	ATATAATT others(8): Show ATATAATTCCTGTAAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	304	0.0033	-15	c.144 others(32): Show c.144-8946_144-8932delGTTACAGGAATTATA		GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15						chr3	TogoVar
GBF1_chr10_102240532_102387896	102293764	GTTTTGTG others(8): Show GTTTTGTGTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01934.hp1 HG02074.hp2 others(7): Show HG01928.hp1 HG01934.hp1 HG02074.hp2 HG02273.hp1 NA18612.hp2 NA18964.hp2 NA18994.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0020 a0001c0001 a0014c0020	a0001c0001t0001 a0014c0020t0003 a0001c0001t0001 a0014c0020t0003	a0001c0001t0001g0154 a0001c0001t0001g0175 a0001c0001t0001g0179 others(7): Show a0001c0001t0001g0154 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0201 a0014c0020t0003g0312	10	330	0.0303	-15	c.163 others(34): Show c.163+33653_163+33667delGTGTTTTTTTTTTTT		GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
GBP1_chr1_89047319_89070208	89064207	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0174 a0003c0003t0002g0174	1	430	0.0023	-15	c.-20 others(30): Show c.-20+938_-20+952delACACACACACACACA		GBP1	ENSG00000117228.11	transcript	ENST00000370473.5	protein_coding	1/10						chr1	TogoVar
GCAT_chr22_37802934_37821897	37821384	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02258.hp1 HG02572.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0032 a0005c0008t0002g0032	2	390	0.0051	-15	c.46 others(26): Show c.4667_*4681delTTTTTTTTTTTTTTT		GCAT	ENSG00000100116.17	transcript	ENST00000248924.11	protein_coding					4488		chr22	TogoVar
GCA_chr2_162339132_162368123	162345093	ATGGTGGT others(8): Show ATGGTGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0136	1	366	0.0027	-15	c.27+ others(28): Show c.27+847_27+861delGGTGGTGGTGGTGGT		GCA	ENSG00000115271.11	transcript	ENST00000437150.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
GCH1_chr14_54837017_54907826	54870335	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	346	0.0029	-15	c.344 others(32): Show c.344-4914_344-4900delTTTTTTTTTTTTTTT		GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5						chr14	TogoVar
GCH1_chr14_54837017_54907826	54880486	TATATATA others(8): Show TATATATATATACTCC	T T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	346	0.0029	-15	c.344 others(34): Show c.344-15065_344-15051delGGAGTATATATATAT		GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5						chr14	TogoVar
GCH1_chr14_54837017_54907826	54880539	TATATATA others(8): Show TATATATATATACTCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	346	0.0029	-15	c.344 others(34): Show c.344-15118_344-15104delGGAGTATATATATAT		GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5						chr14	TogoVar
GCH1_chr14_54837017_54907826	54880601	TATATATA others(8): Show TATATATATATACTCC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02257.hp1 HG02280.hp1 HG01496.hp1 HG02257.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012	3	346	0.0087	-15	c.344 others(34): Show c.344-15180_344-15166delGGAGTATATATATAT		GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5						chr14	TogoVar
GCH1_chr14_54837017_54907826	54880776	TATATATA others(8): Show TATATATATATACTCC	T T	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18964.hp1 NA18957.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0202 a0001c0001t0001g0141 a0001c0001t0001g0202	2	346	0.0058	-15	c.344 others(34): Show c.344-15355_344-15341delGGAGTATATATATAT		GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5						chr14	TogoVar
GCH1_chr14_54837017_54907826	54880795	TATATATA others(8): Show TATATATATATACTCC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	346	0.0029	-15	c.344 others(34): Show c.344-15374_344-15360delGGAGTATATATATAT		GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5						chr14	TogoVar
GCK_chr7_44139275_44194439	44174854	CTCTTCTT others(8): Show CTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02486.hp2 HG02622.hp1 others(1): Show HG01256.hp1 HG02486.hp2 HG02622.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0064 a0001c0001t0001g0142 a0001c0001t0005g0113 others(1): Show a0001c0001t0001g0064 a0001c0001t0001g0142 a0001c0001t0005g0113 a0001c0001t0005g0141	4	392	0.0102	-15	c.45+ others(32): Show c.45+14040_45+14054delAGAAGAAGAAGAAGA		GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9						chr7	TogoVar
GCLC_chr6_53492341_53550101	53517249	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG02895.hp2 others(3): Show HG01243.hp1 HG02451.hp2 HG02895.hp2 HG02897.hp1 NA18972.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0013 a0005c0010 a0001c0001 a0001c0013 a0005c0010	a0001c0001t0005 a0001c0001t0007 a0001c0001t0034 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0034 a0001c0001t0045 a0001c0013t0042 a0005c0010t0007	a0001c0001t0005g0276 a0001c0001t0007g0371 a0001c0001t0034g0127 others(3): Show a0001c0001t0005g0276 a0001c0001t0007g0371 a0001c0001t0034g0127 a0001c0001t0045g0292 a0001c0013t0042g0387 a0005c0010t0007g0372	6	426	0.0141	-15	c.447 others(32): Show c.447-1042_447-1028delAAAAAAAAAAAAAAA		GCLC	ENSG00000001084.13	transcript	ENST00000650454.1	protein_coding	3/15						chr6	TogoVar
GCM1_chr6_53121961_53153841	53142000	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03579.hp1 HG02132.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0219 a0001c0001t0014g0036 a0001c0001t0005g0219 a0001c0001t0014g0036	2	412	0.0049	-15	c.75+ others(30): Show c.75+3543_75+3557delTTTTTTTTTTTTTTT		GCM1	ENSG00000137270.11	transcript	ENST00000259803.8	protein_coding	2/5						chr6	TogoVar
GCN1_chr12_120122202_120199715	120124754	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02280.hp2 others(12): Show HG01891.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03453.hp2 NA18522.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0014 a0001c0018 others(3): Show a0001c0004 a0001c0014 a0001c0018 a0001c0025 a0001c0032 a0001c0033	a0001c0004t0001 a0001c0014t0001 a0001c0018t0001 others(3): Show a0001c0004t0001 a0001c0014t0001 a0001c0018t0001 a0001c0025t0001 a0001c0032t0001 a0001c0033t0002	a0001c0004t0001g0018 a0001c0004t0001g0027 a0001c0004t0001g0081 others(12): Show a0001c0004t0001g0018 a0001c0004t0001g0027 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0084 a0001c0004t0001g0085 a0001c0004t0001g0086 a0001c0004t0001g0087 a0001c0004t0001g0088 a0001c0014t0001g0079 a0001c0014t0001g0080 a0001c0018t0001g0032 a0001c0025t0001g0083 a0001c0032t0001g0033 a0001c0033t0002g0030	15	312	0.0481	-15	c.30 others(26): Show c.3080_*3094delAAAAAAAAAAAAAAA		GCN1	ENSG00000089154.11	transcript	ENST00000300648.7	protein_coding					2447		chr12	TogoVar
GCN1_chr12_120122202_120199715	120195844	CGCTTGAA others(8): Show CGCTTGAACCCGAGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02572.hp1 HG02809.hp1 others(1): Show HG01099.hp1 HG02572.hp1 HG02809.hp1 HG02818.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0231 a0001c0011t0001g0247 a0001c0011t0001g0248 others(1): Show a0001c0011t0001g0231 a0001c0011t0001g0247 a0001c0011t0001g0248 a0001c0011t0001g0249	4	312	0.0128	-15	c.-11 others(26): Show c.-1162_-1148delCTCTCGGGTTCAAGC		GCN1	ENSG00000089154.11	transcript	ENST00000300648.7	protein_coding					1130		chr12	TogoVar
GCN1_chr12_120122202_120199715	120196874	TGGCAGCA others(8): Show TGGCAGCAGCCACAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	312	0.0032	-15	c.-21 others(26): Show c.-2192_-2178delCCTGTGGCTGCTGCC		GCN1	ENSG00000089154.11	transcript	ENST00000300648.7	protein_coding					2160		chr12	TogoVar
GCNT2_chr6_10516351_10634368	10537712	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0008 a0001c0001t0012g0008	1	324	0.0031	-15	c.925 others(32): Show c.925+7881_925+7895delAAAAAAAAAACAAAA		GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10563768	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	324	0.0031	-15	c.925 others(34): Show c.925+33934_925+33948delAAAAAAAAATATATA		GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10563770	AAAAAAAA others(8): Show AAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0314 a0001c0001t0004g0314	1	324	0.0031	-15	c.925 others(34): Show c.925+33936_925+33950delAAAAAAATATATATA		GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10563772	AAAAAAAT others(8): Show AAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0213 a0001c0001t0005g0213	1	324	0.0031	-15	c.925 others(34): Show c.925+33938_925+33952delAAAAATATATATATA		GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10563774	AAAAATAT others(8): Show AAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02559.hp1 others(2): Show HG02055.hp1 HG02280.hp2 HG02559.hp1 HG02965.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0001 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0003g0235 others(2): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0009g0033	5	324	0.0154	-15	c.925 others(34): Show c.925+33940_925+33954delAAATATATATATATA		GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10563770	AAAAAAAA others(8): Show AAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0330 a0001c0004t0003g0330	1	344	0.0029	-15	c.919 others(32): Show c.919+6430_919+6444delAAAAAAATATATATA		GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10563772	AAAAAAAT others(8): Show AAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0301 a0001c0001t0005g0301	1	344	0.0029	-15	c.919 others(32): Show c.919+6432_919+6446delAAAAATATATATATA		GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10563774	AAAAATAT others(8): Show AAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02559.hp1 others(2): Show HG02055.hp2 HG02280.hp2 HG02559.hp1 HG02965.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0004g0275 others(2): Show a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0004g0275 a0001c0001t0004g0277 a0001c0001t0008g0303	5	344	0.0145	-15	c.919 others(32): Show c.919+6434_919+6448delAAATATATATATATA		GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCSH_chr16_81076945_81101395	81079750	AAAAAAAA others(8): Show AAAAAAAAAGAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01433.hp2 HG01952.hp1 others(9): Show HG00558.hp1 HG01433.hp2 HG01952.hp1 HG01952.hp2 NA18939.hp2 NA18967.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19083.hp1 NA19091.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0002 a0001c0001t0012 a0002c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0012 a0002c0002t0002 a0002c0005t0008	a0001c0001t0002g0094 a0001c0001t0012g0090 a0002c0002t0002g0002 others(3): Show a0001c0001t0002g0094 a0001c0001t0012g0090 a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0005t0008g0071 a0002c0005t0008g0072	12	354	0.0339	-15	c.31 others(26): Show c.3101_*3115delCTTTTTCTTTTTTTT		GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding					2194		chr16	TogoVar
GCSH_chr16_81076945_81101395	81086162	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	354	0.0028	-15	c.292 others(32): Show c.292+1424_292+1438delTTTTTTTTTTTTTTT		GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding	3/4						chr16	TogoVar
GC_chr4_71736697_71789079	71754831	TCCCAACA others(8): Show TCCCAACAATGTAAAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	388	0.0026	-15	c.116 others(32): Show c.1164+132_1164+146delTTTTACATTGTTGGG		GC	ENSG00000145321.13	transcript	ENST00000273951.13	protein_coding	9/12						chr4	TogoVar
GDAP1L1_chr20_44242308_44285947	44276429	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	392	0.0026	-15	c.761 others(32): Show c.761-2525_761-2511delGAAAGAAAGAAAGAA		GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
GDAP2_chr1_117858485_117934621	117915832	TTGACATA others(8): Show TTGACATATGGTTTTA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	364	0.0028	-15	c.316 others(32): Show c.316+2750_316+2764delTAAAACCATATGTCA		GDAP2	ENSG00000196505.11	transcript	ENST00000369443.10	protein_coding	3/13						chr1	TogoVar

Search by Variant

Search

Search Results