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
FXN_chr9_69030752_69084076	69037284	A A	AAAAGAAG others(21): Show AAAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0326 a0001c0001t0006g0326	1	13	0.0769	28	c.165 others(45): Show c.165+1339_165+1340insAGAAGAAGAAGAAGAAGAAGAAGAAGAA	FXN	ENSG00000165060.15	transcript	ENST00000484259.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
FXR1_chr3_180907670_180987753	180964673	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03471.hp2 HG02922.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0071 a0001c0001t0012g0063 a0001c0001t0009g0071 a0001c0001t0012g0063	2	92	0.0217	28	c.119 others(47): Show c.1198+1584_1198+1611dupTATATATATATATATATATATATATA TA	FXR1	ENSG00000114416.19	transcript	ENST00000357559.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
FXR1_chr3_180907670_180987753	180964673	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02965.hp2 HG02970.hp2 others(1): Show HG01261.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0062 a0001c0001t0009g0066 a0001c0001t0009g0067 others(1): Show a0001c0001t0009g0062 a0001c0001t0009g0066 a0001c0001t0009g0067 a0001c0001t0009g0068	4	94	0.0426	28	c.119 others(47): Show c.1198+1584_1198+1585insTTATATATATATATATATATATATAT AT	FXR1	ENSG00000114416.19	transcript	ENST00000357559.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
FXR2_chr17_7586230_7619897	7610042	A A	ATATATAC others(21): Show ATATATACATGTATATGTATACATGTATG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	424	0.0024	28	c.82- others(43): Show c.82-3894_82-3893insCATACATGTATACATATACATGTATATA	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16			chr17	TogoVar
FXR2_chr17_7586230_7619897	7610049	C C	CATGTATA others(21): Show CATGTATACGTATACATGTATGTATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	421	0.0024	28	c.82- others(43): Show c.82-3901_82-3900insATATATACATACATGTATACGTATACAT	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16			chr17	TogoVar
FXR2_chr17_7586230_7619897	7610049	C C	CATGTATA others(21): Show CATGTATATGTATACATGTATGTATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04184.hp2 HG04115.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	2	422	0.0047	28	c.82- others(43): Show c.82-3901_82-3900insATATATACATACATGTATACATATACAT	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16			chr17	TogoVar
FXYD2_chr11_117815057_117829744	117826778	G G	GTCTATCT others(21): Show GTCTATCTGTCTGTCTATCTATCTATCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 NA18945.hp2 NA18975.hp2 others(1): Show HG00673.hp1 NA18945.hp2 NA18975.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	4	283	0.0141	28	c.-21 others(39): Show c.-2101_-2100insTAGATAGATAGATAGACAGACAGATAGA	FXYD2	ENSG00000137731.14	transcript	ENST00000292079.7	protein_coding		2035		chr11	TogoVar
FXYD4_chr10_43366636_43381335	43367417	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01975.hp2 HG02630.hp1 others(8): Show HG00738.hp1 HG01975.hp2 HG02630.hp1 HG02647.hp1 HG03130.hp2 HG03239.hp1 HG04115.hp1 HG06807.hp2 NA18951.hp2 NA19083.hp1 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0011 others(4): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0029 a0003c0003t0002g0002	11	304	0.0362	28	c.-45 others(39): Show c.-4559_-4558insTATATATATATATATATATATATATATA	FXYD4	ENSG00000150201.15	transcript	ENST00000476166.6	protein_coding		4218		chr10	TogoVar
FXYD5_chr19_35149735_35174881	35161221	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG00741.hp2 others(38): Show HG00438.hp1 HG00642.hp1 HG00741.hp2 HG01106.hp2 HG01192.hp2 HG01952.hp1 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG03688.hp2 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18949.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp2 NA18964.hp1 NA18967.hp1 NA18980.hp1 NA18987.hp1 NA18992.hp1 NA18998.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19057.hp2 NA19067.hp2 NA19068.hp1 NA19080.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0002c0003 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0006t0001 a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0108 a0001c0001t0001g0137 a0001c0001t0001g0175 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0234 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0016 a0001c0001t0003g0072 a0001c0001t0003g0075 a0001c0001t0003g0127 a0001c0001t0003g0288 a0001c0006t0001g0112 a0002c0002t0001g0075 a0002c0002t0001g0094 a0002c0002t0002g0085 a0002c0002t0002g0180 a0002c0003t0001g0193 a0005c0007t0001g0194	41	105	0.3905	28	c.292 others(43): Show c.292+447_292+448insCACACACACACACACACACACACACACA	FXYD5	ENSG00000089327.15	transcript	ENST00000392219.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
FXYD5_chr19_35149735_35174881	35161221	A A	AACACACA others(21): Show AACACACACACACACACACACACACACTC	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	65	0.0154	28	c.292 others(43): Show c.292+446_292+447insTCACACACACACACACACACACACACAC	FXYD5	ENSG00000089327.15	transcript	ENST00000392219.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
FYB1_chr5_39100252_39224563	39185595	T T	TACATATA others(21): Show TACATATATATACACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01169.hp2 others(4): Show HG01109.hp2 HG01167.hp1 HG01169.hp2 HG03041.hp1 HG03098.hp2 HG03486.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 others(2): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0021 a0003c0005t0007	a0001c0001t0003g0087 a0001c0001t0009g0103 a0001c0001t0009g0104 others(4): Show a0001c0001t0003g0087 a0001c0001t0009g0103 a0001c0001t0009g0104 a0001c0001t0009g0167 a0001c0001t0010g0323 a0001c0001t0021g0110 a0003c0005t0007g0076	7	324	0.0216	28	c.113 others(49): Show c.1135+16230_1135+16231insGTGTATATATATATGTGTATATAT ATGT	FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	2/18			chr5	TogoVar
FYB2_chr1_56713789_56824404	56757687	C C	CTTCCTTC others(21): Show CTTCCTTCTTTTTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	218	0.0046	28	c.109 others(47): Show c.1098+1028_1098+1029insAGAAAGAAAGAAAGAAAAAAAGAAGG AA	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19			chr1	TogoVar
FYB2_chr1_56713789_56824404	56757739	T T	TTATAGTT others(21): Show TTATAGTTTGCACCCTTTCTTTCTTTTCA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	378	0.0026	28	c.109 others(45): Show c.1098+976_1098+977insTGAAAAGAAAGAAAGGGTGCAAACTATA	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19			chr1	TogoVar
FYCO1_chr3_45912903_46000824	45998119	A A	AAGATAGA others(21): Show AAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0015 a0015	a0015c0041 a0015c0041	a0015c0041t0018 a0015c0041t0018	a0015c0041t0018g0158 a0015c0041t0018g0158	1	256	0.0039	28	c.-25 others(39): Show c.-2511_-2510insATCTATCTATCTATCTATCTATCTATCT	FYCO1	ENSG00000163820.16	transcript	ENST00000296137.7	protein_coding		2296		chr3	TogoVar
FYN_chr6_111655332_111878452	111657969	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	95	0.0105	28	c.37 others(39): Show c.3769_*3770insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	FYN	ENSG00000010810.18	transcript	ENST00000354650.7	protein_coding		2362		chr6	TogoVar
FYN_chr6_111655332_111878452	111773616	G G	GAGAGGGG others(21): Show GAGAGGGGGAGGGAGAGAGGGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG00673.hp1 others(43): Show HG00558.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG01106.hp2 HG01256.hp2 HG01258.hp2 HG01891.hp1 HG01952.hp2 HG02055.hp2 HG02083.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02698.hp1 HG02717.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp2 HG03490.hp2 HG03516.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp1 NA18968.hp1 NA18973.hp2 NA18985.hp2 NA18995.hp2 NA19005.hp2 NA19068.hp1 NA19074.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0021 a0001c0001t0025 a0001c0004t0001	a0001c0001t0001g0096 a0001c0001t0001g0117 a0001c0001t0001g0122 others(43): Show a0001c0001t0001g0096 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0002g0017 a0001c0001t0002g0061 a0001c0001t0002g0068 a0001c0001t0004g0098 a0001c0001t0004g0121 a0001c0001t0004g0125 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0005g0213 a0001c0001t0008g0097 a0001c0001t0008g0100 a0001c0001t0008g0102 a0001c0001t0008g0108 a0001c0001t0008g0116 a0001c0001t0008g0120 a0001c0001t0011g0021 a0001c0001t0021g0119 a0001c0001t0025g0233 a0001c0004t0001g0105	46	113	0.4071	28	c.-12 others(45): Show c.-12+6949_-12+6950insTTCCCTCCCCCTCTCTCCCTCCCCCTCT	FYN	ENSG00000010810.18	transcript	ENST00000354650.7	protein_coding	3/13			chr6	TogoVar
FYN_chr6_111655332_111878452	111875821	C C	CCTCTCTC others(21): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG03130.hp1 HG02809.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0157 a0001c0001t0001g0165	2	92	0.0217	28	c.-29 others(39): Show c.-2977_-2976insAGAGAGAGAGAGAGAGAGAGAGAGAGAG	FYN	ENSG00000010810.18	transcript	ENST00000354650.7	protein_coding		2370		chr6	TogoVar
FYTTD1_chr3_197744883_197792596	197766430	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18966.hp1 HG03942.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0184 a0001c0001t0004g0119 a0001c0001t0001g0184 a0001c0001t0004g0119	2	40	0.0500	28	c.236 others(45): Show c.236-2006_236-1979dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
FYTTD1_chr3_197744883_197792596	197792577	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01081.hp2 HG01123.hp2 others(12): Show HG00558.hp1 HG01081.hp2 HG01123.hp2 HG01934.hp1 HG02074.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02735.hp1 HG02738.hp2 HG03017.hp2 NA18522.hp1 NA18971.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0040 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0040 a0002c0002t0002 a0002c0002t0014	a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0126 others(12): Show a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0126 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0006g0167 a0001c0001t0040g0007 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0053 a0002c0002t0014g0009	15	83	0.1807	28	c.10 others(41): Show c.10668_*10669insTATATATATATATATATATATATATATA	FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding		4982		chr3	TogoVar
FZD6_chr8_103293898_103337866	103298698	C C	CGGGGCCG others(21): Show CGGGGCCGGGTCCTGGCGGGCCGCGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0248 a0002c0002t0001g0248	1	364	0.0027	28	c.-45 others(37): Show c.-450_-449insGGGGCCGGGTCCTGGCGGGCCGCGGAGT	FZD6	ENSG00000164930.12	transcript	ENST00000358755.5	protein_coding		199		chr8	TogoVar
FZD6_chr8_103293898_103337866	103329013	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01261.hp1 HG02698.hp1 others(6): Show HG00099.hp2 HG01261.hp1 HG02698.hp1 NA18942.hp2 NA18992.hp2 NA19003.hp1 NA19009.hp2 NA19065.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0097 a0001c0001t0002g0027 a0001c0001t0002g0072 others(4): Show a0001c0001t0001g0097 a0001c0001t0002g0027 a0001c0001t0002g0072 a0001c0001t0002g0117 a0001c0001t0002g0125 a0001c0001t0006g0031 a0001c0001t0006g0075	9	13	0.6923	28	c.154 others(45): Show c.1541+616_1541+617insATATATATATATATATATATATATATAT	FZD6	ENSG00000164930.12	transcript	ENST00000358755.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
FZD7_chr2_202028855_202043441	202040052	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0000 a0003c0007t0004g0000	1	27	0.0370	28	c.36 others(39): Show c.3680_*3681insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	FZD7	ENSG00000155760.3	transcript	ENST00000286201.3	protein_coding		1612		chr2	TogoVar
FZR1_chr19_3501311_3543334	3529697	T T	TGAGGGAG others(21): Show TGAGGGAGCGGATGGTTGAGCGGATGGGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0022 a0001c0001t0005 a0001c0001t0022	a0001c0001t0005g0011 a0001c0001t0022g0011 a0001c0001t0005g0011 a0001c0001t0022g0011	2	268	0.0075	28	c.655 others(45): Show c.655-1092_655-1091insGGAGCGGATGGTTGAGCGGATGGGAGAG	FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
G3BP2_chr4_75637786_75678411	75643295	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02723.hp2 NA18962.hp2 HG01884.hp1 HG02723.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0043 a0001c0001t0023 a0001c0001t0043	a0001c0001t0023g0052 a0001c0001t0023g0076 a0001c0001t0043g0094 a0001c0001t0023g0052 a0001c0001t0023g0076 a0001c0001t0043g0094	3	135	0.0222	28	c.21 others(39): Show c.2134_*2135insTATATATATATATATATATATATATATA	G3BP2	ENSG00000138757.15	transcript	ENST00000359707.9	protein_coding	12/12	2134		chr4	TogoVar
G3BP2_chr4_75637786_75678411	75674718	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0213 a0001c0001t0004g0213	1	229	0.0044	28	c.-15 others(39): Show c.-1536_-1535insAAAAAAAATATATATATATATATATATA	G3BP2	ENSG00000138757.15	transcript	ENST00000359707.9	protein_coding		1308		chr4	TogoVar
GAA_chr17_80096581_80124881	80120347	A A	ACCTCTCC others(21): Show ACCTCTCCCCTCCCCTCCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0092 a0002c0001t0001g0092	1	399	0.0025	28	c.10 others(39): Show c.1016_*1017insCCTCTCCCCTCCCCTCCTCCCCTCCCCT	GAA	ENSG00000171298.14	transcript	ENST00000302262.8	protein_coding		467		chr17	TogoVar
GAB1_chr4_143331876_143479565	143373864	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA19058.hp1 HG01175.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0087 a0001c0001t0002g0021 a0001c0001t0002g0087	2	139	0.0144	28	c.72+ others(45): Show c.72+36607_72+36608insTATATATATATATATATATATATATATA	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB2_chr11_78210293_78422820	78267857	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG03490.hp1 HG02300.hp1 HG03490.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0033 a0002c0007t0029 a0001c0001t0033 a0002c0007t0029	a0001c0001t0033g0080 a0002c0007t0029g0033 a0001c0001t0033g0080 a0002c0007t0029g0033	2	153	0.0131	28	c.376 others(47): Show c.376+12743_376+12744insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	2/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78307604	T T	TAGAGAGA others(21): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18965.hp2 HG04228.hp1 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0031 a0001c0002t0005g0090 a0001c0002t0002g0031 a0001c0002t0005g0090	2	149	0.0134	28	c.76- others(45): Show c.76-26731_76-26704dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78309971	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA20300.hp1 HG03471.hp2 NA20300.hp1	a0003 a0009 a0003 a0009	a0003c0006 a0009c0015 a0003c0006 a0009c0015	a0003c0006t0007 a0009c0015t0007 a0003c0006t0007 a0009c0015t0007	a0003c0006t0007g0178 a0009c0015t0007g0148 a0003c0006t0007g0178 a0009c0015t0007g0148	2	253	0.0079	28	c.76- others(45): Show c.76-29071_76-29070insGCGCGCGCACACACACACACACACACAC	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78318369	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0193 a0001c0001t0049g0193	1	48	0.0208	28	c.76- others(45): Show c.76-37469_76-37468insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78398021	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03471.hp1 NA19030.hp1 HG02922.hp2 HG03471.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0008 a0003c0006 a0001c0002 a0001c0008 a0003c0006	a0001c0002t0055 a0001c0008t0053 a0003c0006t0007 a0001c0002t0055 a0001c0008t0053 a0003c0006t0007	a0001c0002t0055g0117 a0001c0008t0053g0123 a0003c0006t0007g0122 a0001c0002t0055g0117 a0001c0008t0053g0123 a0003c0006t0007g0122	3	244	0.0123	28	c.75+ others(45): Show c.75+19624_75+19625insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GABBR2_chr9_98283109_98713935	98393029	C C	CCCAACCA others(21): Show CCCAACCATCCATCCATCCACCCAACCAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0076 a0001c0001t0033g0076	1	51	0.0196	28	c.137 others(47): Show c.1378+1145_1378+1146insATGGTTGGGTGGATGGATGGATGGTT GG	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	9/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98393157	C C	CCCATCCA others(21): Show CCCATCCATCCATCCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG03098.hp1 others(4): Show HG01243.hp2 HG02572.hp2 HG03098.hp1 HG03209.hp2 NA18963.hp1 NA18995.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0002c0004 a0002c0017	a0001c0001t0006 a0001c0003t0006 a0001c0007t0011 others(2): Show a0001c0001t0006 a0001c0003t0006 a0001c0007t0011 a0002c0004t0007 a0002c0017t0002	a0001c0001t0006g0143 a0001c0003t0006g0141 a0001c0007t0011g0021 others(4): Show a0001c0001t0006g0143 a0001c0003t0006g0141 a0001c0007t0011g0021 a0001c0007t0011g0052 a0002c0004t0007g0101 a0002c0017t0002g0033 a0002c0017t0002g0038	7	8	0.8750	28	c.137 others(46): Show c.1378+990_1378+1017dupATGGATGGATGGATGGATGGATGGATG G	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	9/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98393342	A A	ACCATCCA others(21): Show ACCATCCATCCATCCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp2 HG01433.hp2 others(7): Show HG00735.hp1 HG01070.hp2 HG01433.hp2 HG01516.hp1 HG02683.hp2 HG02965.hp1 HG03471.hp2 NA18522.hp2 NA18969.hp2 NA18994.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 others(3): Show a0001c0001 a0001c0002 a0002c0004 a0002c0006 a0002c0008 a0002c0009	a0001c0001t0001 a0001c0001t0015 a0001c0001t0024 others(7): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0024 a0001c0001t0034 a0001c0002t0001 a0001c0002t0003 a0002c0004t0035 a0002c0006t0008 a0002c0008t0008 a0002c0009t0005	a0001c0001t0001g0119 a0001c0001t0015g0037 a0001c0001t0024g0008 others(7): Show a0001c0001t0001g0119 a0001c0001t0015g0037 a0001c0001t0024g0008 a0001c0001t0034g0071 a0001c0002t0001g0117 a0001c0002t0003g0098 a0002c0004t0035g0075 a0002c0006t0008g0019 a0002c0008t0008g0059 a0002c0009t0005g0114	10	130	0.0769	28	c.137 others(45): Show c.1378+832_1378+833insATGGATGGATGGATGGATGGATGGATGG	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	9/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98447063	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18959.hp1 NA18963.hp2 others(3): Show HG01975.hp2 NA18959.hp1 NA18963.hp2 NA18969.hp1 NA18969.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0002c0010 others(1): Show a0001c0002 a0002c0006 a0002c0010 a0002c0014	a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0002c0006t0005 a0002c0010t0008 a0002c0014t0002	a0001c0002t0001g0117 a0001c0002t0003g0094 a0001c0002t0006g0128 others(3): Show a0001c0002t0001g0117 a0001c0002t0003g0094 a0001c0002t0006g0128 a0002c0006t0005g0145 a0002c0010t0008g0010 a0002c0014t0002g0051	6	82	0.0732	28	c.123 others(47): Show c.1236+6917_1236+6918insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0005 a0002c0023t0005	a0002c0023t0005g0133 a0002c0023t0005g0133	1	7	0.1429	28	c.321 others(47): Show c.321+60300_321+60301insCTATCTATCTATACACACACACACAC AC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABRA2_chr4_46238548_46395128	46264986	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03225.hp1 HG03239.hp2 others(1): Show HG02622.hp2 HG03225.hp1 HG03239.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013	a0001c0001t0003g0139 a0001c0001t0006g0086 a0001c0001t0009g0108 others(1): Show a0001c0001t0003g0139 a0001c0001t0006g0086 a0001c0001t0009g0108 a0001c0001t0013g0081	4	99	0.0404	28	c.857 others(45): Show c.857-2859_857-2858insATATATATATATATATATATATATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46297476	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	7	0.1429	28	c.856 others(45): Show c.856+5956_856+5983dupATATATATATATATATATATATATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46389802	G G	GGAGAGAG others(21): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00733.hp2 NA19085.hp2 HG00733.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0045 a0001c0002t0008 a0001c0002t0045	a0001c0002t0008g0209 a0001c0002t0045g0015 a0001c0002t0008g0209 a0001c0002t0045g0015	2	25	0.0800	28	c.-10 others(36): Show c.-106_-79dupTCTCTCTCTCTCTCTCTCTCTCTCTCTC	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	1/10	1097		chr4	TogoVar
GABRA4_chr4_46913900_46998581	46950716	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01361.hp1 NA18983.hp1 HG01255.hp2 HG01361.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0068 a0002c0002t0001g0103 a0002c0002t0001g0061 a0002c0002t0001g0068 a0002c0002t0001g0103	3	193	0.0155	28	c.113 others(49): Show c.1134+14226_1134+14253dupATTTATTTATTTATTTATTTATTT ATTT	GABRA4	ENSG00000109158.11	transcript	ENST00000264318.4	protein_coding	8/8			chr4	TogoVar
GABRB1_chr4_47026567_47431447	47125559	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0134 a0001c0003t0005g0134	1	6	0.1667	28	c.241 others(47): Show c.241-35676_241-35675insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47246371	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0098 a0001c0003t0008g0098	1	154	0.0065	28	c.462 others(47): Show c.462-73755_462-73754insCACACACACACACACACACACACACA CA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB2_chr5_161283436_161551725	161416696	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA18954.hp1 HG01517.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0052 a0001c0001t0004 a0001c0001t0052	a0001c0001t0004g0190 a0001c0001t0052g0066 a0001c0001t0004g0190 a0001c0001t0052g0066	2	18	0.1111	28	c.459 others(45): Show c.459-5667_459-5640dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	4/9			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26554021	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03486.hp1 HG03139.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0029 a0001c0001t0008 a0001c0001t0029	a0001c0001t0008g0093 a0001c0001t0029g0139 a0001c0001t0008g0093 a0001c0001t0029g0139	2	128	0.0156	28	c.108 others(47): Show c.1081-5888_1081-5887insTATATATATATATATATATATATATA TA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554039	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01257.hp1 HG01433.hp1 others(4): Show HG00438.hp2 HG01257.hp1 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG03490.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0023	a0001c0001t0002g0060 a0001c0001t0002g0073 a0001c0001t0002g0101 others(4): Show a0001c0001t0002g0060 a0001c0001t0002g0073 a0001c0001t0002g0101 a0001c0001t0003g0110 a0001c0001t0003g0144 a0001c0001t0016g0192 a0001c0001t0023g0111	7	141	0.0496	28	c.108 others(47): Show c.1081-5906_1081-5905insAATATATATATATATATATATATATA TA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554043	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	195	0.0051	28	c.108 others(47): Show c.1081-5910_1081-5909insAATATATATATATATATATATATATA TA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554176	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	113	0.0088	28	c.108 others(47): Show c.1081-6043_1081-6042insTATATATATATATATATATATATATA TA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554207	A A	ATATATAT others(21): Show ATATATATATATATATATATTTATTTATT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0012 a0001c0004t0002g0012	1	148	0.0068	28	c.108 others(47): Show c.1081-6074_1081-6073insAATAAATAAATATATATATATATATA TA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26606768	C C	CGATAGAT others(21): Show CGATAGATAGATATATCGATAGATAGATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0023 a0001c0001t0031g0023	1	177	0.0056	28	c.461 others(47): Show c.461+14545_461+14546insTATCTATCTATCGATATATCTATCTA TC	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	4/8			chr15	TogoVar

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