| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PCDHB14_chr5_141218343_141232759 | 141221429 | G | GTGTATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 NA19030.hp2 |
a0001a0008 | a0001c0004a0008c0012 | a0001c0004t0004a0008c0012t0003 | a0001c0004t0004g0000a0008c0012t0003g0000 | 2 | 448 | 0.0045 | 30 | c.-20 others(41): Show |
PCDHB14 | ENSG00000120327.7 | transcript | ENST00000239449.7 | protein_coding | 1913 | chr5 | TogoVar | ||||||
| PCDHB14_chr5_141218343_141232759 | 141221511 | G | GTATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG02572.hp2 HG02647.hp1 others(1): Show |
a0005 | a0005c0008 | a0005c0008t0003a0005c0008t0014 | a0005c0008t0003g0000a0005c0008t0014g0000 | 4 | 448 | 0.0089 | 30 | c.-19 others(41): Show |
PCDHB14 | ENSG00000120327.7 | transcript | ENST00000239449.7 | protein_coding | 1831 | chr5 | TogoVar | ||||||
| PCDHB3_chr5_141095473_141108827 | 141106388 | A | AAATTATG others(23): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0015 | a0015c0024 | a0015c0024t0015 | a0015c0024t0015g0000 | 1 | 424 | 0.0024 | 30 | c.*33 others(41): Show |
PCDHB3 | ENSG00000113205.5 | transcript | ENST00000231130.3 | protein_coding | 2562 | chr5 | TogoVar | ||||||
| PCED1A_chr20_2830314_2845655 | 2842662 | A | ATAGATGT others(23): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00544.hp1 others(100): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0018others(10): Show | 103 | 436 | 0.2362 | 30 | c.-25 others(41): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2008 | chr20 | TogoVar | ||||||
| PCED1A_chr20_2830314_2845655 | 2842706 | A | ATATATAT others(23): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0020 | 1 | 436 | 0.0023 | 30 | c.-25 others(41): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2052 | chr20 | TogoVar | ||||||
| PCED1B_chr12_47074621_47241660 | 47089461 | C | CATGTATA others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02735.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0160a0001c0002t0001g0159 | 2 | 322 | 0.0062 | 30 | c.-60 others(49): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PCED1B_chr12_47074621_47241660 | 47217470 | G | GAAAAAGA others(23): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 322 | 0.0031 | 30 | c.-58 others(45): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PCGF5_chr10_91215663_91289337 | 91238603 | T | TTCTTTCT others(23): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0206 | 1 | 318 | 0.0031 | 30 | c.113 others(47): Show |
PCGF5 | ENSG00000180628.15 | transcript | ENST00000336126.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PCLO_chr7_82749012_83167884 | 83057348 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 188 | 0.0053 | 30 | c.330 others(51): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
| PCLO_chr7_82749012_83167884 | 83093472 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0004 | a0004c0002 | a0004c0002t0027 | a0004c0002t0027g0149 | 1 | 188 | 0.0053 | 30 | c.330 others(51): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
| PCLO_chr7_82749012_83167884 | 83134242 | T | TATATATA others(23): Show |
splice_region_variant others(1): Show |
LOW | HG02273.hp1 HG03688.hp1 |
a0003a0027 | a0003c0091a0027c0088 | a0003c0091t0001a0027c0088t0001 | a0003c0091t0001g0162a0027c0088t0001g0156 | 2 | 188 | 0.0106 | 30 | c.330 others(43): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
| PCLO_chr7_82749012_83167884 | 83155517 | T | TGCTGAGC others(23): Show |
conservative_inframe_insertion | MODERATE | HG00544.hp2 HG01099.hp2 HG01109.hp1 others(26): Show |
a0003a0005a0010others(8): Show | a0003c0022a0003c0023a0003c0085others(16): Show | a0003c0022t0003a0003c0023t0002a0003c0023t0005others(18): Show | a0003c0022t0003g0166a0003c0022t0003g0167a0003c0023t0002g0165others(26): Show | 29 | 188 | 0.1543 | 30 | c.109 others(39): Show |
p.Pro others(13): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 2/25 | 1415/20284 | 1123/15429 | 375/5142 | chr7 | TogoVar | ||
| PCMT1_chr6_149744741_149816419 | 149762689 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0035 | 1 | 334 | 0.0030 | 30 | c.56- others(45): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PCNX1_chr14_70902459_71120382 | 70910040 | T | TCCTCCCC others(23): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01952.hp2 HG02074.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020a0001c0001t0043 | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0020g0022others(3): Show | 6 | 352 | 0.0171 | 30 | c.153 others(47): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PCNX1_chr14_70902459_71120382 | 70910064 | C | CCCCCCTC others(23): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0216 | 1 | 352 | 0.0028 | 30 | c.153 others(47): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PCNX1_chr14_70902459_71120382 | 70910067 | T | TCCTCCCC others(23): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03688.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0040a0001c0014t0004 | a0001c0001t0040g0005a0001c0014t0004g0241 | 2 | 352 | 0.0057 | 30 | c.153 others(47): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PCNX1_chr14_70902459_71120382 | 70910097 | C | CCCTCCTC others(23): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0317 | 1 | 352 | 0.0028 | 30 | c.153 others(47): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PCNX1_chr14_70902459_71120382 | 70910115 | T | TCCTCCTC others(23): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0261 | 1 | 352 | 0.0028 | 30 | c.153 others(47): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PCNX1_chr14_70902459_71120382 | 70910118 | T | TCCTCCTC others(23): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 352 | 0.0028 | 30 | c.153 others(47): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PCNX1_chr14_70902459_71120382 | 70910148 | T | TCCCCCTC others(23): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0157a0001c0001t0008g0198 | 2 | 352 | 0.0057 | 30 | c.153 others(47): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PCNX1_chr14_70902459_71120382 | 70910171 | C | CTCCTCCT others(23): Show |
intron_variant | MODIFIER | NA18979.hp1 NA19007.hp2 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0009 | a0001c0002t0007g0106a0001c0002t0009g0070 | 2 | 352 | 0.0057 | 30 | c.153 others(47): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PCNX1_chr14_70902459_71120382 | 70910189 | C | CTCCTCCT others(23): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0002 | 1 | 352 | 0.0028 | 30 | c.153 others(47): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PCNX1_chr14_70902459_71120382 | 70949282 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(57): Show |
a0001 | a0001c0002a0001c0004a0001c0008 | a0001c0002t0005a0001c0002t0007a0001c0002t0009others(9): Show | a0001c0002t0005g0001a0001c0002t0005g0055a0001c0002t0005g0056others(56): Show | 60 | 352 | 0.1705 | 30 | c.362 others(47): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PCNX1_chr14_70902459_71120382 | 70994396 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01071.hp1 HG02523.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0027others(1): Show | a0001c0001t0001g0182a0001c0001t0008g0115a0001c0001t0008g0198others(3): Show | 6 | 352 | 0.0171 | 30 | c.244 others(49): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 7/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PCNX1_chr14_70902459_71120382 | 71119428 | C | CTTTTTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG01952.hp1 HG02132.hp2 others(7): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0002t0005a0001c0002t0006others(4): Show | a0001c0002t0003g0254a0001c0002t0003g0300a0001c0002t0003g0340others(7): Show | 10 | 352 | 0.0284 | 30 | c.*94 others(41): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 4047 | chr14 | TogoVar | ||||||
| PCOLCE2_chr3_142812874_142894083 | 142893993 | A | ATTATTAT others(23): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0083 | 1 | 342 | 0.0029 | 30 | c.-50 others(41): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 4911 | chr3 | TogoVar | ||||||
| PCOLCE2_chr3_142812874_142894083 | 142893993 | A | ATTATTAT others(23): Show |
upstream_gene_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0094 | 1 | 342 | 0.0029 | 30 | c.-50 others(41): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 4911 | chr3 | TogoVar | ||||||
| PCOLCE2_chr3_142812874_142894083 | 142893993 | A | ATTATTAT others(23): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0095a0001c0001t0006g0093 | 2 | 342 | 0.0059 | 30 | c.-50 others(41): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 4911 | chr3 | TogoVar | ||||||
| PCSK2_chr20_17222040_17489578 | 17333910 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01978.hp1 HG02148.hp1 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0001g0121a0001c0001t0005g0084a0001c0001t0005g0092others(9): Show | 12 | 274 | 0.0438 | 30 | c.283 others(49): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PCSK2_chr20_17222040_17489578 | 17484865 | G | GATAGAAT others(23): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00642.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0129a0001c0001t0001g0164a0001c0001t0002g0063others(22): Show | 25 | 274 | 0.0912 | 30 | c.*27 others(41): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 288 | chr20 | TogoVar | ||||||
| PCSK2_chr20_17222040_17489578 | 17484865 | G | GATAGGAT others(23): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02559.hp1 HG02896.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0012a0001c0009t0020 | a0001c0001t0012g0132a0001c0001t0012g0211a0001c0009t0020g0190 | 3 | 274 | 0.0110 | 30 | c.*27 others(41): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 288 | chr20 | TogoVar | ||||||
| PCSK4_chr19_1476428_1495350 | 1493708 | G | GACACACA others(23): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 HG02809.hp2 NA18975.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0002g0002others(2): Show | 6 | 400 | 0.0150 | 30 | c.-33 others(41): Show |
PCSK4 | ENSG00000115257.15 | transcript | ENST00000300954.10 | protein_coding | 3359 | chr19 | TogoVar | ||||||
| PCSK4_chr19_1476428_1495350 | 1493708 | G | GACACACA others(23): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 400 | 0.0025 | 30 | c.-33 others(41): Show |
PCSK4 | ENSG00000115257.15 | transcript | ENST00000300954.10 | protein_coding | 3359 | chr19 | TogoVar | ||||||
| PCSK5_chr9_75885673_76367975 | 76040385 | G | GTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0040 | a0040c0082 | a0040c0082t0001 | a0040c0082t0001g0075 | 1 | 166 | 0.0060 | 30 | c.632 others(49): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PCSK5_chr9_75885673_76367975 | 76040387 | C | CTCTCTGT others(23): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0035 | a0035c0055 | a0035c0055t0010 | a0035c0055t0010g0002 | 1 | 166 | 0.0060 | 30 | c.632 others(49): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PCSK6_chr15_101298933_101494707 | 101412691 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02630.hp2 HG02647.hp1 others(2): Show |
a0001a0002a0006 | a0001c0003a0001c0009a0001c0036others(2): Show | a0001c0003t0001a0001c0009t0001a0001c0036t0001others(2): Show | a0001c0003t0001g0044a0001c0009t0001g0155a0001c0036t0001g0110others(2): Show | 5 | 336 | 0.0149 | 30 | c.824 others(49): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 6/21 | chr15 | TogoVar | ||||||
| PCSK7_chr11_117199337_117237073 | 117215380 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01928.hp2 HG01993.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0024a0001c0001t0002g0054a0001c0001t0002g0128others(23): Show | 27 | 460 | 0.0587 | 30 | c.153 others(49): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
| PCSK7_chr11_117199337_117237073 | 117215380 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG04199.hp2 NA18949.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0157a0001c0001t0007g0311 | 2 | 460 | 0.0044 | 30 | c.153 others(49): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
| PCSK7_chr11_117199337_117237073 | 117215380 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0266 | 1 | 460 | 0.0022 | 30 | c.153 others(49): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
| PCSK7_chr11_117199337_117237073 | 117215380 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0023 | a0001c0023t0019 | a0001c0023t0019g0391 | 1 | 460 | 0.0022 | 30 | c.153 others(49): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
| PCYT1B_chrX_24553087_24652347 | 24637491 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0091 | a0001c0002t0091g0192 | 1 | 260 | 0.0039 | 30 | c.117 others(47): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | ||||||
| PC_chr11_66843420_66963383 | 66959935 | A | ATATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 274 | 0.0037 | 30 | c.-18 others(41): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 1553 | chr11 | TogoVar | ||||||
| PDCD6_chr5_266646_319974 | 309820 | T | TCCCCCGT others(23): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0204 | 1 | 360 | 0.0028 | 30 | c.368 others(47): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDC_chr1_186438566_186466114 | 186459752 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 404 | 0.0025 | 30 | c.-25 others(47): Show |
PDC | ENSG00000116703.14 | transcript | ENST00000391997.3 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
| PDE10A_chr6_165322289_165668241 | 165618974 | G | GTAGACTA others(23): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01081.hp1 others(16): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(9): Show | a0001c0001t0001g0023a0001c0001t0001g0100a0001c0001t0003g0009others(16): Show | 19 | 222 | 0.0856 | 30 | c.865 others(49): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
| PDE11A_chr2_177618244_178077777 | 177819860 | T | TTCTCTTT others(23): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02965.hp1 HG03654.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0035 | a0002c0002t0001g0099a0002c0002t0001g0101a0002c0002t0035g0021 | 3 | 170 | 0.0177 | 30 | c.157 others(47): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 7/19 | chr2 | TogoVar | ||||||
| PDE11A_chr2_177618244_178077777 | 177944803 | G | GCTCTCCC others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0142 | 1 | 170 | 0.0059 | 30 | c.107 others(51): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | ||||||
| PDE11A_chr2_177618244_178077777 | 177944822 | C | CTCTCCCT others(23): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0004 | a0002c0004t0028 | a0002c0004t0028g0106 | 1 | 170 | 0.0059 | 30 | c.107 others(51): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | ||||||
| PDE1A_chr2_182135041_182432036 | 182242926 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0193 | 1 | 264 | 0.0038 | 30 | c.168 others(47): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 2/14 | chr2 | TogoVar | ||||||
| PDE1A_chr2_182135041_182432036 | 182264878 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01071.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0134a0001c0001t0001g0172a0001c0001t0001g0173others(19): Show | 22 | 264 | 0.0833 | 30 | c.54- others(43): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar |