Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
QARS1_chr3_49090932_49109757	49096798	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp2 NA19060.hp1 HG00423.hp1 HG00642.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0075 a0001c0001t0001g0029 a0001c0001t0001g0075	3	25	0.1200	17	c.227 others(34): Show c.2278-736_2278-720dupTTTTTTTTTTTTTTTTT	QARS1	ENSG00000172053.18	transcript	ENST00000306125.12	protein_coding	23/23			chr3	TogoVar
QKI_chr6_163409718_163583592	163525433	A A	ACTGCAGC others(10): Show ACTGCAGCCTCTGCCTCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01109.hp1 others(14): Show HG00735.hp1 HG00738.hp1 HG01109.hp1 HG02273.hp1 HG02622.hp1 HG02698.hp1 HG02818.hp1 HG02886.hp1 HG02970.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03834.hp1 HG04115.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0014 a0001c0001t0043 others(4): Show a0001c0001t0012 a0001c0001t0014 a0001c0001t0043 a0001c0001t0051 a0001c0001t0100 a0001c0001t0101 a0001c0001t0108	a0001c0001t0012g0276 a0001c0001t0012g0279 a0001c0001t0012g0280 others(14): Show a0001c0001t0012g0276 a0001c0001t0012g0279 a0001c0001t0012g0280 a0001c0001t0012g0282 a0001c0001t0012g0283 a0001c0001t0012g0286 a0001c0001t0014g0287 a0001c0001t0014g0288 a0001c0001t0014g0290 a0001c0001t0014g0291 a0001c0001t0014g0294 a0001c0001t0043g0284 a0001c0001t0043g0285 a0001c0001t0051g0281 a0001c0001t0100g0278 a0001c0001t0101g0292 a0001c0001t0108g0277	17	300	0.0567	17	c.403 others(34): Show c.403-9547_403-9531dupTGCAGCCTCTGCCTCCC	QKI	ENSG00000112531.17	transcript	ENST00000361752.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
QKI_chr6_163409718_163583592	163572670	A A	ACCCCCCC others(10): Show ACCCCCCCCCCCCCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0123 a0001c0001t0097g0123	1	24	0.0417	17	c.19 others(28): Show c.1971_*1972insCCCCCCCCCCCCCCCCC	QKI	ENSG00000112531.17	transcript	ENST00000361752.8	protein_coding	8/8	1972	INFO_REALIGN_3_PRIME	chr6	TogoVar
QRFPR_chr4_121323642_121386018	121380186	G G	GGAGAGAG others(10): Show GGAGAGAGAGGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	53	0.0189	17	c.340 others(32): Show c.340+121_340+122insTCTCTCTCCTCTCTCTC	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
QRICH1_chr3_49024707_49099071	49087818	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	36	0.0278	17	c.-22 others(34): Show c.-22+6077_-22+6093dupTTTTTTTTTTTTTTTTT	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	1/9			chr3	TogoVar
QRICH2_chr17_76269049_76313276	76284168	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01952.hp1 HG02004.hp2 others(3): Show HG01256.hp1 HG01952.hp1 HG02004.hp2 HG02293.hp2 HG03579.hp2 NA19043.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0008 a0003c0003 a0006c0008	a0003c0003t0001 a0006c0008t0005 a0003c0003t0001 a0006c0008t0005	a0003c0003t0001g0194 a0003c0003t0001g0206 a0003c0003t0001g0208 others(3): Show a0003c0003t0001g0194 a0003c0003t0001g0206 a0003c0003t0001g0208 a0003c0003t0001g0211 a0006c0008t0005g0011 a0006c0008t0005g0346	6	152	0.0395	17	c.401 others(36): Show c.4012-2070_4012-2054dupTTTTTTTTTTTTTTTTT	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	7/18			chr17	TogoVar
QSOX1_chr1_180149869_180209030	180165871	C C	CGGCTCTG others(10): Show CGGCTCTGGCCAGCAGCA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0054 a0001c0004t0054	a0001c0004t0054g0123 a0001c0004t0054g0123	1	386	0.0026	17	c.266 others(32): Show c.266-618_266-617insCTCTGGCCAGCAGCAGG	QSOX1	ENSG00000116260.17	transcript	ENST00000367602.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
R3HDM1_chr2_135526484_135730269	135659088	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0166	1	227	0.0044	17	c.202 others(36): Show c.2029-2182_2029-2181insGTGTGTGTGTGTGTGTG	R3HDM1	ENSG00000048991.18	transcript	ENST00000683871.1	protein_coding	18/26			chr2	TogoVar
R3HDM2_chr12_57248764_57436043	57260263	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG00639.hp1 others(50): Show HG00099.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01243.hp1 HG01258.hp1 HG01361.hp1 HG01517.hp1 HG01928.hp1 HG01978.hp2 HG02074.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02976.hp2 HG03017.hp1 HG03471.hp1 HG03831.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18951.hp2 NA18956.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA19003.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19084.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0003c0010 a0004c0008 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0002c0003t0002 a0003c0004t0001 a0003c0010t0002 a0004c0008t0002 a0006c0013t0003	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0182 others(50): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0288 a0001c0001t0001g0305 a0001c0001t0001g0329 a0001c0001t0002g0149 a0001c0001t0002g0231 a0001c0001t0002g0238 a0001c0001t0002g0260 a0001c0002t0001g0128 a0001c0002t0002g0035 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0091 a0001c0002t0002g0104 a0001c0002t0002g0107 a0001c0002t0002g0114 a0001c0002t0002g0117 a0001c0002t0005g0334 a0001c0002t0009g0096 a0002c0003t0002g0297 a0003c0004t0001g0266 a0003c0010t0002g0098 a0004c0008t0002g0102 a0006c0013t0003g0272	53	64	0.8281	17	c.213 others(36): Show c.2132-1221_2132-1205dupTTTTTTTTTTTTTTTTT	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	19/23			chr12	TogoVar
R3HDM2_chr12_57248764_57436043	57320261	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18961.hp1 HG01106.hp2 NA18961.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0008 a0001c0002 a0004c0008	a0001c0002t0002 a0004c0008t0002 a0001c0002t0002 a0004c0008t0002	a0001c0002t0002g0020 a0004c0008t0002g0103 a0001c0002t0002g0020 a0004c0008t0002g0103	2	14	0.1429	17	c.-35 others(34): Show c.-35-9815_-35-9799dupTTTTTTTTTTTTTTTTT	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	2/23			chr12	TogoVar
R3HDM2_chr12_57248764_57436043	57371083	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	19	0.0526	17	c.-36 others(36): Show c.-36+24649_-36+24665dupAAAAAAAAAAAAAAAAA	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	2/23			chr12	TogoVar
R3HDM4_chr19_891503_918219	915198	A A	ATTCTGGG others(10): Show ATTCTGGGTTCCAGGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	430	0.0023	17	c.-20 others(28): Show c.-2042_-2041insAGCCCTGGAACCCAGAA	R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding		1980		chr19	TogoVar
RAB10_chr2_26029084_26142454	26080670	A A	AGTGTTTT others(10): Show AGTGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	210	0.0048	17	c.128 others(36): Show c.128-17980_128-17964dupTGTTTTGTGTTTTGTTT	RAB10	ENSG00000084733.11	transcript	ENST00000264710.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB11FIP1_chr8_37853618_37904497	37895260	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	216	0.0046	17	c.371 others(34): Show c.371+3810_371+3811insTATATATATATATATAT	RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	1/5			chr8	TogoVar
RAB11FIP3_chr16_420649_528011	462589	T T	TCAGCACG others(10): Show TCAGCACGATCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(162): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG01070.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18957.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18990.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(12): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0019 a0002c0003 a0003c0005 a0004c0007 a0005c0010 a0007c0016 a0008c0009 a0009c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0052 a0001c0001t0056 a0001c0001t0057 a0001c0001t0061 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0002t0016 a0001c0002t0031 a0001c0002t0039 a0001c0002t0044 a0001c0002t0045 a0001c0004t0003 a0001c0011t0002 a0001c0012t0060 a0001c0013t0053 a0001c0014t0040 a0001c0019t0002 a0002c0003t0007 a0002c0003t0011 a0003c0005t0014 a0004c0007t0022 a0005c0010t0005 a0007c0016t0002 a0008c0009t0003 a0009c0017t0038	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0140 others(162): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0140 a0001c0001t0001g0207 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0080 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0003g0059 a0001c0001t0003g0075 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0180 a0001c0001t0003g0209 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0219 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0258 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0004g0018 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0058 a0001c0001t0004g0066 a0001c0001t0004g0073 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0178 a0001c0001t0004g0208 a0001c0001t0005g0014 a0001c0001t0005g0065 a0001c0001t0007g0016 a0001c0001t0007g0047 a0001c0001t0007g0048 a0001c0001t0007g0052 a0001c0001t0007g0081 a0001c0001t0007g0133 a0001c0001t0007g0137 a0001c0001t0007g0245 a0001c0001t0008g0062 a0001c0001t0008g0064 a0001c0001t0008g0068 a0001c0001t0008g0076 a0001c0001t0008g0077 a0001c0001t0008g0148 a0001c0001t0008g0203 a0001c0001t0008g0294 a0001c0001t0010g0004 a0001c0001t0010g0029 a0001c0001t0010g0046 a0001c0001t0011g0079 a0001c0001t0011g0110 a0001c0001t0011g0131 a0001c0001t0011g0179 a0001c0001t0012g0026 a0001c0001t0012g0028 a0001c0001t0012g0104 a0001c0001t0013g0027 a0001c0001t0013g0030 a0001c0001t0013g0031 a0001c0001t0013g0032 a0001c0001t0013g0034 a0001c0001t0013g0035 a0001c0001t0014g0142 a0001c0001t0014g0143 a0001c0001t0014g0177 a0001c0001t0015g0038 a0001c0001t0015g0122 a0001c0001t0015g0123 a0001c0001t0015g0135 a0001c0001t0015g0136 a0001c0001t0015g0184 a0001c0001t0016g0003 a0001c0001t0016g0011 a0001c0001t0017g0049 a0001c0001t0017g0056 a0001c0001t0017g0060 a0001c0001t0017g0087 a0001c0001t0018g0043 a0001c0001t0018g0044 a0001c0001t0023g0039 a0001c0001t0023g0103 a0001c0001t0024g0128 a0001c0001t0024g0183 a0001c0001t0025g0021 a0001c0001t0025g0109 a0001c0001t0028g0091 a0001c0001t0030g0020 a0001c0001t0032g0164 a0001c0001t0034g0127 a0001c0001t0035g0213 a0001c0001t0036g0045 a0001c0001t0037g0033 a0001c0001t0041g0078 a0001c0001t0042g0126 a0001c0001t0043g0085 a0001c0001t0046g0138 a0001c0001t0047g0130 a0001c0001t0048g0139 a0001c0001t0049g0050 a0001c0001t0052g0063 a0001c0001t0056g0057 a0001c0001t0057g0124 a0001c0001t0061g0108 a0001c0002t0002g0121 a0001c0002t0002g0141 a0001c0002t0002g0146 a0001c0002t0002g0149 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0165 a0001c0002t0002g0167 a0001c0002t0002g0170 a0001c0002t0002g0172 a0001c0002t0002g0187 a0001c0002t0002g0190 a0001c0002t0002g0202 a0001c0002t0002g0260 a0001c0002t0005g0070 a0001c0002t0005g0074 a0001c0002t0005g0082 a0001c0002t0009g0040 a0001c0002t0009g0041 a0001c0002t0009g0084 a0001c0002t0009g0206 a0001c0002t0009g0261 a0001c0002t0016g0153 a0001c0002t0016g0154 a0001c0002t0031g0147 a0001c0002t0039g0037 a0001c0002t0044g0025 a0001c0002t0045g0042 a0001c0004t0003g0051 a0001c0011t0002g0019 a0001c0012t0060g0107 a0001c0013t0053g0069 a0001c0014t0040g0112 a0001c0019t0002g0012 a0002c0003t0007g0094 a0002c0003t0007g0096 a0002c0003t0011g0102 a0003c0005t0014g0022 a0003c0005t0014g0023 a0003c0005t0014g0024 a0004c0007t0022g0067 a0004c0007t0022g0185 a0005c0010t0005g0083 a0007c0016t0002g0114 a0008c0009t0003g0129 a0009c0017t0038g0100	165	293	0.5631	17	c.808 others(34): Show c.808+1116_808+1132dupGATCCCTTCCCCAGCAC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	462758	A A	ATCCCTTC others(10): Show ATCCCTTCCCCAGCACCG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0011 a0001c0001t0016g0011	1	294	0.0034	17	c.808 others(34): Show c.808+1278_808+1294dupGTCCCTTCCCCAGCACC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	462918	T T	TCCCAGCA others(10): Show TCCCAGCACGATCCCTTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03041.hp1 HG02257.hp2 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0059 a0001c0008t0058 a0001c0006t0059 a0001c0008t0058	a0001c0006t0059g0111 a0001c0008t0058g0113 a0001c0006t0059g0111 a0001c0008t0058g0113	2	294	0.0068	17	c.808 others(34): Show c.808+1434_808+1435insCTTCCCCAGCACGATCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	480286	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0135 a0001c0001t0015g0135	1	127	0.0079	17	c.904 others(34): Show c.904-2235_904-2219dupAAAAAAAAAAAAAAAAA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	480286	C C	CAAAAAAA others(10): Show CAAAAAAAAGAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp2 HG01891.hp1 others(5): Show HG01106.hp1 HG01109.hp2 HG01891.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG03139.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 others(4): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0023 a0001c0001t0025 a0001c0001t0043 a0001c0002t0019	a0001c0001t0010g0029 a0001c0001t0010g0046 a0001c0001t0011g0110 others(5): Show a0001c0001t0010g0029 a0001c0001t0010g0046 a0001c0001t0011g0110 a0001c0001t0012g0104 a0001c0001t0023g0103 a0001c0001t0025g0021 a0001c0001t0043g0085 a0001c0002t0019g0285	8	134	0.0597	17	c.904 others(34): Show c.904-2231_904-2230insGAAAAAAAAAAAAAAAA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504057	T T	TCCTTGTG others(10): Show TCCTTGTGTACCCCCTCA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18984.hp2 NA19004.hp2 others(2): Show NA18967.hp2 NA18984.hp2 NA19004.hp2 NA19012.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0052 a0001c0001t0008 a0001c0001t0011 a0001c0001t0052	a0001c0001t0008g0062 a0001c0001t0008g0064 a0001c0001t0008g0068 others(2): Show a0001c0001t0008g0062 a0001c0001t0008g0064 a0001c0001t0008g0068 a0001c0001t0011g0179 a0001c0001t0052g0063	5	294	0.0170	17	c.139 others(34): Show c.1395+963_1395+964insTGTGTACCCCCTCACCT	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP4_chr17_31386675_31543211	31448392	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02080.hp1 HG02300.hp2 others(7): Show HG00544.hp2 HG02080.hp1 HG02300.hp2 HG02451.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 NA18966.hp1 NA18994.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0018 others(1): Show a0001c0001 a0001c0002 a0001c0018 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0002t0009 a0001c0002t0034 a0001c0018t0015 a0002c0006t0002 a0002c0006t0011	a0001c0001t0001g0018 a0001c0001t0002g0193 a0001c0001t0002g0292 others(7): Show a0001c0001t0001g0018 a0001c0001t0002g0193 a0001c0001t0002g0292 a0001c0001t0005g0252 a0001c0001t0011g0001 a0001c0002t0009g0130 a0001c0002t0034g0288 a0001c0018t0015g0045 a0002c0006t0002g0154 a0002c0006t0011g0153	10	105	0.0952	17	c.336 others(36): Show c.336+14273_336+14289dupTTTTTTTTTTTTTTTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB15_chr14_64940816_64977336	64973893	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03195.hp1 HG03654.hp2 HG01891.hp1 HG03195.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0002t0005 a0001c0001t0003 a0001c0001t0009 a0001c0002t0005	a0001c0001t0003g0191 a0001c0001t0009g0203 a0001c0002t0005g0089 a0001c0001t0003g0191 a0001c0001t0009g0203 a0001c0002t0005g0089	3	135	0.0222	17	c.-18 others(28): Show c.-1818_-1817insTTTTTTTTTTTTTTTTT	RAB15	ENSG00000139998.16	transcript	ENST00000533601.7	protein_coding		1558		chr14	TogoVar
RAB18_chr10_27499304_27547239	27546498	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02970.hp2 HG03041.hp2 others(1): Show HG02615.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0049 a0002c0002t0008 a0001c0001t0004 a0001c0001t0049 a0002c0002t0008	a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0049g0229 others(1): Show a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0049g0229 a0002c0002t0008g0197	4	12	0.3333	17	c.84 others(28): Show c.8447_*8448insTTTTTTTTTTTTTTTTT	RAB18	ENSG00000099246.18	transcript	ENST00000356940.11	protein_coding		4260		chr10	TogoVar
RAB19_chr7_140399058_140432974	140424942	C C	CAGGAAAT others(10): Show CAGGAAATCAAAGGCAAA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	440	0.0023	17	c.386 others(32): Show c.386-937_386-936insAAATCAAAGGCAAAAGG	RAB19	ENSG00000146955.11	transcript	ENST00000537763.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
RAB1A_chr2_65081854_65135106	65103299	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20300.hp2 HG03130.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0151 a0001c0001t0002g0023 a0001c0001t0001g0151 a0001c0001t0002g0023	2	279	0.0072	17	c.96+ others(32): Show c.96+1434_96+1435insTTTTTTTTTTTTTTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	2/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65103299	C C	CCAAAAAA others(10): Show CCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	278	0.0036	17	c.96+ others(32): Show c.96+1434_96+1435insTTTTTTTTTTTTTTTTG	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	2/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65103304	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(109): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01515.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02451.hp2 HG02572.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18966.hp2 NA18970.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18991.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19070.hp2 NA19072.hp1 NA19079.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19240.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0098 others(105): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0003t0001g0149 a0001c0003t0001g0158	112	271	0.4133	17	c.96+ others(32): Show c.96+1429_96+1430insGTTTTTTTTTTTTTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	2/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65103304	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAACAAAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02257.hp2 others(13): Show HG01891.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 NA19043.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0127 a0001c0001t0001g0145 a0001c0001t0001g0146 others(13): Show a0001c0001t0001g0127 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0004g0318	16	175	0.0914	17	c.96+ others(32): Show c.96+1429_96+1430insGTTTGTTTTTTTTTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	2/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65103304	A A	AAAAAAAA others(10): Show AAAAAAAAAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01175.hp1 HG01928.hp2 others(9): Show HG00642.hp1 HG01175.hp1 HG01928.hp2 HG01978.hp2 HG01981.hp1 NA18982.hp1 NA19006.hp2 NA19010.hp1 NA19064.hp1 NA19081.hp2 NA19087.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0131 a0001c0001t0001g0140 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0170 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0220 a0001c0001t0001g0259	12	171	0.0702	17	c.96+ others(32): Show c.96+1429_96+1430insGTTTTGTTTTTTTTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	2/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65103304	A A	AAAAAAAA others(10): Show AAAAAAAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp2 HG02895.hp1 others(1): Show HG02559.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0268 a0001c0001t0003g0125 a0001c0001t0003g0254 others(1): Show a0001c0001t0001g0268 a0001c0001t0003g0125 a0001c0001t0003g0254 a0001c0001t0003g0255	4	163	0.0245	17	c.96+ others(32): Show c.96+1429_96+1430insGTTTGTTTGTTTTTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	2/5			chr2	TogoVar
RAB20_chr13_110518066_110566722	110520055	T T	TATCCGTG others(10): Show TATCCGTGTGCTGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0384 a0002c0009t0001g0384	1	424	0.0024	17	c.36 others(28): Show c.3609_*3610insCCCCCCAGCACACGGAT	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding		3010		chr13	TogoVar
RAB21_chr12_71749863_71805286	71753353	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA19043.hp2 NA20129.hp1 NA18522.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0039 a0001c0001t0023 a0001c0001t0039	a0001c0001t0023g0025 a0001c0001t0023g0049 a0001c0001t0039g0051 a0001c0001t0023g0025 a0001c0001t0023g0049 a0001c0001t0039g0051	3	20	0.1500	17	c.-17 others(28): Show c.-1777_-1776insTTTTTTTTTTTTTTTTT	RAB21	ENSG00000080371.6	transcript	ENST00000261263.5	protein_coding		1509		chr12	TogoVar
RAB2A_chr8_60511987_60628644	60526056	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	282	0.0035	17	c.46+ others(32): Show c.46+8804_46+8805insTATATATATATATATAA	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB2A_chr8_60511987_60628644	60538945	A A	ATTTAATG others(10): Show ATTTAATGCAGTCATATT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	356	0.0028	17	c.47- others(34): Show c.47-19904_47-19888dupTAATGCAGTCATATTTT	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB2A_chr8_60511987_60628644	60552001	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19002.hp1 NA19091.hp1 NA18967.hp2 NA19002.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0054 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0054	3	238	0.0126	17	c.47- others(32): Show c.47-6848_47-6832dupTTTTTTTTTTTTTTTTT	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB35_chr12_120090099_120121753	120110290	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01993.hp2 HG01884.hp1 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0225 a0001c0001t0004g0305 a0001c0001t0001g0225 a0001c0001t0004g0305	2	31	0.0645	17	c.53- others(32): Show c.53-1824_53-1823insAAAAAAAAAAAAAAAAA	RAB35	ENSG00000111737.12	transcript	ENST00000229340.10	protein_coding	1/5			chr12	TogoVar
RAB3B_chr1_51902956_51995700	51967521	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02258.hp2 HG02280.hp1 others(6): Show HG01167.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02647.hp1 HG02886.hp1 HG02897.hp1 HG03834.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0001t0029 a0001c0001t0038 a0001c0002t0032	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 others(6): Show a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0003g0044 a0001c0001t0006g0043 a0001c0001t0015g0026 a0001c0001t0029g0016 a0001c0001t0038g0041 a0001c0002t0032g0048	9	24	0.3750	17	c.228 others(34): Show c.228+9352_228+9368dupAAAAAAAAAAAAAAAAA	RAB3B	ENSG00000169213.7	transcript	ENST00000371655.4	protein_coding	2/4			chr1	TogoVar
RAB3C_chr5_58578075_58864394	58596699	T T	TATATAAA others(10): Show TATATAAATATATAATAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02486.hp1 HG02895.hp1 others(5): Show HG01168.hp1 HG02486.hp1 HG02895.hp1 HG02896.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0052 a0001c0001t0083 a0001c0002t0011	a0001c0001t0002g0126 a0001c0001t0003g0122 a0001c0001t0006g0128 others(5): Show a0001c0001t0002g0126 a0001c0001t0003g0122 a0001c0001t0006g0128 a0001c0001t0006g0173 a0001c0001t0008g0124 a0001c0001t0052g0127 a0001c0001t0083g0123 a0001c0002t0011g0125	8	186	0.0430	17	c.24+ others(34): Show c.24+13469_24+13470insATAAATATATAATACAT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58797353	A A	ATATGTAT others(10): Show ATATGTATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	162	0.0062	17	c.372 others(36): Show c.372-27685_372-27684insTATGTATATATATATAT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	3/4			chr5	TogoVar
RAB3GAP2_chr1_220143293_220277453	220214946	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0319 a0001c0001t0003g0319	1	8	0.1250	17	c.181 others(32): Show c.181-968_181-967insTATATATATATATATAT	RAB3GAP2	ENSG00000118873.17	transcript	ENST00000358951.7	protein_coding	2/34			chr1	TogoVar
RAB44_chr6_36692826_36738184	36723836	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	220	0.0045	17	c.259 others(36): Show c.2599+1105_2599+1121dupAAAAAAAAAAAAAAAAA	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB4A_chr1_229266111_229310894	229302309	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	247	0.0040	17	c.542 others(32): Show c.542-537_542-536insTTTTTTTTTTTTTTTTT	RAB4A	ENSG00000168118.12	transcript	ENST00000366690.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB4B_chr19_40773247_40801942	40782489	G G	GAACAAAC others(10): Show GAACAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0289 a0001c0002t0001g0289	1	382	0.0026	17	c.213 others(34): Show c.213-1287_213-1286insCAAACAAAACAAAACAA	RAB4B	ENSG00000167578.18	transcript	ENST00000357052.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
RAB4B_chr19_40773247_40801942	40792630	A A	ACCAGTAT others(10): Show ACCAGTATTCTTTACCAC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	382	0.0026	17	c.16 others(34): Show c.16-3928_*16-3927insACCACCCAGTATTCTTT	RAB4B	ENSG00000167578.18	transcript	ENST00000357052.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
RAB6A_chr11_73670638_73766074	73697401	G G	GCTCACTG others(10): Show GCTCACTGCAACCTCCGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	352	0.0028	17	c.495 others(36): Show c.495+10002_495+10018dupGCGGAGGTTGCAGTGAG	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73714207	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0222 a0001c0001t0005g0222	1	295	0.0034	17	c.401 others(34): Show c.401+2043_401+2044insATATATATATATATATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	5/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739282	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	253	0.0040	17	c.71- others(32): Show c.71-8460_71-8459insATATATATATATATATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03688.hp1 HG00609.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0296 a0001c0001t0002g0283 a0001c0001t0002g0296	2	56	0.0357	17	c.71- others(32): Show c.71-8462_71-8461insATATATATATATTTTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA18969.hp2 HG01123.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0282 a0001c0001t0002g0279 a0001c0001t0002g0282	2	56	0.0357	17	c.71- others(32): Show c.71-8462_71-8461insATATATATATATATTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG04184.hp1 NA19056.hp2 HG01106.hp2 HG04184.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0001 a0001c0001t0002 a0001c0001t0015	a0001c0001t0001g0135 a0001c0001t0002g0269 a0001c0001t0015g0049 a0001c0001t0001g0135 a0001c0001t0002g0269 a0001c0001t0015g0049	3	57	0.0526	17	c.71- others(32): Show c.71-8462_71-8461insATATATATATATATATT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar

Search by Variant

Search

Search Results