Joint Open Genome and Omics Platform (JoGo)

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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
GATD1_chr11_762222_782487	763267	T T	CCCCCGCC others(41): Show CCCCCGCCCTCACCCGCCCCCCGCCCTCACCCGCCCCCGCCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0023	1	391	0.0026	48	c.76 others(58): Show c.7630delAinsCGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGGCGG GTGAGGGCGGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3955		chr11	TogoVar
GBP2_chr1_89101132_89131114	89102931	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0062 a0002c0002t0005g0062	1	409	0.0024	48	c.52 others(59): Show c.5243_*5244insATATATATATATATATTATATATATATATATATA TATATATATATATA	GBP2	ENSG00000162645.13	transcript	ENST00000370466.4	protein_coding		3200		chr1	TogoVar
GBP2_chr1_89101132_89131114	89102931	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0063 a0002c0002t0005g0063	1	409	0.0024	48	c.52 others(59): Show c.5243_*5244insATATATATATATATTATATATATATATATATATA TATATATATATATA	GBP2	ENSG00000162645.13	transcript	ENST00000370466.4	protein_coding		3200		chr1	TogoVar
GBP2_chr1_89101132_89131114	89102931	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0065 a0002c0002t0005g0065	1	409	0.0024	48	c.52 others(59): Show c.5243_*5244insATATATATATATTATATATATATATATATATATA TATATATATATATA	GBP2	ENSG00000162645.13	transcript	ENST00000370466.4	protein_coding		3200		chr1	TogoVar
GCN1_chr12_120122202_120199715	120198059	G G	GCACCCTC others(41): Show GCACCCTCAACCTCTAAAAGGCTTTGACTGCAAATGTGAGTCTCATGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0125 a0001c0002t0002g0125	1	310	0.0032	48	c.-33 others(59): Show c.-3363_-3362insTGCATGAGACTCACATTTGCAGTCAAAGCCTTTT AGAGGTTGAGGGTG	GCN1	ENSG00000089154.11	transcript	ENST00000300648.7	protein_coding		3345		chr12	TogoVar
GCNT2_chr6_10516351_10634368	10569235	C C	CCACACAC others(41): Show CCACACACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	95	0.0105	48	c.925 others(67): Show c.925+39438_925+39439insACACACACACACACACACACACACAC ACACACACACACACACACACAC	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(41): Show CCACACACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0341 a0001c0001t0001g0341	1	103	0.0097	48	c.919 others(67): Show c.919+11932_919+11933insACACACACACACACACACACACACAC ACACACACACACACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT3_chr15_59606783_59627723	59610507	C C	CTCCTTCC others(41): Show CTCCTTCCTTCCATCCCTCCTTCCGTCCCTCCTTCCTTCCCTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0040 a0003c0004t0040	a0003c0004t0040g0048 a0003c0004t0040g0048	1	326	0.0031	48	c.-17 others(59): Show c.-1725_-1724insTCCTTCCTTCCATCCCTCCTTCCGTCCCTCCTTC CTTCCCTCCTTCCT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		1275		chr15	TogoVar
GDPD1_chr17_59215511_59280970	59255863	A A	ATATATAT others(41): Show ATATATATATACACGTATATATATATATATATATATATATACACACACG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0234 a0001c0001t0007g0234	1	275	0.0036	48	c.368 others(65): Show c.368-1249_368-1248insCACGTATATATATATATATATATATATA TACACACACGTATATATATA	GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
GFOD1_chr6_13352830_13492600	13409088	G G	GGAAAGAA others(41): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	165	0.0061	48	c.254 others(67): Show c.254-43474_254-43427dupTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTC	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFPT1_chr2_69314780_69392227	69391360	A A	AGAAATAT others(41): Show AGAAATATATAAAAAATTAAAAATAGAATGATAAATAATAATAGCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0140 a0001c0002t0017g0140	1	364	0.0027	48	c.-42 others(59): Show c.-4290_-4289insAGAAGCTATTATTATTTATCATTCTATTTTTAAT TTTTTATATATTTC	GFPT1	ENSG00000198380.13	transcript	ENST00000357308.9	protein_coding		4134		chr2	TogoVar
GHRHR_chr7_30958953_30984528	30968640	C C	CCCTCCCT others(41): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03225.hp1 NA19240.hp1 HG02109.hp2 HG03225.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0108 a0003c0003t0001g0152 a0003c0003t0001g0160 a0003c0003t0001g0108 a0003c0003t0001g0152 a0003c0003t0001g0160	3	365	0.0082	48	c.58- others(61): Show c.58-191_58-190insCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCT	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHRHR_chr7_30958953_30984528	30968640	C C	CCCTCCCT others(41): Show CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	363	0.0028	48	c.58- others(61): Show c.58-191_58-190insCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCT	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHR_chr5_42418439_42726878	42474285	A A	AAGAAAGA others(41): Show AAGAAAGAAAAAGAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0083 a0001c0008t0007g0084 a0001c0008t0007g0083 a0001c0008t0007g0084	2	152	0.0132	48	c.-12 others(67): Show c.-12+50331_-12+50332insGAAAGAAAAAGAGAAAGAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42474295	G G	GAAAGAAA others(41): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18967.hp1 NA18939.hp2 NA18967.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0016 a0001c0004t0011 a0001c0004t0016	a0001c0004t0011g0001 a0001c0004t0016g0027 a0001c0004t0011g0001 a0001c0004t0016g0027	2	13	0.1538	48	c.-12 others(67): Show c.-12+50341_-12+50342insAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42474295	G G	GAGAAAGA others(41): Show GAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0067 a0001c0001t0005g0067	1	12	0.0833	48	c.-12 others(67): Show c.-12+50347_-12+50348insGAAAGAAAGAAAGAAAGAAAGAAAGA GAAAGAAAGAAAGAAAGAAAGA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42583878	G G	GATATATA others(41): Show GATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0027 a0001c0004t0016g0027	1	175	0.0057	48	c.70+ others(65): Show c.70+17953_70+17954insTATATATATATATATATATATATATATA TATATATATATATATATATA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GIPC1_chr19_14472762_14501127	14496041	T T	TCCGCCGC others(41): Show TCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02056.hp1 NA18962.hp2 NA19002.hp2 HG02056.hp1 NA18962.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0048 a0001c0001t0019g0324 a0001c0001t0019g0048 a0001c0001t0019g0324	3	196	0.0153	48	c.-18 others(57): Show c.-180_-179insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGGCGGCGG	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	1/9	13066		chr19	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(41): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01433.hp1 HG01891.hp1 HG00735.hp1 HG01433.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	3	222	0.0135	48	c.204 others(63): Show c.204+500_204+501insGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(41): Show GGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01943.hp2 others(20): Show HG00609.hp1 HG00609.hp2 HG01943.hp2 HG02004.hp2 HG02071.hp1 HG02451.hp2 HG02523.hp2 HG02896.hp2 HG03209.hp2 HG03688.hp2 NA18747.hp2 NA18955.hp2 NA18979.hp2 NA18992.hp2 NA19001.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19083.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0085 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0085 a0001c0001t0001g0097	23	242	0.0950	48	c.204 others(63): Show c.204+500_204+501insGGAAGGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(41): Show GGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	220	0.0045	48	c.204 others(63): Show c.204+500_204+501insGGAAGGAAGGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN1_chr2_68969636_68985976	68978294	A A	AAGAAAGA others(41): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0087 a0001c0003t0003g0087	1	362	0.0028	48	c.204 others(63): Show c.204+523_204+524insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAGAGA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GLB1L3_chr11_134271379_134324564	134308348	C C	CACCATCA others(41): Show CACCATCACCATCACCATCATCACCATCACCTCCACCACCACCACCACT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0099 a0001c0005t0002g0099	1	419	0.0024	48	c.961 others(65): Show c.961+1141_961+1142insCCATCACCATCACCATCATCACCATCAC CTCCACCACCACCACCACTA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGAAAG others(41): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0231 a0001c0010t0001g0231	1	20	0.0500	48	c.76- others(63): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(41): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	20	0.0500	48	c.76- others(63): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03654.hp2 NA19010.hp2 HG02976.hp2 HG03654.hp2 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0002c0003 a0001c0005 a0002c0002 a0002c0003	a0001c0005t0001 a0002c0002t0002 a0002c0003t0001 a0001c0005t0001 a0002c0002t0002 a0002c0003t0001	a0001c0005t0001g0234 a0002c0002t0002g0283 a0002c0003t0001g0319 a0001c0005t0001g0234 a0002c0002t0002g0283 a0002c0003t0001g0319	3	22	0.1364	48	c.76- others(63): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0282 a0002c0002t0002g0282	1	20	0.0500	48	c.76- others(63): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCCTTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02040.hp1 NA18948.hp1 others(2): Show HG02027.hp2 HG02040.hp1 NA18948.hp1 NA18983.hp1 NA19074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0258 a0002c0003t0001g0308 a0002c0003t0001g0309 others(2): Show a0002c0003t0001g0258 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0310 a0002c0003t0001g0311	5	24	0.2083	48	c.76- others(63): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTCCTTCCTTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19009.hp1 HG02723.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0015 a0002c0003t0001g0297 a0001c0001t0001g0015 a0002c0003t0001g0297	2	21	0.0952	48	c.76- others(63): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTCC TTCCTTCCTTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19076.hp2 HG00621.hp2 NA19076.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0011c0016 a0002c0002 a0011c0016	a0002c0002t0002 a0011c0016t0001 a0002c0002t0002 a0011c0016t0001	a0002c0002t0002g0286 a0011c0016t0001g0342 a0002c0002t0002g0286 a0011c0016t0001g0342	2	21	0.0952	48	c.76- others(63): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTCCTTCC TTCCTTCCTTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	20	0.0500	48	c.76- others(63): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLCE_chr15_69155635_69277207	69177684	C C	CCTTTATC others(41): Show CCTTTATCATCTTTACTTCATGCCGCTTTATCATCTTTACTTCATGCCG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02717.hp1 HG01255.hp1 HG02717.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0128 a0002c0002t0002g0127 a0001c0001t0003g0128 a0002c0002t0002g0127	2	322	0.0062	48	c.-10 others(69): Show c.-105+16951_-105+16998dupGCTTTATCATCTTTACTTCATGCC GCTTTATCATCTTTACTTCATGCC	GLCE	ENSG00000138604.10	transcript	ENST00000261858.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
GLDC_chr9_6527467_6650729	6629942	T T	TGTATATA others(41): Show TGTATATATATATATATGTATATATATATATATATATATATATGTATAC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	338	0.0030	48	c.335 others(65): Show c.335-9624_335-9623insGTATACATATATATATATATATATATAT ATACATATATATATATATAC	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLI4_chr8_143262445_143281931	143268859	C C	CTGCTGCT others(41): Show CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	50	0.0200	48	c.-37 others(63): Show c.-37-499_-37-498insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTGCTGCTGTTG	GLI4	ENSG00000250571.7	transcript	ENST00000340042.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
GLRX2_chr1_193091470_193110414	193098171	T T	TGCAGGGC others(41): Show TGCAGGGCTAAGTAGGTCGAAGAGCAAGGTCCTATTACCGCATAAGAGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	384	0.0026	48	c.184 others(63): Show c.184-412_184-411insTCTCTTATGCGGTAATAGGACCTTGCTCTT CGACCTACTTAGCCCTGC	GLRX2	ENSG00000023572.10	transcript	ENST00000367439.8	protein_coding	2/3			chr1	TogoVar
GLT1D1_chr12_128848478_128989968	128874057	C C	CTGCCTCC others(41): Show CTGCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03209.hp2 NA19240.hp2 HG02896.hp1 HG03209.hp2 NA19240.hp2	a0003 a0005 a0010 a0003 a0005 a0010	a0003c0005 a0005c0009 a0010c0011 a0003c0005 a0005c0009 a0010c0011	a0003c0005t0002 a0005c0009t0008 a0010c0011t0004 a0003c0005t0002 a0005c0009t0008 a0010c0011t0004	a0003c0005t0002g0318 a0005c0009t0008g0023 a0010c0011t0004g0139 a0003c0005t0002g0318 a0005c0009t0008g0023 a0010c0011t0004g0139	3	294	0.0102	48	c.69- others(63): Show c.69-1856_69-1855insGCCTCCCTCCCTCCCTCCCTCCTTTCTTTC TTTCTTTCTTTCTTTCTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GNA12_chr7_2723105_2849308	2763191	A A	AACACACA others(41): Show AACACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	32	0.0313	48	c.526 others(67): Show c.526-29691_526-29690insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNA14_chr9_77418079_77653322	77493026	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0219 a0001c0004t0002g0219	1	64	0.0156	48	c.309 others(67): Show c.309+36042_309+36043insATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTTT	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GNA15_chr19_3131033_3168749	3140044	A A	AAAAAATC others(41): Show AAAAAATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02109.hp2 HG01070.hp2 HG01071.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0293 a0001c0001t0001g0020 a0001c0001t0001g0293	3	35	0.0857	48	c.145 others(65): Show c.145+3450_145+3451insAAAATCTATCTATCTATCTATCTATCTA TCTATCTATCTATCTATGTA	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3140044	A A	AAAAAATC others(41): Show AAAAAATCTATCTATCTATCTATCTATCTATCTATCTATGTATCTATCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18953.hp2 NA18983.hp2 HG00099.hp2 NA18953.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0320 a0001c0002t0001g0327 a0001c0003t0001g0286 a0001c0002t0001g0320 a0001c0002t0001g0327 a0001c0003t0001g0286	3	35	0.0857	48	c.145 others(65): Show c.145+3450_145+3451insAAAATCTATCTATCTATCTATCTATCTA TCTATCTATGTATCTATCTA	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNAL_chr18_11684264_11890685	11804105	G G	GTGGAACA others(41): Show GTGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCAGTTTGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG01433.hp2 others(14): Show HG00735.hp1 HG01243.hp1 HG01433.hp2 HG01891.hp2 HG02129.hp1 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG02738.hp2 HG02886.hp2 HG03139.hp1 HG03195.hp2 HG03492.hp2 HG03834.hp2 HG04184.hp1 HG04204.hp2 NA18947.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0010 a0001c0001t0033 a0001c0001t0036 others(14): Show a0001c0001t0010 a0001c0001t0033 a0001c0001t0036 a0001c0001t0059 a0001c0001t0072 a0001c0001t0085 a0001c0001t0109 a0001c0001t0120 a0001c0001t0127 a0001c0001t0130 a0001c0001t0138 a0001c0001t0141 a0001c0001t0149 a0001c0001t0159 a0001c0001t0180 a0001c0001t0181 a0002c0003t0049	a0001c0001t0010g0119 a0001c0001t0033g0044 a0001c0001t0036g0237 others(14): Show a0001c0001t0010g0119 a0001c0001t0033g0044 a0001c0001t0036g0237 a0001c0001t0059g0232 a0001c0001t0072g0168 a0001c0001t0085g0111 a0001c0001t0109g0090 a0001c0001t0120g0124 a0001c0001t0127g0181 a0001c0001t0130g0156 a0001c0001t0138g0157 a0001c0001t0141g0166 a0001c0001t0149g0130 a0001c0001t0159g0243 a0001c0001t0180g0242 a0001c0001t0181g0241 a0002c0003t0049g0029	17	225	0.0756	48	c.625 others(67): Show c.625-20772_625-20725dupAGTTTGGATGGAACACGGAGATACTG TGTAGTGGTGAAGTACAGGTGC	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11684264_11890685	11804146	A A	AGTTTGGA others(41): Show AGTTTGGATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0188 a0001c0001t0010g0188	1	234	0.0043	48	c.625 others(67): Show c.625-20247_625-20200dupTGCGGTTTGGATGGAACACGGAGATA CTGTGTAGTGGTGAAGTACAGG	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11804105	G G	GTGGAACA others(41): Show GTGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCAGTTTGGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp2 HG00735.hp1 others(20): Show HG00639.hp2 HG00673.hp2 HG00735.hp1 HG01243.hp1 HG01433.hp2 HG01891.hp1 HG02129.hp2 HG02559.hp1 HG02615.hp2 HG02717.hp2 HG02738.hp1 HG02886.hp1 HG03139.hp1 HG03195.hp1 HG03491.hp1 HG03492.hp1 HG03688.hp2 HG03834.hp2 HG04184.hp2 HG04204.hp2 NA18947.hp1 NA18951.hp1 NA19054.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(17): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0021 a0001c0001t0037 a0001c0001t0044 a0001c0001t0047 a0001c0001t0052 a0001c0001t0064 a0001c0001t0084 a0001c0001t0107 a0001c0001t0108 a0001c0001t0110 a0001c0001t0126 a0001c0001t0132 a0001c0001t0157 a0001c0001t0158 a0001c0001t0168 a0002c0004t0014	a0001c0001t0001g0214 a0001c0001t0005g0060 a0001c0001t0005g0210 others(20): Show a0001c0001t0001g0214 a0001c0001t0005g0060 a0001c0001t0005g0210 a0001c0001t0005g0233 a0001c0001t0006g0239 a0001c0001t0012g0212 a0001c0001t0021g0247 a0001c0001t0021g0248 a0001c0001t0037g0244 a0001c0001t0044g0234 a0001c0001t0047g0243 a0001c0001t0052g0056 a0001c0001t0064g0211 a0001c0001t0084g0213 a0001c0001t0107g0057 a0001c0001t0108g0284 a0001c0001t0110g0051 a0001c0001t0126g0242 a0001c0001t0132g0241 a0001c0001t0157g0059 a0001c0001t0158g0058 a0001c0001t0168g0249 a0002c0004t0014g0236	23	261	0.0881	48	c.394 others(67): Show c.394-20772_394-20725dupAGTTTGGATGGAACACGGAGATACTG TGTAGTGGTGAAGTACAGGTGC	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11804146	A A	AGTTTGGA others(41): Show AGTTTGGATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0140 a0001c0001t0005g0140	1	268	0.0037	48	c.394 others(67): Show c.394-20247_394-20200dupTGCGGTTTGGATGGAACACGGAGATA CTGTGTAGTGGTGAAGTACAGG	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAQ_chr9_77711097_78036811	77894339	T T	TATATATA others(41): Show TATATATAATAGAAAATATATAATATATATATTTAATAGAAAATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02717.hp2 HG02055.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0038 a0001c0001t0013g0039 a0001c0001t0013g0038 a0001c0001t0013g0039	2	280	0.0071	48	c.321 others(67): Show c.321+27821_321+27822insTATATATTTTCTATTAAATATATATA TTATATATTTTCTATTATATAT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GNAS_chr20_58834748_58916192	58874640	T T	TATCTTAG others(41): Show TATCTTAGCTCCTGGCCTGCCCTCCATCTTAGCTCCTGGCCTGCCCTCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01928.hp1 HG02809.hp1 others(7): Show HG01255.hp2 HG01928.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG03195.hp1 HG03486.hp2 HG03516.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0030 a0001c0001t0001g0089 a0001c0001t0001g0129 others(6): Show a0001c0001t0001g0030 a0001c0001t0001g0089 a0001c0001t0001g0129 a0001c0001t0002g0126 a0001c0001t0004g0006 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0005g0112	10	300	0.0333	48	c.43 others(67): Show c.43-20928_*43-20927insCTCCATCTTAGCTCCTGGCCTGCCCT CCATCTTAGCTCCTGGCCTGCC	GNAS	ENSG00000087460.29	transcript	ENST00000371075.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
GNAS_chr20_58847716_58916192	58874640	T T	TATCTTAG others(41): Show TATCTTAGCTCCTGGCCTGCCCTCCATCTTAGCTCCTGGCCTGCCCTCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01928.hp2 HG02809.hp2 others(7): Show HG01255.hp1 HG01928.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG03195.hp1 HG03486.hp1 HG03516.hp2 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0004t0001 a0002c0003t0002	a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0004g0241 others(6): Show a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0004g0241 a0001c0002t0001g0010 a0001c0002t0001g0044 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0004t0001g0208 a0002c0003t0002g0276	10	300	0.0333	48	c.206 others(69): Show c.2068+19351_2068+19352insCTCCATCTTAGCTCCTGGCCTGCC CTCCATCTTAGCTCCTGGCCTGCC	GNAS	ENSG00000087460.29	transcript	ENST00000371100.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
GNAT3_chr7_80453635_80517064	80493640	C C	CTCCTCCT others(41): Show CTCCTCCTCCTCCTCTTTCCTCCTCCTCCTCTTTCCTCCTCCTCCTCTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0211 a0001c0002t0002g0211	1	322	0.0031	48	c.161 others(63): Show c.161+917_161+964dupAAGAGGAGGAGGAGGAAAGAGGAGGAGGAG GAAAGAGGAGGAGGAGGA	GNAT3	ENSG00000214415.4	transcript	ENST00000398291.4	protein_coding	2/7			chr7	TogoVar
GNAT3_chr7_80453635_80517064	80493784	A A	ACCTCTTT others(41): Show ACCTCTTTCCTCCTCCTCCTCTTTCCTCCTCCTCCTCTTTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	253	0.0040	48	c.161 others(63): Show c.161+773_161+820dupAGGAGGAGGAAAGAGGAGGAGGAGGAAAGA GGAGGAGGAGGAAAGAGG	GNAT3	ENSG00000214415.4	transcript	ENST00000398291.4	protein_coding	2/7			chr7	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0191 a0001c0001t0191	a0001c0001t0191g0262 a0001c0001t0191g0262	1	159	0.0063	48	c.56 others(59): Show c.5654_*5655insAAAATATATATATATATATATATATATATATATA TATATATATATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar

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