view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P2RY12_chr3_151331843_151389753 | 151368644 | CATTTCAT others(38): Show |
C | intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 391 | 0.0026 | -45 | c.-18 others(66): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
P2RY12_chr3_151331843_151389753 | 151368677 | GTCATTTC others(38): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00609.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0200 others(18): Show |
23 | 212 | 0.1085 | -45 | c.-18 others(66): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 189966083 | GAAGAAAG others(38): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG02080.hp1 HG02109.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0017 | a0001c0001t0002a0001c0002t0002a0002c0017t0005 | a0001c0001t0002g0046 a0001c0002t0002g0033 a0001c0002t0002g0042 others(10): Show |
13 | 266 | 0.0489 | -45 | c.189 others(64): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 163291264 | CCCCTCTG others(38): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp2 HG01361.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0002g0041 others(19): Show |
22 | 130 | 0.1692 | -45 | c.614 others(64): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACS2_chr14_105309748_105403147 | 105346768 | TTTCCCCC others(38): Show |
T | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 208 | 0.0048 | -45 | c.120 others(62): Show |
PACS2 | ENSG00000179364.15 | transcript | ENST00000447393.6 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PACS2_chr14_105309748_105403147 | 105346816 | CCCCCCCA others(38): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0142 |
2 | 208 | 0.0096 | -45 | c.120 others(62): Show |
PACS2 | ENSG00000179364.15 | transcript | ENST00000447393.6 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAFAH1B2_chr11_117139287_117176045 | 117172372 | ATATATAT others(38): Show |
A | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01074.hp2 HG01243.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0020a0001c0001t0024others(3): Show | a0001c0001t0005g0004 a0001c0001t0005g0009 a0001c0001t0005g0017 others(13): Show |
22 | 355 | 0.0620 | -45 | c.*46 others(56): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1328 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172374 | ATATATAT others(38): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp2 NA18993.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0024 | a0001c0001t0002g0241 a0001c0001t0003g0003 a0001c0001t0024g0101 |
3 | 347 | 0.0086 | -45 | c.*46 others(56): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1330 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172376 | ATATATAT others(38): Show |
A | downstream_gene_variant | MODIFIER | HG01081.hp2 HG03225.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014a0001c0001t0024 | a0001c0001t0006g0024 a0001c0001t0014g0024 a0001c0001t0024g0097 |
3 | 403 | 0.0074 | -45 | c.*46 others(56): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1332 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172378 | ATATATAT others(38): Show |
A | downstream_gene_variant | MODIFIER | HG02897.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0269 a0001c0001t0013g0045 |
2 | 402 | 0.0050 | -45 | c.*46 others(56): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1334 | chr11 | TogoVar | |||||||
PAK4_chr19_39120786_39184404 | 39147062 | TCAATTGA others(38): Show |
T | intron_variant | MODIFIER | HG03688.hp1 HG04204.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0070 a0001c0001t0008g0071 a0001c0001t0008g0177 |
3 | 125 | 0.0240 | -45 | c.-96 others(64): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300622 | TTTCTTTC others(38): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02004.hp2 HG02523.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0066 others(3): Show |
6 | 282 | 0.0213 | -45 | c.-27 others(64): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69365046 | AATTTTAT others(38): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0247 | 1 | 4 | 0.2500 | -45 | c.51+ others(60): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARD6G_chr18_80152232_80252514 | 80246598 | AGGTGGGG others(38): Show |
A | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0363 | 1 | 380 | 0.0026 | -45 | c.72+ others(58): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 1/2 | chr18 | TogoVar | |||||||
PARL_chr3_183824271_183889880 | 183882221 | AAATATAT others(38): Show |
A | intron_variant | MODIFIER | HG01167.hp1 NA18612.hp1 NA18985.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0086 others(2): Show |
5 | 320 | 0.0156 | -45 | c.125 others(62): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
PARP12_chr7_140018749_140067951 | 140035984 | GAGGAGGA others(38): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG01261.hp1 HG01361.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0005g0166 others(4): Show |
8 | 358 | 0.0223 | -45 | c.132 others(64): Show |
PARP12 | ENSG00000059378.13 | transcript | ENST00000263549.8 | protein_coding | 7/11 | chr7 | TogoVar | |||||||
PARP12_chr7_140018749_140067951 | 140035993 | GAGGAGGA others(38): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01069.hp1 others(14): Show |
a0002a0008 | a0002c0004a0008c0016 | a0002c0004t0003a0008c0016t0003 | a0002c0004t0003g0019 a0002c0004t0003g0020 a0002c0004t0003g0021 others(10): Show |
17 | 306 | 0.0556 | -45 | c.132 others(64): Show |
PARP12 | ENSG00000059378.13 | transcript | ENST00000263549.8 | protein_coding | 7/11 | chr7 | TogoVar | |||||||
PARP15_chr3_122572650_122644047 | 122603029 | CCTTTATT others(38): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0327 | 1 | 354 | 0.0028 | -45 | c.187 others(62): Show |
PARP15 | ENSG00000173200.13 | transcript | ENST00000464300.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79613943 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 224 | 0.0045 | -45 | c.649 others(60): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613947 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 250 | 0.0040 | -45 | c.649 others(60): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613959 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0005 | a0005c0007 | a0005c0007t0034 | a0005c0007t0034g0254 | 1 | 239 | 0.0042 | -45 | c.649 others(60): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79632302 | TATATACA others(38): Show |
T | intron_variant | MODIFIER | NA18992.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0196 | 1 | 241 | 0.0041 | -45 | c.517 others(64): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 36973090 | GAAAGGAA others(38): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp2 HG01109.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(17): Show | a0001c0001t0001g0103 a0001c0001t0001g0121 a0001c0001t0001g0128 others(26): Show |
29 | 272 | 0.1066 | -45 | c.605 others(62): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32761695 | TCAGCACT others(38): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02886.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0059 a0001c0001t0001g0060 |
3 | 358 | 0.0084 | -45 | c.871 others(60): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 4/17 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45814435 | GATGAGTG others(38): Show |
G | intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270 | 1 | 290 | 0.0034 | -45 | c.-12 others(66): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | chr21 | TogoVar | |||||||
PCDH17_chr13_57626744_57734311 | 57715402 | GAGTGTGT others(38): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0141 | 1 | 308 | 0.0032 | -45 | c.279 others(64): Show |
PCDH17 | ENSG00000118946.12 | transcript | ENST00000377918.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCDH20_chr13_61404685_61420849 | 61416165 | CCCCCTTT others(38): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0003 | 1 | 456 | 0.0022 | -45 | c.-10 others(56): Show |
PCDH20 | ENSG00000280165.2 | transcript | ENST00000409204.5 | protein_coding | 317 | chr13 | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 31056478 | AAAGAAAG others(38): Show |
A | intron_variant | MODIFIER | HG02015.hp2 NA18612.hp1 NA18959.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002a0001c0002t0038 | a0001c0001t0005g0024 a0001c0002t0002g0164 a0001c0002t0038g0130 |
3 | 214 | 0.0140 | -45 | c.339 others(66): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 716435 | CGTCGGTG others(38): Show |
C | intron_variant | MODIFIER | NA18983.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 a0001c0001t0002g0189 |
2 | 364 | 0.0055 | -45 | c.-19 others(66): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17347855 | AGAAAGAG others(38): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02976.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0014a0001c0001t0031a0001c0005t0012 | a0001c0001t0014g0007 a0001c0001t0031g0070 a0001c0005t0012g0049 |
3 | 263 | 0.0114 | -45 | c.283 others(64): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | chr20 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101360584 | GGGGGCCT others(38): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG01123.hp2 HG02258.hp1 others(2): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0273 a0001c0002t0001g0156 a0001c0003t0001g0062 others(2): Show |
5 | 334 | 0.0150 | -45 | c.185 others(64): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 13/21 | chr15 | TogoVar | |||||||
PC_chr11_66843420_66963383 | 66873463 | TTATATAT others(38): Show |
T | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 272 | 0.0037 | -45 | c.1-1 others(58): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 3/22 | chr11 | TogoVar | |||||||
PDE1A_chr2_182135041_182432036 | 182385704 | GCTCTCCC others(38): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(111): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0066 others(111): Show |
114 | 149 | 0.7651 | -45 | c.53+ others(62): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 657494 | GGTGCGGC others(38): Show |
G | splice_region_variant others(1): Show |
LOW | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 306 | 0.0033 | -45 | c.140 others(59): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE6G_chr17_81645459_81661542 | 81659528 | GGCGGAGG others(38): Show |
G | upstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 432 | 0.0023 | -45 | c.-31 others(56): Show |
PDE6G | ENSG00000185527.12 | transcript | ENST00000331056.10 | protein_coding | 2987 | chr17 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 510722 | GGGAGAGG others(38): Show |
G | intron_variant | MODIFIER | HG02280.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0071 | a0001c0001t0025g0277 a0001c0001t0071g0116 |
2 | 285 | 0.0070 | -45 | c.453 others(58): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 511292 | TGGGGAGA others(38): Show |
T | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 300 | 0.0033 | -45 | c.266 others(60): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39247876 | AAAAAAAA others(38): Show |
A | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013 | a0001c0001t0004g0086 a0001c0001t0013g0085 |
2 | 341 | 0.0059 | -45 | c.-39 others(56): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2895 | chr22 | TogoVar | |||||||
PDILT_chr16_20354175_20409737 | 20373282 | TGGCCAGA others(38): Show |
T | intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 404 | 0.0025 | -45 | c.682 others(60): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
PDYN_chr20_1973759_1999058 | 1995244 | CAGTTGGT others(38): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 388 | 0.0026 | -45 | c.-14 others(56): Show |
PDYN | ENSG00000101327.9 | transcript | ENST00000217305.3 | protein_coding | 1187 | chr20 | TogoVar | |||||||
PER2_chr2_238239044_238293610 | 238269415 | TAACCTGC others(38): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00733.hp1 HG01069.hp2 others(32): Show |
a0001a0006a0008 | a0001c0005a0001c0028a0006c0011others(1): Show | a0001c0005t0003a0001c0005t0012a0001c0005t0013others(5): Show | a0001c0005t0003g0277 a0001c0005t0003g0279 a0001c0005t0003g0280 others(30): Show |
35 | 368 | 0.0951 | -45 | c.773 others(60): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 6/22 | chr2 | TogoVar | |||||||
PER2_chr2_238239044_238293610 | 238269529 | GGTGCACT others(38): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00642.hp1 others(69): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0014a0001c0001t0023a0001c0001t0036others(20): Show | a0001c0001t0014g0010 a0001c0001t0014g0030 a0001c0001t0023g0031 others(55): Show |
72 | 366 | 0.1967 | -45 | c.773 others(60): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 6/22 | chr2 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7190512 | GGCCTCTG others(38): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(383): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(273): Show |
386 | 423 | 0.9125 | -45 | c.147 others(59): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197050 | ATTATATA others(38): Show |
A | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 416 | 0.0024 | -45 | c.449 others(62): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230395063 | ACTCCCTC others(38): Show |
A | intron_variant | MODIFIER | HG01358.hp1 NA18998.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0031a0001c0002t0001 | a0001c0001t0031g0102 a0001c0002t0001g0137 |
2 | 285 | 0.0070 | -45 | c.331 others(64): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230396218 | TTCCTCCT others(38): Show |
T | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0204 | 1 | 120 | 0.0083 | -45 | c.331 others(64): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230396223 | CCTTTTTA others(38): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp1 HG02965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0029a0001c0001t0050others(3): Show | a0001c0001t0007g0100 a0001c0001t0007g0108 a0001c0001t0029g0042 others(4): Show |
7 | 286 | 0.0245 | -45 | c.331 others(64): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
PHKG2_chr16_30743425_30766176 | 30749079 | GTGGTGGT others(38): Show |
G | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 213 | 0.0047 | -45 | c.95+ others(58): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 589881 | ATGTCTGC others(38): Show |
A | intron_variant | MODIFIER | HG01433.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0085 | 1 | 266 | 0.0038 | -45 | c.421 others(62): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PIAS1_chr15_68049315_68198847 | 68090479 | AGGCTTCT others(38): Show |
A | intron_variant | MODIFIER | HG00438.hp2 NA18612.hp1 NA18982.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0016 a0001c0002t0005g0017 a0001c0002t0005g0018 others(4): Show |
7 | 258 | 0.0271 | -45 | c.469 others(62): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |