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
POLE_chr12_132618762_132692342	132688345	GGTCCTCA others(32): Show GGTCCTCATGGAGCGTGTGGAGACAGGGCCAAGGGAGCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0004 a0002c0006t0001g0004	1	290	0.0034	-39	c.-10 others(50): Show c.-1069_-1031delTCGCTCCCTTGGCCCTGTCTCCACACGCTCCATG AGGAC	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding		1004		chr12	TogoVar
POLE_chr12_132618762_132692342	132688786	GCGGGTGA others(32): Show GCGGGTGAAGACAGGGCCAGGGGAGCGGGTCTGCGGGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02723.hp1 HG02970.hp1 others(1): Show HG02615.hp2 HG02723.hp1 HG02970.hp1 NA19240.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0003 a0007c0010t0003	a0007c0010t0003g0168 a0007c0010t0003g0169 a0007c0010t0003g0173 others(1): Show a0007c0010t0003g0168 a0007c0010t0003g0169 a0007c0010t0003g0173 a0007c0010t0003g0174	4	260	0.0154	-39	c.-15 others(50): Show c.-1510_-1472delTGCCCCGCAGACCCGCTCCCCTGGCCCTGTCTTC ACCCG	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding		1445		chr12	TogoVar
POLE_chr12_132618762_132692342	132688819	CGGGGCAC others(32): Show CGGGGCACGGGTGAAGACAGGGCGAGGGGAGCGGGTCTTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00642.hp1 others(81): Show HG00140.hp1 HG00438.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02293.hp2 HG02602.hp1 HG02683.hp2 HG02809.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp2 NA18939.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18962.hp1 NA18966.hp2 NA18969.hp2 NA18979.hp2 NA18989.hp1 NA18993.hp1 NA18998.hp2 NA19003.hp1 NA19012.hp1 NA19043.hp1 NA19064.hp1 NA19067.hp2 NA19077.hp2 NA19080.hp1 NA19084.hp2 NA19088.hp2 NA20752.hp2 NA21309.hp2	a0001 a0009 a0014 others(3): Show a0001 a0009 a0014 a0015 a0022 a0023	a0001c0002 a0001c0005 a0001c0033 others(6): Show a0001c0002 a0001c0005 a0001c0033 a0009c0015 a0014c0037 a0014c0038 a0015c0030 a0022c0031 a0023c0032	a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 others(10): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0005t0003 a0001c0005t0004 a0001c0005t0008 a0001c0033t0002 a0009c0015t0003 a0014c0037t0001 a0014c0038t0004 a0015c0030t0002 a0022c0031t0002 a0023c0032t0002	a0001c0002t0001g0212 a0001c0002t0002g0002 a0001c0002t0002g0008 others(74): Show a0001c0002t0001g0212 a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0013 a0001c0002t0002g0170 a0001c0002t0002g0172 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0228 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0239 a0001c0002t0009g0238 a0001c0005t0003g0012 a0001c0005t0003g0171 a0001c0005t0003g0177 a0001c0005t0003g0179 a0001c0005t0003g0180 a0001c0005t0003g0181 a0001c0005t0003g0233 a0001c0005t0003g0234 a0001c0005t0003g0264 a0001c0005t0004g0167 a0001c0005t0004g0175 a0001c0005t0008g0178 a0001c0033t0002g0229 a0009c0015t0003g0024 a0009c0015t0003g0025 a0009c0015t0003g0026 a0014c0037t0001g0227 a0014c0038t0004g0176 a0015c0030t0002g0186 a0022c0031t0002g0198 a0023c0032t0002g0217	84	260	0.3231	-39	c.-15 others(50): Show c.-1543_-1505delCAAGACCCGCTCCCCTCGCCCTGTCTTCACCCGT GCCCC	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding		1478		chr12	TogoVar
POLR1A_chr2_86015216_86110886	86058415	TTTTTTAA others(32): Show TTTTTTAAATAGAGATGGGGGTCTCACTGTGTTGCCAGGC	T T	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0034 a0002c0003t0002g0034	1	338	0.0030	-39	c.205 others(58): Show c.2059-4165_2059-4127delGCCTGGCAACACAGTGAGACCCCCAT CTCTATTTAAAAA	POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	14/33			chr2	TogoVar
POLR1D_chr13_27616892_27628449	27619238	TGTTATTC others(32): Show TGTTATTCATGGCTCAACAAAGCTTTGACAAGCCAAAAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG00741.hp1 others(19): Show HG00140.hp1 HG00621.hp1 HG00741.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG02040.hp1 HG02055.hp2 HG02155.hp1 HG02602.hp2 HG02683.hp1 HG02809.hp1 HG02976.hp2 HG03017.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03834.hp2 HG03942.hp1 NA18522.hp2 NA18967.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001	22	436	0.0505	-39	c.-27 others(50): Show c.-2745_-2707delGTTATTCATGGCTCAACAAAGCTTTGACAAGCCA AAAAG	POLR1D	ENSG00000186184.20	transcript	ENST00000302979.5	protein_coding		2653		chr13	TogoVar
POLR2K_chr8_100145636_100159003	100158902	ATTGTTCA others(32): Show ATTGTTCAGTTATAGATCCACCTCCTCGTTGTACTCTTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	427	0.0023	-39	c.55 others(50): Show c.5587_*5625delTTGTTCAGTTATAGATCCACCTCCTCGTTGTACT CTTTC	POLR2K	ENSG00000147669.11	transcript	ENST00000353107.8	protein_coding		4900		chr8	TogoVar
POMGNT2_chr3_43074234_43111079	43090009	GGGTTTTA others(32): Show GGGTTTTAACATCACCTCCAGTCAGCCTTGTTCATCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	376	0.0027	-39	c.-10 others(58): Show c.-105-8512_-105-8474delTAGAGATGAACAAGGCTGACTGGAGG TGATGTTAAAACC	POMGNT2	ENSG00000144647.7	transcript	ENST00000344697.3	protein_coding	1/1			chr3	TogoVar
POTEG_chr14_19397486_19439341	19434934	CGCGCGTG others(32): Show CGCGCGTGCGGCGTGCGCGTGCGGCGTGCGCGTGCGGCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG02071.hp1 HG02300.hp1 others(3): Show HG01952.hp1 HG02071.hp1 HG02300.hp1 HG03225.hp2 NA18959.hp2 NA20129.hp2	a0002 a0003 a0013 others(2): Show a0002 a0003 a0013 a0018 a0032	a0002c0002 a0003c0027 a0013c0012 others(2): Show a0002c0002 a0003c0027 a0013c0012 a0018c0024 a0032c0020	a0002c0002t0002 a0003c0027t0004 a0013c0012t0004 others(2): Show a0002c0002t0002 a0003c0027t0004 a0013c0012t0004 a0018c0024t0002 a0032c0020t0006	a0002c0002t0002g0086 a0002c0002t0002g0088 a0003c0027t0004g0050 others(3): Show a0002c0002t0002g0086 a0002c0002t0002g0088 a0003c0027t0004g0050 a0013c0012t0004g0049 a0018c0024t0002g0083 a0032c0020t0006g0077	6	51	0.1176	-39	c.-68 others(48): Show c.-684_-646delACGCCGCACGCGCACGCCGCACGCGCACGCCGCACG CGC	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding		594		chr14	TogoVar
PP2D1_chr3_19980346_20017264	20009713	TTAGCAAC others(32): Show TTAGCAACCTTCATACATGATTTACACGTGGCAATATAAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0207 a0001c0001t0007g0207	1	394	0.0025	-39	c.23+ others(54): Show c.23+2298_23+2336delTTTATATTGCCACGTGTAAATCATGTATGA AGGTTGCTA	PP2D1	ENSG00000183977.14	transcript	ENST00000389050.5	protein_coding	1/2			chr3	TogoVar
PPEF2_chr4_75854867_75907452	75885701	AAAAAATA others(32): Show AAAAAATATAAAAAATTAGTCCATCGTAGGCCAGGCGCGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	268	0.0037	-39	c.580 others(54): Show c.580-980_580-942delCCGCGCCTGGCCTACGATGGACTAATTTTT TATATTTTT	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	7/16			chr4	TogoVar
PPIL2_chr22_21661012_21702907	21677223	AGGCAGAG others(32): Show AGGCAGAGGCGCTCCTCACATCCCAGACGATGGGTGGCTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(67): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01361.hp1 HG01496.hp2 HG01928.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02698.hp1 HG02922.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18939.hp2 NA18948.hp2 NA18950.hp1 NA18962.hp2 NA18965.hp1 NA18968.hp2 NA18970.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18997.hp2 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19063.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19083.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0002 a0003c0007t0002 a0001c0001t0002 a0003c0007t0002	a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0010 others(48): Show a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0166 a0001c0001t0002g0174 a0001c0001t0002g0182 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0003c0007t0002g0066	70	376	0.1862	-39	c.295 others(56): Show c.295+2116_295+2154delGCGCTCCTCACATCCCAGACGATGGGTG GCTGGGCAGAG	PPIL2	ENSG00000100023.20	transcript	ENST00000398831.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP1R12C_chr19_55085918_55122637	55102244	TGGCTCAC others(32): Show TGGCTCACGCCTGTAACCCCAGCATTTTGGAAGACTGAGG	T T	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	388	0.0026	-39	c.731 others(56): Show c.731+1126_731+1164delCCTCAGTCTTCCAAAATGCTGGGGTTAC AGGCGTGAGCC	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	4/21			chr19	TogoVar
PPP2R3B_chrX_328933_391907	341110	CGTCCCCC others(32): Show CGTCCCCCTGTGCCGTGCAGCCCCCACCAGGCGTGCACAT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG02165.hp1 others(17): Show HG01071.hp1 HG01071.hp2 HG02165.hp1 HG02165.hp2 HG02630.hp1 HG02965.hp1 HG03209.hp1 HG03471.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp1 NA18940.hp1 NA18960.hp1 NA18994.hp1 NA19079.hp1 NA19086.hp1 NA19088.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0002 a0001c0004 a0001c0007 others(6): Show a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0002c0001 a0002c0006 a0003c0009 a0005c0011 a0006c0005	a0001c0002t0001 a0001c0004t0003 a0001c0007t0001 others(8): Show a0001c0002t0001 a0001c0004t0003 a0001c0007t0001 a0001c0008t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0006 a0002c0006t0007 a0003c0009t0001 a0005c0011t0005 a0006c0005t0003	a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0010 others(17): Show a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0004t0003g0004 a0001c0004t0003g0013 a0001c0007t0001g0011 a0001c0008t0001g0002 a0002c0001t0002g0001 a0002c0001t0002g0008 a0002c0001t0002g0016 a0002c0001t0002g0017 a0002c0001t0002g0020 a0002c0001t0002g0022 a0002c0001t0004g0003 a0002c0001t0006g0019 a0002c0006t0007g0018 a0003c0009t0001g0023 a0005c0011t0005g0025 a0006c0005t0003g0012	20	24	0.8333	-39	c.117 others(56): Show c.1175+158_1176-171delATGTGCACGCCTGGTGGGGGCTGCACGG CACAGGGGGAC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	9/12			chrX	TogoVar
PPP2R3B_chrX_328933_391907	346882	CGGTGTAG others(32): Show CGGTGTAGACGCCGGCCCTCCCGTGAGGGATGAGGCGTAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0008 a0004c0010t0008	a0004c0010t0008g0024 a0004c0010t0008g0024	1	24	0.0417	-39	c.718 others(54): Show c.718-146_718-108delATACGCCTCATCCCTCACGGGAGGGCCGGC GTCTACACC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	4/12			chrX	TogoVar
PPP2R5D_chr6_42979570_43017342	42998033	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	303	0.0033	-39	c.105 others(56): Show c.105+8347_105+8385delATATATATATATATATATATATATTTTT TTTTTTTTTTT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5D_chr6_42979570_43017342	42998035	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 NA18522.hp1 others(1): Show HG02615.hp2 HG02809.hp1 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0223 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0223 a0001c0001t0001g0228	4	289	0.0138	-39	c.105 others(56): Show c.105+8349_105+8387delATATATATATATATATATATATTTTTTT TTTTTTTTTTT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5D_chr6_42979570_43017342	42998037	ATATATAT others(32): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03139.hp1 HG02976.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0222 a0001c0001t0001g0213 a0001c0001t0001g0222	2	232	0.0086	-39	c.105 others(56): Show c.105+8351_106-8386delATATATATATATATATATATTTTTTTTT TTTTTTTTTTT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP3CA_chr4_101018418_101352526	101106437	GAAAGAAA others(32): Show GAAAGAAAGAAAGAAAGAGAAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0191 a0001c0001t0073g0191	1	185	0.0054	-39	c.384 others(56): Show c.384+2478_384+2516delTCTTTTCTTTTCTTTTCTTTTCTCTTTC TTTCTTTCTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP6R2_chr22_50338327_50450090	50339213	GTGTAGGG others(32): Show GTGTAGGGTGTGTGGTGTGTTTACGGTGTGTGTTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	338	0.0030	-39	c.-44 others(50): Show c.-4484_-4446delTGTAGGGTGTGTGGTGTGTTTACGGTGTGTGTTG TGTGT	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding		4113		chr22	TogoVar
PQBP1_chrX_48892930_48908143	48907163	CATCTCAA others(32): Show CATCTCAAAAAAAAAAAAAAAGAAAGAAAGAAATAACCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	305	0.0033	-39	c.40 others(50): Show c.4080_*4118delATCTCAAAAAAAAAAAAAAAGAAAGAAAGAAATA ACCAT	PQBP1	ENSG00000102103.18	transcript	ENST00000447146.7	protein_coding		4021		chrX	TogoVar
PRAMEF26_chr1_13143907_13161009	13159204	GCCTACTG others(32): Show GCCTACTGTTCCAAAATCATATAGACCTTAGATTACAGTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	228	0.0044	-39	c.-33 others(50): Show c.-3376_-3338delAACTGTAATCTAAGGTCTATATGATTTTGGAACA GTAGG	PRAMEF26	ENSG00000280267.7	transcript	ENST00000624207.2	protein_coding		3196		chr1	TogoVar
PRAP1_chr10_133342373_133357683	133350423	ATGACCCC others(32): Show ATGACCCCAGGTGGACGAGGTGGGTCCAGATGAGCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	386	0.0026	-39	c.75+ others(52): Show c.75+277_75+315delCGAGGTGGGTCCAGATGAGCCCCCGTGACCCC AGGTGGA	PRAP1	ENSG00000165828.15	transcript	ENST00000433452.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRDM15_chr21_41793225_41884344	41806117	CCACCACC others(32): Show CCACCACCATCACCACCACCATCACCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0002 a0001c0035t0002	a0001c0035t0002g0020 a0001c0035t0002g0020	1	398	0.0025	-39	c.265 others(58): Show c.2653-1542_2653-1504delATGGTGGTGGTGGTGGTGATGGTGGT GGTGATGGTGGTG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41806138	TCACCACC others(32): Show TCACCACCACCACCACCATCACCATCACCACCACCATCAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG03516.hp1 HG02622.hp1 HG02647.hp2 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0001 a0001c0005t0009g0330 a0001c0005t0009g0001 a0001c0005t0009g0330	3	382	0.0079	-39	c.265 others(58): Show c.2653-1563_2653-1525delGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGGTG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41832332	CTTACAGC others(32): Show CTTACAGCACTGTGGCATCGGATCACCACAGGCCACACCT	C C	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0250 a0001c0006t0009g0250	1	404	0.0025	-39	c.136 others(58): Show c.1366+3066_1366+3104delAGGTGTGGCCTGTGGTGATCCGATGC CACAGTGCTGTAA	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	11/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41832475	CAGGCCAC others(32): Show CAGGCCACACCTTTACAGTGCTGTGGCAACGGATCACCAT	C C	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0299 a0001c0003t0001g0299	1	404	0.0025	-39	c.136 others(58): Show c.1366+2923_1366+2961delATGGTGATCCGTTGCCACAGCACTGT AAAGGTGTGGCCT	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	11/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3231385	TGGACAGC others(32): Show TGGACAGCGGTCAAGGCCGTCTCCCCTTCTCCGTCGTCAG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03486.hp2 HG02886.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0022 a0002c0007 a0001c0022 a0002c0007	a0001c0022t0057 a0002c0007t0001 a0001c0022t0057 a0002c0007t0001	a0001c0022t0057g0138 a0002c0007t0001g0001 a0001c0022t0057g0138 a0002c0007t0001g0001	2	150	0.0133	-39	c.388 others(58): Show c.388-12681_388-12643delTCCCCTTCTCCGTCGTCAGGGACAGC GGTCAAGGCCGTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3286838	ATGGGACT others(32): Show ATGGGACTCAAAGCTGGGTCTGCCCACCCTTCCTGGGTGC	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0097 a0001c0001t0008g0097	1	128	0.0078	-39	c.438 others(58): Show c.438+42805_438+42843delCCCTTCCTGGGTGCTGGGACTCAAAG CTGGGTCTGCCCA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3286942	CCCTTCCT others(32): Show CCCTTCCTGGGTGCTGGGACTCAAAGCTGGGTCTGCCCAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0027 a0001c0001t0083g0027	1	208	0.0048	-39	c.438 others(58): Show c.438+42821_438+42859delGGACTCAAAGCTGGGTCTGCCCAACC TTCCTGGGTGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3433482	GCTGCCTG others(32): Show GCTGCCTGTCTGGGATGGCCCGCCCTGCCCACGCGCTCAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00597.hp1 others(25): Show HG00140.hp2 HG00438.hp2 HG00597.hp1 HG00673.hp2 HG00738.hp1 HG01123.hp2 HG01243.hp2 HG01517.hp2 HG01891.hp2 HG02258.hp2 HG02615.hp1 HG02717.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03831.hp1 HG03831.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18943.hp1 NA18970.hp1 NA18983.hp2 NA19005.hp2 NA19010.hp2 NA19030.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003 a0002c0007 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0034 a0001c0001t0048 a0001c0001t0069 a0001c0001t0072 a0001c0001t0077 a0001c0002t0001 a0001c0002t0002 a0001c0002t0018 a0001c0002t0061 a0001c0002t0062 a0001c0004t0029 a0001c0004t0073 a0001c0006t0039 a0002c0003t0004 a0002c0003t0029 a0002c0003t0059 a0002c0007t0002 a0003c0005t0001	a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0002g0012 others(25): Show a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0002g0012 a0001c0001t0006g0155 a0001c0001t0034g0075 a0001c0001t0048g0151 a0001c0001t0069g0115 a0001c0001t0072g0008 a0001c0001t0077g0036 a0001c0002t0001g0187 a0001c0002t0002g0135 a0001c0002t0002g0169 a0001c0002t0018g0085 a0001c0002t0018g0197 a0001c0002t0061g0093 a0001c0002t0062g0191 a0001c0004t0029g0044 a0001c0004t0073g0143 a0001c0006t0039g0140 a0002c0003t0004g0048 a0002c0003t0004g0068 a0002c0003t0004g0123 a0002c0003t0004g0127 a0002c0003t0004g0128 a0002c0003t0029g0106 a0002c0003t0059g0037 a0002c0007t0002g0045 a0003c0005t0001g0171	28	149	0.1879	-39	c.369 others(54): Show c.3697-68_3697-30delTGGGATGGCCCGCCCTGCCCACGCGCTCAC CTGCCTGTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM8_chr4_80192503_80209329	80208067	CCACACAC others(32): Show CCACACACACCACACACACACCACACACACACACCACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18983.hp1 NA19006.hp2 NA18955.hp2 NA18983.hp1 NA19006.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0035 a0001c0002t0002g0022 a0001c0002t0002g0035	3	418	0.0072	-39	c.45 others(50): Show c.4536_*4574delCACACACACCACACACACACCACACACACACACC ACACA	PRDM8	ENSG00000152784.16	transcript	ENST00000415738.3	protein_coding		3739		chr4	TogoVar
PRDX6_chr1_173472335_173493815	173484193	TACATATA others(32): Show TACATATATATACATATGCACACGTATATAATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	400	0.0025	-39	c.253 others(56): Show c.253-1156_253-1118delCATATGCACACGTATATAATATATATAC ACATATATATA	PRDX6	ENSG00000117592.9	transcript	ENST00000340385.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRG2_chr11_57381780_57395650	57390479	TAACCTGA others(32): Show TAACCTGAAAGCCACAGGTAGACGCCTGCCAGCCCTCCAG	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	402	0.0025	-39	c.-13 others(53): Show c.-13+78_-13+116delCTGGAGGGCTGGCAGGCGTCTACCTGTGGCT TTCAGGTT	PRG2	ENSG00000186652.10	transcript	ENST00000311862.10	protein_coding	1/5			chr11	TogoVar
PRIMPOL_chr4_184644738_184699952	184676752	CCCCCTTC others(32): Show CCCCCTTCCCTTCCCTTTCTTTCTCCCTTCCCTTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01358.hp2 others(2): Show HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0269 others(2): Show a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271	5	283	0.0177	-39	c.845 others(56): Show c.845-1479_845-1441delCCCCTTCCCTTCCCTTTCTTTCTCCCTT CCCTTCCCCCT	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13			chr4	TogoVar
PRKAG2_chr7_151551127_151882115	151874486	TATGATGT others(32): Show TATGATGTATATGTATATGATGTATATGTATATGTATATG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	225	0.0044	-39	c.114 others(56): Show c.114+1982_114+2020delCATATACATATACATATACATCATATAC ATATACATCAT	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCA_chr17_66297613_66815743	66799415	GTGGTGGT others(32): Show GTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0115 a0001c0002t0021g0115	1	168	0.0060	-39	c.185 others(58): Show c.1855-4449_1855-4411delATGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCE_chr2_45646675_46192990	45744461	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0101 a0001c0001t0006g0101	1	166	0.0060	-39	c.348 others(58): Show c.348+92048_348+92086delTTTCTTTTCTTTCTTTCTTTCTTTCT TTCTTTTTCTTTC	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCH_chr14_61316579_61555976	61444460	CCTGTAGG others(32): Show CCTGTAGGCATTAGTGGTGATGGCCCCTGACCTGAACTGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00639.hp1 others(22): Show HG00280.hp2 HG00544.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp2 HG01081.hp2 HG01109.hp2 HG01192.hp2 HG01891.hp2 HG02027.hp2 HG02145.hp1 HG02155.hp2 HG02451.hp2 HG02630.hp1 HG02735.hp1 HG03209.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03927.hp2 HG04184.hp2 HG04228.hp1 NA18992.hp2 NA19065.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0003t0005 a0001c0003t0014 a0001c0004t0002 a0001c0009t0002	a0001c0001t0001g0040 a0001c0001t0001g0070 a0001c0001t0001g0119 others(22): Show a0001c0001t0001g0040 a0001c0001t0001g0070 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0002g0078 a0001c0001t0004g0048 a0001c0001t0007g0165 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0079 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0001g0204 a0001c0002t0013g0075 a0001c0003t0001g0100 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0005g0193 a0001c0003t0014g0195 a0001c0004t0002g0205 a0001c0009t0002g0020	25	206	0.1214	-39	c.578 others(56): Show c.578+1201_579-1192delTGTAGGCATTAGTGGTGATGGCCCCTGA CCTGAACTGAC	PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCZ_chr1_2045411_2190395	2121526	GGCAGTAG others(32): Show GGCAGTAGTTAGGGTTATATCAGTAGTTAGGGCTATGGCT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00639.hp2 others(35): Show HG00099.hp1 HG00140.hp1 HG00639.hp2 HG00738.hp1 HG01070.hp2 HG01099.hp2 HG01192.hp1 HG01255.hp1 HG01358.hp2 HG01496.hp2 HG02027.hp1 HG02109.hp2 HG02129.hp1 HG02148.hp1 HG02273.hp1 HG02300.hp2 HG02602.hp1 HG03239.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 NA18612.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18954.hp1 NA18964.hp2 NA18975.hp1 NA18983.hp1 NA19003.hp1 NA19055.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0066 a0001c0002t0001g0070 a0001c0002t0001g0087 others(35): Show a0001c0001t0001g0066 a0001c0002t0001g0070 a0001c0002t0001g0087 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0148 a0001c0002t0001g0152 a0001c0002t0001g0207 a0001c0002t0001g0210 a0001c0002t0001g0213 a0001c0002t0001g0216 a0001c0002t0001g0218 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0238 a0001c0002t0001g0246 a0001c0002t0001g0268 a0001c0002t0001g0284 a0001c0002t0004g0149 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0109 a0001c0003t0001g0111 a0001c0003t0001g0114 a0001c0003t0001g0127 a0001c0003t0001g0138 a0001c0003t0001g0266 a0001c0003t0003g0187 a0001c0003t0003g0188 a0001c0003t0003g0189 a0001c0003t0003g0190	38	268	0.1418	-39	c.335 others(58): Show c.335-13734_335-13696delCAGTAGTTAGGGTTATATCAGTAGTT AGGGCTATGGCTG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKG1_chr10_51069487_52303350	51701702	AGTTGAAT others(32): Show AGTTGAATATGTGTGTAATTGTGTGTGTATTAAATGTAGT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp1 HG02109.hp1 others(8): Show HG01099.hp1 HG01192.hp1 HG02109.hp1 HG02818.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03834.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0002t0006 a0001c0006t0007	a0001c0001t0001g0019 a0001c0001t0001g0046 a0001c0001t0001g0062 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0046 a0001c0001t0001g0062 a0001c0001t0003g0023 a0001c0001t0004g0028 a0001c0001t0005g0061 a0001c0001t0006g0010 a0001c0001t0008g0003 a0001c0001t0013g0011 a0001c0002t0006g0013 a0001c0006t0007g0050	11	64	0.1719	-39	c.593 others(60): Show c.593-102882_593-102844delGTTGAATATGTGTGTAATTGTGTG TGTATTAAATGTAGT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17			chr10	TogoVar
PRKN_chr6_161342417_162732766	161874173	TATATATT others(32): Show TATATATTATATATAATATATAATATATATTATATGTAAA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	30	0.0333	-39	c.735 others(58): Show c.735-88304_735-88266delTTTACATATAATATATATTATATATT ATATATAATATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRPF4_chr9_113270658_113297905	113285343	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01257.hp2 HG01346.hp2 others(7): Show HG01099.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01943.hp1 HG01975.hp1 HG01993.hp1 HG02300.hp2 HG02818.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0016 a0001c0002t0017 a0001c0001t0001 a0001c0002t0016 a0001c0002t0017	a0001c0001t0001g0005 a0001c0001t0001g0111 a0001c0002t0016g0218 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0111 a0001c0002t0016g0218 a0001c0002t0017g0219	10	12	0.8333	-39	c.750 others(54): Show c.750-874_750-836delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	PRPF4	ENSG00000136875.13	transcript	ENST00000374198.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRR13_chr12_53436734_53451638	53450185	GGTGCCAT others(32): Show GGTGCCATCATAACTCACTGCAGCCTTGAATTCCTCGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	386	0.0026	-39	c.41 others(50): Show c.4127_*4165delGTGCCATCATAACTCACTGCAGCCTTGAATTCCT CGGCT	PRR13	ENSG00000205352.11	transcript	ENST00000429243.7	protein_coding		3548		chr12	TogoVar
PRRG3_chrX_151690458_151710924	151703879	TTTTTTTT others(32): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	289	0.0035	-39	c.28 others(50): Show c.2848_*2886delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG TGTGT	PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4	2848	INFO_REALIGN_3_PRIME	chrX	TogoVar
PRSS12_chr4_118275038_118358003	118299746	TAAATAAA others(32): Show TAAATAAAATAAATAAAATTAAATAAAATAAAATAAAATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	327	0.0031	-39	c.163 others(56): Show c.1632-847_1632-809delTATTTTATTTTATTTTATTTAATTTTAT TTATTTTATTT	PRSS12	ENSG00000164099.3	transcript	ENST00000296498.3	protein_coding	8/12			chr4	TogoVar
PRSS57_chr19_680546_700452	689150	AGAAGGGT others(32): Show AGAAGGGTGGTCCAGGGGTTAGCAGGTGACGACGGGGCTG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	325	0.0031	-39	c.379 others(56): Show c.379-2001_379-1963delCAGCCCCGTCGTCACCTGCTAACCCCTG GACCACCCTTC	PRSS57	ENSG00000185198.12	transcript	ENST00000329267.9	protein_coding	3/4			chr19	TogoVar
PSD3_chr8_18522303_19018703	18752526	ATAATTAT others(32): Show ATAATTATATATTATATATATTATATATAATTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0167 a0001c0001t0055g0167	1	226	0.0044	-39	c.217 others(60): Show c.2172+12884_2172+12922delATATATATAATTATATATAATATA TATAATATATAATTA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18865258	ATATATAT others(32): Show ATATATATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0020 a0002c0011t0020	a0002c0011t0020g0003 a0002c0011t0020g0003	1	223	0.0045	-39	c.163 others(58): Show c.1634+2377_1634+2415delAAAAAAAAAAATATATATATATATAT ATATATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PTBP3_chr9_112213435_112338619	112231960	AAGAGAAG others(32): Show AAGAGAAGAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18969.hp1 NA19067.hp1 others(1): Show NA18954.hp1 NA18969.hp1 NA19067.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0264 a0001c0001t0003g0268 others(1): Show a0001c0001t0003g0152 a0001c0001t0003g0264 a0001c0001t0003g0268 a0001c0001t0003g0280	4	323	0.0124	-39	c.102 others(56): Show c.1020+100_1020+138delCTTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTCTTCTCT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	9/13			chr9	TogoVar
PTCHD1_chrX_23329849_23409374	23342278	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA21309.hp2 HG03486.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0120 a0001c0001t0040 a0001c0001t0120	a0001c0001t0040g0278 a0001c0001t0120g0244 a0001c0001t0040g0278 a0001c0001t0120g0244	2	278	0.0072	-39	c.351 others(56): Show c.351+7054_351+7092delATATATATATATATATATATATATATAT ATATTTTTTTT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar

Search by Variant

Search

Search Results