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
GLMP_chr1_156287688_156300679	156296607	T T	TATATATA others(15): Show TATATATAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02074.hp2 others(1): Show HG01070.hp1 HG01071.hp1 HG02074.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	396	0.0101	22	c.-96 others(31): Show c.-963_-962insCTCTCTCTCTCTCTCTATATAT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		929		chr1	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TATATATA others(15): Show TATATATATAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18963.hp1 NA18943.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	396	0.0051	22	c.-96 others(31): Show c.-963_-962insCTCTCTCTCTCTCTATATATAT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		929		chr1	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TATATATA others(15): Show TATATATATATAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 NA20752.hp2 HG02300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	396	0.0051	22	c.-96 others(31): Show c.-963_-962insCTCTCTCTCTCTATATATATAT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		929		chr1	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TATATATA others(15): Show TATATATATATATAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	22	c.-96 others(31): Show c.-963_-962insCTCTCTCTCTATATATATATAT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		929		chr1	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TATATATA others(15): Show TATATATATATATATAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	22	c.-96 others(31): Show c.-963_-962insCTCTCTCTATATATATATATAT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		929		chr1	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TATATATA others(15): Show TATATATATATATATATAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	22	c.-96 others(31): Show c.-963_-962insCTCTCTATATATATATATATAT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		929		chr1	TogoVar
GLO1_chr6_38670925_38708145	38693685	C C	CTCTCTCT others(15): Show CTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	410	0.0024	22	c.85- others(37): Show c.85-6712_85-6711insTATATATATATATAGAGAGAGA	GLO1	ENSG00000124767.7	transcript	ENST00000373365.5	protein_coding	1/5			chr6	TogoVar
GLOD5_chrX_48756747_48778648	48766985	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01993.hp1 HG02895.hp1 others(3): Show HG00741.hp2 HG01993.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0179 a0001c0001t0002g0015 a0001c0001t0002g0149 others(1): Show a0001c0001t0001g0179 a0001c0001t0002g0015 a0001c0001t0002g0149 a0001c0001t0002g0172	6	269	0.0223	22	c.201 others(39): Show c.201+1033_201+1034insAAAAAAAAAAAAAAAAAAAAAA	GLOD5	ENSG00000171433.12	transcript	ENST00000303227.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLP2R_chr17_9820924_9897099	9873556	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01517.hp1 HG01981.hp1 HG01106.hp1 HG01517.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0166 a0002c0002t0003g0173 a0002c0002t0003g0221 a0002c0002t0003g0166 a0002c0002t0003g0173 a0002c0002t0003g0221	3	380	0.0079	22	c.114 others(41): Show c.1145+2723_1145+2744dupTTTTTTTTTTTTTTTTTTTTTT	GLP2R	ENSG00000065325.13	transcript	ENST00000262441.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
GLRA1_chr5_151817513_151929851	151849462	T T	TTCCTTTC others(15): Show TTCCTTTCCTTTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	284	0.0035	22	c.912 others(39): Show c.912+1927_912+1928insGAAAGGAAAGGAAAGGAAAGGA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRB_chr4_157071150_157177090	157163829	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG02723.hp2 HG02615.hp2 HG02647.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0183 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0183	3	306	0.0098	22	c.119 others(41): Show c.1198-6600_1198-6579dupGTGTGTGTGTGTGTGTGTGTGT	GLRB	ENSG00000109738.11	transcript	ENST00000264428.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GLRX2_chr1_193091470_193110414	193095717	T T	TATATATA others(15): Show TATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	386	0.0026	22	c.90 others(31): Show c.907_*908insTTATATATATATATATATATAT	GLRX2	ENSG00000023572.10	transcript	ENST00000367439.8	protein_coding		752		chr1	TogoVar
GLT1D1_chr12_128848478_128989968	128874124	C C	CTCCCTTT others(15): Show CTCCCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0269 a0002c0003t0001g0269	1	320	0.0031	22	c.69- others(37): Show c.69-1788_69-1787insCCTTTCTTTCTTTCTTTCTTTC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128931917	G G	GCACGCGC others(15): Show GCACGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18975.hp2 HG00099.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0277 a0001c0001t0006g0013 a0001c0001t0001g0277 a0001c0001t0006g0013	2	320	0.0063	22	c.615 others(39): Show c.615+4766_615+4767insGCGCACACACACACACACACAC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128956158	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	320	0.0031	22	c.781 others(39): Show c.781-1373_781-1372insAAAAAAAAAAAAAAAAAAAAAA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128956171	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02055.hp1 HG02738.hp2 HG00280.hp1 HG02055.hp1 HG02738.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0002 a0001c0002t0003 a0002c0007t0002 a0001c0001t0002 a0001c0002t0003 a0002c0007t0002	a0001c0001t0002g0201 a0001c0002t0003g0138 a0002c0007t0002g0224 a0001c0001t0002g0201 a0001c0002t0003g0138 a0002c0007t0002g0224	3	320	0.0094	22	c.781 others(39): Show c.781-1373_781-1372insAAAAAAAAAAAAAAAAAAGAGA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128973179	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01978.hp1 HG02004.hp1 others(3): Show HG01167.hp2 HG01978.hp1 HG02004.hp1 NA18950.hp1 NA19064.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0003 a0001c0001t0003 a0001c0001t0005 a0001c0002t0003	a0001c0001t0003g0036 a0001c0001t0003g0249 a0001c0001t0003g0257 others(3): Show a0001c0001t0003g0036 a0001c0001t0003g0249 a0001c0001t0003g0257 a0001c0001t0005g0133 a0001c0002t0003g0113 a0001c0002t0003g0121	6	320	0.0188	22	c.880 others(39): Show c.880-9744_880-9723dupTTTTTTTTTTTTTTTTTTTTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128987001	T T	TACATGTG others(15): Show TACATGTGCGTAGAGATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0315 a0002c0003t0001g0315	1	320	0.0031	22	c.39 others(33): Show c.3911_*3912insACATGTGCGTAGAGATATATAC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding		2034		chr12	TogoVar
GLT6D1_chr9_135618648_135644540	135618718	G G	GCAGTGGG others(15): Show GCAGTGGGTGGGGCCTTGTGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	22	c.53 others(33): Show c.5357_*5378dupGCCCACAAGGCCCCACCCACTG	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		4929		chr9	TogoVar
GLT8D2_chr12_103983987_104055187	104007233	G G	GCTCTCTC others(15): Show GCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp2 HG01175.hp1 others(6): Show HG00642.hp1 HG01099.hp2 HG01175.hp1 HG02040.hp2 NA18942.hp1 NA18946.hp2 NA18951.hp2 NA18965.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0167 a0001c0001t0003g0170 others(6): Show a0001c0001t0003g0164 a0001c0001t0003g0167 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0191 a0001c0001t0003g0192	9	416	0.0216	22	c.113 others(39): Show c.113-3949_113-3928dupAGAGAGAGAGAGAGAGAGAGAG	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	4/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104032466	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	416	0.0024	22	c.-16 others(43): Show c.-163-10997_-163-10976dupTTTTTTTTTTTTTTTTTTTTTT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10			chr12	TogoVar
GLYATL3_chr6_49494923_49533078	49509948	C C	CTTCCTTT others(15): Show CTTCCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0087 a0004c0004t0001g0087	1	380	0.0026	22	c.-28 others(39): Show c.-28-2014_-28-2013insTCCTTTCTTTCTTTCTTTCTTT	GLYATL3	ENSG00000203972.10	transcript	ENST00000371197.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
GLYR1_chr16_4798203_4852288	4804933	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0164 a0001c0001t0026g0164	1	352	0.0028	22	c.28 others(31): Show c.281_*302dupCACACACACACACACACACACA	GLYR1	ENSG00000140632.17	transcript	ENST00000321919.14	protein_coding	16/16	302		chr16	TogoVar
GLYR1_chr16_4798203_4852288	4822101	T T	TTTTTGTG others(15): Show TTTTTGTGTTATCTATTTATCTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00673.hp1 others(79): Show HG00323.hp2 HG00544.hp1 HG00673.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG02015.hp1 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18943.hp2 NA18946.hp1 NA18968.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18986.hp1 NA18989.hp1 NA19000.hp2 NA19005.hp1 NA19009.hp1 NA19054.hp1 NA19055.hp2 NA19076.hp1 NA19081.hp2 NA19087.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0004c0010 a0005c0008	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(27): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0036 a0001c0001t0037 a0001c0001t0042 a0001c0001t0043 a0001c0002t0001 a0001c0002t0002 a0002c0003t0005 a0002c0004t0029 a0004c0010t0002 a0005c0008t0002	a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0017 others(78): Show a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0049 a0001c0001t0002g0173 a0001c0001t0002g0222 a0001c0001t0004g0054 a0001c0001t0004g0062 a0001c0001t0004g0077 a0001c0001t0004g0185 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0036 a0001c0001t0005g0038 a0001c0001t0005g0050 a0001c0001t0005g0052 a0001c0001t0006g0045 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0166 a0001c0001t0007g0076 a0001c0001t0007g0079 a0001c0001t0007g0080 a0001c0001t0007g0081 a0001c0001t0007g0082 a0001c0001t0007g0083 a0001c0001t0007g0096 a0001c0001t0007g0184 a0001c0001t0008g0172 a0001c0001t0009g0091 a0001c0001t0010g0020 a0001c0001t0010g0021 a0001c0001t0010g0041 a0001c0001t0010g0048 a0001c0001t0013g0055 a0001c0001t0013g0058 a0001c0001t0013g0097 a0001c0001t0013g0098 a0001c0001t0013g0099 a0001c0001t0014g0210 a0001c0001t0014g0212 a0001c0001t0015g0171 a0001c0001t0018g0027 a0001c0001t0021g0084 a0001c0001t0021g0085 a0001c0001t0022g0214 a0001c0001t0023g0215 a0001c0001t0024g0207 a0001c0001t0025g0170 a0001c0001t0026g0164 a0001c0001t0027g0165 a0001c0001t0028g0168 a0001c0001t0036g0057 a0001c0001t0037g0169 a0001c0001t0042g0044 a0001c0001t0043g0086 a0001c0002t0001g0015 a0001c0002t0002g0244 a0002c0003t0005g0014 a0002c0004t0029g0167 a0004c0010t0002g0028 a0005c0008t0002g0040	82	352	0.2330	22	c.682 others(37): Show c.682-505_682-504insTAGATAAATAGATAACACAAAA	GLYR1	ENSG00000140632.17	transcript	ENST00000321919.14	protein_coding	7/15			chr16	TogoVar
GMCL1_chr2_69824660_69886384	69838336	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	390	0.0026	22	c.384 others(37): Show c.384+673_384+694dupAAAAAAAAAAAAAAAAAAAAAA	GMCL1	ENSG00000087338.5	transcript	ENST00000282570.4	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GMCL1_chr2_69824660_69886384	69859742	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp1 HG01928.hp2 others(21): Show HG00544.hp2 HG00673.hp1 HG01928.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02300.hp2 HG02523.hp2 HG03927.hp1 HG04115.hp2 HG04228.hp2 NA18939.hp1 NA18945.hp2 NA18947.hp1 NA18960.hp2 NA18983.hp2 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA19000.hp1 NA19056.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0008 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0021 a0001c0010t0001	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0119 others(20): Show a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0187 a0001c0001t0001g0206 a0001c0001t0008g0017 a0001c0001t0008g0142 a0001c0001t0021g0166 a0001c0010t0001g0140	24	390	0.0615	22	c.107 others(41): Show c.1073-1520_1073-1519insAAAAAAAAAAAAAAAAAAAAAA	GMCL1	ENSG00000087338.5	transcript	ENST00000282570.4	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GMCL1_chr2_69824660_69886384	69859742	T T	TCTAAAAA others(15): Show TCTAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18951.hp2 NA18947.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0148 a0001c0001t0001g0120 a0001c0001t0001g0148	2	390	0.0051	22	c.107 others(41): Show c.1073-1536_1073-1535insCTAAAAAAAAAAAAAAAAAAAA	GMCL1	ENSG00000087338.5	transcript	ENST00000282570.4	protein_coding	9/13			chr2	TogoVar
GMCL2_chr5_178179505_178192371	178187475	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG04184.hp2 NA19006.hp2 HG01081.hp2 HG04184.hp2 NA19006.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	3	452	0.0066	22	c.-17 others(31): Show c.-177_-176insAAAAAAAAAAAAAAAAAAAAAA	GMCL2	ENSG00000244234.3	transcript	ENST00000463439.3	protein_coding		105		chr5	TogoVar
GMDS_chr6_1618806_2250605	2013925	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02922.hp2 HG02970.hp1 others(3): Show HG01261.hp1 HG02922.hp2 HG02970.hp1 HG03130.hp1 HG03195.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0002g0038 others(3): Show a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0002g0038 a0001c0002t0001g0032 a0001c0002t0001g0093 a0001c0002t0001g0112	6	166	0.0361	22	c.346 others(41): Show c.346-52981_346-52960dupATATATATATATATATATATAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2059707	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03471.hp1 HG06807.hp1 others(2): Show HG02027.hp1 HG03471.hp1 HG06807.hp1 NA19082.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0034 a0001c0001t0001g0055 a0001c0002t0001g0048 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0055 a0001c0002t0001g0048 a0001c0002t0001g0094 a0001c0002t0002g0009	5	166	0.0301	22	c.345 others(41): Show c.345+56063_345+56064insTTTTTTTTTTTTTTTTTTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GML_chr8_142829801_142851851	142843255	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0067 a0002c0002t0003g0067	1	422	0.0024	22	c.181 others(39): Show c.181+2053_181+2074dupACACACACACACACACACACAC	GML	ENSG00000104499.7	transcript	ENST00000220940.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
GNA12_chr7_2723105_2849308	2780046	G G	GTATATGT others(15): Show GTATATGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0308 a0001c0001t0005g0308	1	322	0.0031	22	c.525 others(41): Show c.525+14881_525+14882insTATATATATATATACACATATA	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNA13_chr17_65004289_65061740	65031921	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	180	0.0056	22	c.511 others(41): Show c.511-13619_511-13618insACACACACACTCTCTCTCTCTC	GNA13	ENSG00000120063.10	transcript	ENST00000439174.7	protein_coding	2/3			chr17	TogoVar
GNA14_chr9_77418079_77653322	77493026	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0145 a0001c0001t0006g0145	1	240	0.0042	22	c.309 others(41): Show c.309+36042_309+36043insATATATATATATATATTTTTTT	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GNA14_chr9_77418079_77653322	77493026	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0129 a0001c0001t0006g0129	1	240	0.0042	22	c.309 others(41): Show c.309+36042_309+36043insATATATATATATATATATATAT	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GNA15_chr19_3131033_3168749	3145336	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18964.hp2 NA18981.hp2 HG02056.hp1 NA18964.hp2 NA18981.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0015 a0001c0001 a0006c0015	a0001c0001t0001 a0006c0015t0001 a0001c0001t0001 a0006c0015t0001	a0001c0001t0001g0097 a0001c0001t0001g0149 a0006c0015t0001g0121 a0001c0001t0001g0097 a0001c0001t0001g0149 a0006c0015t0001g0121	3	450	0.0067	22	c.146 others(39): Show c.146-3252_146-3231dupATATATATATATATATATATAT	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNAI2_chr3_50231204_50264362	50248558	G G	GCCCCTGC others(15): Show GCCCCTGCCTCTGTCCCGTTGTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG02922.hp1 others(1): Show HG02451.hp1 HG02572.hp2 HG02922.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0025 a0001c0001t0001g0043 a0001c0001t0001g0044 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0008g0025	4	330	0.0121	22	c.119 others(39): Show c.119-3537_119-3516dupTGCCTCTGTCCCGTTGTTCCCC	GNAI2	ENSG00000114353.17	transcript	ENST00000313601.11	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
GNAL_chr18_11684264_11890685	11788908	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0153 a0001c0001t0097g0153	1	248	0.0040	22	c.624 others(41): Show c.624+34964_624+34965insTATATATATATATATATATATA	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11788908	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0118 a0001c0001t0079g0118	1	284	0.0035	22	c.393 others(41): Show c.393+34964_393+34965insTATATATATATATATATATATA	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAO1_chr16_56186489_56362444	56300036	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0087 a0001c0002t0002g0087	1	298	0.0034	22	c.303 others(41): Show c.303+23965_303+23966insTGTGTGTGTGTGTGTGTGCGCG	GNAO1	ENSG00000087258.16	transcript	ENST00000262493.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
GNAQ_chr9_77711097_78036811	77828059	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0002 a0001c0001t0035g0002	1	282	0.0036	22	c.322 others(41): Show c.322-12311_322-12290dupTTTTTTTTTTTTTTTTTTTTTT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GNAT3_chr7_80453635_80517064	80472379	G G	GCAGTGTA others(15): Show GCAGTGTATAGTGTGTATAGTGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	334	0.0030	22	c.590 others(39): Show c.590+1871_590+1872insTCACTATACACACTATACACTG	GNAT3	ENSG00000214415.4	transcript	ENST00000398291.4	protein_coding	5/7			chr7	TogoVar
GNB1L_chr22_19778223_19859874	19847804	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0254 a0001c0001t0029g0254	1	326	0.0031	22	c.-21 others(39): Show c.-21+6638_-21+6639insTTTTTTTTTTTTTTTTTTTTTT	GNB1L	ENSG00000185838.14	transcript	ENST00000329517.11	protein_coding	2/7			chr22	TogoVar
GNB1_chr1_1780286_1896087	1864314	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	336	0.0030	22	c.-95 others(41): Show c.-95-25098_-95-25077dupTTTTTTTTTTTTTTTTTTTTTT	GNB1	ENSG00000078369.19	transcript	ENST00000378609.9	protein_coding	1/11			chr1	TogoVar
GNB1_chr1_1780286_1896087	1876492	C C	CGAGAGAG others(15): Show CGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0326 a0001c0001t0002g0326	1	336	0.0030	22	c.-96 others(41): Show c.-96+14306_-96+14327dupTCTCTCTCTCTCTCTCTCTCTC	GNB1	ENSG00000078369.19	transcript	ENST00000378609.9	protein_coding	1/11			chr1	TogoVar
GNB5_chr15_52110100_52196392	52111173	A A	AACACACA others(15): Show AACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 NA18984.hp2 HG00558.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0113 a0001c0002t0135 a0001c0001t0113 a0001c0002t0135	a0001c0001t0113g0021 a0001c0002t0135g0270 a0001c0001t0113g0021 a0001c0002t0135g0270	2	366	0.0055	22	c.11 others(35): Show c.11562_*11583dupGTGTGTGTGTGTGTGTGTGTGT	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding		3926		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(15): Show ATATATATATATATATATATAAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0156 a0001c0005t0156	a0001c0005t0156g0261 a0001c0005t0156g0261	1	366	0.0027	22	c.56 others(33): Show c.5654_*5655insATTATATATATATATATATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0032 a0001c0001t0118g0032	1	366	0.0027	22	c.56 others(33): Show c.5654_*5655insAAAAAAAAAAAAAAAAAAAAAA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52119425	A A	AGGGAGGA others(15): Show AGGGAGGAGGAGATGGGAGGGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0113 a0001c0001t0040g0113	1	366	0.0027	22	c.33 others(33): Show c.3331_*3332insCTCCCTCCCATCTCCTCCTCCC	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	3331		chr15	TogoVar
GNB5_chr15_52110100_52196392	52135852	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03041.hp2 HG02135.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0088 a0001c0003t0119 a0001c0001t0088 a0001c0003t0119	a0001c0001t0088g0114 a0001c0003t0119g0094 a0001c0001t0088g0114 a0001c0003t0119g0094	2	366	0.0055	22	c.628 others(36): Show c.628-118_628-97dupGTGTGTGTGTGTGTGTGTGTGT	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	7/12			chr15	TogoVar

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