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
GLI3_chr7_41955949_42242209	41968727	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0145 a0004c0004t0001g0145	1	155	0.0065	32	c.210 others(49): Show c.2104-805_2104-804insCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	13/14			chr7	TogoVar
GLI3_chr7_41955949_42242209	42132245	C C	CGCCTGCC others(25): Show CGCCTGCCACCACGCCTGCCCGCCACCACGCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	86	0.0116	32	c.367 others(51): Show c.367+15980_367+15981insAGGCGTGGTGGCGGGCAGGCGTGGTG GCAGGC	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	3/14			chr7	TogoVar
GLI3_chr7_41955949_42242209	42182658	A A	ATATATAT others(25): Show ATATATATATATATATATATATATACACATGTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0010 a0003c0003t0009g0010	1	154	0.0065	32	c.125 others(51): Show c.125-34222_125-34191dupCACATGTGTATATATATATATATATA TATATA	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14			chr7	TogoVar
GLIPR1_chr12_75475755_75508863	75485533	T T	TTTTATTT others(25): Show TTTTATTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	65	0.0154	32	c.420 others(49): Show c.420+3485_420+3486insATTTATTTATTTATTTATTTATTTATTT ATTT	GLIPR1	ENSG00000139278.10	transcript	ENST00000266659.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLIS1_chr1_53501239_53744164	53709413	C C	CATATATA others(25): Show CATATATACATATATATACATATACATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03195.hp1 HG03486.hp2 HG00642.hp2 HG03195.hp1 HG03486.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0004 a0004c0004t0003 a0004c0004t0007 a0002c0002t0004 a0004c0004t0003 a0004c0004t0007	a0002c0002t0004g0093 a0004c0004t0003g0052 a0004c0004t0007g0053 a0002c0002t0004g0093 a0004c0004t0003g0052 a0004c0004t0007g0053	3	122	0.0246	32	c.259 others(51): Show c.259+28392_259+28393insATATATATGTATATGTATATATATGT ATATAT	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10			chr1	TogoVar
GLIS3_chr9_3819127_4305068	3991683	A A	AATTTTTT others(25): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	19	0.0526	32	c.171 others(53): Show c.1711-54495_1711-54494insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAT	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	4059829	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	57	0.0175	32	c.171 others(53): Show c.1710+57938_1710+57939insTCTCTCTCTCTCTCACACACACAC ACACACAC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10			chr9	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TATAGAGA others(25): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	29	0.0345	32	c.-96 others(41): Show c.-963_-962insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTAT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		929		chr1	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TATATAGA others(25): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	29	0.0345	32	c.-96 others(41): Show c.-963_-962insCTCTCTCTCTCTCTCTCTCTCTCTCTCTATAT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		929		chr1	TogoVar
GLOD5_chrX_48756747_48778648	48766985	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18989.hp1 NA18994.hp1 others(1): Show NA18968.hp2 NA18989.hp1 NA18994.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0071 a0001c0001t0001g0105 a0001c0001t0001g0032 a0001c0001t0001g0071 a0001c0001t0001g0105	4	13	0.3077	32	c.201 others(49): Show c.201+1033_201+1034insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	GLOD5	ENSG00000171433.12	transcript	ENST00000303227.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA1_chr5_151817513_151929851	151849163	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18954.hp2 HG00609.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0111 a0001c0001t0001g0095 a0001c0001t0001g0111	2	173	0.0116	32	c.912 others(49): Show c.912+2226_912+2227insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849249	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	261	0.0038	32	c.912 others(49): Show c.912+2140_912+2141insAAGGGAAGGAAGGAAGGAAGGAAGGAAG GAAG	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849452	T T	TTTCCTTT others(25): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03704.hp1 HG01255.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0070 a0001c0001t0002g0253 a0001c0001t0001g0070 a0001c0001t0002g0253	2	172	0.0116	32	c.912 others(49): Show c.912+1937_912+1938insGGAAGGAAGGAAAGGAAAGGAAAGGAAA GGAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849458	T T	TTCCTTTC others(25): Show TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 NA18995.hp1 HG01884.hp1 HG02055.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0002g0271 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0002g0271	3	213	0.0141	32	c.912 others(49): Show c.912+1931_912+1932insGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA2_chrX_14524536_14736812	14681910	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0185 a0001c0002t0002g0185	1	107	0.0093	32	c.931 others(49): Show c.931-8799_931-8798insAAAAAAAAAATATATATATATATATATA TGTA	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA2_chrX_14524536_14736812	14681910	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0209 a0001c0002t0002g0209	1	107	0.0093	32	c.931 others(49): Show c.931-8799_931-8798insAAAAAAAATATATATATATATATATATA TATA	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA2_chrX_14524536_14736812	14681910	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0218 a0001c0002t0002g0218	1	107	0.0093	32	c.931 others(49): Show c.931-8799_931-8798insAAAATATATATATATATATATATATATA TATA	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA3_chr4_174631920_174834247	174747865	T T	TTAACATT others(25): Show TTAACATTATAGCATATATATATGCTGTTCCAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00621.hp1 others(51): Show HG00408.hp2 HG00558.hp1 HG00621.hp1 HG00733.hp1 HG00735.hp2 HG01175.hp2 HG01243.hp1 HG01943.hp2 HG01993.hp2 HG02015.hp1 HG02056.hp1 HG02083.hp1 HG02132.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02735.hp1 HG02970.hp1 HG03130.hp1 HG03491.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 NA18522.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19080.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 a0001c0001 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0024 a0001c0001t0026 a0001c0001t0039 a0001c0001t0051 a0001c0001t0056 a0001c0001t0061 a0001c0001t0068 a0001c0001t0095 a0001c0005t0002 a0001c0005t0013 a0001c0005t0018 a0001c0005t0036 a0001c0005t0100 a0001c0009t0071	a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0225 others(51): Show a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0225 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0003g0169 a0001c0001t0003g0226 a0001c0001t0003g0231 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0255 a0001c0001t0003g0257 a0001c0001t0003g0273 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0256 a0001c0001t0004g0289 a0001c0001t0005g0098 a0001c0001t0005g0227 a0001c0001t0005g0229 a0001c0001t0005g0248 a0001c0001t0007g0292 a0001c0001t0009g0230 a0001c0001t0010g0177 a0001c0001t0011g0290 a0001c0001t0012g0042 a0001c0001t0024g0228 a0001c0001t0026g0254 a0001c0001t0039g0002 a0001c0001t0051g0286 a0001c0001t0056g0274 a0001c0001t0061g0030 a0001c0001t0068g0068 a0001c0001t0095g0233 a0001c0005t0002g0275 a0001c0005t0013g0258 a0001c0005t0018g0288 a0001c0005t0036g0224 a0001c0005t0100g0278 a0001c0009t0071g0196	54	291	0.1856	32	c.267 others(51): Show c.267+19066_267+19097dupTTGGAACAGCATATATATATGCTATA ATGTTA	GLRA3	ENSG00000145451.13	transcript	ENST00000274093.8	protein_coding	3/9			chr4	TogoVar
GLRA3_chr4_174631920_174834247	174747865	T T	TTAACATT others(25): Show TTAACATTATAGCATATATGTATGCTGTTCCAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG04184.hp2 HG03710.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0058 a0001c0001t0003 a0001c0001t0058	a0001c0001t0003g0130 a0001c0001t0058g0268 a0001c0001t0003g0130 a0001c0001t0058g0268	2	239	0.0084	32	c.267 others(51): Show c.267+19097_267+19098insTTGGAACAGCATACATATATGCTATA ATGTTA	GLRA3	ENSG00000145451.13	transcript	ENST00000274093.8	protein_coding	3/9			chr4	TogoVar
GLRX3_chr10_130131391_130184672	130135948	T T	TCAGGAAC others(25): Show TCAGGAACCCCGACACCCAGGGGTCCCGACAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01109.hp1 others(27): Show HG00642.hp1 HG00741.hp2 HG01109.hp1 HG01175.hp2 HG01255.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01943.hp2 HG01978.hp1 HG02055.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG03453.hp1 HG03486.hp2 NA18522.hp2 NA18960.hp2 NA18962.hp2 NA18971.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0042 a0001c0001t0001g0296 others(22): Show a0001c0001t0001g0007 a0001c0001t0001g0042 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0004t0001g0041	30	420	0.0714	32	c.-47 others(41): Show c.-473_-472insCAGGAACCCCGACACCCAGGGGTCCCGACAGC	GLRX3	ENSG00000108010.12	transcript	ENST00000331244.10	protein_coding		442		chr10	TogoVar
GLT1D1_chr12_128848478_128989968	128879376	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02976.hp1 HG01175.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0007 a0001c0001t0004 a0001c0002t0007	a0001c0001t0004g0263 a0001c0002t0007g0033 a0001c0001t0004g0263 a0001c0002t0007g0033	2	286	0.0070	32	c.217 others(49): Show c.217+3315_217+3316insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128879378	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	116	0.0086	32	c.217 others(49): Show c.217+3368_217+3399dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128908323	C C	CTTCTTTC others(25): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0107 a0001c0002t0006g0107	1	254	0.0039	32	c.376 others(49): Show c.376-4078_376-4077insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128956171	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01981.hp1 HG02683.hp2 others(9): Show HG01192.hp2 HG01981.hp1 HG02683.hp2 HG02976.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18952.hp2 NA18973.hp2 NA19054.hp2 NA19060.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0006 a0001c0002t0009	a0001c0001t0001g0172 a0001c0001t0001g0225 a0001c0001t0001g0234 others(9): Show a0001c0001t0001g0172 a0001c0001t0001g0225 a0001c0001t0001g0234 a0001c0001t0001g0274 a0001c0001t0001g0302 a0001c0001t0002g0277 a0001c0001t0003g0293 a0001c0002t0001g0034 a0001c0002t0001g0129 a0001c0002t0001g0313 a0001c0002t0006g0058 a0001c0002t0009g0116	12	175	0.0686	32	c.781 others(49): Show c.781-1373_781-1372insAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAGA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128986925	C C	CATATATA others(25): Show CATATATAGATATAGACACATATACATGTGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0020 a0001c0008t0020	a0001c0008t0020g0160 a0001c0008t0020g0160	1	151	0.0066	32	c.38 others(43): Show c.3835_*3836insATATATAGATATAGACACATATACATGTGCAT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding		1958		chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128986925	C C	CATATATA others(25): Show CATATATAGATATATACACATATACATGTGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(161): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0002c0003 a0002c0007 a0002c0014 a0003c0005 a0004c0010 a0004c0015 a0005c0009 a0008c0013 a0010c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(28): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0017 a0001c0004t0001 a0001c0006t0001 a0001c0008t0011 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0007 a0002c0003t0008 a0002c0007t0001 a0002c0014t0021 a0003c0005t0001 a0003c0005t0004 a0004c0010t0001 a0004c0015t0001 a0005c0009t0007 a0005c0009t0008 a0008c0013t0004 a0010c0011t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(161): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0126 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0290 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0004g0030 a0001c0001t0004g0039 a0001c0001t0004g0143 a0001c0001t0004g0149 a0001c0001t0004g0177 a0001c0001t0004g0236 a0001c0001t0004g0263 a0001c0001t0007g0261 a0001c0001t0008g0074 a0001c0001t0008g0211 a0001c0001t0009g0056 a0001c0001t0015g0239 a0001c0001t0019g0012 a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0075 a0001c0002t0001g0089 a0001c0002t0001g0104 a0001c0002t0001g0108 a0001c0002t0001g0117 a0001c0002t0001g0123 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0137 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0152 a0001c0002t0001g0155 a0001c0002t0001g0233 a0001c0002t0001g0271 a0001c0002t0001g0296 a0001c0002t0001g0305 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0313 a0001c0002t0001g0319 a0001c0002t0004g0064 a0001c0002t0006g0107 a0001c0002t0007g0033 a0001c0002t0007g0057 a0001c0002t0009g0116 a0001c0002t0017g0063 a0001c0004t0001g0201 a0001c0006t0001g0105 a0001c0008t0011g0021 a0001c0008t0011g0022 a0002c0003t0001g0267 a0002c0003t0001g0314 a0002c0003t0003g0163 a0002c0003t0004g0070 a0002c0003t0004g0153 a0002c0003t0004g0157 a0002c0003t0004g0286 a0002c0003t0007g0044 a0002c0003t0008g0320 a0002c0007t0001g0209 a0002c0014t0021g0085 a0003c0005t0001g0317 a0003c0005t0004g0043 a0003c0005t0004g0045 a0003c0005t0004g0145 a0003c0005t0004g0316 a0004c0010t0001g0109 a0004c0010t0001g0111 a0004c0015t0001g0166 a0005c0009t0007g0079 a0005c0009t0008g0023 a0008c0013t0004g0312 a0010c0011t0004g0139	164	314	0.5223	32	c.38 others(43): Show c.3835_*3836insATATATAGATATATACACATATACATGTGCAT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding		1958		chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128986925	C C	CATATATA others(25): Show CATATATAGATATATACACATATACATGTGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG03516.hp1 HG02723.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0154 a0001c0001t0001g0040 a0001c0001t0001g0154	2	152	0.0132	32	c.38 others(43): Show c.3835_*3836insATATATAGATATATACACATATACATGTGCGT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding		1958		chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104010160	G G	GTTCCTCA others(25): Show GTTCCTCATTGGTTCCTAAAAGGTAAAGCCACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0306 a0001c0003t0001g0306	1	414	0.0024	32	c.112 others(49): Show c.112+4821_112+4852dupTGTGGCTTTACCTTTTAGGAACCAATGA GGAA	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	4/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104045918	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	402	0.0025	32	c.-16 others(51): Show c.-164+3976_-164+3977insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10			chr12	TogoVar
GLTP_chr12_109845945_109885541	109864797	C C	CCCAAGCA others(25): Show CCCAAGCATGTGGTGGCTTTTCTAATAGTTTAT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	320	0.0031	32	c.104 others(49): Show c.104-6088_104-6057dupATAAACTATTAGAAAAGCCACCACATGC TTGG	GLTP	ENSG00000139433.11	transcript	ENST00000318348.9	protein_coding	1/4			chr12	TogoVar
GMCL2_chr5_178179505_178192371	178187475	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00738.hp1 others(11): Show HG00280.hp2 HG00639.hp1 HG00738.hp1 HG01099.hp2 HG01515.hp2 HG01934.hp2 HG02109.hp1 HG02738.hp1 HG02738.hp2 HG03492.hp2 NA18906.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0013 a0002c0002 a0010c0013	a0002c0002t0002 a0010c0013t0002 a0002c0002t0002 a0010c0013t0002	a0002c0002t0002g0000 a0010c0013t0002g0000 a0002c0002t0002g0000 a0010c0013t0002g0000	14	39	0.3590	32	c.-17 others(41): Show c.-177_-176insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GMCL2	ENSG00000244234.3	transcript	ENST00000463439.3	protein_coding		105		chr5	TogoVar
GMDS_chr6_1618806_2250605	1652636	T T	TATATTAT others(25): Show TATATTATATATAATATATATCATTTATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	157	0.0064	32	c.988 others(51): Show c.988-28097_988-28096insTATATATAAATGATATATATTATATA TAATAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2013925	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	2	0.5000	32	c.346 others(51): Show c.346-52991_346-52960dupATATATATATATATATATATATATAT ATATAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2052116	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18979.hp2 HG02258.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0038 a0001c0002t0001g0143 a0001c0001t0002g0038 a0001c0002t0001g0143	2	123	0.0163	32	c.345 others(51): Show c.345+63654_345+63655insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2059707	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19240.hp1 NA19010.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0083 a0001c0002t0001g0026 a0001c0002t0001g0083	2	7	0.2857	32	c.345 others(51): Show c.345+56063_345+56064insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMEB2_chr20_63582605_63632101	63607597	C C	CCCGTGAC others(25): Show CCCGTGACCCCACATCCATTTCTAGAAACATGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02897.hp2 HG03195.hp2 others(1): Show HG01891.hp2 HG02897.hp2 HG03195.hp2 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0011 a0001c0004t0004g0084 a0001c0004t0004g0087 a0001c0004t0004g0011 a0001c0004t0004g0084 a0001c0004t0004g0087	4	323	0.0124	32	c.132 others(49): Show c.132-2758_132-2757insACATGTTTCTAGAAATGGATGTGGGGTC ACGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63607762	A A	AAACATGC others(25): Show AAACATGCCCCTCTGACCCACCTCCATTTCTAG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0174 a0001c0003t0002g0174	1	328	0.0030	32	c.132 others(49): Show c.132-2923_132-2922insCTAGAAATGGAGGTGGGTCAGAGGGGCA TGTT	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608565	C C	CTCCATTT others(25): Show CTCCATTTCTAGAAACATGCCCCTGACCCCACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(74): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp2 HG01515.hp2 HG01516.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG03017.hp2 HG03492.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18967.hp1 NA18970.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19054.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19075.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0002 a0001c0003t0022 a0001c0003t0023 others(3): Show a0001c0003t0002 a0001c0003t0022 a0001c0003t0023 a0001c0003t0024 a0001c0003t0026 a0001c0015t0002	a0001c0003t0002g0001 a0001c0003t0002g0023 a0001c0003t0002g0024 others(68): Show a0001c0003t0002g0001 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0111 a0001c0003t0002g0112 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0003t0002g0125 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0129 a0001c0003t0002g0130 a0001c0003t0002g0132 a0001c0003t0002g0133 a0001c0003t0002g0134 a0001c0003t0002g0135 a0001c0003t0002g0136 a0001c0003t0002g0137 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0141 a0001c0003t0002g0142 a0001c0003t0002g0143 a0001c0003t0002g0144 a0001c0003t0002g0145 a0001c0003t0002g0146 a0001c0003t0002g0147 a0001c0003t0002g0148 a0001c0003t0002g0150 a0001c0003t0002g0151 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0160 a0001c0003t0002g0161 a0001c0003t0002g0162 a0001c0003t0002g0163 a0001c0003t0002g0165 a0001c0003t0002g0166 a0001c0003t0002g0167 a0001c0003t0002g0168 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0002g0171 a0001c0003t0002g0173 a0001c0003t0002g0174 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0186 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0190 a0001c0003t0002g0260 a0001c0003t0002g0262 a0001c0003t0002g0264 a0001c0003t0002g0270 a0001c0003t0022g0263 a0001c0003t0023g0159 a0001c0003t0024g0164 a0001c0003t0026g0291 a0001c0015t0002g0172	77	300	0.2567	32	c.132 others(49): Show c.132-3726_132-3725insTGTGGGGTCAGGGGCATGTTTCTAGAAA TGGA	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609069	C C	CCCACCTC others(25): Show CCCACCTCCATTTCCAGAAACATGCCCCTCTGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0159 a0001c0003t0023g0159	1	321	0.0031	32	c.132 others(49): Show c.132-4230_132-4229insTCAGAGGGGCATGTTTCTGGAAATGGAG GTGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609069	C C	CCCACCTC others(25): Show CCCACCTCCATTTCTAGAAACATGCCCCTCTGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03239.hp2 HG03710.hp2 HG02280.hp1 HG03239.hp2 HG03710.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0040 a0001c0004t0004g0041 a0001c0004t0004g0100 a0001c0004t0004g0040 a0001c0004t0004g0041 a0001c0004t0004g0100	3	323	0.0093	32	c.132 others(49): Show c.132-4230_132-4229insTCAGAGGGGCATGTTTCTAGAAATGGAG GTGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609139	C C	CTCACCTC others(25): Show CTCACCTCCATTTCTAGAAACATGCCCCTGTGA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	327	0.0031	32	c.132 others(49): Show c.132-4300_132-4299insTCACAGGGGCATGTTTCTAGAAATGGAG GTGA	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609211	A A	ACCTCCAT others(25): Show ACCTCCATTTCTAGAAACATGCCCCTCTGACCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0036 a0001c0007t0007g0036	1	326	0.0031	32	c.132 others(49): Show c.132-4372_132-4371insGGGTCAGAGGGGCATGTTTCTAGAAATG GAGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609721	A A	ACCTCCAT others(25): Show ACCTCCATTTCTAGAAACATGCCCCTCTGACCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0093 a0001c0004t0004g0093	1	328	0.0030	32	c.132 others(49): Show c.132-4882_132-4881insGGGTCAGAGGGGCATGTTTCTAGAAATG GAGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMFB_chr14_54469485_54493980	54493850	A A	ACATCTAG others(25): Show ACATCTAGTAAAGACAGTATCATGACTTTAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	32	c.-49 others(43): Show c.-4924_-4923insCTTTAAAGTCATGATACTGTCTTTACTAGATG	GMFB	ENSG00000197045.14	transcript	ENST00000358056.8	protein_coding		4871		chr14	TogoVar
GNA11_chr19_3089362_3128999	3115946	G G	GGAGGGGT others(25): Show GGAGGGGTCATAGGGGCCGAGGCTGTCAGGGAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01891.hp2 others(19): Show HG01109.hp2 HG01243.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0009 a0001c0001t0024 a0001c0001t0026 others(5): Show a0001c0001t0009 a0001c0001t0024 a0001c0001t0026 a0001c0001t0055 a0001c0001t0067 a0001c0001t0071 a0001c0001t0082 a0002c0003t0009	a0001c0001t0009g0008 a0001c0001t0009g0057 a0001c0001t0009g0067 others(15): Show a0001c0001t0009g0008 a0001c0001t0009g0057 a0001c0001t0009g0067 a0001c0001t0009g0252 a0001c0001t0009g0253 a0001c0001t0009g0256 a0001c0001t0009g0258 a0001c0001t0009g0259 a0001c0001t0024g0066 a0001c0001t0024g0255 a0001c0001t0026g0221 a0001c0001t0026g0222 a0001c0001t0055g0257 a0001c0001t0067g0197 a0001c0001t0071g0219 a0001c0001t0082g0067 a0002c0003t0009g0008 a0002c0003t0009g0254	22	424	0.0519	32	c.605 others(47): Show c.605+882_605+883insATAGGGGCCGAGGCTGTCAGGGAAGAGGGG TC	GNA11	ENSG00000088256.9	transcript	ENST00000078429.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA12_chr7_2723105_2849308	2763191	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp2 HG02451.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0034 a0001c0001t0014 a0001c0001t0034	a0001c0001t0014g0162 a0001c0001t0034g0297 a0001c0001t0014g0162 a0001c0001t0034g0297	2	33	0.0606	32	c.526 others(51): Show c.526-29722_526-29691dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNA12_chr7_2723105_2849308	2780046	G G	GTATATGT others(25): Show GTATATGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0304 a0001c0001t0004g0304	1	283	0.0035	32	c.525 others(51): Show c.525+14881_525+14882insTATATATATATATATATATATATACA CATATA	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNA15_chr19_3131033_3168749	3140044	A A	AAAAAATC others(25): Show AAAAAATCTATCTATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02083.hp2 HG02129.hp2 others(10): Show HG02027.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02280.hp1 HG02965.hp1 HG03540.hp1 NA18957.hp1 NA18969.hp1 NA19063.hp1 NA19088.hp1 NA19091.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0009t0001	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0290 others(9): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0290 a0001c0001t0001g0299 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0344 a0001c0001t0001g0402 a0001c0001t0006g0289 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0009t0001g0298	13	45	0.2889	32	c.145 others(49): Show c.145+3450_145+3451insAAAATCTATCTATCTATCTATCTATCTA TCTA	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNAL_chr18_11747085_11890685	11769890	A A	AAATACGT others(25): Show AAATACGTAAATGATGAACATTTTTTTAAAAAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0119 a0001c0001t0004g0119	1	282	0.0035	32	c.393 others(51): Show c.393+15947_393+15978dupATACGTAAATGATGAACATTTTTTTA AAAATA	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAQ_chr9_77711097_78036811	77863216	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19043.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0072 a0001c0001t0001 a0001c0001t0072	a0001c0001t0001g0108 a0001c0001t0072g0035 a0001c0001t0001g0108 a0001c0001t0072g0035	2	250	0.0080	32	c.322 others(51): Show c.322-47447_322-47446insCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar

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