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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PSMD8_chr19_38369571_38388824 | 38372981 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00673.hp1 HG02080.hp2 NA18939.hp2 others(11): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005 a0001c0003t0001g0059 a0001c0003t0001g0060 others(2): Show |
14 | 253 | 0.0553 | 7 | c.-16 others(18): Show |
PSMD8 | ENSG00000099341.13 | transcript | ENST00000215071.9 | protein_coding | 1589 | chr19 | TogoVar | |||||||
PSME4_chr2_53859069_53975993 | 53876716 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(102): Show |
a0001a0002a0005others(4): Show | a0001c0005a0002c0002a0002c0003others(11): Show | a0001c0005t0009a0002c0002t0002a0002c0002t0004others(16): Show | a0001c0005t0009g0220 a0001c0005t0009g0221 a0002c0002t0002g0023 others(102): Show |
105 | 174 | 0.6034 | 7 | c.481 others(24): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 41/46 | chr2 | TogoVar | |||||||
PSME4_chr2_53859069_53975993 | 53879801 | C | CAAAAAAA | intron_variant | MODIFIER | HG01515.hp1 HG02027.hp1 HG02523.hp2 others(9): Show |
a0002 | a0002c0002a0002c0003a0002c0010others(1): Show | a0002c0002t0002a0002c0002t0004a0002c0003t0002others(2): Show | a0002c0002t0002g0045 a0002c0002t0002g0099 a0002c0002t0002g0117 others(9): Show |
12 | 164 | 0.0732 | 7 | c.481 others(26): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 41/46 | chr2 | TogoVar | |||||||
PSME4_chr2_53859069_53975993 | 53933375 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02683.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0001a0001c0006t0003a0001c0006t0005others(2): Show | a0001c0001t0001g0267 a0001c0006t0003g0163 a0001c0006t0003g0167 others(6): Show |
9 | 41 | 0.2195 | 7 | c.958 others(22): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 8/46 | chr2 | TogoVar | |||||||
PSME4_chr2_53859069_53975993 | 53967649 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(51): Show |
a0001a0002a0004others(1): Show | a0001c0005a0001c0006a0001c0007others(6): Show | a0001c0005t0001a0001c0006t0003a0001c0007t0001others(10): Show | a0001c0005t0001g0316 a0001c0005t0001g0317 a0001c0005t0001g0318 others(51): Show |
54 | 135 | 0.4000 | 7 | c.242 others(24): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 1/46 | chr2 | TogoVar | |||||||
PSMG4_chr6_3253947_3273049 | 3260291 | A | ATATATTT | intron_variant | MODIFIER | HG00639.hp1 HG02145.hp1 HG02486.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001 | a0001c0001t0001g0011 a0001c0001t0001g0057 a0001c0001t0001g0058 others(3): Show |
6 | 86 | 0.0698 | 7 | c.174 others(24): Show |
PSMG4 | ENSG00000180822.12 | transcript | ENST00000438998.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PSORS1C1_chr6_31109800_31145092 | 31118837 | C | CTTTTTTT | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01346.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0005 | a0001c0001t0007g0032 a0001c0001t0007g0270 a0001c0001t0007g0271 others(3): Show |
8 | 299 | 0.0268 | 7 | c.-22 others(26): Show |
PSORS1C1 | ENSG00000204540.11 | transcript | ENST00000259881.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PSPC1_chr13_19697500_19787945 | 19764682 | T | TAAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG01099.hp1 HG01168.hp2 others(19): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0137 others(19): Show |
22 | 51 | 0.4314 | 7 | c.675 others(24): Show |
PSPC1 | ENSG00000121390.19 | transcript | ENST00000338910.9 | protein_coding | 2/8 | chr13 | TogoVar | |||||||
PSPH_chr7_56006064_56056444 | 56052788 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01943.hp1 HG01981.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0128 others(13): Show |
16 | 135 | 0.1185 | 7 | c.-19 others(18): Show |
PSPH | ENSG00000146733.14 | transcript | ENST00000275605.8 | protein_coding | 1345 | chr7 | TogoVar | |||||||
PSTPIP2_chr18_45978536_46077260 | 46064457 | A | ATTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0064 others(19): Show |
22 | 127 | 0.1732 | 7 | c.33+ others(22): Show |
PSTPIP2 | ENSG00000152229.18 | transcript | ENST00000409746.5 | protein_coding | 1/14 | chr18 | TogoVar | |||||||
PTAR1_chr9_69704525_69765011 | 69754532 | C | CTTTTTTT | intron_variant | MODIFIER | HG02055.hp2 HG02809.hp2 HG02970.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0055 | a0001c0001t0006g0021 a0001c0001t0006g0022 a0001c0001t0006g0023 others(5): Show |
11 | 130 | 0.0846 | 7 | c.87- others(22): Show |
PTAR1 | ENSG00000188647.13 | transcript | ENST00000340434.5 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
PTAR1_chr9_69704525_69765011 | 69764214 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(222): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 others(155): Show |
225 | 262 | 0.8588 | 7 | c.-42 others(18): Show |
PTAR1 | ENSG00000188647.13 | transcript | ENST00000340434.5 | protein_coding | 4204 | chr9 | TogoVar | |||||||
PTBP3_chr9_112213435_112338619 | 112232005 | A | AAAGAAAG | intron_variant | MODIFIER | HG01243.hp2 HG02056.hp2 NA18971.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0030a0001c0002t0011 | a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0245 others(3): Show |
6 | 255 | 0.0235 | 7 | c.102 others(22): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 9/13 | chr9 | TogoVar | |||||||
PTBP3_chr9_112213435_112338619 | 112302582 | C | CTTTTTTT | intron_variant | MODIFIER | HG02559.hp2 HG03098.hp2 HG04199.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0020 | a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0227 others(3): Show |
6 | 37 | 0.1622 | 7 | c.-51 others(24): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 1/13 | chr9 | TogoVar | |||||||
PTBP3_chr9_112213435_112338619 | 112331126 | C | CACACACA | intron_variant | MODIFIER | NA18977.hp2 NA18991.hp2 NA19003.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 others(2): Show |
5 | 331 | 0.0151 | 7 | c.-52 others(24): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 1/13 | chr9 | TogoVar | |||||||
PTCD3_chr2_86101235_86147157 | 86145065 | C | CAGGCAGT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp1 others(121): Show |
a0001a0005a0007 | a0001c0001a0001c0003a0005c0007others(1): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(27): Show | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0007 others(85): Show |
124 | 396 | 0.3131 | 7 | c.*75 others(18): Show |
PTCD3 | ENSG00000132300.19 | transcript | ENST00000254630.12 | protein_coding | 2909 | chr2 | TogoVar | |||||||
PTCH2_chr1_44816938_44848253 | 44818120 | G | GAAAAAAA | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG02055.hp1 others(27): Show |
a0001a0005a0006others(1): Show | a0001c0005a0001c0008a0001c0017others(3): Show | a0001c0005t0001a0001c0008t0001a0001c0017t0001others(3): Show | a0001c0005t0001g0008 a0001c0005t0001g0012 a0001c0005t0001g0032 others(20): Show |
30 | 356 | 0.0843 | 7 | c.*42 others(18): Show |
PTCH2 | ENSG00000117425.14 | transcript | ENST00000372192.4 | protein_coding | 3817 | chr1 | TogoVar | |||||||
PTCH2_chr1_44816938_44848253 | 44839361 | C | CAAAAAAA | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02071.hp2 others(5): Show |
a0001 | a0001c0002a0001c0012a0001c0020 | a0001c0002t0001a0001c0012t0001a0001c0020t0001 | a0001c0002t0001g0047 a0001c0002t0001g0229 a0001c0002t0001g0231 others(4): Show |
8 | 92 | 0.0870 | 7 | c.265 others(24): Show |
PTCH2 | ENSG00000117425.14 | transcript | ENST00000372192.4 | protein_coding | 2/21 | chr1 | TogoVar | |||||||
PTEN_chr10_87858625_87976930 | 87858636 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01261.hp2 HG01433.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0023others(5): Show | a0001c0001t0008g0119 a0001c0001t0010g0007 a0001c0001t0023g0114 others(5): Show |
9 | 93 | 0.0968 | 7 | c.-58 others(18): Show |
PTEN | ENSG00000171862.15 | transcript | ENST00000371953.8 | protein_coding | 4988 | chr10 | TogoVar | |||||||
PTER_chr10_16432010_16518745 | 16473519 | G | GAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01192.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0200 others(13): Show |
16 | 111 | 0.1441 | 7 | c.-48 others(26): Show |
PTER | ENSG00000165983.15 | transcript | ENST00000535784.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PTGER3_chr1_70965782_71052816 | 70996639 | T | TTTATTTA | intron_variant | MODIFIER | HG00673.hp1 HG02257.hp2 HG02523.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0210 others(4): Show |
7 | 107 | 0.0654 | 7 | c.107 others(28): Show |
PTGER3 | ENSG00000050628.21 | transcript | ENST00000306666.10 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PTGER4_chr5_40674915_40698735 | 40698092 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00597.hp1 others(53): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(14): Show |
56 | 182 | 0.3077 | 7 | c.*57 others(18): Show |
PTGER4 | ENSG00000171522.6 | transcript | ENST00000302472.4 | protein_coding | 4358 | chr5 | TogoVar | |||||||
PTGES3_chr12_56658349_56693284 | 56669007 | A | ATTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0034 others(38): Show |
41 | 145 | 0.2828 | 7 | c.375 others(24): Show |
PTGES3 | ENSG00000110958.16 | transcript | ENST00000262033.11 | protein_coding | 5/7 | chr12 | TogoVar | |||||||
PTGES3_chr12_56658349_56693284 | 56674825 | C | CAAAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG01109.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(11): Show |
14 | 55 | 0.2545 | 7 | c.3-1 others(20): Show |
PTGES3 | ENSG00000110958.16 | transcript | ENST00000262033.11 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
PTGES3_chr12_56658349_56693284 | 56675004 | C | CAAAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG01169.hp2 HG03139.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0061 a0001c0001t0001g0082 a0001c0001t0001g0083 others(6): Show |
9 | 94 | 0.0957 | 7 | c.3-1 others(20): Show |
PTGES3 | ENSG00000110958.16 | transcript | ENST00000262033.11 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
PTGES3_chr12_56658349_56693284 | 56682721 | G | GAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0022 a0001c0001t0001g0058 a0001c0001t0001g0061 others(33): Show |
36 | 117 | 0.3077 | 7 | c.2+5 others(20): Show |
PTGES3 | ENSG00000110958.16 | transcript | ENST00000262033.11 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
PTGES3_chr12_56658349_56693284 | 56683473 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG01123.hp2 HG01168.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0081 a0001c0001t0001g0160 a0001c0001t0001g0161 others(3): Show |
6 | 75 | 0.0800 | 7 | c.2+4 others(20): Show |
PTGES3 | ENSG00000110958.16 | transcript | ENST00000262033.11 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
PTGIR_chr19_46615468_46630089 | 46619581 | G | GAAAGAAA | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01516.hp2 HG01517.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0007g0020 others(3): Show |
15 | 255 | 0.0588 | 7 | c.*16 others(18): Show |
PTGIR | ENSG00000160013.9 | transcript | ENST00000291294.7 | protein_coding | 886 | chr19 | TogoVar | |||||||
PTGIR_chr19_46615468_46630089 | 46619604 | G | GAAAGAAA | downstream_gene_variant | MODIFIER | HG00408.hp2 HG01243.hp1 HG02040.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0002t0001g0002 others(1): Show |
13 | 215 | 0.0605 | 7 | c.*16 others(18): Show |
PTGIR | ENSG00000160013.9 | transcript | ENST00000291294.7 | protein_coding | 863 | chr19 | TogoVar | |||||||
PTGIR_chr19_46615468_46630089 | 46619654 | A | AAAGAAAG | downstream_gene_variant | MODIFIER | HG01891.hp1 NA18906.hp1 NA18952.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002a0001c0003t0004 | a0001c0001t0001g0019 a0001c0003t0002g0006 a0001c0003t0004g0011 |
3 | 401 | 0.0075 | 7 | c.*16 others(18): Show |
PTGIR | ENSG00000160013.9 | transcript | ENST00000291294.7 | protein_coding | 813 | chr19 | TogoVar | |||||||
PTGR1_chr9_111557567_111604647 | 111561138 | G | GAGAGAGA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01106.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0082 a0001c0001t0002g0005 others(10): Show |
14 | 268 | 0.0522 | 7 | c.*19 others(18): Show |
PTGR1 | ENSG00000106853.20 | transcript | ENST00000407693.7 | protein_coding | 1428 | chr9 | TogoVar | |||||||
PTGR1_chr9_111557567_111604647 | 111561148 | G | GAGAGAGA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00735.hp1 others(40): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0002g0005 others(37): Show |
43 | 303 | 0.1419 | 7 | c.*19 others(18): Show |
PTGR1 | ENSG00000106853.20 | transcript | ENST00000407693.7 | protein_coding | 1418 | chr9 | TogoVar | |||||||
PTGR2_chr14_73846831_73890726 | 73876483 | C | CTTTTTTT | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0017 a0001c0001t0003g0085 a0001c0001t0003g0086 others(3): Show |
7 | 205 | 0.0341 | 7 | c.349 others(22): Show |
PTGR2 | ENSG00000140043.12 | transcript | ENST00000555661.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PTGR2_chr14_73846831_73890726 | 73883188 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG02523.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0001 a0001c0001t0002g0032 a0001c0001t0002g0033 others(20): Show |
34 | 54 | 0.6296 | 7 | c.979 others(22): Show |
PTGR2 | ENSG00000140043.12 | transcript | ENST00000555661.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PTGR3_chr18_75190113_75214139 | 75193992 | T | TGTGTGTG | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01071.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0013 | a0001c0002t0002g0001 a0001c0002t0013g0011 |
4 | 426 | 0.0094 | 7 | c.*74 others(18): Show |
PTGR3 | ENSG00000180011.7 | transcript | ENST00000322342.4 | protein_coding | 1120 | chr18 | TogoVar | |||||||
PTGR3_chr18_75190113_75214139 | 75196657 | A | AAAAAAAG | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01169.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0010a0001c0003t0010a0001c0003t0060 | a0001c0001t0010g0063 a0001c0003t0010g0013 a0001c0003t0060g0061 |
6 | 425 | 0.0141 | 7 | c.*47 others(18): Show |
PTGR3 | ENSG00000180011.7 | transcript | ENST00000322342.4 | protein_coding | 2/2 | 4758 | chr18 | TogoVar | ||||||
PTK2_chr8_140652900_141006282 | 140694963 | A | ATTCCCAG | intron_variant | MODIFIER | HG03453.hp1 HG03516.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0094 a0001c0003t0001g0085 a0001c0003t0001g0087 |
3 | 288 | 0.0104 | 7 | c.262 others(26): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 29/35 | chr8 | TogoVar | |||||||
PTK2_chr8_140652900_141006282 | 140714796 | C | CAAAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG01070.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0140 a0001c0001t0002g0011 others(27): Show |
30 | 99 | 0.3030 | 7 | c.226 others(26): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 26/35 | chr8 | TogoVar | |||||||
PTK2_chr8_140652900_141006282 | 140902921 | G | GTTGTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01496.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0045 a0001c0001t0002g0067 |
3 | 287 | 0.0105 | 7 | c.-32 others(26): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 2/35 | chr8 | TogoVar | |||||||
PTK2_chr8_140652900_141006282 | 140927973 | A | ATATATAT | intron_variant | MODIFIER | HG01433.hp1 HG01515.hp2 HG02683.hp1 others(3): Show |
a0001a0005 | a0001c0001a0001c0010a0005c0005 | a0001c0001t0001a0001c0010t0001a0005c0005t0001 | a0001c0001t0001g0109 a0001c0001t0001g0241 a0001c0001t0001g0247 others(3): Show |
6 | 214 | 0.0280 | 7 | c.-12 others(26): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 1/35 | chr8 | TogoVar | |||||||
PTK2_chr8_140652900_141006282 | 140927975 | A | ATATATAT | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01109.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0142 others(6): Show |
9 | 91 | 0.0989 | 7 | c.-12 others(26): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 1/35 | chr8 | TogoVar | |||||||
PTK2_chr8_140652900_141006282 | 141000126 | C | CACACACA | intron_variant | MODIFIER | HG03453.hp1 NA18522.hp1 NA19004.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0087 a0001c0003t0001g0088 a0002c0002t0001g0268 |
3 | 279 | 0.0108 | 7 | c.-12 others(24): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 1/35 | chr8 | TogoVar | |||||||
PTK7_chr6_43071314_43166715 | 43150787 | C | CTTTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00733.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0009t0002others(2): Show | a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0015 others(18): Show |
21 | 158 | 0.1329 | 7 | c.272 others(26): Show |
PTK7 | ENSG00000112655.16 | transcript | ENST00000230419.9 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PTMS_chr12_6761363_6775952 | 6767598 | C | CGGGGGGG | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0044 others(5): Show |
27 | 132 | 0.2045 | 7 | c.45+ others(20): Show |
PTMS | ENSG00000159335.19 | transcript | ENST00000309083.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PTN_chr7_137222341_137348733 | 137239407 | T | TTTATTTA | intron_variant | MODIFIER | HG01099.hp1 HG02055.hp1 HG02622.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0073 a0001c0001t0001g0138 a0001c0001t0001g0205 others(1): Show |
4 | 279 | 0.0143 | 7 | c.452 others(26): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
PTN_chr7_137222341_137348733 | 137283952 | A | ATTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG00735.hp2 HG01169.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0160 a0001c0001t0001g0162 others(8): Show |
11 | 23 | 0.4783 | 7 | c.-1- others(24): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
PTN_chr7_137222341_137348733 | 137324433 | A | AAAAATAT | intron_variant | MODIFIER | HG00408.hp1 NA18747.hp1 NA18941.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0191 a0001c0001t0001g0228 a0001c0001t0001g0280 others(3): Show |
6 | 67 | 0.0896 | 7 | c.-2+ others(24): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
PTN_chr7_137222341_137348733 | 137339568 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00558.hp1 others(99): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(98): Show |
102 | 161 | 0.6335 | 7 | c.-2+ others(22): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
PTPN12_chr7_77532295_77645069 | 77564746 | G | GTTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00738.hp2 HG00741.hp2 others(28): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(1): Show | a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0234 others(28): Show |
31 | 97 | 0.3196 | 7 | c.100 others(24): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PTPN12_chr7_77532295_77645069 | 77582084 | C | CTTTTTTT | intron_variant | MODIFIER | HG02004.hp2 HG02922.hp2 HG03669.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0253 others(6): Show |
9 | 21 | 0.4286 | 7 | c.285 others(22): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |