Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(203): Show ATATATATAGTATATATATATAGTATATATATAGTATATATATAGTATAT ATATAGTATATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTA TATATATATAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0142 a0001c0001t0024g0142	1	248	0.0040	210	c.355 others(229): Show c.355-25620_355-25619insGTATATATATATAGTATATATATAGT ATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATATAGTATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATATAG TGTATATATATAGTATATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
EFNA2_chr19_1280873_1306431	1300496	G G	GCTCCCCT others(203): Show GCTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAACACAGCCGCTCCCCT CTGCTCTGCACCCCACTCGTGGGGGAACACAGCCGCTCCCCTCTGCTCTG CACCCCACTCGTGGGGGAACACAGCCTCTCCCCTCTGCTCTGCACCCCAC TCGTGGGGGAACACAGCCGCTCCCCTCTGCTCTGCACCCCACTCGTGGGG GAACACAGCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0081 a0001c0004t0081	a0001c0004t0081g0126 a0001c0004t0081g0126	1	290	0.0034	210	c.63 others(219): Show c.633_*634insCGCTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAA CACAGCCTCTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAACACAGCCG CTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAACACAGCCTCTCCCCTC TGCTCTGCACCCCACTCGTGGGGGAACACAGCCGCTCCCCTCTGCTCTGC ACCCCACTCGTGGGGGAACACAGC	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding	4/4	634	INFO_REALIGN_3_PRIME	chr19	TogoVar
EFNA2_chr19_1280873_1306431	1300496	G G	GCTCCCCT others(203): Show GCTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAACACAGCCGCTCCCCT CTGCTCTGCACCCCACTCGTGGGGGAACACAGCCTCTCCCCTCTGCTCTG CACCCCACTCGTGGGGGAACACAGCCTCTCCCCTCTGCTCTGCACCCCAC TCGTGGGGGAACACAGCCGCTCCCCTCTGCTCTGCACCCCACTCGTGGGG GAACACAGCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02965.hp1 HG02723.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0047 a0001c0001t0037 a0001c0001t0047	a0001c0001t0037g0039 a0001c0001t0047g0137 a0001c0001t0037g0039 a0001c0001t0047g0137	2	291	0.0069	210	c.63 others(219): Show c.633_*634insCTCTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAA CACAGCCTCTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAACACAGCCG CTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAACACAGCCTCTCCCCTC TGCTCTGCACCCCACTCGTGGGGGAACACAGCCGCTCCCCTCTGCTCTGC ACCCCACTCGTGGGGGAACACAGC	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding	4/4	634	INFO_REALIGN_3_PRIME	chr19	TogoVar
EHMT1_chr9_137614005_137841127	137781182	G G	GGACGTGT others(203): Show GGACGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGAGACGTGT GGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGACGA CGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGA CGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGT GACGACGCCGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	74	0.0135	210	c.227 others(229): Show c.2276-1097_2276-1096insTGACGCCGGGACGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACG TGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGA CGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCG AGACGTGTGGTGACGACGCCGAGACGTGTGGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781182	G G	GGACGTGT others(203): Show GGACGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGGGACGTGT GGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGA CGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGA CGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGT GACGACGCCGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	74	0.0135	210	c.227 others(229): Show c.2276-1097_2276-1096insTGACGCCGGGACGTGTGGTGATGACG CCGGGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACG TGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGA CGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCG AGACGTGTGGTGACGACGCCGAGACGTGTGGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781182	G G	GGACGTGT others(203): Show GGACGTGTGGTGATGACGCCGGGATGTGTGGTGATGACGCCGAGACGTGT GGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGA CGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGA CGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGT GACGACGCCGA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01346.hp1 HG02293.hp2 others(2): Show HG01256.hp2 HG01346.hp1 HG02293.hp2 HG03490.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0104 a0001c0001t0001g0162 others(2): Show a0001c0001t0001g0047 a0001c0001t0001g0104 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164	5	78	0.0641	210	c.227 others(229): Show c.2276-1097_2276-1096insTGACGCCGGGATGTGTGGTGATGACG CCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACG TGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGA CGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCG AGACGTGTGGTGACGACGCCGAGACGTGTGGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781182	G G	GGACGTGT others(203): Show GGACGTGTGGTGATGACGCCGGGATGTGTGGTGATGACGCCGAGACGTGT GGTGATGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGA CGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGA CGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGT GACGACGCCGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02735.hp2 NA18979.hp1 HG02165.hp2 HG02735.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0001g0068 a0001c0001t0001g0098 a0001c0001t0001g0110	3	76	0.0395	210	c.227 others(229): Show c.2276-1097_2276-1096insTGACGCCGGGATGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGACGACGCCGAGACG TGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGA CGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCG AGACGTGTGGTGACGACGCCGAGACGTGTGGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781182	G G	GGACGTGT others(203): Show GGACGTGTGGTGATGACGCCGGGATGTGTGGTGATGACGCCGAGACGTGT GGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGACGA CGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGA CGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGT GACGACGCCGA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03017.hp2 HG01943.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0161 a0001c0001t0001g0119 a0001c0001t0001g0161	2	75	0.0267	210	c.227 others(229): Show c.2276-1097_2276-1096insTGACGCCGGGATGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACG TGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGA CGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCG AGACGTGTGGTGACGACGCCGAGACGTGTGGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF4G3_chr1_20801479_21181897	21180050	A A	ATATTACA others(203): Show ATATTACATAATATATTACATATATTATGTAATATATGTTATATATTACA TATAATATATTATATGTAATATATAATATATTATATATTATATATTATAC ATAATATATAATATATAATATATAATATATATATTATGTATAATATATAT AATATATTATACATAATATATAATATATATTACGTAATATATTACATATA TTATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(81): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00673.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01168.hp1 HG01175.hp2 HG01261.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02055.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp2 NA18939.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18982.hp2 NA18988.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19056.hp1 NA19060.hp2 NA19064.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA20805.hp2 NA20905.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0008	a0001c0001 a0003c0005 a0005c0008 others(2): Show a0001c0001 a0003c0005 a0005c0008 a0006c0010 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025 a0003c0005t0001 a0005c0008t0001 a0006c0010t0001 a0008c0007t0001	a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 others(81): Show a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0002g0019 a0001c0001t0003g0236 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0148 a0001c0001t0006g0157 a0001c0001t0006g0181 a0001c0001t0006g0182 a0001c0001t0008g0301 a0001c0001t0008g0303 a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0010g0191 a0001c0001t0025g0302 a0003c0005t0001g0119 a0003c0005t0001g0141 a0005c0008t0001g0172 a0006c0010t0001g0103 a0008c0007t0001g0179	84	221	0.3801	210	c.-37 others(221): Show c.-3785_-3784insATTATATATAATATATGTAATATATTACGTAATA TATATTATATATTATGTATAATATATTATATATATTATACATAATATATA TATTATATATTATATATTATATATTATGTATAATATATAATATATAATAT ATTATATATTACATATAATATATTATATGTAATATATAACATATATTACA TAATATATGTAATATATTATGTAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3154		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180050	A A	ATATTACA others(203): Show ATATTACATAATATATTACATATATTATGTAATATATGTTATATATTACA TATAATATATTATATGTAATATATAATATATTATATATTATATATTATAC ATAATATATAATATATAATATATAATATATATATTATGTATAATATATAT TATATATTATACATAATATATAATATATATTACGTAATATATTACATATA TTATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG01361.hp1 others(42): Show HG00323.hp2 HG00544.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG02004.hp2 HG02040.hp1 HG02132.hp2 HG02135.hp1 HG02451.hp2 HG02523.hp2 HG02698.hp1 HG02723.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18939.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18975.hp1 NA18980.hp2 NA18987.hp1 NA19000.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016	a0001c0001t0001g0106 a0001c0001t0003g0235 a0001c0001t0003g0238 others(42): Show a0001c0001t0001g0106 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0269 a0001c0001t0003g0273 a0001c0001t0003g0278 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0290 a0001c0001t0005g0292 a0001c0001t0012g0296 a0001c0001t0015g0308 a0001c0001t0015g0309 a0001c0001t0016g0006	45	182	0.2473	210	c.-37 others(221): Show c.-3785_-3784insATTATATATAATATATGTAATATATTACGTAATA TATATTATATATTATGTATAATATATAATATATATTATACATAATATATA TATTATATATTATATATTATATATTATGTATAATATATAATATATAATAT ATTATATATTACATATAATATATTATATGTAATATATAACATATATTACA TAATATATGTAATATATTATGTAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3154		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180050	A A	ATATTACA others(203): Show ATATTACATAATATATTACATATATTATGTAATATATGTTATATATTACA TATAATATATTATATGTAATATATAATATATTATATATTATATATTATAC ATAATATATAATATATAATATATAATATATATATTATGTATAATATATAT TATATATTATACATAATATATAATATATATTATGTAATATATTACATATA TTATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0285 a0001c0001t0005g0285	1	138	0.0072	210	c.-37 others(221): Show c.-3785_-3784insATTATATATAATATATGTAATATATTACATAATA TATATTATATATTATGTATAATATATAATATATATTATACATAATATATA TATTATATATTATATATTATATATTATGTATAATATATAATATATAATAT ATTATATATTACATATAATATATTATATGTAATATATAACATATATTACA TAATATATGTAATATATTATGTAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3154		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180050	A A	ATATTACA others(203): Show ATATTACATAATATATTACATATATTATGTAATATATGTTATATATTACA TATAATATATTATATGTAATATATAATATATTATATATTATATATTATAC ATAATATATAATATATAATATATAATATATATATTATGTATTATATATAT AATATATTATACATAATATATAATATATATTATGTAATATATTACATATA TTATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	138	0.0072	210	c.-37 others(221): Show c.-3785_-3784insATTATATATAATATATGTAATATATTACATAATA TATATTATATATTATGTATAATATATTATATATATAATACATAATATATA TATTATATATTATATATTATATATTATGTATAATATATAATATATAATAT ATTATATATTACATATAATATATTATATGTAATATATAACATATATTACA TAATATATGTAATATATTATGTAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3154		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180064	T T	TATATTAC others(203): Show TATATTACATATATTATGTAATATATGTTATATATTACATATAATATATT ATATGTAATATATAATATTATATATTATATATTATACATAATATATAATA TATAATATATAATATATATATTATGTATAATATATATATAATATATTATA CATAATATATAATATATATTATGTAATATATTACATATATTATATATAAT ATATATACGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	266	0.0038	210	c.-37 others(221): Show c.-3799_-3798insTACGTATATATATTATATATAATATATGTAATAT ATTACATAATATATATTATATATTATGTATAATATATTATATATATATTA TACATAATATATATATTATATATTATATATTATATATTATGTATAATATA TAATATATAATATTATATATTACATATAATATATTATATGTAATATATAA CATATATTACATAATATATGTAATAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3168		chr1	TogoVar
ELL_chr19_18437663_18527070	18442182	C C	CCTAACAC others(203): Show CCTAACACATACCACACCCACACCACACACCCACACACACCACACCCACC CCAACACACACCACACAACCCACACTGCACACACCCAACACACCACCCCT CACACCACACACCACACACACCCACCACCAACACACACCACACCCACACC ACACATAAACCACACCCACACCCAACACACATACCACATCCACACATCCC AACACACCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	242	0.0041	210	c.25 others(221): Show c.2569_*2570insTGTGGTGTGTTGGGATGTGTGGATGTGGTATGTG TGTTGGGTGTGGGTGTGGTTTATGTGTGGTGTGGGTGTGGTGTGTGTTGG TGGTGGGTGTGTGTGGTGTGTGGTGTGAGGGGTGGTGTGTTGGGTGTGTG CAGTGTGGGTTGTGTGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTG TGTGGTGTGGGTGTGGTATGTGTTAG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding		480		chr19	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(203): Show GATATAACATATGCTATATATCATATATATGATATATAACATATGTTATA TATGATATATATGATATATAACATATGTTATATATGATATATATGATATA TAACATATGTTATATATGATATATAACATATATATGATATATGATATATA ACATATGTTATATATATGATATATATGTTATATGTCATATACAACATATG CTATATACGAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	56	0.0179	210	c.221 others(229): Show c.221+21529_221+21530insATCGTATATAGCATATGTTGTATATG ACATATAACATATATATCATATATATAACATATGTTATATATCATATATC ATATATATGTTATATATCATATATAACATATGTTATATATCATATATATC ATATATAACATATGTTATATATCATATATATCATATATAACATATGTTAT ATATCATATATATGATATATAGCATATGTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(203): Show GATATAACATATGCTATATATCATATATATGATATATAACATATGTTATA TATGATATATATGATATATAACATATGTTATATATGATATATATGATATA TAGCATATGTTATATATGATATATAACATATATATGATATATGATATATA ACATATGTTATATATATGATATATATGTTATATGTCATATACAACATATG CTATATACGAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00735.hp2 others(47): Show HG00558.hp2 HG00597.hp1 HG00735.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01981.hp1 HG02040.hp1 HG02129.hp2 HG02132.hp2 HG02300.hp2 HG02523.hp1 HG03017.hp1 HG03831.hp1 HG03942.hp2 NA18612.hp1 NA18941.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18982.hp2 NA18984.hp1 NA18992.hp1 NA18999.hp1 NA19003.hp1 NA19004.hp2 NA19011.hp1 NA19012.hp1 NA19058.hp1 NA19060.hp1 NA19067.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0018 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0059	a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0124 others(47): Show a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0147 a0001c0001t0001g0176 a0001c0001t0001g0213 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0289 a0001c0001t0002g0033 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0076 a0001c0001t0002g0141 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0175 a0001c0001t0002g0187 a0001c0001t0002g0238 a0001c0001t0002g0244 a0001c0001t0002g0272 a0001c0001t0002g0286 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0316 a0001c0001t0003g0193 a0001c0001t0003g0198 a0001c0001t0003g0294 a0001c0001t0004g0197 a0001c0001t0004g0321 a0001c0001t0005g0194 a0001c0001t0016g0112 a0001c0001t0016g0114 a0001c0001t0016g0164 a0001c0001t0018g0123 a0001c0001t0018g0229 a0001c0001t0018g0328 a0001c0001t0052g0235 a0001c0001t0053g0282 a0001c0001t0054g0064 a0001c0001t0055g0300 a0001c0001t0059g0116	50	105	0.4762	210	c.221 others(229): Show c.221+21529_221+21530insATCGTATATAGCATATGTTGTATATG ACATATAACATATATATCATATATATAACATATGTTATATATCATATATC ATATATATGTTATATATCATATATAACATATGCTATATATCATATATATC ATATATAACATATGTTATATATCATATATATCATATATAACATATGTTAT ATATCATATATATGATATATAGCATATGTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(203): Show GATATAACATATGCTATATATCATATATATGATATATAACATATGTTATA TATGATATATATGATATATAACATATGTTATATATGATATATATGATATA TAGCGTATGTTATATATGATATATAACATATATATGATATATGATATATA ACATATGTTATATATATGATATATATGTTATATGTCATATACAACATATG CTATATACGAT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0191 a0001c0001t0051g0191	1	56	0.0179	210	c.221 others(229): Show c.221+21529_221+21530insATCGTATATAGCATATGTTGTATATG ACATATAACATATATATCATATATATAACATATGTTATATATCATATATC ATATATATGTTATATATCATATATAACATACGCTATATATCATATATATC ATATATAACATATGTTATATATCATATATATCATATATAACATATGTTAT ATATCATATATATGATATATAGCATATGTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
EML1_chr14_99788413_99947060	99927949	T T	TGGTGGTG others(203): Show TGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGATGGTGGTGGTGGTGG AGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0149 a0001c0004t0003g0149	1	276	0.0036	210	c.190 others(229): Show c.1909+7077_1909+7078insTGGAGGTGGTGGTGGTGGTGGTGGTG GTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGG TGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENTREP1_chr9_69320215_69397456	69367816	T T	TATATATA others(203): Show TATATATAAATATATATATACACATATATATAAATATATATACACACATA TATATAAATATATATACACACATATATATAAATATATATATACACATATA TATAAATATATATATACACATATATATAAAAATATATATATACATATATA AATATATATATACACATATATATAAATATATATATACACATATATAAATA TATATACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02155.hp2 HG02273.hp1 others(2): Show HG00423.hp1 HG02155.hp2 HG02273.hp1 NA18954.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0248 a0001c0001t0003g0250 others(2): Show a0001c0001t0003g0232 a0001c0001t0003g0248 a0001c0001t0003g0250 a0001c0001t0003g0254 a0001c0001t0003g0280	5	337	0.0148	210	c.472 others(227): Show c.472-3652_472-3651insAATATATATACACACATATATATAAATA TATATACACACATATATATAAATATATATATACACATATATATAAATATA TATATACACATATATATAAAAATATATATATACATATATAAATATATATA TACACATATATATAAATATATATATACACATATATAAATATATATACACA CATATATAAATATATATATACACATATATATA	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29529214	A A	AGGGCGTG others(203): Show AGGGCGTGGAGGGGTGTGTGAGGGTGTGGAGGGGTGGGGGCGTGGAGGGG TGTGGGGGGCGTGGAGGGATGTGGGGGGGCGTGGAGGGGTGTGGGAGGCG TGGAGGGGAGTGGGGGGGAGTGGAGGGGCATGTGGGGGCATGGGGGACGT GGGAGGCATGGAGGGGTGTGGGGGGGCGTGGAGGGGTGTGGGGGGGCGTG GAGGGGTGTGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	5	0.2000	210	c.219 others(229): Show c.219+41290_219+41291insCCACACCCCTCCACGCCCCCCCACAC CCCTCCACGCCCCCCCACACCCCTCCATGCCTCCCACGTCCCCCATGCCC CCACATGCCCCTCCACTCCCCCCCACTCCCCTCCACGCCTCCCACACCCC TCCACGCCCCCCCACATCCCTCCACGCCCCCCACACCCCTCCACGCCCCC ACCCCTCCACACCCTCACACACCCCTCCACGCCC	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ERC1_chr12_986223_1500931	1122642	T T	TATCTGTG others(203): Show TATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTG TCTATTGATATATCTGTATATATCTATCTAAATCTCTATCTCTATCTCTA TCTGTGCCTATTGATATATCTGTATATATCTATCTCTATCTCTATCTCTA TCTCTATCTCTATCTCTATCTCTATCTGTGCCTATTGATATATCTGTATA TATCTATCTAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	42	0.0238	210	c.156 others(229): Show c.1569+6613_1569+6614insGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTCTATCTGTGTCTATTGATATATCTGTATATATCTATCTAA ATCTCTATCTCTATCTCTATCTGTGCCTATTGATATATCTGTATATATCT ATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGC CTATTGATATATCTGTATATATCTATCTAAATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERFL_chr19_41902704_41933449	41914629	G G	GTCTCTCC others(203): Show GTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCAT CTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCA CCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCT TCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTC CCCTTCCACCA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	314	0.0032	210	c.-13 others(227): Show c.-13-1698_-13-1697insTGGTGGAAGGGGAGGGAGAGACAGAGAT GGTGGAAGGGGAGGGAGAGACAGAGATGGTGGAAGGGGAGGGAGAGACAG AGATGGTGGAAGGGGAGGGAGAGACAGAGATGGTGGAAGGGGAGGGAGAG ACAGAGATGGTGGAAGGGGAGGGAGAGACAGAGATGGTGGAAGGGGAGGG AGAGACAGAGATGGTGGAAGGGGAGGGAGAGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERICH1_chr8_659200_736224	696434	A A	ACTCGCTC others(203): Show ACTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCG CTCGCTCCTCTCACCCTCTCTCCCTCTCCTTCCTCCCCATCAGCCTGCGC TCGCTCCTCACCCTCCACTCTTCTCCTTCTCCACTCCTCTCCTTCCTCCC CATCAGCCTGCGCTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCC ATCAGCCTGCG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	209	0.0048	210	c.170 others(227): Show c.170-3823_170-3822insCGCAGGCTGATGGGGAGGAAGGAGAGGA GTGGAGGGTGAGAGGAGCGAGCGCAGGCTGATGGGGAGGAAGGAGAGGAG TGGAGAAGGAGAAGAGTGGAGGGTGAGGAGCGAGCGCAGGCTGATGGGGA GGAAGGAGAGGGAGAGAGGGTGAGAGGAGCGAGCGCAGGCTGATGGGGAG GAAGGAGAGGAGTGGAGGGTGAGAGGAGCGAG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	696643	T T	TCCTCTCC others(203): Show TCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCACCCTCCACTCT TCTCCTTCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCT CTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTC TCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCT CACCCTCTCTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02809.hp1 HG03139.hp2 HG01934.hp2 HG02809.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0078 a0001c0001t0001g0150 a0001c0001t0002g0294 a0001c0001t0001g0078 a0001c0001t0001g0150 a0001c0001t0002g0294	3	367	0.0082	210	c.170 others(227): Show c.170-4241_170-4032dupGAGAGAGGGTGAGAGGAGCGAGCGCAGG CTGATGGGGAGGAAGGAGAGGAGTGGAGGGTGAGAGGAGCGAGCGCAGGC TGATGGGGAGGAAGGAGAGGAGTGGAGGGTGAGAGGAGCGAGCGCAGGCT GATGGGGAGGAAGGAGAGGAGTGGAGAAGGAGAAGAGTGGAGGGTGAGGA GCGAGCGCAGGCTGATGGGGAGGAAGGAGAGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ESPNL_chr2_238095340_238138287	238098619	G G	GGGAACGC others(203): Show GGGAACGCCCACATAGGACCGCCCACATGGGACCGCCCACATGGGAACGC CCACATAGGACCGCCCACATGGGACCGCCCACATGGGAACGCCCACATAG GACCGCCCACATGGGAACGCCCACATAGGACCGCCCACATGGGACCGCCC ACATGGGAACGCCCACATAGGACCGCCCACATGGGACCGCCCACATGGGA ACGCCCACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0066 a0002c0066	a0002c0066t0007 a0002c0066t0007	a0002c0066t0007g0160 a0002c0066t0007g0160	1	361	0.0028	210	c.-18 others(221): Show c.-1801_-1800insGGAACGCCCACATAGGACCGCCCACATGGGACCG CCCACATGGGAACGCCCACATAGGACCGCCCACATGGGACCGCCCACATG GGAACGCCCACATAGGACCGCCCACATGGGAACGCCCACATAGGACCGCC CACATGGGACCGCCCACATGGGAACGCCCACATAGGACCGCCCACATGGG ACCGCCCACATGGGAACGCCCACATA	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1720		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098626	C C	CCCACATA others(203): Show CCCACATAGAACCGTCCACATAGGACCGCCCACATAGAACCGCCCACATG GGAACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGGGAACGCC CACATAGGACCGCCCACATAGGACCGCCCACATAGAACCGCCCACATGGG AACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGGGACCGCCCA CATAGAACCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0005 a0004c0017t0005	a0004c0017t0005g0015 a0004c0017t0005g0015	2	380	0.0053	210	c.-17 others(221): Show c.-1794_-1793insCCACATAGAACCGTCCACATAGGACCGCCCACAT AGAACCGCCCACATGGGAACGCCCACATAGGACCGCCCACATAGGACCGC CCACATGGGAACGCCCACATAGGACCGCCCACATAGGACCGCCCACATAG AACCGCCCACATGGGAACGCCCACATAGGACCGCCCACATAGGACCGCCC ACATGGGACCGCCCACATAGAACCGT	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1713		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098626	C C	CCCACATA others(203): Show CCCACATAGGACCGCCCACATGGGACCGCCCACATAGGACCGCCCACATA GAACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATGGGAACGCC CACATAGGACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATAGA ACCGCCCACATGGGACCGCCCACATGGGAACGCCCACATGGGAACGCCCA CATGGGACCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02622.hp2 others(6): Show HG02055.hp1 HG02451.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02897.hp1 HG03098.hp2 HG03225.hp2 HG03516.hp2	a0002 a0006 a0008 others(1): Show a0002 a0006 a0008 a0033	a0002c0004 a0006c0006 a0008c0023 others(1): Show a0002c0004 a0006c0006 a0008c0023 a0033c0055	a0002c0004t0007 a0006c0006t0003 a0008c0023t0010 others(1): Show a0002c0004t0007 a0006c0006t0003 a0008c0023t0010 a0033c0055t0003	a0002c0004t0007g0122 a0006c0006t0003g0121 a0006c0006t0003g0123 others(6): Show a0002c0004t0007g0122 a0006c0006t0003g0121 a0006c0006t0003g0123 a0006c0006t0003g0125 a0006c0006t0003g0126 a0006c0006t0003g0127 a0008c0023t0010g0119 a0008c0023t0010g0159 a0033c0055t0003g0120	9	387	0.0233	210	c.-17 others(221): Show c.-1794_-1793insCCACATAGGACCGCCCACATGGGACCGCCCACAT AGGACCGCCCACATAGAACCGCCCACATAGGACCGCCCACATGGGACCGC CCACATGGGAACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGG GACCGCCCACATAGAACCGCCCACATGGGACCGCCCACATGGGAACGCCC ACATGGGAACGCCCACATGGGACCGT	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1713		chr2	TogoVar
ESYT2_chr7_158725997_158834509	158804054	T T	TCGAGAAG others(203): Show TCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGG CGAGTGACAAACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCA AACCGCCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGCCGAGAAGGG TGAGGCGCGCGACAAACCCAAACCGCCGAGAAGGGTGAGGCGCGCGACAA ACCCAAACCGC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0146 a0001c0001t0026g0146	1	259	0.0039	210	c.331 others(227): Show c.331-4983_331-4982insGCGGTTTGGGTTTGTCGCGCGCCTCACC CTTCTCGGCGGTTTGGGTTTGTCGCGCGCCTCACCCTTCTCGGCGGTTTG GGTTTGTCGCGCGCCTCACCCTTCTCGGCGGTTTGGGTTTGTCGCGCGCC TCACCCTTCTCGACGGTTTGGGTTTGTCACTCGCCTCACCCTTCTCGACG GTTTGGGTTTGTCGCGCGCCTCACCCTTCTCG	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158804054	T T	TCGAGAAG others(203): Show TCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGG CGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGGCGAGCGACAAACCCA AACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGCCGAGAAGGG TGAGGCGCGCGACAAACCCAAACCGCCGAGAAGGGTGAGGCGCGCGACAA ACCCAAACCGC	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18949.hp2 NA18960.hp1 others(10): Show HG01358.hp1 NA18949.hp2 NA18960.hp1 NA18966.hp1 NA18983.hp1 NA18985.hp1 NA18992.hp1 NA19056.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19074.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0014 a0002c0002t0002g0025 a0002c0002t0002g0027 others(10): Show a0002c0002t0002g0014 a0002c0002t0002g0025 a0002c0002t0002g0027 a0002c0002t0002g0048 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0063 a0002c0002t0002g0074 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0097	13	271	0.0480	210	c.331 others(227): Show c.331-4983_331-4982insGCGGTTTGGGTTTGTCGCGCGCCTCACC CTTCTCGGCGGTTTGGGTTTGTCGCGCGCCTCACCCTTCTCGGCGGTTTG GGTTTGTCGCGCGCCTCACCCTTCTCGACGGTTTGGGTTTGTCGCTCGCC TCACCCTTCTCGACGGTTTGGGTTTGTCGCGCGCCTCACCCTTCTCGACG GTTTGGGTTTGTCGCGCGCCTCACCCTTCTCG	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
EXD3_chr9_137301896_137428162	137329456	T T	TACACAGG others(203): Show TACACAGGGTCACACGGGACTACACGGGACTACACGGGGTCACACGGGAC TACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGAC TACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGGAC TACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGGGAC TACACGGGGTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	67	0.0149	210	c.199 others(229): Show c.1999-5314_1999-5313insGACCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329576	G G	GCTACACG others(203): Show GCTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGG GTCACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGG ACTACACGGGACTACACGGGACTACACGGGGCTACACGGGACTACACAGG GTCACACGGGACTACACGGGACTACACGGGACTACACGGGACTACACGGG GTCACACGGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0024 a0024	a0024c0036 a0024c0036	a0024c0036t0001 a0024c0036t0001	a0024c0036t0001g0003 a0024c0036t0001g0003	1	55	0.0182	210	c.199 others(229): Show c.1999-5434_1999-5433insTCCCGTGTGACCCCGTGTAGTCCCGT GTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FAM171A1_chr10_15206643_15376289	15229788	A A	ACTATCAC others(203): Show ACTATCACCAACATCATCATCATCACCATCACCATCATCACCATCACCAT CATCACCATTGTCACCCCCCTCACCATCATCACCATCATCACCATTGTCA CCCCCATCACCATCACCAACGTCATCATCATCACCATCATCACCATCACC ATCATCACCATTGTCACCCCCATCACCATCATCACCATCACCATCATCAC CATTGTCACCC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA20752.hp2 NA19004.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0212 a0002c0002t0002g0021 a0001c0001t0001g0212 a0002c0002t0002g0021	2	259	0.0077	210	c.755 others(227): Show c.755-8729_755-8728insGGGTGACAATGGTGATGATGGTGATGGT GATGATGGTGATGGGGGTGACAATGGTGATGATGGTGATGGTGATGATGG TGATGATGATGACGTTGGTGATGGTGATGGGGGTGACAATGGTGATGATG GTGATGATGGTGAGGGGGGTGACAATGGTGATGATGGTGATGGTGATGAT GGTGATGGTGATGATGATGATGTTGGTGATAG	FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	5/7			chr10	TogoVar
FAT1_chr4_186582794_186728856	186626274	G G	GTGAGCTT others(203): Show GTGAGCTTCATCAGCCTACAGAATGAATGAATGAATGAATGAGGGACCAA CATGGCACCTGGCACATAAAGTGAGCTTCATCAGCCTACAGAATGAATGA ATGAATGAATGAGGGACCAACATGGCACCTGGCACATAAAGCGAGCTTCA TCAGCCTACAGAATGAATGAATGAATGAATGAGGGACCAACATGGCACCT CGCACATAAAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03471.hp2 HG02647.hp1 HG03471.hp2	a0002 a0073 a0002 a0073	a0002c0151 a0073c0106 a0002c0151 a0073c0106	a0002c0151t0006 a0073c0106t0026 a0002c0151t0006 a0073c0106t0026	a0002c0151t0006g0028 a0073c0106t0026g0006 a0002c0151t0006g0028 a0073c0106t0026g0006	2	336	0.0060	210	c.481 others(229): Show c.4810+1670_4810+1879dupGTTTATGTGCGAGGTGCCATGTTGGT CCCTCATTCATTCATTCATTCATTCTGTAGGCTGATGAAGCTCGCTTTAT GTGCCAGGTGCCATGTTGGTCCCTCATTCATTCATTCATTCATTCTGTAG GCTGATGAAGCTCACTTTATGTGCCAGGTGCCATGTTGGTCCCTCATTCA TTCATTCATTCATTCTGTAGGCTGATGAAGCTCA	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	9/26			chr4	TogoVar
FBN2_chr5_128252909_128543245	128449376	T T	TAGTATAC others(203): Show TAGTATACTATATAATAGTATACTGTATAATTATACAGTATACTATATAA TAGTATACTGTATAATTATACAGTATACTATATAATAGTATACTGTATAA TTATACAGTATACTATATAATAGTATACTGTATAATTATACAGTATACTA TATAATAGTATACTGTATAATTATACAGTATACTATATAATAGTATACTG TATAATTATAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0050 a0001c0009t0002g0050	1	209	0.0048	210	c.827 others(227): Show c.827-2771_827-2770insGTATAATTATACAGTATACTATTATATA GTATACTGTATAATTATACAGTATACTATTATATAGTATACTGTATAATT ATACAGTATACTATTATATAGTATACTGTATAATTATACAGTATACTATT ATATAGTATACTGTATAATTATACAGTATACTATTATATAGTATACTGTA TAATTATACAGTATACTATTATATAGTATACT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	6/64			chr5	TogoVar
FER1L5_chr2_96637764_96709883	96659350	C C	CTTTCTTT others(203): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0002 a0001c0004t0001g0002	1	180	0.0056	210	c.748 others(225): Show c.748-989_748-988insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FGFR4_chr5_177081915_177103144	177097063	C C	CCTCCTCT others(203): Show CCTCCTCTTCCTCCTTCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCC TCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTC CTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCCTCCTCCT CCTCCTCTTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCC TTCTCCTCCTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03041.hp1 HG02622.hp2 HG03041.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0048 a0003c0007t0001g0048	2	368	0.0054	210	c.215 others(227): Show c.2154-227_2154-226insCCTCTTCCTCCTTCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCC TCCTGCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCTTC CTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FKBP2_chr11_64236095_64249132	64237115	G G	GGGAGAGG others(203): Show GGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGACAGA CAGAGACAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	323	0.0031	210	c.-40 others(221): Show c.-4022_-4021insGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGG AGAGGGAGAGACAGACAGAGACAGAC	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3979		chr11	TogoVar
FLT3_chr13_27998274_28105576	27998863	T T	TATATTTA others(203): Show TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATATTTA TATACATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0123 a0002c0002t0002g0123	1	95	0.0105	210	c.51 others(221): Show c.5188_*5189insTTATATGTATATAAATATATATATTTATATGTAT ATAAATATATATATTTATATGTATATAAATATATATATTTATATGTATAT AAATATATATATTTATATGTATATAAATATATATATTTATATGTATATAA ATATATATATTTATATGTATATAAATATATATATTTATATGTATATAAAT ATATATATTTATATGTATATAAATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4410		chr13	TogoVar
FLT3_chr13_27998274_28105576	27998923	T T	TTATATGC others(203): Show TTATATGCATATAAATATATATTTATATGCATATAAATATATATTTATAT ACATATAAATATATATGTATATGCATATAAATATATGTATATACATATAA ATATATATGTATATACATATAAATATATATGTATATACATATATATATAT GTATATACATATAAATATATATGTATATACATATATATATGTATATACAT ATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0209 a0004c0006t0001g0209	1	287	0.0035	210	c.51 others(221): Show c.5128_*5129insCATATATATATATGTATATACATATATATATGTA TATACATATATATTTATATGTATATACATATATATATATGTATATACATA TATATTTATATGTATATACATATATATTTATATGTATATACATATATTTA TATGCATATACATATATATTTATATGTATATAAATATATATTTATATGCA TATAAATATATATTTATATGCATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4350		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999082	A A	AATATATA others(203): Show AATATATATTTATATACATATAAATATATATTTATATACATATAAAAATC TATATTTATATACATATAAAAATATATATTTATATACATATAAAAATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATAAATATATATATTTATATACATATAAATATATATATTTA TATACATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19063.hp1 NA19009.hp2 NA19063.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0010 a0001c0004t0001g0043 a0001c0004t0001g0010 a0001c0004t0001g0043	2	215	0.0093	210	c.49 others(221): Show c.4969_*4970insATTTATGTATATAAATATATATATTTATATGTAT ATAAATATATATATTTATGTATATAAATATATATATTTATATGTATATAA ATATATATATTTATATGTATATAAATATATATTTTTATATGTATATAAAT ATATATTTTTATATGTATATAAATATAGATTTTTATATGTATATAAATAT ATATTTATATGTATATAAATATATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4191		chr13	TogoVar
FOXN3_chr14_89151177_89422233	89361614	C C	CACCACCT others(203): Show CACCACCTCCAGCACCACCACCTCCACCACCACCACCTCCAGCACCACCT CCACCACCACCTCCACCACCACCACCTCCAGCACCACCACCACCACCACC TCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCAC CACCTCCAGCACCACCACCACCACCACCTCCAGCACCACCTCCACCACCA CCTCCACCACT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0050 a0001c0001t0007g0050	1	201	0.0050	210	c.544 others(229): Show c.544-10807_544-10806insAGTGGTGGAGGTGGTGGTGGAGGTGG TGCTGGAGGTGGTGGTGGTGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTG GTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGG TGGTGGTGGTGGAGGTGGTGGTGCTGGAGGTGGT	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GLTPD2_chr17_4783964_4795589	4790733	G G	GTATACAG others(203): Show GTATACAGCAAGCATCCTGCACACTCCACAGACGCGGCAAATGCAACGCG TCCAACACGGGTCCCACCACCATCCCCCTAAGAACTACACCTCCTCCTGT GTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCTTCAGCTACCCAAG CGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCAGCTCCATAATGTA TGTTTATTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18992.hp1 NA18944.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	3	0.6667	210	c.43 others(219): Show c.437_*438insTATACAGCAAGCATCCTGCACACTCCACAGACGCGG CAAATGCAACGCGTCCAACACGGGTCCCACCACCATCCCCCTAAGAACTA CACCTCCTCCTGTGTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCT TCAGCTACCCAAGCGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCA GCTCCATAATGTATGTTTATTAAA	GLTPD2	ENSG00000182327.8	transcript	ENST00000331264.8	protein_coding		145		chr17	TogoVar
GLTPD2_chr17_4783964_4795589	4790733	G G	GTATACAG others(203): Show GTATACAGCAAGCATCCTGCACACTCCACAGACGCTGCAAATGCAACGCG TCCAACACGGGTCCCACCACCATCCCCCTAAGAACTACACCTCCTCCTGT GTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCTTCAGCTACCCAAG CGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCAGCTCCATAATGTA TGTTTATTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(444): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0001c0013 a0002c0002 a0002c0012 a0004c0007 a0005c0006 a0006c0011	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(11): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0001 a0001c0010t0001 a0001c0013t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0012t0001 a0004c0007t0001 a0005c0006t0001 a0006c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0003t0001g0001 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0003t0001g0001 a0001c0003t0001g0004 a0001c0003t0002g0001 a0001c0004t0001g0001 a0001c0005t0001g0001 a0001c0010t0001g0002 a0001c0013t0001g0001 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0002g0001 a0002c0002t0003g0001 a0002c0012t0001g0001 a0004c0007t0001g0001 a0005c0006t0001g0001 a0006c0011t0001g0001	447	448	0.9978	210	c.43 others(219): Show c.437_*438insTATACAGCAAGCATCCTGCACACTCCACAGACGCTG CAAATGCAACGCGTCCAACACGGGTCCCACCACCATCCCCCTAAGAACTA CACCTCCTCCTGTGTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCT TCAGCTACCCAAGCGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCA GCTCCATAATGTATGTTTATTAAA	GLTPD2	ENSG00000182327.8	transcript	ENST00000331264.8	protein_coding		145		chr17	TogoVar
GLTPD2_chr17_4783964_4795589	4790733	G G	GTATACAG others(203): Show GTATACAGCAAGCATCCTGCACACTCCACAGACGCTGCAAATGCAACGCG TCCAACACGGGTCCCACCACCATCCCCGTAAGAACTACACCTCCTCCTGT GTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCTTCAGCTACCCAAG CGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCAGCTCCATAATGTA TGTTTATTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01070.hp1 HG01074.hp2 others(3): Show HG00733.hp2 HG01070.hp1 HG01074.hp2 HG01257.hp1 HG02523.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0001 a0001c0009t0001g0001 a0001c0001t0001g0001 a0001c0009t0001g0001	6	7	0.8571	210	c.43 others(219): Show c.437_*438insTATACAGCAAGCATCCTGCACACTCCACAGACGCTG CAAATGCAACGCGTCCAACACGGGTCCCACCACCATCCCCGTAAGAACTA CACCTCCTCCTGTGTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCT TCAGCTACCCAAGCGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCA GCTCCATAATGTATGTTTATTAAA	GLTPD2	ENSG00000182327.8	transcript	ENST00000331264.8	protein_coding		145		chr17	TogoVar
GLTPD2_chr17_4783964_4795589	4790733	G G	GTATACAG others(203): Show GTATACAGCAAGCATCCTGCACACTCCACAGACGCTGCAAATGCAACGCG TCCAACATGGGTCCCACCACCATCCCCCTAAGAACTACACCTCCTCCTGT GTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCTTCAGCTACCCAAG CGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCAGCTCCATAATGTA TGTTTATTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 NA19240.hp1 HG01358.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	2	3	0.6667	210	c.43 others(219): Show c.437_*438insTATACAGCAAGCATCCTGCACACTCCACAGACGCTG CAAATGCAACGCGTCCAACATGGGTCCCACCACCATCCCCCTAAGAACTA CACCTCCTCCTGTGTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCT TCAGCTACCCAAGCGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCA GCTCCATAATGTATGTTTATTAAA	GLTPD2	ENSG00000182327.8	transcript	ENST00000331264.8	protein_coding		145		chr17	TogoVar
GPHN_chr14_66503147_67186803	66683369	T T	TATGTTCA others(203): Show TATGTTCATATATATATATGTTCATATATATGTTCATATATATATGTTCA TATATATGTATGTTCATATATATATGTACATATATATGTTCATATATGTA TGTTCATATATATATGTACATATATATGTTCATATATGTATGTTCATATA TATATGTACATATATATGTTCATATATATATGTTCATATATATGTTCATA TATATATGTTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	112	0.0089	210	c.143 others(227): Show c.143+2186_143+2187insGTTCATATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTATGTTCATATATATATGTACAT ATATATGTTCATATATGTATGTTCATATATATATGTACATATATATGTTC ATATATGTATGTTCATATATATATGTACATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATGTTCAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPR155_chr2_174426571_174492029	174454804	G G	GAAGGGAA others(203): Show GAAGGGAAGGAAGGGAAAGGAAGGAAAGGGAAGGAAAGGGAAGGAAGGGA AGGAAGGGAAGGAAGGGAAGGGAAGGAAAAGAAAGGAAGGAAAAGGAAGG AAGGGAAAGGAAGGAAGGAAAAGGAAGGAAGGGAGAGGAAGGAAGGGAAA GGAAGGAAAGGGAAGGAAAGGGAAGGAAGGGAAGGGAAGGAAGGGAAAGG AAGGAAAGGGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0138 a0001c0004t0035g0138	1	290	0.0034	210	c.177 others(227): Show c.1772-964_1772-963insTCCCTTTCCTTCCTTTCCCTTCCTTCCC TTCCCTTCCTTCCCTTTCCTTCCCTTTCCTTCCTTTCCCTTCCTTCCTCT CCCTTCCTTCCTTTTCCTTCCTTCCTTTCCCTTCCTTCCTTTTCCTTCCT TTCTTTTCCTTCCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTTC CTTCCCTTTCCTTCCTTTCCCTTCCTTCCCTT	GPR155	ENSG00000163328.14	transcript	ENST00000392552.7	protein_coding	10/15			chr2	TogoVar
GPRIN1_chr5_176590802_176615156	176591707	G G	GTGGTGAT others(203): Show GTGGTGATGATGGTGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT GGTGGTGATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0011	2	396	0.0051	210	c.51 others(221): Show c.5100_*5101insTCATCACCACCATCACCATCACAACCATCACCAT CACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCAC CATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCAT CACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAAC CATCACCATCACCACCATCATCACCA	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4094		chr5	TogoVar
GRK5_chr10_119202571_119464745	119313019	A A	AGTGGTAA others(203): Show AGTGGTAATGGCAGTGGTGATGGTGGTGGTGGTAATGATGATGGTGGTGG TGATGGTGGTCGTGACGGTGATGGTAGTGGTAATGGCAGTGGTGATGGTG GTGGTGGTAATGATGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGATGGTAATGATGGTAGTGGTGATGGTGATGATGGTAATGATGGTAG TGGTGATGGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0176 a0001c0001t0005g0176	1	198	0.0051	210	c.53- others(227): Show c.53-13438_53-13437insCGTGACGGTGATGGTAGTGGTAATGGCA GTGGTGATGGTGGTGGTGGTAATGATGATGGTGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGATGGTAATGATGGTAGTGGTGATGGTGATGATGG TAATGATGGTAGTGGTGATGGTGGTGGTAATGGCAGTGGTGATGGTGGTG GTGGTAATGATGATGGTGGTGGTGATGGTGGT	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
GRP_chr18_59215158_59235771	59234548	C C	CATACCAT others(203): Show CATACCATGGTATATATATTATATAACATATTATATATACCATGGTATAT ATATTATATAACATATTATATATACCATGGTATATATATTATATAACATA TTATATATACCATGGTATATATATTATATAACATATTATATATACCATGG TATATATATTATATAACATATTATATATACCATGGTATATATATTATATA ACATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	10	0.1000	210	c.40 others(221): Show c.4080_*4081insATACCATGGTATATATATTATATAACATATTATA TATACCATGGTATATATATTATATAACATATTATATATACCATGGTATAT ATATTATATAACATATTATATATACCATGGTATATATATTATATAACATA TTATATATACCATGGTATATATATTATATAACATATTATATATACCATGG TATATATATTATATAACATATTATAT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3778		chr18	TogoVar

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