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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE1A_chr2_182135041_182432036 | 182384458 | A | ATAATAAT | intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0013others(1): Show | a0001c0001t0003g0048a0001c0001t0008g0261a0001c0001t0013g0046others(1): Show | 4 | 264 | 0.0152 | 7 | c.53+ others(24): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31924577 | C | CCTGTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00609.hp1 others(121): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0013a0001c0001t0001g0030a0001c0001t0001g0037others(121): Show | 124 | 262 | 0.4733 | 7 | c.129 others(26): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 32005578 | A | AAAAAAAC | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0015a0001c0001t0003g0014a0001c0001t0004g0121others(4): Show | 7 | 262 | 0.0267 | 7 | c.128 others(26): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PDE2A_chr11_72571141_72679422 | 72664364 | A | ATTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01069.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0184a0001c0001t0001g0216a0001c0001t0001g0224others(16): Show | 19 | 292 | 0.0651 | 7 | c.71+ others(22): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 1/30 | chr11 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20386070 | A | AAATATAT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00544.hp1 others(57): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(45): Show | a0001c0001t0001g0105a0001c0001t0001g0132a0001c0001t0002g0055others(57): Show | 60 | 198 | 0.3030 | 7 | c.960 others(26): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3A_chr12_20363537_20693583 | 20448751 | G | GTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(36): Show |
a0001a0002a0009 | a0001c0001a0001c0006a0001c0017others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0105a0001c0001t0002g0055a0001c0001t0002g0087others(36): Show | 39 | 198 | 0.1970 | 7 | c.960 others(26): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | chr12 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20481764 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(54): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(45): Show | a0001c0001t0001g0114a0001c0001t0001g0128a0001c0001t0001g0154others(54): Show | 57 | 198 | 0.2879 | 7 | c.961 others(26): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3A_chr12_20363537_20693583 | 20654497 | G | GTTTGTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(136): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(112): Show | a0001c0001t0002g0033a0001c0001t0002g0055a0001c0001t0002g0056others(136): Show | 139 | 198 | 0.7020 | 7 | c.318 others(24): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3A_chr12_20363537_20693583 | 20685814 | T | TGATTTCC | 3_prime_UTR_variant | MODIFIER | HG03471.hp2 NA18522.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0037a0002c0002t0111 | a0001c0003t0037g0183a0002c0002t0111g0065 | 2 | 198 | 0.0101 | 7 | c.*55 others(18): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 16/16 | 5551 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
PDE4A_chr19_10415538_10474630 | 10425984 | C | CAAAAAAA | intron_variant | MODIFIER | HG02602.hp1 HG02615.hp2 HG03486.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0005a0001c0001t0030a0001c0001t0033others(1): Show | a0001c0001t0005g0211a0001c0001t0005g0303a0001c0001t0030g0210others(6): Show | 9 | 322 | 0.0280 | 7 | c.320 others(24): Show |
PDE4A | ENSG00000065989.16 | transcript | ENST00000380702.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PDE4B_chr1_65787895_66379574 | 66090616 | A | ATATATAT | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01109.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0076a0001c0001t0001g0087a0001c0001t0004g0036others(5): Show | 8 | 118 | 0.0678 | 7 | c.282 others(28): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | chr1 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 66090616 | A | ATATGTGT | intron_variant | MODIFIER | HG02148.hp1 HG03654.hp1 HG04199.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0069a0001c0002t0001g0012a0001c0002t0001g0014 | 3 | 118 | 0.0254 | 7 | c.282 others(28): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | chr1 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59108906 | C | CAAAAAAA | intron_variant | MODIFIER | HG01169.hp2 HG01257.hp1 HG01361.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0024a0001c0001t0001g0034a0001c0001t0001g0048others(16): Show | 19 | 74 | 0.2568 | 7 | c.809 others(26): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 5/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59156320 | A | ATATATAT | intron_variant | MODIFIER | HG00140.hp1 HG01261.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0049a0001c0001t0002g0032a0001c0001t0005g0008others(1): Show | 4 | 74 | 0.0541 | 7 | c.808 others(26): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 5/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59162853 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG01071.hp2 HG01169.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0015others(20): Show | 23 | 74 | 0.3108 | 7 | c.808 others(26): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 5/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59404664 | T | TAAAAAAA | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0056a0001c0001t0002g0023others(2): Show | 5 | 74 | 0.0676 | 7 | c.456 others(28): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59612237 | T | TTTTTTTG | intron_variant | MODIFIER | HG01071.hp1 HG01515.hp2 HG03239.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019a0001c0001t0001g0051a0001c0001t0002g0023others(1): Show | 4 | 74 | 0.0541 | 7 | c.455 others(28): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59653208 | A | ATTTTTTT | intron_variant | MODIFIER | HG02896.hp2 HG03486.hp1 HG03540.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0014others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0037a0001c0001t0001g0038others(5): Show | 8 | 74 | 0.1081 | 7 | c.455 others(28): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59872300 | C | CACACACA | intron_variant | MODIFIER | HG01952.hp1 HG02717.hp1 HG03017.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0024a0001c0001t0002g0023others(3): Show | 6 | 74 | 0.0811 | 7 | c.455 others(26): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE5A_chr4_119489403_119633804 | 119592456 | T | TAAAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG01074.hp2 HG01167.hp2 others(39): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0002a0001c0002t0004a0001c0002t0024others(3): Show | a0001c0002t0002g0002a0001c0002t0002g0027a0001c0002t0002g0033others(38): Show | 42 | 336 | 0.1250 | 7 | c.831 others(24): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 3/20 | chr4 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149920942 | A | AAAGAAAG | intron_variant | MODIFIER | HG01346.hp1 HG02109.hp1 HG02451.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0012 | a0001c0001t0036a0002c0003t0026a0002c0003t0043others(1): Show | a0001c0001t0036g0131a0002c0003t0026g0214a0002c0003t0026g0218others(2): Show | 5 | 328 | 0.0152 | 7 | c.933 others(22): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 5/21 | chr5 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149947611 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01257.hp1 HG02132.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0045a0001c0001t0003g0005a0001c0001t0004g0041others(5): Show | 8 | 328 | 0.0244 | 7 | c.-29 others(18): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 2819 | chr5 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 669113 | C | CTATTTAT | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02622.hp1 |
a0001 | a0001c0009 | a0001c0009t0009 | a0001c0009t0009g0050a0001c0009t0009g0263a0001c0009t0009g0264 | 3 | 308 | 0.0097 | 7 | c.250 others(24): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDE6C_chr10_93607537_93671010 | 93611339 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0030a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0026others(64): Show | 67 | 384 | 0.1745 | 7 | c.-13 others(18): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 1197 | chr10 | TogoVar | ||||||
PDE6C_chr10_93607537_93671010 | 93627258 | C | CAAGAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00733.hp2 others(18): Show |
a0002a0005 | a0002c0003a0002c0009a0005c0012 | a0002c0003t0001a0002c0009t0001a0005c0012t0001others(1): Show | a0002c0003t0001g0006a0002c0003t0001g0154a0002c0003t0001g0160others(18): Show | 21 | 384 | 0.0547 | 7 | c.107 others(24): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PDE6C_chr10_93607537_93671010 | 93636368 | T | TGTGTGTG | intron_variant | MODIFIER | HG01517.hp1 HG03688.hp2 NA18939.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158a0001c0001t0001g0174a0001c0001t0001g0320 | 3 | 384 | 0.0078 | 7 | c.141 others(24): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 10/21 | chr10 | TogoVar | ||||||
PDE6C_chr10_93607537_93671010 | 93654811 | T | TTTCTTTC | intron_variant | MODIFIER | HG02155.hp1 HG02602.hp2 HG02717.hp2 others(5): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0031 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0109others(5): Show | 8 | 384 | 0.0208 | 7 | c.193 others(24): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PDE7A_chr8_65709334_65847064 | 65730171 | C | CTTTTTTT | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0025others(2): Show | a0001c0001t0010g0035a0001c0001t0010g0036a0001c0001t0011g0044others(4): Show | 7 | 248 | 0.0282 | 7 | c.697 others(24): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 7/12 | chr8 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135871847 | G | GTAACTAT | intron_variant | MODIFIER | HG00544.hp1 HG01081.hp1 HG01109.hp1 others(26): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0031others(26): Show | 29 | 142 | 0.2042 | 7 | c.21+ others(24): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135935109 | A | ATATATAT | intron_variant | MODIFIER | HG01081.hp2 HG01261.hp1 HG01978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0082a0001c0001t0001g0088a0001c0001t0012g0137 | 3 | 142 | 0.0211 | 7 | c.22- others(24): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135935127 | T | TTTTTATA | intron_variant | MODIFIER | HG01081.hp2 HG01175.hp1 HG01261.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0082a0001c0001t0001g0088a0001c0001t0003g0049others(3): Show | 6 | 142 | 0.0423 | 7 | c.22- others(24): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135995578 | T | TTATTCCC | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02280.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0016a0001c0001t0001g0066a0001c0001t0001g0071others(13): Show | 16 | 142 | 0.1127 | 7 | c.82+ others(24): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 136191013 | C | CTTTTTTT | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0037 | a0001c0001t0002g0023a0001c0001t0002g0091a0001c0001t0002g0092others(2): Show | 5 | 142 | 0.0352 | 7 | c.112 others(24): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 136195647 | C | CCACTGCT | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02615.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0006a0001c0001t0015a0001c0001t0034others(16): Show | a0001c0001t0006g0116a0001c0001t0015g0018a0001c0001t0015g0093others(20): Show | 23 | 142 | 0.1620 | 7 | c.*38 others(18): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 74 | chr6 | TogoVar | ||||||
PDE8A_chr15_84976856_85144142 | 85065332 | T | TGGGGAGG | intron_variant | MODIFIER | HG01255.hp1 HG01433.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0314a0001c0002t0001g0315a0001c0002t0001g0316others(5): Show | 8 | 344 | 0.0233 | 7 | c.243 others(22): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 85095875 | T | TATATATA | intron_variant | MODIFIER | HG00733.hp1 HG01109.hp1 HG01175.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0257a0001c0001t0002g0258a0001c0001t0002g0259others(4): Show | 7 | 344 | 0.0204 | 7 | c.853 others(24): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
PDE8A_chr15_84976856_85144142 | 85140288 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01167.hp1 HG01433.hp1 others(6): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0001a0008c0011t0001 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0079others(6): Show | 9 | 344 | 0.0262 | 7 | c.*23 others(18): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 1147 | chr15 | TogoVar | ||||||
PDE8B_chr5_77205680_77433256 | 77397026 | A | ATTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG02647.hp2 HG03486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0011 | a0001c0001t0007g0033a0001c0001t0007g0311a0001c0001t0009g0191others(3): Show | 6 | 314 | 0.0191 | 7 | c.116 others(26): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42653528 | A | AGGGAGGG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(54): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0105a0001c0001t0002g0049a0001c0001t0002g0051others(53): Show | 57 | 324 | 0.1759 | 7 | c.-28 others(16): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 92 | chr21 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42653531 | G | GAGGGGGA | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02257.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0033a0001c0001t0001g0146a0001c0001t0001g0235others(12): Show | 15 | 324 | 0.0463 | 7 | c.-28 others(16): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 89 | chr21 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42654068 | C | CTGGGGGG | intron_variant | MODIFIER | HG00099.hp1 HG01123.hp2 HG01255.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0314a0001c0001t0001g0316a0001c0002t0001g0313others(7): Show | 10 | 324 | 0.0309 | 7 | c.69+ others(20): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42668898 | A | ACCCCCCC | intron_variant | MODIFIER | HG01243.hp1 HG01516.hp1 HG01884.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0176a0001c0001t0001g0214a0001c0001t0001g0240others(11): Show | 14 | 324 | 0.0432 | 7 | c.69+ others(24): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42670230 | T | TCACACAC | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01123.hp2 others(9): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0177a0001c0001t0001g0179a0001c0001t0001g0180others(9): Show | 12 | 324 | 0.0370 | 7 | c.70- others(24): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 1/19 | chr21 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 499720 | T | TCCCCCCC | intron_variant | MODIFIER | HG00609.hp1 HG01081.hp2 HG01175.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0207a0001c0001t0001g0231others(12): Show | 16 | 302 | 0.0530 | 7 | c.581 others(24): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 5/5 | chr7 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156804097 | T | TAAAGAGA | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00639.hp2 others(102): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0120a0001c0001t0001g0174a0001c0001t0002g0005others(102): Show | 105 | 208 | 0.5048 | 7 | c.495 others(24): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 3/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156850829 | T | TAAAAATA | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00639.hp2 others(132): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0072a0001c0001t0001g0108a0001c0001t0001g0109others(132): Show | 135 | 208 | 0.6490 | 7 | c.119 others(22): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156903125 | G | GTGTGTGT | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp2 HG01109.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(4): Show | a0001c0001t0001g0045a0001c0001t0001g0058a0001c0001t0001g0079others(20): Show | 23 | 208 | 0.1106 | 7 | c.119 others(26): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156903132 | T | TTGTGTGC | intron_variant | MODIFIER | HG02155.hp2 NA18961.hp1 NA18964.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0006 | a0001c0002t0002g0061a0001c0002t0002g0080a0001c0002t0002g0167others(4): Show | 7 | 208 | 0.0337 | 7 | c.119 others(26): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104119362 | G | GATATAAT | intron_variant | MODIFIER | HG00741.hp1 HG03654.hp1 NA18985.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0056a0001c0001t0002g0102a0001c0002t0001g0080 | 3 | 200 | 0.0150 | 7 | c.124 others(26): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104119404 | A | AATATAAT | intron_variant | MODIFIER | HG01081.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0127a0001c0002t0001g0126 | 2 | 200 | 0.0100 | 7 | c.124 others(26): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar |