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
FRMD4A_chr10_13638706_14335924	13804523	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03471.hp2 HG01346.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0002 a0001c0001t0001 a0002c0004t0002	a0001c0001t0001g0065 a0002c0004t0002g0084 a0001c0001t0001g0065 a0002c0004t0002g0084	2	76	0.0263	44	c.206 others(61): Show c.206+6290_206+6291insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	4/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14039368	G G	GTCCGTCC others(37): Show GTCCGTCCGTCCGTCCGTCCGTCCGTCCATCCATCCATCCATCCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	87	0.0115	44	c.46- others(63): Show c.46-180457_46-180456insTGGATGGATGGATGGATGGACGGACG GACGGACGGACGGACGGA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14127932	T T	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0076 a0002c0004t0010g0076	1	134	0.0075	44	c.45+ others(63): Show c.45+202125_45+202126insGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMPD4_chrX_12133473_12729523	12193771	A A	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02257.hp1 HG01099.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0021 a0001c0002t0001g0147 a0001c0001t0002g0021 a0001c0002t0001g0147	2	83	0.0241	44	c.41+ others(61): Show c.41+54762_41+54763insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGGAAGGAAG	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12193771	A A	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	82	0.0122	44	c.41+ others(61): Show c.41+54762_41+54763insAAAGAAAGAAAGAAAGAAAGAAAGAAAG GAAGGAAGGAAGGAAG	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRYL_chr4_48492357_48785279	48645124	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18995.hp1 HG02015.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0154 a0001c0001t0002g0255 a0001c0001t0001g0154 a0001c0001t0002g0255	2	11	0.1818	44	c.-80 others(63): Show c.-80-10635_-80-10634insTATATATATATATATATATATATATA TATATATATATATATATA	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
FSHR_chr2_48957157_49159515	49021886	T T	TATATATA others(37): Show TATATATATATATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	189	0.0053	44	c.225 others(61): Show c.225-1727_225-1726insCTCTCTCTCTCTCTCTCTATATATATAT ATATATATATATATAT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSTL4_chr5_133191455_133617541	133349686	C C	CGACTGTA others(37): Show CGACTGTAAAGGACCCATAGGATGGACTTTGTCATGCTGCCATGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	173	0.0058	44	c.410 others(63): Show c.410-33035_410-33034insACATGGCAGCATGACAAAGTCCATCC TATGGGTCCTTTACAGTC	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	4/15			chr5	TogoVar
FSTL4_chr5_133191455_133617541	133375291	C C	CATATATA others(37): Show CATATATATATGTATGTGTGTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0092 a0001c0003t0007g0093 a0001c0003t0007g0092 a0001c0003t0007g0093	2	67	0.0299	44	c.409 others(63): Show c.409+25446_409+25447insATATATATATATATATATATATATAC ACACATACATATATATAT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	4/15			chr5	TogoVar
FSTL5_chr4_161378897_162169000	161437565	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0076 a0003c0005t0005g0076	1	28	0.0357	44	c.184 others(65): Show c.1841+17438_1841+17439insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	15/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161779821	A A	ATATATGT others(37): Show ATATATGTATATATATATATATGTATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	101	0.0099	44	c.410 others(61): Show c.410-3748_410-3747insCATATATATATATATATATATACATATA TATATATATACATATA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	4/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161783675	T T	TTCCCTTC others(37): Show TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01175.hp2 HG01123.hp1 HG01175.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0004 a0003c0005t0005 a0001c0001t0004 a0003c0005t0005	a0001c0001t0004g0122 a0003c0005t0005g0077 a0001c0001t0004g0122 a0003c0005t0005g0077	2	103	0.0194	44	c.410 others(61): Show c.410-7602_410-7601insGAGAGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGGA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	4/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161968934	T T	TACACACA others(37): Show TACACACACACACACACACACACACACACACTCACATAAGCACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19079.hp2 HG00438.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0013 a0001c0012 a0002c0013	a0001c0012t0001 a0002c0013t0003 a0001c0012t0001 a0002c0013t0003	a0001c0012t0001g0070 a0002c0013t0003g0111 a0001c0012t0001g0070 a0002c0013t0003g0111	2	91	0.0220	44	c.161 others(63): Show c.161-48283_161-48282insGTGTGCTTATGTGAGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	3/15			chr4	TogoVar
FTMT_chr5_121846882_121857833	121852924	G G	GACCCTAG others(37): Show GACCCTAGCTACTAAACAGCTCTAACTAGAAAAGAGCTATAGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0000 a0004c0005t0001g0000	1	410	0.0024	44	c.23 others(53): Show c.232_*233insACCCTAGCTACTAAACAGCTCTAACTAGAAAAGAGC TATAGGAT	FTMT	ENSG00000181867.3	transcript	ENST00000321339.3	protein_coding		92		chr5	TogoVar
FUT4_chr11_94538921_94554895	94553859	G G	GTATATAT others(37): Show GTATATATATATATGTTTATATTATATATATAATATATATGTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	419	0.0024	44	c.81 others(55): Show c.8133_*8134insTATATATATATATGTTTATATTATATATATAATA TATATGTTTA	FUT4	ENSG00000196371.4	transcript	ENST00000358752.4	protein_coding		3965		chr11	TogoVar
FUT8_chr14_65407730_65749121	65474441	G G	GAAAAAAA others(37): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0245 a0001c0001t0003g0245	1	79	0.0127	44	c.-22 others(65): Show c.-228+18739_-228+18740insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65677151	T T	TGTGCGCG others(37): Show TGTGCGCGCGCGCGCGCACGCGCGCGCACGTATGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0360 a0001c0001t0025g0360	1	273	0.0037	44	c.835 others(61): Show c.835+7672_835+7673insTGCGCGCGCGCGCGCACGCGCGCGCACG TATGTGTGTGCGCGCG	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FXN_chr9_69030752_69084076	69037284	A A	AAAAAGAA others(37): Show AAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0320 a0001c0001t0012g0320	1	13	0.0769	44	c.165 others(61): Show c.165+1339_165+1340insAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAA	FXN	ENSG00000165060.15	transcript	ENST00000484259.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
FXR2_chr17_7586230_7619897	7609931	T T	TATACATA others(37): Show TATACATATACATGTATATGTATACATATACATGTATATGTATAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	412	0.0024	44	c.82- others(59): Show c.82-3783_82-3782insGTATACATATACATGTATATGTATACATAT ACATGTATATGTAT	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16			chr17	TogoVar
FXR2_chr17_7586230_7619897	7609981	T T	TATACATG others(37): Show TATACATGTATATGTATACATATATATATACATGCATATGTATAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03453.hp1 HG02965.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	2	393	0.0051	44	c.82- others(59): Show c.82-3833_82-3832insGTATACATATGCATGTATATATATATGTAT ACATATACATGTAT	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16			chr17	TogoVar
FXYD4_chr10_43366636_43381335	43367417	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	294	0.0034	44	c.-45 others(55): Show c.-4559_-4558insTATATATATATATATATATATATATATATATATA TATATATATA	FXYD4	ENSG00000150201.15	transcript	ENST00000476166.6	protein_coding		4218		chr10	TogoVar
FXYD5_chr19_35149735_35174881	35171969	A A	AGTTCTAA others(37): Show AGTTCTAACCGGAAATTTATCTTCCCTGCCACAACCTACGTGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	460	0.0022	44	c.23 others(55): Show c.2354_*2355insGTTCTAACCGGAAATTTATCTTCCCTGCCACAAC CTACGTGCCC	FXYD5	ENSG00000089327.15	transcript	ENST00000392219.7	protein_coding		2089		chr19	TogoVar
FYB2_chr1_56713789_56824404	56757675	T T	TTTCCTTC others(37): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0130 a0011c0014t0001g0130	1	359	0.0028	44	c.109 others(63): Show c.1098+1040_1098+1041insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAA	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19			chr1	TogoVar
FYB2_chr1_56713789_56824404	56757687	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0248 a0001c0025t0001g0248	1	218	0.0046	44	c.109 others(63): Show c.1098+1028_1098+1029insAGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAA	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19			chr1	TogoVar
FYB2_chr1_56713789_56824404	56757687	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19058.hp2 NA18950.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0058 a0001c0002t0001g0181 a0001c0001t0001g0058 a0001c0002t0001g0181	2	219	0.0091	44	c.109 others(63): Show c.1098+1028_1098+1029insAGAAAGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAA	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19			chr1	TogoVar
FYB2_chr1_56713789_56824404	56757687	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18968.hp2 NA18995.hp1 others(2): Show HG00544.hp2 NA18968.hp2 NA18995.hp1 NA19082.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0164 a0001c0001t0001g0274 a0001c0001t0001g0283 others(2): Show a0001c0001t0001g0164 a0001c0001t0001g0274 a0001c0001t0001g0283 a0001c0001t0001g0300 a0001c0002t0001g0226	5	222	0.0225	44	c.109 others(63): Show c.1098+1028_1098+1029insAGAAAGAAAGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAA	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19			chr1	TogoVar
FYB2_chr1_56713789_56824404	56757687	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02273.hp1 HG02273.hp2 others(2): Show HG00140.hp2 HG02273.hp1 HG02273.hp2 NA18612.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0079 others(2): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0079 a0001c0001t0001g0290 a0001c0001t0004g0273	5	222	0.0225	44	c.109 others(63): Show c.1098+1028_1098+1029insAGAAAGAAAGAAAGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAA	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19			chr1	TogoVar
FYB2_chr1_56713789_56824404	56757687	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19007.hp2 NA19058.hp1 NA18942.hp1 NA19007.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0176 a0001c0001t0002g0262 a0001c0002t0001g0092 a0001c0001t0002g0176 a0001c0001t0002g0262 a0001c0002t0001g0092	3	220	0.0136	44	c.109 others(63): Show c.1098+1028_1098+1029insAGAAAGAAAGAAAGAAAGAAGGAAGG AAGGAAGGAAGGAAGGAA	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19			chr1	TogoVar
FYB2_chr1_56713789_56824404	56757687	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0241 a0008c0011t0001g0242 a0008c0011t0001g0241 a0008c0011t0001g0242	2	219	0.0091	44	c.109 others(63): Show c.1098+1028_1098+1029insAGAAAGAAAGAAAGAAAGAAAGAAGG AAGGAAGGAAGGAAGGAA	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19			chr1	TogoVar
FYB2_chr1_56713789_56824404	56757687	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	218	0.0046	44	c.109 others(63): Show c.1098+1028_1098+1029insAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAGGAAGGAA	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19			chr1	TogoVar
G3BP2_chr4_75637786_75678411	75643295	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG01261.hp1 HG02976.hp1 others(2): Show HG00642.hp1 HG01261.hp1 HG02976.hp1 HG03130.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0027 a0001c0001t0018 a0001c0001t0027	a0001c0001t0018g0061 a0001c0001t0018g0073 a0001c0001t0018g0075 others(2): Show a0001c0001t0018g0061 a0001c0001t0018g0073 a0001c0001t0018g0075 a0001c0001t0027g0045 a0001c0001t0027g0101	5	137	0.0365	44	c.21 others(55): Show c.2134_*2135insTATATATATATATATATATATATATATATATATA TATATATATA	G3BP2	ENSG00000138757.15	transcript	ENST00000359707.9	protein_coding	12/12	2134		chr4	TogoVar
GABBR2_chr9_98283109_98713935	98436286	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATCCATAA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0164 a0001c0003t0006g0164	1	143	0.0070	44	c.123 others(65): Show c.1236+17694_1236+17695insTTATGGATATATATATATATATAT ATATATATATATATATATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98688394	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	17	0.0588	44	c.321 others(63): Show c.321+20022_321+20023insATATATATATATATATATATATATAT ATATATATATATATATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABRA2_chr4_46238548_46395128	46389802	G G	GGAGAGAG others(37): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0212 a0001c0002t0008g0212	1	24	0.0417	44	c.-12 others(52): Show c.-122_-79dupTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTC	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	1/10	1097		chr4	TogoVar
GABRA4_chr4_46913900_46998581	46977330	A A	AAGGGAGG others(37): Show AAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0291 a0001c0001t0004g0291	1	318	0.0031	44	c.494 others(57): Show c.494+79_494+80insCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCT TCCTCCCTCCCT	GABRA4	ENSG00000109158.11	transcript	ENST00000264318.4	protein_coding	4/8			chr4	TogoVar
GABRB3_chr15_26538552_26778066	26554125	G G	GTATATAT others(37): Show GTATATATATATAAAGTGTGTGTGTATATATATATATATAAAGTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02698.hp2 HG00140.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0005 a0001c0001t0014g0199 a0001c0001t0004g0005 a0001c0001t0014g0199	2	183	0.0109	44	c.108 others(63): Show c.1081-5992_1081-5991insTACTTTATATATATATATATACACAC ACACTTTATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26606776	A A	AGATAGAT others(37): Show AGATAGATATATCGATAGATATATCGATAGATAGATATATCTATC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	161	0.0062	44	c.461 others(63): Show c.461+14537_461+14538insGATAGATATATCTATCTATCGATATA TCTATCGATATATCTATC	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	4/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26606776	A A	AGATATAT others(37): Show AGATATATCTATCGATAGATATATCGATAGATAGATATATCTATC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00438.hp2 others(22): Show HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG01081.hp1 HG01081.hp2 HG01433.hp1 HG01993.hp1 HG02040.hp1 HG02486.hp1 HG02559.hp2 HG02698.hp1 HG03471.hp1 HG03540.hp2 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG04115.hp2 HG04228.hp2 NA18612.hp2 NA18964.hp2 NA19010.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0023 a0001c0001t0028 a0001c0001t0033	a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0137 others(22): Show a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0137 a0001c0001t0001g0168 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0002g0011 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0102 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0177 a0001c0001t0003g0114 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0009g0033 a0001c0001t0009g0056 a0001c0001t0009g0166 a0001c0001t0009g0186 a0001c0001t0023g0111 a0001c0001t0028g0062 a0001c0001t0033g0203	25	185	0.1351	44	c.461 others(63): Show c.461+14537_461+14538insGATAGATATATCTATCTATCGATATA TCTATCGATAGATATATC	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	4/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26606805	T T	TATCGATA others(37): Show TATCGATAGATATATCGATAGATAGATAGATATATTGATAGATAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01516.hp1 HG01071.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0060 a0001c0001t0002g0053 a0001c0001t0002g0060	2	58	0.0345	44	c.461 others(63): Show c.461+14508_461+14509insCTATCTATCAATATATCTATCTATCT ATCGATATATCTATCGAT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	4/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26606809	G G	GATAGATA others(37): Show GATAGATATATCTATAGATAGATATATCTATAGATAGATATATCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0086 a0001c0001t0017g0086	1	202	0.0050	44	c.461 others(63): Show c.461+14504_461+14505insAGATATATCTATCTATAGATATATCT ATCTATAGATATATCTAT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	4/8			chr15	TogoVar
GABRD_chr1_2014345_2035758	2028301	T T	TGCCCGCC others(37): Show TGCCCGCCGCCCCTTCCGCGCGCGCCCGCCGCCCCTTCCGCGCGC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	362	0.0028	44	c.691 others(57): Show c.691+27_691+28insGCGCGCCCGCCGCCCCTTCCGCGCGCGCCCGC CGCCCCTTCCGC	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
GABRG3_chr15_26966181_27546984	27335138	T T	TGTGACTG others(37): Show TGTGACTGCTATACCCATTGGTAGACAAGACCCCTTTTGACTATC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0036 a0001c0007t0036	a0001c0007t0036g0016 a0001c0007t0036g0016	1	92	0.0109	44	c.574 others(61): Show c.574+6291_574+6292insATCGTGACTGCTATACCCATTGGTAGAC AAGACCCCTTTTGACT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27335157	G G	GGTAGACA others(37): Show GGTAGACAAGACCCCTTTTGACTATCGTGACTGCTATACCCATTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01109.hp2 HG01261.hp1 others(10): Show HG00408.hp2 HG01109.hp2 HG01261.hp1 HG01884.hp2 HG02145.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG04115.hp1 NA18522.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0013	a0001c0001t0021 a0001c0002t0001 a0001c0002t0035 others(9): Show a0001c0001t0021 a0001c0002t0001 a0001c0002t0035 a0001c0003t0009 a0001c0003t0012 a0001c0003t0014 a0001c0003t0019 a0001c0003t0037 a0001c0005t0002 a0001c0007t0004 a0001c0008t0008 a0001c0013t0023	a0001c0001t0021g0072 a0001c0002t0001g0046 a0001c0002t0035g0019 others(10): Show a0001c0001t0021g0072 a0001c0002t0001g0046 a0001c0002t0035g0019 a0001c0003t0009g0059 a0001c0003t0012g0023 a0001c0003t0014g0011 a0001c0003t0019g0064 a0001c0003t0037g0018 a0001c0005t0002g0055 a0001c0005t0002g0067 a0001c0007t0004g0056 a0001c0008t0008g0002 a0001c0013t0023g0006	13	73	0.1781	44	c.574 others(61): Show c.574+6291_574+6292insATCGTGACTGCTATACCCATTAGTAGAC AAGACCCCTTTTGACT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GADD45B_chr19_2471127_2483257	2482827	A A	ACACACAC others(37): Show ACACACACACACGCATGCACACACACACATGCACACACACGCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02280.hp1 others(3): Show HG01891.hp2 HG02257.hp2 HG02280.hp1 HG03098.hp2 HG03209.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0001g0001 a0001c0001t0003g0001	6	457	0.0131	44	c.52 others(55): Show c.5226_*5227insCACACACACACGCATGCACACACACACATGCACA CACACGCATG	GADD45B	ENSG00000099860.9	transcript	ENST00000215631.9	protein_coding		4571		chr19	TogoVar
GAL3ST2_chr2_241771822_241809287	241805214	T T	TCCCTCCC others(37): Show TCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	240	0.0042	44	c.10 others(55): Show c.1048_*1049insCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCC ACCCTCCCTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		928		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806424	T T	TCCCTCCC others(37): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	153	0.0065	44	c.22 others(55): Show c.2258_*2259insCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2138		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806758	A A	ACCTTCCC others(37): Show ACCTTCCCTCCCTCCCTCAGCCCAGGGACCTCTGCAGGCCACCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	192	0.0052	44	c.25 others(55): Show c.2592_*2593insCCTTCCCTCCCTCCCTCAGCCCAGGGACCTCTGC AGGCCACCTT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2472		chr2	TogoVar
GALC_chr14_87928014_87998182	87936896	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18966.hp2 NA18959.hp2 NA18966.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0282 a0002c0004t0002g0283 a0002c0004t0002g0282 a0002c0004t0002g0283	2	40	0.0500	44	c.191 others(63): Show c.1912-2019_1912-2018insTATATATATATATATATATATATATA TATATATATATATATATA	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	16/16			chr14	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(37): Show ATATATATATATATATATGTATATATATATATATATACATATATT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	136	0.0074	44	c.267 others(61): Show c.267-7163_267-7162insATATATATATATATATGTATATATATAT ATATATACATATATTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(37): Show ATATATATATATATATGTATATATATATATATATATACATATATT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	136	0.0074	44	c.267 others(61): Show c.267-7163_267-7162insATATATATATATATGTATATATATATAT ATATATACATATATTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar

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