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
GATA5_chr20_62458497_62480995	62477151	T T	TTTCTCTT others(18): Show TTTCTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0039 a0001c0004t0039	a0001c0004t0039g0286 a0001c0004t0039g0286	1	379	0.0026	25	c.-12 others(36): Show c.-1244_-1243insGAAAGAAAGAAAGAAAGAAAGAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1157		chr20	TogoVar
GCH1_chr14_54837017_54907826	54855505	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0027	1	159	0.0063	25	c.509 others(42): Show c.509+4175_509+4176insTTTTTTTTTTTTTTTTTTTTTTTTT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	3/5			chr14	TogoVar
GCNT2_chr6_10516351_10634368	10534139	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp1 HG01361.hp2 others(5): Show HG00741.hp2 HG01175.hp1 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01978.hp2 HG03139.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0022 a0001c0001t0001g0129 a0001c0001t0001g0130 others(5): Show a0001c0001t0001g0022 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0013g0155	8	165	0.0485	25	c.925 others(42): Show c.925+4304_925+4305insTTTTTTTTTTTTTTTTTTTTTTTTT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10569274	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	312	0.0032	25	c.925 others(44): Show c.925+39438_925+39439insACACACACACACACACACACACACA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4			chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569274	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18994.hp2 HG02056.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0111 a0001c0001t0001g0112	2	332	0.0060	25	c.919 others(44): Show c.919+11932_919+11933insACACACACACACACACACACACACA	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2			chr6	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 NA18991.hp1 NA18997.hp2 others(4): Show HG03710.hp1 NA18991.hp1 NA18997.hp2 NA19063.hp1 NA19083.hp1 NA19088.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0012 a0002c0002t0002 a0001c0001t0002 a0001c0001t0012 a0002c0002t0002	a0001c0001t0002g0133 a0001c0001t0012g0087 a0002c0002t0002g0002 others(3): Show a0001c0001t0002g0133 a0001c0001t0012g0087 a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0071 a0002c0002t0002g0073	7	278	0.0252	25	c.21 others(36): Show c.2198_*2199insAAAAAAAAAAAAAAAAAAAAAAAAA	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding		1277		chr16	TogoVar
GDAP1L1_chr20_44242308_44285947	44276412	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	99	0.0101	25	c.761 others(42): Show c.761-2545_761-2544insGAAAGAAAGAAAGAAAGAAAGAAAG	GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding	5/5			chr20	TogoVar
GDAP1L1_chr20_44242308_44285947	44281703	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	386	0.0026	25	c.24 others(36): Show c.2403_*2404insACACACACACACACACACACACACA	GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding		757		chr20	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	273	0.0037	25	c.486 others(42): Show c.486+1166_486+1167insATATATATATATATATATATATATT	GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19007.hp1 NA18612.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0252 a0001c0001t0001g0021 a0001c0001t0001g0252	2	274	0.0073	25	c.486 others(42): Show c.486+1166_486+1167insATATATATATATATATATATATTTT	GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	273	0.0037	25	c.486 others(42): Show c.486+1166_486+1167insATATATATATATATATTTTTTTTTT	GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
GFAP_chr17_44898159_44920500	44908334	C C	CCCAAGTC others(18): Show CCCAAGTCCTGGCTGCTCTGTCCAGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00544.hp2 others(88): Show HG00140.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG02004.hp1 HG02055.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp1 HG03710.hp2 HG03927.hp2 NA18940.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18955.hp1 NA18960.hp2 NA18967.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18985.hp2 NA18989.hp1 NA18990.hp1 NA18995.hp2 NA19001.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19043.hp2 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(7): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0011t0029	a0001c0001t0004g0005 a0001c0001t0004g0007 a0001c0001t0004g0012 others(40): Show a0001c0001t0004g0005 a0001c0001t0004g0007 a0001c0001t0004g0012 a0001c0001t0004g0026 a0001c0001t0004g0043 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0069 a0001c0001t0004g0074 a0001c0001t0004g0078 a0001c0001t0004g0082 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0095 a0001c0001t0004g0115 a0001c0001t0006g0011 a0001c0001t0006g0033 a0001c0001t0006g0042 a0001c0001t0006g0045 a0001c0001t0006g0052 a0001c0001t0006g0080 a0001c0001t0006g0081 a0001c0001t0006g0114 a0001c0001t0006g0135 a0001c0001t0006g0137 a0001c0001t0007g0017 a0001c0001t0007g0066 a0001c0001t0007g0083 a0001c0001t0007g0085 a0001c0001t0007g0094 a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0010g0020 a0001c0001t0010g0062 a0001c0001t0012g0044 a0001c0001t0017g0084 a0001c0001t0017g0087 a0001c0001t0027g0091 a0001c0001t0028g0126 a0001c0001t0030g0136 a0001c0011t0029g0123	91	422	0.2156	25	c.117 others(42): Show c.1172-186_1172-185insACTGGACAGAGCAGCCAGGACTTGG	GFAP	ENSG00000131095.14	transcript	ENST00000588735.3	protein_coding	7/8			chr17	TogoVar
GFOD1_chr6_13352830_13492600	13409132	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0092 a0001c0001t0013g0092	1	226	0.0044	25	c.254 others(44): Show c.254-43471_254-43470insCTTTCTTTCTTTCTTTCTTTCTTTC	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFRAL_chr6_55322469_55407493	55335895	C C	CTTTATTT others(18): Show CTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0104 a0002c0002t0001g0104	1	31	0.0323	25	c.316 others(42): Show c.316+1970_316+1994dupATTTTATTTTATTTTATTTTATTTT	GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
GFUS_chr8_143607618_143622549	143619147	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00741.hp1 others(27): Show HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01099.hp2 HG01168.hp2 HG01361.hp1 HG01891.hp1 HG01993.hp1 HG02027.hp2 HG02293.hp1 HG03486.hp2 HG03490.hp2 HG03927.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18943.hp1 NA18943.hp2 NA18951.hp2 NA18953.hp2 NA18975.hp2 NA18997.hp2 NA19000.hp2 NA19007.hp2 NA19010.hp1 NA19063.hp1 NA19064.hp2 NA19079.hp2 NA19083.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0002c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0003g0005 a0001c0002t0001g0022 a0002c0005t0001g0024	30	191	0.1571	25	c.-16 others(36): Show c.-1686_-1685insTTTTTTTTTTTTTTTTTTTTTTTTT	GFUS	ENSG00000104522.16	transcript	ENST00000425753.7	protein_coding		1599		chr8	TogoVar
GGNBP2_chr17_36539919_36594848	36548615	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0030 a0001c0002t0003g0030	1	38	0.0263	25	c.93+ others(40): Show c.93+2811_93+2835dupAAAAAAAAAAAAAAAAAAAAAAAAA	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36575648	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	121	0.0083	25	c.642 others(42): Show c.642-2334_642-2333insATATATATATATTTTTTTTTTTTTT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGN_chr19_38379267_38393034	38380723	T T	TGTGTGTG others(18): Show TGTGTGTGTGCGCGCGCGGTGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0025 a0002c0003t0001g0025	1	326	0.0031	25	c.36 others(36): Show c.3688_*3689insGCGCGCACCGCGCGCGCACACACAC	GGN	ENSG00000179168.15	transcript	ENST00000334928.11	protein_coding		3543		chr19	TogoVar
GGT1_chr22_24598193_24633996	24605554	T T	TATAATAT others(18): Show TATAATATTATATAATGTGTATTATA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	413	0.0024	25	c.-42 others(44): Show c.-429+2027_-429+2028insATAATATTATATAATGTGTATTATA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15			chr22	TogoVar
GHR_chr5_42418439_42726878	42474333	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAAGAAAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02602.hp1 HG00733.hp2 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0059 a0002c0002t0001g0019 a0002c0002t0001g0059	2	203	0.0099	25	c.-12 others(44): Show c.-12+50385_-12+50386insGAAAGAAAGAAAAGAAATAAAGAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42576046	T T	TAATAAAA others(18): Show TAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03704.hp2 HG02040.hp2 HG03704.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0029 a0002c0002t0001 a0001c0004t0029 a0002c0002t0001	a0001c0004t0029g0118 a0002c0002t0001g0189 a0001c0004t0029g0118 a0002c0002t0001g0189	2	121	0.0165	25	c.70+ others(42): Show c.70+10134_70+10158dupATAAAATAAAATAAAATAAAATAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42576099	T T	TAAAATAA others(18): Show TAAAATAAAATAAAATAAAATAAATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01123.hp1 HG01255.hp1 others(3): Show HG00280.hp1 HG01123.hp1 HG01255.hp1 HG01255.hp2 HG01517.hp1 HG04115.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0007	a0001c0001t0002 a0002c0002t0006 a0003c0003t0003 others(1): Show a0001c0001t0002 a0002c0002t0006 a0003c0003t0003 a0004c0007t0018	a0001c0001t0002g0176 a0002c0002t0006g0072 a0003c0003t0003g0089 others(3): Show a0001c0001t0002g0176 a0002c0002t0006g0072 a0003c0003t0003g0089 a0003c0003t0003g0121 a0003c0003t0003g0190 a0004c0007t0018g0185	6	93	0.0645	25	c.70+ others(42): Show c.70+10158_70+10159insATAAAATAAAATAAAATAAATAAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42576099	T T	TAAAATAA others(18): Show TAAAATAAAATAAAATAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02109.hp1 HG02615.hp1 others(1): Show HG00735.hp1 HG02109.hp1 HG02615.hp1 HG02622.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0005	a0001c0001t0002 a0001c0004t0018 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0004t0018 a0002c0002t0001 a0003c0005t0002	a0001c0001t0002g0194 a0001c0004t0018g0152 a0002c0002t0001g0128 others(1): Show a0001c0001t0002g0194 a0001c0004t0018g0152 a0002c0002t0001g0128 a0003c0005t0002g0041	4	91	0.0440	25	c.70+ others(42): Show c.70+10158_70+10159insATAAAATAAAATAAATAAAATAAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GID8_chr20_62933147_62953475	62953345	G G	GCTGAGGA others(18): Show GCTGAGGACGAGCTCCCCGCTGGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	1	442	0.0023	25	c.84 others(36): Show c.8433_*8434insCTGAGGACGAGCTCCCCGCTGGCTT	GID8	ENSG00000101193.8	transcript	ENST00000266069.5	protein_coding		4871		chr20	TogoVar
GIMAP5_chr7_150732418_150748646	150746460	C C	CTTTTTTT others(18): Show CTTTTTTTCTTTTTTTTTCTTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	190	0.0053	25	c.33 others(36): Show c.3397_*3398insTTTTTTTCTTTTTTTTTCTTTTTCT	GIMAP5	ENSG00000196329.12	transcript	ENST00000358647.5	protein_coding		2815		chr7	TogoVar
GINM1_chr6_149561375_149596748	149562316	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01071.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0171 a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0171	3	221	0.0136	25	c.-40 others(36): Show c.-4099_-4098insTATATATATATATATTTTTTTTTTT	GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding		4058		chr6	TogoVar
GINS2_chr16_85671198_85693954	85685670	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0128 a0001c0001t0026g0128	1	163	0.0061	25	c.205 others(42): Show c.205+1789_205+1790insTTTTTTTTTTTTTTTTTTTTTTTTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GINS2_chr16_85671198_85693954	85685684	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0145	1	468	0.0021	25	c.205 others(42): Show c.205+1775_205+1776insGTTTTTTTTTTTTTTTTTTTTTTTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GINS2_chr16_85671198_85693954	85685685	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG01123.hp2 others(7): Show HG00609.hp2 HG00639.hp1 HG01123.hp2 HG01256.hp2 HG02027.hp1 HG02258.hp2 HG03017.hp2 HG03490.hp2 HG03492.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0017 others(1): Show a0001c0001t0003 a0001c0001t0015 a0001c0001t0017 a0001c0001t0031	a0001c0001t0003g0038 a0001c0001t0003g0121 a0001c0001t0003g0135 others(5): Show a0001c0001t0003g0038 a0001c0001t0003g0121 a0001c0001t0003g0135 a0001c0001t0015g0137 a0001c0001t0015g0138 a0001c0001t0015g0139 a0001c0001t0017g0058 a0001c0001t0031g0207	10	416	0.0240	25	c.205 others(42): Show c.205+1774_205+1775insGTTTTTTTTTTTTTTTTTTTTTTTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GINS4_chr8_41524261_41550030	41546849	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01123.hp1 HG02071.hp1 others(3): Show HG00673.hp1 HG01123.hp1 HG02071.hp1 HG03688.hp1 NA18973.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0102 a0001c0001t0001g0001 a0001c0001t0001g0102	6	88	0.0682	25	c.47 others(36): Show c.4762_*4763insTTTTTTTTTTTTTTTTTTTTTTTTT	GINS4	ENSG00000147536.12	transcript	ENST00000276533.4	protein_coding		1820		chr8	TogoVar
GIP_chr17_48953554_48973596	48965138	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02074.hp2 HG02258.hp2 others(15): Show HG01243.hp2 HG02074.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02622.hp2 HG02647.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03927.hp1 HG06807.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0019 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0003g0006	18	20	0.9000	25	c.87- others(38): Show c.87-659_87-658insTTTTTTTTTTTTTTTTTTTTTTTTT	GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	2/5			chr17	TogoVar
GJA10_chr6_89889469_89901120	89898079	T T	TCTTTCCT others(18): Show TCTTTCCTTTCCTTTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	382	0.0026	25	c.19 others(36): Show c.1979_*1980insCTTTCCTTTCCTTTCCTTTCCTTTC	GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding		1960		chr6	TogoVar
GJA10_chr6_89889469_89901120	89898084	T T	TCTTTCCT others(18): Show TCTTTCCTTTCCTTTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG00735.hp2 others(2): Show HG00558.hp2 HG00621.hp2 HG00735.hp2 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	5	275	0.0182	25	c.19 others(36): Show c.1984_*1985insCTTTCCTTTCCTTTCCTTTCCTTTC	GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding		1965		chr6	TogoVar
GJA10_chr6_89889469_89901120	89898126	T T	TTTCCCTT others(18): Show TTTCCCTTCCCTTCCCTTCCCTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	377	0.0027	25	c.20 others(36): Show c.2026_*2027insTTCCCTTCCCTTCCCTTCCCTTCCC	GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding		2007		chr6	TogoVar
GJA10_chr6_89889469_89901120	89900758	T T	TTATATAT others(18): Show TTATATATATATATATAAATATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	118	0.0085	25	c.46 others(36): Show c.4658_*4659insTATATATATATATATAAATATTATA	GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding		4639		chr6	TogoVar
GJA10_chr6_89889469_89901120	89900758	T T	TTTATATA others(18): Show TTTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	118	0.0085	25	c.46 others(36): Show c.4658_*4659insTTATATATATATATATATATATATA	GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding		4639		chr6	TogoVar
GJB2_chr13_20182470_20197938	20197464	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02970.hp2 HG02723.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0011	2	119	0.0168	25	c.-47 others(36): Show c.-4705_-4704insTTTTTTTTTTTTTTTTTTTTTTTTT	GJB2	ENSG00000165474.8	transcript	ENST00000382848.5	protein_coding		4527		chr13	TogoVar
GJB6_chr13_20216962_20237319	20218588	T T	TTTCCTTT others(18): Show TTTCCTTTCTTTCTTTCCTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	445	0.0022	25	c.41 others(36): Show c.4106_*4107insGAAGAAGAGGAAAGAAAGAAAGGAA	GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding		3373		chr13	TogoVar
GJB6_chr13_20216962_20237319	20218588	T T	TTTCCTTT others(18): Show TTTCCTTTCTTTCTTTCCTTCTTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01433.hp2 others(10): Show HG01257.hp1 HG01258.hp2 HG01433.hp2 HG01978.hp2 HG02083.hp2 HG02273.hp1 HG04228.hp2 NA18945.hp1 NA18955.hp2 NA18971.hp1 NA18998.hp1 NA19064.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0098 a0001c0001t0001g0154 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0181 a0001c0001t0001g0236 a0001c0001t0016g0303	13	457	0.0284	25	c.41 others(36): Show c.4106_*4107insGGAAAGAAGGAAAGAAAGAAAGGAA	GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding		3373		chr13	TogoVar
GK_chrX_30648423_30736462	30699273	G G	GTTATATA others(18): Show GTTATATATACATGTTATGTATAACA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	196	0.0051	25	c.748 others(42): Show c.748-1140_748-1139insTATATATACATGTTATGTATAACAT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	9/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLA_chrX_101392803_101412925	101407481	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	316	0.0032	25	c.194 others(40): Show c.194+228_194+229insCTCTCTCTCTCTCTCTCTCTCTCTC	GLA	ENSG00000102393.15	transcript	ENST00000218516.4	protein_coding	1/6			chrX	TogoVar
GLCCI1_chr7_7963796_8094080	7966733	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG01071.hp1 others(12): Show HG00140.hp1 HG00597.hp2 HG01071.hp1 HG01074.hp1 HG01255.hp1 HG02965.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp1 NA18956.hp2 NA18967.hp2 NA18973.hp1 NA18989.hp1 NA19075.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 a0001c0001t0030 a0001c0001t0045 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0247 others(12): Show a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0342 a0001c0001t0008g0304 a0001c0001t0010g0215 a0001c0001t0016g0309 a0001c0001t0018g0225 a0001c0001t0018g0237 a0001c0001t0018g0290 a0001c0001t0030g0286 a0001c0001t0045g0236 a0001c0002t0002g0154 a0001c0002t0005g0131	15	243	0.0617	25	c.-26 others(36): Show c.-2618_-2617insTTTTTTTTTTTTTTTTTTTTTTTTT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding		2062		chr7	TogoVar
GLCCI1_chr7_7963796_8094080	8023588	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02273.hp2 HG02056.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0252 a0001c0001t0001g0230 a0001c0001t0001g0252	2	76	0.0263	25	c.696 others(42): Show c.696+1023_696+1047dupTTTTTTTTTTTTTTTTTTTTTTTTT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLDC_chr9_6527467_6650729	6599720	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02896.hp1 NA18906.hp2 HG02280.hp1 HG02896.hp1 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0004 a0001c0005t0001 a0001c0005t0004	a0001c0005t0001g0233 a0001c0005t0001g0237 a0001c0005t0004g0244 a0001c0005t0001g0233 a0001c0005t0001g0237 a0001c0005t0004g0244	3	204	0.0147	25	c.115 others(44): Show c.1155+2388_1155+2389insTTTTTTTTTTTTTTTTTTTTTTTTT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	8/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6639668	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	118	0.0085	25	c.334 others(42): Show c.334+4945_334+4946insATATATATATATATATATATATATT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLG1_chr16_74442440_74612114	74479051	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp2 NA18960.hp2 HG00609.hp1 HG00673.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0027 a0001c0001t0001 a0001c0001t0002 a0001c0001t0027	a0001c0001t0001g0268 a0001c0001t0002g0293 a0001c0001t0027g0243 a0001c0001t0001g0268 a0001c0001t0002g0293 a0001c0001t0027g0243	3	13	0.2308	25	c.182 others(44): Show c.1827+1165_1827+1189dupTTTTTTTTTTTTTTTTTTTTTTTTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	11/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAGTATAT others(18): Show AAGTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01496.hp2 HG01517.hp2 others(15): Show HG00140.hp1 HG01496.hp2 HG01517.hp2 HG01981.hp2 HG02257.hp2 HG02523.hp2 HG02976.hp1 HG03209.hp2 HG03490.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG04228.hp1 NA18522.hp1 NA18939.hp2 NA18966.hp2 NA19062.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0024 a0001c0001t0026 a0001c0004t0001 a0001c0004t0018 a0001c0006t0001	a0001c0001t0001g0060 a0001c0001t0001g0318 a0001c0001t0002g0133 others(15): Show a0001c0001t0001g0060 a0001c0001t0001g0318 a0001c0001t0002g0133 a0001c0001t0002g0140 a0001c0001t0002g0153 a0001c0001t0005g0096 a0001c0001t0005g0145 a0001c0001t0024g0267 a0001c0001t0026g0248 a0001c0004t0001g0182 a0001c0004t0001g0199 a0001c0004t0001g0200 a0001c0004t0001g0207 a0001c0004t0001g0214 a0001c0004t0001g0306 a0001c0004t0001g0335 a0001c0004t0018g0336 a0001c0006t0001g0095	18	90	0.2000	25	c.775 others(42): Show c.775-1804_775-1803insATATATATATATATATATATATACT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542760	A A	AGGAAGGA others(18): Show AGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0009 a0001c0002t0004g0009	1	306	0.0033	25	c.439 others(44): Show c.439-10632_439-10608dupCTTCCTTCCTTCCTTCCTTCCTTCC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542762	G G	GAAGGAAG others(18): Show GAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0073 a0001c0003t0003g0073	1	303	0.0033	25	c.439 others(44): Show c.439-10634_439-10610dupTCCTTCCTTCCTTCCTTCCTTCCTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542764	A A	AGGAAGGA others(18): Show AGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0080 a0001c0002t0010g0081 a0001c0002t0010g0080 a0001c0002t0010g0081	2	339	0.0059	25	c.439 others(44): Show c.439-10636_439-10612dupCTTCCTTCCTTCCTTCCTTCCTTCC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar

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