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
GALR1_chr18_77244848_77282900	77281062	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01099.hp1 HG01952.hp1 others(11): Show HG00639.hp2 HG01099.hp1 HG01952.hp1 HG01978.hp2 HG02129.hp1 HG03453.hp2 HG04228.hp1 NA18941.hp2 NA18949.hp2 NA18953.hp2 NA18978.hp1 NA18988.hp1 NA19054.hp1 NA19056.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(10): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0001t0019 a0001c0001t0023 a0001c0001t0110 a0001c0002t0047 a0001c0002t0131 a0001c0004t0004 a0003c0005t0012 a0003c0005t0045 a0003c0005t0109	a0001c0001t0003g0084 a0001c0001t0005g0302 a0001c0001t0008g0289 others(11): Show a0001c0001t0003g0084 a0001c0001t0005g0302 a0001c0001t0008g0289 a0001c0001t0015g0267 a0001c0001t0019g0234 a0001c0001t0023g0231 a0001c0001t0023g0232 a0001c0001t0110g0071 a0001c0002t0047g0189 a0001c0002t0131g0201 a0001c0004t0004g0317 a0003c0005t0012g0062 a0003c0005t0045g0051 a0003c0005t0109g0041	14	68	0.2059	34	c.12 others(47): Show c.12160_*12161insATATATATATATATATATATATATATATATAT AT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3163		chr18	TogoVar
GALR1_chr18_77244848_77282900	77281090	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0036 a0009c0014t0036	a0009c0014t0036g0113 a0009c0014t0036g0113	1	334	0.0030	34	c.12 others(47): Show c.12188_*12189insATATATATATATATATATATATATATATATAT AA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3191		chr18	TogoVar
GAP43_chr3_115618510_115726483	115698213	A A	AATATATA others(27): Show AATATATAATATATAATATATAATATATATAAAAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	325	0.0031	34	c.628 others(53): Show c.628+21624_628+21625insATATATATAAAATATATATAATATAT AATATATA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAPVD1_chr9_125256826_125372207	125293860	A A	ATATAAAT others(27): Show ATATAAATATATTTTATATATATATAAATATATTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18974.hp2 NA19060.hp1 others(1): Show HG00609.hp2 NA18974.hp2 NA19060.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0277 others(1): Show a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0278	4	303	0.0132	34	c.-14 others(53): Show c.-149-1594_-149-1593insAATATATTTTATATATATATAAATAT ATTTTATA	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAREM1_chr18_32258522_32475882	32364026	A A	ATATATAT others(27): Show ATATATATATATGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0009 a0002c0005t0004g0009	1	130	0.0077	34	c.262 others(53): Show c.262+28868_262+28869insAAAAAAAAAAAAAAAAAAAAAACATA TATATATA	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5			chr18	TogoVar
GARIN2_chr14_67184440_67228940	67212597	A A	AAAAAATA others(27): Show AAAAAATATATATATATGTAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01361.hp2 HG01123.hp1 HG01361.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0198 a0001c0009t0001g0199 a0001c0009t0001g0198 a0001c0009t0001g0199	2	330	0.0061	34	c.116 others(53): Show c.1160+4150_1160+4151insAAATATATATATATGTAATATATATT ATATATAA	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
GARIN2_chr14_67184440_67228940	67212606	T T	TATATGTA others(27): Show TATATGTAATATATATTATATATAATATATATTAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02809.hp2 HG02896.hp2 others(1): Show HG00735.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0008 a0001c0002 a0004c0008	a0001c0002t0001 a0004c0008t0001 a0001c0002t0001 a0004c0008t0001	a0001c0002t0001g0245 a0004c0008t0001g0032 a0004c0008t0001g0191 a0001c0002t0001g0245 a0004c0008t0001g0032 a0004c0008t0001g0191	4	326	0.0123	34	c.116 others(53): Show c.1160+4161_1160+4162insGTAATATATATTATATATAATATATA TTACATAT	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
GARIN5A_chr19_50461788_50481848	50472090	A A	ATGTATAT others(27): Show ATGTATATATACGTGTGTATATGTATATATACGTG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	283	0.0035	34	c.539 others(51): Show c.539+3234_539+3235insCACGTATATATACATATACACACGTATA TATACA	GARIN5A	ENSG00000142530.11	transcript	ENST00000600100.6	protein_coding	3/4			chr19	TogoVar
GAS2L3_chr12_100568684_100633288	100621880	G G	GGAGAGAG others(27): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0023 a0003c0006t0023	a0003c0006t0023g0052 a0003c0006t0023g0052	1	390	0.0026	34	c.649 others(49): Show c.649-394_649-393insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	GAS2L3	ENSG00000139354.11	transcript	ENST00000547754.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
GAS2_chr11_22661611_22818001	22789423	G G	GATATATA others(27): Show GATATATATAAATATATATATATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02040.hp1 NA21309.hp2 HG01975.hp2 HG02040.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002	a0001c0001t0007g0174 a0001c0002t0001g0142 a0001c0002t0002g0152 a0001c0001t0007g0174 a0001c0002t0001g0142 a0001c0002t0002g0152	3	101	0.0297	34	c.724 others(53): Show c.724-22374_724-22373insTATATATAAATATATATATATATAAA TATATATA	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
GASK1B_chr4_158119474_158178025	158149923	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0049 a0001c0002t0004g0049	1	32	0.0313	34	c.112 others(53): Show c.1125+5687_1125+5688insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	GASK1B	ENSG00000164125.16	transcript	ENST00000585682.6	protein_coding	3/4			chr4	TogoVar
GATA5_chr20_62458497_62480995	62471432	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG02970.hp1 others(5): Show HG00609.hp2 HG00639.hp1 HG02970.hp1 HG03239.hp2 HG03927.hp1 NA18947.hp2 NA18990.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0015 others(1): Show a0001c0002 a0001c0004 a0002c0015 a0002c0021	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0004t0003 a0002c0015t0006 a0002c0021t0008	a0001c0002t0001g0026 a0001c0002t0001g0103 a0001c0002t0002g0115 others(4): Show a0001c0002t0001g0026 a0001c0002t0001g0103 a0001c0002t0002g0115 a0001c0002t0006g0138 a0001c0004t0003g0093 a0002c0015t0006g0222 a0002c0021t0008g0248	8	129	0.0620	34	c.699 others(51): Show c.699+1970_699+1971insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6			chr20	TogoVar
GATA6_chr18_22164589_22207528	22204288	C C	CTCTTTCT others(27): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0037 a0002c0002t0002g0037	1	180	0.0056	34	c.34 others(45): Show c.3465_*3466insTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTT	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding		1761		chr18	TogoVar
GATA6_chr18_22164589_22207528	22204303	T T	TTTCTTTC others(27): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	284	0.0035	34	c.34 others(45): Show c.3480_*3481insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding		1776		chr18	TogoVar
GATAD2B_chr1_153799725_153927972	153839108	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	17	0.0588	34	c.-1- others(51): Show c.-1-10761_-1-10760insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATB_chr4_151665504_151766007	151697965	A A	ATGTGTGT others(27): Show ATGTGTGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03492.hp2 NA19006.hp1 others(1): Show HG02572.hp1 HG03492.hp2 NA19006.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0133 a0001c0001t0001g0175 others(1): Show a0001c0001t0001g0093 a0001c0001t0001g0133 a0001c0001t0001g0175 a0001c0001t0001g0178	4	252	0.0159	34	c.119 others(53): Show c.1197+3363_1197+3364insCATATATATATATATATATATATATA TACACACA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151697965	A A	ATGTGTGT others(27): Show ATGTGTGTGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02735.hp1 HG00280.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0179 a0001c0001t0001g0126 a0001c0001t0001g0179	2	250	0.0080	34	c.119 others(53): Show c.1197+3363_1197+3364insCATATATATATATATATATATATATA CACACACA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151735734	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02129.hp2 HG02148.hp1 others(11): Show HG00558.hp1 HG02129.hp2 HG02148.hp1 HG02572.hp1 HG02622.hp1 HG02886.hp1 HG02922.hp1 HG03098.hp2 HG03492.hp2 HG04184.hp2 NA18946.hp1 NA19064.hp2 NA19087.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 others(11): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0188 a0001c0001t0001g0290	14	191	0.0733	34	c.328 others(53): Show c.328-16197_328-16196insTATATATATATATATATATATATATA TATATATA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	2/12			chr4	TogoVar
GCGR_chr17_81799150_81819008	81803692	A A	ACCCGGGG others(27): Show ACCCGGGGACGCGAGAGGAAGGGGGCGAGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03486.hp2 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	2	406	0.0049	34	c.-73 others(43): Show c.-735_-734insCCCGGGGACGCGAGAGGAAGGGGGCGAGGGGGCG	GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding		457		chr17	TogoVar
GCH1_chr14_54837017_54907826	54905608	A A	ATCTCTCT others(27): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	10	0.1000	34	c.-29 others(45): Show c.-2946_-2945insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding		2783		chr14	TogoVar
GCK_chr7_44139275_44194439	44191817	T T	TTGAGACA others(27): Show TTGAGACAGAGTCTCGTTCTATCACGATGCTCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	390	0.0026	34	c.-28 others(45): Show c.-2865_-2864insCCTGAGCATCGTGATAGAACGAGACTCTGTCTCA	GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding		2379		chr7	TogoVar
GCNT2_chr6_10516351_10634368	10569235	C C	CCACACAC others(27): Show CCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02132.hp1 NA18968.hp1 others(4): Show HG00735.hp1 HG02132.hp1 NA18968.hp1 NA18990.hp2 NA19000.hp1 NA19062.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0066 a0001c0001t0001g0124 a0001c0001t0001g0298 others(4): Show a0001c0001t0001g0066 a0001c0001t0001g0124 a0001c0001t0001g0298 a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0002g0096 a0001c0001t0002g0305	7	101	0.0693	34	c.925 others(53): Show c.925+39405_925+39438dupACACACACACACACACACACACACAC ACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569235	C C	CCACACAC others(27): Show CCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18968.hp1 NA18990.hp1 others(3): Show HG00735.hp1 NA18968.hp1 NA18990.hp1 NA19000.hp1 NA19062.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0142 a0001c0001t0001g0205 a0001c0001t0001g0211 others(3): Show a0001c0001t0001g0142 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0002g0101 a0001c0001t0002g0117 a0001c0001t0002g0237	6	108	0.0556	34	c.919 others(53): Show c.919+11899_919+11932dupACACACACACACACACACACACACAC ACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT3_chr15_59606783_59627723	59611084	C C	CCCTCCCC others(27): Show CCCTCCCCCTCCCCTCGCCCTCCCCCTCCCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	266	0.0038	34	c.-11 others(45): Show c.-1148_-1147insCCTCCCCCTCCCCTCGCCCTCCCCCTCCCCTTCT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		698		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59611084	C C	CCCTCCCC others(27): Show CCCTCCCCCTCCCCTTCTCCTCCCCCTCCCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01261.hp2 HG01978.hp2 others(1): Show HG01168.hp2 HG01261.hp2 HG01978.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0066 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0066 a0001c0001t0005g0012	4	269	0.0149	34	c.-11 others(45): Show c.-1148_-1147insCCTCCCCCTCCCCTTCTCCTCCCCCTCCCCTTCT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		698		chr15	TogoVar
GCNT4_chr5_75020346_75057558	75034929	A A	AGGGACAC others(27): Show AGGGACACCCCAGCTAAGCGGACACGACCGCATTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01106.hp1 others(7): Show HG00735.hp1 HG00741.hp2 HG01106.hp1 HG02451.hp1 HG03209.hp1 HG03471.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0022 a0002c0002t0025 a0002c0002t0018 a0002c0002t0022 a0002c0002t0025	a0002c0002t0018g0015 a0002c0002t0018g0242 a0002c0002t0022g0046 others(4): Show a0002c0002t0018g0015 a0002c0002t0018g0242 a0002c0002t0022g0046 a0002c0002t0022g0134 a0002c0002t0022g0142 a0002c0002t0025g0239 a0002c0002t0025g0241	10	380	0.0263	34	c.-1- others(49): Show c.-1-4925_-1-4892dupGAATGCGGTCGTGTCCGCTTAGCTGGGGTG TCCC	GCNT4	ENSG00000176928.7	transcript	ENST00000652361.2	protein_coding	3/3			chr5	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0031 a0002c0004t0002g0031	1	272	0.0037	34	c.21 others(45): Show c.2198_*2199insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding		1277		chr16	TogoVar
GDA_chr9_72144440_72257224	72198846	G G	GATAGATA others(27): Show GATAGATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	182	0.0055	34	c.212 others(51): Show c.212+3261_212+3262insGATATATATATATATATATATATATATA TATATA	GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GDA_chr9_72144440_72257224	72198846	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03486.hp2 NA20300.hp1 HG02630.hp1 HG03486.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0002c0002t0001 a0001c0001t0001 a0001c0001t0008 a0002c0002t0001	a0001c0001t0001g0267 a0001c0001t0008g0271 a0002c0002t0001g0137 a0001c0001t0001g0267 a0001c0001t0008g0271 a0002c0002t0001g0137	3	184	0.0163	34	c.212 others(51): Show c.212+3273_212+3274insTATATATATATATATATATATATATATA TATATA	GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GDPD1_chr17_59215511_59280970	59255835	A A	ATATATAT others(27): Show ATATATATATATACACGTATATATATATATACACG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02293.hp1 HG02572.hp2 others(2): Show HG01891.hp2 HG02293.hp1 HG02572.hp2 HG02818.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0007 a0001c0001t0011	a0001c0001t0007g0241 a0001c0001t0007g0254 a0001c0001t0011g0238 others(2): Show a0001c0001t0007g0241 a0001c0001t0007g0254 a0001c0001t0011g0238 a0001c0001t0011g0242 a0001c0001t0011g0243	5	272	0.0184	34	c.368 others(51): Show c.368-1275_368-1274insCACGTATATATATATATACACGTATATA TATATA	GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPD1_chr17_59215511_59280970	59255835	A A	ATATATAT others(27): Show ATATATATATATATACACGTATATATATATACACG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0244 a0001c0001t0007g0244	1	268	0.0037	34	c.368 others(51): Show c.368-1273_368-1272insCACGTATATATATATACACGTATATATA TATATA	GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPGP1_chr15_90229209_90250811	90235899	T T	TGTCCGAG others(27): Show TGTCCGAGAAAGAGTTAGTCTTCTGTTAGTAAAAG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	436	0.0023	34	c.-67 others(51): Show c.-67+1304_-67+1337dupGTCCGAGAAAGAGTTAGTCTTCTGTTAG TAAAAG	GDPGP1	ENSG00000183208.13	transcript	ENST00000329600.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
GEMIN4_chr17_739421_757264	748848	A A	AGCCACAG others(27): Show AGCCACAGGGTAATGGGCACAGAAGCAATCACACG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00558.hp1 others(72): Show HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG01123.hp1 HG01257.hp1 HG01358.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02074.hp1 HG02109.hp1 HG02145.hp2 HG02559.hp2 HG02818.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03831.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19068.hp2 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp2 NA19091.hp1 NA20805.hp1 NA21309.hp1	a0001 a0008 a0027 others(1): Show a0001 a0008 a0027 a0030	a0001c0001 a0001c0005 a0001c0040 others(5): Show a0001c0001 a0001c0005 a0001c0040 a0008c0010 a0008c0016 a0008c0030 a0027c0029 a0030c0039	a0001c0001t0003 a0001c0005t0003 a0001c0040t0003 others(5): Show a0001c0001t0003 a0001c0005t0003 a0001c0040t0003 a0008c0010t0001 a0008c0016t0001 a0008c0030t0001 a0027c0029t0001 a0030c0039t0003	a0001c0001t0003g0001 a0001c0001t0003g0014 a0001c0001t0003g0043 others(10): Show a0001c0001t0003g0001 a0001c0001t0003g0014 a0001c0001t0003g0043 a0001c0001t0003g0047 a0001c0005t0003g0044 a0001c0040t0003g0046 a0008c0010t0001g0023 a0008c0010t0001g0036 a0008c0010t0001g0088 a0008c0016t0001g0035 a0008c0030t0001g0089 a0027c0029t0001g0090 a0030c0039t0003g0045	75	432	0.1736	34	c.11- others(47): Show c.11-850_11-817dupCGTGTGATTGCTTCTGTGCCCATTACCCTGTG GC	GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding	1/1			chr17	TogoVar
GEMIN4_chr17_739421_757264	748882	G G	GGCCACAG others(27): Show GGCCACAGGGTAATGGGCACAGAAGCAATCACACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	432	0.0023	34	c.11- others(47): Show c.11-851_11-850insTGTGTGATTGCTTCTGTGCCCATTACCCTGTG GC	GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding	1/1			chr17	TogoVar
GET4_chr7_871554_901436	897651	A A	AGGGGGCA others(27): Show AGGGGGCACCTGGGGAAGGGGGGCACCTGGGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG00741.hp2 others(41): Show HG00544.hp1 HG00639.hp2 HG00741.hp2 HG01099.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp2 HG01884.hp1 HG01943.hp2 HG01993.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02132.hp1 HG02148.hp2 HG02723.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03704.hp1 HG03927.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18950.hp1 NA18953.hp1 NA18970.hp1 NA18973.hp2 NA18979.hp2 NA18992.hp1 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19055.hp2 NA19058.hp2 NA19064.hp2 NA19068.hp1 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0015 a0001c0002t0021 a0001c0010t0025 a0001c0010t0026 a0001c0010t0028 a0001c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0041 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0187 a0001c0001t0001g0207 a0001c0001t0001g0226 a0001c0001t0002g0026 a0001c0001t0002g0048 a0001c0002t0001g0031 a0001c0002t0001g0110 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0125 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0047 a0001c0002t0002g0104 a0001c0002t0002g0117 a0001c0002t0002g0124 a0001c0002t0002g0126 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0141 a0001c0002t0002g0144 a0001c0002t0003g0114 a0001c0002t0015g0121 a0001c0002t0021g0113 a0001c0010t0025g0057 a0001c0010t0026g0056 a0001c0010t0028g0055 a0001c0019t0001g0112	44	282	0.1560	34	c.22 others(45): Show c.2229_*2230insGGGGGCACCTGGGGAAGGGGGGCACCTGGGGAAG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding		1216		chr7	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0120 a0001c0003t0001g0120	1	199	0.0050	34	c.41 others(45): Show c.4105_*4106insATATATATATATATATATTTTTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01433.hp1 HG03540.hp2 HG00323.hp1 HG01433.hp1 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0021 a0001c0003 a0001c0021	a0001c0003t0001 a0001c0021t0001 a0001c0003t0001 a0001c0021t0001	a0001c0003t0001g0094 a0001c0003t0001g0271 a0001c0021t0001g0251 a0001c0003t0001g0094 a0001c0003t0001g0271 a0001c0021t0001g0251	3	201	0.0149	34	c.41 others(45): Show c.4105_*4106insATATATATATATATATATATTTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 NA18947.hp2 NA19056.hp2 HG02055.hp2 NA18947.hp2 NA19056.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0011 a0001c0003t0001 a0001c0005t0011	a0001c0003t0001g0294 a0001c0003t0001g0311 a0001c0005t0011g0379 a0001c0003t0001g0294 a0001c0003t0001g0311 a0001c0005t0011g0379	3	201	0.0149	34	c.41 others(45): Show c.4105_*4106insATATATATATATATATATATATTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180320967	A A	ACTTTGTA others(27): Show ACTTTGTATAAAAAGTATACAAATAACTTCGTATG	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0002 a0006c0016t0002	a0006c0016t0002g0044 a0006c0016t0002g0044	1	410	0.0024	34	c.795 others(51): Show c.795-2012_795-2011insCATACGAAGTTATTTGTATACTTTTTAT ACAAAG	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	9/18			chr5	TogoVar
GFRA2_chr8_21685398_21793875	21694071	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0179 a0002c0002t0002g0179	1	306	0.0033	34	c.127 others(51): Show c.1272+392_1272+393insTATATATATATATATATATATATATATA TATATA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01099.hp1 others(18): Show HG00738.hp2 HG01081.hp1 HG01099.hp1 HG01433.hp1 HG01884.hp1 HG02165.hp2 HG02258.hp1 HG02300.hp2 HG02486.hp1 HG03225.hp2 HG03491.hp2 HG03669.hp2 HG03927.hp1 NA18966.hp1 NA18971.hp1 NA18980.hp2 NA19011.hp1 NA19011.hp2 NA19068.hp1 NA19091.hp1 NA20752.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0002c0005 a0002c0007 others(1): Show a0002c0002 a0002c0005 a0002c0007 a0008c0026	a0002c0002t0002 a0002c0002t0003 a0002c0002t0043 others(8): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0043 a0002c0005t0002 a0002c0005t0003 a0002c0005t0015 a0002c0005t0042 a0002c0005t0044 a0002c0007t0002 a0002c0007t0003 a0008c0026t0003	a0002c0002t0002g0031 a0002c0002t0002g0033 a0002c0002t0002g0065 others(18): Show a0002c0002t0002g0031 a0002c0002t0002g0033 a0002c0002t0002g0065 a0002c0002t0002g0114 a0002c0002t0002g0141 a0002c0002t0003g0180 a0002c0002t0003g0204 a0002c0002t0003g0240 a0002c0002t0003g0271 a0002c0002t0003g0272 a0002c0002t0003g0286 a0002c0002t0043g0311 a0002c0005t0002g0053 a0002c0005t0003g0182 a0002c0005t0015g0005 a0002c0005t0015g0176 a0002c0005t0042g0310 a0002c0005t0044g0312 a0002c0007t0002g0164 a0002c0007t0003g0305 a0008c0026t0003g0264	21	171	0.1228	34	c.127 others(51): Show c.1272+388_1272+389insTATATATATATATATATATATATATATA TATATA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TTATTTAT others(27): Show TTATTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0249 a0002c0002t0003g0249	1	151	0.0066	34	c.127 others(51): Show c.1272+388_1272+389insTATATATATATATATATATATATATATA TAAATA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GFUS_chr8_143607618_143622549	143619147	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	162	0.0062	34	c.-16 others(45): Show c.-1686_-1685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GFUS	ENSG00000104522.16	transcript	ENST00000425753.7	protein_coding		1599		chr8	TogoVar
GGA1_chr22_37603834_37638564	37630345	A A	AGACCTGG others(27): Show AGACCTGGGCCCATCTCACAGAGCACAGTTTATGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01433.hp2 HG02129.hp2 others(11): Show HG01243.hp2 HG01433.hp2 HG02129.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02809.hp2 HG02965.hp1 HG02976.hp1 HG03540.hp1 NA18941.hp2 NA19240.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0004c0011	a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 others(3): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 a0001c0004t0004 a0001c0006t0004 a0004c0011t0005	a0001c0001t0005g0124 a0001c0001t0005g0146 a0001c0001t0005g0147 others(8): Show a0001c0001t0005g0124 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0008g0148 a0001c0001t0008g0149 a0001c0001t0017g0126 a0001c0004t0004g0046 a0001c0004t0004g0150 a0001c0004t0004g0151 a0001c0006t0004g0027 a0004c0011t0005g0125	14	368	0.0380	34	c.133 others(51): Show c.1331+187_1331+188insTCTCACAGAGCACAGTTTATGGGACCTG GGCCCA	GGA1	ENSG00000100083.19	transcript	ENST00000343632.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGA2_chr16_23458542_23515494	23467387	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0071 a0002c0002t0071	a0002c0002t0071g0234 a0002c0002t0071g0234	1	47	0.0213	34	c.16 others(43): Show c.169_*202dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GGA2	ENSG00000103365.15	transcript	ENST00000309859.8	protein_coding	17/17	202		chr16	TogoVar
GGNBP2_chr17_36539919_36594848	36575648	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	121	0.0083	34	c.642 others(51): Show c.642-2334_642-2333insATATATATATATATATATATATTTTTTT TTTTTT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGT1_chr22_24598193_24633996	24605023	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp1 HG02809.hp2 HG02280.hp1 HG02809.hp1 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0004 a0002c0003t0003 a0002c0002t0004 a0002c0003t0003	a0002c0002t0004g0053 a0002c0002t0004g0054 a0002c0003t0003g0038 a0002c0002t0004g0053 a0002c0002t0004g0054 a0002c0003t0003g0038	3	391	0.0077	34	c.-42 others(53): Show c.-429+1509_-429+1510insTATATATATATATATATATATATATA TATATATA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605380	T T	TGTATTAT others(27): Show TGTATTATATATTATATAATATGTATTATATATTA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0258 a0002c0002t0029g0258	1	295	0.0034	34	c.-42 others(53): Show c.-429+1853_-429+1854insGTATTATATATTATATAATATGTATT ATATATTA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15			chr22	TogoVar
GGT1_chr22_24598193_24633996	24605966	C C	CATATAAT others(27): Show CATATAATATATCATATATTATATTTATATAATTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02135.hp1 HG00639.hp2 HG02135.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0018 a0001c0001 a0004c0018	a0001c0001t0001 a0004c0018t0001 a0001c0001t0001 a0004c0018t0001	a0001c0001t0001g0231 a0004c0018t0001g0173 a0001c0001t0001g0231 a0004c0018t0001g0173	2	253	0.0079	34	c.-42 others(53): Show c.-428-1868_-428-1835dupTTATATTTATATAATTTATATAATAT ATCATATA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GHR_chr5_42418439_42726878	42576099	T T	TAAAATAA others(27): Show TAAAATAAAATAAAATAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03098.hp2 HG01192.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0031 a0001c0001t0004g0061 a0001c0001t0002g0031 a0001c0001t0004g0061	2	89	0.0225	34	c.70+ others(51): Show c.70+10158_70+10159insATAAAATAAAATAATAAAATAAAATAAA ATAAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results