Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FAM227B_chr15_49321970_49625818	49371733	T T	TAATGAAA others(45): Show TAATGAAATAAAATTCACTTATAAATAAATGAAATAAAATTCACTTATAA ATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(61): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG01099.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01516.hp2 HG01884.hp2 HG01943.hp1 HG01978.hp1 HG02055.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp1 NA18942.hp2 NA18961.hp2 NA18973.hp1 NA18979.hp1 NA18980.hp1 NA18986.hp1 NA18999.hp1 NA19009.hp2 NA19011.hp1 NA19060.hp2 NA19065.hp2 NA19068.hp1 NA19080.hp2 NA19085.hp1 NA19088.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0002 a0004c0006 others(2): Show a0001c0001 a0001c0002 a0004c0006 a0005c0005 a0006c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0017 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0004c0006t0001 a0005c0005t0011 a0006c0007t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0037 others(60): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0093 a0001c0001t0004g0180 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0011g0269 a0001c0001t0017g0094 a0001c0002t0006g0285 a0001c0002t0006g0286 a0001c0002t0007g0284 a0001c0002t0007g0287 a0001c0002t0008g0278 a0004c0006t0001g0098 a0004c0006t0001g0159 a0005c0005t0011g0262 a0005c0005t0011g0263 a0006c0007t0001g0202	64	294	0.2177	52	c.101 others(69): Show c.1013-386_1013-335dupTATTTATAAGTGAATTTTATTTCATTTA TTTATAAGTGAATTTTATTTCATT	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM227B_chr15_49321970_49625818	49371914	T T	TAATGAAA others(45): Show TAATGAAATAAAATTCACTTATAAATAAATGAAATAAAATTCACTTATAA ATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00609.hp2 others(22): Show HG00099.hp1 HG00280.hp2 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG01099.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01516.hp2 HG01978.hp1 HG02135.hp1 HG02257.hp2 HG02293.hp1 HG02486.hp2 HG02602.hp1 HG02735.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03710.hp2 HG03927.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0003 others(21): Show a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0093 a0001c0001t0004g0180	25	294	0.0850	52	c.101 others(69): Show c.1013-567_1013-516dupTATTTATAAGTGAATTTTATTTCATTTA TTTATAAGTGAATTTTATTTCATT	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM227B_chr15_49321970_49625818	49371992	A A	AAATGAAA others(45): Show AAATGAAATAAAATTCACTTATAAATCAATGAAATAAAATTCACTTATAA ATC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01884.hp1 others(1): Show HG01516.hp1 HG01517.hp2 HG01884.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0007 a0001c0002t0021 a0001c0001t0013 a0001c0002t0007 a0001c0002t0021	a0001c0001t0013g0271 a0001c0001t0013g0272 a0001c0002t0007g0284 others(1): Show a0001c0001t0013g0271 a0001c0001t0013g0272 a0001c0002t0007g0284 a0001c0002t0021g0281	4	294	0.0136	52	c.101 others(69): Show c.1013-645_1013-594dupGATTTATAAGTGAATTTTATTTCATTGA TTTATAAGTGAATTTTATTTCATT	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM227B_chr15_49321970_49625818	49372070	C C	CAATGAAA others(45): Show CAATGAAATAAAATTCACTTATAAATCAATGAAATAAAATTCACTTATAA ATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02486.hp1 others(6): Show HG01884.hp2 HG02055.hp1 HG02486.hp1 HG02572.hp1 HG02723.hp2 HG02818.hp1 HG03209.hp2 HG03579.hp2 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0005 a0001c0001 a0001c0002 a0005c0005	a0001c0001t0006 a0001c0001t0011 a0001c0002t0006 others(1): Show a0001c0001t0006 a0001c0001t0011 a0001c0002t0006 a0005c0005t0011	a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0266 others(6): Show a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0011g0269 a0001c0002t0006g0285 a0001c0002t0006g0286 a0005c0005t0011g0262 a0005c0005t0011g0263	9	294	0.0306	52	c.101 others(69): Show c.1013-672_1013-671insTATTTATAAGTGAATTTTATTTCATTGA TTTATAAGTGAATTTTATTTCATT	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM227B_chr15_49321970_49625818	49372070	C C	CAATGAAA others(45): Show CAATGAAATAAAATTCACTTATAAATCAATGAAATAAAATTCATTTATAA ATA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19060.hp1 NA18973.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0002 a0001c0001t0002 a0001c0009t0002	a0001c0001t0002g0145 a0001c0009t0002g0175 a0001c0001t0002g0145 a0001c0009t0002g0175	2	294	0.0068	52	c.101 others(69): Show c.1013-672_1013-671insTATTTATAAATGAATTTTATTTCATTGA TTTATAAGTGAATTTTATTTCATT	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM227B_chr15_49321970_49625818	49372165	T T	TTTATAAA others(45): Show TTTATAAATAAATGAAATAAAATTCACTTATAAATAAATGAAATAAAATT CAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp2 HG01884.hp1 others(18): Show HG01243.hp2 HG01255.hp2 HG01884.hp1 HG02055.hp2 HG02602.hp2 HG02723.hp1 HG03491.hp2 HG03540.hp2 HG03831.hp1 HG03942.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18942.hp1 NA18946.hp1 NA18957.hp2 NA18977.hp2 NA19001.hp2 NA19077.hp2 NA19079.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 others(2): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0002t0008 a0001c0002t0021	a0001c0001t0005g0067 a0001c0001t0005g0081 a0001c0001t0005g0082 others(18): Show a0001c0001t0005g0067 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0147 a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0005g0222 a0001c0001t0009g0077 a0001c0001t0009g0078 a0001c0001t0009g0079 a0001c0001t0009g0080 a0001c0001t0010g0291 a0001c0001t0010g0292 a0001c0002t0008g0273 a0001c0002t0008g0275 a0001c0002t0021g0281	21	294	0.0714	52	c.101 others(69): Show c.1013-818_1013-767dupGTGAATTTTATTTCATTTATTTATAAGT GAATTTTATTTCATTTATTTATAA	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM227B_chr15_49321970_49625818	49372243	C C	CTTATAAA others(45): Show CTTATAAATAAATGAAATAAAATTCATTTATAAATAAATGAAATAAAATT CAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	2	294	0.0068	52	c.101 others(69): Show c.1013-845_1013-844insATGAATTTTATTTCATTTATTTATAAAT GAATTTTATTTCATTTATTTATAA	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FARP2_chr2_241351285_241499841	241366108	T T	TATATATA others(45): Show TATATATATATACATATATATATACATATATATATATATACATATATATA TAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	378	0.0027	52	c.-24 others(69): Show c.-24-6965_-24-6964insCATATATATATACATATATATATATATA CATATATATATACATATATATATA	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
FARP2_chr2_241351285_241499841	241366125	A A	ATATATAT others(45): Show ATATATATATACATATATATATATACGTATATATATATACATATATATAT ACG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03453.hp2 HG02486.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0142 a0001c0004t0001g0143 a0001c0001t0001g0142 a0001c0004t0001g0143	2	378	0.0053	52	c.-24 others(69): Show c.-24-6949_-24-6948insCATATATATATATACGTATATATATATA CATATATATATACGTATATATATA	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
FARS2_chr6_5256513_5776583	5315717	T T	TCTTTCTT others(45): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02630.hp1 HG02056.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0083 a0002c0002t0001g0009 a0002c0002t0001g0083	2	170	0.0118	52	c.-21 others(71): Show c.-21-52813_-21-52812insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTCCTTTCTTTCTTTCTTTCTTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FASTKD1_chr2_169523508_169578865	169561944	A A	AAATTATT others(45): Show AAATTATTTATTAATTTATTGTAAATTAATTATTTATTAATTTATTGTAA ATT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02056.hp2 HG02523.hp1 others(26): Show HG01943.hp1 HG02056.hp2 HG02523.hp1 HG03927.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18948.hp2 NA18949.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18970.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA19001.hp1 NA19003.hp1 NA19005.hp2 NA19060.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19087.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0001c0001t0001 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0167 others(25): Show a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0198 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0246 a0002c0002t0002g0321 a0002c0002t0002g0323 a0002c0002t0002g0330 a0002c0002t0002g0331 a0002c0002t0002g0332 a0002c0002t0002g0333 a0002c0002t0002g0348 a0002c0002t0002g0358 a0002c0002t0003g0013 a0002c0002t0003g0370 a0002c0002t0003g0371 a0002c0002t0003g0373 a0002c0002t0003g0374 a0002c0002t0003g0375 a0002c0002t0003g0376 a0002c0002t0003g0377 a0002c0002t0003g0378	29	392	0.0740	52	c.573 others(69): Show c.573-1160_573-1159insAATTTACAATAAATTAATAAATAATTAA TTTACAATAAATTAATAAATAATT	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	4/14			chr2	TogoVar
FASTKD1_chr2_169523508_169578865	169561952	T T	TATTAATT others(45): Show TATTAATTTATTGTAAATTAATTATTTATTAATTTATTGTAAATTAATTA TTC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0042 a0002c0004t0001g0042	1	392	0.0026	52	c.573 others(69): Show c.573-1168_573-1167insGAATAATTAATTTACAATAAATTAATAA ATAATTAATTTACAATAAATTAAT	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	4/14			chr2	TogoVar
FASTKD1_chr2_169523508_169578865	169562005	A A	ATTAATTT others(45): Show ATTAATTTATTGTAAATTAATTATTTGTTAATTTATTGTAAATTAATTAT TTG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	392	0.0026	52	c.572 others(69): Show c.572+1219_572+1220insCAAATAATTAATTTACAATAAATTAACA AATAATTAATTTACAATAAATTAA	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	4/14			chr2	TogoVar
FASTKD1_chr2_169523508_169578865	169562099	A A	ATAATTAT others(45): Show ATAATTATTTATTAATTTATTGTAAAATAATTATTTATTAATTTATTGTA AAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0300 a0003c0005t0001g0300	1	392	0.0026	52	c.572 others(69): Show c.572+1125_572+1126insATTTACAATAAATTAATAAATAATTATT TTACAATAAATTAATAAATAATTA	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	4/14			chr2	TogoVar
FASTKD1_chr2_169523508_169578865	169562112	A A	AATTTATT others(45): Show AATTTATTGTAAATTAATTATTTATTAATTTATTGTAAATTAATTATTTA TTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0115 a0002c0004t0001g0115	1	392	0.0026	52	c.572 others(69): Show c.572+1112_572+1113insCAATAAATAATTAATTTACAATAAATTA ATAAATAATTAATTTACAATAAAT	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	4/14			chr2	TogoVar
FAT3_chr11_92219818_92901473	92412736	T T	TATATATA others(45): Show TATATATACACATATATATATATATATACACATATATATATATATACACA CAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0024 a0008c0021t0024	a0008c0021t0024g0101 a0008c0021t0024g0101	1	118	0.0085	52	c.329 others(73): Show c.3292+57339_3292+57340insCACATATATATATATATATACACA TATATATATATATACACACACATATATA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92753798	G G	GTGTGTGT others(45): Show GTGTGTGTGTATATATATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0041 a0003c0041	a0003c0041t0002 a0003c0041t0002	a0003c0041t0002g0073 a0003c0041t0002g0073	1	118	0.0085	52	c.367 others(71): Show c.3670-8057_3670-8056insGTGTGTGTATATATATATATATATAT ATATATATATATATATATATATATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FBN2_chr5_128252909_128543245	128539931	C C	CATATATC others(45): Show CATATATCATATATATCATATATATCATATATCATATATATCATATATAT CAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0110 a0001c0001t0013g0110	1	236	0.0042	52	c.-23 others(63): Show c.-2329_-2328insATGATATATATGATATATATGATATATGATATAT ATGATATATATGATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1687		chr5	TogoVar
FBN2_chr5_128252909_128543245	128539958	T T	TATATATC others(45): Show TATATATCATATATATCATATATATCATATATATCATATATATCATATAT ATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp2 HG01346.hp1 HG01346.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0013 a0001c0001 a0003c0013	a0001c0001t0001 a0003c0013t0007 a0001c0001t0001 a0003c0013t0007	a0001c0001t0001g0164 a0003c0013t0007g0171 a0001c0001t0001g0164 a0003c0013t0007g0171	2	236	0.0085	52	c.-23 others(63): Show c.-2356_-2355insGATATATATGATATATATGATATATATGATATAT ATGATATATATGATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1714		chr5	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAGGAA others(45): Show GGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0289 a0003c0016t0001g0289	1	380	0.0026	52	c.204 others(69): Show c.2044+598_2044+599insTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTCCTTCCTTCCTTCCTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAGGAA others(45): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAA GGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0018 a0018	a0018c0014 a0018c0014	a0018c0014t0002 a0018c0014t0002	a0018c0014t0002g0275 a0018c0014t0002g0275	1	380	0.0026	52	c.204 others(69): Show c.2044+598_2044+599insTCCTTTCCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAGGAA others(45): Show GGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGGAAAGGAAAGGAAAGGAAA GGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0013 a0013	a0013c0129 a0013c0129	a0013c0129t0001 a0013c0129t0001	a0013c0129t0001g0262 a0013c0129t0001g0262	1	380	0.0026	52	c.204 others(69): Show c.2044+598_2044+599insTCCTTTCCTTTCCTTTCCTTTCCTTTCC CTTCCTTCCTTCCTTCCTTCCTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBN3_chr19_8060402_8154592	8130639	A A	AGAAAGGA others(45): Show AGAAAGGAAGGAAGGAAGGAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG03239.hp2 HG01516.hp2 HG01517.hp2 HG03239.hp2	a0001 a0048 a0001 a0048	a0001c0021 a0048c0028 a0001c0021 a0048c0028	a0001c0021t0002 a0048c0028t0001 a0001c0021t0002 a0048c0028t0001	a0001c0021t0002g0046 a0048c0028t0001g0049 a0048c0028t0001g0093 a0001c0021t0002g0046 a0048c0028t0001g0049 a0048c0028t0001g0093	3	380	0.0079	52	c.204 others(69): Show c.2044+595_2044+596insCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCCTTCCTTCCTTCCTTCCTTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	244	0.0041	52	c.182 others(73): Show c.1822+40260_1822+40261insAAAAAAAAAAAAAAAAAAAATATA TATATATATATATATATATATATATATA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	244	0.0041	52	c.182 others(73): Show c.1822+40260_1822+40261insAAAAAAAAAAAAAAAAAAAAAATA TATATATATATATATATATATATATATA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009308	T T	TATATATA others(45): Show TATATATATAGATAGATAGATAGATAGATAGATAGATATATATATATACA CAC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0191	1	244	0.0041	52	c.182 others(73): Show c.1822+11616_1822+11617insGTGTGTATATATATATATCTATCT ATCTATCTATCTATCTATCTATATATAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXO11_chr2_47801920_47911498	47900557	C C	CGTATATA others(45): Show CGTATATATACACACGTATATACGTGTGTATATATACACACGTATATACG TGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0282 a0001c0001t0003g0282	1	318	0.0031	52	c.232 others(69): Show c.232+4931_232+4932insACACGTATATACGTGTGTATATATACAC ACGTATATACGTGTGTATATATAC	FBXO11	ENSG00000138081.22	transcript	ENST00000403359.8	protein_coding	1/22			chr2	TogoVar
FBXO11_chr2_47801920_47911498	47900665	T T	TATACACA others(45): Show TATACACACACGTGTATATATATACACGTATACACACACGTGTATATATA TAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03540.hp2 HG02895.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0031 a0001c0002t0002g0032	2	318	0.0063	52	c.232 others(69): Show c.232+4823_232+4824insGTATATATATACACGTGTGTGTATACGT GTATATATATACACGTGTGTGTAT	FBXO11	ENSG00000138081.22	transcript	ENST00000403359.8	protein_coding	1/22			chr2	TogoVar
FBXO31_chr16_87321987_87388776	87365010	A A	AATATATA others(45): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG06807.hp2 NA19056.hp1 HG02027.hp2 HG06807.hp2 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0001c0001t0005 a0002c0005t0026 a0001c0001t0002 a0001c0001t0005 a0002c0005t0026	a0001c0001t0002g0307 a0001c0001t0005g0198 a0002c0005t0026g0013 a0001c0001t0002g0307 a0001c0001t0005g0198 a0002c0005t0026g0013	3	376	0.0080	52	c.341 others(69): Show c.341-4645_341-4644insATATATATATATATATATATATATATAT ATATATATATATATATATATATAT	FBXO31	ENSG00000103264.18	transcript	ENST00000311635.12	protein_coding	1/8			chr16	TogoVar
FBXO34_chr14_55266421_55358611	55331753	A A	ATATGTAT others(45): Show ATATGTATATATATATATATATATGTATATATATATGTATATATATATAT GTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0180 a0001c0001t0004g0180	1	334	0.0030	52	c.-10 others(71): Show c.-10-18625_-10-18624insGTATATATATATATATATATGTATAT ATATATGTATATATATATATGTGTAT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO47_chr17_38931432_38972403	38946049	A A	AATATATA others(45): Show AATATATAAATACATAAATATATATTTATATATAAATACATAAATATATA TTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03130.hp1 HG02738.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0273 a0001c0001t0004g0341 a0001c0001t0001g0273 a0001c0001t0004g0341	2	344	0.0058	52	c.617 others(67): Show c.617-965_617-914dupAAATATATATTTATGTATTTATATATAAAT ATATATTTATGTATTTATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FCHSD2_chr11_72831745_73147318	73142811	C C	CGTGTGTG others(45): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0157 a0001c0001t0011g0157	1	290	0.0035	52	c.-93 others(61): Show c.-935_-934insACACACACACACACACACACACACACACACACACAC ACACACACACACACAC	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding		494		chr11	TogoVar
FDX1_chr11_110424948_110469884	110444653	T T	TATATATG others(45): Show TATATATGTATATATATATATATACATATATATATACGTATATATATATA TAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0290 a0001c0001t0006g0290	1	400	0.0025	52	c.310 others(69): Show c.310+8701_310+8702insGTATATATATATATATACATATATATAT ACGTATATATATATATACATATAT	FDX1	ENSG00000137714.3	transcript	ENST00000260270.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
FDX1_chr11_110424948_110469884	110444728	A A	ATATATAT others(45): Show ATATATATATATACATATATATGTATATATATATATACATACATATATAT ATG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0251 a0001c0001t0006g0251	1	400	0.0025	52	c.310 others(69): Show c.310+8782_310+8783insCATATATATGTATATATATATATACATA CATATATATATGTATATATATATA	FDX1	ENSG00000137714.3	transcript	ENST00000260270.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
FER1L6_chr8_123846987_124125061	123855982	A A	AGATATAT others(45): Show AGATATATGTATATACATATGTATATGAGATATATGTATATACATATGTA TAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG01099.hp2 others(14): Show HG00140.hp1 HG00558.hp2 HG01099.hp2 HG01169.hp2 HG01346.hp1 HG02135.hp2 HG02572.hp1 HG02615.hp2 HG02897.hp2 HG02922.hp1 HG03453.hp1 HG03453.hp2 HG03654.hp1 HG04228.hp1 NA18968.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0016	a0001c0001 a0001c0004 a0001c0005 others(9): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0002c0003 a0002c0018 a0002c0019 a0002c0038 a0003c0013 a0016c0049	a0001c0001t0001 a0001c0001t0003 a0001c0004t0005 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0005 a0001c0005t0001 a0001c0006t0003 a0001c0008t0003 a0001c0009t0002 a0002c0003t0002 a0002c0018t0001 a0002c0019t0001 a0002c0019t0004 a0002c0038t0001 a0003c0013t0002 a0016c0049t0003	a0001c0001t0001g0126 a0001c0001t0001g0170 a0001c0001t0003g0019 others(14): Show a0001c0001t0001g0126 a0001c0001t0001g0170 a0001c0001t0003g0019 a0001c0001t0003g0026 a0001c0004t0005g0022 a0001c0005t0001g0119 a0001c0006t0003g0033 a0001c0006t0003g0039 a0001c0008t0003g0092 a0001c0009t0002g0133 a0002c0003t0002g0049 a0002c0018t0001g0046 a0002c0019t0001g0108 a0002c0019t0004g0088 a0002c0038t0001g0063 a0003c0013t0002g0117 a0016c0049t0003g0044	17	196	0.0867	52	c.-8+ others(67): Show c.-8+3800_-8+3851dupTATATGTATATACATATGTATATGAGATAT ATGTATATACATATGTATATGA	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FER1L6_chr8_123846987_124125061	123856188	T T	TATGTGTA others(45): Show TATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATA TAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02129.hp1 HG00673.hp2 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0046 a0001c0001 a0001c0046	a0001c0001t0003 a0001c0046t0001 a0001c0001t0003 a0001c0046t0001	a0001c0001t0003g0061 a0001c0046t0001g0139 a0001c0001t0003g0061 a0001c0046t0001g0139	2	196	0.0102	52	c.-8+ others(67): Show c.-8+4028_-8+4079dupCATATGTGTATGAGATATATGTATATACAT GTGTATGAGATATATGTATATA	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FER1L6_chr8_123846987_124125061	123856316	G G	GTGTATAT others(45): Show GTGTATATATATATATATATATGTATGTGTGTGTGTGTGTATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03209.hp1 HG03195.hp2 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0020 a0001c0005 a0001c0020	a0001c0005t0003 a0001c0020t0001 a0001c0005t0003 a0001c0020t0001	a0001c0005t0003g0064 a0001c0020t0001g0035 a0001c0005t0003g0064 a0001c0020t0001g0035	2	196	0.0102	52	c.-8+ others(67): Show c.-8+4132_-8+4133insGTATATATATATATATATATGTATGTGTGT GTGTGTGTATATATATATATAT	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FER1L6_chr8_123846987_124125061	123856316	G G	GTGTATAT others(45): Show GTGTATATATATATATATATGTATGTGTGTGTGTGTGTATGTATATATAT ATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02818.hp1 HG01070.hp1 HG01071.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0047 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0001t0002g0047 a0001c0002t0003g0023 a0001c0002t0003g0024	3	196	0.0153	52	c.-8+ others(67): Show c.-8+4132_-8+4133insGTATATATATATATATATGTATGTGTGTGT GTGTGTATGTATATATATATAT	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FER_chr5_108742897_109201841	108927252	C C	CTTTTTTT others(45): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0119	1	138	0.0073	52	c.123 others(73): Show c.1237-18859_1237-18858insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTT	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	109146210	T T	TATTTTAT others(45): Show TATTTTATATATATATATATTATCTATCTAATATATATATATTATCTATC TAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01433.hp1 HG02886.hp1 others(2): Show HG01099.hp2 HG01433.hp1 HG02886.hp1 HG04228.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0001t0049 a0001c0007t0015 others(1): Show a0001c0001t0004 a0001c0001t0049 a0001c0007t0015 a0001c0007t0039	a0001c0001t0004g0071 a0001c0001t0049g0027 a0001c0007t0015g0123 others(2): Show a0001c0001t0004g0071 a0001c0001t0049g0027 a0001c0007t0015g0123 a0001c0007t0015g0127 a0001c0007t0039g0131	5	138	0.0362	52	c.204 others(73): Show c.2049-34537_2049-34536insATTTTATATATATATATATTATCT ATCTAATATATATATATTATCTATCTAA	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	17/19			chr5	TogoVar
FEZ1_chr11_125437881_125501265	125498267	A A	ATATGTCT others(45): Show ATATGTCTCATATAGATGTCCCACATATATGTCTCATATAGATGTCCCAC ATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02280.hp1 HG02723.hp1 others(4): Show HG00438.hp1 HG02280.hp1 HG02723.hp1 HG02886.hp2 HG03225.hp1 NA18906.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0004 a0002c0002t0020 a0002c0004t0001	a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0002g0322 others(4): Show a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0002g0322 a0002c0002t0001g0011 a0002c0002t0004g0134 a0002c0002t0020g0144 a0002c0004t0001g0114	7	356	0.0197	52	c.-21 others(63): Show c.-2193_-2192insCATGTGGGACATCTATATGAGACATATATGTGGG ACATCTATATGAGACATA	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding		2003		chr11	TogoVar
FEZ1_chr11_125437881_125501265	125498267	A A	ATATGTCT others(45): Show ATATGTCTCATATAGATGTCCCACATGTATGTCTCATATAGATGTCCCAC ATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0325 a0001c0001t0003g0325	1	356	0.0028	52	c.-22 others(63): Show c.-2244_-2193dupCATGTGGGACATCTATATGAGACATACATGTGGG ACATCTATATGAGACATA	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding		2003		chr11	TogoVar
FEZ1_chr11_125437881_125501265	125498449	G G	GTATGTCT others(45): Show GTATGTCTCATATAGATGTCCCACATGTATGTCTCATATAGATGTCCCAT ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0100 a0002c0002t0015g0100	1	356	0.0028	52	c.-23 others(63): Show c.-2375_-2374insTATATGGGACATCTATATGAGACATACATGTGGG ACATCTATATGAGACATA	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding		2185		chr11	TogoVar
FEZ1_chr11_125437881_125501265	125498449	G G	GTATGTCT others(45): Show GTATGTCTCATATAGATGTCCCATATGTATGTCTCATATAGATGTCCCAT ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0128 a0002c0002t0001g0128	1	356	0.0028	52	c.-23 others(63): Show c.-2375_-2374insTATATGGGACATCTATATGAGACATACATATGGG ACATCTATATGAGACATA	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding		2185		chr11	TogoVar
FGD4_chr12_32394558_32651050	32649724	C C	CCACCTGC others(45): Show CCACCTGCCTCGGCCTCCTAAAGTGCTGGGATTAAAATAAACATATAAAG AAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0194 a0002c0002t0004g0194	1	232	0.0043	52	c.91 others(63): Show c.9191_*9192insCACCTGCCTCGGCCTCCTAAAGTGCTGGGATTAA AATAAACATATAAAGAAG	FGD4	ENSG00000139132.16	transcript	ENST00000534526.7	protein_coding		3675		chr12	TogoVar
FGF10_chr5_44295247_44394420	44302282	G G	GCTTCCTT others(45): Show GCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTGCTTCCTTCCTTCC TTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0181 a0001c0001t0066g0181	1	350	0.0029	52	c.27 others(63): Show c.2712_*2713insGAAGGAAGGAAGGAAGCAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAG	FGF10	ENSG00000070193.5	transcript	ENST00000264664.5	protein_coding	3/3	2712		chr5	TogoVar
FGF10_chr5_44295247_44394420	44349449	T T	TATATATA others(45): Show TATATATATATATATATCAGAATATATATATATATATATATATATATATC AGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0247 a0001c0001t0026g0247	1	350	0.0029	52	c.325 others(71): Show c.325+38908_325+38909insTCTGATATATATATATATATATATAT ATATATTCTGATATATATATATATAT	FGF10	ENSG00000070193.5	transcript	ENST00000264664.5	protein_coding	1/2			chr5	TogoVar
FGF18_chr5_171414647_171462626	171461629	C C	CTTTCTTT others(45): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0211 a0001c0001t0004g0211	1	388	0.0026	52	c.48 others(63): Show c.4824_*4825insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTT	FGF18	ENSG00000156427.8	transcript	ENST00000274625.6	protein_coding		4004		chr5	TogoVar
FGF22_chr19_634879_649373	643107	G G	GGGGACTC others(45): Show GGGGACTCGTGGTCTGGGGCAGGGGGGGCTCCTCGTGTCTGTCGTGGTCA TGA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0085 a0004c0005t0002g0085	1	434	0.0023	52	c.215 others(67): Show c.215-115_215-114insTGGGGCAGGGGGGGCTCCTCGTGTCTGTCG TGGTCATGAGGGACTCGTGGTC	FGF22	ENSG00000070388.12	transcript	ENST00000215530.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
FGGY_chr1_59292094_59767730	59491041	T T	TTCCTTTC others(45): Show TTCCTTTCCTTCCCTCCCCTCCCTCCTTCTTTCTCTCCCTCCCTCCCTCC CTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	166	0.0060	52	c.671 others(71): Show c.671-21270_671-21269insTCCTTTCCTTCCCTCCCCTCCCTCCT TCTTTCTCTCCCTCCCTCCCTCCCTC	FGGY	ENSG00000172456.18	transcript	ENST00000303721.12	protein_coding	6/15			chr1	TogoVar

Search by Variant

Search

Search Results