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input.rna.savi.txt
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chr pos ref alt Effect Effect_Impact Functional_Class Codon_Change Amino_Acid_Change Amino_Acid_length Gene_Name Sgt1_max_frequency totdepth_Blood totdepth_Tumor Blood_freq Tumor_freq refdepth_Blood altdepth_Blood refdepth_Tumor altdepth_Tumor CaseID varPrefix varSurffix SequencingPlatform
chr1 160302244 T C missense_variant MODERATE MISSENSE Att/Gtt I164V 1233 COPA 25 125 77 0 26 125 0 57 20 1105 A A RNA
chr11 126276843 A T missense_variant MODERATE MISSENSE tAt/tTt Y36F 333 ST3GAL4 36 164 63 0 37 164 0 40 23 1105 T T RNA
chr2 172398293 A G missense_variant MODERATE MISSENSE tAt/tGt Y131C 286 CYBRD1 29 56 67 0 30 56 0 47 20 1105 T T RNA
chr2 177195347 C G synonymous_variant LOW SILENT ctC/ctG L193 263 MTX2 32 66 112 0 32 66 0 76 36 1105 T T RNA
chr3 62423807 T C missense_variant MODERATE MISSENSE gAg/gGg E1250G 1353 CADPS 22 76 107 0 22 76 0 83 24 1105 C C RNA
chr4 25916021 C G missense_variant MODERATE MISSENSE cCc/cGc P29R 67 SMIM20 35 935 67 0 36 935 0 43 24 1105 C C RNA
chr4 83602017 A C missense_variant MODERATE MISSENSE Tca/Gca S138A 330 SCD5 40 240 250 0 40 240 0 149 101 1105 G G RNA
chr6 26452191 T A missense_variant MODERATE MISSENSE cTg/cAg L436Q 584 BTN3A3 20 264 205 0 21 264 0 162 43 1105 C G RNA
chr6 26452194 C A missense_variant MODERATE MISSENSE aCt/aAt T437N 584 BTN3A3 20 271 208 0 20 270 1 166 42 1105 A T RNA
chr6 29796548 G C missense_variant MODERATE MISSENSE tGg/tCg W191S 338 HLA-G 37 117 259 0 37 117 0 163 96 1105 T G RNA
chr6 29911916 A G missense_variant MODERATE MISSENSE Atg/Gtg M213V 365 HLA-A 33 46 7102 0 33 46 0 4758 2344 1105 T T RNA
chr6 30458917 C A missense_variant MODERATE MISSENSE cCc/cAc P205H 358 HLA-E 17 93 1037 1 17 92 1 858 179 1105 C C RNA
chr6 31997401 G A synonymous_variant, synonymous_variant, synonymous_variant LOW, LOW, LOW SILENT, SILENT, SILENT ccG/ccA, ccG/ccA, ccG/ccA P1245, P1245, P1245 1744, 1744, 1744 C4A, C4B, C4B_2 29 10 201 0 29 10 0 142 59 1105 C G RNA
chr6 32605266 G A missense_variant MODERATE MISSENSE Gcc/Acc A11T 255 HLA-DQA1 34 82 419 0 35 82 0 272 146 1105 G C RNA
chr6 32610002 C A synonymous_variant LOW SILENT ggC/ggA G195 255 HLA-DQA1 13 223 219 0 14 223 0 189 30 1105 G C RNA
chr8 144994116 G A synonymous_variant LOW SILENT atC/atT I3428 4684 PLEC 35 148 78 0 36 148 0 50 28 1105 C A RNA
chr8 145060112 G A synonymous_variant LOW SILENT caC/caT H71 1025 PARP10 39 115 106 0 40 115 0 64 42 1105 C T RNA
chr1 10209333 A T missense_variant MODERATE MISSENSE Att/Ttt I895F 1302 UBE4B 27 320 79 0 28 318 1 57 22 1129 T T RNA
chr11 11974322 A G synonymous_variant LOW SILENT gcA/gcG A1206 1355 USP47 20 231 100 0 20 231 0 80 20 1129 C G RNA
chr12 2906310 A G missense_variant MODERATE MISSENSE Aag/Gag K38E 459 FKBP4 34 15 194 0 34 15 0 128 66 1129 C A RNA
chr16 75669878 A G missense_variant MODERATE MISSENSE Tat/Cat Y229H 625 KARS 34 246 126 0 35 246 0 81 44 1129 T C RNA
chr19 47995354 C G missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - aGc/aCc, - S195T, - 295, - NAPA, NAPA-AS1 31 88 202 0 31 88 0 139 63 1129 G T RNA
chr3 51426465 A C missense_variant MODERATE MISSENSE aAt/aCt N168T 185 MANF 24 231 170 0 25 231 0 128 42 1129 A T RNA
chr6 30458917 C A missense_variant MODERATE MISSENSE cCc/cAc P205H 358 HLA-E 20 93 239 1 21 92 1 190 49 1129 C C RNA
chr6 32548032 T G missense_variant MODERATE MISSENSE cAg/cCg Q260P 266 HLA-DRB1 38 43 2136 0 38 43 0 1321 813 1129 C G RNA
chr6 32549607 T C missense_variant MODERATE MISSENSE Aag/Gag K127E 266 HLA-DRB1 12 93 240 0 12 82 0 210 30 1129 T A RNA
chr6 32551957 G C missense_variant MODERATE MISSENSE gCg/gGg A100G 266 HLA-DRB1 34 160 915 0 34 109 0 0 314 1129 C C RNA
chr6 32610478 C G synonymous_variant LOW SILENT ggC/ggG G235 255 HLA-DQA1 20 224 165 0 20 223 1 132 33 1129 G A RNA
chr6 32610481 T C synonymous_variant LOW SILENT acT/acC T236 255 HLA-DQA1 18 227 165 0 19 226 1 134 31 1129 C G RNA
chr6 32610487 C G missense_variant MODERATE MISSENSE ttC/ttG F238L 255 HLA-DQA1 18 231 181 0 19 230 1 147 34 1129 T A RNA
chr6 167344588 C T missense_variant MODERATE MISSENSE Gcc/Acc A171T 256 RNASET2 40 183 346 0 40 183 0 207 139 1129 G A RNA
chr8 17847372 C T missense_variant MODERATE MISSENSE aCt/aTt T1472I 2024 PCM1 38 34 59 0 39 34 0 36 23 1129 A T RNA
chr8 144990528 A G synonymous_variant LOW SILENT gcT/gcC A4624 4684 PLEC 29 58 117 0 30 58 0 82 35 1129 C G RNA
chr8 144996408 T G synonymous_variant LOW SILENT gcA/gcC A2664 4684 PLEC 40 86 50 0 40 86 0 30 20 1129 G G RNA
chr8 144997656 C T synonymous_variant LOW SILENT gcG/gcA A2284 4684 PLEC 40 59 52 0 40 59 0 31 21 1129 G G RNA
chr11 107325284 C T synonymous_variant LOW SILENT aaG/aaA K77 894 CWF19L2 28 66 98 0 29 66 0 70 28 1188 T T RNA
chr22 42486723 G A missense_variant MODERATE MISSENSE gCt/gTt A35V 154 NDUFA6 20 450 187 0 20 449 1 149 38 1188 A C RNA
chr3 52740715 C T missense_variant MODERATE MISSENSE tCt/tTt S98F 169 SPCS1 10 236 393 0 11 236 0 351 42 1188 T T RNA
chr6 31975110 C T missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - cCg/cTg, - P265L, - 492, - CYP21A2, CYP21A1P 24 8 113 0 25 8 0 85 28 1188 C G RNA
chr6 32163274 G A synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - gaC/gaT, - D1984, - 2003, - NOTCH4, GPSM3 29 248 95 0 29 247 0 67 28 1188 A T RNA
chr6 32549362 G A synonymous_variant LOW SILENT agC/agT S208 266 HLA-DRB1 28 74 1986 0 29 74 0 1419 567 1188 C C RNA
chr6 32551999 T C missense_variant MODERATE MISSENSE gAc/gGc D86G 266 HLA-DRB1 32 272 515 0 32 214 1 129 167 1188 G C RNA
chr6 32552000 C T missense_variant MODERATE MISSENSE Gac/Aac D86N 266 HLA-DRB1 31 286 535 0 31 285 1 368 167 1188 T A RNA
chr6 32552026 C T missense_variant MODERATE MISSENSE cGg/cAg R77Q 266 HLA-DRB1 9 313 666 0 9 312 1 604 62 1188 C G RNA
chr6 32609106 T C synonymous_variant LOW SILENT tgT/tgC C34 255 HLA-DQA1 38 56 231 0 39 56 0 142 89 1188 G G RNA
chr6 32610008 C T synonymous_variant LOW SILENT gaC/gaT D197 255 HLA-DQA1 15 231 268 0 15 231 0 227 41 1188 A C RNA
chr6 32610403 C A synonymous_variant LOW SILENT gcC/gcA A210 255 HLA-DQA1 21 196 607 0 21 196 0 479 128 1188 C C RNA
chr1 224586653 C T synonymous_variant LOW SILENT ctG/ctA L501 661 WDR26 26 319 152 0 27 319 0 111 41 1283 C A RNA
chr2 73800042 A G missense_variant MODERATE MISSENSE Aaa/Gaa K3679E 4167 ALMS1 38 168 57 0 39 168 0 35 22 1283 T A RNA
chr22 20940050 C G missense_variant MODERATE MISSENSE Ctc/Gtc L723V 788 MED15 30 135 66 0 30 135 0 46 20 1283 G T RNA
chr22 42486723 G A missense_variant MODERATE MISSENSE gCt/gTt A35V 154 NDUFA6 39 450 275 0 39 449 1 167 108 1283 A C RNA
chr4 94750759 C T missense_variant MODERATE MISSENSE Cca/Tca P228S 354 ATOH1 14 323 346 0 15 323 0 295 51 1283 T C RNA
chr6 30652872 G A synonymous_variant LOW SILENT tcC/tcT S308 613 PPP1R18 30 549 80 0 30 549 0 56 24 1283 C G RNA
chr6 32548034 A G synonymous_variant LOW SILENT ctT/ctC L259 266 HLA-DRB1 32 41 206 0 33 41 0 139 67 1283 G A RNA
chr6 32946034 T C synonymous_variant LOW SILENT gaT/gaC D570 836 BRD2 30 378 246 0 30 378 0 172 74 1283 A G RNA
chr8 48875375 G C missense_variant MODERATE MISSENSE Ggc/Cgc G185R 863 MCM4 34 194 87 0 34 194 0 57 30 1283 T G RNA
chr1 26608873 T C missense_variant MODERATE MISSENSE Agt/Ggt S494G 520 UBXN11 19 77 112 0 20 75 0 90 22 1285 C G RNA
chr11 62556822 T C synonymous_variant LOW SILENT Ttg/Ctg L115 219 TMEM179B 21 437 119 0 22 437 0 93 26 1285 C T RNA
chr2 27670404 G A missense_variant MODERATE MISSENSE gCa/gTa A1546V 1749 IFT172 37 64 183 0 37 64 0 115 68 1285 T C RNA
chr6 30867030 A G missense_variant MODERATE MISSENSE cAg/cGg Q906R 919 DDR1 35 115 1610 0 35 115 0 1039 571 1285 C G RNA
chr6 32551960 T C missense_variant MODERATE MISSENSE cAg/cGg Q99R 266 HLA-DRB1 31 184 1118 0 31 184 0 768 350 1285 C G RNA
chr8 145057868 A G missense_variant MODERATE MISSENSE gTg/gCg V630A 1025 PARP10 34 196 111 0 34 196 0 73 38 1285 C C RNA
chr8 145059425 T C missense_variant MODERATE MISSENSE Atc/Gtc I249V 1025 PARP10 35 243 74 0 35 243 0 48 26 1285 A G RNA
chrX 48547748 C T missense_variant MODERATE MISSENSE Cct/Tct P460S 502 WAS 32 61 160 0 32 61 0 108 52 1285 A C RNA
chrX 76854897 G A missense_variant MODERATE MISSENSE tCt/tTt S1980F 2492 ATRX 11 230 180 0 11 230 0 159 20 1285 A A RNA
chr15 75631361 A C missense_variant MODERATE MISSENSE Agt/Cgt S73R 199 COMMD4 19 26 118 0 19 26 0 95 23 1346 G G RNA
chr16 106591 G T stop_gained HIGH NONSENSE Gaa/Taa E107* 132 SNRNP25 33 148 222 0 33 148 0 148 74 1346 G A RNA
chr2 54886380 G A synonymous_variant LOW SILENT gaG/gaA E2111 2364 SPTBN1 33 86 673 0 34 86 0 446 227 1346 A G RNA
chr4 99363169 G C missense_variant MODERATE MISSENSE ttG/ttC L576F 608 RAP1GDS1 37 147 75 0 37 147 0 47 28 1346 T G RNA
chr6 29911916 A G missense_variant MODERATE MISSENSE Atg/Gtg M213V 365 HLA-A 14 46 2709 0 14 46 0 2319 390 1346 T T RNA
chr6 30458917 C A missense_variant MODERATE MISSENSE cCc/cAc P205H 358 HLA-E 13 93 339 1 14 92 1 293 46 1346 C C RNA
chr6 30458942 C T synonymous_variant LOW SILENT caC/caT H213 358 HLA-E 13 98 389 1 14 97 1 336 53 1346 A C RNA
chr6 30865279 C T synonymous_variant LOW SILENT ggC/ggT G713 919 DDR1 35 230 302 0 36 230 0 194 108 1346 G G RNA
chr6 32551957 G C missense_variant MODERATE MISSENSE gCg/gGg A100G 266 HLA-DRB1 7 160 336 0 7 109 0 1 25 1346 C C RNA
chr6 32632659 C G missense_variant MODERATE MISSENSE Gtc/Ctc V99L 269 HLA-DQB1 12 250 208 0 13 162 0 0 27 1346 A T RNA
chrX 153070999 G A synonymous_variant LOW SILENT aaC/aaT N204 769 PDZD4 27 99 374 0 27 99 0 272 102 1346 T T RNA
chr1 8416293 G A synonymous_variant LOW SILENT ccC/ccT P1451 1566 RERE 32 65 67 0 33 65 0 45 22 1370 C G RNA
chr1 10209333 A T missense_variant MODERATE MISSENSE Att/Ttt I895F 1302 UBE4B 33 320 114 0 33 318 1 76 38 1370 T T RNA
chr1 19433106 G A missense_variant MODERATE MISSENSE tCc/tTc S4117F 5183 UBR4 28 451 99 0 28 449 0 71 28 1370 G A RNA
chr1 155239285 T C synonymous_variant LOW SILENT tcA/tcG S131 499 CLK2 23 89 151 0 23 89 0 116 35 1370 A G RNA
chr11 883247 G C missense_variant MODERATE MISSENSE cCg/cGg P312R 418 CHID1 32 183 68 0 32 183 0 46 22 1370 C G RNA
chr11 1780298 G A synonymous_variant LOW SILENT aaC/aaT N124 412 CTSD 7 241 399 0 8 241 0 369 30 1370 T T RNA
chr12 48080606 G A missense_variant MODERATE MISSENSE Ctt/Ttt L317F 665 RPAP3 27 211 167 0 28 211 0 121 46 1370 A G RNA
chr12 56360899 G C missense_variant MODERATE MISSENSE cGc/cCc R36P 298 CDK2 28 136 304 0 29 136 0 215 87 1370 C C RNA
chr17 902099 C G missense_variant MODERATE MISSENSE Cgt/Ggt R107G 194 TIMM22 30 94 70 0 30 94 0 49 21 1370 C G RNA
chr19 33902641 G T missense_variant MODERATE MISSENSE gCc/gAc A252D 493 PEPD 21 177 241 0 21 177 0 190 51 1370 G C RNA
chr20 17601007 G C synonymous_variant LOW SILENT gtC/gtG V739 977 RRBP1 32 224 938 0 33 224 0 632 305 1370 T A RNA
chr3 186502452 A C missense_variant MODERATE MISSENSE Att/Ctt I59L 407 EIF4A2 23 307 438 0 24 307 0 335 103 1370 T T RNA
chr6 30458917 C A missense_variant MODERATE MISSENSE cCc/cAc P205H 358 HLA-E 28 93 246 1 29 92 1 175 71 1370 C C RNA
chr6 30458936 T C synonymous_variant LOW SILENT acT/acC T211 358 HLA-E 25 96 302 1 26 95 1 224 78 1370 C C RNA
chr6 30458942 C T synonymous_variant LOW SILENT caC/caT H213 358 HLA-E 22 98 311 1 23 97 1 240 71 1370 A C RNA
chr6 32548550 G A synonymous_variant LOW SILENT Ctg/Ttg L246 266 HLA-DRB1 39 80 402 0 39 80 0 245 157 1370 A C RNA
chr7 56079548 T G synonymous_variant LOW SILENT ggA/ggC G195 225 PSPH 26 157 89 0 27 157 0 65 24 1370 A C RNA
chr8 144899206 C T synonymous_variant LOW SILENT gaG/gaA E418 559 PUF60 36 245 120 0 37 245 0 76 44 1370 T T RNA
chrX 153279602 T C missense_variant MODERATE MISSENSE cAc/cGc H477R 712 IRAK1 17 78 131 0 18 78 0 108 23 1370 G G RNA
chr1 151958588 G A missense_variant MODERATE MISSENSE cCt/cTt P40L 97 S100A10 7 389 777 0 7 389 0 719 58 1393 A G RNA
chr19 4494182 C T missense_variant MODERATE MISSENSE Cgc/Tgc R312C 671 HDGFRP2 37 56 61 0 38 56 0 38 23 1393 C G RNA
chr4 862414 A T missense_variant MODERATE MISSENSE Tcc/Acc S770T 1311 GAK 39 110 119 0 39 110 0 71 47 1393 G C RNA
chr6 29796548 G C missense_variant MODERATE MISSENSE tGg/tCg W191S 338 HLA-G 29 117 105 0 30 117 0 74 31 1393 T G RNA
chr6 29911916 A G missense_variant MODERATE MISSENSE Atg/Gtg M213V 365 HLA-A 30 46 3103 0 30 46 0 2167 936 1393 T T RNA
chr6 30458936 T C synonymous_variant LOW SILENT acT/acC T211 358 HLA-E 9 96 361 1 10 95 1 326 35 1393 C C RNA
chr6 32549362 G A synonymous_variant LOW SILENT agC/agT S208 266 HLA-DRB1 40 74 828 0 40 74 0 494 334 1393 C C RNA
chr6 32549540 C T missense_variant MODERATE MISSENSE aGt/aAt S149N 266 HLA-DRB1 10 119 678 0 10 119 0 610 68 1393 A T RNA
chr6 32549581 G A synonymous_variant LOW SILENT acC/acT T135 266 HLA-DRB1 33 102 842 0 33 102 0 563 279 1393 G G RNA
chr6 32549607 T C missense_variant MODERATE MISSENSE Aag/Gag K127E 266 HLA-DRB1 25 93 863 0 25 82 0 644 219 1393 T A RNA
chr6 32551928 G A missense_variant MODERATE MISSENSE Cac/Tac H110Y 266 HLA-DRB1 13 131 828 0 13 131 0 718 110 1393 T T RNA
chr6 32609106 T C synonymous_variant LOW SILENT tgT/tgC C34 255 HLA-DQA1 34 56 112 0 35 56 0 73 39 1393 G G RNA
chr6 32609130 C T synonymous_variant LOW SILENT taC/taT Y42 255 HLA-DQA1 28 62 106 0 28 62 0 76 30 1393 A G RNA
chr6 32609142 C G synonymous_variant LOW SILENT ggC/ggG G46 255 HLA-DQA1 20 63 98 0 20 63 0 78 20 1393 G C RNA
chr7 4825216 C A synonymous_variant LOW SILENT Cga/Aga R345 807 AP5Z1 28 60 78 0 28 60 0 56 22 1393 C G RNA
chr7 75616577 G A synonymous_variant LOW SILENT ctC/ctT L315 343 TMEM120A 29 216 123 0 29 216 0 87 36 1393 G A RNA
chr9 127623791 T G missense_variant MODERATE MISSENSE gAg/gCg E16A 123 RPL35 30 145 3022 0 30 145 0 2100 918 1393 C C RNA
chr11 64088232 G C missense_variant MODERATE MISSENSE Gag/Cag E136Q 214 PRDX5 33 175 467 0 34 175 0 310 157 1450 C A RNA
chr12 58112045 G A synonymous_variant LOW SILENT gaG/gaA E417 667 OS9 12 115 237 0 12 114 0 164 29 1450 A G RNA
chr19 10781810 G A missense_variant MODERATE MISSENSE gGt/gAt G55D 898 ILF3 37 223 82 0 38 222 1 51 31 1450 G T RNA
chr6 29634003 G C missense_variant MODERATE MISSENSE Gtt/Ctt V171L 252 MOG 39 212 56 0 39 212 0 34 22 1450 T T RNA
chr6 30652872 G A synonymous_variant LOW SILENT tcC/tcT S308 613 PPP1R18 38 549 86 0 38 549 0 53 33 1450 C G RNA
chr6 32549357 G A missense_variant MODERATE MISSENSE aCa/aTa T210I 266 HLA-DRB1 31 74 145 0 32 74 0 98 46 1450 T T RNA
chr6 32549362 G A synonymous_variant LOW SILENT agC/agT S208 266 HLA-DRB1 28 74 178 0 29 74 0 127 51 1450 C C RNA
chr6 32549392 C T synonymous_variant LOW SILENT gaG/gaA E198 266 HLA-DRB1 25 73 170 0 25 73 0 127 43 1450 C T RNA
chr6 32551928 G A missense_variant MODERATE MISSENSE Cac/Tac H110Y 266 HLA-DRB1 36 131 66 0 36 131 0 42 24 1450 T T RNA
chr8 145006336 G C missense_variant MODERATE MISSENSE Ctg/Gtg L819V 4684 PLEC 37 67 69 0 38 67 0 43 26 1450 A C RNA
chr1 10209333 A T missense_variant MODERATE MISSENSE Att/Ttt I895F 1302 UBE4B 26 320 90 0 27 318 1 66 24 1460 T T RNA
chr1 12030843 G A synonymous_variant LOW SILENT acG/acA T624 727 PLOD1 22 193 195 0 22 191 0 152 43 1460 C G RNA
chr1 32127020 G A missense_variant MODERATE MISSENSE Cct/Tct P1256S 1604 COL16A1 28 121 266 0 29 121 0 189 77 1460 G T RNA
chr1 32208549 C T missense_variant MODERATE MISSENSE gGg/gAg G381E 1584 BAI2 38 20 102 0 38 20 0 63 39 1460 C C RNA
chr1 32381577 C T synonymous_variant LOW SILENT aaG/aaA K36 167 PTP4A2 30 41 446 0 31 41 0 309 137 1460 A T RNA
chr1 37975089 C T synonymous_variant LOW SILENT cgG/cgA R87 201 MEAF6 25 133 140 0 26 133 0 104 36 1460 G C RNA
chr1 45981407 C T missense_variant MODERATE MISSENSE aGt/aAt S60N 199 PRDX1 35 117 273 0 35 117 0 177 96 1460 A T RNA
chr1 68659795 G A synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - atC/atT, - I72, - 543, - WLS, GNG12-AS1 12 204 168 0 12 204 0 146 21 1460 G A RNA
chr1 87329179 C T missense_variant MODERATE MISSENSE aGt/aAt S159N 165 SEP15 37 179 238 0 38 179 0 148 90 1460 A T RNA
chr1 144864143 G A synonymous_variant, intron_variant, intron_variant LOW, MODIFIER, MODIFIER SILENT, -, - aaC/aaT, -, - N1984, -, - 2362, 4963, 1110 PDE4DIP, NBPF20, NBPF9 26 15 115 0 27 15 0 84 31 1460 C T RNA
chr1 150240506 G A synonymous_variant LOW SILENT tcC/tcT S45 265 APH1A 36 174 271 0 36 172 0 173 98 1460 G G RNA
chr1 150598244 G A missense_variant MODERATE MISSENSE gCc/gTc A91V 137 ENSA 11 40 736 0 12 40 0 651 85 1460 G C RNA
chr1 151139470 C T synonymous_variant, synonymous_variant LOW, LOW SILENT, SILENT gcC/gcT, gcC/gcT A26, A61 195, 230 TNFAIP8L2-SCNM1, SCNM1 28 148 200 0 28 148 0 143 57 1460 C C RNA
chr1 154569683 C T synonymous_variant LOW SILENT aaG/aaA K665 1226 ADAR 38 269 101 0 39 268 0 62 39 1460 T T RNA
chr1 155300311 G A synonymous_variant LOW SILENT cgG/cgA R886 902 RUSC1 32 98 90 0 32 98 0 61 29 1460 G G RNA
chr1 155732013 C T missense_variant MODERATE MISSENSE Gac/Aac D1627N 2241 GON4L 38 255 65 0 38 255 0 40 25 1460 T C RNA
chr1 156287223 G A missense_variant MODERATE MISSENSE aCt/aTt T292I 545 CCT3 11 107 436 0 11 107 0 387 49 1460 A T RNA
chr1 156767079 G A synonymous_variant LOW SILENT gaG/gaA E445 491 PRCC 24 94 466 0 24 94 0 354 112 1460 A C RNA
chr1 167889790 G A missense_variant MODERATE MISSENSE gCt/gTt A77V 127 MPC2 24 168 200 0 24 168 0 151 49 1460 A C RNA
chr1 205689728 C T missense_variant MODERATE MISSENSE Gcg/Acg A95T 243 NUCKS1 14 255 412 0 15 255 0 351 61 1460 G C RNA
chr1 245018739 C T missense_variant MODERATE MISSENSE gGg/gAg G780E 825 HNRNPU 6 78 1917 0 7 78 0 1792 125 1460 C C RNA
chr10 71158561 G T synonymous_variant LOW SILENT ggG/ggT G866 921 HK1 11 182 240 0 12 182 0 212 28 1460 G A RNA
chr10 98287219 C T missense_variant MODERATE MISSENSE Gca/Aca A526T 589 TM9SF3 39 156 53 1 40 155 1 32 21 1460 G A RNA
chr11 792156 G A synonymous_variant LOW SILENT atC/atT I268 323 SLC25A22 17 134 118 0 18 133 0 97 21 1460 G A RNA
chr11 2973024 C T missense_variant MODERATE MISSENSE Gaa/Aaa E351K 375 NAP1L4 25 148 258 0 25 148 0 193 65 1460 T T RNA
chr11 6631006 G A missense_variant MODERATE MISSENSE aGg/aAg R303K 452 ILK 33 226 132 0 33 225 1 88 44 1460 A G RNA
chr11 63764016 G A synonymous_variant LOW SILENT aaG/aaA K78 271 OTUB1 28 212 183 0 29 212 0 130 53 1460 A T RNA
chr11 65292718 C T missense_variant MODERATE MISSENSE Cac/Tac H32Y 808 SCYL1 19 33 146 0 20 33 0 117 29 1460 G A RNA
chr11 65292724 G A missense_variant MODERATE MISSENSE Ggc/Agc G34S 808 SCYL1 18 33 133 0 19 33 0 108 25 1460 C G RNA
chr11 65634479 G A synonymous_variant LOW SILENT gaC/gaT D414 443 EFEMP2 35 219 154 0 35 219 0 100 54 1460 G T RNA
chr11 118518695 G A missense_variant MODERATE MISSENSE aGg/aAg R1186K 1377 PHLDB1 38 38 255 0 38 38 0 158 97 1460 A G RNA
chr11 118888179 C T missense_variant MODERATE MISSENSE tGt/tAt C59Y 125 RPS25 22 240 2090 0 22 238 0 1623 466 1460 A A RNA
chr11 118919527 C T synonymous_variant LOW SILENT aaG/aaA K688 999 HYOU1 14 279 149 0 14 279 0 128 21 1460 G T RNA
chr11 129992235 C T missense_variant MODERATE MISSENSE aCa/aTa T250I 763 APLP2 22 72 1025 0 22 72 0 799 226 1460 A A RNA
chr12 7050707 G A missense_variant MODERATE MISSENSE Gac/Aac D1177N 1190 ATN1 29 113 185 0 30 113 0 130 55 1460 G A RNA
chr12 56501379 G A synonymous_variant LOW SILENT ctG/ctA L156 394 PA2G4 9 191 313 0 9 191 0 284 29 1460 T G RNA
chr12 57574518 G A missense_variant MODERATE MISSENSE Ggc/Agc G1819S 4544 LRP1 14 115 241 0 15 115 0 206 35 1460 G G RNA
chr12 57883062 G T missense_variant MODERATE MISSENSE ttG/ttT L71F 900 MARS 17 99 164 0 17 99 0 136 28 1460 T T RNA
chr12 95879660 G A missense_variant MODERATE MISSENSE Gtt/Att V111I 478 METAP2 18 143 118 0 19 143 0 96 22 1460 A T RNA
chr12 112230416 G A missense_variant MODERATE MISSENSE Gaa/Aaa E305K 517 ALDH2 24 82 480 0 25 82 0 361 119 1460 G A RNA
chr12 121132952 G A missense_variant MODERATE MISSENSE Gat/Aat D216N 292 MLEC 25 99 128 0 26 99 0 95 33 1460 G A RNA
chr14 64894081 G A missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - gGg/gAg, - G385E, - 935, - MTHFD1, MIR548AZ 34 203 63 0 35 203 0 41 22 1460 G G RNA
chr14 78174528 G A missense_variant MODERATE MISSENSE aGa/aAa R25K 109 SLIRP 27 243 143 0 28 243 0 103 40 1460 A A RNA
chr14 102508032 G A missense_variant MODERATE MISSENSE atG/atA M4021I 4646 DYNC1H1 24 177 171 0 25 177 0 129 42 1460 T G RNA
chr15 69076803 C T synonymous_variant LOW SILENT aaG/aaA K153 249 ANP32A 31 411 82 0 32 409 1 56 26 1460 C T RNA
chr15 72502077 C T missense_variant MODERATE MISSENSE Gtg/Atg V242M 605 PKM 12 72 1229 0 13 72 0 1070 159 1460 A C RNA
chr16 129673 C T missense_variant MODERATE MISSENSE Ccc/Tcc P97S 298 MPG 24 159 86 0 24 159 0 65 21 1460 C C RNA
chr16 2813992 G A missense_variant MODERATE MISSENSE Ggg/Agg G1155R 2752 SRRM2 24 209 183 0 24 209 0 139 44 1460 G G RNA
chr16 31045832 G A synonymous_variant LOW SILENT ggG/ggA G94 297 STX4 17 53 178 0 18 53 0 146 32 1460 G A RNA
chr16 47001553 C T missense_variant MODERATE MISSENSE gGc/gAc G150D 412 DNAJA2 15 176 260 0 16 176 0 219 41 1460 G C RNA
chr16 70714919 G A missense_variant MODERATE MISSENSE Cct/Tct P27S 747 MTSS1L 14 127 315 0 15 127 0 269 46 1460 G G RNA
chr17 4700843 C T missense_variant MODERATE MISSENSE aCc/aTc T94I 239 PSMB6 8 223 350 0 8 223 0 322 28 1460 A C RNA
chr17 17077365 C T synonymous_variant LOW SILENT aaC/aaT N855 1038 MPRIP 25 97 239 0 25 97 0 179 60 1460 A C RNA
chr17 27296871 C T missense_variant MODERATE MISSENSE Ggc/Agc G320S 994 SEZ6 36 130 84 0 37 130 0 53 31 1460 C C RNA
chr17 39977964 G A synonymous_variant LOW SILENT gaG/gaA E486 582 FKBP10 16 74 384 0 17 74 0 320 64 1460 A G RNA
chr17 40272800 G A synonymous_variant LOW SILENT ccC/ccT P129 837 KAT2A 13 98 153 0 14 98 0 132 21 1460 T G RNA
chr17 46133828 C T synonymous_variant LOW SILENT cgC/cgT R197 772 NFE2L1 24 122 249 0 25 122 0 187 62 1460 G C RNA
chr17 48462497 C T missense_variant MODERATE MISSENSE Gaa/Aaa E220K 307 LRRC59 13 222 352 0 14 222 0 304 48 1460 T C RNA
chr17 62499575 C T missense_variant MODERATE MISSENSE Gga/Aga G208R 614 DDX5 37 242 429 0 37 240 0 270 159 1460 C C RNA
chr17 80888474 G A missense_variant MODERATE MISSENSE aGc/aAc S1023N 1192 TBCD 25 274 83 0 25 273 0 62 21 1460 A C RNA
chr19 580695 G A synonymous_variant LOW SILENT ggG/ggA G235 385 BSG 4 288 1322 0 5 288 0 1260 61 1460 G G RNA
chr19 804632 G A missense_variant MODERATE MISSENSE gGg/gAg G179E 557 PTBP1 22 233 346 0 23 233 0 268 78 1460 G G RNA
chr19 1271387 C T synonymous_variant LOW SILENT tcC/tcT S90 297 CIRBP 24 228 493 0 25 228 0 371 122 1460 C C RNA
chr19 4097313 C T missense_variant MODERATE MISSENSE atG/atA M316I 400 MAP2K2 24 160 446 0 24 160 0 338 108 1460 C A RNA
chr19 4268609 C T synonymous_variant LOW SILENT aaC/aaT N296 323 CCDC94 21 111 114 0 22 111 0 89 25 1460 A C RNA
chr19 6416823 C T missense_variant MODERATE MISSENSE gGc/gAc G418D 711 KHSRP 9 157 475 0 9 157 0 430 45 1460 G C RNA
chr19 6420464 C T synonymous_variant LOW SILENT gaG/gaA E148 711 KHSRP 27 95 421 0 27 95 0 306 115 1460 A T RNA
chr19 6680191 C T synonymous_variant LOW SILENT aaG/aaA K1478 1663 C3 10 102 607 0 10 102 0 544 63 1460 C T RNA
chr19 7997736 G A missense_variant MODERATE MISSENSE aCc/aTc T284I 452 TIMM44 24 263 114 0 25 263 0 86 28 1460 G T RNA
chr19 13059066 C T missense_variant MODERATE MISSENSE Ccg/Tcg P104S 363 RAD23A 13 371 217 0 14 370 0 187 30 1460 C C RNA
chr19 13247168 C T missense_variant MODERATE MISSENSE Ccc/Tcc P357S 527 NACC1 15 243 128 0 16 243 0 108 20 1460 C C RNA
chr19 14627798 C T missense_variant MODERATE MISSENSE aGc/aAc S91N 340 DNAJB1 27 341 316 0 28 340 0 228 88 1460 G T RNA
chr19 15298751 C T missense_variant MODERATE MISSENSE tGc/tAc C516Y 2321 NOTCH3 23 24 90 0 23 24 0 69 21 1460 G A RNA
chr19 15511154 C T missense_variant MODERATE MISSENSE Gag/Aag E334K 646 AKAP8L 23 418 164 0 24 418 0 125 39 1460 T C RNA
chr19 16770225 C T synonymous_variant LOW SILENT gaG/gaA E34 103 SMIM7 24 225 242 0 25 225 0 182 60 1460 A T RNA
chr19 18433847 G A 5_prime_UTR_premature_start_codon_gain_variant LOW - - - 139 LSM4 30 15 461 0 30 15 0 322 139 1460 C G RNA
chr19 34857731 A T missense_variant MODERATE MISSENSE aAt/aTt N125I 597 GPI 29 125 740 0 29 125 0 523 217 1460 A T RNA
chr19 36616640 G A missense_variant MODERATE MISSENSE Gtg/Atg V231M 244 TBCB 8 546 453 0 8 546 0 416 37 1460 G T RNA
chr19 49120036 C T missense_variant MODERATE MISSENSE Gtt/Att V82I 188 RPL18 6 103 1510 0 6 103 0 1418 91 1460 A C RNA
chr19 49611211 G A synonymous_variant LOW SILENT agG/agA R275 437 SNRNP70 9 57 388 0 9 57 0 352 36 1460 G C RNA
chr19 50062207 C T missense_variant MODERATE MISSENSE Gcc/Acc A69T 301 NOSIP 15 223 180 0 16 223 0 152 28 1460 G C RNA
chr19 50304280 G A synonymous_variant LOW SILENT gaG/gaA E506 977 AP2A1 29 237 188 0 29 237 0 133 55 1460 A T RNA
chr19 51013676 G A missense_variant MODERATE MISSENSE Ccg/Tcg P5S 188 JOSD2 13 77 151 0 14 77 0 130 21 1460 G G RNA
chr19 56206224 C T missense_variant MODERATE MISSENSE cCc/cTc P552L 662 EPN1 12 60 440 0 12 60 0 387 53 1460 C C RNA
chr19 59061163 G A missense_variant MODERATE MISSENSE aGc/aAc S681N 835 TRIM28 4 240 787 0 5 239 0 751 36 1460 A C RNA
chr2 39108622 G A missense_variant MODERATE MISSENSE Gta/Ata V14I 79 MORN2 34 188 85 0 34 188 0 56 29 1460 A T RNA
chr2 74605368 G A missense_variant MODERATE MISSENSE cCc/cTc P13L 1278 DCTN1 17 84 173 0 17 82 0 143 30 1460 G G RNA
chr2 131103245 G A missense_variant MODERATE MISSENSE Gtc/Atc V138I 291 IMP4 30 173 181 0 30 173 0 126 55 1460 G T RNA
chr2 198273285 C T missense_variant MODERATE MISSENSE Gga/Aga G309R 1304 SF3B1 34 33 130 0 35 33 0 85 45 1460 C A RNA
chr2 240929547 G A missense_variant MODERATE MISSENSE Ccg/Tcg P315S 355 NDUFA10 22 219 179 0 23 219 0 138 41 1460 G G RNA
chr2 242181972 G A missense_variant MODERATE MISSENSE cCc/cTc P691L 1268 HDLBP 34 119 243 0 34 119 0 160 83 1460 G G RNA
chr2 242186172 C T missense_variant MODERATE MISSENSE Gac/Aac D649N 1268 HDLBP 19 57 220 0 19 57 0 178 42 1460 T T RNA
chr20 1108129 G A missense_variant MODERATE MISSENSE Gaa/Aaa E115K 271 PSMF1 10 242 314 0 11 242 0 281 33 1460 A A RNA
chr20 2636377 C A synonymous_variant LOW SILENT gcC/gcA A298 594 NOP56 28 103 139 0 28 103 0 100 39 1460 C C RNA
chr20 3765528 C T missense_variant MODERATE MISSENSE Gat/Aat D535N 599 CENPB 19 410 711 0 20 410 0 569 142 1460 T C RNA
chr20 21314470 G A synonymous_variant LOW SILENT gaG/gaA E354 950 XRN2 29 393 77 0 30 393 0 54 23 1460 A A RNA
chr20 32878710 G A missense_variant MODERATE MISSENSE tCc/tTc S198F 432 AHCY 20 178 183 0 20 178 0 146 37 1460 G A RNA
chr20 39797807 G A missense_variant MODERATE MISSENSE Gag/Aag E858K 1291 PLCG1 5 617 417 0 6 617 0 394 23 1460 G A RNA
chr20 42089556 G A synonymous_variant LOW SILENT agG/agA R296 344 SRSF6 7 256 499 0 7 256 0 464 35 1460 G A RNA
chr20 57566005 G A missense_variant MODERATE MISSENSE Gct/Act A295T 599 NELFCD 16 173 122 0 16 171 0 102 20 1460 A C RNA
chr20 62694716 G A synonymous_variant LOW SILENT aaG/aaA K17 299 TCEA2 21 117 238 0 21 116 0 186 51 1460 A A RNA
chr20 62700737 G A missense_variant MODERATE MISSENSE aGg/aAg R118K 299 TCEA2 8 183 399 0 9 183 0 365 34 1460 A G RNA
chr21 44479062 C T missense_variant MODERATE MISSENSE Gtt/Att V414I 551 CBS 20 88 237 0 21 88 0 188 49 1460 A A RNA
chr22 28290566 C T missense_variant MODERATE MISSENSE Gat/Aat D147N 273 PITPNB 17 111 140 0 17 111 0 116 24 1460 T T RNA
chr22 38202053 G A missense_variant MODERATE MISSENSE Gtc/Atc V168I 194 H1F0 13 347 191 0 13 347 0 166 25 1460 G T RNA
chr3 10353778 G A synonymous_variant LOW SILENT aaC/aaT N153 368 SEC13 29 101 362 0 30 101 0 255 107 1460 A T RNA
chr3 47913569 G A missense_variant MODERATE MISSENSE Cct/Tct P782S 1152 MAP4 23 94 156 0 24 94 0 119 37 1460 G A RNA
chr3 48641806 C T synonymous_variant LOW SILENT gaG/gaA E162 480 UQCRC1 10 153 437 0 11 153 0 390 47 1460 T T RNA
chr3 49052640 C T synonymous_variant LOW SILENT gaC/gaT D1125 1151 WDR6 20 292 100 0 20 292 0 80 20 1460 A T RNA
chr3 49548000 G A synonymous_variant LOW SILENT ctG/ctA L11 895 DAG1 34 252 66 0 35 252 0 43 23 1460 T C RNA
chr3 98236013 G A missense_variant MODERATE MISSENSE Ctt/Ttt L165F 276 CLDND1 20 159 143 0 20 159 0 114 29 1460 A G RNA
chr3 156262178 G A missense_variant MODERATE MISSENSE tCc/tTc S137F 185 SSR3 12 56 308 0 13 56 0 269 39 1460 G A RNA
chr5 32390488 C T missense_variant MODERATE MISSENSE Gat/Aat D679N 1074 ZFR 18 148 389 1 19 147 1 317 72 1460 T C RNA
chr5 36629585 G A missense_variant MODERATE MISSENSE aGa/aAa R72K 542 SLC1A3 13 85 476 0 14 85 0 411 65 1460 A A RNA
chr5 52398020 C T missense_variant MODERATE MISSENSE Gat/Aat D45N 188 MOCS2 19 80 136 0 20 80 0 109 27 1460 T T RNA
chr5 138699597 G A missense_variant MODERATE MISSENSE Gaa/Aaa E42K 127 PAIP2 16 76 167 0 17 76 0 139 28 1460 A A RNA
chr5 150027953 C T missense_variant MODERATE MISSENSE gCc/gTc A283V 929 SYNPO 15 182 173 0 15 182 0 147 26 1460 G C RNA
chr5 176894046 C T synonymous_variant LOW SILENT cgG/cgA R193 651 DBN1 36 171 255 0 36 171 0 162 93 1460 T C RNA
chr5 179137008 G A synonymous_variant LOW SILENT agG/agA R221 592 CANX 17 132 346 0 18 132 0 285 61 1460 G C RNA
chr6 29693233 C T missense_variant MODERATE MISSENSE cCc/cTc P299L 442 HLA-F 24 295 198 0 24 295 0 150 48 1460 C C RNA
chr6 30164395 C T synonymous_variant LOW SILENT agG/agA R221 539 TRIM26 34 220 58 0 34 220 0 38 20 1460 C C RNA
chr6 30164467 C A missense_variant MODERATE MISSENSE caG/caT Q197H 539 TRIM26 36 296 69 0 36 296 0 44 25 1460 A T RNA
chr6 30458936 T C synonymous_variant LOW SILENT acT/acC T211 358 HLA-E 9 96 898 1 9 95 1 816 82 1460 C C RNA
chr6 30571793 G A synonymous_variant LOW SILENT aaC/aaT N500 940 PPP1R10 36 433 168 0 37 433 0 106 62 1460 T T RNA
chr6 30691185 G A missense_variant MODERATE MISSENSE Gtc/Atc V136I 464 TUBB 6 211 1197 0 6 211 0 1116 77 1460 T T RNA
chr6 30865279 C T synonymous_variant LOW SILENT ggC/ggT G713 919 DDR1 38 230 542 0 38 230 0 336 206 1460 G G RNA
chr6 31601316 G A missense_variant MODERATE MISSENSE Ggg/Agg G1494R 2157 PRRC2A 36 190 162 0 36 190 0 103 59 1460 A G RNA
chr6 32549352 G C missense_variant MODERATE MISSENSE Cct/Gct P212A 266 HLA-DRB1 12 77 922 0 12 77 0 807 114 1460 G G RNA
chr6 32549607 T C missense_variant MODERATE MISSENSE Aag/Gag K127E 266 HLA-DRB1 8 93 418 0 8 82 0 319 34 1460 T A RNA
chr6 32551928 G A missense_variant MODERATE MISSENSE Cac/Tac H110Y 266 HLA-DRB1 8 131 632 0 8 131 0 580 52 1460 T T RNA
chr6 32552072 T G missense_variant MODERATE MISSENSE Aac/Cac N62H 266 HLA-DRB1 37 304 680 0 38 304 0 425 255 1460 T A RNA
chr6 32552112 A G synonymous_variant LOW SILENT aaT/aaC N48 266 HLA-DRB1 37 225 297 0 37 225 0 186 111 1460 C T RNA
chr6 32609130 C T synonymous_variant LOW SILENT taC/taT Y42 255 HLA-DQA1 37 62 81 0 37 62 0 50 30 1460 A G RNA
chr6 32609142 C G synonymous_variant LOW SILENT ggC/ggG G46 255 HLA-DQA1 28 63 75 0 28 63 0 54 21 1460 G C RNA
chr6 32946061 C T synonymous_variant LOW SILENT ccC/ccT P579 836 BRD2 8 300 345 0 8 300 0 315 29 1460 C C RNA
chr6 52143579 A C missense_variant MODERATE MISSENSE gaT/gaG D325E 853 MCM3 30 117 96 0 30 117 0 67 29 1460 T T RNA
chr6 52143598 G A missense_variant MODERATE MISSENSE cCc/cTc P319L 853 MCM3 29 126 112 0 29 126 0 79 33 1460 G G RNA
chr6 138727193 C T synonymous_variant LOW SILENT tcC/tcT S108 205 HEBP2 26 204 84 0 26 204 0 62 22 1460 C C RNA
chr6 138750903 C T missense_variant MODERATE MISSENSE Gta/Ata V1348I 1610 NHSL1 17 143 158 0 17 143 0 131 27 1460 A C RNA
chr6 151672332 G A missense_variant MODERATE MISSENSE Gta/Ata V936I 1782 AKAP12 15 299 141 0 16 299 0 119 22 1460 G T RNA
chr7 4823039 C T synonymous_variant LOW SILENT ctC/ctT L153 807 AP5Z1 40 40 60 0 40 40 0 36 24 1460 T C RNA
chr7 50673023 G A synonymous_variant LOW SILENT gcC/gcT A451 594 GRB10 22 83 90 0 22 83 0 70 20 1460 G G RNA
chr7 55224307 C T missense_variant MODERATE MISSENSE aCc/aTc T363I 1210 EGFR 18 203 1658 0 19 203 0 1345 313 1460 A C RNA
chr7 65444845 C T synonymous_variant LOW SILENT gaG/gaA E150 651 GUSB 14 63 141 0 15 63 0 120 21 1460 C T RNA
chr7 99695475 C T missense_variant MODERATE MISSENSE Gag/Aag E323K 719 MCM7 18 272 332 0 19 272 0 269 63 1460 T C RNA
chr7 121698877 G A synonymous_variant LOW SILENT agG/agA R2184 2315 PTPRZ1 6 143 630 0 6 142 0 592 38 1460 G C RNA
chr7 127343333 G A missense_variant MODERATE MISSENSE Gag/Aag E266K 910 SND1 21 118 157 0 22 118 0 123 34 1460 G A RNA
chr7 127731900 C T synonymous_variant LOW SILENT taC/taT Y878 910 SND1 19 100 650 0 20 100 0 523 127 1460 A C RNA
chr7 127954859 C T missense_variant MODERATE MISSENSE aGa/aAa R668K 759 RBM28 27 152 74 1 27 151 1 54 20 1460 T T RNA
chr7 134133166 C T missense_variant MODERATE MISSENSE aGc/aAc S211N 316 AKR1B1 17 34 223 0 17 34 0 185 38 1460 G T RNA
chr7 150774267 G A missense_variant MODERATE MISSENSE Ccc/Tcc P450S 549 FASTK 6 192 514 0 6 192 0 481 33 1460 G G RNA
chr8 61471417 G A missense_variant MODERATE MISSENSE gGt/gAt G18D 212 RAB2A 14 94 300 0 14 94 0 258 42 1460 G T RNA
chr8 143694574 C T missense_variant MODERATE MISSENSE atG/atA M353I 396 ARC 8 189 394 0 9 188 0 360 34 1460 C A RNA
chr9 33917075 C T missense_variant MODERATE MISSENSE aCc/aTc T186I 238 UBE2R2 6 252 310 0 6 251 0 290 20 1460 A C RNA
chr9 35698883 G A synonymous_variant LOW SILENT gcC/gcT A2349 2541 TLN1 23 246 156 0 24 245 1 119 37 1460 T G RNA
chr9 86591948 C T missense_variant MODERATE MISSENSE Gga/Aga G59R 464 HNRNPK 5 272 1704 0 5 272 0 1614 90 1460 C A RNA
chr9 90345963 G A missense_variant MODERATE MISSENSE Gcc/Acc A315T 333 CTSL 23 153 493 0 24 153 0 376 117 1460 G C RNA
chr9 131348115 G A synonymous_variant LOW SILENT cgG/cgA R883 2477 SPTAN1 29 155 354 0 30 155 0 249 105 1460 G C RNA
chrX 47058717 G A missense_variant MODERATE MISSENSE Gtc/Atc V96I 1058 UBA1 38 484 191 0 39 484 0 117 74 1460 G T RNA
chrX 118603669 G A missense_variant MODERATE MISSENSE Ggc/Agc G53S 298 SLC25A5 26 35 272 0 26 35 0 200 72 1460 A G RNA
chr11 57472563 G A missense_variant MODERATE MISSENSE cCt/cTt P119L 194 MED19 10 207 343 0 11 205 0 304 37 1475 A G RNA
chr11 62571018 C T missense_variant MODERATE MISSENSE cGt/cAt R81H 619 NXF1 38 85 99 0 38 85 0 61 38 1475 A G RNA
chr11 77820492 A C missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - aTa/aGa, - I345R, - 526, - ALG8, RNU6-83P 33 194 59 0 34 194 0 39 20 1475 T T RNA
chr13 113964074 C T synonymous_variant LOW SILENT ctC/ctT L100 417 LAMP1 28 278 419 0 28 278 0 299 119 1475 T A RNA
chr19 39847509 C T 5_prime_UTR_premature_start_codon_gain_variant LOW - - - 694 SAMD4B 27 28 94 0 28 28 0 67 26 1475 C G RNA
chr3 184018071 A G missense_variant MODERATE MISSENSE Aag/Gag K66E 908 PSMD2 35 31 180 0 35 31 0 117 63 1475 G A RNA
chr6 29911906 C A synonymous_variant LOW SILENT ccC/ccA P209 365 HLA-A 8 48 1486 0 8 48 0 1367 119 1475 C A RNA
chr6 29911916 A G missense_variant MODERATE MISSENSE Atg/Gtg M213V 365 HLA-A 8 46 1411 0 9 46 0 1287 124 1475 T T RNA
chr6 32549540 C T missense_variant MODERATE MISSENSE aGt/aAt S149N 266 HLA-DRB1 9 119 594 0 9 119 0 539 55 1475 A T RNA
chr6 32549581 G A synonymous_variant LOW SILENT acC/acT T135 266 HLA-DRB1 33 102 579 0 34 102 0 382 195 1475 G G RNA
chr6 32549607 T C missense_variant MODERATE MISSENSE Aag/Gag K127E 266 HLA-DRB1 30 93 443 0 31 82 0 276 137 1475 T A RNA
chr6 32605266 G A missense_variant MODERATE MISSENSE Gcc/Acc A11T 255 HLA-DQA1 34 82 135 0 35 82 0 88 47 1475 G C RNA
chr6 32609106 T C synonymous_variant LOW SILENT tgT/tgC C34 255 HLA-DQA1 34 56 129 0 35 56 0 84 45 1475 G G RNA
chr6 32609130 C T synonymous_variant LOW SILENT taC/taT Y42 255 HLA-DQA1 34 62 114 0 34 62 0 75 39 1475 A G RNA
chr6 32609142 C G synonymous_variant LOW SILENT ggC/ggG G46 255 HLA-DQA1 23 63 98 0 23 63 0 75 23 1475 G C RNA
chr6 32609150 C G missense_variant MODERATE MISSENSE aCc/aGc T49S 255 HLA-DQA1 21 75 92 0 22 75 0 72 20 1475 A C RNA
chr6 33048460 T C missense_variant MODERATE MISSENSE Ttc/Ctc F38L 258 HLA-DPB1 36 225 324 0 36 225 0 206 118 1475 T T RNA
chr1 32829559 G A missense_variant MODERATE MISSENSE tGc/tAc C170Y 268 TSSK3 33 191 83 0 34 191 0 55 28 1490 T C RNA
chr1 144854608 T G missense_variant, intron_variant, intron_variant MODERATE, MODIFIER, MODIFIER MISSENSE, -, - Aaa/Caa, -, - K2288Q, -, - 2362, 4963, 1110 PDE4DIP, NBPF20, NBPF9 37 7 89 0 37 7 0 56 33 1490 T G RNA
chr1 144864143 G A synonymous_variant, intron_variant, intron_variant LOW, MODIFIER, MODIFIER SILENT, -, - aaC/aaT, -, - N1984, -, - 2362, 4963, 1110 PDE4DIP, NBPF20, NBPF9 40 15 94 0 40 15 0 56 38 1490 C T RNA
chr1 155448601 G C missense_variant MODERATE MISSENSE Cct/Gct P1354A 2964 ASH1L 38 237 96 0 39 237 0 59 37 1490 G G RNA
chr1 160302244 T C missense_variant MODERATE MISSENSE Att/Gtt I164V 1233 COPA 27 125 404 0 28 125 0 289 113 1490 A A RNA
chr1 162257217 G A synonymous_variant LOW SILENT aaG/aaA K87 506 NOS1AP 18 90 132 0 19 90 0 107 25 1490 A A RNA
chr1 200378585 G A synonymous_variant LOW SILENT tcC/tcT S83 895 ZNF281 38 82 57 0 39 82 0 35 22 1490 C G RNA
chr1 231557155 C T synonymous_variant LOW SILENT gcG/gcA A160 426 EGLN1 14 181 221 0 15 181 0 188 33 1490 T G RNA
chr10 51827934 G A missense_variant MODERATE MISSENSE Gtg/Atg V25M 1341 FAM21A 37 12 132 0 38 12 0 82 50 1490 G T RNA
chr10 97918320 A G synonymous_variant LOW SILENT aaA/aaG K747 1482 ZNF518A 39 189 84 0 39 189 0 51 33 1490 A T RNA
chr10 105206935 C T missense_variant MODERATE MISSENSE Gtg/Atg V316M 323 CALHM2 27 116 107 0 27 116 0 78 29 1490 A G RNA
chr12 49663415 T G synonymous_variant LOW SILENT ggT/ggG G57 449 TUBA1C 18 135 121 0 18 135 0 93 22 1490 G G RNA
chr14 21896122 T C missense_variant MODERATE MISSENSE Agg/Ggg R503G 2581 CHD8 26 260 106 0 26 260 0 78 28 1490 C G RNA
chr15 41195142 G T missense_variant MODERATE MISSENSE gGc/gTc G842V 973 VPS18 37 208 88 0 38 207 0 55 33 1490 G C RNA
chr16 4920862 A C missense_variant MODERATE MISSENSE aAa/aCa K483T 1134 UBN1 40 61 55 0 40 61 0 33 22 1490 A A RNA
chr16 11870732 T C missense_variant MODERATE MISSENSE Ata/Gta I114V 971 ZC3H7A 39 141 148 0 39 141 0 90 58 1490 A A RNA
chr19 14593693 T C synonymous_variant LOW SILENT ccA/ccG P32 333 GIPC1 12 43 274 0 12 43 0 241 33 1490 C G RNA
chr19 42880623 G A missense_variant MODERATE MISSENSE gGa/gAa G2745E 2845 MEGF8 37 80 182 0 38 80 0 113 69 1490 G A RNA
chr20 1291513 A G missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - cTg/cCg, - L252P, - 292, - SDCBP2, FKBP1A-SDCBP2 38 143 54 0 39 143 0 33 21 1490 C G RNA
chr21 34721419 G A missense_variant MODERATE MISSENSE Gga/Aga G271R 557 IFNAR1 40 68 277 0 40 68 0 165 112 1490 T G RNA
chr21 34923319 A G synonymous_variant LOW SILENT ctA/ctG L594 2426 SON 14 147 345 0 14 147 0 295 50 1490 T G RNA
chr3 51429631 C T synonymous_variant LOW SILENT tcC/tcT S267 890 RBM15B 28 84 107 0 28 84 0 77 30 1490 C C RNA
chr3 57570152 T G missense_variant MODERATE MISSENSE aAa/aCa K36T 180 ARF4 7 205 592 0 8 205 0 545 47 1490 T T RNA
chr3 62423807 T C missense_variant MODERATE MISSENSE gAg/gGg E1250G 1353 CADPS 32 76 238 0 32 76 0 161 77 1490 C C RNA
chr3 107435631 C T synonymous_variant LOW SILENT Cta/Tta L114 941 BBX 31 103 203 0 32 103 0 139 64 1490 A T RNA
chr3 160804162 T A missense_variant MODERATE MISSENSE aaA/aaT K127N 331 B3GALNT1 35 296 121 0 36 296 0 78 43 1490 T T RNA
chr4 7765492 C T stop_retained_variant, intragenic_variant LOW, MODIFIER SILENT, - taG/taA, - *815, - 814, - AFAP1, AFAP1-AS1 30 59 131 0 31 59 0 91 40 1490 C T RNA
chr4 190862189 T A missense_variant MODERATE MISSENSE Tct/Act S9T 258 FRG1 10 126 300 0 11 126 0 268 32 1490 G C RNA
chr4 190862204 C T missense_variant MODERATE MISSENSE Ctc/Ttc L14F 258 FRG1 11 112 313 1 12 111 1 276 37 1490 G T RNA
chr4 190864371 G A missense_variant MODERATE MISSENSE aGc/aAc S26N 258 FRG1 18 77 427 0 19 77 0 346 81 1490 A C RNA
chr4 190864378 T G missense_variant MODERATE MISSENSE gaT/gaG D28E 258 FRG1 8 90 432 0 8 90 0 396 36 1490 A A RNA
chr4 190864384 A G synonymous_variant LOW SILENT aaA/aaG K30 258 FRG1 11 89 455 0 11 89 0 400 51 1490 A A RNA
chr6 31938412 G T missense_variant MODERATE MISSENSE caC/caA H261Q 396 DXO 38 392 111 0 39 392 0 68 43 1490 T T RNA
chr6 32122472 C A missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - gCg/gAg, - A40E, - 308, - PPT2, PPT2-EGFL8 37 240 201 0 38 240 0 125 76 1490 G G RNA
chr6 32549587 T G synonymous_variant LOW SILENT tcA/tcC S133 266 HLA-DRB1 27 100 5795 0 27 100 0 4225 1568 1490 T G RNA
chr6 32551928 G A missense_variant MODERATE MISSENSE Cac/Tac H110Y 266 HLA-DRB1 19 131 4940 0 19 131 0 3982 957 1490 T T RNA
chr6 32551957 G C missense_variant MODERATE MISSENSE gCg/gGg A100G 266 HLA-DRB1 19 160 4204 0 20 109 0 3358 839 1490 C C RNA
chr6 32551960 T C missense_variant MODERATE MISSENSE cAg/cGg Q99R 266 HLA-DRB1 20 184 4153 0 20 184 0 3313 839 1490 C G RNA
chr6 32610478 C G synonymous_variant LOW SILENT ggC/ggG G235 255 HLA-DQA1 29 224 1567 0 29 223 1 1109 458 1490 G A RNA
chr6 110056424 A C missense_variant MODERATE MISSENSE aAg/aCg K190T 907 FIG4 33 294 136 0 34 294 0 90 46 1490 A G RNA
chr7 107849908 G T missense_variant MODERATE MISSENSE aaC/aaA N344K 1304 NRCAM 7 278 500 0 8 0 0 0 38 1490 C T RNA
chr8 103841636 T C missense_variant MODERATE MISSENSE Agc/Ggc S367G 448 AZIN1 8 332 599 0 9 332 0 546 53 1490 C T RNA
chr9 33264382 T C synonymous_variant LOW SILENT gaA/gaG E97 345 BAG1 5 803 381 0 5 803 0 361 20 1490 C T RNA
chr9 33264392 A C missense_variant MODERATE MISSENSE cTg/cGg L94R 345 BAG1 6 798 410 0 7 797 0 348 27 1490 C G RNA
chr9 33264393 G A synonymous_variant LOW SILENT Ctg/Ttg L94 345 BAG1 5 801 407 0 6 800 1 351 23 1490 A G RNA
chr9 33264398 A G missense_variant MODERATE MISSENSE tTg/tCg L92S 345 BAG1 8 771 413 0 8 771 0 345 34 1490 C A RNA
chr9 33264399 A C missense_variant MODERATE MISSENSE Ttg/Gtg L92V 345 BAG1 12 749 381 0 12 748 1 300 47 1490 A C RNA
chr9 33264400 C T synonymous_variant LOW SILENT gaG/gaA E91 345 BAG1 6 766 440 0 7 766 0 377 30 1490 A T RNA
chr9 35546912 C T missense_variant MODERATE MISSENSE Cac/Tac H132Y 1516 RUSC2 29 183 101 0 30 183 0 71 30 1490 C A RNA
chr9 124522262 C T synonymous_variant LOW SILENT gaC/gaT D210 1132 DAB2IP 32 343 416 0 32 343 0 282 134 1490 A G RNA
chr9 137623352 C T missense_variant MODERATE MISSENSE cCt/cTt P392L 1838 COL5A1 27 368 81 0 27 368 0 59 22 1490 C T RNA
chr1 120285559 G A missense_variant MODERATE MISSENSE Ggg/Agg G447R 533 PHGDH 9 183 662 0 10 183 0 599 63 1585 G G RNA
chr1 148592956 C T synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - gaC/gaT, - D552, - 670, - NBPF15, NBPF25P 21 11 100 0 21 11 0 79 21 1585 A G RNA
chr1 225707047 G C missense_variant MODERATE MISSENSE Cag/Gag Q219E 591 ENAH 13 933 346 0 13 931 0 284 45 1585 T C RNA
chr10 111872552 G A synonymous_variant LOW SILENT ttG/ttA L71 706 ADD3 22 219 385 0 22 219 0 299 86 1585 T G RNA
chr12 12871182 C A missense_variant MODERATE MISSENSE Ccg/Acg P137T 198 CDKN1B 25 185 1157 0 26 185 0 860 297 1585 T C RNA
chr12 31242420 G A synonymous_variant LOW SILENT agG/agA R292 970 DDX11 14 64 282 0 15 64 0 241 41 1585 G C RNA
chr12 31242421 C G missense_variant MODERATE MISSENSE Cac/Gac H293D 970 DDX11 15 64 267 0 15 64 0 226 41 1585 G A RNA
chr13 46090371 A G missense_variant MODERATE MISSENSE Att/Gtt I635V 828 COG3 38 101 83 0 39 101 0 51 32 1585 A T RNA
chr14 60620730 C T missense_variant MODERATE MISSENSE Gac/Aac D114N 339 DHRS7 28 168 405 0 28 168 0 291 114 1585 T G RNA
chr15 40462304 C G missense_variant MODERATE MISSENSE cCt/cGt P74R 1050 BUB1B 36 114 91 0 36 114 0 58 33 1585 C T RNA
chr15 66206204 G A missense_variant MODERATE MISSENSE Ctc/Ttc L861F 1044 MEGF11 39 173 276 0 40 173 0 166 110 1585 A G RNA
chr15 76165774 A G missense_variant MODERATE MISSENSE atA/atG I151M 375 UBE2Q2 39 28 91 0 40 28 0 55 36 1585 T G RNA
chr16 48577046 T C synonymous_variant LOW SILENT tcA/tcG S820 896 N4BP1 26 89 92 0 26 89 0 68 24 1585 T G RNA
chr16 57787075 C T synonymous_variant LOW SILENT gaC/gaT D314 655 KATNB1 34 299 322 0 34 299 0 208 110 1585 A C RNA
chr19 11577609 C T missense_variant MODERATE MISSENSE Ggg/Agg G15R 367 ELAVL3 5 469 396 0 5 469 0 373 20 1585 C C RNA
chr19 14593693 T C synonymous_variant LOW SILENT ccA/ccG P32 333 GIPC1 9 43 478 0 10 43 0 431 47 1585 C G RNA
chr2 165997297 G C missense_variant MODERATE MISSENSE gCc/gGc A628G 2000 SCN3A 12 254 220 0 12 254 0 193 27 1585 G C RNA
chr2 190660526 G C missense_variant MODERATE MISSENSE cGa/cCa R55P 932 PMS1 29 203 101 0 30 203 0 71 30 1585 C A RNA
chr2 242757628 C T missense_variant MODERATE MISSENSE Ctc/Ttc L250F 497 NEU4 33 115 259 0 34 115 0 171 88 1585 C T RNA
chr4 110394292 T C missense_variant MODERATE MISSENSE gTt/gCt V368A 1298 SEC24B 37 140 54 0 37 140 0 34 20 1585 G T RNA
chr4 190862084 C G 5_prime_UTR_premature_start_codon_gain_variant LOW - - - 258 FRG1 36 135 107 0 36 135 0 68 39 1585 T T RNA
chr6 26056072 G C synonymous_variant LOW SILENT ccC/ccG P195 213 HIST1H1C 37 227 136 0 38 227 0 85 51 1585 T G RNA
chr6 30615603 A G missense_variant MODERATE MISSENSE Agg/Ggg R199G 496 C6orf136 31 31 63 0 32 31 0 43 20 1585 T G RNA
chr6 31122377 C G missense_variant MODERATE MISSENSE Gag/Cag E233Q 871 CCHCR1 37 690 135 0 38 690 0 84 51 1585 T A RNA
chr6 32551899 T C synonymous_variant LOW SILENT acA/acG T119 266 HLA-DRB1 16 121 251 0 16 121 0 210 41 1585 C G RNA
chr6 102372572 A G synonymous_variant LOW SILENT ggA/ggG G615 908 GRIK2 7 182 449 0 8 182 0 414 34 1585 G G RNA
chr6 102372589 A G missense_variant MODERATE MISSENSE cAg/cGg Q621R 908 GRIK2 11 184 450 0 12 184 0 398 52 1585 C G RNA
chr7 151845434 A G synonymous_variant LOW SILENT taT/taC Y4526 4911 KMT2C 32 406 186 0 32 406 0 126 60 1585 C T RNA
chr7 151874832 C T missense_variant MODERATE MISSENSE aGg/aAg R2569K 4911 KMT2C 32 245 74 0 32 245 0 50 24 1585 C T RNA
chr9 35079223 C T missense_variant MODERATE MISSENSE Ggt/Agt G34S 622 FANCG 32 281 170 0 33 281 0 114 56 1585 C G RNA
chr9 115171217 C T missense_variant MODERATE MISSENSE gCc/gTc A104V 418 HSDL2 16 153 185 0 16 153 0 155 30 1585 G C RNA
chrX 153629251 T C missense_variant MODERATE MISSENSE Tcc/Ccc S180P 216 RPL10 7 111 951 0 7 111 0 878 69 1585 G C RNA
chr1 65306960 G A missense_variant MODERATE MISSENSE Cgc/Tgc R873C 1154 JAK1 8 157 513 0 9 157 0 469 44 1602 C C RNA
chr1 94956766 C T missense_variant MODERATE MISSENSE cCa/cTa P450L 659 ABCD3 39 153 448 0 40 153 0 270 178 1602 C A RNA
chr1 117945049 G A missense_variant MODERATE MISSENSE Gaa/Aaa E182K 641 MAN1A2 8 142 281 0 9 142 0 256 24 1602 G A RNA
chr1 144854608 T G missense_variant, intron_variant, intron_variant MODERATE, MODIFIER, MODIFIER MISSENSE, -, - Aaa/Caa, -, - K2288Q, -, - 2362, 4963, 1110 PDE4DIP, NBPF20, NBPF9 31 7 172 0 32 7 0 117 55 1602 T G RNA
chr1 144864143 G A synonymous_variant, intron_variant, intron_variant LOW, MODIFIER, MODIFIER SILENT, -, - aaC/aaT, -, - N1984, -, - 2362, 4963, 1110 PDE4DIP, NBPF20, NBPF9 32 15 140 0 33 15 0 94 46 1602 C T RNA
chr1 144879485 G C missense_variant, intron_variant, intron_variant MODERATE, MODIFIER, MODIFIER MISSENSE, -, - aCa/aGa, -, - T1322R, -, - 2362, 4963, 1110 PDE4DIP, NBPF20, NBPF9 34 114 125 0 34 114 0 82 43 1602 T T RNA
chr1 144880832 T C missense_variant, intron_variant, intron_variant MODERATE, MODIFIER, MODIFIER MISSENSE, -, - Aag/Gag, -, - K1266E, -, - 2362, 4963, 1110 PDE4DIP, NBPF20, NBPF9 31 81 136 0 32 81 0 93 43 1602 T G RNA
chr1 144882778 C T missense_variant, intron_variant, intron_variant MODERATE, MODIFIER, MODIFIER MISSENSE, -, - Gag/Aag, -, - E1081K, -, - 2362, 4963, 1110 PDE4DIP, NBPF20, NBPF9 32 1691 131 0 32 1690 1 89 42 1602 T G RNA
chr1 148592956 C T synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - gaC/gaT, - D552, - 670, - NBPF15, NBPF25P 34 11 82 0 34 11 0 53 28 1602 A G RNA
chr1 160302244 T C missense_variant MODERATE MISSENSE Att/Gtt I164V 1233 COPA 11 125 219 0 11 125 0 194 25 1602 A A RNA
chr1 167944188 G T missense_variant MODERATE MISSENSE Gtt/Ttt V125F 951 DCAF6 36 118 57 0 37 118 0 36 21 1602 C T RNA
chr11 65487796 T C missense_variant MODERATE MISSENSE Aag/Gag K89E 164 RNASEH2C 4 678 515 0 5 678 0 491 24 1602 T C RNA
chr11 118463537 A G synonymous_variant LOW SILENT ctA/ctG L366 511 ARCN1 35 171 261 0 35 171 0 169 92 1602 T C RNA
chr11 129991640 G T missense_variant MODERATE MISSENSE gaG/gaT E216D 763 APLP2 12 155 1037 0 12 155 0 907 126 1602 A G RNA
chr12 7045867 T G missense_variant MODERATE MISSENSE caT/caG H479Q 1190 ATN1 6 304 474 0 7 298 1 437 33 1602 A C RNA
chr12 41312557 C T missense_variant MODERATE MISSENSE Cct/Tct P71S 1018 CNTN1 24 163 845 0 24 163 0 641 204 1602 C C RNA
chr12 57548010 C T synonymous_variant LOW SILENT atC/atT I287 4544 LRP1 40 221 99 0 40 220 0 59 40 1602 T G RNA
chr14 20928434 C T synonymous_variant LOW SILENT ggG/ggA G126 284 TMEM55B 8 284 234 0 9 284 0 214 20 1602 T C RNA
chr14 74947424 C A missense_variant MODERATE MISSENSE tGg/tTg W141L 151 NPC2 6 148 1212 0 7 147 0 1132 79 1602 C A RNA
chr14 77796661 G A missense_variant MODERATE MISSENSE atG/atA M161I 216 GSTZ1 38 108 104 0 38 108 0 64 40 1602 T G RNA
chr16 70698933 C T missense_variant MODERATE MISSENSE Gtg/Atg V399M 747 MTSS1L 8 76 724 0 9 76 0 658 65 1602 A T RNA
chr17 26960652 G A missense_variant MODERATE MISSENSE cCc/cTc P1127L 2235 KIAA0100 9 201 237 0 9 201 0 214 22 1602 G G RNA
chr17 62567952 T C missense_variant MODERATE MISSENSE gAt/gGt D327G 748 SMURF2 38 170 76 0 38 170 0 47 29 1602 A C RNA
chr2 37208847 T C missense_variant MODERATE MISSENSE gAt/gGt D2001G 2071 HEATR5B 37 164 99 0 37 164 0 62 37 1602 A C RNA
chr21 34923319 A G synonymous_variant LOW SILENT ctA/ctG L594 2426 SON 11 147 195 0 12 147 0 172 23 1602 T G RNA
chr22 39626229 C T missense_variant MODERATE MISSENSE aGa/aAa R154K 241 PDGFB 37 124 77 0 38 124 0 47 29 1602 T T RNA
chr3 58141791 A G missense_variant MODERATE MISSENSE Atg/Gtg M2324V 2633 FLNB 19 133 184 0 20 133 0 147 36 1602 T T RNA
chr3 62423807 T C missense_variant MODERATE MISSENSE gAg/gGg E1250G 1353 CADPS 34 76 240 0 34 76 0 158 82 1602 C C RNA
chr3 183861267 G A missense_variant MODERATE MISSENSE Gta/Ata V595I 721 EIF2B5 31 148 191 0 31 148 0 131 60 1602 G T RNA
chr4 158257879 A G synonymous_variant LOW SILENT caA/caG Q608 883 GRIA2 11 56 506 0 12 56 0 446 59 1602 A G RNA
chr6 29576393 A G synonymous_variant LOW SILENT ttT/ttC F659 961 GABBR1 26 143 168 0 27 143 0 121 45 1602 G A RNA
chr6 29911260 A C missense_variant MODERATE MISSENSE Acg/Ccg T187P 365 HLA-A 35 75 3606 0 35 75 0 2338 1268 1602 C C RNA
chr6 29911261 C G missense_variant MODERATE MISSENSE aCg/aGg T187R 365 HLA-A 32 78 3617 0 33 78 0 2335 1190 1602 A G RNA
chr6 29911272 T G missense_variant MODERATE MISSENSE Tgg/Ggg W191G 365 HLA-A 33 91 3610 0 33 87 0 2412 1195 1602 G G RNA
chr6 29911906 C A synonymous_variant LOW SILENT ccC/ccA P209 365 HLA-A 11 48 4251 0 11 48 0 3759 486 1602 C A RNA
chr6 30458936 T C synonymous_variant LOW SILENT acT/acC T211 358 HLA-E 14 96 975 1 14 95 1 837 137 1602 C C RNA
chr6 30647005 C G synonymous_variant LOW SILENT ctG/ctC L591 613 PPP1R18 34 68 166 0 35 68 0 108 58 1602 G A RNA
chr6 30865204 A C synonymous_variant LOW SILENT ccA/ccC P688 919 DDR1 35 223 1750 0 36 223 0 1127 623 1602 C A RNA
chr7 107221241 G A synonymous_variant LOW SILENT gtG/gtA V8 348 BCAP29 34 180 208 0 35 180 0 136 72 1602 T G RNA
chr7 107849908 G T missense_variant MODERATE MISSENSE aaC/aaA N344K 1304 NRCAM 10 278 765 0 10 0 0 0 80 1602 C T RNA
chr8 100887766 G A missense_variant MODERATE MISSENSE Gtg/Atg V3981M 4022 VPS13B 6 198 897 0 7 198 0 837 60 1602 G T RNA
chr8 101271291 C T synonymous_variant LOW SILENT ggG/ggA G670 838 RNF19A 6 455 302 0 7 455 0 282 20 1602 T C RNA
chr8 145001784 A G synonymous_variant LOW SILENT Ttg/Ctg L1321 4684 PLEC 33 64 224 0 34 64 0 148 76 1602 A C RNA
chrX 47070264 C T synonymous_variant LOW SILENT ttC/ttT F741 1058 UBA1 25 126 934 0 26 126 0 694 239 1602 T T RNA
chr1 985054 A G synonymous_variant LOW SILENT cgA/cgG R1541 2045 AGRN 10 135 440 0 11 135 0 392 48 1622 G G RNA
chr1 144955288 A G missense_variant, intron_variant, intron_variant MODERATE, MODIFIER, MODIFIER MISSENSE, -, - aTt/aCt, -, - I49T, -, - 2362, 4963, 1110 PDE4DIP, NBPF20, NBPF9 29 209 219 0 29 209 0 154 64 1622 A T RNA
chr1 148592956 C T synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - gaC/gaT, - D552, - 670, - NBPF15, NBPF25P 34 11 85 0 34 11 0 55 29 1622 A G RNA
chr1 160302244 T C missense_variant MODERATE MISSENSE Att/Gtt I164V 1233 COPA 14 125 213 0 15 125 0 182 31 1622 A A RNA
chr10 93784571 T C missense_variant MODERATE MISSENSE gTt/gCt V1641A 1849 BTAF1 33 77 65 0 34 77 0 43 22 1622 G T RNA
chr11 811616 G A missense_variant MODERATE MISSENSE gGa/gAa G48E 115 RPLP2 4 145 12589 0 5 145 0 11950 591 1622 G A RNA
chr11 111631612 G T missense_variant MODERATE MISSENSE aCa/aAa T157K 667 PPP2R1B 37 617 78 0 37 617 0 49 29 1622 T T RNA
chr12 106641443 C G missense_variant MODERATE MISSENSE Gcg/Ccg A63P 602 CKAP4 17 10 159 0 18 10 0 131 28 1622 G C RNA
chr12 106641444 C G missense_variant MODERATE MISSENSE caG/caC Q62H 602 CKAP4 16 11 161 0 16 11 0 135 26 1622 C T RNA
chr14 20928434 C T synonymous_variant LOW SILENT ggG/ggA G126 284 TMEM55B 7 284 282 0 7 284 0 262 20 1622 T C RNA
chr16 2213963 G C synonymous_variant LOW SILENT ggG/ggC G14 670 TRAF7 5 312 357 0 6 312 0 337 20 1622 G G RNA
chr17 4575327 G A missense_variant MODERATE MISSENSE Cct/Tct P1037S 1180 PELP1 10 169 515 0 10 169 0 144 54 1622 G C RNA
chr17 4575329 A T missense_variant MODERATE MISSENSE cTg/cAg L1036Q 1180 PELP1 10 175 506 1 10 174 1 135 53 1622 C G RNA
chr17 4575330 G C missense_variant MODERATE MISSENSE Ctg/Gtg L1036V 1180 PELP1 10 172 514 0 11 172 0 143 54 1622 A A RNA
chr17 4575331 A G synonymous_variant LOW SILENT gcT/gcC A1035 1180 PELP1 17 174 507 0 17 174 0 102 87 1622 G G RNA
chr17 4575333 C G missense_variant MODERATE MISSENSE Gct/Cct A1035P 1180 PELP1 10 178 497 1 10 177 1 54 52 1622 G T RNA
chr17 4575333 C T missense_variant MODERATE MISSENSE Gct/Act A1035T 1180 PELP1 14 178 497 0 15 177 0 54 73 1622 G T RNA
chr17 4575334 T G synonymous_variant LOW SILENT ccA/ccC P1034 1180 PELP1 11 177 506 0 11 177 0 131 57 1622 C G RNA
chr17 4575337 A G synonymous_variant LOW SILENT ccT/ccC P1033 1180 PELP1 14 177 448 0 15 177 0 379 67 1622 G G RNA
chr17 7123830 G A synonymous_variant LOW SILENT agG/agA R85 678 ACADVL 4 381 1530 0 5 381 0 1448 74 1622 G A RNA
chr17 8046679 G C missense_variant MODERATE MISSENSE Ccc/Gcc P993A 1290 PER1 9 65 711 0 10 65 0 640 71 1622 G G RNA
chr19 14593693 T C synonymous_variant LOW SILENT ccA/ccG P32 333 GIPC1 20 43 414 0 21 43 0 328 86 1622 C G RNA
chr19 18234403 A G missense_variant MODERATE MISSENSE Acg/Gcg T162A 1309 MAST3 39 92 56 0 39 92 0 34 22 1622 A C RNA
chr19 42865056 C T missense_variant MODERATE MISSENSE cCc/cTc P1873L 2845 MEGF8 12 194 205 0 13 194 0 179 26 1622 C C RNA
chr2 219082213 A G missense_variant MODERATE MISSENSE aAc/aGc N7S 300 ARPC2 4 244 1611 0 5 244 0 1535 76 1622 A C RNA
chr2 220348324 A G missense_variant MODERATE MISSENSE Agc/Ggc S2047G 3267 SPEG 31 12 96 0 31 12 0 66 30 1622 C G RNA
chr21 34923319 A G synonymous_variant LOW SILENT ctA/ctG L594 2426 SON 19 147 261 0 19 147 0 211 50 1622 T G RNA
chr3 58141791 A G missense_variant MODERATE MISSENSE Atg/Gtg M2324V 2633 FLNB 31 133 112 0 31 133 0 77 35 1622 T T RNA
chr3 62423807 T C missense_variant MODERATE MISSENSE gAg/gGg E1250G 1353 CADPS 38 76 111 0 39 76 0 68 43 1622 C C RNA
chr4 6331057 C T synonymous_variant LOW SILENT aaG/aaA K328 447 PPP2R2C 38 153 126 0 38 153 0 78 48 1622 G T RNA
chr4 170634240 G A synonymous_variant LOW SILENT agG/agA R720 866 CLCN3 5 452 508 0 6 452 0 476 30 1622 G A RNA
chr6 32549540 C T missense_variant MODERATE MISSENSE aGt/aAt S149N 266 HLA-DRB1 33 119 2382 0 33 119 0 1594 788 1622 A T RNA
chr6 32552026 C T missense_variant MODERATE MISSENSE cGg/cAg R77Q 266 HLA-DRB1 22 313 1963 0 22 312 1 1522 441 1622 C G RNA
chr6 32605288 T C missense_variant MODERATE MISSENSE aTg/aCg M18T 255 HLA-DQA1 35 79 657 0 35 79 0 426 231 1622 A G RNA
chr7 39990344 A G missense_variant MODERATE MISSENSE cAg/cGg Q35R 1512 CDK13 30 34 73 0 30 34 0 51 22 1622 C G RNA
chr7 75633160 C T missense_variant MODERATE MISSENSE Gct/Act A205T 313 STYXL1 37 171 158 0 38 171 0 98 60 1622 G A RNA
chr7 107849908 G T missense_variant MODERATE MISSENSE aaC/aaA N344K 1304 NRCAM 11 278 867 0 11 0 0 1 97 1622 C T RNA
chr8 101271291 C T synonymous_variant LOW SILENT ggG/ggA G670 838 RNF19A 7 455 330 0 8 455 0 305 25 1622 T C RNA
chr8 144875154 G A missense_variant MODERATE MISSENSE Cct/Tct P1337S 1655 SCRIB 5 120 853 0 6 120 0 804 49 1622 G G RNA
chr8 145051883 C T synonymous_variant LOW SILENT ctG/ctA L949 1025 PARP10 22 129 245 0 22 129 0 190 54 1622 T A RNA
chr1 949581 T C missense_variant MODERATE MISSENSE gTg/gCg V74A 165 ISG15 13 144 398 0 14 144 0 342 55 1625 G G RNA
chr1 39494452 C T missense_variant MODERATE MISSENSE aCa/aTa T19I 106 NDUFS5 4 123 3294 0 5 123 0 3129 164 1625 A A RNA
chr1 144864143 G A synonymous_variant, intron_variant, intron_variant LOW, MODIFIER, MODIFIER SILENT, -, - aaC/aaT, -, - N1984, -, - 2362, 4963, 1110 PDE4DIP, NBPF20, NBPF9 27 15 153 0 27 15 0 111 42 1625 C T RNA
chr1 144879485 G C missense_variant, intron_variant, intron_variant MODERATE, MODIFIER, MODIFIER MISSENSE, -, - aCa/aGa, -, - T1322R, -, - 2362, 4963, 1110 PDE4DIP, NBPF20, NBPF9 29 114 194 0 30 114 0 136 58 1625 T T RNA
chr1 144880832 T C missense_variant, intron_variant, intron_variant MODERATE, MODIFIER, MODIFIER MISSENSE, -, - Aag/Gag, -, - K1266E, -, - 2362, 4963, 1110 PDE4DIP, NBPF20, NBPF9 28 81 135 0 29 81 0 96 39 1625 T G RNA
chr1 144922600 T G synonymous_variant, intron_variant, intron_variant LOW, MODIFIER, MODIFIER SILENT, -, - ctA/ctC, -, - L269, -, - 2362, 4963, 1110 PDE4DIP, NBPF20, NBPF9 32 621 310 0 32 620 1 210 100 1625 T A RNA
chr1 144952207 C T missense_variant, intron_variant, intron_variant MODERATE, MODIFIER, MODIFIER MISSENSE, -, - aGg/aAg, -, - R171K, -, - 2362, 4963, 1110 PDE4DIP, NBPF20, NBPF9 13 231 234 0 13 231 0 203 31 1625 C T RNA
chr1 148592956 C T synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - gaC/gaT, - D552, - 670, - NBPF15, NBPF25P 35 11 79 0 35 11 0 51 28 1625 A G RNA
chr1 160302244 T C missense_variant MODERATE MISSENSE Att/Gtt I164V 1233 COPA 10 125 280 0 11 125 0 250 30 1625 A A RNA
chr1 160385953 C T missense_variant MODERATE MISSENSE tCc/tTc S58F 521 VANGL2 10 61 352 0 11 61 0 314 38 1625 T C RNA
chr10 5498061 T G missense_variant MODERATE MISSENSE atT/atG I403M 596 NET1 37 431 93 0 38 431 0 58 35 1625 T T RNA
chr10 5777307 A C missense_variant MODERATE MISSENSE aaA/aaC K415N 2430 FAM208B 31 119 86 0 31 119 0 59 27 1625 A T RNA
chr11 62105437 A G 5_prime_UTR_premature_start_codon_gain_variant LOW - - - 308 ASRGL1 20 36 160 0 20 36 0 128 32 1625 T G RNA
chr11 115047301 T G missense_variant MODERATE MISSENSE Act/Cct T437P 471 CADM1 11 192 262 0 11 192 0 233 29 1625 G G RNA
chr12 7045885 A T missense_variant MODERATE MISSENSE caA/caT Q485H 1190 ATN1 8 289 627 0 8 255 0 567 51 1625 A C RNA
chr12 7045891 A T missense_variant MODERATE MISSENSE caA/caT Q487H 1190 ATN1 8 287 687 0 9 230 0 548 61 1625 A C RNA
chr12 41323719 A G synonymous_variant LOW SILENT aaA/aaG K206 1018 CNTN1 6 292 688 0 6 292 0 645 43 1625 A G RNA
chr15 30053392 T A synonymous_variant LOW SILENT tcA/tcT S387 1835 TJP1 31 70 139 0 32 70 0 95 44 1625 C G RNA
chr15 77473965 T C missense_variant MODERATE MISSENSE Ata/Gta I102V 1746 PEAK1 33 575 68 0 34 575 0 45 23 1625 A G RNA
chr16 4408436 G C missense_variant, missense_variant MODERATE, MODERATE MISSENSE, MISSENSE Ctg/Gtg, Ctg/Gtg L797V, L797V 1048, 925 CORO7-PAM16, CORO7 37 42 301 0 38 42 0 188 113 1625 A C RNA
chr17 43528120 C T missense_variant MODERATE MISSENSE cGg/cAg R836Q 1056 PLEKHM1 40 9 185 0 40 9 0 111 74 1625 C G RNA
chr17 74077746 T A missense_variant MODERATE MISSENSE Tac/Aac Y264N 412 ZACN 11 534 647 0 12 534 0 571 76 1625 C A RNA
chr19 10221016 C T missense_variant, missense_variant MODERATE, MODERATE MISSENSE, MISSENSE aCa/aTa, aCa/aTa T280I, T280I 473, 794 PPAN, PPAN-P2RY11 36 112 168 0 36 112 0 107 61 1625 A A RNA
chr2 44571077 A C missense_variant MODERATE MISSENSE aaT/aaG N141K 727 PREPL 10 128 357 0 10 128 0 320 37 1625 A T RNA
chr2 85554166 C G missense_variant MODERATE MISSENSE gGc/gCc G230A 480 TGOLN2 5 734 362 0 6 734 0 341 21 1625 G C RNA
chr20 36147563 T C missense_variant MODERATE MISSENSE cAg/cGg Q5R 87 BLCAP 8 21 1183 0 9 21 0 1077 106 1625 C G RNA
chr20 50292734 A G synonymous_variant LOW SILENT ggT/ggC G271 1047 ATP9A 5 256 497 0 5 256 0 468 26 1625 C C RNA
chr20 62839434 G A synonymous_variant LOW SILENT gaG/gaA E295 1121 MYT1 38 118 78 0 38 118 0 46 30 1625 A G RNA
chr21 34923319 A G synonymous_variant LOW SILENT ctA/ctG L594 2426 SON 15 147 333 0 15 147 0 282 51 1625 T G RNA
chr22 50659392 A G synonymous_variant LOW SILENT aaT/aaC N1132 1819 TUBGCP6 7 627 271 0 8 626 1 250 21 1625 T T RNA
chr3 51430657 A C synonymous_variant LOW SILENT tcA/tcC S609 890 RBM15B 16 142 300 0 16 142 0 251 49 1625 C C RNA
chr3 57294789 A G missense_variant MODERATE MISSENSE aAt/aGt N610S 709 APPL1 18 286 128 0 19 286 0 104 24 1625 A T RNA
chr3 58415907 A C synonymous_variant LOW SILENT gcT/gcG A216 359 PDHB 25 168 505 0 25 168 0 377 128 1625 G G RNA
chr4 144467987 G C missense_variant MODERATE MISSENSE tGg/tCg W860S 1052 SMARCA5 17 212 189 0 18 212 0 155 34 1625 T G RNA
chr4 158257879 A G synonymous_variant LOW SILENT caA/caG Q608 883 GRIA2 9 56 328 0 9 56 0 297 31 1625 A G RNA
chr4 190864371 G A missense_variant MODERATE MISSENSE aGc/aAc S26N 258 FRG1 10 77 344 0 10 77 0 309 35 1625 A C RNA
chr5 96503247 C T missense_variant MODERATE MISSENSE Ggc/Agc G441S 552 RIOK2 33 225 99 0 33 225 0 66 33 1625 C A RNA
chr5 179707526 A G synonymous_variant LOW SILENT agT/agC S12 424 MAPK9 12 231 239 0 12 231 0 210 29 1625 C C RNA
chr6 29911906 C A synonymous_variant LOW SILENT ccC/ccA P209 365 HLA-A 13 48 7414 0 14 48 0 6378 1036 1625 C A RNA
chr6 29911916 A G missense_variant MODERATE MISSENSE Atg/Gtg M213V 365 HLA-A 15 46 7071 0 15 46 0 6008 1063 1625 T T RNA
chr6 29911947 C T missense_variant MODERATE MISSENSE gCc/gTc A223V 365 HLA-A 11 38 8399 0 11 38 0 7457 940 1625 G C RNA
chr6 32605284 G A missense_variant MODERATE MISSENSE Gtg/Atg V17M 255 HLA-DQA1 37 79 546 0 38 79 0 340 206 1625 C T RNA
chr6 32605295 C T synonymous_variant LOW SILENT ccC/ccT P20 255 HLA-DQA1 38 74 581 0 38 74 0 359 222 1625 C T RNA
chr6 32605309 A G missense_variant MODERATE MISSENSE gAc/gGc D25G 255 HLA-DQA1 38 72 627 0 39 72 0 385 242 1625 G C RNA
chr6 32632704 G C missense_variant MODERATE MISSENSE Ccg/Gcg P84A 269 HLA-DQB1 8 268 501 0 8 267 1 459 42 1625 G C RNA
chr6 32632706 G C missense_variant MODERATE MISSENSE aCg/aGg T83R 269 HLA-DQB1 8 268 492 0 9 267 1 450 42 1625 C T RNA
chr6 102372589 A G missense_variant MODERATE MISSENSE cAg/cGg Q621R 908 GRIK2 30 184 209 0 30 184 0 146 63 1625 C G RNA
chr7 39990344 A G missense_variant MODERATE MISSENSE cAg/cGg Q35R 1512 CDK13 20 34 144 0 21 34 0 114 30 1625 C G RNA
chr8 103841636 T C missense_variant MODERATE MISSENSE Agc/Ggc S367G 448 AZIN1 12 332 588 0 13 332 0 513 75 1625 C T RNA
chr9 37861148 C G synonymous_variant LOW SILENT gtC/gtG V441 559 DCAF10 32 191 76 0 33 191 0 51 25 1625 T T RNA
chrX 92927164 C T synonymous_variant LOW SILENT aaG/aaA K380 506 NAP1L3 19 125 509 0 20 125 0 408 101 1625 C T RNA
chr1 144880832 T C missense_variant, intron_variant, intron_variant MODERATE, MODIFIER, MODIFIER MISSENSE, -, - Aag/Gag, -, - K1266E, -, - 2362, 4963, 1110 PDE4DIP, NBPF20, NBPF9 30 81 68 0 31 81 0 47 21 1628 T G RNA
chr1 160302244 T C missense_variant MODERATE MISSENSE Att/Gtt I164V 1233 COPA 21 125 332 0 22 125 0 259 73 1628 A A RNA
chr10 81052051 G A missense_variant MODERATE MISSENSE Gcc/Acc A299T 1067 ZMIZ1 36 31 289 0 37 31 0 183 106 1628 A C RNA
chr11 112097222 C T missense_variant MODERATE MISSENSE tCc/tTc S19F 145 PTS 28 81 173 0 28 81 0 124 49 1628 T C RNA
chr12 22199486 G A synonymous_variant LOW SILENT ggG/ggA G83 434 CMAS 36 61 175 0 37 61 0 111 64 1628 G G RNA
chr12 58220801 G T missense_variant MODERATE MISSENSE aCc/aAc T111N 271 CTDSP2 16 81 378 1 16 80 1 316 62 1628 G T RNA
chr12 133682595 T C synonymous_variant LOW SILENT ccT/ccC P244 457 ZNF140 21 151 97 0 22 151 0 76 21 1628 C T RNA
chr16 58549775 G A synonymous_variant LOW SILENT ctG/ctA L36 473 SETD6 38 87 83 0 39 87 0 51 32 1628 T A RNA
chr17 60061569 G T missense_variant MODERATE MISSENSE Ctt/Att L951I 2174 MED13 40 306 147 0 40 306 0 88 59 1628 A C RNA
chr19 14593693 T C synonymous_variant LOW SILENT ccA/ccG P32 333 GIPC1 17 43 307 0 17 43 0 254 53 1628 C G RNA
chr19 51021280 C T missense_variant MODERATE MISSENSE Gcc/Acc A564T 713 LRRC4B 6 181 322 0 7 181 0 300 22 1628 G G RNA
chr19 54937862 C T synonymous_variant LOW SILENT taC/taT Y217 460 TTYH1 9 55 1088 0 9 55 0 986 102 1628 A G RNA
chr19 54946784 A G synonymous_variant LOW SILENT ctA/ctG L396 460 TTYH1 12 93 1304 0 12 93 0 1141 158 1628 T C RNA
chr2 165997297 G C missense_variant MODERATE MISSENSE gCc/gGc A628G 2000 SCN3A 16 254 406 0 17 254 0 337 69 1628 G C RNA
chr20 36147563 T C missense_variant MODERATE MISSENSE cAg/cGg Q5R 87 BLCAP 10 21 575 0 11 21 0 512 63 1628 C G RNA
chr21 34923319 A G synonymous_variant LOW SILENT ctA/ctG L594 2426 SON 16 147 437 0 17 147 0 364 73 1628 T G RNA
chr3 24164469 A G missense_variant MODERATE MISSENSE aTa/aCa I431T 461 THRB 34 200 58 0 34 200 0 38 20 1628 T T RNA
chr3 50294275 C T synonymous_variant LOW SILENT gaC/gaT D238 355 GNAI2 37 199 1084 0 38 199 0 674 410 1628 A G RNA
chr3 58141791 A G missense_variant MODERATE MISSENSE Atg/Gtg M2324V 2633 FLNB 27 133 72 0 28 133 0 52 20 1628 T T RNA
chr4 158257879 A G synonymous_variant LOW SILENT caA/caG Q608 883 GRIA2 17 56 249 0 18 56 0 205 44 1628 A G RNA
chr4 170634240 G A synonymous_variant LOW SILENT agG/agA R720 866 CLCN3 7 452 322 0 7 452 0 299 23 1628 G A RNA
chr4 190864384 A G synonymous_variant LOW SILENT aaA/aaG K30 258 FRG1 9 89 242 0 10 89 0 219 23 1628 A A RNA
chr6 31997401 G A synonymous_variant, synonymous_variant, synonymous_variant LOW, LOW, LOW SILENT, SILENT, SILENT ccG/ccA, ccG/ccA, ccG/ccA P1245, P1245, P1245 1744, 1744, 1744 C4A, C4B, C4B_2 22 10 264 0 23 10 0 204 60 1628 C G RNA
chr6 32146321 C T synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - ccC/ccT, - P11, - 180, - RNF5, RNF5P1 38 148 480 0 38 148 0 296 184 1628 C G RNA
chr6 32165300 A G synonymous_variant LOW SILENT Ttg/Ctg L1610 2003 NOTCH4 40 212 67 0 40 212 0 40 27 1628 A C RNA
chr6 32549362 G A synonymous_variant LOW SILENT agC/agT S208 266 HLA-DRB1 32 74 507 0 32 74 0 343 164 1628 C C RNA
chr6 32549392 C T synonymous_variant LOW SILENT gaG/gaA E198 266 HLA-DRB1 31 73 447 0 32 73 0 305 142 1628 C T RNA
chr6 32549540 C T missense_variant MODERATE MISSENSE aGt/aAt S149N 266 HLA-DRB1 9 119 427 0 10 119 0 385 42 1628 A T RNA
chr6 32549587 T G synonymous_variant LOW SILENT tcA/tcC S133 266 HLA-DRB1 22 100 403 0 22 100 0 313 90 1628 T G RNA
chr6 32549607 T C missense_variant MODERATE MISSENSE Aag/Gag K127E 266 HLA-DRB1 18 93 358 0 18 82 0 285 65 1628 T A RNA
chr6 32551928 G A missense_variant MODERATE MISSENSE Cac/Tac H110Y 266 HLA-DRB1 17 131 357 0 17 131 0 295 62 1628 T T RNA
chr6 32551957 G C missense_variant MODERATE MISSENSE gCg/gGg A100G 266 HLA-DRB1 28 160 218 0 29 109 0 2 63 1628 C C RNA
chr6 32551960 T C missense_variant MODERATE MISSENSE cAg/cGg Q99R 266 HLA-DRB1 26 184 223 0 26 184 0 164 59 1628 C G RNA
chr6 32552010 C T synonymous_variant LOW SILENT ctG/ctA L82 266 HLA-DRB1 22 302 406 0 22 302 0 316 90 1628 C A RNA
chr6 32605295 C T synonymous_variant LOW SILENT ccC/ccT P20 255 HLA-DQA1 31 74 70 0 31 74 0 48 22 1628 C T RNA
chr6 32610481 T C synonymous_variant LOW SILENT acT/acC T236 255 HLA-DQA1 30 227 68 0 31 226 1 47 21 1628 C G RNA
chr6 32610487 C G missense_variant MODERATE MISSENSE ttC/ttG F238L 255 HLA-DQA1 29 231 71 0 30 230 1 50 21 1628 T A RNA
chr7 2394845 G A missense_variant MODERATE MISSENSE Gct/Act A97T 814 EIF3B 34 24 341 0 35 24 0 222 119 1628 T C RNA
chr7 35872413 G T missense_variant MODERATE MISSENSE caG/caT Q23H 436 SEPT7 6 89 940 0 7 89 0 878 62 1628 A A RNA
chr7 101559428 A G missense_variant MODERATE MISSENSE Aac/Gac N33D 1516 CUX1 37 270 292 0 37 270 0 183 109 1628 G A RNA
chr8 121706001 T C missense_variant MODERATE MISSENSE gAc/gGc D240G 538 SNTB1 32 185 77 0 32 185 0 52 25 1628 G C RNA
chr8 125335598 A G missense_variant MODERATE MISSENSE Tct/Cct S146P 240 TMEM65 28 124 220 0 28 124 0 158 62 1628 G C RNA
chr8 131136273 G C synonymous_variant LOW SILENT acC/acG T531 1129 ASAP1 29 64 164 0 30 64 0 115 49 1628 G G RNA
chr8 143746050 C T missense_variant MODERATE MISSENSE Gga/Aga G476R 568 JRK 25 293 81 0 26 291 1 59 21 1628 C G RNA
chr8 144899206 C T synonymous_variant LOW SILENT gaG/gaA E418 559 PUF60 33 245 1170 0 33 245 0 780 388 1628 T T RNA
chr9 100672675 G A synonymous_variant LOW SILENT ccC/ccT P211 441 C9orf156 26 218 123 0 27 218 0 90 33 1628 G G RNA
chr9 132571660 T C missense_variant MODERATE MISSENSE aTt/aCt I270T 336 TOR1B 37 245 159 0 37 245 0 100 59 1628 A T RNA
chr1 148011051 C T missense_variant MODERATE MISSENSE aGc/aAc S620N 942 NBPF8 37 15 59 0 37 15 0 37 22 1632 G T RNA
chr1 148592953 T C synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - ctT/ctC, - L551, - 670, - NBPF15, NBPF25P 15 11 135 0 16 11 0 114 21 1632 T G RNA
chr1 148592956 C T synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - gaC/gaT, - D552, - 670, - NBPF15, NBPF25P 17 11 117 0 18 11 0 96 21 1632 A G RNA
chr1 155707964 G A synonymous_variant LOW SILENT ggG/ggA G376 398 DAP3 5 213 1056 0 5 213 0 998 56 1632 G A RNA
chr1 160302244 T C missense_variant MODERATE MISSENSE Att/Gtt I164V 1233 COPA 21 125 419 0 22 125 0 328 91 1632 A A RNA
chr1 202731893 C T synonymous_variant LOW SILENT agG/agA R284 1544 KDM5B 37 309 107 0 37 309 0 67 40 1632 T C RNA
chr10 95119704 A T missense_variant MODERATE MISSENSE gaT/gaA D1002E 2061 MYOF 34 233 73 0 34 233 0 48 25 1632 G T RNA
chr10 111625052 A G missense_variant MODERATE MISSENSE Tac/Cac Y631H 666 XPNPEP1 7 224 322 0 8 224 0 297 25 1632 T A RNA
chr10 120801774 G A synonymous_variant LOW SILENT gaC/gaT D1086 1382 EIF3A 4 419 432 0 5 419 0 408 21 1632 G T RNA
chr11 5274599 G A missense_variant MODERATE MISSENSE Cat/Tat H118Y 147 HBG2 23 187 186 0 23 187 0 143 43 1632 T G RNA
chr11 5275540 C T synonymous_variant LOW SILENT gtG/gtA V99 147 HBG2 18 139 142 1 18 138 1 116 26 1632 C A RNA
chr11 5275567 A G synonymous_variant LOW SILENT agT/agC S90 147 HBG2 22 168 158 0 22 168 0 123 35 1632 C C RNA
chr12 7045867 T G missense_variant MODERATE MISSENSE caT/caG H479Q 1190 ATN1 6 304 715 0 6 298 1 662 45 1632 A C RNA
chr12 31242420 G A synonymous_variant LOW SILENT agG/agA R292 970 DDX11 20 64 163 0 21 64 0 129 34 1632 G C RNA
chr12 31242421 C G missense_variant MODERATE MISSENSE Cac/Gac H293D 970 DDX11 20 64 160 0 21 64 0 127 33 1632 G A RNA
chr12 58220801 G T missense_variant MODERATE MISSENSE aCc/aAc T111N 271 CTDSP2 11 81 440 1 12 80 1 388 52 1632 G T RNA
chr12 58220809 G T synonymous_variant LOW SILENT ctC/ctA L108 271 CTDSP2 11 84 447 1 12 71 1 268 52 1632 C A RNA
chr15 100252750 C A missense_variant MODERATE MISSENSE cCa/cAa P425Q 499 MEF2A 14 117 173 0 14 117 0 148 25 1632 C A RNA
chr15 100252753 C A missense_variant MODERATE MISSENSE cCa/cAa P426Q 499 MEF2A 11 109 169 0 12 109 0 149 20 1632 C A RNA
chr15 100252754 A G synonymous_variant LOW SILENT ccA/ccG P426 499 MEF2A 16 86 165 0 16 86 0 138 27 1632 C C RNA
chr15 100252759 A C missense_variant MODERATE MISSENSE cAg/cCg Q428P 499 MEF2A 12 108 173 0 12 108 0 151 21 1632 C G RNA
chr16 227317 C T synonymous_variant LOW SILENT gcC/gcT A112 142 HBA1 39 128 56 0 39 128 0 34 22 1632 C C RNA
chr17 7416758 A C synonymous_variant LOW SILENT ccA/ccC P1725 1970 POLR2A 5 1558 416 0 6 1557 1 391 24 1632 C A RNA
chr17 7416764 T C synonymous_variant LOW SILENT taT/taC Y1727 1970 POLR2A 4 1544 415 0 5 1544 0 395 20 1632 A T RNA
chr17 48263226 G T synonymous_variant LOW SILENT gcC/gcA A1387 1464 COL1A1 21 192 272 0 21 192 0 214 58 1632 G G RNA
chr17 48263366 G C missense_variant MODERATE MISSENSE Cag/Gag Q1341E 1464 COL1A1 20 72 297 0 20 72 0 237 60 1632 T G RNA
chr17 48263687 A G synonymous_variant LOW SILENT gaT/gaC D1332 1464 COL1A1 17 229 281 0 17 229 0 233 48 1632 C T RNA
chr17 48263714 A G synonymous_variant LOW SILENT caT/caC H1323 1464 COL1A1 14 275 244 0 15 275 0 208 36 1632 C T RNA
chr17 48264035 A G synonymous_variant LOW SILENT cgT/cgC R1260 1464 COL1A1 17 191 250 0 18 191 0 206 44 1632 C C RNA
chr17 48264071 T G synonymous_variant LOW SILENT ccA/ccC P1248 1464 COL1A1 21 214 254 0 21 213 0 200 54 1632 C G RNA
chr17 48264179 A G synonymous_variant LOW SILENT ggT/ggC G1212 1464 COL1A1 21 385 223 0 21 385 0 176 47 1632 C C RNA
chr17 48264234 G C missense_variant MODERATE MISSENSE gCt/gGt A1194G 1464 COL1A1 21 279 221 0 21 279 0 174 47 1632 A C RNA
chr17 48264257 A G synonymous_variant LOW SILENT ccT/ccC P1186 1464 COL1A1 19 275 226 0 19 275 0 182 44 1632 C G RNA
chr17 48264436 A G synonymous_variant LOW SILENT ggT/ggC G1157 1464 COL1A1 20 108 217 0 20 108 0 172 44 1632 G C RNA
chr17 48264462 C T missense_variant MODERATE MISSENSE Gct/Act A1149T 1464 COL1A1 17 70 218 0 18 70 0 178 39 1632 G A RNA
chr17 48265300 C T synonymous_variant LOW SILENT caG/caA Q1102 1464 COL1A1 14 170 195 0 14 170 0 167 28 1632 C T RNA
chr17 48265502 A G synonymous_variant LOW SILENT gcT/gcC A1072 1464 COL1A1 17 63 262 0 18 63 0 216 46 1632 C G RNA
chr17 48265966 G A synonymous_variant LOW SILENT ccC/ccT P1044 1464 COL1A1 23 300 245 0 24 299 0 186 58 1632 G G RNA
chr17 48265981 G A synonymous_variant LOW SILENT acC/acT T1039 1464 COL1A1 20 308 254 0 21 308 0 200 53 1632 C G RNA
chr17 48266108 C G missense_variant MODERATE MISSENSE Gcc/Ccc A1032P 1464 COL1A1 20 316 230 0 20 315 0 183 47 1632 G G RNA
chr17 48266291 A G synonymous_variant LOW SILENT gcT/gcC A1006 1464 COL1A1 19 257 270 0 19 257 0 217 52 1632 C G RNA
chr17 48266628 A G synonymous_variant LOW SILENT ccT/ccC P946 1464 COL1A1 14 223 261 0 15 223 0 222 39 1632 C G RNA
chr17 48266744 A C synonymous_variant LOW SILENT ggT/ggG G941 1464 COL1A1 21 268 250 0 22 268 0 194 54 1632 G C RNA
chr17 48266777 A G synonymous_variant LOW SILENT ccT/ccC P930 1464 COL1A1 24 279 234 0 25 279 0 176 58 1632 C G RNA
chr17 48267252 C G missense_variant MODERATE MISSENSE Gcc/Ccc A861P 1464 COL1A1 20 143 237 0 21 143 0 188 49 1632 G T RNA
chr17 48267452 A G synonymous_variant LOW SILENT ccT/ccC P823 1464 COL1A1 19 250 276 0 20 250 0 221 55 1632 C G RNA
chr17 48267700 A G synonymous_variant LOW SILENT ttT/ttC F813 1464 COL1A1 20 160 278 0 21 160 0 220 58 1632 C A RNA
chr17 48267950 C G missense_variant MODERATE MISSENSE aGt/aCt S784T 1464 COL1A1 23 105 256 0 24 105 0 195 61 1632 A T RNA
chr17 48268202 G A synonymous_variant LOW SILENT ggC/ggT G773 1464 COL1A1 22 149 240 0 22 149 0 186 54 1632 G C RNA
chr17 48269236 A T synonymous_variant LOW SILENT ggT/ggA G680 1464 COL1A1 25 176 141 0 26 176 0 105 36 1632 A C RNA
chr17 48269863 T G synonymous_variant LOW SILENT ccA/ccC P652 1464 COL1A1 23 96 163 0 23 96 0 124 38 1632 C G RNA
chr17 48269875 A G synonymous_variant LOW SILENT ccT/ccC P648 1464 COL1A1 21 107 174 0 21 107 0 137 37 1632 C G RNA
chr17 48269878 A G synonymous_variant LOW SILENT ggT/ggC G647 1464 COL1A1 13 108 172 0 14 108 0 138 24 1632 G C RNA
chr17 48270007 T G synonymous_variant LOW SILENT ggA/ggC G641 1464 COL1A1 26 322 174 0 26 321 0 128 46 1632 A C RNA
chr17 48271361 T G synonymous_variant LOW SILENT ccA/ccC P570 1464 COL1A1 23 260 234 0 24 260 0 179 55 1632 G G RNA
chr17 48272166 G A synonymous_variant LOW SILENT ccC/ccT P459 1464 COL1A1 21 44 139 0 22 44 0 109 30 1632 G G RNA
chr17 48272184 A G synonymous_variant LOW SILENT ccT/ccC P453 1464 COL1A1 19 34 122 0 20 34 0 98 24 1632 C G RNA
chr17 48272411 C T synonymous_variant LOW SILENT gaG/gaA E450 1464 COL1A1 18 59 132 0 19 59 0 107 25 1632 G T RNA
chr17 48272611 A G synonymous_variant LOW SILENT ccT/ccC P427 1464 COL1A1 20 81 125 0 21 81 0 99 26 1632 C G RNA
chr17 48273006 C A synonymous_variant LOW SILENT ggG/ggT G359 1464 COL1A1 27 173 147 0 27 173 0 107 40 1632 G C RNA
chr17 48273329 G A synonymous_variant LOW SILENT acC/acT T337 1464 COL1A1 24 102 163 0 25 102 0 123 40 1632 C G RNA
chr17 48273522 C T synonymous_variant LOW SILENT ggG/ggA G332 1464 COL1A1 24 295 183 0 25 295 0 138 45 1632 G C RNA
chr17 48273552 A G synonymous_variant LOW SILENT cgT/cgC R322 1464 COL1A1 34 299 196 0 34 299 0 129 67 1632 C C RNA
chr17 48273717 G A synonymous_variant LOW SILENT ggC/ggT G305 1464 COL1A1 33 257 181 0 33 257 0 121 60 1632 G C RNA
chr17 48275120 T A synonymous_variant LOW SILENT ccA/ccT P223 1464 COL1A1 19 77 112 0 20 77 0 90 22 1632 C G RNA
chr17 76047148 A G missense_variant MODERATE MISSENSE Agc/Ggc S669G 1726 TNRC6C 26 97 123 0 26 97 0 91 32 1632 T G RNA
chr19 14593693 T C synonymous_variant LOW SILENT ccA/ccG P32 333 GIPC1 13 43 233 0 14 43 0 201 32 1632 C G RNA
chr2 99779039 A C missense_variant MODERATE MISSENSE Agc/Cgc S207R 373 LIPT1 37 313 58 0 38 313 0 36 22 1632 T G RNA
chr20 32664861 G C missense_variant MODERATE MISSENSE gGc/gCc G229A 306 RALY 6 71 1081 0 7 70 0 1007 71 1632 G C RNA
chr21 34923319 A G synonymous_variant LOW SILENT ctA/ctG L594 2426 SON 18 147 330 0 18 147 0 269 61 1632 T G RNA
chr3 58141791 A G missense_variant MODERATE MISSENSE Atg/Gtg M2324V 2633 FLNB 24 133 82 0 24 133 0 62 20 1632 T T RNA
chr3 62423807 T C missense_variant MODERATE MISSENSE gAg/gGg E1250G 1353 CADPS 34 76 276 0 34 76 0 182 94 1632 C C RNA
chr4 170634240 G A synonymous_variant LOW SILENT agG/agA R720 866 CLCN3 8 452 264 0 9 452 0 240 23 1632 G A RNA
chr5 76989089 A T missense_variant MODERATE MISSENSE gTa/gAa V83E 129 TBCA 28 143 73 0 29 143 0 52 21 1632 T C RNA
chr5 140572715 A G missense_variant MODERATE MISSENSE gAc/gGc D197G 800 PCDHB10 33 260 161 0 34 260 0 107 54 1632 G C RNA
chr6 29797449 G A missense_variant MODERATE MISSENSE Gag/Aag E292K 338 HLA-G 26 92 89 0 27 92 0 65 24 1632 G A RNA
chr6 31639757 G A missense_variant MODERATE MISSENSE Gat/Aat D102N 201 LY6G5B 35 419 229 0 36 419 0 147 82 1632 C A RNA
chr6 32489856 C G missense_variant MODERATE MISSENSE Gac/Cac D66H 266 HLA-DRB5 17 127 2621 1 18 61 1 7 460 1632 T C RNA
chr6 32609213 G A missense_variant MODERATE MISSENSE cGg/cAg R70Q 255 HLA-DQA1 35 85 200 0 35 85 0 130 70 1632 C G RNA
chr6 32609221 G C missense_variant MODERATE MISSENSE Gag/Cag E73Q 255 HLA-DQA1 27 91 174 0 28 91 0 126 48 1632 T A RNA
chr6 32610401 G A missense_variant MODERATE MISSENSE Gcc/Acc A210T 255 HLA-DQA1 17 190 327 0 18 190 0 269 58 1632 A C RNA
chr6 32610403 C A synonymous_variant LOW SILENT gcC/gcA A210 255 HLA-DQA1 17 196 320 0 17 196 0 265 55 1632 C C RNA
chr6 102372589 A G missense_variant MODERATE MISSENSE cAg/cGg Q621R 908 GRIK2 19 184 204 0 20 184 0 164 40 1632 C G RNA
chr7 94024367 G A synonymous_variant LOW SILENT cgG/cgA R8 1366 COL1A2 20 174 215 0 21 174 0 170 45 1632 G A RNA
chr7 94024393 T C missense_variant MODERATE MISSENSE tTa/tCa L17S 1366 COL1A2 21 172 175 0 21 172 0 138 37 1632 T A RNA
chr7 94034162 T C synonymous_variant LOW SILENT ggT/ggC G130 1366 COL1A2 24 194 98 0 24 194 0 74 24 1632 G G RNA
chr7 94034163 G T missense_variant MODERATE MISSENSE Gct/Tct A131S 1366 COL1A2 20 192 99 0 20 192 0 79 20 1632 T C RNA
chr7 94037545 A T synonymous_variant LOW SILENT ccA/ccT P230 1366 COL1A2 20 138 122 0 20 138 0 97 25 1632 C G RNA
chr7 94038899 T C synonymous_variant LOW SILENT ctT/ctC L305 1366 COL1A2 21 357 97 0 22 357 0 76 21 1632 T A RNA
chr7 94047061 T C missense_variant MODERATE MISSENSE gTg/gCg V630A 1366 COL1A2 18 101 122 0 18 101 0 100 22 1632 G G RNA
chr7 94049556 G T synonymous_variant LOW SILENT ggG/ggT G697 1366 COL1A2 22 320 204 0 23 320 0 158 46 1632 G G RNA
chr7 94049921 T C synonymous_variant LOW SILENT gtT/gtC V752 1366 COL1A2 18 40 198 0 18 40 0 162 36 1632 T G RNA
chr7 94052302 G T missense_variant MODERATE MISSENSE Gct/Tct A813S 1366 COL1A2 14 104 199 0 14 104 0 171 28 1632 T C RNA
chr7 94052373 A T synonymous_variant LOW SILENT gcA/gcT A836 1366 COL1A2 13 97 198 0 13 97 0 172 26 1632 C G RNA
chr7 94052421 T C synonymous_variant LOW SILENT gcT/gcC A852 1366 COL1A2 12 79 187 0 12 79 0 164 23 1632 C G RNA
chr7 94055085 T C synonymous_variant LOW SILENT aaT/aaC N953 1366 COL1A2 12 233 225 0 12 233 0 198 27 1632 A A RNA
chr7 94055087 T A missense_variant MODERATE MISSENSE aTt/aAt I954N 1366 COL1A2 11 231 226 0 12 231 0 199 26 1632 A T RNA
chr7 94055348 C T synonymous_variant LOW SILENT ggC/ggT G994 1366 COL1A2 18 93 166 1 19 92 1 135 31 1632 G C RNA
chr7 94055776 A T missense_variant MODERATE MISSENSE gaA/gaT E1013D 1366 COL1A2 17 201 146 0 17 201 0 121 25 1632 A A RNA
chr7 94055833 T C synonymous_variant LOW SILENT ccT/ccC P1032 1366 COL1A2 15 190 133 0 16 190 0 112 21 1632 C G RNA
chr7 94055837 A C missense_variant MODERATE MISSENSE Atc/Ctc I1034L 1366 COL1A2 15 185 132 0 16 184 0 111 21 1632 T T RNA
chr7 94056508 T C synonymous_variant LOW SILENT gcT/gcC A1056 1366 COL1A2 15 119 179 0 15 119 0 152 27 1632 C G RNA
chr7 94056962 T A synonymous_variant LOW SILENT ccT/ccA P1097 1366 COL1A2 13 82 169 0 14 82 0 146 23 1632 C C RNA
chr7 94056983 C T synonymous_variant LOW SILENT agC/agT S1104 1366 COL1A2 12 100 175 0 12 100 0 154 21 1632 G G RNA
chr7 94057067 C T synonymous_variant LOW SILENT gaC/gaT D1132 1366 COL1A2 13 181 182 0 14 181 0 157 25 1632 A T RNA
chr7 94057738 C T synonymous_variant LOW SILENT tcC/tcT S1220 1366 COL1A2 14 144 219 0 15 144 0 187 32 1632 C A RNA
chr7 94058508 T C synonymous_variant LOW SILENT taT/taC Y1240 1366 COL1A2 14 183 275 0 15 183 0 235 40 1632 A A RNA
chr7 94058563 C T synonymous_variant LOW SILENT Ctg/Ttg L1259 1366 COL1A2 12 216 290 0 12 216 0 254 36 1632 C T RNA
chr7 94058727 T C synonymous_variant LOW SILENT ctT/ctC L1313 1366 COL1A2 9 123 307 0 10 123 0 277 30 1632 T G RNA
chr8 22481855 G A synonymous_variant LOW SILENT agC/agT S120 253 BIN3 33 188 117 0 33 188 0 78 39 1632 G C RNA
chr8 101271291 C T synonymous_variant LOW SILENT ggG/ggA G670 838 RNF19A 6 455 364 0 6 455 0 341 23 1632 T C RNA
chr8 103841636 T C missense_variant MODERATE MISSENSE Agc/Ggc S367G 448 AZIN1 7 332 554 0 8 332 0 511 43 1632 C T RNA
chr9 130648821 G A missense_variant MODERATE MISSENSE cCg/cTg P352L 374 ST6GALNAC6 35 189 143 0 36 189 0 92 51 1632 C G RNA
chr1 1163983 C T missense_variant MODERATE MISSENSE gGg/gAg G64E 362 SDF4 23 275 812 0 23 275 0 625 187 1637 C C RNA
chr1 2235845 G A missense_variant MODERATE MISSENSE Gcc/Acc A530T 728 SKI 33 167 284 0 34 167 0 188 96 1637 G C RNA
chr1 3544077 G A missense_variant MODERATE MISSENSE Ggg/Agg G162R 272 TPRG1L 31 90 264 0 31 90 0 182 82 1637 T G RNA
chr1 10041108 G A missense_variant MODERATE MISSENSE Gag/Aag E107K 279 NMNAT1 28 93 95 0 28 93 0 68 27 1637 G A RNA
chr1 10292420 G A missense_variant MODERATE MISSENSE Gta/Ata V12I 1770 KIF1B 33 242 140 0 34 242 0 93 47 1637 G T RNA
chr1 11082348 G A synonymous_variant LOW SILENT ggG/ggA G294 414 TARDBP 32 124 483 0 33 124 0 324 159 1637 G G RNA
chr1 14107126 C T missense_variant MODERATE MISSENSE Cct/Tct P946S 1718 PRDM2 31 821 77 0 31 821 0 53 24 1637 T C RNA
chr1 15428082 G A missense_variant MODERATE MISSENSE Gcc/Acc A531T 775 KAZN 38 108 75 0 39 108 0 46 29 1637 G C RNA
chr1 15752479 G A missense_variant MODERATE MISSENSE Gat/Aat D141N 240 EFHD2 18 113 416 0 19 113 0 337 78 1637 G A RNA
chr1 17420098 C T missense_variant MODERATE MISSENSE Gag/Aag E165K 665 PADI2 34 284 116 0 34 284 0 76 40 1637 T C RNA
chr1 18023511 G A missense_variant MODERATE MISSENSE aGc/aAc S1159N 1279 ARHGEF10L 26 72 340 0 26 72 0 251 89 1637 A C RNA
chr1 20975058 G A missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - gGc/gAc, - G395D, - 581, - PINK1, PINK1-AS 31 103 901 0 31 103 0 618 283 1637 G C RNA
chr1 21585235 G A missense_variant MODERATE MISSENSE tCt/tTt S238F 770 ECE1 24 257 395 0 24 257 0 299 96 1637 A A RNA
chr1 22168837 G A missense_variant MODERATE MISSENSE Cct/Tct P2984S 4392 HSPG2 22 106 128 0 23 106 0 99 29 1637 G G RNA
chr1 24019173 G A synonymous_variant LOW SILENT ggG/ggA G27 178 RPL11 27 72 4211 0 27 72 0 3073 1137 1637 G G RNA
chr1 26608833 G A missense_variant MODERATE MISSENSE cCc/cTc P507L 520 UBXN11 18 58 132 0 19 58 0 107 25 1637 G G RNA
chr1 27101493 C T missense_variant MODERATE MISSENSE cCc/cTc P1592L 2285 ARID1A 22 256 145 0 23 256 0 112 33 1637 C C RNA
chr1 27685007 G A synonymous_variant LOW SILENT ctC/ctT L893 1288 MAP3K6 24 124 270 0 25 122 0 203 67 1637 G A RNA
chr1 27874054 G A missense_variant MODERATE MISSENSE Cct/Tct P1525S 1603 AHDC1 21 117 400 0 21 117 0 316 84 1637 G G RNA
chr1 27874150 C T missense_variant MODERATE MISSENSE Ggc/Agc G1493S 1603 AHDC1 29 126 378 0 29 126 0 268 110 1637 C C RNA
chr1 28598939 G A missense_variant MODERATE MISSENSE Gcg/Acg A167T 480 SESN2 34 134 148 0 34 134 0 97 51 1637 G C RNA
chr1 28930063 T A synonymous_variant LOW SILENT acA/acT T158 161 TAF12 22 168 284 0 23 168 0 220 64 1637 T G RNA
chr1 31347165 C T missense_variant MODERATE MISSENSE Gag/Aag E381K 442 SDC3 24 91 933 0 24 91 0 706 225 1637 T C RNA
chr1 32126206 G A missense_variant MODERATE MISSENSE Ccc/Tcc P1287S 1604 COL16A1 26 91 761 0 27 91 0 556 205 1637 G T RNA
chr1 32138434 C T missense_variant MODERATE MISSENSE tGc/tAc C956Y 1604 COL16A1 33 147 517 0 33 147 0 344 173 1637 G A RNA
chr1 32196469 G A missense_variant MODERATE MISSENSE Cca/Tca P1438S 1584 BAI2 16 52 727 0 17 52 0 602 123 1637 G C RNA
chr1 33741725 C T synonymous_variant LOW SILENT aaC/aaT N21 420 ZNF362 33 575 156 0 33 575 0 104 52 1637 A C RNA
chr1 33841024 G A synonymous_variant LOW SILENT cgC/cgT R39 858 PHC2 22 160 94 0 22 160 0 73 21 1637 G C RNA
chr1 35658187 G A missense_variant MODERATE MISSENSE cCt/cTt P155L 707 SFPQ 24 24 500 0 24 24 0 377 122 1637 A G RNA
chr1 39844172 T C missense_variant MODERATE MISSENSE gTa/gCa V2356A 5430 MACF1 33 128 212 0 33 128 0 142 70 1637 G A RNA
chr1 40422829 C T missense_variant MODERATE MISSENSE cCc/cTc P55L 543 MFSD2A 21 165 276 0 21 165 0 218 58 1637 C C RNA
chr1 43282125 G A synonymous_variant LOW SILENT Ctg/Ttg L31 66 CCDC23 15 152 263 0 16 151 0 222 41 1637 A C RNA
chr1 44133625 G A synonymous_variant LOW SILENT gaG/gaA E366 1064 KDM4A 29 66 130 0 29 66 0 92 38 1637 A G RNA
chr1 45269293 G A missense_variant MODERATE MISSENSE aGg/aAg R365K 646 PLK3 25 228 83 0 25 228 0 62 21 1637 A G RNA
chr1 46120498 G A missense_variant MODERATE MISSENSE tCt/tTt S65F 474 GPBP1L1 24 102 218 0 25 102 0 164 54 1637 A A RNA
chr1 50885119 G A missense_variant MODERATE MISSENSE Cct/Tct P283S 542 DMRTA2 23 137 177 0 23 137 0 136 41 1637 G G RNA
chr1 52896901 G A missense_variant MODERATE MISSENSE Ctc/Ttc L1499F 1645 ZCCHC11 30 198 248 0 30 198 0 173 75 1637 A A RNA
chr1 53662627 C T synonymous_variant LOW SILENT cgC/cgT R4 658 CPT2 26 20 92 0 26 20 0 68 24 1637 G C RNA
chr1 55349297 C T synonymous_variant LOW SILENT aaG/aaA K127 516 DHCR24 31 431 224 0 31 429 0 154 70 1637 T T RNA
chr1 62939693 G A missense_variant MODERATE MISSENSE Cat/Tat H2047Y 2129 DOCK7 27 101 455 0 28 101 0 328 127 1637 T A RNA
chr1 85930692 C T missense_variant MODERATE MISSENSE Gcc/Acc A13T 285 DDAH1 17 37 163 0 17 37 0 135 28 1637 G C RNA
chr1 87185222 C T synonymous_variant LOW SILENT Ctg/Ttg L83 394 SH3GLB1 39 188 340 0 39 188 0 207 133 1637 A T RNA
chr1 115276656 G A missense_variant MODERATE MISSENSE aCc/aTc T268I 844 CSDE1 35 189 618 0 36 189 0 396 221 1637 G T RNA
chr1 144880832 T C missense_variant, intron_variant, intron_variant MODERATE, MODIFIER, MODIFIER MISSENSE, -, - Aag/Gag, -, - K1266E, -, - 2362, 4963, 1110 PDE4DIP, NBPF20, NBPF9 37 81 168 0 38 81 0 105 63 1637 T G RNA
chr1 145281387 C T missense_variant, intron_variant, intron_variant MODERATE, MODIFIER, MODIFIER MISSENSE, -, - aCc/aTc, -, - T106I, -, - 236, 4963, 1110 NOTCH2NL, NBPF20, NBPF9 13 473 452 0 14 473 0 390 62 1637 A C RNA
chr1 145293411 G A synonymous_variant, intron_variant, intron_variant, intragenic_variant LOW, MODIFIER, MODIFIER, MODIFIER SILENT, -, -, - gtG/gtA, -, -, - V2, -, -, - 3626, 4963, 1110, - NBPF10, NBPF20, NBPF9, NBPF25P 20 18 180 0 20 18 0 144 36 1637 T G RNA
chr1 148592956 C T synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - gaC/gaT, - D552, - 670, - NBPF15, NBPF25P 24 11 104 0 24 11 0 79 25 1637 A G RNA
chr1 153749137 G A missense_variant MODERATE MISSENSE Gga/Aga G318R 730 SLC27A3 33 264 178 0 33 264 0 119 59 1637 A G RNA
chr1 153926061 G A synonymous_variant LOW SILENT ttC/ttT F152 693 CRTC2 30 57 89 0 30 57 0 62 27 1637 G A RNA
chr1 155233183 C T synonymous_variant LOW SILENT ctG/ctA L442 499 CLK2 24 81 349 0 25 81 0 262 87 1637 T A RNA
chr1 162336853 G A missense_variant MODERATE MISSENSE Gac/Aac D373N 506 NOS1AP 36 255 91 0 36 255 0 58 33 1637 G A RNA
chr1 182569573 C T missense_variant MODERATE MISSENSE Gct/Act A155T 202 RGS16 16 127 150 0 16 127 0 126 24 1637 G C RNA
chr1 184764528 C T synonymous_variant LOW SILENT gaG/gaA E790 928 FAM129A 23 339 136 0 24 339 0 104 32 1637 C T RNA
chr1 185267182 C T synonymous_variant LOW SILENT aaG/aaA K638 642 IVNS1ABP 29 424 341 0 29 424 0 240 100 1637 T T RNA
chr1 203150327 C T missense_variant MODERATE MISSENSE gGt/gAt G225D 383 CHI3L1 28 187 21317 0 28 187 0 15233 6073 1637 A C RNA
chr1 206632187 C T missense_variant MODERATE MISSENSE tCc/tTc S822F 984 SRGAP2 37 696 115 0 37 696 0 72 43 1637 T C RNA
chr1 206906037 C T synonymous_variant LOW SILENT Ctg/Ttg L393 400 MAPKAPK2 18 129 280 0 19 129 0 227 53 1637 C T RNA
chr1 211751862 C T synonymous_variant LOW SILENT gtG/gtA V31 507 SLC30A1 40 167 60 0 40 167 0 36 24 1637 T A RNA
chr1 227083132 G A missense_variant MODERATE MISSENSE tGt/tAt C400Y 448 PSEN2 40 361 151 0 40 361 0 90 61 1637 T T RNA
chr1 234510040 G A missense_variant MODERATE MISSENSE Gat/Aat D63N 125 COA6 20 113 210 0 20 113 0 167 43 1637 G A RNA
chr1 236157168 C T synonymous_variant LOW SILENT gtG/gtA V844 1247 NID1 23 251 94 0 23 251 0 72 22 1637 C A RNA
chr10 127530450 C T missense_variant, intron_variant MODERATE, MODIFIER MISSENSE, - Gat/Aat, - D469N, - 743, 322 DHX32, BCCIP 36 212 72 0 36 212 0 45 26 1637 T C RNA
chr11 373765 G A synonymous_variant LOW SILENT cgG/cgA R240 1039 B4GALNT4 21 233 208 0 21 233 0 164 44 1637 G A RNA
chr11 5274599 G A missense_variant MODERATE MISSENSE Cat/Tat H118Y 147 HBG2 28 187 132 0 29 187 0 94 38 1637 T G RNA
chr11 5275540 C T synonymous_variant LOW SILENT gtG/gtA V99 147 HBG2 23 139 112 1 23 138 1 86 26 1637 C A RNA
chr11 5275567 A G synonymous_variant LOW SILENT agT/agC S90 147 HBG2 20 168 134 0 21 168 0 106 28 1637 C C RNA
chr11 31671750 G A missense_variant MODERATE MISSENSE aGg/aAg R375K 535 ELP4 25 116 154 0 26 116 0 114 40 1637 A G RNA
chr11 46671829 C T synonymous_variant LOW SILENT ctC/ctT L140 550 ATG13 28 227 136 0 29 227 0 97 39 1637 T T RNA
chr11 46689343 C T missense_variant MODERATE MISSENSE tCa/tTa S386L 550 ATG13 32 207 110 0 33 207 0 74 36 1637 T A RNA
chr11 46817170 G A missense_variant MODERATE MISSENSE Cct/Tct P542S 2032 CKAP5 32 154 108 0 32 154 0 73 35 1637 G T RNA
chr11 57367415 G A missense_variant MODERATE MISSENSE Gac/Aac D39N 500 SERPING1 25 288 451 0 25 288 0 336 115 1637 A A RNA
chr11 58377790 G A synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - caG/caA, - Q200, - 570, - ZFP91, ZFP91-CNTF 36 114 125 0 36 114 0 79 45 1637 A T RNA
chr11 62388091 C T synonymous_variant LOW SILENT cgG/cgA R45 335 B3GAT3 36 72 327 0 37 72 0 207 120 1637 G C RNA
chr11 62600497 C T missense_variant MODERATE MISSENSE gGt/gAt G362D 385 WDR74 26 145 160 0 27 145 0 117 43 1637 A C RNA
chr11 64695794 C T missense_variant MODERATE MISSENSE Ccc/Tcc P207S 497 PPP2R5B 24 189 185 0 25 189 0 139 46 1637 T C RNA
chr11 64756769 C T synonymous_variant LOW SILENT ctG/ctA L219 274 BATF2 36 110 55 0 36 110 0 35 20 1637 C A RNA
chr11 64852607 G A synonymous_variant LOW SILENT ctG/ctA L41 310 ZFPL1 28 333 329 0 29 333 0 233 95 1637 T C RNA
chr11 65325325 C G missense_variant MODERATE MISSENSE Ggc/Cgc G36R 1303 LTBP3 11 58 168 0 12 56 0 146 20 1637 C C RNA
chr11 65380926 G A missense_variant MODERATE MISSENSE tCt/tTt S101F 847 MAP3K11 34 302 143 0 34 302 0 94 49 1637 A A RNA
chr11 66052240 C T synonymous_variant LOW SILENT cgG/cgA R250 293 YIF1A 25 105 841 0 26 105 0 624 217 1637 T C RNA
chr11 66204594 C T missense_variant MODERATE MISSENSE Ggc/Agc G152S 192 MRPL11 25 261 344 0 25 261 0 256 87 1637 C C RNA
chr11 67161237 C T missense_variant MODERATE MISSENSE cCc/cTc P142L 391 RAD9A 32 14 75 0 32 14 0 51 24 1637 C C RNA
chr11 75316999 G A synonymous_variant LOW SILENT agC/agT S390 813 MAP6 10 174 199 0 10 174 0 179 20 1637 G C RNA
chr11 77921281 G A missense_variant MODERATE MISSENSE Gtg/Atg V794M 1018 USP35 37 342 62 0 37 342 0 39 23 1637 G T RNA
chr11 108593801 G A missense_variant MODERATE MISSENSE aGg/aAg R526K 875 DDX10 39 233 51 0 39 232 0 31 20 1637 A G RNA
chr11 116636132 C T missense_variant MODERATE MISSENSE Gag/Aag E90K 619 BUD13 40 174 72 0 40 174 0 43 29 1637 T T RNA
chr11 118886638 G A synonymous_variant LOW SILENT Ctg/Ttg L99 125 RPS25 36 201 4473 0 37 201 0 2827 1644 1637 A T RNA
chr11 120329964 G A missense_variant MODERATE MISSENSE gGa/gAa G821E 1544 ARHGEF12 37 147 94 0 37 147 0 59 35 1637 G A RNA
chr11 124545219 T C missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - cTt/cCt, - L20P, - 151, - SPA17, SIAE 40 415 89 0 40 412 1 53 36 1637 C T RNA
chr11 126073443 C T missense_variant MODERATE MISSENSE gGg/gAg G335E 377 RPUSD4 31 284 82 0 32 284 0 56 26 1637 C C RNA
chr12 6639945 G A missense_variant MODERATE MISSENSE gGt/gAt G1309D 1401 NCAPD2 30 275 259 0 30 275 0 181 78 1637 G T RNA
chr12 7177320 G A missense_variant MODERATE MISSENSE Gag/Aag E478K 688 C1S 6 165 705 0 7 165 0 656 49 1637 G A RNA
chr12 7344171 G A missense_variant MODERATE MISSENSE gGt/gAt G129D 660 PEX5 32 92 96 0 32 92 0 65 31 1637 G T RNA
chr12 10374433 G A synonymous_variant LOW SILENT gaG/gaA E112 117 GABARAPL1 38 186 167 0 38 186 0 103 64 1637 A A RNA
chr12 27461352 C T synonymous_variant LOW SILENT gaC/gaT D89 464 STK38L 33 233 98 0 34 233 0 64 33 1637 A T RNA
chr12 39760244 G A missense_variant MODERATE MISSENSE Cat/Tat H271Y 1674 KIF21A 38 217 155 0 39 217 0 95 60 1637 T G RNA
chr12 51115150 G A missense_variant MODERATE MISSENSE gGa/gAa G1046E 1576 DIP2B 22 183 108 1 22 182 1 83 24 1637 G A RNA
chr12 54448007 G A missense_variant MODERATE MISSENSE Gcg/Acg A101T 264 HOXC4 37 147 58 0 38 147 0 36 22 1637 G C RNA
chr12 54645992 G A missense_variant MODERATE MISSENSE Cct/Tct P53S 191 CBX5 38 113 155 0 39 113 0 95 60 1637 G T RNA
chr12 56118166 G A missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - aGc/aAc, - S265N, - 318, - RDH5, BLOC1S1-RDH5 29 509 185 0 30 509 0 130 55 1637 A C RNA
chr12 56211890 C T 5_prime_UTR_premature_start_codon_gain_variant LOW - - - 153 ORMDL2 22 55 103 0 22 55 0 80 23 1637 G T RNA
chr12 57585118 G A missense_variant MODERATE MISSENSE Gag/Aag E2418K 4544 LRP1 37 115 326 0 37 115 0 205 121 1637 A A RNA
chr12 69233445 C T missense_variant MODERATE MISSENSE cCc/cTc P437L 497 MDM2 30 321 191 0 30 321 0 133 58 1637 C C RNA
chr12 96412606 G A missense_variant MODERATE MISSENSE Cca/Tca P263S 611 LTA4H 34 106 195 0 35 106 0 126 68 1637 G C RNA
chr12 110834099 C T missense_variant MODERATE MISSENSE gGa/gAa G121E 599 ANAPC7 28 342 110 0 28 342 0 79 31 1637 T C RNA
chr12 111803928 C T 5_prime_UTR_premature_start_codon_gain_variant LOW - - - 262 FAM109A 28 61 77 0 29 61 0 55 22 1637 A C RNA
chr12 113405245 G A synonymous_variant LOW SILENT agG/agA R904 1087 OAS3 36 193 289 0 36 193 0 184 105 1637 G C RNA
chr12 120580487 C T missense_variant MODERATE MISSENSE Gtg/Atg V1885M 2671 GCN1L1 22 119 122 0 22 119 0 95 27 1637 A C RNA
chr12 123467202 G A missense_variant MODERATE MISSENSE atG/atA M415I 421 ARL6IP4 37 89 968 0 37 89 0 606 362 1637 T C RNA
chr12 132212859 G A missense_variant MODERATE MISSENSE Gat/Aat D323N 1003 SFSWAP 28 235 165 0 28 235 0 118 47 1637 A A RNA
chr13 114290977 G A missense_variant MODERATE MISSENSE aGa/aAa R323K 410 TFDP1 26 122 242 0 27 120 0 177 65 1637 A A RNA
chr14 21957536 G A missense_variant MODERATE MISSENSE Gat/Aat D262N 621 TOX4 25 114 169 0 25 114 0 126 43 1637 G A RNA
chr14 23374423 G A synonymous_variant LOW SILENT aaC/aaT N202 439 RBM23 37 191 164 0 38 191 0 102 62 1637 A T RNA
chr14 36159099 G A missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Cct/Tct, - P840S, - 2083, - RALGAPA1, RALGAPA1P 39 37 64 0 39 37 0 39 25 1637 G C RNA
chr14 58678099 G A synonymous_variant LOW SILENT agG/agA R144 417 ACTR10 30 219 246 0 30 219 0 171 74 1637 G G RNA
chr14 60581787 G A missense_variant MODERATE MISSENSE gGt/gAt G88D 938 PCNXL4 39 300 69 0 39 300 0 42 27 1637 G T RNA
chr14 68052301 C T missense_variant MODERATE MISSENSE tCc/tTc S1239F 1364 PLEKHH1 38 58 70 0 39 58 0 43 27 1637 T C RNA
chr14 73750927 G A missense_variant MODERATE MISSENSE Ctt/Ttt L271F 651 NUMB 40 234 72 0 40 234 0 43 29 1637 A C RNA
chr14 74428195 G A missense_variant MODERATE MISSENSE Ggt/Agt G378S 468 COQ6 39 204 121 0 40 203 0 73 48 1637 G G RNA
chr14 77745131 C T missense_variant MODERATE MISSENSE gGc/gAc G658D 750 POMT2 34 107 179 0 34 107 0 118 61 1637 G C RNA
chr15 28447387 C T missense_variant MODERATE MISSENSE Gcc/Acc A2497T 4834 HERC2 38 94 63 0 38 94 0 39 24 1637 G T RNA
chr15 40268691 G A missense_variant MODERATE MISSENSE aGg/aAg R632K 1649 EIF2AK4 33 128 68 0 34 127 0 45 23 1637 A G RNA
chr15 40627713 C T synonymous_variant LOW SILENT ttG/ttA L417 534 C15orf52 24 96 83 0 24 96 0 63 20 1637 C A RNA
chr15 43482343 C T missense_variant MODERATE MISSENSE aCt/aTt T141I 360 CCNDBP1 38 88 100 0 38 88 0 62 38 1637 A T RNA
chr15 43816187 C T missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - tCt/tTt, - S839F, - 2803, - MAP1A, RNU6-28P 21 278 100 0 21 278 0 79 21 1637 T T RNA
chr15 48717616 C T missense_variant MODERATE MISSENSE tGt/tAt C2468Y 2871 FBN1 27 180 84 0 27 180 0 61 23 1637 A A RNA
chr15 58933136 C A missense_variant MODERATE MISSENSE aaG/aaT K284N 748 ADAM10 40 144 82 0 40 144 0 49 33 1637 C T RNA
chr16 227308 C T synonymous_variant LOW SILENT acC/acT T109 142 HBA1 14 130 140 0 14 130 0 120 20 1637 C C RNA
chr16 227317 C T synonymous_variant LOW SILENT gcC/gcT A112 142 HBA1 14 128 189 0 14 128 0 162 27 1637 C C RNA
chr16 1823013 C T synonymous_variant LOW SILENT gtG/gtA V36 225 MRPS34 28 76 288 0 28 76 0 206 82 1637 C A RNA
chr16 2104422 C T synonymous_variant LOW SILENT acC/acT T154 1807 TSC2 35 171 68 0 35 171 0 44 24 1637 C T RNA
chr16 4431072 C T missense_variant, intron_variant, intron_variant MODERATE, MODIFIER, MODIFIER MISSENSE, -, - aCc/aTc, -, - T65I, -, - 673, 1048, 925 VASN, CORO7-PAM16, CORO7 30 261 78 0 31 261 0 54 24 1637 A C RNA
chr16 14758810 G A missense_variant MODERATE MISSENSE Gct/Act A348T 450 BFAR 26 114 90 0 27 114 0 66 24 1637 T C RNA
chr16 19539285 G A missense_variant MODERATE MISSENSE Gct/Act A28T 1012 CCP110 35 306 74 0 35 306 0 48 26 1637 T C RNA
chr16 24552103 G A synonymous_variant LOW SILENT caG/caA Q52 1792 RBBP6 30 146 85 0 31 146 0 58 26 1637 A A RNA
chr16 28970381 G A missense_variant MODERATE MISSENSE gGa/gAa G354E 419 NFATC2IP 38 81 159 0 39 81 0 97 62 1637 G A RNA
chr16 29851646 G A missense_variant MODERATE MISSENSE Gct/Act A353T 893 MVP 18 114 253 0 19 114 0 205 48 1637 G C RNA
chr16 30731614 C T synonymous_variant LOW SILENT ccC/ccT P983 3230 SRCAP 34 63 98 0 35 63 0 64 34 1637 C C RNA
chr16 46711253 C T missense_variant MODERATE MISSENSE Gaa/Aaa E260K 796 VPS35 35 251 310 0 35 251 0 201 109 1637 T T RNA
chr16 46723663 G A missense_variant MODERATE MISSENSE Gcc/Acc A16T 252 ORC6 39 126 58 0 40 126 0 35 23 1637 C C RNA
chr16 53357972 G A missense_variant MODERATE MISSENSE gGt/gAt G2604D 2881 CHD9 39 148 114 0 39 148 0 69 45 1637 G T RNA
chr16 56536653 C T missense_variant MODERATE MISSENSE gGt/gAt G291D 721 BBS2 31 330 358 0 32 330 0 244 114 1637 A C RNA
chr16 57059761 C T synonymous_variant LOW SILENT gtC/gtT V302 1866 NLRC5 32 428 92 0 33 428 0 62 30 1637 T C RNA
chr16 67199954 C T missense_variant MODERATE MISSENSE Cgg/Tgg R156W 492 HSF4 29 15 98 0 30 12 0 69 29 1637 G G RNA
chr16 67968773 C T missense_variant MODERATE MISSENSE Gac/Aac D213N 273 PSMB10 24 144 606 0 25 144 0 453 151 1637 T C RNA
chr16 67980230 G A synonymous_variant LOW SILENT tgC/tgT C819 1087 SLC12A4 40 142 529 0 40 142 0 315 214 1637 T C RNA
chr16 69358192 G A missense_variant MODERATE MISSENSE Gac/Aac D432N 437 VPS4A 37 166 387 0 38 166 0 240 147 1637 G A RNA
chr16 69364176 C T missense_variant, intron_variant MODERATE, MODIFIER MISSENSE, - Gtc/Atc, - V100I, - 243, 612 PDF, COG8 38 28 81 0 38 28 0 50 31 1637 A C RNA
chr16 70367479 C T synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - gcC/gcT, - A478, - 479, - DDX19B, LOC100506083 27 70 174 0 28 70 0 126 48 1637 C A RNA
chr16 81078415 G A missense_variant MODERATE MISSENSE gGg/gAg G771E 823 ATMIN 36 197 114 0 37 197 0 72 42 1637 G G RNA
chr16 81736240 G A missense_variant MODERATE MISSENSE gGg/gAg G637E 773 CMIP 37 259 170 0 38 259 0 106 64 1637 G G RNA
chr16 84094401 C T missense_variant MODERATE MISSENSE Gat/Aat D864N 1052 MBTPS1 28 55 314 0 29 55 0 224 90 1637 T C RNA
chr16 87446082 G A missense_variant MODERATE MISSENSE Ccg/Tcg P612S 949 ZCCHC14 37 232 66 0 38 232 0 41 25 1637 G T RNA
chr16 87745003 G A synonymous_variant LOW SILENT acC/acT T294 520 KLHDC4 28 140 78 0 28 140 0 56 22 1637 G G RNA
chr16 88695169 G A missense_variant MODERATE MISSENSE Gct/Act A849T 977 ZC3H18 34 174 144 0 35 174 0 94 50 1637 G C RNA
chr16 89628094 G A missense_variant MODERATE MISSENSE Gag/Aag E119K 211 RPL13 34 60 10463 0 34 60 0 6857 3606 1637 G A RNA
chr16 89836286 G A synonymous_variant LOW SILENT ctC/ctT L821 1455 FANCA 35 128 57 0 35 128 0 37 20 1637 G A RNA
chr17 4576689 G A synonymous_variant LOW SILENT agC/agT S617 1180 PELP1 35 100 360 0 35 100 0 233 127 1637 A C RNA
chr17 4721876 C T synonymous_variant LOW SILENT atC/atT I699 933 PLD2 38 385 242 0 38 385 0 149 93 1637 T C RNA
chr17 4793979 C T synonymous_variant LOW SILENT taC/taT Y505 1332 MINK1 18 58 237 0 19 58 0 193 44 1637 A C RNA
chr17 4841366 G A synonymous_variant LOW SILENT atC/atT I247 314 SLC25A11 31 322 461 0 31 322 0 316 145 1637 G A RNA
chr17 7128390 G A missense_variant MODERATE MISSENSE Gtc/Atc V671I 678 ACADVL 33 211 1301 0 34 211 0 860 441 1637 G T RNA
chr17 7474746 C T missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - cCc/cTc, - P557L, - 574, - SENP3, SENP3-EIF4A1 31 138 382 0 31 138 0 262 120 1637 C C RNA
chr17 7492551 C T stop_gained HIGH NONSENSE tgG/tgA W148* 233 SOX15 30 99 310 0 30 99 0 217 93 1637 C C RNA
chr17 16005057 G A missense_variant MODERATE MISSENSE Ccc/Tcc P733S 2440 NCOR1 34 222 182 0 34 222 0 120 62 1637 G C RNA
chr17 17701154 C T missense_variant MODERATE MISSENSE gCc/gTc A1631V 1906 RAI1 32 863 74 0 32 862 0 50 24 1637 G C RNA
chr17 19835218 C T missense_variant MODERATE MISSENSE gGa/gAa G514E 662 AKAP10 38 106 60 0 38 106 0 37 23 1637 T C RNA
chr17 25938643 G A synonymous_variant LOW SILENT ggG/ggA G712 762 KSR1 36 118 58 0 36 118 0 37 21 1637 G A RNA
chr17 27016433 G A missense_variant MODERATE MISSENSE Gct/Act A1066T 1726 SUPT6H 24 150 197 0 25 150 0 148 49 1637 G C RNA
chr17 27423825 C T missense_variant MODERATE MISSENSE Gag/Aag E1447K 2054 MYO18A 23 87 134 0 23 87 0 103 31 1637 T C RNA
chr17 27896059 G A synonymous_variant LOW SILENT gaG/gaA E32 393 TP53I13 36 111 442 0 36 111 0 281 160 1637 A G RNA
chr17 33428270 C T missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Gga/Aga, - G305R, - 348, - RAD51D, RAD51L3-RFFL 35 151 80 0 35 150 0 52 28 1637 C T RNA
chr17 36872725 C T missense_variant MODERATE MISSENSE cCt/cTt P381L 1093 MLLT6 22 124 166 0 22 124 0 128 37 1637 C T RNA
chr17 36876142 G A missense_variant MODERATE MISSENSE Gtc/Atc V717I 1093 MLLT6 37 70 205 0 37 70 0 129 76 1637 C T RNA
chr17 36876936 C T missense_variant MODERATE MISSENSE aCc/aTc T793I 1093 MLLT6 33 205 133 0 34 205 0 88 45 1637 A C RNA
chr17 38975239 T G synonymous_variant LOW SILENT ggA/ggC G516 584 KRT10 10 35 259 0 11 35 0 231 28 1637 T C RNA
chr17 40257131 C T missense_variant MODERATE MISSENSE Gtg/Atg V436M 678 DHX58 37 215 161 0 37 215 0 101 60 1637 A C RNA
chr17 40717753 G A missense_variant MODERATE MISSENSE gGg/gAg G550E 593 COASY 31 162 261 0 31 162 0 180 81 1637 G G RNA
chr17 40815482 C T synonymous_variant LOW SILENT ctC/ctT L189 451 TUBG2 22 499 568 0 22 499 0 443 125 1637 T C RNA
chr17 40931066 C T synonymous_variant LOW SILENT ggC/ggT G170 176 VPS25 38 177 260 0 38 177 0 160 100 1637 G C RNA
chr17 41477188 G A missense_variant MODERATE MISSENSE Gac/Aac D30N 201 ARL4D 39 482 79 0 39 482 0 48 31 1637 G A RNA
chr17 42157827 C T missense_variant MODERATE MISSENSE Gca/Aca A924T 1123 HDAC5 25 392 203 0 25 392 0 152 51 1637 G C RNA
chr17 42398503 G A missense_variant MODERATE MISSENSE aCt/aTt T205I 359 SLC25A39 35 86 287 0 35 84 0 186 101 1637 A T RNA
chr17 44108880 C T missense_variant MODERATE MISSENSE Gtg/Atg V1094M 1105 KANSL1 24 149 90 0 24 149 0 68 22 1637 A C RNA
chr17 44414801 C T missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Ctt/Ttt, - L1641F, - 1700, - LRRC37A, ARL17B 32 47 62 0 32 47 0 42 20 1637 A T RNA
chr17 45915946 G A missense_variant MODERATE MISSENSE Ccc/Tcc P297S 425 SCRN2 38 155 281 0 39 155 0 172 109 1637 G A RNA
chr17 48263226 G T synonymous_variant LOW SILENT gcC/gcA A1387 1464 COL1A1 12 192 407 0 13 192 0 356 51 1637 G G RNA
chr17 48263366 G C missense_variant MODERATE MISSENSE Cag/Gag Q1341E 1464 COL1A1 13 72 445 0 13 72 0 386 58 1637 T G RNA
chr17 48263687 A G synonymous_variant LOW SILENT gaT/gaC D1332 1464 COL1A1 11 229 473 0 12 229 0 417 56 1637 C T RNA
chr17 48263714 A G synonymous_variant LOW SILENT caT/caC H1323 1464 COL1A1 9 275 451 0 9 275 0 408 42 1637 C T RNA
chr17 48264035 A G synonymous_variant LOW SILENT cgT/cgC R1260 1464 COL1A1 7 191 374 0 7 191 0 347 27 1637 C C RNA
chr17 48264071 T G synonymous_variant LOW SILENT ccA/ccC P1248 1464 COL1A1 9 214 370 0 9 213 0 335 34 1637 C G RNA
chr17 48264179 A G synonymous_variant LOW SILENT ggT/ggC G1212 1464 COL1A1 7 385 315 0 8 385 0 290 25 1637 C C RNA
chr17 48264234 G C missense_variant MODERATE MISSENSE gCt/gGt A1194G 1464 COL1A1 10 279 320 0 10 279 0 287 33 1637 A C RNA
chr17 48264257 A G synonymous_variant LOW SILENT ccT/ccC P1186 1464 COL1A1 9 275 345 0 10 275 0 312 33 1637 C G RNA
chr17 48264436 A G synonymous_variant LOW SILENT ggT/ggC G1157 1464 COL1A1 7 108 363 0 8 108 0 334 29 1637 G C RNA
chr17 48265300 C T synonymous_variant LOW SILENT caG/caA Q1102 1464 COL1A1 12 170 322 0 13 170 0 281 41 1637 C T RNA
chr17 48265502 A G synonymous_variant LOW SILENT gcT/gcC A1072 1464 COL1A1 14 63 390 0 14 63 0 334 56 1637 C G RNA
chr17 48265966 G A synonymous_variant LOW SILENT ccC/ccT P1044 1464 COL1A1 12 300 388 0 13 299 0 339 49 1637 G G RNA
chr17 48265981 G A synonymous_variant LOW SILENT acC/acT T1039 1464 COL1A1 11 308 393 0 12 308 0 347 46 1637 C G RNA
chr17 48266108 C G missense_variant MODERATE MISSENSE Gcc/Ccc A1032P 1464 COL1A1 11 316 342 0 12 315 0 302 40 1637 G G RNA
chr17 48266291 A G synonymous_variant LOW SILENT gcT/gcC A1006 1464 COL1A1 12 257 469 0 12 257 0 407 58 1637 C G RNA
chr17 48266559 C T synonymous_variant LOW SILENT gaG/gaA E969 1464 COL1A1 12 224 490 0 12 224 0 428 61 1637 T T RNA
chr17 48266589 A G synonymous_variant LOW SILENT ggT/ggC G959 1464 COL1A1 13 222 450 0 14 222 0 388 61 1637 C C RNA
chr17 48266628 A G synonymous_variant LOW SILENT ccT/ccC P946 1464 COL1A1 7 223 423 0 7 223 0 392 30 1637 C G RNA
chr17 48266744 A C synonymous_variant LOW SILENT ggT/ggG G941 1464 COL1A1 10 268 406 0 11 268 0 361 44 1637 G C RNA
chr17 48266777 A G synonymous_variant LOW SILENT ccT/ccC P930 1464 COL1A1 13 279 372 0 14 279 0 321 51 1637 C G RNA
chr17 48267252 C G missense_variant MODERATE MISSENSE Gcc/Ccc A861P 1464 COL1A1 8 143 388 0 9 143 0 354 34 1637 G T RNA
chr17 48267452 A G synonymous_variant LOW SILENT ccT/ccC P823 1464 COL1A1 9 250 388 0 9 250 0 352 36 1637 C G RNA
chr17 48267700 A G synonymous_variant LOW SILENT ttT/ttC F813 1464 COL1A1 9 160 384 0 10 160 0 346 38 1637 C A RNA
chr17 48267950 C G missense_variant MODERATE MISSENSE aGt/aCt S784T 1464 COL1A1 12 105 384 0 13 105 0 335 49 1637 A T RNA
chr17 48268202 G A synonymous_variant LOW SILENT ggC/ggT G773 1464 COL1A1 11 149 354 0 12 149 0 311 42 1637 G C RNA
chr17 48269863 T G synonymous_variant LOW SILENT ccA/ccC P652 1464 COL1A1 14 96 220 0 14 96 0 188 31 1637 C G RNA
chr17 48269875 A G synonymous_variant LOW SILENT ccT/ccC P648 1464 COL1A1 13 107 225 0 13 107 0 195 30 1637 C G RNA
chr17 48270007 T G synonymous_variant LOW SILENT ggA/ggC G641 1464 COL1A1 16 322 233 0 17 321 0 194 39 1637 A C RNA
chr17 48271361 T G synonymous_variant LOW SILENT ccA/ccC P570 1464 COL1A1 14 260 295 0 14 260 0 252 42 1637 G G RNA
chr17 48273006 C A synonymous_variant LOW SILENT ggG/ggT G359 1464 COL1A1 11 173 223 0 11 173 0 197 25 1637 G C RNA
chr17 48273329 G A synonymous_variant LOW SILENT acC/acT T337 1464 COL1A1 14 102 249 0 14 102 0 213 36 1637 C G RNA
chr17 48273522 C T synonymous_variant LOW SILENT ggG/ggA G332 1464 COL1A1 11 295 251 0 12 295 0 222 29 1637 G C RNA
chr17 48273552 A G synonymous_variant LOW SILENT cgT/cgC R322 1464 COL1A1 13 299 277 0 13 299 0 240 37 1637 C C RNA
chr17 48273717 G A synonymous_variant LOW SILENT ggC/ggT G305 1464 COL1A1 16 257 250 0 16 257 0 210 40 1637 G C RNA
chr17 48275552 A G synonymous_variant LOW SILENT ccT/ccC P186 1464 COL1A1 12 172 165 0 13 172 0 144 21 1637 G G RNA
chr17 48275860 A G synonymous_variant LOW SILENT ttT/ttC F159 1464 COL1A1 13 76 161 0 13 76 0 140 21 1637 C A RNA
chr17 48627432 C T synonymous_variant LOW SILENT Ctg/Ttg L317 802 SPATA20 30 152 326 0 30 152 0 227 99 1637 C T RNA
chr17 48692791 G A missense_variant MODERATE MISSENSE aGc/aAc S1610N 2377 CACNA1G 29 276 67 0 30 276 0 47 20 1637 A C RNA
chr17 64728923 G A missense_variant MODERATE MISSENSE Gga/Aga G346R 672 PRKCA 34 118 70 0 34 118 0 46 24 1637 G G RNA
chr17 71201816 C T missense_variant MODERATE MISSENSE tCc/tTc S836F 980 COG1 23 42 304 0 23 42 0 233 71 1637 T C RNA
chr17 73845763 G A missense_variant MODERATE MISSENSE Ctc/Ttc L76F 261 WBP2 22 56 906 0 23 56 0 702 204 1637 A A RNA
chr17 74388057 G A synonymous_variant LOW SILENT cgC/cgT R1028 1292 UBE2O 22 142 112 0 22 142 0 87 25 1637 G C RNA
chr17 77808136 G A synonymous_variant LOW SILENT acC/acT T435 560 CBX4 39 77 119 0 39 77 0 72 47 1637 G G RNA
chr17 79060371 G A synonymous_variant LOW SILENT aaG/aaA K160 552 BAIAP2 29 34 172 0 29 34 0 122 50 1637 A G RNA
chr17 79667614 C T missense_variant MODERATE MISSENSE cCc/cTc P667L 777 HGS 18 175 375 0 18 175 0 307 68 1637 C C RNA
chr17 79892222 C T synonymous_variant LOW SILENT gaG/gaA E286 346 PYCR1 29 127 287 0 30 127 0 202 85 1637 C T RNA
chr18 48447064 C T missense_variant MODERATE MISSENSE gCa/gTa A293V 584 ME2 33 40 138 0 33 40 0 92 46 1637 G A RNA
chr19 436651 G A synonymous_variant LOW SILENT tcC/tcT S251 582 SHC2 12 135 414 0 12 135 0 363 51 1637 A G RNA
chr19 1440110 G A missense_variant MODERATE MISSENSE cGc/cAc R61H 145 RPS15 28 33 10527 0 28 33 0 7530 2992 1637 C C RNA
chr19 1440161 C T missense_variant MODERATE MISSENSE aCg/aTg T78M 145 RPS15 18 51 12778 0 18 51 0 10440 2336 1637 A G RNA
chr19 1986585 C T missense_variant MODERATE MISSENSE Ggc/Agc G494S 525 BTBD2 20 120 881 0 21 120 0 699 182 1637 C C RNA
chr19 2226878 G A missense_variant MODERATE MISSENSE gGc/gAc G1453D 1537 DOT1L 31 160 173 0 32 160 0 118 55 1637 G C RNA
chr19 4365489 C T synonymous_variant LOW SILENT gaG/gaA E107 368 SH3GL1 13 42 707 0 14 42 0 608 98 1637 A T RNA
chr19 4446575 G A missense_variant MODERATE MISSENSE cCc/cTc P281L 441 UBXN6 19 242 1005 0 20 242 0 807 198 1637 G G RNA
chr19 5222784 C T missense_variant MODERATE MISSENSE Gac/Aac D1007N 1948 PTPRS 15 95 155 0 15 95 0 131 24 1637 T A RNA
chr19 6213141 G A missense_variant MODERATE MISSENSE aCc/aTc T531I 559 MLLT1 32 174 558 0 32 174 0 378 180 1637 G T RNA
chr19 6213797 C T synonymous_variant LOW SILENT cgG/cgA R473 559 MLLT1 22 190 236 0 22 190 0 183 52 1637 T C RNA
chr19 6227032 C T missense_variant MODERATE MISSENSE Gcc/Acc A168T 559 MLLT1 17 130 315 0 17 130 0 261 54 1637 G A RNA
chr19 6230643 C T missense_variant MODERATE MISSENSE Gag/Aag E120K 559 MLLT1 33 87 556 0 34 87 0 367 189 1637 T G RNA
chr19 6415241 C T missense_variant MODERATE MISSENSE Gaa/Aaa E680K 711 KHSRP 18 142 1004 0 18 141 0 819 185 1637 T C RNA
chr19 6416766 C T missense_variant MODERATE MISSENSE gGg/gAg G437E 711 KHSRP 29 131 543 0 29 131 0 384 159 1637 C C RNA
chr19 7619943 C T synonymous_variant LOW SILENT cgC/cgT R943 1375 PNPLA6 29 56 239 0 29 56 0 169 70 1637 G C RNA
chr19 8577944 G A synonymous_variant LOW SILENT gaC/gaT D95 390 ZNF414 34 59 235 0 35 59 0 153 82 1637 G T RNA
chr19 10071155 C T missense_variant MODERATE MISSENSE Gcc/Acc A1724T 1745 COL5A3 17 232 240 0 18 232 0 198 42 1637 G C RNA
chr19 10106926 C T missense_variant MODERATE MISSENSE Ggc/Agc G479S 1745 COL5A3 34 187 64 0 34 187 0 42 22 1637 C T RNA
chr19 10441141 C T missense_variant MODERATE MISSENSE gGg/gAg G111E 756 RAVER1 26 56 362 0 27 56 0 265 97 1637 C C RNA
chr19 10475541 C T missense_variant MODERATE MISSENSE Gac/Aac D399N 1187 TYK2 16 234 335 0 16 234 0 281 54 1637 T C RNA
chr19 10655641 C G missense_variant MODERATE MISSENSE Cag/Gag Q110E 474 ATG4D 26 228 97 0 27 228 0 71 26 1637 A A RNA
chr19 10822917 G A missense_variant MODERATE MISSENSE Gtg/Atg V243M 403 QTRT1 31 97 895 0 32 97 0 612 283 1637 G T RNA
chr19 10823496 G T missense_variant MODERATE MISSENSE aaG/aaT K308N 403 QTRT1 31 117 1293 0 32 117 0 880 413 1637 A G RNA
chr19 10946790 G A synonymous_variant LOW SILENT ccC/ccT P26 227 TMED1 32 69 156 0 33 69 0 105 51 1637 G G RNA
chr19 11152143 G A missense_variant MODERATE MISSENSE gGg/gAg G1476E 1679 SMARCA4 34 193 597 0 35 193 0 390 207 1637 G G RNA
chr19 12779421 C T missense_variant MODERATE MISSENSE tGt/tAt C56Y 106 WDR83OS 17 114 1887 0 18 114 0 1550 337 1637 A A RNA
chr19 12876754 C T missense_variant MODERATE MISSENSE gGc/gAc G529D 719 HOOK2 13 113 191 0 13 113 0 166 25 1637 G C RNA
chr19 14065212 C T missense_variant MODERATE MISSENSE Ctc/Ttc L65F 600 DCAF15 15 103 162 0 15 103 0 137 25 1637 C T RNA
chr19 14569124 C T synonymous_variant LOW SILENT ttC/ttT F458 948 PKN1 17 90 567 0 17 90 0 469 98 1637 T T RNA
chr19 15219972 G A missense_variant MODERATE MISSENSE aGg/aAg R65K 735 SYDE1 12 77 216 0 13 77 0 188 28 1637 A G RNA
chr19 15220957 C T synonymous_variant LOW SILENT tgC/tgT C291 735 SYDE1 15 77 153 0 16 77 0 129 24 1637 G C RNA
chr19 15228746 C T missense_variant MODERATE MISSENSE Gaa/Aaa E378K 632 ILVBL 13 143 331 0 14 143 0 286 45 1637 T C RNA
chr19 15230099 G A missense_variant MODERATE MISSENSE aCc/aTc T310I 632 ILVBL 27 185 294 0 28 185 0 213 81 1637 G T RNA
chr19 15472595 C T synonymous_variant LOW SILENT cgG/cgA R447 692 AKAP8 15 223 172 0 15 223 0 145 26 1637 G C RNA
chr19 17438681 G A synonymous_variant LOW SILENT ttC/ttT F745 1232 ANO8 17 265 370 0 18 264 0 303 66 1637 G A RNA
chr19 18468355 G A missense_variant MODERATE MISSENSE Gat/Aat D123N 209 PGPEP1 28 199 188 0 29 199 0 134 54 1637 G A RNA
chr19 18545043 C T missense_variant MODERATE MISSENSE aCc/aTc T382I 385 SSBP4 30 181 623 0 30 181 0 433 190 1637 A C RNA
chr19 18870884 G A synonymous_variant LOW SILENT ggG/ggA G260 650 CRTC1 28 123 267 0 29 123 0 189 77 1637 G T RNA
chr19 19232623 C T missense_variant MODERATE MISSENSE Gcc/Acc A201T 479 TMEM161A 35 89 233 0 35 89 0 151 82 1637 G C RNA
chr19 19304886 C T missense_variant MODERATE MISSENSE cCc/cTc P44L 260 RFXANK 18 141 539 0 18 141 0 440 99 1637 C C RNA
chr19 19349139 G A missense_variant MODERATE MISSENSE Gaa/Aaa E1110K 1321 NCAN 26 139 285 0 26 139 0 210 75 1637 G A RNA
chr19 19458134 G A missense_variant MODERATE MISSENSE Gcg/Acg A423T 613 MAU2 24 209 156 0 24 209 0 118 38 1637 G C RNA
chr19 19758418 G A missense_variant MODERATE MISSENSE aCc/aTc T928I 1204 ATP13A1 28 81 376 0 29 81 0 267 109 1637 G T RNA
chr19 35500143 G A synonymous_variant LOW SILENT aaG/aaA K43 724 GRAMD1A 19 157 167 0 19 157 0 135 32 1637 A G RNA
chr19 36243873 C T synonymous_variant LOW SILENT Ctg/Ttg L84 246 LIN37 26 174 136 0 26 174 0 99 36 1637 G T RNA
chr19 36362579 G A synonymous_variant LOW SILENT cgG/cgA R201 651 APLP1 6 114 763 0 6 114 0 714 49 1637 G T RNA
chr19 39964088 C T missense_variant MODERATE MISSENSE Ccc/Tcc P807S 1087 SUPT5H 28 375 453 0 28 375 0 326 127 1637 G C RNA
chr19 40486621 G A synonymous_variant LOW SILENT caG/caA Q380 418 PSMC4 38 128 727 0 38 128 0 448 279 1637 A G RNA
chr19 40832344 C T synonymous_variant LOW SILENT cgG/cgA R200 422 C19orf47 31 138 66 0 32 138 0 45 21 1637 G C RNA
chr19 41179468 C T missense_variant MODERATE MISSENSE Gag/Aag E273K 609 NUMBL 25 44 256 0 26 44 0 190 66 1637 T A RNA
chr19 45490630 C T synonymous_variant LOW SILENT ttC/ttT F329 669 CLPTM1 12 215 499 0 13 215 0 435 64 1637 T C RNA
chr19 47280570 G A missense_variant MODERATE MISSENSE aCc/aTc T384I 541 SLC1A5 21 107 99 0 21 107 0 78 21 1637 G T RNA
chr19 47423967 G A missense_variant MODERATE MISSENSE Gag/Aag E679K 1499 ARHGAP35 39 171 53 0 40 171 0 32 21 1637 A A RNA
chr19 47425496 G A synonymous_variant LOW SILENT aaG/aaA K1188 1499 ARHGAP35 35 170 149 0 36 170 0 95 53 1637 A A RNA
chr19 47706943 G A synonymous_variant LOW SILENT gaG/gaA E298 346 SAE1 24 146 262 0 24 146 0 199 63 1637 A A RNA
chr19 51022295 C T synonymous_variant LOW SILENT ctG/ctA L225 713 LRRC4B 27 122 313 0 27 122 0 227 86 1637 T A RNA
chr19 55752705 G A missense_variant MODERATE MISSENSE Cgg/Tgg R355W 881 PPP6R1 32 127 153 0 33 127 0 103 50 1637 C C RNA
chr19 58232293 G A synonymous_variant LOW SILENT caC/caT H387 534 ZNF671 38 159 70 0 39 159 0 43 27 1637 G T RNA
chr2 10580969 G A missense_variant MODERATE MISSENSE Ccc/Tcc P423S 461 ODC1 5 144 675 0 6 144 0 636 39 1637 G G RNA
chr2 27258055 C T missense_variant MODERATE MISSENSE tCt/tTt S135F 689 TMEM214 26 135 162 0 27 135 0 119 43 1637 T T RNA
chr2 27427431 C T synonymous_variant LOW SILENT caG/caA Q301 635 SLC5A6 26 88 115 0 27 88 0 83 31 1637 G T RNA
chr2 27605365 C T missense_variant MODERATE MISSENSE Gtc/Atc V437I 546 PPM1G 32 56 416 0 33 56 0 280 136 1637 A C RNA
chr2 27609972 G A synonymous_variant LOW SILENT gtC/gtT V58 546 PPM1G 20 132 210 0 20 132 0 168 42 1637 A A RNA
chr2 33540254 G A synonymous_variant LOW SILENT ggG/ggA G1216 1721 LTBP1 38 105 324 0 38 105 0 200 124 1637 G G RNA
chr2 46803367 C T missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Ccc/Tcc, - P115S, - 205, - RHOQ, LOC100506142 25 159 214 0 26 159 0 159 55 1637 A C RNA
chr2 68388828 C T missense_variant MODERATE MISSENSE aCc/aTc T124I 252 PNO1 29 281 116 0 29 281 0 82 34 1637 A C RNA
chr2 70922903 G A synonymous_variant LOW SILENT Ctg/Ttg L169 726 ADD2 37 113 53 0 38 113 0 33 20 1637 A G RNA
chr2 71635362 G A synonymous_variant LOW SILENT aaG/aaA K1082 1978 ZNF638 37 211 90 0 38 211 0 56 34 1637 A A RNA
chr2 73316121 G A synonymous_variant LOW SILENT Ctg/Ttg L252 653 RAB11FIP5 38 111 60 0 38 110 0 37 23 1637 A C RNA
chr2 73959307 G A missense_variant MODERATE MISSENSE Ctt/Ttt L83F 175 TPRKB 31 79 179 0 32 79 0 122 57 1637 A G RNA
chr2 74596583 C T synonymous_variant LOW SILENT gaG/gaA E476 1278 DCTN1 34 532 388 0 35 532 0 253 135 1637 T T RNA
chr2 74597597 C T missense_variant MODERATE MISSENSE Gtg/Atg V375M 1278 DCTN1 24 201 297 0 24 201 0 225 72 1637 A C RNA
chr2 74708589 G A synonymous_variant LOW SILENT agC/agT S366 743 CCDC142 36 129 57 0 37 129 0 36 21 1637 A C RNA
chr2 97217731 G A missense_variant MODERATE MISSENSE gGc/gAc G489D 594 ARID5A 26 156 231 0 27 156 0 169 62 1637 G C RNA
chr2 106498387 G A missense_variant MODERATE MISSENSE aGc/aAc S277N 380 NCK2 19 124 219 0 20 124 0 176 43 1637 A C RNA
chr2 121050771 G A missense_variant MODERATE MISSENSE Gac/Aac D186N 206 RALB 31 100 230 0 32 100 0 157 73 1637 A A RNA
chr2 145147480 G A synonymous_variant LOW SILENT ggC/ggT G1061 1214 ZEB2 24 388 125 0 24 388 0 95 30 1637 T C RNA
chr2 153463907 G A missense_variant MODERATE MISSENSE Gac/Aac D311N 1092 FMNL2 28 130 268 0 28 130 0 192 76 1637 A A RNA
chr2 170665377 G A missense_variant MODERATE MISSENSE Gaa/Aaa E212K 408 SSB 18 53 374 0 19 53 0 303 71 1637 A A RNA
chr2 173356230 G A synonymous_variant LOW SILENT agG/agA R989 1091 ITGA6 35 146 94 0 35 146 0 61 33 1637 G C RNA
chr2 175440043 C T missense_variant MODERATE MISSENSE Gga/Aga G83R 503 WIPF1 35 156 67 0 36 156 0 43 24 1637 C T RNA
chr2 191865853 C T missense_variant MODERATE MISSENSE Gac/Aac D137N 750 STAT1 36 207 644 0 36 206 0 411 233 1637 T T RNA
chr2 207017166 C T missense_variant MODERATE MISSENSE Gaa/Aaa E58K 741 NDUFS1 32 353 103 0 32 353 0 70 33 1637 T C RNA
chr2 220097384 C T synonymous_variant LOW SILENT cgC/cgT R179 726 ANKZF1 26 71 134 0 27 71 0 98 36 1637 G T RNA
chr2 220111558 G A missense_variant MODERATE MISSENSE gGt/gAt G89D 305 STK16 30 136 159 0 31 136 0 110 49 1637 G T RNA
chr2 232030617 G A synonymous_variant LOW SILENT aaG/aaA K867 953 PSMD1 25 104 575 0 25 104 0 428 144 1637 A A RNA
chr20 307112 C T missense_variant MODERATE MISSENSE Ccg/Tcg P182S 315 SOX12 30 48 272 0 30 48 0 190 82 1637 C C RNA
chr20 485855 C T synonymous_variant LOW SILENT caG/caA Q40 391 CSNK2A1 32 322 186 0 32 322 0 126 60 1637 G T RNA