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
GALK2_chr15_49165247_49336882	49299735	T T	TTTCTTTC others(37): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02602.hp2 NA18942.hp1 HG01167.hp1 HG02602.hp2 NA18942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0018 a0001c0002t0004 a0001c0002t0018	a0001c0002t0004g0003 a0001c0002t0004g0179 a0001c0002t0018g0128 a0001c0002t0004g0003 a0001c0002t0004g0179 a0001c0002t0018g0128	3	232	0.0129	44	c.967 others(61): Show c.967+7200_967+7201insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTCTTTCTTTCTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALM_chr2_38661114_38739765	38686258	T T	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp1 HG01258.hp2 HG01081.hp2 HG01192.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0027 a0001c0001t0001 a0001c0001t0002 a0001c0001t0027	a0001c0001t0001g0013 a0001c0001t0002g0188 a0001c0001t0027g0031 a0001c0001t0001g0013 a0001c0001t0002g0188 a0001c0001t0027g0031	3	281	0.0107	44	c.553 others(61): Show c.553-3536_553-3535insCTCTTTCTCTCTTTCTCTCTTTCTCTCT TTCTTTCTTTCTTTCT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38686258	T T	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTCTCTTTCTC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18970.hp1 NA18950.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	280	0.0071	44	c.553 others(61): Show c.553-3535_553-3534insTCTTTCTCTCTTTCTCTCTTTCTCTCTT TCTTTCTTTCTTTCTT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154014635	C C	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0009 a0001c0001t0027g0009	1	36	0.0278	44	c.142 others(63): Show c.142+70011_142+70012insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269906	G G	GTATATAT others(37): Show GTATATATATATATATATATTTATATATATGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA19240.hp1 HG01261.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0052 a0001c0001t0006 a0001c0001t0052	a0001c0001t0006g0105 a0001c0001t0052g0031 a0001c0001t0006g0105 a0001c0001t0052g0031	2	17	0.1176	44	c.975 others(63): Show c.975+10789_975+10790insATATATATGTGTATATATATATATAT ATATATATATATATATTT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT15_chr3_16169680_16235165	16172328	T T	TGAACACA others(37): Show TGAACACAAAAATGAAGAAATGAGCCACATGGATGACTTTCTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG01433.hp2 others(1): Show HG01074.hp2 HG01099.hp2 HG01433.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0023 a0001c0002t0003g0344 a0001c0002t0003g0345 others(1): Show a0001c0002t0003g0023 a0001c0002t0003g0344 a0001c0002t0003g0345 a0001c0002t0003g0346	4	372	0.0108	44	c.-28 others(55): Show c.-2824_-2823insGAACACAAAAATGAAGAAATGAGCCACATGGATG ACTTTCTGGG	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2351		chr3	TogoVar
GALNT17_chr7_71127144_71718599	71319094	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp2 HG02280.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0038 a0001c0001t0005g0050 a0001c0001t0004g0038 a0001c0001t0005g0050	2	68	0.0294	44	c.239 others(63): Show c.239-16455_239-16454insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71319096	A A	ATCTATCT others(37): Show ATCTATCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0009 a0002c0010t0003g0009	1	33	0.0303	44	c.239 others(63): Show c.239-16451_239-16450insATCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT2_chr1_230062238_230287122	230083048	T T	TGGGATGA others(37): Show TGGGATGATGGAGCAGGGAAGCCGGGATGATGGAGCAGGGAACCC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0212 a0001c0002t0001g0212	1	322	0.0031	44	c.126 others(63): Show c.126+15683_126+15684insCCCGGGATGATGGAGCAGGGAAGCCG GGATGATGGAGCAGGGAA	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT9_chr12_132191372_132334589	132241617	A A	ACACTTCC others(37): Show ACACTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACAC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0137 a0001c0003t0001g0137	1	174	0.0057	44	c.107 others(63): Show c.1077+6292_1077+6293insGTGTGGCGTGTGTGTAATGGGTATAG GGAGGGCCCCGGGAAGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNTL6_chr4_171808404_173046559	173022070	G G	GGAAGGAA others(37): Show GGAAGGAAGGAAAGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18906.hp2 HG02723.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0037 a0001c0001t0002g0003 a0001c0001t0002g0037	2	27	0.0741	44	c.163 others(61): Show c.1638+456_1638+457insAGAAGGAAGGAAGGAAAGAAGGAAGGAA GGAAAGAAGGAAGGAA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAPVD1_chr9_125256826_125372207	125293854	A A	ATATATAT others(37): Show ATATATATAAATATATTTTATATATATATATATATAAATATATTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0128 a0001c0003t0006g0128	1	325	0.0031	44	c.-14 others(63): Show c.-149-1596_-149-1595insAATATATTTTATATATATATATATAT AAATATATTTTATATATA	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAREM1_chr18_32258522_32475882	32471918	G G	GCTTGCTT others(37): Show GCTTGCTTGCTTGCTTGCTTGCTTGCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0166 a0001c0004t0001g0166	1	148	0.0068	44	c.-14 others(55): Show c.-1491_-1490insAAAGAAAGAAAGAAAGAAAGCAAGCAAGCAAGCA AGCAAGCAAG	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding		1037		chr18	TogoVar
GAREM1_chr18_32258522_32475882	32471918	G G	GCTTGCTT others(37): Show GCTTGCTTGCTTGCTTGCTTGCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0179 a0001c0001t0007g0179	1	148	0.0068	44	c.-14 others(55): Show c.-1491_-1490insAAAGAAAGAAAGAAAGAAAGAAAGCAAGCAAGCA AGCAAGCAAG	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding		1037		chr18	TogoVar
GAREM1_chr18_32258522_32475882	32471918	G G	GCTTGCTT others(37): Show GCTTGCTTGCTTGCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02922.hp1 others(1): Show HG01884.hp1 HG01891.hp2 HG02922.hp1 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0005 a0001c0001 a0001c0015 a0002c0005	a0001c0001t0006 a0001c0015t0014 a0002c0005t0004 others(1): Show a0001c0001t0006 a0001c0015t0014 a0002c0005t0004 a0002c0005t0011	a0001c0001t0006g0174 a0001c0015t0014g0177 a0002c0005t0004g0009 others(1): Show a0001c0001t0006g0174 a0001c0015t0014g0177 a0002c0005t0004g0009 a0002c0005t0011g0047	4	151	0.0265	44	c.-14 others(55): Show c.-1491_-1490insAAAGAAAGAAAGAAAGAAAGAAAGAAAGCAAGCA AGCAAGCAAG	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding		1037		chr18	TogoVar
GAREM1_chr18_32258522_32475882	32471918	G G	GCTTGCTT others(37): Show GCTTGCTTGCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0032 a0003c0010t0032	a0003c0010t0032g0163 a0003c0010t0032g0163	1	148	0.0068	44	c.-14 others(55): Show c.-1491_-1490insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGCA AGCAAGCAAG	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding		1037		chr18	TogoVar
GAS2_chr11_22661611_22818001	22789423	G G	GATATATA others(37): Show GATATATATAAATATATATATATATAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp2 NA19011.hp1 HG00423.hp1 HG00673.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0061 a0001c0002t0001g0123 a0001c0002t0001g0213 a0001c0001t0001g0061 a0001c0002t0001g0123 a0001c0002t0001g0213	3	101	0.0297	44	c.724 others(63): Show c.724-22374_724-22373insTATATATAAATATATATATATATAAA TATATATATATATATATA	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
GAS2_chr11_22661611_22818001	22789454	A A	ATATATAT others(37): Show ATATATATATATATATATAAATATATATATATATATATATATTCT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	251	0.0040	44	c.724 others(63): Show c.724-22343_724-22342insATATATATATATATATAAATATATAT ATATATATATATATTCTT	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
GATA5_chr20_62458497_62480995	62471431	A A	ATTTTTTT others(37): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	379	0.0026	44	c.699 others(61): Show c.699+1971_699+1972insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6			chr20	TogoVar
GATA5_chr20_62458497_62480995	62476885	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	62	0.0161	44	c.-97 others(53): Show c.-978_-977insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		891		chr20	TogoVar
GATA5_chr20_62458497_62480995	62476946	T T	TTCTCTCT others(37): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0213 a0001c0002t0003g0213	1	355	0.0028	44	c.-10 others(55): Show c.-1039_-1038insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		952		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477098	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0005 a0001c0011t0005	a0001c0011t0005g0048 a0001c0011t0005g0048	1	162	0.0062	44	c.-11 others(55): Show c.-1191_-1190insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGG AAGGAAGGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1104		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477098	C C	CTTCCTTC others(37): Show CTTCCTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0235 a0002c0005t0004g0235	1	162	0.0062	44	c.-11 others(55): Show c.-1191_-1190insAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAG AAAGAAGGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1104		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477241	C C	CCTTTCTT others(37): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0117 a0001c0002t0002g0117	1	343	0.0029	44	c.-13 others(55): Show c.-1334_-1333insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1247		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477270	C C	CTTCTTTC others(37): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTTTCATTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	377	0.0027	44	c.-13 others(55): Show c.-1363_-1362insAGAAATGAAAAGAAGAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1276		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477303	T T	TTTCTTTC others(37): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	284	0.0035	44	c.-13 others(55): Show c.-1396_-1395insGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1309		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477303	T T	TTTCTTTC others(37): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02602.hp1 NA19059.hp2 others(1): Show HG02027.hp2 HG02602.hp1 NA19059.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0003 a0001c0001t0004g0169 a0001c0002t0001g0028 others(1): Show a0001c0001t0001g0003 a0001c0001t0004g0169 a0001c0002t0001g0028 a0001c0002t0002g0279	4	287	0.0139	44	c.-13 others(55): Show c.-1396_-1395insGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1309		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(37): Show TCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	148	0.0068	44	c.-13 others(55): Show c.-1398_-1397insGAGGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAA AGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(37): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0027 a0001c0002t0006g0027	1	148	0.0068	44	c.-13 others(55): Show c.-1398_-1397insGAGGGAGGGAGGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(37): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG03130.hp2 HG02083.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0071 a0001c0012t0001g0019 a0001c0001t0001g0071 a0001c0012t0001g0019	2	149	0.0134	44	c.-13 others(55): Show c.-1398_-1397insGAGGGAGGAAGGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(37): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG04204.hp1 others(1): Show HG01257.hp1 HG01258.hp2 HG04204.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0002g0178 a0001c0001t0004g0002 a0001c0001t0001g0001 a0001c0001t0002g0178 a0001c0001t0004g0002	4	151	0.0265	44	c.-13 others(55): Show c.-1398_-1397insGAGGGAGGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA6_chr18_22164589_22207528	22204288	C C	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01981.hp1 HG02572.hp1 others(5): Show HG00544.hp1 HG01981.hp1 HG02572.hp1 HG02630.hp1 HG02809.hp1 HG03239.hp1 HG03471.hp1 NA18950.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0002 a0003c0003t0002 a0001c0001t0002 a0002c0002t0002 a0003c0003t0002	a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0002g0083 others(5): Show a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0002g0083 a0001c0001t0002g0120 a0001c0001t0002g0150 a0002c0002t0002g0001 a0002c0002t0002g0042 a0003c0003t0002g0065	8	187	0.0428	44	c.34 others(55): Show c.3465_*3466insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding		1761		chr18	TogoVar
GATAD2A_chr19_19400675_19513932	19441004	C C	CTTCCTTC others(37): Show CTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	296	0.0034	44	c.-6- others(61): Show c.-6-24302_-6-24301insCCTTCCTTCTTTCCTTCCCTTCCTTCCC TTCCTTCCCTTCCTTC	GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
GATB_chr4_151665504_151766007	151697957	A A	ATATATAT others(37): Show ATATATATATGTGTATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	317	0.0032	44	c.119 others(63): Show c.1197+3371_1197+3372insCACATATATATATATATATATATATA TATATACACATATATATA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151697965	A A	ATGTGTGT others(37): Show ATGTGTGTATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	249	0.0040	44	c.119 others(63): Show c.1197+3363_1197+3364insCATATATATATATATATATATATATA TATATATATATACACACA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151735734	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	178	0.0056	44	c.328 others(63): Show c.328-16197_328-16196insTATATATATATATATATATATATATA TATATATATATATATATA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	2/12			chr4	TogoVar
GBE1_chr3_81484703_81766645	81750655	A A	ATGTATAT others(37): Show ATGTATATATATATATGTATATATATATGTATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	273	0.0037	44	c.143 others(63): Show c.143+10719_143+10720insCATATATATATATATACATATATATA TACATATATATATATACA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GCNT2_chr6_10516351_10634368	10569235	C C	CCACACAC others(37): Show CCACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18982.hp2 NA18956.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0100 a0001c0001t0001g0026 a0001c0001t0001g0100	2	96	0.0208	44	c.925 others(63): Show c.925+39438_925+39439insACACACACACACACACACACACACAC ACACACACACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569235	C C	CCACACAC others(37): Show CCACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18982.hp2 NA18956.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0188 a0001c0001t0001g0138 a0001c0001t0001g0188	2	104	0.0192	44	c.919 others(63): Show c.919+11932_919+11933insACACACACACACACACACACACACAC ACACACACACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT3_chr15_59606783_59627723	59610507	C C	CTCCTTCC others(37): Show CTCCTTCCTTCCCTCCCTCCTTCCTTCTCTCCCTCCCTCCTTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0001 a0001c0001t0031g0001	1	326	0.0031	44	c.-17 others(55): Show c.-1725_-1724insTCCTTCCTTCCCTCCCTCCTTCCTTCTCTCCCTC CCTCCTTCCG	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		1275		chr15	TogoVar
GDA_chr9_72144440_72257224	72198846	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA20129.hp1 NA19002.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0277 a0001c0001t0007g0236 a0001c0001t0001g0277 a0001c0001t0007g0236	2	183	0.0109	44	c.212 others(61): Show c.212+3273_212+3274insTATATATATATATATATATATATATATA TATATATATATATATA	GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GDPD1_chr17_59215511_59280970	59255796	T T	TATATATA others(37): Show TATATATATATACACATATATATATACGCGTATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp2 HG03579.hp2 others(1): Show HG02486.hp1 HG02630.hp2 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0025 a0001c0001t0015 a0001c0001t0025	a0001c0001t0015g0266 a0001c0001t0015g0267 a0001c0001t0015g0268 others(1): Show a0001c0001t0015g0266 a0001c0001t0015g0267 a0001c0001t0015g0268 a0001c0001t0025g0269	4	301	0.0133	44	c.368 others(61): Show c.368-1326_368-1325insATATATATATACACATATATATATACGC GTATATATATATACAC	GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	4/9			chr17	TogoVar
GDPD1_chr17_59215511_59280970	59255863	A A	ATATATAT others(37): Show ATATATATACACGTATATATATATATATATATATACACACACACG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0256 a0001c0001t0016g0256	1	275	0.0036	44	c.368 others(61): Show c.368-1251_368-1250insCACGTATATATATATATATATATATACA CACACACGTATATATA	GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPD1_chr17_59215511_59280970	59255863	A A	ATATATAT others(37): Show ATATATATACACGTATATATATATATATATATATATACACACACG	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19240.hp2 HG03516.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0026 a0001c0001t0016 a0001c0001t0026	a0001c0001t0016g0255 a0001c0001t0026g0257 a0001c0001t0016g0255 a0001c0001t0026g0257	2	276	0.0072	44	c.368 others(61): Show c.368-1251_368-1250insCACGTATATATATATATATATATATATA CACACACGTATATATA	GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
GEMIN7_chr19_45074260_45096518	45095386	T T	TTAAGCCT others(37): Show TTAAGCCTTCCAAAGTGCTGGGATTACCGGCATGAGCCACCGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG03516.hp1 HG03540.hp2 HG02451.hp2 HG03516.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0029 a0001c0001t0009g0053 a0001c0001t0008g0029 a0001c0001t0009g0053	3	418	0.0072	44	c.48 others(55): Show c.4876_*4877insTAAGCCTTCCAAAGTGCTGGGATTACCGGCATGA GCCACCGTGC	GEMIN7	ENSG00000142252.11	transcript	ENST00000270257.9	protein_coding		3869		chr19	TogoVar
GFM2_chr5_74716206_74772117	74762925	C C	CCCCCCCC others(37): Show CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	370	0.0027	44	c.63+ others(57): Show c.63+754_63+755insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGG	GFM2	ENSG00000164347.18	transcript	ENST00000296805.8	protein_coding	2/20			chr5	TogoVar
GFOD1_chr6_13352830_13492600	13409088	G G	GGAAAGAA others(37): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0104 a0001c0001t0024g0104	1	165	0.0061	44	c.254 others(63): Show c.254-43470_254-43427dupTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFRA1_chr10_116051925_116278206	116117523	A A	AGATGGAT others(37): Show AGATGGATGGATGGGTGGGTGGGTGGGTGGGTGGGTGGATGGATG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0083 a0001c0001t0029g0121 a0001c0001t0029g0083 a0001c0001t0029g0121	2	211	0.0095	44	c.770 others(61): Show c.770+7697_770+7698insCATCCATCCACCCACCCACCCACCCACC CACCCATCCATCCATC	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	6/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116117561	A A	ATGGATGG others(37): Show ATGGATGGATGGATGGATGGATGGGTGGGTGGGTGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01516.hp1 others(1): Show HG00738.hp1 HG00741.hp2 HG01516.hp1 NA19009.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0008 a0001c0001 a0002c0003 a0004c0008	a0001c0001t0015 a0002c0003t0012 a0002c0003t0062 others(1): Show a0001c0001t0015 a0002c0003t0012 a0002c0003t0062 a0004c0008t0009	a0001c0001t0015g0184 a0002c0003t0012g0193 a0002c0003t0062g0190 others(1): Show a0001c0001t0015g0184 a0002c0003t0012g0193 a0002c0003t0062g0190 a0004c0008t0009g0004	4	185	0.0216	44	c.770 others(61): Show c.770+7659_770+7660insCCCACCCACCCACCCACCCACCCATCCA TCCATCCATCCATCCA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	6/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116117561	A A	ATGGATGG others(37): Show ATGGATGGATGGATGGATGGGTGGGTGGGTGGGTGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02040.hp1 HG00673.hp2 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0066 a0001c0001t0060 a0001c0001t0066	a0001c0001t0060g0145 a0001c0001t0066g0192 a0001c0001t0060g0145 a0001c0001t0066g0192	2	183	0.0109	44	c.770 others(61): Show c.770+7659_770+7660insCCCACCCACCCACCCACCCACCCACCCA TCCATCCATCCATCCA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	6/10			chr10	TogoVar

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