regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE7A_chr8_65709334_65847064 | 65762991 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp1 HG01433.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(9): Show | a0001c0001t0002g0130a0001c0001t0002g0179a0001c0001t0002g0180others(20): Show | 23 | 248 | 0.0927 | -8 | c.284 others(27): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 3/12 | chr8 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65765488 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp2 NA18939.hp1 NA18951.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0027a0001c0001t0058 | a0001c0001t0005g0068a0001c0001t0005g0069a0001c0001t0005g0072others(3): Show | 6 | 248 | 0.0242 | -8 | c.283 others(27): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 3/12 | chr8 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65770121 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG01884.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0002g0108a0001c0001t0003g0132a0001c0001t0008g0194others(6): Show | 9 | 248 | 0.0363 | -8 | c.283 others(25): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 3/12 | chr8 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135905348 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03098.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024a0001c0001t0039 | a0001c0001t0001g0016a0001c0001t0024g0080a0001c0001t0039g0038 | 3 | 142 | 0.0211 | -8 | c.22- others(25): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135931951 | GCGCACAC others(1): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG03041.hp2 HG03209.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0005a0001c0001t0036a0001c0002t0018others(2): Show | a0001c0001t0005g0070a0001c0001t0036g0052a0001c0002t0018g0002others(2): Show | 5 | 142 | 0.0352 | -8 | c.22- others(25): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135935190 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02723.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0025a0001c0001t0030others(1): Show | a0001c0001t0002g0095a0001c0001t0025g0010a0001c0001t0030g0053others(1): Show | 4 | 142 | 0.0282 | -8 | c.22- others(25): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135945072 | AATCACTT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00741.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0016a0001c0001t0001g0057a0001c0001t0001g0058others(40): Show | 43 | 142 | 0.3028 | -8 | c.22- others(23): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135948843 | CTAGATAG others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00741.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0013a0001c0001t0001g0031a0001c0001t0001g0058others(40): Show | 43 | 142 | 0.3028 | -8 | c.82+ others(23): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135961273 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp1 others(17): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0065others(17): Show | 20 | 142 | 0.1409 | -8 | c.82+ others(25): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135987834 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG03942.hp2 NA18983.hp2 NA18995.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0066a0001c0001t0001g0071a0001c0001t0004g0078others(1): Show | 4 | 142 | 0.0282 | -8 | c.82+ others(25): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135994116 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp2 HG01081.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0057a0001c0001t0001g0072a0001c0001t0001g0083others(14): Show | 17 | 142 | 0.1197 | -8 | c.82+ others(25): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135997413 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp1 HG02895.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0123a0001c0001t0002g0026others(7): Show | 10 | 142 | 0.0704 | -8 | c.82+ others(25): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 85038214 | GGGGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01255.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0036others(28): Show | 31 | 344 | 0.0901 | -8 | c.187 others(27): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 85043680 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(161): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0004a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0009a0001c0001t0001g0036a0001c0001t0001g0038others(161): Show | 164 | 344 | 0.4767 | -8 | c.187 others(27): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 85066583 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00673.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0052others(20): Show | 23 | 344 | 0.0669 | -8 | c.244 others(23): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 85123337 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02145.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0104others(9): Show | 12 | 344 | 0.0349 | -8 | c.208 others(25): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8B_chr5_77205680_77433256 | 77225848 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00609.hp2 NA18979.hp1 NA18984.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0093a0001c0002t0001g0189a0001c0002t0001g0210 | 3 | 314 | 0.0096 | -8 | c.339 others(27): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDE8B_chr5_77205680_77433256 | 77233652 | CTCTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0003g0002others(6): Show | 9 | 314 | 0.0287 | -8 | c.339 others(27): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDE8B_chr5_77205680_77433256 | 77340600 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG02258.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0007a0001c0001t0003g0028a0001c0001t0005g0145others(4): Show | 7 | 314 | 0.0223 | -8 | c.797 others(25): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDE8B_chr5_77205680_77433256 | 77350571 | TGGCTGGG others(1): Show |
T | intron_variant | MODIFIER | HG02922.hp2 NA18522.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0042a0001c0002t0032a0001c0008t0003 | a0001c0001t0042g0017a0001c0002t0032g0037a0001c0008t0003g0018 | 3 | 314 | 0.0096 | -8 | c.101 others(25): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDE8B_chr5_77205680_77433256 | 77378009 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0018a0001c0002t0023 | a0001c0001t0003g0002a0001c0002t0018g0179a0001c0002t0023g0305others(1): Show | 4 | 314 | 0.0127 | -8 | c.116 others(29): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42654940 | TGCTGGGC others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02109.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0300a0001c0001t0001g0307a0001c0001t0002g0291others(15): Show | 18 | 324 | 0.0556 | -8 | c.69+ others(23): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42740575 | ATGGATGG others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp2 others(27): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0146a0001c0001t0001g0237a0001c0001t0001g0244others(27): Show | 30 | 324 | 0.0926 | -8 | c.569 others(25): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42740755 | GGATAGAT others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01255.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0239a0001c0001t0002g0155a0001c0001t0003g0008others(3): Show | 6 | 324 | 0.0185 | -8 | c.569 others(25): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDGFB_chr22_39218359_39249982 | 39220807 | GTGGATGG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG02145.hp1 HG03195.hp2 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0002g0243a0001c0001t0004g0082 | 3 | 386 | 0.0078 | -8 | c.*45 others(19): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2551 | chr22 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247863 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01258.hp1 HG02698.hp1 HG03130.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0022a0001c0001t0002g0025a0001c0001t0002g0208others(3): Show | 7 | 386 | 0.0181 | -8 | c.-39 others(19): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2882 | chr22 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39249779 | GCACACAC others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0003t0025 | a0001c0001t0002g0007a0001c0001t0004g0013a0001c0001t0004g0026others(1): Show | 6 | 386 | 0.0155 | -8 | c.-58 others(19): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 4798 | chr22 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156815323 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG01167.hp1 HG01515.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0002g0005a0001c0001t0002g0030a0001c0001t0002g0032others(38): Show | 41 | 208 | 0.1971 | -8 | c.315 others(25): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156821165 | TTGTATGT others(1): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0016others(1): Show | a0001c0001t0004g0093a0001c0001t0009g0035a0001c0001t0009g0099others(4): Show | 7 | 208 | 0.0337 | -8 | c.315 others(27): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156885152 | TACATACA others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00741.hp1 HG01099.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0014others(2): Show | a0001c0001t0003g0189a0001c0001t0003g0190a0001c0001t0003g0191others(20): Show | 23 | 208 | 0.1106 | -8 | c.119 others(27): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156920644 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG02040.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0016a0001c0001t0001g0154a0001c0002t0002g0050 | 3 | 208 | 0.0144 | -8 | c.118 others(27): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156922155 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02723.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(4): Show | a0001c0001t0001g0056a0001c0001t0004g0170a0001c0001t0004g0176others(7): Show | 10 | 208 | 0.0481 | -8 | c.118 others(27): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156945342 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01358.hp2 HG01891.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(26): Show | 29 | 208 | 0.1394 | -8 | c.118 others(27): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156974933 | AATATATA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02886.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0108a0001c0001t0002g0005a0001c0002t0002g0149 | 3 | 208 | 0.0144 | -8 | c.-40 others(19): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 3135 | chr4 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104087021 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01123.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(5): Show | a0001c0001t0002g0064a0001c0001t0002g0068a0001c0001t0002g0125others(17): Show | 20 | 200 | 0.1000 | -8 | c.124 others(27): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104103462 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(92): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(14): Show | a0001c0001t0002g0013a0001c0001t0002g0041a0001c0001t0002g0042others(92): Show | 95 | 200 | 0.4750 | -8 | c.124 others(27): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104119056 | TTAATATA others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02145.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0002g0109a0001c0001t0003g0074a0001c0001t0003g0112others(6): Show | 9 | 200 | 0.0450 | -8 | c.124 others(27): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104119389 | TATGATAT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01256.hp2 HG01891.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0002g0109a0001c0001t0002g0115a0001c0001t0002g0119others(19): Show | 22 | 200 | 0.1100 | -8 | c.124 others(27): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104119429 | AATATATT others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01928.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0002g0160a0001c0001t0003g0052a0001c0002t0001g0080others(2): Show | 5 | 200 | 0.0250 | -8 | c.124 others(27): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDGFRA_chr4_54224293_54303245 | 54284556 | GAGAGAGA others(1): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG01258.hp2 HG03017.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0131a0001c0001t0001g0177a0001c0001t0004g0141others(1): Show | 4 | 300 | 0.0133 | -8 | c.232 others(25): Show |
PDGFRA | ENSG00000134853.12 | transcript | ENST00000257290.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDGFRA_chr4_54224293_54303245 | 54286319 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG02040.hp2 HG02132.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0007t0008others(3): Show | a0001c0001t0001g0008a0001c0001t0001g0245a0001c0001t0001g0247others(12): Show | 16 | 300 | 0.0533 | -8 | c.256 others(25): Show |
PDGFRA | ENSG00000134853.12 | transcript | ENST00000257290.10 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDGFRA_chr4_54224293_54303245 | 54301889 | AGAACACA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG02622.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0025a0001c0027others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0025t0001others(2): Show | a0001c0001t0001g0149a0001c0001t0005g0043a0001c0025t0001g0166others(3): Show | 6 | 300 | 0.0200 | -8 | c.*66 others(19): Show |
PDGFRA | ENSG00000134853.12 | transcript | ENST00000257290.10 | protein_coding | 3645 | chr4 | TogoVar | ||||||
PDGFRB_chr5_150108839_150160845 | 150117540 | GCGCGCAC others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp2 HG00738.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0015a0001c0016others(3): Show | a0001c0001t0006a0001c0001t0020a0001c0001t0021others(7): Show | a0001c0001t0006g0006a0001c0001t0006g0049a0001c0001t0006g0115others(24): Show | 32 | 418 | 0.0766 | -8 | c.313 others(23): Show |
PDGFRB | ENSG00000113721.14 | transcript | ENST00000261799.9 | protein_coding | 22/22 | chr5 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17592911 | TACATGCA others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG01109.hp1 others(16): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0090a0001c0001t0001g0093a0001c0001t0001g0155others(15): Show | 19 | 400 | 0.0475 | -8 | c.353 others(25): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PDGFRL_chr8_17572216_17648144 | 17616169 | ATTATTTA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(75): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0025others(74): Show | 78 | 400 | 0.1950 | -8 | c.354 others(25): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PDGFRL_chr8_17572216_17648144 | 17638738 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01928.hp2 HG02015.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0025a0001c0001t0001g0093a0001c0001t0001g0185others(11): Show | 14 | 400 | 0.0350 | -8 | c.940 others(25): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PDHA1_chrX_19338927_19366718 | 19366006 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02559.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0138a0001c0002t0002g0006a0001c0002t0002g0016others(4): Show | 11 | 247 | 0.0445 | -8 | c.*63 others(19): Show |
PDHA1 | ENSG00000131828.14 | transcript | ENST00000422285.7 | protein_coding | 4289 | chrX | TogoVar | ||||||
PDHX_chr11_34911618_35001128 | 34922864 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02615.hp1 others(7): Show |
a0002a0009 | a0002c0004a0002c0008a0009c0028 | a0002c0004t0004a0002c0008t0006a0009c0028t0016 | a0002c0004t0004g0239a0002c0008t0006g0001a0002c0008t0006g0270others(5): Show | 10 | 314 | 0.0319 | -8 | c.160 others(25): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PDHX_chr11_34911618_35001128 | 34922892 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG01109.hp1 HG01243.hp1 others(11): Show |
a0001a0003a0011 | a0001c0013a0003c0006a0011c0025 | a0001c0013t0002a0003c0006t0001a0011c0025t0001 | a0001c0013t0002g0213a0003c0006t0001g0202a0003c0006t0001g0203others(11): Show | 14 | 314 | 0.0446 | -8 | c.160 others(25): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PDHX_chr11_34911618_35001128 | 34931812 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02723.hp1 HG02922.hp1 others(1): Show |
a0001a0002a0009 | a0001c0002a0001c0017a0002c0008others(1): Show | a0001c0002t0007a0001c0017t0007a0002c0008t0006others(1): Show | a0001c0002t0007g0192a0001c0017t0007g0144a0002c0008t0006g0270others(1): Show | 4 | 314 | 0.0127 | -8 | c.241 others(23): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |