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
F7_chr13_113100791_113125685	113108501	C C	CGTGGGTG others(96): Show CGTGGGTGTCCCGGGGGTCGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGA GGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGG GAGT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03831.hp1 HG03704.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	382	0.0052	103	c.65- others(118): Show c.65-2188_65-2187insTGGGTGTCCCGGGGGTCGTGGGTGTCCCGG GAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCG GGGGAGTGGGTGTCCCGGGAGTG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FAIM_chr3_138603771_138638376	138609533	A A	ACTCTCTC others(96): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTC TCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	324	0.0031	103	c.-17 others(118): Show c.-17+639_-17+640insTCTCTCTCTCCCTCTCTCCCTCTCTCCCTC TCTCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609543	T T	TCTCTCTC others(96): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTC TCTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	339	0.0029	103	c.-17 others(118): Show c.-17+639_-17+640insTCTCTCTCTCTCTCTCTCTCTCCCTCTCTC CCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609547	T T	TCTCTCTC others(96): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCTCTCCCTCCCTCTCCCTC TCTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0130 a0002c0005t0001g0130	1	275	0.0036	103	c.-17 others(118): Show c.-17+639_-17+640insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCCCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCCTCTCT CTCTCTCTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAM174B_chr15_92612448_92660775	92631162	A A	ACGTATTA others(96): Show ACGTATTACATATTACATATTATATTATATATTACGTATTACATATTACA TATTATATTATATATTACGTATTACATATTACATATTATATATTATATAT TACG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01515.hp1 HG03704.hp1 others(3): Show HG00408.hp1 HG01515.hp1 HG03704.hp1 HG04184.hp2 NA18956.hp2 NA19000.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0001 a0001c0001t0005 a0001c0001t0048 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0048 a0005c0012t0003	a0001c0001t0001g0052 a0001c0001t0001g0096 a0001c0001t0001g0098 others(3): Show a0001c0001t0001g0052 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0005g0073 a0001c0001t0048g0043 a0005c0012t0003g0380	6	290	0.0207	103	c.345 others(118): Show c.345-818_345-817insCGTAATATATAATATATAATATGTAATATG TAATACGTAATATATAATATAATATGTAATATGTAATACGTAATATATAA TATAATATGTAATATGTAATACG	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FARP1_chr13_98138094_98460176	98153519	T T	TTATATAT others(96): Show TTATATATATTATATAAAAATATGTATAAATATATATTTATATATATATT ATGTATAAATATATATTTATATATATATTATATATAAATATGTATAAATA TATA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	205	0.0049	103	c.-24 others(122): Show c.-24+10036_-24+10037insTATATAAAAATATGTATAAATATATA TTTATATATATATTATGTATAAATATATATTTATATATATATTATATATA AATATGTATAAATATATATATATATAT	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FBN2_chr5_128252909_128543245	128539958	T T	TAGATCAT others(96): Show TAGATCATATATGATCTATCATATATATCATATATCATATATATCATATA TATCATATATATCATATATATCATATATCATATATATCATATATCATATA TATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02896.hp2 HG02818.hp1 HG02896.hp2	a0002 a0002	a0002c0010 a0002c0065 a0002c0010 a0002c0065	a0002c0010t0008 a0002c0065t0011 a0002c0010t0008 a0002c0065t0011	a0002c0010t0008g0084 a0002c0065t0011g0083 a0002c0010t0008g0084 a0002c0065t0011g0083	2	226	0.0088	103	c.-23 others(114): Show c.-2356_-2355insGATATATATGATATATGATATATATGATATATGA TATATATGATATATATGATATATATGATATATATGATATATGATATATAT GATAGATCATATATGATCT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1714		chr5	TogoVar
FBXO47_chr17_38931432_38972403	38946593	T T	TATAAATA others(96): Show TATAAATATATAAATATATAAATAAAAATATATAAAAATATATACATATA TAAATATAAATATATAATATATAAATATATAAATATATAAATATAAATAT ATAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02738.hp1 NA18984.hp2 HG00544.hp1 HG02738.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0188 a0001c0001t0002g0222 a0001c0001t0002g0168 a0001c0001t0002g0188 a0001c0001t0002g0222	3	244	0.0123	103	c.617 others(120): Show c.617-1458_617-1457insTTATATATTTATATTTATATATTTATAT ATTTATATATTATATATTTATATTTATATATGTATATATTTTTATATATT TTTATTTATATATTTATATATTTAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946593	T T	TATAAATA others(96): Show TATAAATATATAAATATATGAATAAAAATATATAAAAATATATACATATA TAAATATAAATATATAATATATAAATATATAAATATATAAATATAAATAT ATAA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	242	0.0041	103	c.617 others(120): Show c.617-1458_617-1457insTTATATATTTATATTTATATATTTATAT ATTTATATATTATATATTTATATTTATATATGTATATATTTTTATATATT TTTATTCATATATTTATATATTTAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FGD6_chr12_95071749_95222467	95149172	T T	TATTATAT others(96): Show TATTATATAATATATATAGCATATATTATATATTATATAATATATATAGC ATATATATTATATATATTATATAATATATAGCATATATATATTATATAAT ATTA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01496.hp2 HG01106.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0008 a0001c0001t0013g0009 a0001c0001t0013g0008 a0001c0001t0013g0009	2	362	0.0055	103	c.268 others(122): Show c.2685+3638_2685+3639insTAATATTATATAATATATATATGCTA TATATTATATAATATATATAATATATATGCTATATATATTATATAATATA TAATATATGCTATATATATTATATAAT	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FGL1_chr8_17859389_17900524	17882814	A A	AATATATA others(96): Show AATATATAGTATATAATATATTAAACAATATATAATATATAGTATATAAT ATATTAAACAATATATAATATATATCATATATAATATATTAAATAATATA TAAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0224 a0003c0003t0001g0224	1	174	0.0057	103	c.64- others(116): Show c.64-636_64-635insATTATATATTATTTAATATATTATATATGATA TATATTATATATTGTTTAATATATTATATACTATATATTATATATTGTTT AATATATTATATACTATATAT	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
FGL1_chr8_17859389_17900524	17883105	A A	AATATAGA others(96): Show AATATAGAATATATATCATATATAATATATTAAATATAGAATATATATCA TATATAATATATTAAATATATAATATATATCATATATAATATATTAAATA ATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02559.hp1 HG02647.hp2 others(9): Show HG02083.hp1 HG02559.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG03041.hp1 HG03471.hp1 NA18906.hp1 NA18941.hp1 NA18981.hp2 NA18983.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0011c0014 a0003c0003 a0011c0014	a0003c0003t0001 a0011c0014t0001 a0003c0003t0001 a0011c0014t0001	a0003c0003t0001g0018 a0003c0003t0001g0040 a0003c0003t0001g0099 others(7): Show a0003c0003t0001g0018 a0003c0003t0001g0040 a0003c0003t0001g0099 a0003c0003t0001g0222 a0003c0003t0001g0242 a0003c0003t0001g0243 a0003c0003t0001g0244 a0003c0003t0001g0249 a0003c0003t0001g0250 a0011c0014t0001g0245	12	159	0.0755	103	c.64- others(116): Show c.64-927_64-926insATATTATTTAATATATTATATATGATATATAT TATATATTTAATATATTATATATGATATATATTCTATATTTAATATATTA TATATGATATATATTCTATAT	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
FGL1_chr8_17859389_17900524	17883105	A A	AATATAGA others(96): Show AATATAGAATATATATCATATATAATATATTAAATATATAATATATATCA TATATAATATATTAAATATATAATATATATCATATATAATATATTAAATA ATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01169.hp2 HG01261.hp2 others(1): Show HG00140.hp1 HG01169.hp2 HG01261.hp2 HG04115.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0229 a0003c0003t0001g0238 a0003c0003t0001g0239 others(1): Show a0003c0003t0001g0229 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0240	4	151	0.0265	103	c.64- others(116): Show c.64-927_64-926insATATTATTTAATATATTATATATGATATATAT TATATATTTAATATATTATATATGATATATATTATATATTTAATATATTA TATATGATATATATTCTATAT	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
FKBP2_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(96): Show GAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATATATA TATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	248	0.0040	103	c.-40 others(114): Show c.-4014_-4013insAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATAT ATATATATATATATATATA	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3971		chr11	TogoVar
FKBP2_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(96): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGATATATATATATATATATATATATATATATATA TATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	248	0.0040	103	c.-40 others(114): Show c.-4014_-4013insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATAT ATATATATATATATATATA	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3971		chr11	TogoVar
FN3K_chr17_82730615_82756196	82738947	T T	TATATATA others(96): Show TATATATATATATATATACGTGTATATATATATATACGTATATATATATA CGTATATATATACGTGTATATATATATATATACACGTGTATATATATATA TATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18964.hp1 HG01255.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0023 a0001c0001t0003 a0001c0001t0023	a0001c0001t0003g0003 a0001c0001t0023g0127 a0001c0001t0003g0003 a0001c0001t0023g0127	2	343	0.0058	103	c.293 others(118): Show c.293+307_293+308insATATATATATATATATACGTGTATATATAT ATATACGTATATATATATACGTATATATATACGTGTATATATATATATAT ACACGTGTATATATATATATATA	FN3K	ENSG00000167363.14	transcript	ENST00000300784.8	protein_coding	2/5			chr17	TogoVar
FOXP1_chr3_70949708_71588728	71435927	C C	CGGAGGGA others(96): Show CGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGG GAAGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGAA AAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp2 HG02897.hp1 others(1): Show HG02258.hp1 HG02717.hp2 HG02897.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 a0001c0001t0001 a0001c0001t0005 a0001c0001t0025	a0001c0001t0001g0020 a0001c0001t0001g0044 a0001c0001t0005g0021 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0044 a0001c0001t0005g0021 a0001c0001t0025g0014	4	93	0.0430	103	c.-16 others(124): Show c.-168+57498_-168+57499insTTTTTTCCTCCCTCCCTCCCTCCG TCCCTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTCCCTC CCTCCCTCCGTCCCTCCCTCCCTCCCTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FRAS1_chr4_78052323_78549269	78420484	C C	CAACATTA others(96): Show CAACATTAGTTCTATACCTGAAAAATTTAGAAACAACAGGCAAATCTGCA GCCCCTACAGCATTTATCACAAGCAGAGTGATAATTACAAATTCAGTTCT TAGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01071.hp1 others(9): Show HG00323.hp2 HG00738.hp1 HG01071.hp1 HG01099.hp1 HG02280.hp1 HG02738.hp1 HG03453.hp2 HG03471.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG04199.hp2	a0006 a0007 a0014 others(7): Show a0006 a0007 a0014 a0025 a0029 a0036 a0065 a0084 a0085 a0087	a0006c0016 a0007c0041 a0014c0046 others(8): Show a0006c0016 a0007c0041 a0014c0046 a0014c0055 a0025c0009 a0029c0035 a0036c0036 a0065c0123 a0084c0060 a0085c0093 a0087c0094	a0006c0016t0008 a0007c0041t0055 a0014c0046t0005 others(8): Show a0006c0016t0008 a0007c0041t0055 a0014c0046t0005 a0014c0055t0005 a0025c0009t0019 a0029c0035t0005 a0036c0036t0005 a0065c0123t0005 a0084c0060t0006 a0085c0093t0004 a0087c0094t0001	a0006c0016t0008g0111 a0006c0016t0008g0178 a0007c0041t0055g0009 others(9): Show a0006c0016t0008g0111 a0006c0016t0008g0178 a0007c0041t0055g0009 a0014c0046t0005g0045 a0014c0055t0005g0069 a0025c0009t0019g0008 a0029c0035t0005g0043 a0036c0036t0005g0025 a0065c0123t0005g0108 a0084c0060t0006g0038 a0085c0093t0004g0144 a0087c0094t0001g0110	12	176	0.0682	103	c.454 others(122): Show c.4541-1377_4541-1275dupACATTAGTTCTATACCTGAAAAATTT AGAAACAACAGGCAAATCTGCAGCCCCTACAGCATTTATCACAAGCAGAG TGATAATTACAAATTCAGTTCTTAGAA	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	33/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FREM3_chr4_143572302_143705675	143617665	G G	GGGTTTAA others(96): Show GGGTTTAAGCTAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0136 a0007c0008t0001g0136	1	257	0.0039	103	c.577 others(122): Show c.5779+3371_5779+3372insTGCAGTGAGCCGAGATCCCGCCACTG CACTCCAGCCTGGGCGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAACTAGCTTAAACC	FREM3	ENSG00000183090.5	transcript	ENST00000329798.5	protein_coding	5/7			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161783677	C C	CCCTTCCT others(96): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0030 a0002c0004t0001g0030	1	89	0.0112	103	c.410 others(120): Show c.410-7604_410-7603insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGG	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	4/15			chr4	TogoVar
FTHL17_chrX_31066233_31077041	31073106	T T	TCAAATAC others(96): Show TCAAATACTCCCCTGTTCCCTACACCCCCCACCCAACCCCACACCCCCCC CCCAACCTCACCCCCCCCCCCCCCCCCCCCCCACCTCCAAACTTCCCTAA CCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	334	0.0030	103	c.-11 others(114): Show c.-1154_-1153insGGGGTTAGGGAAGTTTGGAGGTGGGGGGGGGGGG GGGGGGGGGGTGAGGTTGGGGGGGGGGTGTGGGGTTGGGTGGGGGGTGTA GGGAACAGGGGAGTATTTG	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding		1066		chrX	TogoVar
GALNT18_chr11_11265877_11627005	11510712	G G	GCCCCCCC others(96): Show GCCCCCCCCCCCCCCGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	258	0.0039	103	c.236 others(122): Show c.236-61777_236-61776insTGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGCGGGGGGGGGGGGGG	GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding	1/10			chr11	TogoVar
GALNT9_chr12_132191372_132334589	132316990	A A	ACCCACAG others(96): Show ACCCACAGAGCACAGCCTGCACCCTACACCCCACAGAGCATGGTCCTATT CTACACCCCACAGAGCACAGCCTGCACCCTATGGAGCACGGTCCCATCCT ACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00609.hp1 others(36): Show HG00140.hp2 HG00408.hp1 HG00609.hp1 HG00673.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01243.hp1 HG01346.hp1 HG01361.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02109.hp2 HG02135.hp1 HG02165.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02895.hp2 HG02976.hp1 HG03017.hp2 HG03688.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18952.hp2 NA18953.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19012.hp1 NA19063.hp1 NA19080.hp1 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0018 a0001c0020 a0001c0022 a0001c0025 a0005c0033	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0011t0001 a0001c0012t0002 a0001c0013t0004 a0001c0014t0003 a0001c0017t0001 a0001c0018t0001 a0001c0020t0001 a0001c0022t0001 a0001c0025t0012 a0005c0033t0001	a0001c0001t0001g0033 a0001c0001t0001g0075 a0001c0001t0001g0111 others(36): Show a0001c0001t0001g0033 a0001c0001t0001g0075 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0008g0003 a0001c0002t0001g0004 a0001c0002t0001g0025 a0001c0002t0001g0129 a0001c0002t0001g0134 a0001c0003t0001g0123 a0001c0003t0001g0128 a0001c0004t0001g0076 a0001c0004t0001g0106 a0001c0004t0001g0121 a0001c0005t0001g0113 a0001c0011t0001g0116 a0001c0011t0001g0130 a0001c0012t0002g0180 a0001c0013t0004g0124 a0001c0014t0003g0074 a0001c0014t0003g0146 a0001c0017t0001g0148 a0001c0018t0001g0047 a0001c0020t0001g0115 a0001c0022t0001g0120 a0001c0025t0012g0048 a0005c0033t0001g0114	39	118	0.3305	103	c.238 others(122): Show c.238+11975_238+11976insGTGTAGGATGGGACCGTGCTCCATAG GGTGCAGGCTGTGCTCTGTGGGGTGTAGAATAGGACCATGCTCTGTGGGG TGTAGGGTGCAGGCTGTGCTCTGTGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132316990	A A	ACCCACAG others(96): Show ACCCACAGAGCACAGCCTGCACCCTACACCCCACGGAGCATGGTCCTATT CTACACCCCACAGAGCACAGCCTGCACCCTATGGAGCACGGTCCCATCCT ACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00673.hp2 others(60): Show HG00408.hp2 HG00423.hp2 HG00673.hp2 HG01070.hp1 HG01106.hp1 HG01175.hp2 HG01433.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 NA18747.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18961.hp1 NA18964.hp1 NA18971.hp2 NA18980.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp2 NA19067.hp1 NA19085.hp1 NA19091.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0015 a0001c0016 a0001c0019 a0001c0021 a0001c0027 a0001c0034 a0001c0036 a0001c0038 a0001c0039 a0001c0040 a0003c0037 a0006c0024	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(20): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0002t0013 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0007t0010 a0001c0011t0001 a0001c0015t0001 a0001c0016t0001 a0001c0019t0003 a0001c0021t0004 a0001c0027t0001 a0001c0034t0004 a0001c0036t0003 a0001c0038t0001 a0001c0039t0006 a0001c0040t0007 a0003c0037t0001 a0006c0024t0001	a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0023 others(60): Show a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0002t0001g0022 a0001c0002t0001g0053 a0001c0002t0001g0057 a0001c0002t0001g0063 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0105 a0001c0002t0001g0135 a0001c0002t0001g0141 a0001c0002t0001g0163 a0001c0002t0005g0066 a0001c0002t0013g0021 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0162 a0001c0004t0001g0016 a0001c0004t0001g0020 a0001c0004t0001g0056 a0001c0004t0001g0060 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0005t0001g0008 a0001c0005t0001g0018 a0001c0005t0001g0026 a0001c0006t0001g0013 a0001c0006t0001g0073 a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0007t0001g0015 a0001c0007t0001g0061 a0001c0007t0001g0138 a0001c0007t0001g0159 a0001c0007t0010g0108 a0001c0011t0001g0058 a0001c0011t0001g0065 a0001c0015t0001g0024 a0001c0015t0001g0067 a0001c0016t0001g0147 a0001c0019t0003g0145 a0001c0021t0004g0155 a0001c0027t0001g0082 a0001c0034t0004g0158 a0001c0036t0003g0055 a0001c0038t0001g0046 a0001c0039t0006g0001 a0001c0040t0007g0002 a0003c0037t0001g0010 a0006c0024t0001g0160	63	142	0.4437	103	c.238 others(122): Show c.238+11873_238+11975dupGTGTAGGATGGGACCGTGCTCCATAG GGTGCAGGCTGTGCTCTGTGGGGTGTAGAATAGGACCATGCTCCGTGGGG TGTAGGGTGCAGGCTGTGCTCTGTGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALR1_chr18_77244848_77282900	77259263	G G	GTGTTGGT others(96): Show GTGTTGGTGGTGGTCATGGTGGTGATGACGGTGGTGATGATGGTGGTCAT GGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTG GTGA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0247 a0001c0001t0039g0247	1	182	0.0055	103	c.732 others(120): Show c.732+3048_732+3049insGTGGTCATGGTGGTGATGACGGTGGTGA TGATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGT GGTCACAGTGGTGGTGATGTTGGTG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GATD1_chr11_762222_782487	763172	C C	CTGGGCGT others(96): Show CTGGGCGTCGGGGTTCAAGCTGGGCAGAGTTAAAACTTTGGTGAGACCCC AGGTCTCATTCACGTGCTGTCCAGCAAGTGGGGCCTGTTGAGGCCATCCC AGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01175.hp2 NA20805.hp1 HG00738.hp1 HG01175.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0053 a0001c0001t0001 a0001c0001t0053	a0001c0001t0001g0001 a0001c0001t0053g0116 a0001c0001t0001g0001 a0001c0001t0053g0116	3	428	0.0070	103	c.77 others(114): Show c.7724_*7725insCCCTGGGATGGCCTCAACAGGCCCCACTTGCTGG ACAGCACGTGAATGAGACCTGGGGTCTCACCAAAGTTTTAACTCTGCCCA GCTTGAACCCCGACGCCCA	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		4049		chr11	TogoVar
GDI1_chrX_154432154_154448467	154448153	C C	CGGAGGAG others(96): Show CGGAGGAGGAGGAAAAGAGAGAGATCTCTCTCAACAACAACAACGGAGGA GGAGGAAAAGAGAGAGATCTCTCTCAACAACAACAACGAGGAGGAGGAAA AGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	281	0.0036	103	c.54 others(114): Show c.5481_*5482insGGAGGAGGAGGAAAAGAGAGAGATCTCTCTCAAC AACAACAACGGAGGAGGAGGAAAAGAGAGAGATCTCTCTCAACAACAACA ACGAGGAGGAGGAAAAGAG	GDI1	ENSG00000203879.12	transcript	ENST00000447750.7	protein_coding		4687		chrX	TogoVar
GLT1D1_chr12_128848478_128989968	128879378	T T	TTCTTTCT others(96): Show TTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTC TTTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0043 a0003c0005t0004g0043	1	116	0.0086	103	c.217 others(120): Show c.217+3317_217+3318insCTTTCTTTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTTCTTTCT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GMEB2_chr20_63582605_63632101	63607435	C C	CCCACACC others(96): Show CCCACACCTCCATTTCTAGAAACATGCCCCTCTGACCCCACATCCATTTC TAGAAACATGTCCCTCTGACCCACACCTCCATTTCTAGAAACATGCCCCT CTGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0140 a0001c0003t0002g0140	1	328	0.0030	103	c.132 others(120): Show c.132-2596_132-2595insTCAGAGGGGCATGTTTCTAGAAATGGAG GTGTGGGTCAGAGGGACATGTTTCTAGAAATGGATGTGGGGTCAGAGGGG CATGTTTCTAGAAATGGAGGTGTGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63607952	A A	ACACCTCC others(96): Show ACACCTCCATTTCTAGAAACATGCCCCTCTGACCCCACATCCATTTCTAG AAACATGCCCCTCTGACCCACACATCCATTTCTAGAAACATGTCCCTCTG ACCC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03704.hp1 HG02083.hp1 HG03704.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0126 a0001c0003t0002g0149 a0001c0003t0002g0126 a0001c0003t0002g0149	2	283	0.0071	103	c.132 others(120): Show c.132-3113_132-3112insGGGTCAGAGGGACATGTTTCTAGAAATG GATGTGTGGGTCAGAGGGGCATGTTTCTAGAAATGGATGTGGGGTCAGAG GGGCATGTTTCTAGAAATGGAGGTG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608899	A A	ACCCACAC others(96): Show ACCCACACCTCCATTTCTAGAACATGTCCCTCTGACCTCACCTCCATTTC TAGAAACATGCCCCTCTGACCCCACCCTCCATTTCTAGAAATATGCCCCT GACC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0128 a0001c0003t0002g0128	1	247	0.0040	103	c.132 others(120): Show c.132-4060_132-4059insGGTCAGGGGCATATTTCTAGAAATGGAG GGTGGGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGAGGTCAGAGGGA CATGTTCTAGAAATGGAGGTGTGGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608967	A A	ACCCCACC others(96): Show ACCCCACCTCCATTTCTAGAAACATGCCCCTCTCACCCCACATCCATTTC TAGAAACATGTCCCTCTGACCCCACATCCATTTCTAGAAACATGCCCGTC TGAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03486.hp1 HG06807.hp2 others(1): Show HG00323.hp1 HG03486.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0014 a0001c0005 a0001c0014	a0001c0005t0005 a0001c0005t0010 a0001c0014t0010 a0001c0005t0005 a0001c0005t0010 a0001c0014t0010	a0001c0005t0005g0285 a0001c0005t0005g0286 a0001c0005t0010g0287 others(1): Show a0001c0005t0005g0285 a0001c0005t0005g0286 a0001c0005t0010g0287 a0001c0014t0010g0288	4	111	0.0360	103	c.132 others(120): Show c.132-4128_132-4127insGTCAGACGGGCATGTTTCTAGAAATGGA TGTGGGGTCAGAGGGACATGTTTCTAGAAATGGATGTGGGGTGAGAGGGG CATGTTTCTAGAAATGGAGGTGGGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609824	A A	ACACATCC others(96): Show ACACATCCATTTCTAGAAACATGCCCCTCTGACCCCACCTCCATTTCTAG AAACATGTCCCTCTGACCCACACCTCCATTTCTAGAAACATGTCCCTCTG ACCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp2 HG02896.hp1 others(2): Show HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0008 a0001c0005t0025 a0001c0005t0003 a0001c0005t0008 a0001c0005t0025	a0001c0005t0003g0107 a0001c0005t0008g0271 a0001c0005t0008g0272 others(2): Show a0001c0005t0003g0107 a0001c0005t0008g0271 a0001c0005t0008g0272 a0001c0005t0008g0274 a0001c0005t0025g0273	5	325	0.0154	103	c.132 others(120): Show c.132-4985_132-4984insGGGTCAGAGGGACATGTTTCTAGAAATG GAGGTGTGGGTCAGAGGGACATGTTTCTAGAAATGGAGGTGGGGTCAGAG GGGCATGTTTCTAGAAATGGATGTG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GNG13_chr16_793041_805734	795574	C C	CCCATGCC others(96): Show CCCATGCCCCCCCCGTGCTGCCCGTGTGGCTGTCCCCTCCCCCGTGCCCC CCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCGCCCCGC CCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	420	0.0024	103	c.31 others(114): Show c.3144_*3145insAGGGGCGGGGCGGGGCGGCACGGGGCCAGGGGCA CCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCCACACGGG CAGCACGGGGGGGGCATGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2466		chr16	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCCCCC others(96): Show GCCCCCCCCGTGCTGCCCGTGTGGCTGTCCCCTCCCCCGTGCCCCCCCCG TGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCGCCCCGCCCCTC CCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	243	0.0041	103	c.31 others(114): Show c.3138_*3139insAGGGGAGGGGCGGGGCGGGGCGGCACGGGGCCAG GGGCACCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCCAC ACGGGCAGCACGGGGGGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar
GNG8_chr19_46628953_46641202	46634404	T T	TCCCTCCC others(96): Show TCCCTCCCCTCGTCCTGGCCCCTCCCCTGTTCTGCCCCTCCCCTCGTCCT GGCCCCTCCTCCTGCCCTGCCCCTCCCCTCGTCCTGGCCCCTCCCCTGTT CTGC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	435	0.0023	103	c.84+ others(116): Show c.84+194_84+195insGCAGAACAGGGGAGGGGCCAGGACGAGGGGAG GGGCAGGGCAGGAGGAGGGGCCAGGACGAGGGGAGGGGCAGAACAGGGGA GGGGCCAGGACGAGGGGAGGG	GNG8	ENSG00000167414.5	transcript	ENST00000693335.1	protein_coding	2/2			chr19	TogoVar
GPATCH2_chr1_217421992_217636090	217524877	G G	GCGAGAGG others(96): Show GCGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGG GGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGG GAGA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	183	0.0055	103	c.109 others(122): Show c.1099-9989_1099-9988insTCTCCCCTCTCCCCTCTCCCCTCTCC CCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCC CTCTCCCCTCTCCCCTCTCCCCTCTCG	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPR137B_chr1_236137539_236213907	236186262	T T	TTATATAT others(96): Show TTATATATTATATATAATATATATAATATATAATATAAATAATATATAAT ATATATTATATATTATATATAATATATATAATATATAATATAAATAATAT ATAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG01167.hp1 others(25): Show HG00280.hp2 HG00733.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG02056.hp1 HG02300.hp2 HG02698.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp2 NA18964.hp2 NA18973.hp1 NA18979.hp2 NA19002.hp1 NA19063.hp2 NA19080.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0007t0001	a0001c0001t0001g0006 a0001c0001t0001g0037 a0001c0001t0001g0044 others(23): Show a0001c0001t0001g0006 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0341 a0001c0001t0003g0012 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0297 a0001c0001t0003g0306 a0001c0001t0005g0016 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0066 a0001c0001t0005g0070 a0001c0007t0001g0003	28	219	0.1279	103	c.966 others(120): Show c.966+2374_966+2375insTATATAATATATAATATAAATAATATAT AATATATATTATATATTATATATAATATATATAATATATAATATAAATAA TATATAATATATATTATATATAATA	GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
GRIK2_chr6_101388708_102075083	101761835	T T	TTTCCTTT others(96): Show TTTCCTTTCCTTCCTTCCCTTCCTTTCCTTTCCCCTCCCTTCCTTTCCTT CCTTCCTCCCTTCTTTTCTTTTCTTCCTTTCTTTCCTTTGTTTGTTTCTT TTCC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0072 a0001c0003t0008g0072	1	101	0.0099	103	c.952 others(122): Show c.952-37647_952-37545dupTTTTCTTTTCTTCCTTTCTTTCCTTT GTTTGTTTCTTTTCCTTCCTTTCCTTCCTTCCCTTCCTTTCCTTTCCCCT CCCTTCCTTTCCTTCCTTCCTCCCTTC	GRIK2	ENSG00000164418.22	transcript	ENST00000369134.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169692	A A	AATATATT others(96): Show AATATATTGTATATTATATAATATATTGTATATTGTATATTATATATAAT ATATTGTATATTATATATAATATATTGTATATTATATATAATATATTGTA TATT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0118 a0001c0001t0047g0118	1	377	0.0027	103	c.-34 others(118): Show c.-34-778_-34-777insATATATTGTATATTATATAATATATTGTAT ATTGTATATTATATATAATATATTGTATATTATATATAATATATTGTATA TTATATATAATATATTGTATATT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2			chr6	TogoVar
GTPBP6_chrX_299759_323796	323565	T T	TGTGTGTG others(96): Show TGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTC TGCCCTGTTCATAGAGACAGAATGAGGGCGTCCCCAGGTGGTGAGCTCAG GGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02735.hp2 HG00639.hp1 HG02735.hp2	a0005 a0006 a0005 a0006	a0005c0016 a0006c0009 a0005c0016 a0006c0009	a0005c0016t0001 a0006c0009t0001 a0005c0016t0001 a0006c0009t0001	a0005c0016t0001g0022 a0006c0009t0001g0015 a0005c0016t0001g0022 a0006c0009t0001g0015	2	146	0.0137	103	c.-47 others(114): Show c.-4779_-4778insGTCCCTGAGCTCACCACCTGGGGACGCCCTCATT CTGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACG GCTACACACACACACACAC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4770		chrX	TogoVar
GTPBP6_chrX_299759_323796	323690	G G	GTGTGTGT others(96): Show GTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCTGC CCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGA CGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0082 a0003c0004t0002g0082	1	125	0.0080	103	c.-49 others(114): Show c.-4904_-4903insAACGTCCCTGAGCTCACCACCTGGGGACGCCCTC ATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTG ACGGCTACACACACACACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4895		chrX	TogoVar
GTPBP6_chrX_299759_323796	323697	T T	TGTGTGTG others(96): Show TGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGATCCGTC TGCCCTGTTCATAGAGACGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAG GGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 NA18522.hp1 HG03195.hp2 NA18522.hp1	a0011 a0019 a0011 a0019	a0011c0025 a0019c0024 a0011c0025 a0019c0024	a0011c0025t0005 a0019c0024t0005 a0011c0025t0005 a0019c0024t0005	a0011c0025t0005g0077 a0019c0024t0005g0078 a0011c0025t0005g0077 a0019c0024t0005g0078	2	153	0.0131	103	c.-49 others(114): Show c.-4911_-4910insGTCCCTGAGCTCACCACCTGGGGACGCCCTCATT CCGTCTCTATGAACAGGGCAGACGGATCCCAGGAGCCCAGGAGATTGACG GCTACACACACACACACAC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4902		chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106709759	G G	GTTATATA others(96): Show GTTATATATTATATACACGTATAGAATATATAGTTATATATTATATACAC GTATAGAATATATAGTTATATATTATATACACGTATAGAATATATAGTTA TATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01243.hp1 HG01952.hp2 others(6): Show HG01169.hp2 HG01243.hp1 HG01952.hp2 HG02273.hp1 HG02622.hp2 HG02886.hp2 HG02896.hp2 NA18522.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0071 a0001c0002t0004 a0001c0003t0003	a0001c0001t0003g0088 a0001c0001t0004g0009 a0001c0001t0004g0069 others(6): Show a0001c0001t0003g0088 a0001c0001t0004g0009 a0001c0001t0004g0069 a0001c0001t0004g0121 a0001c0001t0007g0164 a0001c0001t0071g0082 a0001c0002t0004g0182 a0001c0002t0004g0184 a0001c0003t0003g0247	9	128	0.0703	103	c.183 others(122): Show c.1837-1094_1837-1093insTATATAACTATATATTCTATACGTGT ATATAATATATAACTATATATTCTATACGTGTATATAATATATAACTATA TATTCTATACGTGTATATAATATATAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HGSNAT_chr8_43135464_43207855	43179692	C C	CGGCTGGC others(96): Show CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGC GGCT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	232	0.0043	103	c.101 others(122): Show c.1012+1466_1012+1467insGGGCGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGATGGGGCGGCTGGCTGGCC	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HIGD1C_chr12_50947544_50975607	50948866	G G	GGGGGGAG others(96): Show GGGGGGAGGGGGGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAG GGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	363	0.0028	103	c.-39 others(114): Show c.-3913_-3912insGGGGGAGGGGGGGGGAGGGGAGGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGAGG GGGAGGGGAGGGGAGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3677		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948883	A A	AGGGGAGG others(96): Show AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	366	0.0027	103	c.-38 others(114): Show c.-3896_-3895insGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAG	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3660		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948889	G G	GGGGAGGG others(96): Show GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0042 a0001c0002t0002g0042	1	296	0.0034	103	c.-38 others(114): Show c.-3890_-3889insGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG GAGGGGGAGGGGAGGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3654		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948917	G G	GGGGGGAG others(96): Show GGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0155 a0001c0001t0001g0165	2	210	0.0095	103	c.-38 others(114): Show c.-3862_-3861insGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3626		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948931	G G	GGGAGGGG others(96): Show GGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG AGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19087.hp1 NA19072.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0097 a0001c0002t0001g0019 a0001c0002t0001g0097	2	219	0.0091	103	c.-38 others(114): Show c.-3848_-3847insGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGAGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3612		chr12	TogoVar

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