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
ERRFI1_chr1_8006727_8031309	8007481	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	402	0.0025	20	c.57 others(31): Show c.5728_*5729insTATAGAGAGAGAGAGAGAGA	ERRFI1	ENSG00000116285.13	transcript	ENST00000377482.10	protein_coding		4245		chr1	TogoVar
ERVV-2_chr19_53039740_53056680	53044536	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG00735.hp1 others(58): Show HG00597.hp2 HG00621.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01884.hp1 HG01891.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02897.hp1 HG03098.hp2 HG03139.hp1 HG03516.hp1 HG03669.hp1 HG03704.hp1 HG03927.hp2 HG04184.hp1 NA18939.hp1 NA18940.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18956.hp1 NA18957.hp1 NA18963.hp1 NA18973.hp2 NA18980.hp2 NA18988.hp2 NA18995.hp1 NA19001.hp1 NA19001.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19090.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0018 a0001c0020 a0004c0007	a0001c0001t0002 a0001c0002t0001 a0001c0002t0007 others(10): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0007 a0001c0002t0059 a0001c0005t0001 a0001c0005t0007 a0001c0009t0001 a0001c0018t0001 a0001c0020t0007 a0004c0007t0001 a0004c0007t0007 a0004c0007t0021 a0004c0007t0054	a0001c0001t0002g0016 a0001c0001t0002g0022 a0001c0002t0001g0001 others(18): Show a0001c0001t0002g0016 a0001c0001t0002g0022 a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0023 a0001c0002t0001g0041 a0001c0002t0001g0044 a0001c0002t0007g0001 a0001c0002t0059g0001 a0001c0005t0001g0001 a0001c0005t0001g0042 a0001c0005t0007g0001 a0001c0009t0001g0001 a0001c0018t0001g0043 a0001c0020t0007g0001 a0004c0007t0001g0001 a0004c0007t0007g0001 a0004c0007t0021g0001 a0004c0007t0054g0001	61	446	0.1368	20	c.-80 others(29): Show c.-808_-807insAAAAAAAAAAAAAAAAAAAA	ERVV-2	ENSG00000268964.3	transcript	ENST00000601417.3	protein_coding		203		chr19	TogoVar
ESCO1_chr18_21524284_21605704	21525012	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0193	1	310	0.0032	20	c.53 others(31): Show c.5330_*5331insTATATATATATATATACACA	ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding		4271		chr18	TogoVar
ESF1_chr20_13709325_13789919	13716804	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01515.hp2 HG03688.hp1 others(4): Show HG00408.hp1 HG01515.hp2 HG03688.hp1 NA18962.hp2 NA18991.hp2 NA18999.hp2 NA19000.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0006	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0003t0007 a0004c0006t0001	a0001c0001t0001g0308 a0001c0002t0001g0199 a0001c0002t0001g0204 others(4): Show a0001c0001t0001g0308 a0001c0002t0001g0199 a0001c0002t0001g0204 a0002c0003t0001g0167 a0002c0003t0007g0161 a0004c0006t0001g0227 a0004c0006t0001g0231	7	390	0.0180	20	c.226 others(37): Show c.2262+544_2262+563dupAAAAAAAAAAAAAAAAAAAA	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	13/13			chr20	TogoVar
ESPNL_chr2_238095340_238138287	238125767	T T	TTGGAGTG others(13): Show TTGGAGTGGAGTGGAGTGGAG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03130.hp1 HG02738.hp1 HG03130.hp1	a0004 a0032 a0004 a0032	a0004c0003 a0032c0084 a0004c0003 a0032c0084	a0004c0003t0005 a0032c0084t0007 a0004c0003t0005 a0032c0084t0007	a0004c0003t0005g0285 a0032c0084t0007g0044 a0004c0003t0005g0285 a0032c0084t0007g0044	2	408	0.0049	20	c.110 others(37): Show c.1102+408_1102+427dupGTGGAGTGGAGTGGAGTGGA	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238126921	C C	CTGTGTCT others(13): Show CTGTGTCTGTGATTGTGTCTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp1 HG02559.hp1 others(4): Show HG01081.hp1 HG01884.hp1 HG02559.hp1 HG02717.hp1 NA19043.hp1 NA19240.hp2 NA21309.hp1	a0003 a0015 a0023 others(3): Show a0003 a0015 a0023 a0040 a0044 a0046	a0003c0119 a0015c0120 a0015c0131 others(4): Show a0003c0119 a0015c0120 a0015c0131 a0023c0121 a0040c0075 a0044c0094 a0046c0056	a0003c0119t0012 a0015c0120t0003 a0015c0131t0003 others(4): Show a0003c0119t0012 a0015c0120t0003 a0015c0131t0003 a0023c0121t0011 a0040c0075t0011 a0044c0094t0003 a0046c0056t0001	a0003c0119t0012g0160 a0015c0120t0003g0165 a0015c0131t0003g0164 others(4): Show a0003c0119t0012g0160 a0015c0120t0003g0165 a0015c0131t0003g0164 a0023c0121t0011g0159 a0040c0075t0011g0200 a0044c0094t0003g0166 a0046c0056t0001g0042	7	408	0.0172	20	c.110 others(37): Show c.1103-696_1103-695insCTGTGATTGTGTCTGTGTGT	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238126921	C C	CTGTGTGT others(13): Show CTGTGTGTCTGTGATTGTCTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp1 others(77): Show HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00733.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01496.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03490.hp2 HG03540.hp1 HG03710.hp2 HG04184.hp2 HG06807.hp1 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18954.hp1 NA18960.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18975.hp2 NA18977.hp2 NA18985.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp2 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19083.hp1 NA19083.hp2 NA19086.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0027 a0030 a0032 a0038 a0039 a0042 a0043	a0001c0008 a0001c0012 a0001c0016 others(31): Show a0001c0008 a0001c0012 a0001c0016 a0001c0018 a0001c0048 a0001c0101 a0001c0127 a0002c0031 a0002c0058 a0002c0066 a0002c0081 a0002c0098 a0002c0103 a0002c0118 a0003c0009 a0003c0024 a0003c0044 a0003c0082 a0003c0097 a0003c0116 a0004c0083 a0004c0104 a0005c0027 a0005c0102 a0006c0047 a0007c0100 a0009c0025 a0027c0129 a0030c0095 a0032c0084 a0038c0099 a0039c0106 a0042c0080 a0043c0105	a0001c0008t0003 a0001c0012t0003 a0001c0012t0006 others(39): Show a0001c0008t0003 a0001c0012t0003 a0001c0012t0006 a0001c0016t0004 a0001c0018t0001 a0001c0018t0003 a0001c0018t0006 a0001c0018t0016 a0001c0048t0004 a0001c0101t0016 a0001c0127t0004 a0002c0031t0002 a0002c0031t0007 a0002c0058t0005 a0002c0066t0007 a0002c0081t0005 a0002c0098t0002 a0002c0103t0002 a0002c0118t0007 a0003c0009t0006 a0003c0009t0021 a0003c0024t0001 a0003c0024t0028 a0003c0044t0006 a0003c0082t0006 a0003c0097t0017 a0003c0116t0001 a0004c0083t0005 a0004c0104t0005 a0005c0027t0001 a0005c0027t0022 a0005c0102t0001 a0006c0047t0003 a0007c0100t0003 a0009c0025t0002 a0027c0129t0002 a0030c0095t0006 a0032c0084t0007 a0038c0099t0003 a0039c0106t0001 a0042c0080t0006 a0043c0105t0026	a0001c0008t0003g0076 a0001c0012t0003g0017 a0001c0012t0003g0045 others(71): Show a0001c0008t0003g0076 a0001c0012t0003g0017 a0001c0012t0003g0045 a0001c0012t0003g0046 a0001c0012t0003g0048 a0001c0012t0003g0049 a0001c0012t0006g0023 a0001c0012t0006g0079 a0001c0016t0004g0007 a0001c0016t0004g0022 a0001c0016t0004g0080 a0001c0016t0004g0081 a0001c0018t0001g0041 a0001c0018t0001g0216 a0001c0018t0003g0035 a0001c0018t0003g0233 a0001c0018t0003g0266 a0001c0018t0006g0258 a0001c0018t0016g0215 a0001c0048t0004g0269 a0001c0048t0004g0273 a0001c0101t0016g0016 a0001c0127t0004g0220 a0002c0031t0002g0262 a0002c0031t0002g0272 a0002c0031t0002g0279 a0002c0031t0007g0161 a0002c0058t0005g0321 a0002c0066t0007g0163 a0002c0081t0005g0023 a0002c0098t0002g0254 a0002c0103t0002g0271 a0002c0118t0007g0153 a0003c0009t0006g0006 a0003c0009t0006g0056 a0003c0009t0006g0057 a0003c0009t0006g0058 a0003c0009t0006g0059 a0003c0009t0006g0060 a0003c0009t0006g0062 a0003c0009t0021g0077 a0003c0024t0001g0227 a0003c0024t0001g0230 a0003c0024t0001g0259 a0003c0024t0001g0268 a0003c0024t0001g0281 a0003c0024t0028g0267 a0003c0044t0006g0078 a0003c0044t0006g0084 a0003c0082t0006g0083 a0003c0097t0017g0270 a0003c0116t0001g0280 a0004c0083t0005g0019 a0004c0104t0005g0264 a0005c0027t0001g0006 a0005c0027t0001g0018 a0005c0027t0001g0047 a0005c0027t0001g0082 a0005c0027t0022g0018 a0005c0102t0001g0226 a0006c0047t0003g0035 a0006c0047t0003g0261 a0007c0100t0003g0225 a0009c0025t0002g0016 a0009c0025t0002g0034 a0009c0025t0002g0260 a0009c0025t0002g0263 a0027c0129t0002g0034 a0030c0095t0006g0196 a0032c0084t0007g0044 a0038c0099t0003g0265 a0039c0106t0001g0231 a0042c0080t0006g0019 a0043c0105t0026g0256	80	408	0.1961	20	c.110 others(37): Show c.1103-684_1103-683insCTGTGTGTGTCTGTGATTGT	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPN_chr1_6419776_6465944	6420724	C C	CGGGCCCC others(13): Show CGGGCCCCAGGCTGCCCGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00735.hp1 HG00738.hp2 others(139): Show HG00423.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp2 NA18955.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18969.hp2 NA18975.hp2 NA18985.hp2 NA18990.hp1 NA18994.hp1 NA19002.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0015 a0016 a0017 a0018 a0019 a0020 a0021	a0001c0001 a0001c0002 a0001c0009 others(20): Show a0001c0001 a0001c0002 a0001c0009 a0001c0024 a0002c0003 a0002c0004 a0002c0008 a0003c0005 a0004c0006 a0005c0007 a0006c0022 a0006c0023 a0007c0011 a0008c0012 a0009c0013 a0011c0015 a0015c0028 a0016c0029 a0017c0030 a0018c0017 a0019c0026 a0020c0021 a0021c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0014 a0001c0009t0002 a0001c0024t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0010 a0002c0003t0011 a0002c0004t0002 a0002c0004t0003 a0002c0004t0009 a0002c0004t0012 a0002c0008t0002 a0003c0005t0003 a0004c0006t0002 a0005c0007t0002 a0006c0022t0013 a0006c0023t0005 a0007c0011t0003 a0008c0012t0002 a0009c0013t0006 a0011c0015t0002 a0015c0028t0002 a0016c0029t0008 a0017c0030t0002 a0018c0017t0002 a0019c0026t0003 a0020c0021t0003 a0021c0014t0003	a0001c0001t0001g0019 a0001c0001t0001g0070 a0001c0001t0001g0104 others(120): Show a0001c0001t0001g0019 a0001c0001t0001g0070 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0003g0026 a0001c0001t0003g0218 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0003g0004 a0001c0002t0003g0012 a0001c0002t0003g0025 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0191 a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0003g0195 a0001c0002t0003g0196 a0001c0002t0003g0197 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0204 a0001c0002t0003g0205 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0213 a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0003g0223 a0001c0002t0005g0033 a0001c0002t0014g0184 a0001c0009t0002g0036 a0001c0009t0002g0038 a0001c0024t0002g0057 a0002c0003t0001g0105 a0002c0003t0002g0005 a0002c0003t0002g0006 a0002c0003t0002g0013 a0002c0003t0002g0015 a0002c0003t0002g0028 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0037 a0002c0003t0002g0041 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0044 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0054 a0002c0003t0002g0066 a0002c0003t0002g0073 a0002c0003t0002g0080 a0002c0003t0002g0083 a0002c0003t0002g0085 a0002c0003t0002g0086 a0002c0003t0010g0078 a0002c0003t0011g0040 a0002c0004t0002g0003 a0002c0004t0002g0024 a0002c0004t0002g0052 a0002c0004t0002g0056 a0002c0004t0002g0059 a0002c0004t0002g0069 a0002c0004t0002g0178 a0002c0004t0002g0179 a0002c0004t0002g0180 a0002c0004t0002g0181 a0002c0004t0002g0182 a0002c0004t0003g0185 a0002c0004t0003g0219 a0002c0004t0009g0177 a0002c0004t0012g0049 a0002c0008t0002g0006 a0003c0005t0003g0027 a0003c0005t0003g0183 a0003c0005t0003g0214 a0003c0005t0003g0215 a0003c0005t0003g0216 a0004c0006t0002g0023 a0004c0006t0002g0029 a0004c0006t0002g0171 a0004c0006t0002g0172 a0004c0006t0002g0173 a0004c0006t0002g0176 a0005c0007t0002g0014 a0005c0007t0002g0039 a0006c0022t0013g0034 a0006c0023t0005g0035 a0007c0011t0003g0210 a0007c0011t0003g0211 a0008c0012t0002g0081 a0008c0012t0002g0084 a0009c0013t0006g0208 a0009c0013t0006g0209 a0011c0015t0002g0064 a0015c0028t0002g0175 a0016c0029t0008g0174 a0017c0030t0002g0158 a0018c0017t0002g0032 a0019c0026t0003g0203 a0020c0021t0003g0212 a0021c0014t0003g0198	142	276	0.5145	20	c.-42 others(31): Show c.-4232_-4231insGGGCCCCAGGCTGCCCGCCT	ESPN	ENSG00000187017.18	transcript	ENST00000645284.1	protein_coding		4051		chr1	TogoVar
ESR1_chr6_151802682_152108274	151806530	G G	GTATATAT others(13): Show GTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01433.hp1 HG02027.hp1 others(8): Show HG00099.hp2 HG01433.hp1 HG02027.hp1 HG02056.hp1 HG02647.hp1 HG02886.hp2 HG03927.hp1 HG04115.hp2 NA18974.hp1 NA19084.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0007 a0001c0002 a0001c0005 a0001c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0022 a0001c0002t0030 a0001c0005t0003 a0001c0005t0004 a0001c0007t0001 a0001c0007t0005	a0001c0002t0001g0214 a0001c0002t0002g0150 a0001c0002t0002g0189 others(8): Show a0001c0002t0001g0214 a0001c0002t0002g0150 a0001c0002t0002g0189 a0001c0002t0003g0221 a0001c0002t0012g0141 a0001c0002t0022g0186 a0001c0002t0030g0137 a0001c0005t0003g0151 a0001c0005t0004g0127 a0001c0007t0001g0125 a0001c0007t0005g0206	11	250	0.0440	20	c.-13 others(31): Show c.-1383_-1382insTATATATATATATATATATA	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding		1151		chr6	TogoVar
ESR1_chr6_151802682_152108274	151806557	T T	TATATATA others(13): Show TATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0168 a0001c0001t0011g0168	1	250	0.0040	20	c.-13 others(31): Show c.-1356_-1355insATATATATATATATATACAC	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding		1124		chr6	TogoVar
ESR1_chr6_151802682_152108274	151806557	T T	TATATATA others(13): Show TATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 NA18906.hp2 HG02486.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0004 a0001c0012t0008 a0001c0001t0004 a0001c0012t0008	a0001c0001t0004g0161 a0001c0012t0008g0017 a0001c0001t0004g0161 a0001c0012t0008g0017	2	250	0.0080	20	c.-13 others(31): Show c.-1356_-1355insATATATATATATATATATAC	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding		1124		chr6	TogoVar
ESR1_chr6_151802682_152108274	152002185	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0183 a0001c0002t0005g0183	1	250	0.0040	20	c.109 others(39): Show c.1097-9453_1097-9434dupTGTGTGTGTGTGTGTGTGTG	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESR1_chr6_151802682_152108274	152034290	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00639.hp1 others(14): Show HG00140.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG01978.hp2 HG02027.hp2 HG02056.hp2 HG02602.hp2 HG03490.hp2 HG03834.hp1 HG03927.hp1 HG04228.hp1 NA18963.hp2 NA18968.hp2 NA18989.hp2 NA19079.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0025 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0003t0005 a0001c0004t0004 a0001c0005t0004 a0001c0007t0001 a0001c0008t0001 a0001c0011t0005	a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0003g0106 others(14): Show a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0003g0106 a0001c0001t0005g0032 a0001c0001t0025g0054 a0001c0001t0026g0115 a0001c0002t0001g0134 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0002g0152 a0001c0002t0002g0231 a0001c0003t0005g0104 a0001c0004t0004g0030 a0001c0005t0004g0127 a0001c0007t0001g0217 a0001c0008t0001g0103 a0001c0011t0005g0073	17	250	0.0680	20	c.123 others(41): Show c.1235+22506_1235+22525dupAATAAATAAATAAATAAATA	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESR2_chr14_64223317_64299371	64230865	T T	TTATATAT others(13): Show TTATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0100 a0001c0002t0100	a0001c0002t0100g0225 a0001c0002t0100g0225	1	368	0.0027	20	c.22 others(31): Show c.2252_*2271dupTATATATATATATATATATA	ESR2	ENSG00000140009.19	transcript	ENST00000341099.6	protein_coding	9/9	2271		chr14	TogoVar
ESRP1_chr8_94636174_94712466	94636525	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00558.hp1 others(32): Show HG00140.hp1 HG00423.hp1 HG00558.hp1 HG01167.hp1 HG01243.hp1 HG01255.hp2 HG01928.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02572.hp2 HG02602.hp1 HG03017.hp1 HG04115.hp1 NA18939.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18962.hp1 NA18971.hp2 NA18972.hp1 NA18982.hp1 NA18984.hp1 NA18994.hp1 NA19002.hp2 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19057.hp2 NA19060.hp2 NA19084.hp2 NA19085.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0002t0002 a0001c0005t0001	a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0193 others(32): Show a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0343 a0001c0001t0001g0370 a0001c0001t0005g0274 a0001c0001t0005g0298 a0001c0001t0005g0302 a0001c0001t0009g0356 a0001c0002t0002g0020 a0001c0002t0002g0081 a0001c0002t0002g0272 a0001c0002t0002g0281 a0001c0002t0002g0313 a0001c0002t0002g0357 a0001c0005t0001g0183	35	374	0.0936	20	c.-47 others(31): Show c.-4794_-4793insTTTTTTTTTTTTTTTTTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding		4648		chr8	TogoVar
ESRP1_chr8_94636174_94712466	94667068	G G	GGGGGGTG others(13): Show GGGGGGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02818.hp1 HG02818.hp2 others(1): Show HG01167.hp2 HG02818.hp1 HG02818.hp2 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0001 a0001c0003t0001 a0001c0006t0001	a0001c0003t0001g0368 a0001c0003t0001g0369 a0001c0006t0001g0345 others(1): Show a0001c0003t0001g0368 a0001c0003t0001g0369 a0001c0006t0001g0345 a0001c0006t0001g0352	4	374	0.0107	20	c.932 others(35): Show c.932-880_932-879insGGGGTGTGTGTGTGTGTGTG	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94667068	G G	GGGGTGTG others(13): Show GGGGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0355 a0001c0003t0001g0355	1	374	0.0027	20	c.932 others(35): Show c.932-880_932-879insGGTGTGTGTGTGTGTGTGTG	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94667068	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02630.hp1 others(10): Show HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03195.hp2 HG03540.hp2 NA18906.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0004c0010t0001 a0001c0001t0001 a0004c0010t0001	a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 others(10): Show a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0213 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0004c0010t0001g0321	13	374	0.0348	20	c.932 others(35): Show c.932-874_932-855dupGTGTGTGTGTGTGTGTGTGT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94668789	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18941.hp1 NA18992.hp1 others(1): Show HG01243.hp2 NA18941.hp1 NA18992.hp1 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0013 a0001c0004t0002 a0001c0002t0002 a0001c0002t0013 a0001c0004t0002	a0001c0002t0002g0040 a0001c0002t0002g0079 a0001c0002t0013g0018 others(1): Show a0001c0002t0002g0040 a0001c0002t0002g0079 a0001c0002t0013g0018 a0001c0004t0002g0099	4	374	0.0107	20	c.123 others(37): Show c.1233+558_1233+559insGTGTGTGTGTGTGTGTGTGT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94682904	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	374	0.0027	20	c.182 others(39): Show c.1820+4543_1820+4562dupATATATATATATATATATAT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94682932	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0271 a0001c0001t0004g0271	1	374	0.0027	20	c.182 others(39): Show c.1820+4562_1820+4563insATATATATATATATATTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94682932	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0141 a0001c0002t0012g0141	1	374	0.0027	20	c.182 others(39): Show c.1820+4562_1820+4563insATATATATATTTTTTTTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94689811	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03654.hp1 HG00733.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0003 a0001c0003t0001g0340 a0001c0001t0001g0003 a0001c0003t0001g0340	2	374	0.0054	20	c.182 others(39): Show c.1821-2860_1821-2841dupTTTTTTTTTTTTTTTTTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRRB_chr14_76371137_76506837	76485626	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02004.hp2 NA18957.hp1 others(2): Show HG00558.hp2 HG02004.hp2 NA18957.hp1 NA18990.hp1 NA19079.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0003c0006t0001	a0001c0001t0001g0105 a0001c0001t0001g0253 a0001c0001t0010g0160 others(2): Show a0001c0001t0001g0105 a0001c0001t0001g0253 a0001c0001t0010g0160 a0001c0002t0001g0281 a0003c0006t0001g0278	5	318	0.0157	20	c.850 others(37): Show c.850+2882_850+2901dupGAGAGAGAGAGAGAGAGAGA	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRB_chr14_76371137_76506837	76489445	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01175.hp1 HG01175.hp2 others(13): Show HG00323.hp1 HG01175.hp1 HG01175.hp2 HG02056.hp2 HG02145.hp2 HG02615.hp1 HG02886.hp2 HG03516.hp2 HG03669.hp1 NA18612.hp1 NA18949.hp1 NA18954.hp2 NA18964.hp1 NA18977.hp2 NA18999.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0002t0002 a0001c0002t0005 a0002c0004t0003	a0001c0001t0001g0118 a0001c0001t0002g0081 a0001c0001t0002g0260 others(13): Show a0001c0001t0001g0118 a0001c0001t0002g0081 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0268 a0001c0001t0003g0051 a0001c0001t0003g0062 a0001c0001t0003g0119 a0001c0001t0003g0151 a0001c0001t0005g0241 a0001c0001t0009g0036 a0001c0001t0010g0041 a0001c0001t0012g0027 a0001c0002t0002g0055 a0001c0002t0005g0099 a0002c0004t0003g0221	16	318	0.0503	20	c.851 others(37): Show c.851-1986_851-1967dupACACACACACACACACACAC	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRG_chr1_216498251_216728429	216511547	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01109.hp2 HG02922.hp2 others(4): Show HG00408.hp1 HG01109.hp2 HG02922.hp2 HG03017.hp1 HG03041.hp2 NA18949.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0027 a0001c0003t0004	a0001c0001t0006g0117 a0001c0002t0001g0058 a0001c0002t0001g0059 others(4): Show a0001c0001t0006g0117 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0002g0278 a0001c0002t0027g0277 a0001c0003t0004g0016 a0001c0003t0004g0089	7	286	0.0245	20	c.113 others(39): Show c.1133-4365_1133-4364insTGTGTGTGTGTGTGTGTGTG	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	6/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216516636	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01255.hp2 others(21): Show HG00642.hp1 HG00642.hp2 HG01255.hp2 HG01358.hp2 HG01981.hp2 HG01993.hp1 HG02148.hp1 HG02698.hp1 HG02738.hp2 HG03688.hp1 HG03704.hp1 NA18522.hp1 NA18948.hp1 NA18962.hp1 NA18977.hp2 NA18983.hp2 NA18985.hp1 NA18999.hp2 NA19001.hp1 NA19077.hp1 NA19077.hp2 NA19085.hp1 NA19086.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0002t0001	a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0001g0093 others(21): Show a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0186 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0260 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0005g0022 a0001c0001t0012g0094 a0001c0001t0012g0218 a0001c0001t0013g0064 a0001c0001t0016g0001 a0001c0002t0001g0276	24	286	0.0839	20	c.113 others(39): Show c.1132+2496_1132+2515dupGTGTGTGTGTGTGTGTGTGT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	6/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216516668	C C	CACACACA others(13): Show CACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02523.hp1 HG01123.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0204 a0001c0001t0003g0132 a0001c0001t0001g0204 a0001c0001t0003g0132	2	286	0.0070	20	c.113 others(39): Show c.1132+2483_1132+2484insCTGTGTGTGTGTGTGTGTGT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	6/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216516668	C C	CACACACA others(13): Show CACACACACAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0034 a0001c0003t0004g0034	1	286	0.0035	20	c.113 others(39): Show c.1132+2483_1132+2484insCTCTCTCTCTCTGTGTGTGT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	6/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216516668	C C	CACACACA others(13): Show CACACACAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp2 HG02965.hp1 others(3): Show HG02572.hp1 HG02622.hp2 HG02965.hp1 HG03516.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0014 a0001c0003t0004g0024 a0001c0003t0004g0033 others(3): Show a0001c0003t0004g0014 a0001c0003t0004g0024 a0001c0003t0004g0033 a0001c0003t0004g0217 a0001c0003t0004g0268 a0001c0003t0004g0269	6	286	0.0210	20	c.113 others(39): Show c.1132+2483_1132+2484insCTCTCTCTCTCTCTGTGTGT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	6/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216516668	C C	CACACAGA others(13): Show CACACAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0257 a0001c0001t0015g0257	1	286	0.0035	20	c.113 others(39): Show c.1132+2483_1132+2484insCTCTCTCTCTCTCTCTGTGT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	6/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216569111	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAAGGAAGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00408.hp2 others(43): Show HG00099.hp2 HG00408.hp1 HG00408.hp2 HG01192.hp1 HG01358.hp2 HG02040.hp2 HG02148.hp1 HG02165.hp2 HG02293.hp1 HG02523.hp1 HG02615.hp1 HG02738.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03195.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp2 NA18941.hp1 NA18944.hp1 NA18959.hp1 NA18962.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp1 NA19000.hp1 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19076.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0019 a0001c0001t0029 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0004t0011 a0001c0006t0023 a0001c0007t0002	a0001c0001t0001g0051 a0001c0001t0001g0095 a0001c0001t0001g0135 others(43): Show a0001c0001t0001g0051 a0001c0001t0001g0095 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0151 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0206 a0001c0001t0001g0261 a0001c0001t0002g0111 a0001c0001t0003g0049 a0001c0001t0003g0054 a0001c0001t0003g0103 a0001c0001t0003g0108 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0253 a0001c0001t0005g0231 a0001c0001t0009g0161 a0001c0001t0019g0066 a0001c0001t0029g0110 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0058 a0001c0002t0001g0062 a0001c0002t0001g0276 a0001c0002t0002g0021 a0001c0002t0002g0038 a0001c0002t0002g0042 a0001c0002t0002g0106 a0001c0002t0002g0118 a0001c0002t0002g0146 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0153 a0001c0002t0002g0176 a0001c0002t0002g0234 a0001c0002t0002g0266 a0001c0002t0002g0275 a0001c0002t0002g0278 a0001c0002t0006g0251 a0001c0004t0011g0241 a0001c0006t0023g0010 a0001c0007t0002g0009 a0001c0007t0002g0011	46	286	0.1608	20	c.590 others(37): Show c.590-1014_590-1013insCTTCTTCCTTCCTTCCTTCC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216569111	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAAGGAGGAAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	286	0.0035	20	c.590 others(37): Show c.590-1014_590-1013insCTTCCTCCTTCCTTCCTTCC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216569190	G G	GGGAAAGG others(13): Show GGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02647.hp1 HG02895.hp2 others(1): Show HG01258.hp1 HG02647.hp1 HG02895.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0024 a0001c0003t0004 others(1): Show a0001c0001t0001 a0001c0001t0024 a0001c0003t0004 a0001c0004t0005	a0001c0001t0001g0101 a0001c0001t0024g0113 a0001c0003t0004g0121 others(1): Show a0001c0001t0001g0101 a0001c0001t0024g0113 a0001c0003t0004g0121 a0001c0004t0005g0256	4	286	0.0140	20	c.590 others(37): Show c.590-1112_590-1093dupTTTCCTTTCCTTTCCTTTCC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216569190	G G	GGGAAGGG others(13): Show GGGAAGGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02145.hp2 HG02896.hp2 others(1): Show HG00140.hp1 HG02145.hp2 HG02896.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0006 a0001c0002t0002 a0001c0003t0004 a0001c0001t0006 a0001c0002t0002 a0001c0003t0004	a0001c0001t0006g0117 a0001c0002t0002g0038 a0001c0003t0004g0035 others(1): Show a0001c0001t0006g0117 a0001c0002t0002g0038 a0001c0003t0004g0035 a0001c0003t0004g0119	4	286	0.0140	20	c.590 others(37): Show c.590-1093_590-1092insTTTCCTTTCCTTTCCCTTCC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216569190	G G	GGGAAGGG others(13): Show GGGAAGGGAGAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0034 a0001c0003t0004g0034	1	286	0.0035	20	c.590 others(37): Show c.590-1093_590-1092insTTTCCTTTCCTCTCCCTTCC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216682709	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG01074.hp1 others(9): Show HG00544.hp1 HG00597.hp2 HG01074.hp1 HG01891.hp2 HG01993.hp2 HG02738.hp2 NA18940.hp1 NA18979.hp2 NA19004.hp1 NA19062.hp2 NA19064.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0026 a0001c0002t0001	a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0274 others(9): Show a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0274 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0200 a0001c0001t0005g0090 a0001c0001t0016g0001 a0001c0001t0026g0188 a0001c0002t0001g0112 a0001c0002t0001g0203 a0001c0002t0001g0214	12	286	0.0420	20	c.57- others(35): Show c.57-5238_57-5219dupACACACACACACACACACAC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	1/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216699433	T T	TGATGGAT others(13): Show TGATGGATATGTTTTTAAACC	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0065 a0001c0002t0002g0065	1	286	0.0035	20	c.57- others(37): Show c.57-21962_57-21943dupGGTTTAAAAACATATCCATC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	1/6			chr1	TogoVar
ESYT2_chr7_158725997_158834509	158729675	G G	GGGGAGCA others(13): Show GGGGAGCAGTGTGGAGATGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0201 a0002c0004t0003g0201	1	370	0.0027	20	c.45 others(31): Show c.4531_*4532insAACATCTCCACACTGCTCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1321		chr7	TogoVar
ETF1_chr5_138501095_138548236	138501222	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02083.hp1 NA18975.hp1 HG00438.hp1 HG02083.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0130 a0001c0001t0001g0159 a0001c0001t0001g0108 a0001c0001t0001g0130 a0001c0001t0001g0159	3	334	0.0090	20	c.70 others(31): Show c.7082_*7083insTTTTTTTTTTTTTTTTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding		4872		chr5	TogoVar
ETF1_chr5_138501095_138548236	138510357	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	334	0.0030	20	c.108 others(37): Show c.1083+188_1083+207dupTTTTTTTTTTTTTTTTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	9/10			chr5	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	334	0.0060	20	c.732 others(35): Show c.732+538_732+539insATTTTTTTTTTTTTTTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA19085.hp2 HG01074.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0095 a0001c0001t0001g0067 a0001c0001t0001g0095	2	334	0.0060	20	c.732 others(35): Show c.732+538_732+539insATATATATATATATATTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETFA_chr15_76210353_76316469	76295936	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01175.hp1 HG01255.hp2 others(12): Show HG01081.hp1 HG01175.hp1 HG01255.hp2 HG02683.hp2 HG02735.hp2 HG03491.hp2 NA18939.hp2 NA18942.hp2 NA18980.hp1 NA18985.hp2 NA18992.hp1 NA19009.hp1 NA19012.hp1 NA19058.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0008 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0008 a0002c0002t0001 a0002c0002t0004	a0001c0001t0002g0129 a0001c0001t0002g0137 a0001c0001t0002g0141 others(12): Show a0001c0001t0002g0129 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0197 a0001c0001t0002g0214 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0008g0165 a0002c0002t0001g0252 a0002c0002t0004g0253	15	336	0.0446	20	c.40- others(33): Show c.40-219_40-200dupAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76310068	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18973.hp2 HG02074.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0203 a0001c0001t0002g0204	2	336	0.0060	20	c.39+ others(35): Show c.39+1262_39+1281dupTTTTTTTTTTTTTTTTTTTT	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76311932	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG02109.hp1 HG02132.hp2 others(4): Show HG01928.hp1 HG02109.hp1 HG02132.hp2 HG02145.hp2 NA18970.hp2 NA18985.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0081 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0081 a0001c0001t0002g0172 a0001c0001t0002g0187 a0001c0001t0003g0103 a0001c0001t0003g0273	7	336	0.0208	20	c.-54 others(29): Show c.-545_-544insAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		464		chr15	TogoVar
ETFDH_chr4_158667296_158714623	158689595	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18984.hp2 HG03491.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0072 a0001c0001t0007g0239 a0001c0001t0003g0072 a0001c0001t0007g0239	2	298	0.0067	20	c.607 others(35): Show c.607-730_607-711dupATATATATATATATATATAT	ETFDH	ENSG00000171503.13	transcript	ENST00000511912.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ETFDH_chr4_158667296_158714623	158689636	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA20905.hp1 NA18945.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0138 a0001c0001t0001g0030 a0001c0001t0001g0138	2	298	0.0067	20	c.607 others(35): Show c.607-711_607-710insATATATATATATATATATTT	ETFDH	ENSG00000171503.13	transcript	ENST00000511912.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ETFDH_chr4_158667296_158714623	158709019	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0142 a0001c0001t0037g0142	1	298	0.0034	20	c.51 others(29): Show c.512_*531dupGTGTGTGTGTGTGTGTGTGT	ETFDH	ENSG00000171503.13	transcript	ENST00000511912.6	protein_coding	13/13	532	INFO_REALIGN_3_PRIME	chr4	TogoVar
ETFRF1_chr12_25190237_25210143	25199619	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02559.hp1 HG01433.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	2	390	0.0051	20	c.-37 others(37): Show c.-37-4291_-37-4272dupCACACACACACACACACACA	ETFRF1	ENSG00000205707.11	transcript	ENST00000381356.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar

Search by Variant

Search

Search Results