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
ETV5_chr3_186041314_186114089	186085102	CAAGGCTC others(18): Show CAAGGCTCAAAGTCACTTGCCACGTA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(174): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0002c0002 a0003c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0003t0004 a0001c0004t0013 a0001c0006t0026 a0002c0002t0013 a0002c0002t0028 a0003c0008t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(148): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0203 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0003g0017 a0001c0001t0003g0038 a0001c0001t0003g0151 a0001c0001t0004g0007 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0005g0024 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0200 a0001c0001t0005g0211 a0001c0001t0005g0215 a0001c0001t0005g0230 a0001c0001t0005g0242 a0001c0001t0005g0246 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0262 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0265 a0001c0001t0005g0266 a0001c0001t0005g0269 a0001c0001t0005g0279 a0001c0001t0005g0281 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0006g0025 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0196 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0006g0206 a0001c0001t0006g0208 a0001c0001t0006g0209 a0001c0001t0006g0270 a0001c0001t0007g0021 a0001c0001t0007g0165 a0001c0001t0012g0207 a0001c0001t0012g0210 a0001c0001t0015g0168 a0001c0001t0015g0187 a0001c0001t0016g0033 a0001c0001t0020g0150 a0001c0001t0022g0049 a0001c0001t0023g0154 a0001c0001t0024g0186 a0001c0001t0025g0166 a0001c0001t0027g0218 a0001c0001t0030g0254 a0001c0003t0004g0153 a0001c0004t0013g0205 a0001c0006t0026g0225 a0002c0002t0013g0228 a0002c0002t0013g0229 a0002c0002t0028g0227 a0003c0008t0002g0240	177	338	0.5237	-25	c.233 others(42): Show c.233-3952_233-3928delTACGTGGCAAGTGACTTTGAGCCTT	ETV5	ENSG00000244405.8	transcript	ENST00000306376.10	protein_coding	5/12			chr3	TogoVar
EVI5_chr1_92503696_92790108	92683176	CTTCTGAA others(18): Show CTTCTGAATTCTAATTCAGAAATTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02922.hp2 HG02572.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0056 a0001c0001t0025g0057 a0001c0001t0025g0056 a0001c0001t0025g0057	2	166	0.0120	-25	c.109 others(44): Show c.1098-5983_1098-5959delAAAATTTCTGAATTAGAATTCAGAA	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	9/19			chr1	TogoVar
EXD3_chr9_137301896_137428162	137355048	GAGTTTCC others(18): Show GAGTTTCCTTCTTGGCGTTGGCATCT	G G	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	80	0.0125	-25	c.758 others(40): Show c.758-300_758-276delAGATGCCAACGCCAAGAAGGAAACT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137387138	TTCCCTGC others(18): Show TTCCCTGCCTGGCCCTCGGCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00741.hp1 others(24): Show HG00099.hp2 HG00280.hp2 HG00741.hp1 HG01069.hp2 HG01884.hp1 HG01884.hp2 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 NA18522.hp2 NA18999.hp2 NA19066.hp1	a0002 a0003 a0005 others(16): Show a0002 a0003 a0005 a0006 a0008 a0009 a0010 a0015 a0016 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030	a0002c0002 a0003c0003 a0005c0007 others(18): Show a0002c0002 a0003c0003 a0005c0007 a0005c0009 a0006c0018 a0008c0008 a0009c0013 a0009c0020 a0010c0006 a0015c0022 a0016c0019 a0021c0027 a0022c0030 a0023c0024 a0024c0036 a0025c0014 a0026c0035 a0027c0017 a0028c0023 a0029c0029 a0030c0026	a0002c0002t0001 a0003c0003t0001 a0005c0007t0001 others(18): Show a0002c0002t0001 a0003c0003t0001 a0005c0007t0001 a0005c0009t0001 a0006c0018t0001 a0008c0008t0001 a0009c0013t0001 a0009c0020t0001 a0010c0006t0001 a0015c0022t0001 a0016c0019t0001 a0021c0027t0001 a0022c0030t0001 a0023c0024t0001 a0024c0036t0001 a0025c0014t0001 a0026c0035t0001 a0027c0017t0001 a0028c0023t0001 a0029c0029t0001 a0030c0026t0001	a0002c0002t0001g0011 a0002c0002t0001g0036 a0003c0003t0001g0025 others(24): Show a0002c0002t0001g0011 a0002c0002t0001g0036 a0003c0003t0001g0025 a0003c0003t0001g0037 a0003c0003t0001g0041 a0003c0003t0001g0068 a0005c0007t0001g0002 a0005c0007t0001g0023 a0005c0009t0001g0065 a0006c0018t0001g0029 a0008c0008t0001g0012 a0008c0008t0001g0013 a0009c0013t0001g0039 a0009c0020t0001g0005 a0010c0006t0001g0008 a0015c0022t0001g0038 a0016c0019t0001g0022 a0021c0027t0001g0064 a0022c0030t0001g0015 a0023c0024t0001g0049 a0024c0036t0001g0003 a0025c0014t0001g0075 a0026c0035t0001g0040 a0027c0017t0001g0007 a0028c0023t0001g0004 a0029c0029t0001g0024 a0030c0026t0001g0033	27	80	0.3375	-25	c.56- others(40): Show c.56-3786_56-3762delGCGGGGGCCGAGGGCCAGGCAGGGA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	2/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137398518	TGTCCCCA others(18): Show TGTCCCCAAGACACACAGGCAACCGC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp1 HG03041.hp1 HG02280.hp1 HG02647.hp1 HG03041.hp1	a0011 a0022 a0024 a0011 a0022 a0024	a0011c0012 a0022c0030 a0024c0036 a0011c0012 a0022c0030 a0024c0036	a0011c0012t0001 a0022c0030t0001 a0024c0036t0001 a0011c0012t0001 a0022c0030t0001 a0024c0036t0001	a0011c0012t0001g0046 a0022c0030t0001g0015 a0024c0036t0001g0003 a0011c0012t0001g0046 a0022c0030t0001g0015 a0024c0036t0001g0003	3	80	0.0375	-25	c.-47 others(42): Show c.-47-3139_-47-3115delGCGGTTGCCTGTGTGTCTTGGGGAC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	1/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137398710	TGCACCCG others(18): Show TGCACCCGCATCCCCAAGACACACAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01256.hp2 others(13): Show HG00099.hp2 HG00741.hp1 HG01256.hp2 HG01258.hp2 HG01993.hp2 HG02615.hp1 HG02683.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03688.hp1 HG03688.hp2 NA18999.hp2 NA19066.hp1	a0002 a0003 a0004 others(8): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0026 a0027 a0030	a0002c0002 a0003c0003 a0004c0004 others(8): Show a0002c0002 a0003c0003 a0004c0004 a0005c0021 a0006c0018 a0007c0010 a0008c0008 a0009c0013 a0026c0035 a0027c0017 a0030c0026	a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 others(8): Show a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0021t0001 a0006c0018t0001 a0007c0010t0001 a0008c0008t0001 a0009c0013t0001 a0026c0035t0001 a0027c0017t0001 a0030c0026t0001	a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(13): Show a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0056 a0003c0003t0001g0025 a0003c0003t0001g0037 a0003c0003t0001g0041 a0004c0004t0001g0058 a0005c0021t0001g0070 a0006c0018t0001g0029 a0007c0010t0001g0021 a0008c0008t0001g0012 a0009c0013t0001g0039 a0026c0035t0001g0040 a0027c0017t0001g0007 a0030c0026t0001g0033	16	80	0.2000	-25	c.-47 others(42): Show c.-47-3331_-47-3307delCTGTGTGTCTTGGGGATGCGGGTGC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	1/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137398751	AGACACAC others(18): Show AGACACACAGGCACCCGCGTCCCCGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01884.hp1 others(15): Show HG00280.hp1 HG00323.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG02004.hp1 HG02615.hp2 HG02647.hp2 HG02896.hp1 HG02896.hp2 HG02976.hp2 HG03017.hp1 HG03209.hp2 HG03669.hp2 NA18522.hp1 NA18522.hp2 NA19007.hp2 NA19043.hp2	a0001 a0005 a0006 others(13): Show a0001 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0015 a0016 a0018 a0019 a0025 a0028 a0029	a0001c0001 a0005c0007 a0005c0009 others(14): Show a0001c0001 a0005c0007 a0005c0009 a0006c0005 a0007c0010 a0009c0020 a0010c0006 a0011c0012 a0012c0011 a0013c0028 a0015c0022 a0016c0019 a0018c0016 a0019c0033 a0025c0014 a0028c0023 a0029c0029	a0001c0001t0001 a0005c0007t0001 a0005c0009t0001 others(14): Show a0001c0001t0001 a0005c0007t0001 a0005c0009t0001 a0006c0005t0001 a0007c0010t0001 a0009c0020t0001 a0010c0006t0001 a0011c0012t0001 a0012c0011t0001 a0013c0028t0001 a0015c0022t0001 a0016c0019t0001 a0018c0016t0001 a0019c0033t0001 a0025c0014t0001 a0028c0023t0001 a0029c0029t0001	a0001c0001t0001g0071 a0005c0007t0001g0002 a0005c0007t0001g0023 others(15): Show a0001c0001t0001g0071 a0005c0007t0001g0002 a0005c0007t0001g0023 a0005c0009t0001g0014 a0006c0005t0001g0053 a0007c0010t0001g0080 a0009c0020t0001g0005 a0010c0006t0001g0047 a0011c0012t0001g0006 a0012c0011t0001g0020 a0013c0028t0001g0081 a0015c0022t0001g0038 a0016c0019t0001g0022 a0018c0016t0001g0019 a0019c0033t0001g0017 a0025c0014t0001g0075 a0028c0023t0001g0004 a0029c0029t0001g0024	18	80	0.2250	-25	c.-47 others(42): Show c.-47-3372_-47-3348delACGGGGACGCGGGTGCCTGTGTGTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	1/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501439	ATATATAT others(18): Show ATATATATCTATATATTATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp2 HG03041.hp2 others(3): Show HG02615.hp2 HG02818.hp2 HG03041.hp2 HG03516.hp1 HG06807.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 others(2): Show a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 a0001c0004t0002 a0002c0005t0002	a0001c0001t0003g0039 a0001c0003t0002g0020 a0001c0003t0002g0226 others(3): Show a0001c0001t0003g0039 a0001c0003t0002g0020 a0001c0003t0002g0226 a0001c0003t0003g0170 a0001c0004t0002g0156 a0002c0005t0002g0152	6	270	0.0222	-25	c.238 others(44): Show c.2381-1764_2381-1740delGATATATATAATATATAGATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC3L2_chr19_45207370_45250407	45229188	AATTAAAT others(18): Show AATTAAATATATACATATATTTATGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00642.hp2 others(21): Show HG00140.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG01081.hp2 HG01255.hp2 HG01346.hp1 HG01515.hp2 HG01978.hp2 HG02004.hp2 HG02071.hp2 HG02109.hp2 HG02257.hp1 HG02523.hp2 HG02738.hp1 HG02976.hp1 HG03017.hp1 HG03704.hp1 NA18906.hp1 NA18942.hp2 NA18977.hp1 NA19005.hp1 NA19005.hp2 NA20300.hp2	a0001 a0003 a0012 others(2): Show a0001 a0003 a0012 a0013 a0016	a0001c0001 a0001c0002 a0001c0017 others(6): Show a0001c0001 a0001c0002 a0001c0017 a0001c0029 a0001c0033 a0003c0004 a0012c0018 a0013c0031 a0016c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0005 a0001c0017t0004 a0001c0029t0001 a0001c0033t0001 a0003c0004t0003 a0012c0018t0001 a0013c0031t0001 a0016c0022t0004	a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0044 others(20): Show a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0196 a0001c0001t0001g0210 a0001c0001t0001g0279 a0001c0001t0002g0089 a0001c0001t0002g0132 a0001c0001t0002g0225 a0001c0001t0003g0046 a0001c0001t0003g0054 a0001c0002t0005g0081 a0001c0017t0004g0311 a0001c0029t0001g0067 a0001c0033t0001g0310 a0003c0004t0003g0328 a0012c0018t0001g0312 a0013c0031t0001g0237 a0016c0022t0004g0136	24	239	0.1004	-25	c.127 others(42): Show c.1270-947_1270-923delACATAAATATATGTATATATTTAAT	EXOC3L2	ENSG00000283632.4	transcript	ENST00000413988.3	protein_coding	4/11			chr19	TogoVar
EXOC4_chr7_133248078_134070761	133558189	CTCTTTTC others(18): Show CTCTTTTCTTTTCTTTTCTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03540.hp1 NA19010.hp1 HG02280.hp2 HG03540.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0019 a0001c0006t0010 a0001c0001t0001 a0001c0001t0019 a0001c0006t0010	a0001c0001t0001g0068 a0001c0001t0019g0085 a0001c0006t0010g0084 a0001c0001t0001g0068 a0001c0001t0019g0085 a0001c0006t0010g0084	3	42	0.0714	-25	c.141 others(46): Show c.1418-71813_1418-71789delTTTTCTTTTCTTTTCTTTTCTTTT C	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133810591	CTTTGCTT others(18): Show CTTTGCTTTATTTTATTTTATTTTAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0043 a0001c0005t0011g0043	1	70	0.0143	-25	c.151 others(44): Show c.1515-6730_1515-6706delGCTTTATTTTATTTTATTTTATTTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6_chr10_92843520_93064490	92896169	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	286	0.0035	-25	c.412 others(42): Show c.412+1151_412+1175delATATATATATATTTTTTTTTTTTTT	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOG_chr3_38491340_38531303	38492732	ACACACAC others(18): Show ACACACACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	410	0.0024	-25	c.-36 others(36): Show c.-3635_-3611delCACACACACACACACACACACACAC	EXOG	ENSG00000157036.13	transcript	ENST00000287675.10	protein_coding		3607		chr3	TogoVar
EXOSC10_chr1_11061618_11104869	11090888	CTGGGCTC others(18): Show CTGGGCTCCCTTTGAACAAAGGAGGG	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02486.hp1 HG01515.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0116 a0001c0001t0001g0023 a0001c0001t0001g0116	2	282	0.0071	-25	c.643 others(40): Show c.643+101_643+125delCCCTCCTTTGTTCAAAGGGAGCCCA	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	5/24			chr1	TogoVar
EXT1_chr8_117789490_118116826	117932867	TAGAGCTG others(18): Show TAGAGCTGGCTGCCAGGGCAGCACTC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp1 HG02055.hp1 others(16): Show HG01074.hp1 HG01243.hp1 HG02055.hp1 HG02258.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0013	a0001c0001t0006 a0001c0001t0015 a0001c0001t0016 others(12): Show a0001c0001t0006 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0023 a0001c0001t0032 a0001c0001t0043 a0001c0001t0069 a0001c0002t0028 a0001c0003t0017 a0001c0003t0025 a0001c0003t0062 a0001c0003t0070 a0001c0007t0014 a0001c0013t0018	a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0006g0156 others(16): Show a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0006g0156 a0001c0001t0015g0084 a0001c0001t0016g0044 a0001c0001t0016g0075 a0001c0001t0018g0078 a0001c0001t0023g0168 a0001c0001t0032g0011 a0001c0001t0043g0073 a0001c0001t0069g0182 a0001c0002t0028g0010 a0001c0003t0017g0186 a0001c0003t0025g0183 a0001c0003t0025g0184 a0001c0003t0062g0167 a0001c0003t0070g0185 a0001c0007t0014g0012 a0001c0013t0018g0163	19	190	0.1000	-25	c.963 others(44): Show c.963-95691_963-95667delGAGTGCTGCCCTGGCAGCCAGCTCT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117973800	AGAAAGGA others(18): Show AGAAAGGAAAGGAAAGGAAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02074.hp1 others(3): Show HG01243.hp1 HG02055.hp2 HG02074.hp1 HG02129.hp1 HG02818.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0023 a0001c0001t0035 a0001c0001t0061 others(3): Show a0001c0001t0023 a0001c0001t0035 a0001c0001t0061 a0001c0002t0007 a0001c0002t0036 a0001c0002t0058	a0001c0001t0023g0168 a0001c0001t0035g0017 a0001c0001t0061g0169 others(3): Show a0001c0001t0023g0168 a0001c0001t0035g0017 a0001c0001t0061g0169 a0001c0002t0007g0099 a0001c0002t0036g0018 a0001c0002t0058g0104	6	104	0.0577	-25	c.962 others(46): Show c.962+136260_962+136284delCTTTCCTTTCCTTTCCTTTCCTTT C	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118073632	AAGAAGAG others(18): Show AAGAAGAGAAGAGAAGAGAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01952.hp1 HG00609.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0053 a0001c0005t0002g0112 a0001c0001t0002g0053 a0001c0005t0002g0112	2	78	0.0256	-25	c.962 others(44): Show c.962+36428_962+36452delCTTCTCTTCTCTTCTCTTCTCTTCT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EYA3_chr1_27965344_28093610	28084579	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18995.hp1 NA19070.hp2 HG02135.hp1 NA18995.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0339 a0001c0001t0004g0346 a0001c0001t0004g0386 a0001c0001t0004g0339 a0001c0001t0004g0346 a0001c0001t0004g0386	3	367	0.0082	-25	c.-69 others(42): Show c.-69+3920_-69+3944delAAAAAAAAATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYS_chr6_63714980_65712226	64706371	ATCAGAAA others(18): Show ATCAGAAAAACCTTTCTAGACATTGG	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp2 HG02622.hp2 others(7): Show HG01169.hp1 HG01169.hp2 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0014 a0015 a0016 a0017 a0021	a0001c0019 a0002c0012 a0003c0008 others(7): Show a0001c0019 a0002c0012 a0003c0008 a0003c0021 a0004c0024 a0014c0003 a0015c0004 a0016c0022 a0017c0014 a0021c0007	a0001c0019t0001 a0002c0012t0002 a0003c0008t0002 others(7): Show a0001c0019t0001 a0002c0012t0002 a0003c0008t0002 a0003c0021t0001 a0004c0024t0001 a0014c0003t0001 a0015c0004t0002 a0016c0022t0001 a0017c0014t0001 a0021c0007t0001	a0001c0019t0001g0006 a0002c0012t0002g0021 a0003c0008t0002g0020 others(7): Show a0001c0019t0001g0006 a0002c0012t0002g0021 a0003c0008t0002g0020 a0003c0021t0001g0008 a0004c0024t0001g0001 a0014c0003t0001g0016 a0015c0004t0002g0024 a0016c0022t0001g0011 a0017c0014t0001g0005 a0021c0007t0001g0009	10	24	0.4167	-25	c.344 others(46): Show c.3444-80151_3444-80127delCCAATGTCTAGAAAGGTTTTTCTG A	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
FAAP100_chr17_81534891_81557353	81542185	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01168.hp1 HG01169.hp1 others(1): Show HG01123.hp1 HG01168.hp1 HG01169.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0005	a0001c0001t0001g0002 a0002c0002t0005g0009 a0001c0001t0001g0002 a0002c0002t0005g0009	4	431	0.0093	-25	c.242 others(42): Show c.2428-815_2428-791delATATATATATTTTTTTTTTTTTTTT	FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding	7/8			chr17	TogoVar
FAAP100_chr17_81534891_81557353	81542187	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00642.hp1 others(24): Show HG00140.hp1 HG00280.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01099.hp1 HG01243.hp2 HG01255.hp2 HG01891.hp1 HG01943.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02698.hp1 HG02895.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03704.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp1 NA19240.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0020 a0001c0001 a0001c0015 a0001c0020	a0001c0001t0001 a0001c0001t0002 a0001c0015t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0015t0001 a0001c0020t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0063 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0169 a0001c0001t0002g0124 a0001c0015t0001g0108 a0001c0020t0001g0062	27	420	0.0643	-25	c.242 others(42): Show c.2428-817_2428-793delATATATATATATTTTTTTTTTTTTT	FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding	7/8			chr17	TogoVar
FAAP100_chr17_81534891_81557353	81542189	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG01081.hp2 others(9): Show HG00099.hp2 HG00733.hp2 HG01081.hp2 HG01192.hp1 HG01261.hp1 HG01361.hp1 HG02280.hp1 HG03017.hp1 HG03453.hp2 HG03540.hp1 HG03704.hp2 HG03927.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0026 a0001c0001 a0012c0026	a0001c0001t0001 a0012c0026t0001 a0001c0001t0001 a0012c0026t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0022 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0091 a0012c0026t0001g0172	12	394	0.0305	-25	c.242 others(42): Show c.2428-819_2428-795delATATATATATATATTTTTTTTTTTT	FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding	7/8			chr17	TogoVar
FABP6_chr5_160224506_160243716	160229821	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02738.hp1 HG03139.hp1 others(28): Show HG01884.hp2 HG02738.hp1 HG03139.hp1 HG03195.hp2 HG03516.hp2 HG03942.hp2 HG04115.hp2 NA18944.hp1 NA18951.hp1 NA18951.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18971.hp1 NA18972.hp1 NA18985.hp1 NA18985.hp2 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19001.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19079.hp1 NA19240.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0062 a0001c0001t0001g0063 others(14): Show a0001c0001t0001g0009 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0002c0002t0001g0039 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195	31	35	0.8857	-25	c.67+ others(38): Show c.67+242_67+266delATTTTATTTTATTTTATTTTATTTT	FABP6	ENSG00000170231.16	transcript	ENST00000402432.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
FABP6_chr5_160224506_160243716	160237364	GGAACACA others(18): Show GGAACACACACATGTATGCACATAGA	G G	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	474	0.0021	-25	c.334 others(42): Show c.334-1241_334-1217delGAACACACACATGTATGCACATAGA	FABP6	ENSG00000170231.16	transcript	ENST00000402432.4	protein_coding	3/3			chr5	TogoVar
FAF1_chr1_50432028_50965267	50490469	AGAAGGAA others(18): Show AGAAGGAAGGAAGGAAGGAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0068 a0001c0001t0004g0068	1	177	0.0056	-25	c.165 others(41): Show c.1653+94_1653+118delCTTTCCTTCCTTCCTTCCTTCCTTC	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	17/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50558202	ATATCTTA others(18): Show ATATCTTATTTTTAGAATAAGATATT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp1 HG01175.hp2 others(41): Show HG00544.hp1 HG00741.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG02027.hp1 HG02040.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03831.hp2 HG06807.hp1 HG06807.hp2 NA18942.hp2 NA19058.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(20): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0002t0006 a0001c0002t0018 a0001c0003t0007	a0001c0001t0001g0095 a0001c0001t0001g0162 a0001c0001t0001g0165 others(41): Show a0001c0001t0001g0095 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0005g0170 a0001c0001t0007g0054 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0074 a0001c0001t0007g0075 a0001c0001t0009g0176 a0001c0001t0010g0178 a0001c0001t0010g0181 a0001c0001t0010g0182 a0001c0001t0010g0183 a0001c0001t0012g0002 a0001c0001t0012g0007 a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0013g0163 a0001c0001t0013g0164 a0001c0001t0013g0167 a0001c0001t0020g0117 a0001c0001t0020g0180 a0001c0001t0022g0078 a0001c0001t0023g0010 a0001c0001t0028g0073 a0001c0001t0031g0179 a0001c0001t0033g0122 a0001c0001t0034g0171 a0001c0001t0035g0169 a0001c0001t0036g0120 a0001c0001t0039g0168 a0001c0001t0040g0008 a0001c0001t0041g0013 a0001c0001t0042g0009 a0001c0002t0006g0046 a0001c0002t0018g0045 a0001c0002t0018g0047 a0001c0003t0007g0072	44	188	0.2340	-25	c.126 others(44): Show c.1268+8850_1268+8874delAATATCTTATTCTAAAAATAAGATA	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50746267	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02922.hp2 others(2): Show HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03098.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0001t0039	a0001c0001t0001g0162 a0001c0001t0002g0125 a0001c0001t0008g0114 others(2): Show a0001c0001t0001g0162 a0001c0001t0002g0125 a0001c0001t0008g0114 a0001c0001t0013g0167 a0001c0001t0039g0168	5	187	0.0267	-25	c.368 others(42): Show c.368-1517_368-1493delTATATATATATATATATATATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	4/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50746268	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02886.hp2 HG03130.hp1 others(1): Show HG01891.hp1 HG02886.hp2 HG03130.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0028	a0001c0001t0001g0175 a0001c0001t0006g0154 a0001c0001t0013g0164 others(1): Show a0001c0001t0001g0175 a0001c0001t0006g0154 a0001c0001t0013g0164 a0001c0001t0028g0073	4	182	0.0220	-25	c.368 others(42): Show c.368-1518_368-1494delATATATATATATATATATATATATA	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	4/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50746272	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0124 a0001c0001t0015g0124	1	183	0.0055	-25	c.368 others(42): Show c.368-1522_368-1498delAAAAATATATATATATATATATATA	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	4/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50746276	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03139.hp1 HG03209.hp2 HG02717.hp1 HG03139.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0002 a0001c0001t0012g0007 a0001c0001t0012g0012 a0001c0001t0012g0002 a0001c0001t0012g0007 a0001c0001t0012g0012	3	184	0.0163	-25	c.368 others(42): Show c.368-1526_368-1502delAAAAAAAAATATATATATATATATA	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	4/18			chr1	TogoVar
FAM107B_chr10_14513557_14779897	14570731	GGCAGAGG others(18): Show GGCAGAGGTTGCAGTGGGCTAAGACT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG02809.hp2 others(2): Show HG01884.hp2 HG02559.hp1 HG02809.hp2 HG02886.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0014 a0001c0001t0009g0075 others(2): Show a0001c0001t0009g0013 a0001c0001t0009g0014 a0001c0001t0009g0075 a0001c0001t0009g0094 a0001c0001t0009g0144	5	270	0.0185	-25	c.470 others(44): Show c.470-40241_470-40217delAGTCTTAGCCCACTGCAACCTCTGC	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4			chr10	TogoVar
FAM114A1_chr4_38862806_38950739	38880085	AAATAAAA others(18): Show AAATAAAATAAAATAAAATAGAGTAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0030 a0002c0028t0030	a0002c0028t0030g0363 a0002c0028t0030g0363	1	365	0.0027	-25	c.348 others(42): Show c.348+1664_348+1688delAAATAAAATAAAATAGAGTAGAATA	FAM114A1	ENSG00000197712.12	transcript	ENST00000358869.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM114A1_chr4_38862806_38950739	38880107	GTAGAATA others(18): Show GTAGAATAGAATAGAATAGAATAGAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02074.hp1 HG02647.hp2 others(5): Show HG01167.hp2 HG02074.hp1 HG02647.hp2 HG02896.hp1 HG03209.hp2 HG03486.hp1 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0037 a0001c0038 a0001c0043	a0001c0001t0005 a0001c0001t0007 a0001c0002t0014 others(5): Show a0001c0001t0005 a0001c0001t0007 a0001c0002t0014 a0001c0004t0002 a0001c0004t0029 a0001c0037t0003 a0001c0038t0005 a0001c0043t0001	a0001c0001t0005g0005 a0001c0001t0007g0230 a0001c0002t0014g0151 others(5): Show a0001c0001t0005g0005 a0001c0001t0007g0230 a0001c0002t0014g0151 a0001c0004t0002g0004 a0001c0004t0029g0015 a0001c0037t0003g0009 a0001c0038t0005g0011 a0001c0043t0001g0006	8	101	0.0792	-25	c.348 others(42): Show c.348+1727_348+1751delTAGAATAGAATAGAATAGAATAGAA	FAM114A1	ENSG00000197712.12	transcript	ENST00000358869.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM120C_chrX_54063324_54188254	54068789	CAGAATAG others(18): Show CAGAATAGAATAGAATAGAATAGAAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0047 a0005c0005t0047	a0005c0005t0047g0003 a0005c0005t0047g0003	1	87	0.0115	-25	c.42 others(36): Show c.4219_*4243delATTCTATTCTATTCTATTCTATTCT	FAM120C	ENSG00000184083.12	transcript	ENST00000375180.7	protein_coding	16/16	4219		chrX	TogoVar
FAM124A_chr13_51217398_51289239	51271027	ATGTGGCA others(18): Show ATGTGGCAGTGGAAATTCATTCTCTG	A A	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	404	0.0025	-25	c.835 others(42): Show c.835-9422_835-9398delTGTGGCAGTGGAAATTCATTCTCTG	FAM124A	ENSG00000150510.17	transcript	ENST00000322475.13	protein_coding	3/3			chr13	TogoVar
FAM133A_chrX_93669206_93717265	93679915	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp1 HG01074.hp1 others(17): Show HG00733.hp2 HG00741.hp1 HG01074.hp1 HG01361.hp2 HG02683.hp1 HG03669.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 NA18940.hp1 NA18955.hp1 NA18961.hp1 NA18963.hp2 NA18984.hp1 NA18991.hp1 NA18992.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0066 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076	20	52	0.3846	-25	c.-19 others(44): Show c.-193+5182_-193+5206delTTTTTTTTTTTTTTTTTTTTTTTTT	FAM133A	ENSG00000179083.7	transcript	ENST00000683942.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAM135B_chr8_138125023_138502261	138435198	TGAGGCAG others(18): Show TGAGGCAGAGAATTACTTGAACCCGG	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0007 a0003c0001t0007	a0003c0001t0007g0029 a0003c0001t0007g0029	1	210	0.0048	-25	c.-20 others(44): Show c.-20+61448_-20+61472delCCGGGTTCAAGTAATTCTCTGCCTC	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	1/19			chr8	TogoVar
FAM149A_chr4_186099704_186180337	186149948	ACCCTGCA others(18): Show ACCCTGCAGCCGGCTCTCCGGGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0044 a0011c0027t0044	a0011c0027t0044g0200 a0011c0027t0044g0200	1	388	0.0026	-25	c.816 others(40): Show c.816+245_816+269delCCCTGCAGCCGGCTCTCCGGGTGTG	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	3/13			chr4	TogoVar
FAM149B1_chr10_73163119_73249504	73204944	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01433.hp1 HG00642.hp1 HG01433.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0008 a0001c0001t0001 a0004c0007t0008	a0001c0001t0001g0165 a0004c0007t0008g0010 a0001c0001t0001g0165 a0004c0007t0008g0010	2	20	0.1000	-25	c.543 others(42): Show c.543-3647_543-3623delTTTTTTTTTTTTTTTTTTTTTTTTT	FAM149B1	ENSG00000138286.15	transcript	ENST00000242505.11	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
FAM166A_chr9_137238599_137252751	137249961	GTGTGTCT others(18): Show GTGTGTCTGGAGGCCCTGCCCCTATC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	-25	c.-22 others(36): Show c.-2271_-2247delGATAGGGGCAGGGCCTCCAGACACA	FAM166A	ENSG00000188163.8	transcript	ENST00000344774.6	protein_coding		2211		chr9	TogoVar
FAM169A_chr5_74772574_74871387	74786617	CTAAGTTC others(18): Show CTAAGTTCACTGGACAAAGTGATGAA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0259 a0001c0001t0008g0259	1	306	0.0033	-25	c.126 others(44): Show c.1261-3508_1261-3484delTTCATCACTTTGTCCAGTGAACTTA	FAM169A	ENSG00000198780.13	transcript	ENST00000687041.1	protein_coding	11/12			chr5	TogoVar
FAM171A1_chr10_15206643_15376289	15312673	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	11	0.0909	-25	c.98- others(42): Show c.98-28593_98-28569delAAAAAAAAAAAAAAAAAAAAAAAAA	FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	1/7			chr10	TogoVar
FAM171A2_chr17_44348215_44368853	44368126	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	363	0.0028	-25	c.-44 others(36): Show c.-4437_-4413delAAAAATATATATATATATATATATA	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4274		chr17	TogoVar
FAM171A2_chr17_44348215_44368853	44368128	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	348	0.0029	-25	c.-44 others(36): Show c.-4439_-4415delAAAAAAATATATATATATATATATA	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4276		chr17	TogoVar
FAM171A2_chr17_44348215_44368853	44368130	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18971.hp2 NA18972.hp2 NA18946.hp1 NA18971.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0005 a0001c0001t0001g0006	3	374	0.0080	-25	c.-44 others(36): Show c.-4441_-4417delAAAAAAAAATATATATATATATATA	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4278		chr17	TogoVar
FAM171A2_chr17_44348215_44368853	44368134	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	410	0.0024	-25	c.-44 others(36): Show c.-4445_-4421delAAAAAAAAAAAAATATATATATATA	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4282		chr17	TogoVar
FAM171B_chr2_186689060_186770959	186765453	GTATAGGG others(18): Show GTATAGGGATTATGCCCTTTCAGTTC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0003 a0001c0002t0028g0003	1	330	0.0030	-25	c.26 others(36): Show c.2650_*2674delCAGTTCTATAGGGATTATGCCCTTT	FAM171B	ENSG00000144369.14	transcript	ENST00000304698.10	protein_coding	8/8	2650	INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM172A_chr5_93612725_94116663	93653511	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	4	0.2500	-25	c.110 others(46): Show c.1109-32407_1109-32383delTTTTTTTTTTTTTTTTTTTTTTTT T	FAM172A	ENSG00000113391.19	transcript	ENST00000395965.8	protein_coding	10/10			chr5	TogoVar
FAM177A1_chr14_35041272_35088378	35070114	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	26	0.0385	-25	c.340 others(42): Show c.340-7024_340-7000delAAAAAAAAAAAAAAAAAAAAAAAAA	FAM177A1	ENSG00000151327.14	transcript	ENST00000280987.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
FAM178B_chr2_96870885_96991580	96905840	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03688.hp1 HG02602.hp2 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0206 a0002c0002t0001g0211 a0002c0002t0001g0206 a0002c0002t0001g0211	2	238	0.0084	-25	c.156 others(44): Show c.1563-3158_1563-3134delAAAAATATATATATATATATATATA	FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	12/16			chr2	TogoVar

Search by Variant

Search

Search Results