Chromosome | Start | End | Ref | Alt | rsID | SNVfilter Prediction | Damaging Probability | 1000Genome Frequency | SIFT Prediction | Polyphen HDIV Prediction | Polyphen HVAR Prediction | FATHMM Prediction | Function | Gene Symbol | Transcript ID | Exon Number | mRNA Pos | Codon Num | Residue Change | OMIM | MGI | Cell Lines | Tissue |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1 | 1017170 | 1017170 | C | G | rs3766193 | N | 2.00732529265e-07 | 0.575479 | downstream | C1orf159 | HEK-293 | testis | |||||||||||
chr1 | 1103690 | 1103704 | TCCCCCACCCAACCT | TCACCCCCACCCAACCT | N | 0.00434041535482 | upstream,downstream | MIR429;MIR200A | |||||||||||||||
chr1 | 11072579 | 11072579 | T | C | rs968545 | N | 0.0391050130129 | 0.970048 | upstream | TARDBP | FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED | TAR DNA binding protein | HeLa | lymph node | |||||||||
chr1 | 11086097 | 11086099 | ATG | ATTG | N | 0.393596440554 | downstream | MASP2 TARDBP | |||||||||||||||
chr1 | 11107439 | 11107439 | G | T | rs7548659 | N | 4.87445986352e-11 | 0.574281 | upstream | MASP2 | MASP2 DEFICIENCY | mannan-binding lectin serine peptidase 2 | Hep-G2 | liver | |||||||||
chr1 | 11126569 | 11126569 | C | A | rs2791659 | N | 8.98268410765e-08 | 0.60603 | downstream | EXOSC10 | exosome component 10 | HEK-293 | skin | ||||||||||
chr1 | 1115210 | 1115213 | GGTG | AGTT | N | 1.95823145077e-06 | 5-UTR | TTLL10 | NM_153254 | tubulin tyrosine ligase-like family, member 10 | SCLC-21H | testis | |||||||||||
chr1 | 115881055 | 115881055 | G | A | rs11102930 | N | 1.54829080112e-10 | 0.468051 | upstream | NGF | nerve growth factor | U-2197 | ovary | ||||||||||
chr1 | 116916645 | 116916647 | CTC | CC | N | 0.100130960345 | 5-UTR | ATP1A1 | NM_001160233 | ATPase, Na+/K+ transporting, alpha 1 polypeptide | SK-MEL-30 | kidney | |||||||||||
chr1 | 11900437 | 11900437 | T | C | rs198412 | N | 0.00165945873596 | 0.120008 | ncRNA | NPPA-AS1 | |||||||||||||
chr1 | 11906068 | 11906068 | A | G | rs5065 | N | 0.486632794142 | 0.179113 | stoploss | NPPA | NM_006172 | 3 | 454 | 152 | X=>R | SCLC-21H | heart muscle | ||||||
chr1 | 11918927 | 11918949 | TCTGCTGCTGCTGCTGCTGCTGC | TCTGCTGCTGCTGCTGCTGCTGCTGC | N | 0.191035091877 | 5-UTR | NPPB | NM_002521 | natriuretic peptide type B | CACO-2 | heart muscle | |||||||||||
chr1 | 11940483 | 11940483 | C | T | rs4846068 | N | 5.36796128381e-12 | 0.652955 | intergenic | ||||||||||||||
chr1 | 120088934 | 120088934 | G | A | rs1983726 | N | 4.35930530784e-07 | 0.835064 | intergenic | ||||||||||||||
chr1 | 12079257 | 12079257 | T | C | rs4846087 | N | 0.0116150584072 | 1 | upstream | MIIP | migration and invasion inhibitory protein | HDLM-2 | bone marrow | ||||||||||
chr1 | 12786417 | 12786420 | AGGC | GGGT | N | 0.000153514076374 | 3-UTR | AADACL3 | NM_001103170 | arylacetamide deacetylase-like 3 | BEWO | placenta | |||||||||||
chr1 | 13736780 | 13736780 | G | C | rs80222828 | N | 0.00111686997116 | upstream | PRAMEF20 | SCLC-21H | testis | ||||||||||||
chr1 | 145510376 | 145510376 | A | G | rs1058534 | N | 0.000744427554309 | 0.797125 | ncRNA | GNRHR2 | |||||||||||||
chr1 | 146892465 | 146892465 | A | G | rs2353970 | N | 9.2265679541e-09 | 0.970847 | ncRNA | LINC00624 | |||||||||||||
chr1 | 148756432 | 148756432 | C | A | rs75058536 | N | 0.449501574039 | ncRNA | NBPF25P | ||||||||||||||
chr1 | 149224410 | 149224410 | C | A | rs7551713 | N | 0.486632794142 | 0.464657 | intergenic | ||||||||||||||
chr1 | 152189055 | 152189055 | G | C | rs4845749 | N | 1.01979001632e-10 | N | N | N | N | nonsynonymous SNV | HRNR | NM_001009931 | 3 | 5050 | 1684 | R=>G | hornerin | NTERA-2 | skin | ||
chr1 | 152193544 | 152193547 | ATGG | ATGA | N | 0.00095346767921 | nonframeshift substitution | HRNR | NM_001009931 | 3 | 558 | hornerin | NTERA-2 | skin | |||||||||
chr1 | 152193544 | 152193547 | ATGG | GTGA | N | 0.00095346767921 | nonframeshift substitution | HRNR | NM_001009931 | 3 | 558 | hornerin | NTERA-2 | skin | |||||||||
chr1 | 153589205 | 153589222 | GTCTCTCTCTCTCTCTCA | GTCTCTCTCTCTCTCTCTCTCA | N | 0.406692832708 | upstream | S100A14 | SK-BR-3 | esophagus | |||||||||||||
chr1 | 1551927 | 1551927 | T | C | rs7418389 | N | 0.00154270371422 | 0.477037 | N | N | N | N | nonsynonymous SNV | MIB2 | NM_001170687 NM_080875 NM_001170686 NM_001170688 | 2,2,2,2 | 214,214,214,214 | 72,72,72,72 | F=>L,F=>L,F=>L,F=>L | mindbomb homolog 2 (Drosophila) | HeLa | spleen | |
chr1 | 15573758 | 15573758 | G | A | rs1780597 | N | 0.486632794142 | 0.199081 | upstream | FHAD1 | forkhead-associated (FHA) phosphopeptide binding domain 1 | HMC-1 | testis | ||||||||||
chr1 | 155947875 | 155947875 | A | G | rs928596 | N | 0.00150335382205 | 0.448882 | 5-UTR | ARHGEF2 | NM_004723 | rho/rac guanine nucleotide exchange factor (GEF) 2 | SK-MEL-30 | lung | |||||||||
chr1 | 15616139 | 15616139 | G | A | rs486557 | N | 7.25154586689e-06 | 0.208067 | N | N | N | N | nonsynonymous SNV | FHAD1 | NM_052929 | 4 | 545 | 182 | R=>H | forkhead-associated (FHA) phosphopeptide binding domain 1 | HMC-1 | testis | |
chr1 | 1566068 | 1566068 | A | G | rs28730454 | N | 7.91151760495e-05 | downstream | MIB2 | mindbomb homolog 2 (Drosophila) | HeLa | spleen | |||||||||||
chr1 | 15852704 | 15852704 | T | C | rs4263990 | N | 0.000125806662254 | 0.584465 | upstream | DNAJC16 | DnaJ (Hsp40) homolog, subfamily C, member 16 | K-562 | kidney | ||||||||||
chr1 | 15909895 | 15909895 | A | G | rs6429758 | N | 1.78232753001e-07 | 0.612819 | intronic | AGMAT | Hep-G2 | kidney | |||||||||||
chr1 | 159842088 | 159842088 | T | A | rs2494518 | N | 3.95285830734e-08 | 0.798522 | downstream | CFAP45 | |||||||||||||
chr1 | 1608229 | 1608229 | C | T | rs61776790 | N | 0.000815179548226 | 0.264577 | 5-UTR | SLC35E2B | NM_001110781 NM_001290264 | SCLC-21H | ovary | ||||||||||
chr1 | 16259813 | 16259813 | A | G | rs848210 | N | 3.81332192489e-08 | 0.648962 | N | N | N | N | nonsynonymous SNV | SPEN | NM_015001 | 11 | 7078 | 2360 | N=>D | SPEN homolog, transcriptional regulator (Drosophila) | HEK-293 | ovary | |
chr1 | 16389026 | 16389026 | T | C | rs2863458 | N | 1.63605345733e-05 | 0.298323 | D | P | P | N | nonsynonymous SNV | FAM131C | NM_182623 | 3 | 142 | 48 | K=>E | family with sequence similarity 131, member C | A-549 | kidney | |
chr1 | 16464673 | 16464673 | G | A | rs2230597 | N | 2.80542855613e-09 | 0.349441 | nonsynonymous SNV | EPHA2 | NM_004431 | 5 | 987 | 329 | Q=>H | Eph receptor A2 | PC-3 | esophagus | |||||
chr1 | 16475123 | 16475126 | CAGC | TAGT | N | 0.00070842099376 | nonframeshift substitution | EPHA2 | NM_004431 | 3 | 570 | Eph receptor A2 | PC-3 | esophagus | |||||||||
chr1 | 16776743 | 16776804 | GTTTTTTTTTGTTTTGTTTTGTTTTTTGTTTTGTTTTGTTGTTTTTTTTTTTTAGGCATTTC | GTTTTTTTTTTGTTTTGTTTTGTTTTTTGTTTTGTTTTGTTGTTTTTTTTTTTTAGGCATTTT | N | 0.486632794142 | intronic | NECAP2 | NECAP endocytosis associated 2 | Karpas-707 | lymph node | ||||||||||||
chr1 | 168180219 | 168180219 | G | T | rs10737540 | N | 4.24588542955e-05 | 0.494609 | intergenic | ||||||||||||||
chr1 | 169072936 | 169072936 | C | G | rs932393 | N | 4.87139401314e-18 | 0.88119 | upstream | LOC101928596 | |||||||||||||
chr1 | 17054546 | 17054546 | T | C | rs2773193 | N | 0.486632794142 | intergenic | |||||||||||||||
chr1 | 17097722 | 17097722 | T | C | rs28469336 | N | 0.000340020022122 | intergenic | |||||||||||||||
chr1 | 17392980 | 17392980 | T | C | rs12134582 | N | 4.20492979174e-05 | 0.453075 | downstream | PADI2 | peptidyl arginine deiminase, type II | SK-BR-3 | colon | ||||||||||
chr1 | 179783922 | 179783922 | T | A | rs2236589 | N | 0.170027598739 | 0.511981 | 3-UTR | FAM163A | NM_173509 | family with sequence similarity 163, member A | SH-SY5Y | testis | |||||||||
chr1 | 18023997 | 18023999 | GCA | GCCA | D | 0.900117456913 | 3-UTR | ARHGEF10L | NM_018125 NM_001011722 NM_001319837 NM_001328124 NM_001319838 | Rho guanine nucleotide exchange factor (GEF) 10-like | Hep-G2 | skin | |||||||||||
chr1 | 181151556 | 181151556 | T | C | rs7538429 | N | 1.20009667626e-06 | 0.273363 | downstream | LOC101928973 | |||||||||||||
chr1 | 1853615 | 1853617 | TCT | TCTGACT | N | 0.107629150152 | 3-UTR | CFAP74 | NM_001304360 | ||||||||||||||
chr1 | 197876533 | 197876533 | C | A | rs1546244 | N | 7.62153431424e-05 | 0.973442 | downstream | C1orf53 | SCLC-21H | liver | |||||||||||
chr1 | 203322451 | 203322462 | TAAAAAAACACT | TAAAAAAAACACT | N | 0.453100085258 | intergenic | ||||||||||||||||
chr1 | 2065339 | 2065343 | AGGGG | GGGGC | N | 1.11052067542e-09 | intronic | PRKCZ | protein kinase C, zeta | Hep-G2 | cerebral cortex | ||||||||||||
chr1 | 20915172 | 20915172 | C | T | rs532545 | N | 3.22052619595e-05 | 0.186102 | upstream | CDA | cytidine deaminase | SiHa | bone marrow | ||||||||||
chr1 | 20915589 | 20915595 | TCCCGCT | TCCGCT | N | 0.486632794142 | 5-UTR | CDA | NM_001785 | cytidine deaminase | SiHa | bone marrow | |||||||||||
chr1 | 20945252 | 20945259 | GCCCCCTG | GCCCCCCTG | D | 0.985510826111 | 3-UTR | CDA | NM_001785 | cytidine deaminase | SiHa | bone marrow | |||||||||||
chr1 | 209848432 | 209848432 | G | A | rs932374 | N | 0.00264228601009 | 0.602835 | ncRNA | LOC101930114 | |||||||||||||
chr1 | 2130820 | 2130820 | G | A | N | 0.486632794142 | 0.00139776 | 5-UTR | FAAP20 | NM_001282670 | |||||||||||||
chr1 | 21904206 | 21904206 | C | T | rs1697405 | N | 1.72366668494e-07 | 0.336661 | 3-UTR | ALPL | NM_000478 NM_001127501 NM_001177520 | ODONTOHYPOPHOSPHATASIA | alkaline phosphatase, liver/bone/kidney | SCLC-21H | kidney | ||||||||
chr1 | 21921990 | 21921990 | C | G | rs829393 | N | 1.6195947361e-11 | 0.746006 | downstream | RAP1GAP | Rap1 GTPase-activating protein | A-549 | thyroid gland | ||||||||||
chr1 | 21929456 | 21929468 | GCCCCCCCCACAT | GCCCCCCCACAT | D | 0.722365140915 | intronic | RAP1GAP | Rap1 GTPase-activating protein | A-549 | thyroid gland | ||||||||||||
chr1 | 225653090 | 225653090 | T | C | rs4653641 | N | 7.91893762653e-05 | 0.970447 | intergenic | ||||||||||||||
chr1 | 225991176 | 225991176 | T | G | rs4653685 | N | 1.85773126304e-06 | 0.51877 | intergenic | ||||||||||||||
chr1 | 225997029 | 225997029 | T | C | rs10737419 | N | 3.45252182399e-08 | 0.690895 | upstream | EPHX1 | epoxide hydrolase 1, microsomal | SiHa | liver | ||||||||||
chr1 | 225997741 | 225997741 | C | A | rs12741681 | N | 0.486632794142 | 0.620208 | upstream | EPHX1 | epoxide hydrolase 1, microsomal | SiHa | liver | ||||||||||
chr1 | 226123389 | 226123389 | G | T | rs1223234 | N | 7.02398361696e-09 | 0.977037 | downstream | LEFTY2 | RPMI-8226 | uterus | |||||||||||
chr1 | 226818414 | 226818414 | A | G | rs1288465 | N | 0.00053900340572 | 0.539736 | downstream | ITPKB | inositol 1,4,5-trisphosphate 3-kinase B | SK-MEL-30 | adipose tissue | ||||||||||
chr1 | 227622364 | 227622364 | T | C | rs10916145 | N | 1.30013711441e-06 | 0.452875 | intergenic | ||||||||||||||
chr1 | 22832743 | 22832743 | A | T | rs209732 | N | 5.7322395719e-09 | 0.799121 | intronic | ZBTB40 | zinc finger and BTB domain containing 40 | K-562 | lymph node | ||||||||||
chr1 | 22835677 | 22835677 | A | G | rs209729 | N | 8.34492652757e-09 | 0.822484 | N | N | N | N | nonsynonymous SNV | ZBTB40 | NM_001083621 NM_014870 | 10,9 | 1784,1784 | 595,595 | Y=>C,Y=>C | zinc finger and BTB domain containing 40 | K-562 | lymph node | |
chr1 | 228366526 | 228366526 | A | G | rs6667424 | N | 0.00646077143028 | 0.946885 | 3-UTR | IBA57 | NM_001010867 NM_001310327 | IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) | SK-BR-3 | testis | |||||||||
chr1 | 22915753 | 22915753 | T | C | rs606002 | N | 1.72690892697e-08 | 0.481829 | N | N | N | N | nonsynonymous SNV | EPHA8 | NM_001006943 | 5 | 1369 | 457 | S=>P | Eph receptor A8 | SCLC-21H | adrenal gland | |
chr1 | 22915978 | 22915978 | A | T | rs521570 | N | 2.7287796911e-08 | 0.479832 | 3-UTR | EPHA8 | NM_001006943 | Eph receptor A8 | SCLC-21H | adrenal gland | |||||||||
chr1 | 22928265 | 22928265 | A | G | rs209700 | N | 1.08590150205e-08 | 0.626997 | 3-UTR | EPHA8 | NM_020526 | Eph receptor A8 | SCLC-21H | adrenal gland | |||||||||
chr1 | 2439599 | 2439599 | C | A | rs2494621 | N | 7.29462268367e-10 | 0.804712 | downstream | PANK4 | pantothenate kinase 4 | SCLC-21H | spleen | ||||||||||
chr1 | 24434595 | 24434595 | T | C | rs11249170 | N | 7.8093751199e-07 | 0.702676 | intronic | MYOM3 | myomesin family, member 3 | Hep-G2 | heart muscle | ||||||||||
chr1 | 245318385 | 245318385 | G | C | rs4658708 | N | 0.0607436336577 | 0.938698 | 5-UTR | KIF26B | NM_018012 | kinesin family member 26B | SH-SY5Y | placenta | |||||||||
chr1 | 246971018 | 246971018 | C | G | rs7517757 | N | 2.1761297625e-11 | 0.974042 | intergenic | ||||||||||||||
chr1 | 247615887 | 247615887 | T | C | rs6665526 | N | 1.25912791304e-07 | 0.757987 | upstream | OR2B11 | THP-1 | bone marrow | |||||||||||
chr1 | 2477844 | 2477844 | C | G | N | 0.316145092249 | 0.00299521 | intergenic | |||||||||||||||
chr1 | 247836494 | 247836494 | T | A | rs28607552 | N | 8.19372780825e-06 | 0.329473 | upstream | OR13G1 | HMC-1 | testis | |||||||||||
chr1 | 248437247 | 248437254 | GCCCTAAC | GC | N | 0.0285982750356 | upstream | OR2T33 | PC-3 | bone marrow | |||||||||||||
chr1 | 248458676 | 248458676 | T | C | rs6678138 | N | 5.61910237593e-05 | N | N | N | N | nonsynonymous SNV | OR2T12 | NM_001004692 | 1 | 205 | 69 | M=>V | THP-1 | adipose tissue | |||
chr1 | 25570081 | 25570081 | T | C | rs1043879 | N | 0.000547468836885 | 0.107827 | D | N | N | N | exonic | RSRP1 | |||||||||
chr1 | 26846804 | 26846804 | T | C | rs1975799 | N | 9.49256218519e-07 | 0.9377 | intergenic | ||||||||||||||
chr1 | 28261658 | 28261660 | TGA | TGGA | N | 0.19896300137 | 5-UTR | SMPDL3B | NM_001009568 NM_001304579 NM_014474 | sphingomyelin phosphodiesterase, acid-like 3B | BEWO | colon | |||||||||||
chr1 | 29474134 | 29474134 | A | C | rs2452782 | N | 3.15733528732e-12 | 0.720647 | downstream | SRSF4 | HEL | bone marrow | |||||||||||
chr1 | 29562070 | 29562070 | A | G | rs2503006 | N | 2.40984491029e-07 | 0.717851 | upstream | PTPRU | protein tyrosine phosphatase, receptor type, U | BEWO | placenta | ||||||||||
chr1 | 31345747 | 31345747 | C | T | rs3820088 | N | 0.000274082820397 | 0.229633 | 3-UTR | SDC3 | NM_014654 | syndecan 3 | WM-115 | cerebral cortex | |||||||||
chr1 | 31732390 | 31732390 | G | A | rs6425725 | N | 6.70420099644e-12 | 0.98742 | downstream | SNRNP40 | small nuclear ribonucleoprotein 40 (U5) | NTERA-2 | lymph node | ||||||||||
chr1 | 32083193 | 32083193 | G | C | rs11807225 | N | 2.97923984744e-13 | 0.484824 | upstream | HCRTR1 | hypocretin (orexin) receptor 1 | TIME | adrenal gland | ||||||||||
chr1 | 32083273 | 32083273 | G | C | rs12740754 | N | 4.0748044587e-16 | 0.35643 | upstream | HCRTR1 | hypocretin (orexin) receptor 1 | TIME | adrenal gland | ||||||||||
chr1 | 32084904 | 32084904 | C | T | rs1056526 | N | 3.07621768059e-08 | 0.352835 | synonymous SNV | HCRTR1 | NM_001525 | 3 | 111 | 37 | R=>R | hypocretin (orexin) receptor 1 | TIME | adrenal gland | |||||
chr1 | 32092525 | 32092525 | A | G | rs2271933 | N | 2.1960584462e-09 | 0.439696 | N | N | N | N | nonsynonymous SNV | HCRTR1 | NM_001525 | 9 | 1222 | 408 | I=>V | hypocretin (orexin) receptor 1 | TIME | adrenal gland | |
chr1 | 32092918 | 32092920 | TTA | TTCCTA | N | 1.51383085267e-06 | 3-UTR | HCRTR1 | NM_001525 | hypocretin (orexin) receptor 1 | TIME | adrenal gland | |||||||||||
chr1 | 32100551 | 32100559 | GAAAAAGAC | GAAAAGAC | D | 0.809151649475 | intronic | PEF1 | HEK-293 | thyroid gland | |||||||||||||
chr1 | 32165495 | 32165495 | G | T | rs2228552 | N | 1.2376537295e-10 | 0.427316 | N | D | P | N | nonsynonymous SNV | COL16A1 | NM_001856 | 4 | 185 | 62 | T=>K | collagen, type XVI, alpha 1 | U-2197 | ovary | |
chr1 | 3352503 | 3352503 | G | C | rs1537404 | N | 9.81046577309e-10 | 0.88738 | 3-UTR | PRDM16 | NM_199454 NM_022114 | PR domain containing 16 | HEK-293 | stomach | |||||||||
chr1 | 33721556 | 33721556 | G | T | rs12130266 | N | 1.52186263591e-08 | 0.951877 | upstream | ZNF362 | SH-SY5Y | adipose tissue | |||||||||||
chr1 | 3385250 | 3385250 | C | A | rs1417897 | N | 3.14934879952e-07 | 0.515375 | intronic | ARHGEF16 | Rho guanine nucleotide exchange factor (GEF) 16 | CAPAN-2 | duodenum | ||||||||||
chr1 | 35260929 | 35260929 | G | A | rs3543 | N | 5.90913806775e-09 | 0.655551 | 3-UTR | GJA4 | NM_002060 | gap junction protein, alpha 4 | EFO-21 | placenta | |||||||||
chr1 | 3527944 | 3527944 | C | G | rs10797402 | N | 2.97182769929e-13 | 0.936701 | 5-UTR | MEGF6 | NM_001409 | multiple EGF-like-domains 6 | U-2197 | skin | |||||||||
chr1 | 3528841 | 3528841 | T | C | rs2794326 | N | 2.99431195171e-14 | 0.9375 | upstream | MEGF6 | multiple EGF-like-domains 6 | U-2197 | skin | ||||||||||
chr1 | 35319681 | 35319681 | T | C | rs6697614 | N | 0.00193813024089 | 0.23722 | 3-UTR | SMIM12 | NM_001164824 NM_001164825 NM_001320261 NM_138428 | HL-60 | adrenal gland | ||||||||||
chr1 | 3539082 | 3539082 | A | G | rs10909989 | N | 6.9593202312e-09 | 0.78135 | intergenic | ||||||||||||||
chr1 | 36615669 | 36615669 | G | A | rs2231304 | N | 0.0935528576374 | 0.996006 | intronic | TRAPPC3 | HEK-293 | thyroid gland | |||||||||||
chr1 | 37959450 | 37959450 | T | C | rs215210 | N | 8.52548623698e-07 | 0.730431 | 3-UTR | MEAF6 | NM_001270875 NM_022756 | SCLC-21H | prostate | ||||||||||
chr1 | 38006359 | 38006359 | A | G | rs2174769 | N | 2.2111078124e-06 | 0.722045 | intronic | SNIP1 | Smad nuclear interacting protein 1 | NTERA-2 | bone marrow | ||||||||||
chr1 | 38022452 | 38022452 | C | A | rs2273014 | N | 0.486632794142 | 0.400559 | upstream | DNALI1 | SH-SY5Y | testis | |||||||||||
chr1 | 38030696 | 38030696 | T | C | rs6619 | N | 2.78468951365e-06 | 0.410942 | 3-UTR | DNALI1 | NM_003462 | SH-SY5Y | testis | ||||||||||
chr1 | 38049373 | 38049373 | C | T | rs3753372 | N | 0.00120176083874 | 0.411142 | intronic | GNL2 | guanine nucleotide binding protein-like 2 (nucleolar) | U-698 | bone marrow | ||||||||||
chr1 | 38052867 | 38052911 | CAAAAAAAAAAAAACAAAAACAAAGAAGCAAAAAAAAAAATGTAC | CAAAAAAAAAAAAAACAAAAACAAAGAAGCAAAAAAAAAAATGTAC | D | 0.745311737061 | intronic | GNL2 | guanine nucleotide binding protein-like 2 (nucleolar) | U-698 | bone marrow | ||||||||||||
chr1 | 38078300 | 38078300 | A | G | rs4652964 | N | 1.65923438544e-06 | 0.46865 | 3-UTR | RSPO1 | NM_001038633 NM_001242908 NM_001242909 NM_001242910 | R-spondin homolog (Xenopus laevis) | HeLa | uterus | |||||||||
chr1 | 39734598 | 39734598 | G | C | rs16826022 | N | 1.22349769205e-11 | 0.0974441 | D | D | intronic | MACF1 | microtubule-actin crosslinking factor 1 | TIME | lung | ||||||||
chr1 | 43424519 | 43424519 | T | G | rs11537640 | N | 0.486632794142 | 0.232029 | 5-UTR | SLC2A1 | NM_006516 | solute carrier family 2 (facilitated glucose transporter), member 1 | CACO-2 | placenta | |||||||||
chr1 | 43916642 | 43916642 | T | C | rs6954 | N | 1.32428930044e-08 | 0.584864 | 3-UTR | SZT2 | NM_015284 | seizure threshold 2 | THP-1 | skin | |||||||||
chr1 | 43919413 | 43919413 | A | G | rs6692611 | N | 0.0606710873544 | 0.595847 | N | N | N | N | nonsynonymous SNV | HYI | NM_031207 NM_001243526 NM_001190880 | 1,1,1 | 52,52,52 | 18,18,18 | S=>P,S=>P,S=>P | hydroxypyruvate isomerase homolog (E. coli) | CAPAN-2 | ovary | |
chr1 | 44125962 | 44125970 | CAAAAAGGT | CAAAAGGT | D | 0.878279864788 | nonframeshift substitution | KDM4A | NM_014663 | 4 | 315 | lysine (K)-specific demethylase 4A | THP-1 | duodenum | |||||||||
chr1 | 44584337 | 44584346 | GTGGCTGGCT | GTGGCT | N | 0.00494333729148 | upstream | KLF17 | Kruppel-like factor 17 | U-138-MG | testis | ||||||||||||
chr1 | 45101478 | 45101478 | T | C | rs2236219 | N | 0.000153410481289 | 0.376398 | intronic | RNF220 | ring finger protein 220 | NTERA-2 | cerebral cortex | ||||||||||
chr1 | 45467244 | 45467244 | G | T | rs6690606 | N | 1.12761405546e-07 | 0.983227 | downstream | HECTD3 | HECT domain containing 3 | SK-BR-3 | duodenum | ||||||||||
chr1 | 46660295 | 46660295 | T | C | rs2292487 | N | 5.83141400057e-07 | 0.333466 | D | synonymous SNV | POMGNT1 | NM_001290130 NM_001290129 NM_017739 NM_001243766 | 7,7,8,8 | 252,615,681,681 | 84,205,227,227 | K=>K,K=>K,K=>K,K=>K | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 | protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase | U-251-MG | heart muscle | |||
chr1 | 47655816 | 47655816 | A | G | rs2248907 | N | 3.90591720209e-13 | 0.865216 | upstream | PDZK1IP1 | PDZK1 interacting protein 1 | EFO-21 | kidney | ||||||||||
chr1 | 47906338 | 47906338 | G | A | rs2820966 | N | 2.11513966064e-11 | 0.989018 | 3-UTR | FOXD2 | NM_004474 | WM-115 | colon | ||||||||||
chr1 | 47906425 | 47906425 | G | A | rs2622916 | N | 6.31198560086e-09 | 0.989018 | downstream | FOXD2 | WM-115 | colon | |||||||||||
chr1 | 48707838 | 48707838 | A | G | rs705430 | N | 2.19195026574e-08 | 0.981629 | intronic | SLC5A9 | solute carrier family 5 (sodium/glucose cotransporter), member 9 | Hep-G2 | duodenum | ||||||||||
chr1 | 55863932 | 55863932 | A | C | rs2802855 | N | 5.90053339522e-09 | 0.988019 | intergenic | ||||||||||||||
chr1 | 61921185 | 61921205 | ATTTTTTTTTTTTTAAAATAC | ATTTTTTTTTTTTTTAAAATAC | N | 0.490008592606 | 3-UTR | NFIA | NM_001145511 NM_001145512 NM_001134673 NM_005595 | nuclear factor I/A | AN3-CA | thyroid gland | |||||||||||
chr1 | 61921185 | 61921205 | ATTTTTTTTTTTTTAAAATAC | ATTTTTTTTTTTTTTAAATAC | N | 0.22525857389 | 3-UTR | NFIA | NM_001145511 NM_001145512 NM_001134673 NM_005595 | nuclear factor I/A | AN3-CA | thyroid gland | |||||||||||
chr1 | 62917857 | 62917857 | G | A | rs597078 | N | 2.21850385174e-07 | 0.438898 | downstream | USP1 | ubiquitin specific peptidase 1 | RH-30 | testis | ||||||||||
chr1 | 62917865 | 62917865 | T | A | rs597076 | N | 4.9594518714e-07 | 0.435703 | downstream | USP1 | ubiquitin specific peptidase 1 | RH-30 | testis | ||||||||||
chr1 | 761957 | 761959 | ACT | ATCT | N | 0.275072574615 | ncRNA | LINC00115 | |||||||||||||||
chr1 | 762589 | 762592 | GGCC | CGCG | N | 0.167329534888 | ncRNA | LINC00115 | |||||||||||||||
chr1 | 76378359 | 76378376 | ATTTTTTTTTTTTCAATG | ATATATTTTTTTTCAATG | N | 0.000778348185122 | intronic | MSH4 | mutS homolog 4 (E. coli) | AN3-CA | testis | ||||||||||||
chr1 | 8087064 | 8087067 | CTGT | CTGTGT | N | 3.5262611575e-16 | upstream | ERRFI1 | ERBB receptor feedback inhibitor 1 | Hep-G2 | liver | ||||||||||||
chr1 | 812267 | 812267 | A | G | rs7541694 | N | 1.00694497185e-09 | 1 | upstream | FAM41C | |||||||||||||
chr1 | 8277315 | 8277322 | CGGGGCGA | CGGGCGA | D | 0.859944581985 | intergenic | ||||||||||||||||
chr1 | 8335155 | 8335155 | T | C | rs12753024 | N | 3.50964882045e-07 | 0.69389 | intergenic | ||||||||||||||
chr1 | 8336032 | 8336032 | C | T | rs409822 | N | 8.38113578538e-09 | 0.942292 | intergenic | ||||||||||||||
chr1 | 852133 | 852133 | C | T | rs7518702 | N | 6.35132181223e-12 | 0.728834 | downstream | LOC100130417 | |||||||||||||
chr1 | 895706 | 895706 | G | A | rs13303327 | N | 1.56434743985e-05 | 0.636382 | upstream | KLHL17 | kelch-like 17 (Drosophila) | HeLa | skin | ||||||||||
chr1 | 909309 | 909309 | T | C | rs3829738 | N | 2.49297590926e-06 | 0.254193 | N | N | N | N | nonsynonymous SNV | PLEKHN1 | NM_001160184 NM_032129 | 13,14 | 1426,1531 | 476,511 | S=>P,S=>P | pleckstrin homology domain containing, family N member 1 | HaCaT | skin | |
chr1 | 91999640 | 91999640 | A | G | rs595801 | N | 4.51245929511e-10 | 0.988219 | intergenic | ||||||||||||||
chr1 | 930567 | 930567 | A | G | rs3121574 | N | 2.63261645159e-05 | 0.371805 | intergenic | ||||||||||||||
chr1 | 935715 | 935715 | C | T | rs3128114 | N | 2.59794960584e-05 | 0.132188 | upstream | HES4 | HEK-293 | adipose tissue | |||||||||||
chr1 | 943687 | 943687 | G | C | rs2465140 | N | 3.636312249e-05 | 0.296126 | intergenic | ||||||||||||||
chr1 | 94386780 | 94386780 | G | C | rs7526920 | N | 6.5873081212e-08 | 0.785144 | intergenic | ||||||||||||||
chr1 | 949608 | 949608 | G | A | rs1921 | N | 4.24215301775e-10 | 0.338858 | N | N | N | N | nonsynonymous SNV | ISG15 | NM_005101 | 2 | 248 | 83 | S=>N | ISG15 ubiquitin-like modifier | HeLa | salivary gland | |
chr1 | 9498113 | 9498113 | T | C | rs9660890 | N | 0.000226648859098 | 0.335663 | intergenic | ||||||||||||||
chr1 | 95557220 | 95557220 | C | T | rs6690421 | N | 9.64913579082e-06 | 0.470647 | upstream | TMEM56 | RH-30 | liver | |||||||||||
chr1 | 98387375 | 98387392 | CCCCCCCCCCACCCCTGT | CGCCCCCCCCCACCCCTGT | N | 0.0398621074855 | upstream | DPYD | dihydropyrimidine dehydrogenase | U-138-MG | gallbladder | ||||||||||||
chr1 | 987200 | 987200 | C | T | rs9803031 | N | 6.69532118991e-06 | 0.788738 | intronic | AGRN | MYASTHENIC SYNDROME, CONGENITAL, WITH PRE- AND POSTSYNAPTIC DEFECTS | agrin | HaCaT | kidney | |||||||||
chr1 | 99127205 | 99127205 | A | G | rs12723363 | N | 0.26071035862 | 0.865216 | upstream | SNX7 | SH-SY5Y | colon | |||||||||||
chr1 | 9988300 | 9988300 | G | A | rs3013783 | N | 0.000571774900891 | 0.527556 | 3-UTR | LZIC | NM_001316973 NM_001316974 NM_001316976 NM_032368 | leucine zipper and CTNNBIP1 domain containing | K-562 | testis | |||||||||
chr10 | 101689378 | 101689378 | G | C | rs7077718 | N | 3.87775713762e-07 | 0.486821 | exonic | DNMBP | dynamin binding protein | TIME | small intestine | ||||||||||
chr10 | 102587574 | 102587574 | T | C | rs12098288 | N | 5.88263517898e-08 | 0.3748 | 3-UTR | PAX2 | NM_001304569 NM_000278 NM_003987 NM_003988 NM_003989 NM_003990 | PAPILLORENAL SYNDROME | paired box gene 2 | EFO-21 | kidney | ||||||||
chr10 | 102770082 | 102770082 | T | G | rs807023 | N | 1.55784014161e-11 | 0.772963 | nonsynonymous SNV | PDZD7 | NM_001195263 | 15 | 2564 | 855 | N=>T | PDZ domain containing 7 | THP-1 | small intestine | |||||
chr10 | 102901616 | 102901616 | T | C | rs7086378 | N | 1.23920145256e-07 | 0.873403 | upstream | TLX1NB | BEWO | spleen | |||||||||||
chr10 | 102954338 | 102954338 | G | C | rs792728 | N | 5.64467512731e-08 | 0.621805 | downstream | LINC01514 | |||||||||||||
chr10 | 103070725 | 103070725 | C | A | rs676307 | N | 1.4312481686e-23 | 0.961462 | intergenic | ||||||||||||||
chr10 | 103330171 | 103330171 | C | T | rs3127248 | N | 0.0101440772414 | 0.743411 | intergenic | ||||||||||||||
chr10 | 103536199 | 103536199 | T | G | rs2735427 | N | 6.45951586193e-05 | 0.998003 | intronic | FGF8 | fibroblast growth factor 8 | RH-30 | cerebral cortex | ||||||||||
chr10 | 104235799 | 104235823 | GTTTTTTTTGGTTTTTTTTTTAAGG | GTTTTTTTTTGGTTTTTTTTTTAAGG | N | 0.214529514313 | 3-UTR | MFSD13A | NM_024789 | ||||||||||||||
chr10 | 104404335 | 104404335 | A | T | rs4146426 | N | 0.140240356326 | 0.114816 | 5-UTR | TRIM8 | NM_030912 | EFO-21 | kidney | ||||||||||
chr10 | 105253930 | 105253931 | CT | TC | N | 2.06556046578e-06 | ncRNA | NEURL1-AS1 | |||||||||||||||
chr10 | 105726338 | 105726338 | T | C | rs6584583 | N | 4.74048101751e-05 | 0.83107 | upstream | SLK | STE20-like kinase | RT-4 | esophagus | ||||||||||
chr10 | 114059330 | 114059351 | TCTCTGTTTTCCTCTGTTTTCC | TCTCTGTTTTCC | N | 0.133856862783 | intronic | TECTB | tectorin beta | Hep-G2 | liver | ||||||||||||
chr10 | 114186624 | 114186624 | G | A | rs2256368 | N | 2.0851713689e-09 | 0.963858 | intronic | ACSL5 | acyl-CoA synthetase long-chain family member 5 | CAPAN-2 | small intestine | ||||||||||
chr10 | 115515120 | 115515120 | G | A | rs3981351 | N | 4.77087738204e-08 | 0.691294 | 5-UTR | PLEKHS1 | NM_001193434 NM_001193435 | RT-4 | salivary gland | ||||||||||
chr10 | 115540652 | 115540652 | C | T | rs3750900 | N | 0.0164934098721 | 0.34984 | 3-UTR | PLEKHS1 | NM_001193434 NM_001193435 NM_024889 | RT-4 | salivary gland | ||||||||||
chr10 | 120692835 | 120692835 | C | T | rs10787881 | N | 1.68274034706e-08 | 0.557907 | intergenic | ||||||||||||||
chr10 | 1224096 | 1224098 | GAT | GAAT | N | 0.016975980252 | 3-UTR | ADARB2 | NM_018702 | adenosine deaminase, RNA-specific, B2 | HDLM-2 | cerebral cortex | |||||||||||
chr10 | 124595874 | 124595898 | GAAAAAAAAAAAAAAAAGAATGGTC | GAAAAAAAAAAAAAAAGAATGGTC | N | 0.000272255856544 | ncRNA | FAM24B-CUZD1 | |||||||||||||||
chr10 | 126480556 | 126480556 | T | C | rs10901821 | N | 0.486632794142 | 0.725839 | upstream | METTL10 | methyltransferase like 10 | A-431 | testis | ||||||||||
chr10 | 134020093 | 134020093 | G | A | rs2818416 | N | 8.98345263067e-07 | 0.84345 | downstream | DPYSL4 STK32C | |||||||||||||
chr10 | 135091981 | 135091981 | A | G | rs1005806 | N | 0.000907922512852 | 0.903155 | downstream | TUBGCP2 | tubulin, gamma complex associated protein 2 | U-87-MG | ovary | ||||||||||
chr10 | 135150600 | 135150600 | T | G | rs35297981 | N | 8.26806993096e-13 | 0.904353 | upstream | CALY | SH-SY5Y | cerebral cortex | |||||||||||
chr10 | 135469915 | 135469915 | G | A | rs28629252 | N | 0.00123549206182 | intergenic | |||||||||||||||
chr10 | 15058862 | 15058895 | GAAAAAAAAAAAAAAAAAAAAAGAATGAACAGTC | GAAAAAAAAAAAAAAAAAAAGAATGAACAGTC | N | 0.00677663553506 | intergenic | ||||||||||||||||
chr10 | 15256194 | 15256194 | G | A | rs3814165 | N | 5.39498478247e-06 | 0.124201 | N | P | P | N | nonsynonymous SNV | FAM171A1 | NM_001010924 | 8 | 1393 | 465 | P=>S | family with sequence similarity 171, member A1 | TIME | cerebral cortex | |
chr10 | 17156151 | 17156151 | A | G | rs1801222 | N | 0.486632794142 | 0.799321 | N | N | N | D | nonsynonymous SNV | CUBN | NM_001081 | 8 | 758 | 253 | F=>S | cubilin (intrinsic factor-cobalamin receptor) | AN3-CA | kidney | |
chr10 | 17172221 | 17172221 | T | A | rs7923464 | N | 8.56838869367e-06 | 0.748403 | upstream | CUBN | cubilin (intrinsic factor-cobalamin receptor) | AN3-CA | kidney | ||||||||||
chr10 | 17645814 | 17645814 | C | T | rs2252808 | N | 1.77562711201e-08 | 0.605232 | intronic | HACD1 | |||||||||||||
chr10 | 18834797 | 18834820 | TAAAAAAAAAAAAACCACAGACAG | TAAAAAAAAAAAACCACAGACAG | N | 0.100064478815 | 3-UTR | NSUN6 | NM_182543 | NOL1/NOP2/Sun domain family member 6 | K-562 | liver | |||||||||||
chr10 | 18948298 | 18948306 | TGGAGAGGC | TGAGAGGC | N | 0.486632794142 | upstream | ARL5B | ADP-ribosylation factor-like 5B | Hep-G2 | adrenal gland | ||||||||||||
chr10 | 20081528 | 20081528 | C | G | rs10764159 | N | 1.49581546793e-05 | 0.596645 | intergenic | ||||||||||||||
chr10 | 24831505 | 24831505 | G | C | rs867040 | D | 0.903997540474 | 0.213858 | intronic | KIAA1217 | BEWO | adipose tissue | |||||||||||
chr10 | 26868240 | 26868240 | T | A | rs79933479 | N | 0.000906174129341 | upstream | LOC101929117 | ||||||||||||||
chr10 | 27158081 | 27158081 | A | C | rs2505965 | N | 6.05272212559e-12 | 0.98103 | intergenic | ||||||||||||||
chr10 | 27158125 | 27158132 | CCTCCTAC | CC | N | 4.72861538583e-05 | intergenic | ||||||||||||||||
chr10 | 27158125 | 27158132 | CCTCCTAC | CCTCCTCC | N | 3.35018376063e-06 | intergenic | ||||||||||||||||
chr10 | 27436295 | 27436295 | A | C | rs3780926 | N | 7.16032764103e-06 | 0.397165 | intronic | YME1L1 | YME1-like 1 (S. cerevisiae) | RH-30 | thyroid gland | ||||||||||
chr10 | 27444303 | 27444303 | G | A | rs3824593 | N | 0.00675058877096 | 0.397165 | 5-UTR | MASTL | NM_001172303 NM_001172304 NM_001320756 NM_001320757 NM_032844 | microtubule associated serine/threonine kinase-like | RH-30 | bone marrow | |||||||||
chr10 | 27444328 | 27444329 | CT | AC | N | 0.0681193172932 | 5-UTR | MASTL | NM_001172303 NM_001172304 NM_001320756 NM_001320757 NM_032844 | microtubule associated serine/threonine kinase-like | RH-30 | bone marrow | |||||||||||
chr10 | 27536232 | 27536232 | A | G | rs1144511 | N | 1.10164796752e-06 | 0.401558 | ncRNA | LRRC37A6P | |||||||||||||
chr10 | 27539507 | 27539507 | C | T | rs7896532 | N | 6.28571328321e-08 | 0.521366 | ncRNA | LRRC37A6P | |||||||||||||
chr10 | 27541730 | 27541730 | C | T | rs495920 | N | 0.0597116351128 | 0.980631 | upstream | LRRC37A6P | |||||||||||||
chr10 | 27703234 | 27703234 | A | G | rs7071851 | N | 1.79321844485e-07 | 0.460064 | 5-UTR | PTCHD3 | NM_001034842 | patched domain containing 3 | A-431 | testis | |||||||||
chr10 | 28378758 | 28378758 | T | C | rs2997211 | N | 0.00176634953823 | 0.931709 | N | N | N | N | synonymous SNV | MPP7 | NM_173496 | 14 | 965 | 322 | S=>S | membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) | CACO-2 | esophagus | |
chr10 | 28957854 | 28957854 | T | C | rs11007191 | N | 0.002804097021 | 0.264377 | intergenic | ||||||||||||||
chr10 | 30663582 | 30663582 | T | C | rs2251778 | N | 3.58942387498e-16 | 0.990216 | intergenic | ||||||||||||||
chr10 | 3179703 | 3179703 | C | T | rs4881107 | N | 0.336802065372 | 0.432308 | downstream | PFKP PITRM1 | |||||||||||||
chr10 | 3180343 | 3180343 | A | G | rs2388559 | N | 4.10949860452e-06 | 0.480831 | intronic | PITRM1 | pitrilysin metallepetidase 1 | U-2197 | testis | ||||||||||
chr10 | 35104568 | 35104568 | C | G | rs117338311 | N | 0.00469289021567 | 0.199081 | upstream | PARD3 PARD3-AS1 | |||||||||||||
chr10 | 37234575 | 37234576 | AG | CC | N | 8.4540064563e-05 | intergenic | ||||||||||||||||
chr10 | 38989586 | 38989586 | A | G | N | 0.00102226261515 | upstream | ACTR3BP5 | |||||||||||||||
chr10 | 42645709 | 42645709 | A | G | rs74793214 | N | 2.29689539992e-05 | intergenic | |||||||||||||||
chr10 | 42774410 | 42774410 | G | T | rs140348669 | N | 0.00633982848376 | intergenic | |||||||||||||||
chr10 | 43265880 | 43265880 | G | C | rs947549 | N | 1.02737578445e-08 | 0.875799 | downstream | LOC105378269 | |||||||||||||
chr10 | 44789602 | 44789602 | G | A | rs809601 | N | 7.86018894416e-09 | 0.899561 | 3-UTR | C10orf142 | NM_001258000 | ||||||||||||
chr10 | 49218553 | 49218553 | T | C | rs77581903 | N | 0.027032142505 | ncRNA | AGAP12P | ||||||||||||||
chr10 | 51549221 | 51549224 | GCTG | GCTCTG | N | 0.00371494307183 | intronic | TIMM23B | U-937 | testis | |||||||||||||
chr10 | 5164265 | 5164267 | TGC | TGCAAGC | N | 0.0211813263595 | intergenic | ||||||||||||||||
chr10 | 5164276 | 5164276 | A | C | rs12775468 | N | 3.82994898018e-07 | 0.884784 | intergenic | ||||||||||||||
chr10 | 58355612 | 58355635 | GTTTTTTTTTTTTTTTTTGGCATG | GTTTTTTTTTTTTTTTGGCATG | N | 0.041888192296 | intergenic | ||||||||||||||||
chr10 | 58355612 | 58355635 | GTTTTTTTTTTTTTTTTTGGCATG | GTTTTTTTTTTTTTTTTGGCATG | N | 0.041888192296 | intergenic | ||||||||||||||||
chr10 | 6188338 | 6188338 | A | G | rs7074082 | N | 3.90993790234e-07 | 0.316893 | 5-UTR | PFKFB3 | NM_001282630 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | A-549 | adipose tissue | |||||||||
chr10 | 71027029 | 71027029 | A | G | rs4746832 | N | 6.00576868237e-07 | 0.990615 | 3-UTR | HKDC1 | NM_025130 | hexokinase domain containing 1 | CAPAN-2 | duodenum | |||||||||
chr10 | 71337429 | 71337429 | A | G | rs2812544 | N | 9.810498941e-11 | 0.948882 | intergenic | ||||||||||||||
chr10 | 72575259 | 72575272 | TGGGGGGGGGCAGT | TGGGGGGGGCAGT | N | 0.00234867888503 | upstream | SGPL1 | sphingosine phosphate lyase 1 | RT-4 | urinary bladder | ||||||||||||
chr10 | 88281779 | 88281779 | T | C | rs1917161 | N | 0.486632794142 | 0.816893 | upstream | WAPL | |||||||||||||
chr10 | 88425754 | 88425754 | A | G | rs2736687 | N | 3.0907307963e-13 | 0.998602 | 3-UTR | OPN4 | NM_001030015 NM_033282 | opsin 4 (melanopsin) | U-138-MG | cerebral cortex | |||||||||
chr10 | 88428076 | 88428076 | A | T | rs2675692 | N | 2.89149565402e-10 | 0.828075 | upstream | LDB3 | MYOPATHY, MYOFIBRILLAR, 4 | LIM domain binding 3 | SCLC-21H | heart muscle | |||||||||
chr10 | 88723494 | 88723494 | A | G | rs2131395 | N | 9.77078769455e-13 | 0.997604 | downstream | SNCG | CAPAN-2 | adipose tissue | |||||||||||
chr10 | 89623901 | 89623901 | G | C | rs2943772 | N | 0.00449895858765 | 1 | nonsynonymous SNV | PTEN | NM_001304717 | 2 | 194 | 65 | C=>S | Karpas-707 | adipose tissue | ||||||
chr10 | 92753967 | 92753967 | C | T | rs7917186 | N | 5.48375169274e-07 | 0.988019 | intergenic | ||||||||||||||
chr10 | 9407618 | 9407618 | C | T | rs2783057 | N | 7.55532425956e-07 | 0.784744 | intergenic | ||||||||||||||
chr10 | 9407810 | 9407810 | T | C | rs55826330 | N | 6.37510424895e-07 | 0.784545 | intergenic | ||||||||||||||
chr10 | 9407815 | 9407821 | TTTCTCC | TTCC | N | 0.00835019070655 | intergenic | ||||||||||||||||
chr10 | 9407906 | 9407906 | G | A | rs2783056 | N | 4.05009245696e-07 | 0.784545 | intergenic | ||||||||||||||
chr10 | 95256275 | 95256275 | G | A | rs1880263 | N | 0.0174004789442 | 0.310503 | upstream | CEP55 | centrosomal protein 55 | A-431 | testis | ||||||||||
chr10 | 96522365 | 96522365 | T | C | rs4986894 | N | 0.000396010640543 | 0.21905 | upstream | CYP2C19 | MEPHENYTOIN, POOR METABOLISM OF | CACO-2 | liver | ||||||||||
chr10 | 98819317 | 98819317 | A | G | rs2817676 | N | 1.00606438735e-08 | 0.605032 | D | N | N | N | intronic | SLIT1 | slit homolog 1 (Drosophila) | MOLT-4 | cerebral cortex | ||||||
chr10 | 99094436 | 99094436 | G | A | rs1890966 | N | 1.85342546866e-10 | 0.318291 | 5-UTR | FRAT2 | NM_012083 | U-937 | duodenum | ||||||||||
chr10 | 99330813 | 99330813 | A | G | rs10748705 | N | 3.19873056333e-15 | 0.98143 | 3-UTR | UBTD1 | NM_024954 | PC-3 | testis | ||||||||||
chr11 | 100814609 | 100814609 | G | T | rs618155 | N | 9.1009294545e-10 | 0.915535 | intronic | ARHGAP42 | Rho GTPase activating protein 42 | CAPAN-2 | placenta | ||||||||||
chr11 | 1027811 | 1027811 | C | T | rs7481521 | N | 3.58990400855e-05 | 0.396965 | N | D | P | N | nonsynonymous SNV | MUC6 | NM_005961 | 16 | 1855 | 619 | V=>M | mucin 6, gastric | SCLC-21H | stomach | |
chr11 | 105007547 | 105007547 | C | T | rs1503393 | N | 3.81811808836e-08 | 0.958466 | downstream | CARD18 | U-2-OS | skin | |||||||||||
chr11 | 1081074 | 1081074 | T | C | rs41411848 | N | 1.12697504662e-08 | 0.36262 | nonsynonymous SNV | MUC2 | NM_002457 | 11 | 1370 | 457 | V=>A | mucin 2 | |||||||
chr11 | 1081151 | 1081151 | T | C | rs41464048 | N | 7.75717268198e-08 | 0.369808 | intronic | MUC2 | mucin 2 | ||||||||||||
chr11 | 1081757 | 1081757 | G | C | rs57737240 | N | 1.15544462886e-08 | 0.367013 | nonsynonymous SNV | MUC2 | NM_002457 | 13 | 1685 | 562 | S=>T | mucin 2 | |||||||
chr11 | 11398725 | 11398725 | T | C | rs12290003 | N | 0.00241367309354 | 0.0579073 | intronic | GALNT18 | HaCaT | thyroid gland | |||||||||||
chr11 | 117709754 | 117709754 | C | T | rs564989 | N | 4.11563334524e-08 | 0.636382 | intronic | FXYD6 FXYD6-FXYD2 | |||||||||||||
chr11 | 118302901 | 118302901 | T | C | rs510997 | N | 0.0126286465675 | 0.277157 | intergenic | ||||||||||||||
chr11 | 119038913 | 119038913 | T | G | rs10790285 | N | 6.46600557385e-14 | 1 | upstream | NLRX1 | NLR family member X1 | EFO-21 | esophagus | ||||||||||
chr11 | 121233907 | 121233907 | A | G | rs11218274 | N | 1.86117867997e-05 | 0.532748 | intergenic | ||||||||||||||
chr11 | 12301957 | 12301957 | A | G | rs2403609 | N | 4.11695246783e-08 | 0.811502 | intergenic | ||||||||||||||
chr11 | 12315186 | 12315186 | G | A | rs10741578 | N | 3.80411108836e-07 | 0.533746 | N | N | N | N | nonsynonymous SNV | MICALCL | NM_032867 | 3 | 208 | 70 | V=>I | MICAL C-terminal like | RT-4 | skin | |
chr11 | 12534707 | 12534707 | G | A | rs2243707 | N | 1.27748744916e-09 | 0.750799 | intronic | PARVA | parvin, alpha | TIME | uterus | ||||||||||
chr11 | 133670275 | 133670275 | G | A | rs35223779 | N | 1.58976999955e-05 | 0.340056 | ncRNA | LOC646522 | |||||||||||||
chr11 | 133901854 | 133901854 | A | G | rs608838 | N | 4.08961087217e-10 | 0.637181 | upstream | LOC100128239 | |||||||||||||
chr11 | 134117015 | 134117015 | T | C | rs492761 | N | 1.10308828738e-08 | 0.925319 | 3-UTR | VPS26B | NM_052875 | MOLT-4 | skin | ||||||||||
chr11 | 1481930 | 1481930 | A | G | rs4963048 | N | 0.000321097206324 | N | N | N | N | nonsynonymous SNV | BRSK2 | NM_001256630 NM_001256627 | 20,20 | 2278,760,2188,730 | 760,730 | T=>A,T=>A | BR serine/threonine kinase 2 | SCLC-21H | pancreas | ||
chr11 | 1491096 | 1491096 | G | A | rs9440 | N | 2.63425503633e-09 | 0.548323 | 3-UTR | MOB2 | NM_053005 NM_001172223 | MOB kinase activator 2 | CAPAN-2 | skin | |||||||||
chr11 | 1508353 | 1508353 | A | G | rs1609986 | N | 2.1003110362e-07 | 0.940296 | upstream | MOB2 | MOB kinase activator 2 | CAPAN-2 | skin | ||||||||||
chr11 | 1650047 | 1650047 | T | C | rs1021345 | N | 1.08014774014e-05 | 0.221645 | upstream | KRTAP5-5 | SH-SY5Y | gallbladder | |||||||||||
chr11 | 17740991 | 17741001 | ACCCCCCCAAG | ACCCCCCCCAAG | N | 0.142152503133 | upstream | MYOD1 | myogenic differentiation 1 | RH-30 | prostate | ||||||||||||
chr11 | 17756213 | 17756213 | G | A | rs28724581 | N | 0.486632794142 | 0.43131 | intergenic | ||||||||||||||
chr11 | 18022305 | 18022309 | TCACA | TA | D | 0.830316185951 | intronic | SERGEF | secretion regulating guanine nucleotide exchange factor | Hep-G2 | thyroid gland | ||||||||||||
chr11 | 18063977 | 18063977 | A | T | rs623580 | N | 4.67582685815e-06 | 0.60643 | intergenic | ||||||||||||||
chr11 | 18127558 | 18127573 | CCGGCGGCGGCGGCGA | CCGGCGGCGGCGGCGGCGA | N | 0.486632794142 | nonframeshift substitution | SAAL1 | NM_138421 | 1 | 16 | Daudi | lymph node | ||||||||||
chr11 | 18231749 | 18231749 | T | G | rs2468789 | N | 7.40697316814e-07 | 0.880391 | ncRNA | LOC494141 | |||||||||||||
chr11 | 18253176 | 18253176 | C | T | rs2460827 | N | 2.23688061851e-07 | 0.880591 | N | N | N | N | nonsynonymous SNV | SAA2-SAA4 SAA4 | NM_001199744 NM_006512 | 6,4 | 500,266 | 167,89 | C=>Y,C=>Y | ||||
chr11 | 1848171 | 1848178 | GCCCCCAG | GCCCCCCAG | N | 0.00117278390098 | intergenic | ||||||||||||||||
chr11 | 18656062 | 18656062 | G | C | rs7943121 | N | 0.486632794142 | 0.469449 | upstream | SPTY2D1 | SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) | Karpas-707 | bone marrow | ||||||||||
chr11 | 18743180 | 18743180 | C | G | rs10832975 | N | 0.000102493970189 | 0.360024 | N | N | N | N | nonsynonymous SNV | IGSF22 | NM_173588 | 4 | 280 | 94 | A=>P | AN3-CA | kidney | ||
chr11 | 18747959 | 18747959 | T | C | rs4237729 | N | 1.21100178774e-08 | 0.76258 | upstream | IGSF22 | AN3-CA | kidney | |||||||||||
chr11 | 1887806 | 1887806 | T | A | rs7938342 | N | 4.88137118282e-07 | 0.624401 | N | P | N | N | nonsynonymous SNV | LSP1 | NM_001242932 | 2 | 102 | 34 | H=>Q | lymphocyte specific 1 | HDLM-2 | spleen | |
chr11 | 19167850 | 19167850 | A | G | rs2271001 | N | 1.54195231516e-06 | 0.607628 | N | N | N | N | nonsynonymous SNV | ZDHHC13 | NM_019028 | 3 | 296 | 99 | K=>R | zinc finger, DHHC domain containing 13 | HaCaT | esophagus | |
chr11 | 23541506 | 23541506 | A | G | rs11027275 | N | 1.14531193418e-08 | 0.709665 | intergenic | ||||||||||||||
chr11 | 295006 | 295006 | C | G | rs2242564 | N | 7.24198798707e-06 | 0.251597 | 3-UTR | PGGHG | NM_025092 | ||||||||||||
chr11 | 295670 | 295670 | G | A | rs7104019 | N | 9.81245875664e-08 | 0.650958 | 3-UTR | PGGHG | NM_025092 | ||||||||||||
chr11 | 3078885 | 3078885 | T | G | rs384490 | N | 0.486632794142 | 0.40655 | upstream | CARS | cysteinyl-tRNA synthetase | Karpas-707 | thyroid gland | ||||||||||
chr11 | 3247260 | 3247260 | C | G | rs7483030 | N | 2.88552515215e-09 | 0.995208 | intergenic | ||||||||||||||
chr11 | 33722483 | 33722485 | TCG | TGCG | N | 0.113582283258 | upstream | C11orf91 | HeLa | testis | |||||||||||||
chr11 | 3381369 | 3381369 | G | C | rs62619253 | N | 5.55517708656e-13 | 0.223842 | D | N | N | N | nonsynonymous SNV | ZNF195 | NM_001130520 NM_001130519 NM_001256825 NM_001242843 NM_001242841 NM_007152 NM_001256824 NM_001242842 | 6,5,5,5,6,4,6,6 | 869,800,665,665,812,653,758,734 | 290,267,222,222,271,218,253,245 | P=>R,P=>R,P=>R,P=>R,P=>R,P=>R,P=>R,P=>R | NTERA-2 | lymph node | ||
chr11 | 3443773 | 3443773 | A | G | rs7124571 | N | 0.0865351259708 | 0.6252 | intergenic | ||||||||||||||
chr11 | 3444608 | 3444608 | G | A | rs11027128 | N | 2.47461393883e-05 | 0.414337 | intergenic | ||||||||||||||
chr11 | 3444641 | 3444641 | G | C | rs11027129 | N | 0.000386807776522 | 0.409545 | intergenic | ||||||||||||||
chr11 | 391748 | 391748 | T | A | rs6598026 | N | 4.13630805269e-05 | 0.539736 | upstream | PKP3 | plakophilin 3 | HaCaT | skin | ||||||||||
chr11 | 406043 | 406043 | G | A | rs7947 | N | 1.78726350668e-13 | 0.906749 | N | N | N | N | synonymous SNV | SIGIRR | NM_021805 NM_001135054 NM_001135053 | 10,10,10 | 1086,1086,1086 | 362,362,362 | V=>V,V=>V,V=>V | single immunoglobulin and toll-interleukin 1 receptor (TIR) domain | CAPAN-2 | spleen | |
chr11 | 45255075 | 45255075 | G | C | rs3740783 | N | 9.99842450256e-06 | 0.791534 | 3-UTR | PRDM11 | NM_001256695 | PR domain containing 11 | U-138-MG | thyroid gland | |||||||||
chr11 | 45257823 | 45257823 | G | C | rs7395987 | N | 3.30193685727e-08 | 1 | intergenic | ||||||||||||||
chr11 | 45931019 | 45931019 | C | A | rs11600112 | N | 4.9362613606e-13 | 0.695887 | downstream | PEX16 | PEROXISOME BIOGENESIS DISORDER 8B | peroxisomal biogenesis factor 16 | U-266/70 | duodenum | |||||||||
chr11 | 4739784 | 4739784 | C | T | rs4910666 | N | 3.16944933729e-05 | 0.40615 | intergenic | ||||||||||||||
chr11 | 49913374 | 49913374 | G | A | rs10839438 | N | 1.58227546621e-08 | 0.685903 | intergenic | ||||||||||||||
chr11 | 49915335 | 49915339 | GGGCC | CGGCT | N | 0.00101311097387 | intergenic | ||||||||||||||||
chr11 | 49915344 | 49915344 | G | A | rs4881625 | N | 2.18956074605e-07 | 0.686502 | intergenic | ||||||||||||||
chr11 | 5199222 | 5199222 | A | C | rs7924390 | N | 1.75491692289e-08 | 0.718051 | intergenic | ||||||||||||||
chr11 | 5199340 | 5199342 | AAT | AATGCCCAT | N | 0.00354923936538 | intergenic | ||||||||||||||||
chr11 | 531514 | 531514 | T | C | rs11246174 | N | 2.10557254832e-06 | 0.241414 | downstream | HRAS | SCLC-21H | skin | |||||||||||
chr11 | 5345128 | 5345128 | G | A | rs10837814 | N | 1.84666873793e-07 | 0.44349 | D | D | D | N | nonsynonymous SNV | OR51B2 | NM_033180 | 1 | 400 | 134 | L=>F | ||||
chr11 | 5444061 | 5444061 | G | A | rs2736586 | N | 8.91675969172e-12 | 0.453674 | N | N | N | N | nonsynonymous SNV | OR51Q1 | NM_001004757 | 1 | 631 | 211 | V=>M | RT-4 | adipose tissue | ||
chr11 | 5444353 | 5444353 | T | C | rs2647573 | N | 3.35259180417e-08 | 0.453674 | D | N | N | N | nonsynonymous SNV | OR51Q1 | NM_001004757 | 1 | 923 | 308 | F=>S | RT-4 | adipose tissue | ||
chr11 | 55038375 | 55038375 | T | C | rs3213870 | N | 3.44199338542e-06 | 0.581869 | 3-UTR | TRIM48 | NM_024114 | SK-MEL-30 | skin | ||||||||||
chr11 | 55682111 | 55682111 | T | G | rs2940752 | N | 5.76341072644e-08 | 0.996805 | upstream | OR5W2 | A-431 | adipose tissue | |||||||||||
chr11 | 6129837 | 6129837 | C | T | rs1462983 | N | 1.30898003547e-09 | 0.503994 | N | D | D | N | nonsynonymous SNV | OR56B4 | NM_001005181 | 1 | 829 | 277 | P=>S | U-266/84 | appendix | ||
chr11 | 62619000 | 62619000 | C | G | rs524891 | N | 0.0536910966039 | 0.9998 | downstream | SNHG1 | |||||||||||||
chr11 | 6342329 | 6342329 | T | G | rs1488864 | N | 0.486632794142 | 0.777356 | upstream | PRKCDBP | WM-115 | testis | |||||||||||
chr11 | 64012949 | 64012962 | TGGGGGGGGGAGCT | TGGGGGGGGAGCT | N | 0.161012083292 | intronic | PPP1R14B | PC-3 | skin | |||||||||||||
chr11 | 64091782 | 64091782 | T | C | rs604493 | N | 1.11261595492e-08 | 0.935304 | intergenic | ||||||||||||||
chr11 | 65748215 | 65748215 | T | C | rs9666939 | N | 4.59005136122e-08 | 0.945288 | downstream | SART1 | squamous cell carcinoma antigen recognized by T cells 1 | MCF-7 | bone marrow | ||||||||||
chr11 | 6662745 | 6662770 | CCAGCAGCAGCAGCAGCAGCAGCAGC | CCAGCAGCAGCAGCAGCAGCAGCAGCAGC | N | 0.000126629762235 | nonframeshift substitution | DCHS1 | NM_003737 | 2 | 75 | dachsous 1 (Drosophila) | SH-SY5Y | uterus | |||||||||
chr11 | 67378229 | 67378229 | T | G | rs3016861 | N | 5.62330892961e-09 | 0.957668 | intronic | NDUFV1 | NADH dehydrogenase (ubiquinone) flavoprotein 1 | RPMI-8226 | heart muscle | ||||||||||
chr11 | 67380355 | 67380355 | T | C | rs7947114 | N | 1.41198983061e-10 | 0.951877 | downstream | DOC2GP NDUFV1 | |||||||||||||
chr11 | 67383557 | 67383557 | C | T | rs56092845 | N | 2.42087789815e-08 | 0.441693 | upstream | DOC2GP | |||||||||||||
chr11 | 67421496 | 67421496 | C | T | rs2514023 | N | 7.55415552334e-09 | 0.978435 | intergenic | ||||||||||||||
chr11 | 67430264 | 67430264 | A | G | rs1551885 | N | 4.04434459256e-08 | 0.940096 | 3-UTR | ALDH3B2 | NM_000695 NM_001031615 | MCF-7 | skin | ||||||||||
chr11 | 68767643 | 68767643 | T | C | rs1249581 | N | 2.99708369234e-10 | 0.932508 | intergenic | ||||||||||||||
chr11 | 69282036 | 69282036 | C | A | rs3740643 | N | 5.67375444405e-08 | 0.558107 | intergenic | ||||||||||||||
chr11 | 69924226 | 69924226 | C | T | rs2509134 | N | 7.68012942132e-09 | 0.840655 | upstream | ANO1 | anoctamin 1, calcium activated chloride channel | HaCaT | salivary gland | ||||||||||
chr11 | 70217547 | 70217547 | C | A | D | 0.940528988838 | intronic | PPFIA1 | protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 | A-431 | testis | ||||||||||||
chr11 | 70217547 | 70217547 | C | G | rs10898970 | D | 0.940528988838 | intronic | PPFIA1 | protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 | A-431 | testis | |||||||||||
chr11 | 709401 | 709401 | A | G | rs10902202 | N | 3.86121740803e-07 | 0.349241 | 5-UTR | EPS8L2 | NM_022772 | EPS8-like 2 | SK-BR-3 | small intestine | |||||||||
chr11 | 71497631 | 71497631 | C | T | rs7112161 | N | 0.0373706147075 | 0.453474 | upstream | FAM86C1 | RPMI-8226 | thyroid gland | |||||||||||
chr11 | 71549174 | 71549174 | G | A | rs7107929 | N | 5.08641414854e-06 | 0.576278 | downstream | DEFB108B | NB-4 | adipose tissue | |||||||||||
chr11 | 722202 | 722202 | G | C | rs9734804 | N | 5.42918066461e-14 | 0.302915 | intronic | EPS8L2 | EPS8-like 2 | SK-BR-3 | small intestine | ||||||||||
chr11 | 7686602 | 7686607 | GTGTTA | GTGTTTGTTA | N | 0.000685683102347 | frameshift substitution | CYB5R2 | NM_001302826 NM_016229 | 9,9 | 829,829 | cytochrome b5 reductase 2 | WM-115 | testis | |||||||||
chr11 | 7928108 | 7928108 | C | T | rs4758252 | N | 1.47925602323e-10 | 0.938898 | upstream | LOC283299 | |||||||||||||
chr11 | 7961931 | 7961931 | A | G | rs7942511 | N | 3.52634003775e-07 | 0.396765 | upstream | OR10A3 | A-431 | skin | |||||||||||
chr11 | 82959338 | 82959379 | TACACACACACACACACACACACACACACACACACACACACT | TACACACACACACACACACACACACACACACACACACT | D | 0.721347033978 | 3-UTR | ANKRD42 | NM_001300975 NM_182603 | ankyrin repeat domain 42 | U-2197 | testis | |||||||||||
chr11 | 82996986 | 82996986 | A | C | rs494791 | N | 0.486632794142 | 0.677716 | N | N | N | N | nonsynonymous SNV | CCDC90B | NM_021825 | 1 | 30 | 10 | F=>L | coiled-coil domain containing 90B | U-2197 | testis | |
chr11 | 840319 | 840319 | C | T | rs3059 | N | 0.247321531177 | 0.640974 | 3-UTR | POLR2L | NM_021128 | PC-3 | adipose tissue | ||||||||||
chr11 | 842627 | 842630 | TTCC | CTCT | N | 0.486632794142 | upstream | POLR2L TSPAN4 | |||||||||||||||
chr11 | 842682 | 842682 | A | G | rs9704919 | N | 0.00142984115519 | 0.645966 | upstream | POLR2L TSPAN4 | |||||||||||||
chr11 | 8496516 | 8496516 | G | A | rs2289923 | N | 7.02115926288e-07 | 0.546725 | 5-UTR | STK33 | NM_001289061 NM_030906 | serine/threonine kinase 33 | HEK-293 | testis | |||||||||
chr11 | 85522332 | 85522332 | G | A | rs2044392 | N | 0.258192300797 | 0.372604 | upstream | SYTL2 | synaptotagmin-like 2 | RH-30 | stomach | ||||||||||
chr11 | 8703973 | 8703975 | GCA | GCCA | N | 0.486632794142 | upstream | RPL27A | ribosomal protein L27A | HEK-293 | ovary | ||||||||||||
chr11 | 89946502 | 89946526 | CAAAAAAAAAAAAAAAAATCACCTT | CAAAAAAAAAAAAAAATCACCTT | D | 0.530489087105 | intronic | CHORDC1 | cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1 | CACO-2 | lymph node | ||||||||||||
chr11 | 9301445 | 9301445 | G | A | rs7358392 | N | 1.07072564788e-05 | 0.403954 | downstream | TMEM41B | transmembrane protein 41B | CAPAN-2 | duodenum | ||||||||||
chr11 | 9336321 | 9336321 | G | A | rs4420270 | N | 0.486632794142 | 0.540136 | upstream | TMEM41B | transmembrane protein 41B | CAPAN-2 | duodenum | ||||||||||
chr11 | 93861570 | 93861570 | C | T | rs72968791 | N | 0.0452775023878 | 0.0615016 | upstream | PANX1 | pannexin 1 | HaCaT | urinary bladder | ||||||||||
chr12 | 101779964 | 101779964 | T | C | rs4764794 | N | 1.34447430966e-08 | 0.891773 | 3-UTR | UTP20 | NM_014503 | UTP20, small subunit (SSU) processome component, homolog (yeast) | NTERA-2 | testis | |||||||||
chr12 | 101801695 | 101801695 | G | A | rs4764796 | N | 0.486632794142 | 0.484824 | upstream | ARL1 | RT-4 | thyroid gland | |||||||||||
chr12 | 101988774 | 101988774 | G | T | rs1697477 | N | 4.15089213002e-10 | 0.163738 | 5-UTR | MYBPC1 | NM_001254718 NM_001254719 NM_001254720 NM_001254721 NM_001254722 NM_001254723 NM_002465 NM_206819 NM_206820 NM_206821 | myosin binding protein C, slow-type | RT-4 | prostate | |||||||||
chr12 | 1022452 | 1022452 | C | T | rs1051669 | N | 5.08640914632e-06 | 0.254792 | 3-UTR | RAD52 | NM_001297421 NM_134424 NM_001297419 | RAD52 homolog (S. cerevisiae) | HDLM-2 | ovary | |||||||||
chr12 | 104124018 | 104124018 | A | C | rs17034433 | N | 0.000690446700901 | 0.0672923 | N | N | N | N | nonsynonymous SNV | STAB2 | NM_017564 | 49 | 5207 | 1736 | N=>T | stabilin 2 | BEWO | spleen | |
chr12 | 104235023 | 104235023 | A | C | rs11111809 | N | 0.486632794142 | 0.354633 | upstream | NT5DC3 | 5'-nucleotidase domain containing 3 | K-562 | bone marrow | ||||||||||
chr12 | 104237512 | 104237512 | T | C | rs1370784 | N | 1.61018233484e-05 | 0.355831 | downstream | TTC41P | |||||||||||||
chr12 | 104254932 | 104254932 | G | A | rs11111817 | N | 0.000268388917902 | 0.45607 | ncRNA | TTC41P | |||||||||||||
chr12 | 105260365 | 105260394 | TAAAAAAAAAAAAAAAAAGAGAGACAACAT | TAAAAAAAAAAAAAAAAGAGAGACAACAT | N | 0.000717563903891 | intronic | SLC41A2 | solute carrier family 41, member 2 | HDLM-2 | liver | ||||||||||||
chr12 | 105629865 | 105629865 | C | G | rs1196785 | N | 0.486632794142 | 0.630192 | 5-UTR | APPL2 | NM_001251904 NM_018171 | adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 | U-138-MG | colon | |||||||||
chr12 | 10704264 | 10704264 | A | G | rs10734837 | N | 3.99300326137e-09 | 0.893371 | intergenic | ||||||||||||||
chr12 | 108297673 | 108297673 | G | C | rs7980811 | N | 0.486632794142 | 0.260383 | upstream | LOC728739 | |||||||||||||
chr12 | 108676498 | 108676498 | A | C | rs10746122 | N | 8.91401796821e-09 | 0.788339 | intergenic | ||||||||||||||
chr12 | 108687449 | 108687476 | GAAAAAAAAAAAAAAAAAAGCAGCAATT | GAAAAAAAAAAAAAAAAAGCAGCAATT | N | 0.105125792325 | intronic | CMKLR1 | chemokine-like receptor 1 | RPMI-8226 | spleen | ||||||||||||
chr12 | 108687449 | 108687476 | GAAAAAAAAAAAAAAAAAAGCAGCAATT | GAAAAAAAAAAAAAAAAGCAGCAATT | N | 0.105125792325 | intronic | CMKLR1 | chemokine-like receptor 1 | RPMI-8226 | spleen | ||||||||||||
chr12 | 109458559 | 109458578 | ACCCCCCCCCACCCCCCTTG | ACCCCCCCCCCCACCCCCCTTG | N | 0.486632794142 | intronic | SVOP | SV2 related protein | SCLC-21H | cerebral cortex | ||||||||||||
chr12 | 110318261 | 110318261 | G | C | rs71458309 | N | 0.486632794142 | 0.242812 | 5-UTR | GLTP | NM_016433 | RT-4 | skin | ||||||||||
chr12 | 11201962 | 11201962 | T | C | rs2597987 | N | 6.09948225261e-09 | 0.971446 | ncRNA | PRH1-PRR4 | |||||||||||||
chr12 | 112599061 | 112599063 | TGC | TGCACTGGGGC | D | 0.941953122616 | 3-UTR | HECTD4 | NM_001109662 | NB-4 | bone marrow | ||||||||||||
chr12 | 11544524 | 11544531 | TTTTTCCA | TATTTCCCA | N | 0.147602662444 | 3-UTR | PRB2 | NM_006248 | CAPAN-2 | salivary gland | ||||||||||||
chr12 | 121341849 | 121341849 | A | G | rs2686458 | N | 0.0425739809871 | 0.960863 | 5-UTR | SPPL3 | NM_139015 | signal peptide peptidase 3 | RT-4 | testis | |||||||||
chr12 | 121600180 | 121600180 | C | T | rs208293 | N | 6.63656749111e-07 | 0.469249 | intronic | P2RX7 | purinergic receptor P2X, ligand-gated ion channel, 7 | Karpas-707 | cerebral cortex | ||||||||||
chr12 | 121600252 | 121600253 | GT | AC | N | 8.42917233967e-06 | nonframeshift substitution | P2RX7 | NM_002562 | 5 | 462 | purinergic receptor P2X, ligand-gated ion channel, 7 | Karpas-707 | cerebral cortex | |||||||||
chr12 | 121600252 | 121600253 | GT | GC | N | 8.42917233967e-06 | nonframeshift substitution | P2RX7 | NM_002562 | 5 | 462 | purinergic receptor P2X, ligand-gated ion channel, 7 | Karpas-707 | cerebral cortex | |||||||||
chr12 | 12223263 | 12223263 | G | C | rs1990699 | N | 0.000464497890789 | 0.279353 | upstream | BCL2L14 | BCL2-like 14 (apoptosis facilitator) | CAPAN-2 | duodenum | ||||||||||
chr12 | 124102656 | 124102656 | C | T | rs59126974 | N | 0.0769957825541 | 0.252196 | intronic | DDX55 | DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 | NB-4 | lymph node | ||||||||||
chr12 | 12442945 | 12442945 | C | T | rs2417180 | N | 4.01977917619e-09 | 0.995008 | intergenic | ||||||||||||||
chr12 | 126994913 | 126994913 | G | A | rs10847172 | N | 8.41377811867e-09 | 0.679113 | intergenic | ||||||||||||||
chr12 | 12763799 | 12763799 | C | A | rs7133523 | N | 5.15105682553e-08 | 0.876597 | upstream | CREBL2 | cAMP responsive element binding protein-like 2 | HDLM-2 | adrenal gland | ||||||||||
chr12 | 12870695 | 12870695 | T | C | rs34330 | N | 0.17358507216 | 0.661741 | 5-UTR | CDKN1B | NM_004064 | cyclin-dependent kinase inhibitor 1B | Karpas-707 | ovary | |||||||||
chr12 | 128900005 | 128900005 | G | A | rs1683723 | N | 0.000140343690873 | 0.510383 | N | N | N | N | nonsynonymous SNV | TMEM132C | NM_001136103 | 2 | 814 | 272 | V=>I | transmembrane protein 132C | Daudi | adipose tissue | |
chr12 | 129556884 | 129556885 | TG | CT | N | 0.00345166469924 | 3-UTR | TMEM132D | NM_133448 | transmembrane protein 132D | MOLT-4 | cerebral cortex | |||||||||||
chr12 | 130635355 | 130635355 | A | G | rs872353 | N | 1.00687831406e-08 | 0.648962 | downstream | FZD10-AS1 | |||||||||||||
chr12 | 130635422 | 130635436 | ACCCCCCCCCCAGCT | ACCCCCACAGCT | N | 0.000775733205955 | downstream | FZD10-AS1 | |||||||||||||||
chr12 | 130635460 | 130635460 | T | C | rs7134211 | N | 1.15230180953e-08 | 0.697484 | downstream | FZD10-AS1 | |||||||||||||
chr12 | 130647709 | 130647709 | G | C | rs10848026 | N | 4.13405985e-07 | 0.320088 | synonymous SNV | FZD10 | NM_007197 | 1 | 222 | 74 | L=>L | frizzled homolog 10 (Drosophila) | BEWO | esophagus | |||||
chr12 | 130899033 | 130899033 | C | A | rs10773780 | N | 1.63179247892e-08 | 0.585264 | intronic | RIMBP2 | RIMS binding protein 2 | SH-SY5Y | cerebral cortex | ||||||||||
chr12 | 130991286 | 130991286 | A | G | rs1464109 | N | 1.53446211293e-09 | 0.979633 | 5-UTR | RIMBP2 | NM_015347 | RIMS binding protein 2 | SH-SY5Y | cerebral cortex | |||||||||
chr12 | 131306314 | 131306314 | C | G | rs17564 | N | 5.05840716869e-07 | 0.604034 | N | N | N | N | nonsynonymous SNV | STX2 | NM_194356 NM_001980 | 3,3 | 125,125 | 42,42 | S=>T,S=>T | syntaxin 2 | U-87-MG | testis | |
chr12 | 133786506 | 133786506 | G | C | rs148542377 | N | 0.116887576878 | 0.82528 | intergenic | ||||||||||||||
chr12 | 14402744 | 14402744 | A | G | rs10772756 | N | 4.92684932851e-07 | 0.749401 | intergenic | ||||||||||||||
chr12 | 1609687 | 1609687 | G | A | rs10848498 | N | 1.70191960933e-05 | 0.343251 | ncRNA | LINC00942 | |||||||||||||
chr12 | 1675847 | 1675847 | G | A | rs73030956 | N | 0.486632794142 | 0.180511 | 3-UTR | FBXL14 | NM_152441 | Karpas-707 | testis | ||||||||||
chr12 | 18854540 | 18854591 | ATCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTCCA | ATCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTCCA | N | 0.107690580189 | intronic | PLCZ1 | phospholipase C, zeta 1 | NTERA-2 | testis | ||||||||||||
chr12 | 1906632 | 1906632 | G | A | rs61741336 | N | 0.0341082625091 | 0.00678914 | N | N | N | N | nonsynonymous SNV | CACNA2D4 | NM_172364 | 35 | 3065 | 1022 | P=>L | calcium channel, voltage-dependent, alpha 2/delta subunit 4 | HMC-1 | appendix | |
chr12 | 21654644 | 21654644 | C | A | rs1860947 | N | 0.0317620001733 | 0.867812 | upstream | GOLT1B RECQL | |||||||||||||
chr12 | 2851357 | 2851357 | C | T | rs10774059 | N | 5.49387035864e-10 | 0.743211 | intergenic | ||||||||||||||
chr12 | 2851563 | 2851563 | T | C | rs10774060 | N | 1.00991928775e-06 | 0.722444 | intergenic | ||||||||||||||
chr12 | 2851583 | 2851583 | G | C | rs10848697 | N | 2.66687010253e-07 | 0.675319 | intergenic | ||||||||||||||
chr12 | 2851603 | 2851603 | G | A | rs4635140 | N | 2.20419707375e-07 | 0.612021 | intergenic | ||||||||||||||
chr12 | 29688202 | 29688202 | T | C | rs299453 | N | 6.26791066966e-12 | 0.497204 | intronic | TMTC1 | transmembrane and tetratricopeptide repeat containing 1 | RH-30 | spleen | ||||||||||
chr12 | 30906875 | 30906875 | C | T | rs33255 | N | 0.00345011474565 | 1 | 5-UTR | CAPRIN2 | NM_001002259 NM_001206856 NM_001319842 NM_001319843 NM_023925 NM_032156 | caprin family member 2 | U-2197 | testis | |||||||||
chr12 | 32259367 | 32259367 | A | G | rs1151016 | N | 8.28669180919e-06 | 0.819888 | upstream | BICD1 | bicaudal D homolog 1 (Drosophila) | NTERA-2 | ovary | ||||||||||
chr12 | 3310335 | 3310335 | C | T | rs740777 | N | 8.63380080318e-07 | 0.29972 | intronic | TSPAN9 | tetraspanin 9 | RH-30 | heart muscle | ||||||||||
chr12 | 33138770 | 33138770 | C | T | rs12231850 | N | 8.98544203665e-06 | 0.234425 | intergenic | ||||||||||||||
chr12 | 37937774 | 37937774 | C | A | rs10880821 | N | 4.78787023894e-06 | 0.590256 | intergenic | ||||||||||||||
chr12 | 38556172 | 38556172 | G | A | rs10880645 | N | 5.48049683857e-06 | 0.292732 | intergenic | ||||||||||||||
chr12 | 40786987 | 40786987 | A | G | rs1427259 | N | 1.52948743448e-07 | 0.832468 | upstream | MUC19 | mucin 19 | ||||||||||||
chr12 | 42326739 | 42326739 | A | G | rs1234015 | N | 9.44439193518e-10 | 0.994409 | intergenic | ||||||||||||||
chr12 | 42538837 | 42538837 | T | C | rs10880253 | N | 0.486632794142 | 0.558107 | upstream | GXYLT1 | glucoside xylosyltransferase 1 | U-2-OS | testis | ||||||||||
chr12 | 42538847 | 42538847 | C | G | rs10880254 | N | 0.486632794142 | 0.547324 | upstream | GXYLT1 | glucoside xylosyltransferase 1 | U-2-OS | testis | ||||||||||
chr12 | 42878100 | 42878100 | C | G | rs1669917 | N | 2.3032194356e-24 | 0.829273 | intronic | PRICKLE1 | prickle homolog 1 (Drosophila) | NTERA-2 | spleen | ||||||||||
chr12 | 46121662 | 46121662 | T | A | rs888559 | N | 0.486632794142 | 0.986621 | ncRNA | LINC00938 | |||||||||||||
chr12 | 4735968 | 4735970 | AGA | CAG | N | 0.0032173236832 | nonframeshift substitution | AKAP3 | NM_001278309 NM_006422 | 5,5 | 2098,2098 | A kinase (PRKA) anchor protein 3 | NTERA-2 | testis | |||||||||
chr12 | 4736677 | 4736677 | G | C | rs11063266 | N | 1.06608109007e-08 | 0.911542 | N | N | N | N | nonsynonymous SNV | AKAP3 | NM_001278309 NM_006422 | 5,5 | 1391,1391 | 464,464 | T=>S,T=>S | A kinase (PRKA) anchor protein 3 | NTERA-2 | testis | |
chr12 | 49364391 | 49364391 | G | A | rs833843 | N | 4.10641576298e-10 | 0.387181 | intronic | WNT10B | wingless related MMTV integration site 10b | U-266/84 | cerebral cortex | ||||||||||
chr12 | 496439 | 496439 | A | T | rs7965303 | N | 3.01047020912e-05 | 0.649161 | N | D | intronic | KDM5A | lysine (K)-specific demethylase 5A | HDLM-2 | testis | ||||||||
chr12 | 50450828 | 50450828 | C | T | rs836185 | N | 3.4213167055e-06 | 0.927516 | upstream | ASIC1 | SH-SY5Y | cerebral cortex | |||||||||||
chr12 | 50855195 | 50855195 | A | G | rs4351895 | N | 0.000199224145035 | 0.566893 | 3-UTR | LARP4 | NM_001170804 | La ribonucleoprotein domain family, member 4 | CACO-2 | liver | |||||||||
chr12 | 5152949 | 5152949 | C | T | rs10744676 | N | 6.33434808606e-07 | 0.909545 | upstream | KCNA5 | potassium voltage-gated channel, shaker-related subfamily, member 5 | NTERA-2 | heart muscle | ||||||||||
chr12 | 52840036 | 52840036 | G | A | rs373992 | N | 4.13185262005e-05 | 0.517173 | downstream | KRT6B | keratin 6B | HaCaT | esophagus | ||||||||||
chr12 | 52845801 | 52845801 | T | C | rs428894 | N | 0.000100860183011 | N | N | N | N | nonsynonymous SNV | KRT6B | NM_005555 | 1 | 62 | 21 | N=>S | keratin 6B | HaCaT | esophagus | ||
chr12 | 53165940 | 53165940 | C | T | rs6580904 | N | 3.62458081327e-07 | 0.600839 | N | D | P | D | nonsynonymous SNV | KRT76 | NM_015848 | 5 | 1075,359 | 359 | A=>T | keratin 76 | HaCaT | skin | |
chr12 | 53189983 | 53189983 | A | G | rs1873648 | N | 1.61216338057e-08 | 0.828275 | upstream | KRT3 | HaCaT | esophagus | |||||||||||
chr12 | 550911 | 550934 | CTTTTTTTTTTTTTTTTTCAAACC | CTTTTTTTTTTTTTTTTCAAACC | D | 0.74551230669 | intronic | CCDC77 | coiled-coil domain containing 77 | NTERA-2 | testis | ||||||||||||
chr12 | 55250549 | 55250549 | T | G | rs10783685 | N | 0.000399395270506 | intronic | MUCL1 | SK-BR-3 | salivary gland | ||||||||||||
chr12 | 55758832 | 55758832 | T | C | rs7962135 | N | 1.7114318851e-08 | 0.850639 | upstream | OR6C75 | A-431 | adipose tissue | |||||||||||
chr12 | 55794264 | 55794264 | A | G | rs7967395 | N | 5.93325832909e-10 | 0.780551 | upstream | OR6C65 | A-431 | adipose tissue | |||||||||||
chr12 | 55886294 | 55886294 | G | A | rs7133698 | N | 1.29120550696e-07 | 0.623602 | N | N | N | N | nonsynonymous SNV | OR6C68 | NM_001005519 | 1 | 133,45 | 45 | A=>T | A-431 | adipose tissue | ||
chr12 | 57445892 | 57445914 | CAAAAAAAAAAAAAAAATTCTAG | CAAAAAAAAAAAAAAAAATTCTAG | N | 0.00440984778106 | intergenic | ||||||||||||||||
chr12 | 57977003 | 57977003 | C | T | rs775249 | N | 0.00528560159728 | 0.211462 | intronic | KIF5A | kinesin family member 5A | SCLC-21H | cerebral cortex | ||||||||||
chr12 | 58062667 | 58062667 | C | T | rs10876993 | N | 1.18386451504e-05 | 0.471046 | intergenic | ||||||||||||||
chr12 | 60127590 | 60127590 | A | T | rs2706309 | N | 0.000127201827127 | 0.433906 | intronic | SLC16A7 | solute carrier family 16 (monocarboxylic acid transporters), member 7 | RT-4 | heart muscle | ||||||||||
chr12 | 60169265 | 60169265 | G | A | rs12718000 | N | 0.0026862740051 | 0.131589 | intronic | SLC16A7 | solute carrier family 16 (monocarboxylic acid transporters), member 7 | RT-4 | heart muscle | ||||||||||
chr12 | 62261077 | 62261097 | GAAAAAAAAAACAGAAAAGCT | GAAAAAAAAAAACAGAAAAGCT | N | 0.0186092481017 | intronic | FAM19A2 | WM-115 | cerebral cortex | |||||||||||||
chr12 | 62729222 | 62729222 | G | C | rs2242032 | N | 0.003901373595 | 0.410343 | 3-UTR | USP15 | NM_001252079 | ubiquitin specific peptidase 15 | K-562 | bone marrow | |||||||||
chr12 | 6380272 | 6380272 | G | A | rs61918196 | N | 0.000170327999513 | 0.163738 | intergenic | ||||||||||||||
chr12 | 6562753 | 6562753 | A | G | rs2532501 | N | 7.43064724334e-12 | 0.6877 | N | N | N | N | nonsynonymous SNV | TAPBPL | NM_018009 | 3 | 436 | 146 | M=>V | CAPAN-2 | duodenum | ||
chr12 | 6572048 | 6572048 | A | G | rs1045452 | N | 5.83103065832e-10 | 0.730032 | 3-UTR | VAMP1 | NM_001297438 NM_014231 NM_199245 | U-698 | bone marrow | ||||||||||
chr12 | 65847960 | 65847968 | AGGGGGGCT | AGGGGGCT | N | 0.179154366255 | intronic | MSRB3 | methionine sulfoxide reductase B3 | U-937 | esophagus | ||||||||||||
chr12 | 66358079 | 66358082 | AAGG | AG | D | 0.996825575829 | 3-UTR | HMGA2 | NM_003483 | NTERA-2 | testis | ||||||||||||
chr12 | 69979517 | 69979517 | C | T | rs2601006 | N | 0.0053444118239 | 0.415935 | 5-UTR | CCT2 | NM_001198842 | chaperonin containing Tcp1, subunit 2 (beta) | U-698 | testis | |||||||||
chr12 | 70093206 | 70093206 | G | C | rs775431 | N | 1.47006407047e-10 | 0.666334 | upstream | BEST3 | bestrophin 3 | U-698 | cerebral cortex | ||||||||||
chr12 | 70320254 | 70320254 | A | G | rs1152964 | N | 1.89727834368e-05 | 0.235623 | intronic | MYRFL | NTERA-2 | duodenum | |||||||||||
chr12 | 7053362 | 7053362 | A | G | rs915997 | N | 0.486632794142 | 0.907149 | intronic | C12orf57 | NTERA-2 | ovary | |||||||||||
chr12 | 7649484 | 7649484 | T | C | rs4883263 | N | 4.39745854237e-05 | 0.76258 | N | N | N | N | nonsynonymous SNV | CD163 | NM_203416 NM_004244 | 5,5 | 1024,1024 | 342,342 | I=>V,I=>V | CD163 antigen | CACO-2 | appendix | |
chr12 | 80169497 | 80169549 | TAAAAAAAAAAAACAAAAAACAAACCAACAACAACAAAAACACCCCAGAAAAT | TAAAAAAAAAAACAAAAAACAAACCAACAACAACAAAAACACCCCAGAAAAT | D | 0.999910950661 | 3-UTR | PPP1R12A | NM_001143886 NM_001244992 NM_002480 NM_001143885 NM_001244990 | protein phosphatase 1, regulatory (inhibitor) subunit 12A | HEL | uterus | |||||||||||
chr12 | 88379566 | 88379566 | A | G | rs10858676 | N | 1.59991312733e-12 | 0.994209 | intronic | C12orf50 | SK-MEL-30 | testis | |||||||||||
chr12 | 93896765 | 93896769 | CGTGA | CA | D | 0.999999761581 | 3-UTR | MRPL42 | NM_014050 NM_172177 | mitochondrial ribosomal protein L42 | SCLC-21H | adrenal gland | |||||||||||
chr12 | 93897779 | 93897798 | CTTTTTTTTTTCTTATAATC | CTTTTTTTTTTTCTTATAATC | N | 0.428226619959 | downstream | MRPL42 | mitochondrial ribosomal protein L42 | SCLC-21H | adrenal gland | ||||||||||||
chr12 | 94671922 | 94671943 | CAAAAAAAACAAAACAAAATTC | CAAAAAAACAAAACAAAATTC | N | 0.0133595652878 | intronic | PLXNC1 | plexin C1 | U-266/70 | appendix | ||||||||||||
chr12 | 95775321 | 95775321 | G | T | rs2727667 | N | 4.0801328538e-08 | 0.74401 | intergenic | ||||||||||||||
chr12 | 974308 | 974313 | TCCCAT | TCCCCAT | N | 0.0738068893552 | frameshift substitution | WNK1 | NM_213655 | 9 | 2172 | WNK lysine deficient protein kinase 1 | HEL | kidney | |||||||||
chr12 | 9814782 | 9814782 | A | G | rs4439599 | N | 1.30517374686e-08 | 0.858626 | intergenic | ||||||||||||||
chr12 | 990912 | 990912 | A | C | rs956868 | N | 1.55514317157e-06 | 0.852835 | N | N | N | N | nonsynonymous SNV | WNK1 | NM_014823 NM_018979 NM_213655 NM_001184985 | 11,13,13,13 | 2425,3166,3922,3946 | 809,1056,1308,1316 | T=>P,T=>P,T=>P,T=>P | WNK lysine deficient protein kinase 1 | HEL | kidney | |
chr12 | 998365 | 998365 | G | T | rs12828016 | N | 4.44506840722e-05 | 0.417532 | N | N | N | N | nonsynonymous SNV | WNK1 | NM_014823 NM_018979 NM_213655 NM_001184985 | 19,21,21,21 | 4683,5424,6180,6204 | 1561,1808,2060,2068 | M=>I,M=>I,M=>I,M=>I | WNK lysine deficient protein kinase 1 | HEL | kidney | |
chr13 | 100548120 | 100548122 | CAT | CT | D | 0.87949937582 | ncRNA | LOC101927437 | |||||||||||||||
chr13 | 100548125 | 100548125 | G | T | rs112355223 | N | 4.11677392549e-05 | 0.143171 | ncRNA | LOC101927437 | |||||||||||||
chr13 | 108519247 | 108519270 | GGAGAGAGAGAGAGAGAGAGAGAC | GGAGAGAGAGAGAGAGAGAGAC | N | 0.000844558642711 | 5-UTR | FAM155A | NM_001080396 | family with sequence similarity 155, member A | SH-SY5Y | cerebral cortex | |||||||||||
chr13 | 111414418 | 111414418 | T | C | rs328791 | N | 1.48891345475e-07 | 0.980232 | intergenic | ||||||||||||||
chr13 | 111567531 | 111567531 | C | G | rs7331404 | N | 0.0121226254851 | 0.832867 | upstream | ANKRD10 | ankyrin repeat domain 10 | HDLM-2 | bone marrow | ||||||||||
chr13 | 111588967 | 111588967 | T | C | rs2391883 | N | 1.90291444824e-08 | 0.807508 | intergenic | ||||||||||||||
chr13 | 111747799 | 111747799 | A | G | rs4773322 | N | 6.01428837288e-11 | 0.941693 | upstream | LINC00368 | |||||||||||||
chr13 | 111766981 | 111766981 | A | C | rs7321389 | N | 0.000267971860012 | 0.595847 | ncRNA | ARHGEF7-AS2 | |||||||||||||
chr13 | 111767056 | 111767056 | G | T | rs9555770 | N | 0.486632794142 | 0.337859 | ncRNA | ARHGEF7-AS2 | |||||||||||||
chr13 | 114302293 | 114302293 | G | A | rs9577598 | D | 0.925638794899 | 0.474042 | downstream | ATP4B | ATPase, H+/K+ exchanging, beta polypeptide | SCLC-21H | stomach | ||||||||||
chr13 | 114302326 | 114302326 | A | G | rs7998172 | N | 0.00957035832107 | 0.488618 | downstream | ATP4B | ATPase, H+/K+ exchanging, beta polypeptide | SCLC-21H | stomach | ||||||||||
chr13 | 114587161 | 114587161 | T | G | rs7998869 | N | 4.61231781934e-11 | 0.848642 | upstream | LINC00454 | |||||||||||||
chr13 | 19319488 | 19319488 | T | A | N | 0.00522136641666 | intergenic | ||||||||||||||||
chr13 | 19319494 | 19319495 | GT | CC | N | 0.00454715592787 | intergenic | ||||||||||||||||
chr13 | 19319509 | 19319509 | C | T | N | 0.00244606402703 | intergenic | ||||||||||||||||
chr13 | 22057796 | 22057796 | G | A | rs2247123 | N | 2.8171984745e-09 | 0.972244 | intergenic | ||||||||||||||
chr13 | 26626121 | 26626138 | TCGCCCCGCCCGGCGCCA | TCGCCCGGCGCCA | N | 0.486632794142 | upstream | SHISA2 | shisa homolog 2 (Xenopus laevis) | RH-30 | thyroid gland | ||||||||||||
chr13 | 28551357 | 28551357 | C | G | rs7989004 | N | 0.00195175793488 | 0.204872 | downstream | URAD | BEWO | colon | |||||||||||
chr13 | 50159793 | 50159816 | CGCCCCGGCCCCGGCCCCGGCCGA | CGCCCCGGCCCCGGCCCCGGCCCCGGCCGA | N | 0.486632794142 | upstream | RCBTB1 | regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 | REH | thyroid gland | ||||||||||||
chr13 | 51796468 | 51796468 | T | C | rs7320388 | N | 0.00272935442626 | 1 | upstream | FAM124A | family with sequence similarity 124, member A | NTERA-2 | spleen | ||||||||||
chr13 | 71870076 | 71870076 | G | A | rs2325357 | N | 6.65691572976e-08 | 0.970847 | intergenic | ||||||||||||||
chr13 | 76112312 | 76112312 | C | T | rs7336498 | N | 0.486632794142 | 0.961661 | intronic | COMMD6 | COMM domain containing 6 | THP-1 | ovary | ||||||||||
chr13 | 79999433 | 79999433 | T | G | rs7338678 | N | 6.53956431051e-06 | 0.519569 | downstream | RBM26-AS1 | |||||||||||||
chr13 | 90015578 | 90015578 | A | G | rs2348563 | N | 2.89031437672e-11 | 0.78754 | intergenic | ||||||||||||||
chr13 | 98795631 | 98795631 | C | T | rs598590 | N | 0.000517726293765 | 0.614417 | 5-UTR | FARP1 | NM_001001715 NM_005766 | FERM, RhoGEF (Arhgef) and pleckstrin domain protein 1 (chondrocyte-derived) | Hep-G2 | thyroid gland | |||||||||
chr13 | 99104170 | 99104170 | C | T | rs3742134 | N | 0.486632794142 | 0.210863 | 3-UTR | STK24 | NM_003576 NM_001032296 NM_001286649 | serine/threonine kinase 24 | HDLM-2 | esophagus | |||||||||
chr14 | 101377736 | 101377736 | A | G | rs9324026 | N | 2.26746233238e-05 | 0.509984 | downstream | MIR370 | |||||||||||||
chr14 | 103010942 | 103010942 | C | G | rs10137876 | N | 0.486632794142 | 0.900359 | intergenic | ||||||||||||||
chr14 | 103375594 | 103375594 | T | A | rs4906271 | N | 1.04683241242e-11 | 0.976238 | 3-UTR | TRAF3 | NM_001199427 NM_003300 NM_145725 NM_145726 | TNF receptor-associated factor 3 | HDLM-2 | lymph node | |||||||||
chr14 | 103590772 | 103590772 | G | A | rs3759573 | N | 1.46456231745e-17 | 0.604633 | intergenic | ||||||||||||||
chr14 | 103851089 | 103851089 | A | C | rs10146340 | N | 5.29557624418e-08 | 0.966054 | upstream | MARK3 | MAP/microtubule affinity-regulating kinase 3 | U-266/84 | bone marrow | ||||||||||
chr14 | 105642138 | 105642138 | C | T | rs880616 | N | 5.85065995651e-10 | 0.614217 | 3-UTR | NUDT14 | NM_001318380 | HMC-1 | adipose tissue | ||||||||||
chr14 | 105952271 | 105952271 | A | G | rs8012089 | N | 4.47290367447e-05 | 0.84345 | upstream | CRIP1 | cysteine-rich protein 1 (intestinal) | A-549 | small intestine | ||||||||||
chr14 | 106088023 | 106088023 | T | C | rs6576119 | N | 2.23351264594e-07 | 0.860024 | downstream | MIR8071-1 MIR8071-2 | |||||||||||||
chr14 | 106092671 | 106092671 | G | A | rs28495737 | N | 6.5149430295e-10 | 0.85623 | intergenic | ||||||||||||||
chr14 | 106107071 | 106107071 | T | C | rs12898162 | N | 3.98252382183e-08 | 0.915535 | downstream | MIR8071-1 MIR8071-2 | |||||||||||||
chr14 | 106207725 | 106207725 | T | C | rs17841089 | N | 0.00107931543607 | 0.229034 | intergenic | ||||||||||||||
chr14 | 106348131 | 106348131 | A | G | rs3021115 | N | 1.0851603065e-06 | 0.75639 | intergenic | ||||||||||||||
chr14 | 106375463 | 106375463 | C | G | rs2854769 | N | 3.39281496053e-06 | 1 | intergenic | ||||||||||||||
chr14 | 106375482 | 106375484 | TAG | TG | D | 0.997243881226 | intergenic | ||||||||||||||||
chr14 | 106376856 | 106376858 | CCT | TCC | N | 0.136392831802 | intergenic | ||||||||||||||||
chr14 | 106376868 | 106376868 | A | G | rs112435109 | N | 0.116135880351 | intergenic | |||||||||||||||
chr14 | 106376878 | 106376880 | TGG | AGT | N | 0.152472496033 | intergenic | ||||||||||||||||
chr14 | 106721143 | 106721145 | ATA | ATTA | D | 0.605947971344 | intergenic | ||||||||||||||||
chr14 | 106721160 | 106721167 | GTTTGTTA | GTTGTTA | D | 0.727490305901 | intergenic | ||||||||||||||||
chr14 | 106785554 | 106785556 | ACT | AGCCT | N | 0.278172492981 | intergenic | ||||||||||||||||
chr14 | 106845002 | 106845002 | G | T | rs10129951 | N | 4.70161779731e-07 | 1 | intergenic | ||||||||||||||
chr14 | 106845035 | 106845037 | AAA | TAT | N | 0.0854988023639 | intergenic | ||||||||||||||||
chr14 | 106937467 | 106937469 | GCA | GCCA | N | 0.106639891863 | upstream | LINC00221 | |||||||||||||||
chr14 | 19600398 | 19600398 | T | G | rs3000540 | N | 1.82314225922e-18 | 0.913139 | intergenic | ||||||||||||||
chr14 | 21110026 | 21110026 | A | G | rs12586851 | N | 1.58227607017e-07 | 0.459864 | upstream | OR6S1 | HDLM-2 | spleen | |||||||||||
chr14 | 21169411 | 21169411 | G | A | rs7149524 | N | 1.08574727165e-06 | 0.762979 | downstream | RNASE4 | ribonuclease, RNase A family 4 | Hep-G2 | liver | ||||||||||
chr14 | 22573443 | 22573443 | C | T | rs4572291 | N | 8.27176481835e-05 | 0.228035 | intergenic | ||||||||||||||
chr14 | 22581071 | 22581071 | G | A | rs10130061 | N | 1.79970080505e-10 | 0.936502 | intergenic | ||||||||||||||
chr14 | 22958261 | 22958261 | T | C | rs227871 | N | 1.0648063542e-09 | 0.978834 | intergenic | ||||||||||||||
chr14 | 22975407 | 22975407 | G | C | rs226993 | N | 1.40548211958e-10 | 0.974641 | intergenic | ||||||||||||||
chr14 | 22988748 | 22988748 | G | A | rs227010 | N | 4.10683567755e-19 | 0.996406 | intergenic | ||||||||||||||
chr14 | 23005786 | 23005786 | A | C | rs1154156 | N | 2.4763673423e-07 | 0.777356 | intergenic | ||||||||||||||
chr14 | 23299009 | 23299013 | GCCGT | GCCCGT | N | 0.486632794142 | upstream | MRPL52 | mitochondrial ribosomal protein L52 | Hep-G2 | duodenum | ||||||||||||
chr14 | 24803956 | 24803956 | A | C | rs1124644 | N | 7.82183046021e-16 | 0.818291 | 5-UTR | ADCY4 | NM_001198568 | adenylate cyclase 4 | TIME | placenta | |||||||||
chr14 | 24883887 | 24883887 | G | A | rs8017377 | N | 5.12040628564e-07 | 0.244409 | N | N | N | N | nonsynonymous SNV | NYNRIN | NM_025081 | 9 | 2932,978 | 978 | A=>T | NYN domain and retroviral integrase containing | RT-4 | ovary | |
chr14 | 25736641 | 25736641 | G | T | rs7144269 | N | 7.33766091798e-06 | 0.476637 | intergenic | ||||||||||||||
chr14 | 25736652 | 25736652 | C | T | rs7145534 | N | 5.82176244279e-06 | 0.476637 | intergenic | ||||||||||||||
chr14 | 28314590 | 28314590 | C | G | rs12887474 | N | 0.00180865905713 | 0.298323 | intergenic | ||||||||||||||
chr14 | 28314915 | 28314915 | T | C | rs8021987 | N | 0.000410088687204 | 0.265974 | intergenic | ||||||||||||||
chr14 | 28314927 | 28314927 | G | C | rs8015916 | N | 0.0018084696494 | 0.298123 | intergenic | ||||||||||||||
chr14 | 29247047 | 29247066 | ATTTTTTTTTTTTTTAGAAC | ATTTTTTTTTTTTTAGAAC | D | 0.583061754704 | ncRNA | LINC01551 | |||||||||||||||
chr14 | 35032112 | 35032112 | C | T | rs13826 | N | 2.6640145645e-10 | 0.435903 | 3-UTR | SNX6 | NM_021249 NM_152233 | sorting nexin 6 | TIME | placenta | |||||||||
chr14 | 39653005 | 39653005 | C | T | rs67316582 | N | 2.29660654441e-05 | 0.339257 | downstream | PNN | pinin | Hep-G2 | bone marrow | ||||||||||
chr14 | 51348281 | 51348306 | CTTTTTTTTTTTTTTTTTAAACTTCC | CTTTTTTTTTTTTTTTTTTAAACTTCC | N | 0.0121213458478 | intronic | ABHD12B | BEWO | skin | |||||||||||||
chr14 | 51348281 | 51348306 | CTTTTTTTTTTTTTTTTTAAACTTCC | CTTTTTTTTTTTTTTTTTTTAAACTTCC | N | 0.0121213458478 | intronic | ABHD12B | BEWO | skin | |||||||||||||
chr14 | 65346950 | 65346950 | G | A | rs1951491 | N | 3.91092762584e-05 | 0.668131 | intergenic | ||||||||||||||
chr14 | 65346957 | 65346957 | G | T | rs1951490 | N | 8.95065022632e-05 | 0.668131 | intergenic | ||||||||||||||
chr14 | 73080618 | 73080618 | T | C | rs2803959 | N | 2.12015105992e-12 | 0.759385 | intergenic | ||||||||||||||
chr14 | 74399422 | 74399422 | C | G | rs2336548 | N | 7.29970633984e-06 | 0.501597 | downstream | FAM161B ZNF410 | |||||||||||||
chr14 | 75422302 | 75422302 | A | G | rs12885730 | N | 0.407353997231 | 0.99381 | 5-UTR | PGF | NM_001207012 NM_001293643 NM_002632 | placental growth factor | BEWO | placenta | |||||||||
chr14 | 76638586 | 76638586 | T | G | rs4903383 | N | 9.98676363828e-10 | 0.997804 | 3-UTR | GPATCH2L | NM_001322027 | CAPAN-2 | bone marrow | ||||||||||
chr14 | 76642757 | 76642757 | G | A | rs12437310 | N | 3.30743023369e-05 | 0.767971 | intronic | GPATCH2L | CAPAN-2 | bone marrow | |||||||||||
chr14 | 93686568 | 93686593 | CTTTTTTTTTTTTTTTTTTCCCTAAA | CTTTTTTTTTTTTTTTCCCTAAA | D | 0.517147243023 | intronic | UBR7 | ubiquitin protein ligase E3 component n-recognin 7 (putative) | MOLT-4 | testis | ||||||||||||
chr14 | 94857892 | 94857892 | C | G | rs2071275 | N | 1.4520855629e-08 | 0.66254 | upstream | SERPINA1 | Hep-G2 | liver | |||||||||||
chr14 | 96086843 | 96086844 | GA | AG | N | 0.00207338249311 | intergenic | ||||||||||||||||
chr14 | 96086855 | 96086857 | TGT | CGG | N | 0.000391972513171 | intergenic | ||||||||||||||||
chr15 | 100266779 | 100266779 | G | A | rs8034156 | N | 1.36849004351e-10 | 0.699281 | downstream | LYSMD4 | LysM, putative peptidoglycan-binding, domain containing 4 | HaCaT | skin | ||||||||||
chr15 | 100347024 | 100347024 | A | G | rs2458579 | D | 0.501221299171 | ncRNA | DNM1P46 | ||||||||||||||
chr15 | 100513372 | 100513382 | ACCTTCCTTCA | ACCTTCA | N | 0.131307810545 | 3-UTR | ADAMTS17 | NM_139057 | a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 17 | HEK-293 | testis | |||||||||||
chr15 | 101113700 | 101113719 | CTTTTTTTTTTTTTTGAAAA | CTTTTTTTTTTTTTTTGAAAA | D | 0.972981214523 | intronic | LINS1 | |||||||||||||||
chr15 | 102264304 | 102264304 | G | C | rs1143138 | N | 0.140379667282 | 0.458666 | N | N | N | nonsynonymous SNV | TARSL2 | NM_152334 | 1 | 287,96 | 96 | A=>G | threonyl-tRNA synthetase-like 2 | HEK-293 | cerebral cortex | ||
chr15 | 102291955 | 102291955 | G | A | rs397212 | N | 1.38164431007e-08 | 0.463458 | intergenic | ||||||||||||||
chr15 | 21931959 | 21931959 | C | G | rs8038596 | N | 3.21868185438e-07 | 0.629593 | downstream | LOC646214 | |||||||||||||
chr15 | 22483328 | 22483328 | T | C | rs550604 | N | 3.11409166898e-05 | 0.705871 | intergenic | ||||||||||||||
chr15 | 23042870 | 23042886 | CTTTTTTTTTTTTGAGA | CTTTTTTTTTTGAGA | N | 0.148495748639 | downstream | NIPA1 | non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human) | HDLM-2 | cerebral cortex | ||||||||||||
chr15 | 23115422 | 23115422 | T | C | rs3816074 | N | 3.77785402961e-09 | 0.483826 | upstream | LOC283683 | |||||||||||||
chr15 | 24451302 | 24451302 | A | G | rs11161415 | N | 3.2535790524e-06 | 0.751198 | intergenic | ||||||||||||||
chr15 | 26122618 | 26122618 | C | T | rs34451068 | N | 0.0139420684427 | 0.136382 | intergenic | ||||||||||||||
chr15 | 29412047 | 29412047 | C | T | rs11638181 | N | 2.82993198653e-07 | 0.648962 | downstream | FAM189A1 | family with sequence similarity 189, member A1 | HDLM-2 | cerebral cortex | ||||||||||
chr15 | 33595506 | 33595506 | A | C | rs2670949 | N | 1.77183025585e-07 | 0.822284 | downstream | LOC101928134 | |||||||||||||
chr15 | 35385434 | 35385434 | C | T | rs12916766 | N | 8.26489554129e-07 | 0.333866 | intergenic | ||||||||||||||
chr15 | 40601056 | 40601073 | GCTCTCCTCTCTCCTCCG | GCTCTCCTCCG | N | 0.0207275692374 | upstream | PLCB2 | phospholipase C, beta 2 | HMC-1 | spleen | ||||||||||||
chr15 | 40643043 | 40643084 | TCACACACACACACACACACACACACACACACACACACACAT | TCACACACACACACACACACACACACACACACACAT | N | 0.000329483300447 | upstream | PHGR1 | SCLC-21H | colon | |||||||||||||
chr15 | 40650296 | 40650296 | G | A | rs12901268 | N | 0.486632794142 | 0.00599042 | upstream | DISP2 | dispatched homolog 2 (Drosophila) | SCLC-21H | cerebral cortex | ||||||||||
chr15 | 40845302 | 40845302 | G | A | rs8042729 | N | 0.00505629042163 | 0.349441 | 3-UTR | C15orf57 | NM_001080791 NM_001080792 NM_052849 | HEL | lymph node | ||||||||||
chr15 | 42118123 | 42118123 | G | C | rs3179542 | N | 2.39311702899e-07 | 0.296126 | 3-UTR | MAPKBP1 | NM_001128608 NM_001265611 NM_014994 | mitogen-activated protein kinase binding protein 1 | HaCaT | testis | |||||||||
chr15 | 42265396 | 42265396 | G | T | rs72726040 | N | 0.00765493465587 | 0.125 | ncRNA | PLA2G4E-AS1 | |||||||||||||
chr15 | 44877800 | 44877829 | TAAAAAAAAAAAAAAAAAAAAAGACCGATG | TAAAAAAAAAAAAAAAAAAAAGACCGATG | D | 0.968203365803 | intronic | SPG11 | spastic paraplegia 11 | K-562 | skin | ||||||||||||
chr15 | 44877800 | 44877829 | TAAAAAAAAAAAAAAAAAAAAAGACCGATG | TAAAAAAAAAAAAAAAAAAAGACCGATG | D | 0.968203365803 | intronic | SPG11 | spastic paraplegia 11 | K-562 | skin | ||||||||||||
chr15 | 45983936 | 45983941 | GTTCTA | GTTCTTCTA | N | 0.00135528098326 | downstream | SQRDL | sulfide quinone reductase-like (yeast) | U-2197 | colon | ||||||||||||
chr15 | 49263951 | 49263951 | G | A | rs12324356 | N | 3.72997078557e-07 | 0.544329 | intergenic | ||||||||||||||
chr15 | 52640990 | 52641011 | TAAAAAAAAAAAAAGGTATAAT | TAAAAAAAAAAAAAAGGTATAAT | N | 0.267063766718 | intronic | MYO5A | myosin VA | Karpas-707 | cerebral cortex | ||||||||||||
chr15 | 59949770 | 59949770 | A | C | rs7163436 | N | 0.486632794142 | 0.998403 | upstream | GTF2A2 | general transcription factor II A, 2 | U-2-OS | testis | ||||||||||
chr15 | 62534495 | 62534497 | ATG | AG | N | 0.0163839645684 | downstream | GOLGA2P11 | |||||||||||||||
chr15 | 62534500 | 62534500 | T | G | rs4989098 | N | 1.67086545844e-05 | 0.491813 | downstream | GOLGA2P11 | |||||||||||||
chr15 | 63390608 | 63390608 | C | T | rs11071725 | N | 2.76114825448e-10 | 0.726837 | intergenic | ||||||||||||||
chr15 | 69715488 | 69715488 | C | T | rs7180624 | N | 3.31159144551e-09 | 0.987819 | intronic | KIF23 | kinesin family member 23 | RH-30 | bone marrow | ||||||||||
chr15 | 70078624 | 70078624 | T | C | rs305034 | N | 7.65081509257e-09 | 0.866014 | intergenic | ||||||||||||||
chr15 | 70340511 | 70340511 | G | A | rs3743309 | N | 8.33270730194e-10 | 0.725639 | 3-UTR | TLE3 | NM_001282982 NM_001282981 NM_001105192 NM_001282979 NM_001282980 NM_005078 NM_020908 | transducin-like enhancer of split 3, homolog of Drosophila E(spl) | U-266/70 | bone marrow | |||||||||
chr15 | 72070929 | 72070929 | G | A | rs7402189 | N | 5.26558267211e-07 | 0.824081 | 3-UTR | THSD4 | NM_024817 NM_001286429 | thrombospondin, type I, domain containing 4 | TIME | esophagus | |||||||||
chr15 | 73976917 | 73976925 | AGGGCGCCT | AGGGGCGCCT | N | 0.206558898091 | intronic | CD276 | U-2197 | placenta | |||||||||||||
chr15 | 75312715 | 75312715 | C | G | rs3812943 | N | 1.45834783325e-05 | 0.206669 | 3-UTR | SCAMP5 | NM_001178111 NM_001178112 NM_138967 | SCLC-21H | cerebral cortex | ||||||||||
chr15 | 76497999 | 76497999 | T | C | rs2456043 | N | 5.77665026924e-08 | 0.961661 | downstream | TMEM266 | |||||||||||||
chr15 | 78114116 | 78114116 | T | C | rs4886921 | N | 2.17123215407e-05 | 0.735024 | upstream | LINGO1 | leucine rich repeat and Ig domain containing 1 | NTERA-2 | cerebral cortex | ||||||||||
chr15 | 78186683 | 78186683 | G | C | rs4886536 | N | 1.35739292091e-05 | 0.796326 | intergenic | ||||||||||||||
chr15 | 78219278 | 78219278 | C | T | rs9920783 | N | 0.000306611473206 | 0.105631 | upstream | LOC645752 | |||||||||||||
chr15 | 78236929 | 78236929 | A | G | rs11072703 | N | 0.486632794142 | 0.766374 | intergenic | ||||||||||||||
chr15 | 78397349 | 78397355 | CTTTGGG | CTTGGG | N | 0.23698951304 | 3-UTR | CIB2 | NM_001271888 NM_001271889 NM_001301224 NM_006383 | calcium and integrin binding family member 2 | SH-SY5Y | small intestine | |||||||||||
chr15 | 78397349 | 78397355 | CTTTGGG | CTTGGT | N | 0.23698951304 | 3-UTR | CIB2 | NM_001271888 NM_001271889 NM_001301224 NM_006383 | calcium and integrin binding family member 2 | SH-SY5Y | small intestine | |||||||||||
chr15 | 78471320 | 78471320 | C | G | rs2868606 | N | 8.1803221974e-09 | 1 | intronic | ACSBG1 | acyl-CoA synthetase bubblegum family member 1 | NTERA-2 | cerebral cortex | ||||||||||
chr15 | 78790735 | 78790749 | TGGGGGGGGGGCGAT | TGGGGGGGGGCGAT | D | 0.975225627422 | 3-UTR | IREB2 | NM_001320941 NM_004136 NM_001320942 | iron responsive element binding protein 2 | U-266/84 | thyroid gland | |||||||||||
chr15 | 89173657 | 89173657 | A | T | rs3826038 | N | 5.89778448301e-10 | 0.749601 | 3-UTR | AEN | NM_022767 | apoptosis enhancing nuclease | NTERA-2 | gallbladder | |||||||||
chr15 | 89860350 | 89860350 | A | C | rs1061316 | N | 7.44538483559e-05 | 0.445887 | 3-UTR | FANCI | NM_001113378 NM_018193 | FANCONI ANEMIA, COMPLEMENTATION GROUP I | Fanconi anemia, complementation group I | HEL | testis | ||||||||
chr15 | 90624521 | 90624527 | GAAATAG | GAATAG | N | 0.168397068977 | 3-UTR | ZNF710 | NM_198526 | SK-BR-3 | pancreas | ||||||||||||
chr15 | 90809269 | 90809271 | CTG | CG | N | 0.486632794142 | intronic | NGRN | U-266/84 | cerebral cortex | |||||||||||||
chr15 | 90895564 | 90895564 | A | C | rs1869179 | N | 0.486632794142 | 0.689497 | 5-UTR | ZNF774 | NM_001004309 | CACO-2 | colon | ||||||||||
chr15 | 90931363 | 90931363 | C | T | rs2589940 | N | 0.486632794142 | 0.677716 | upstream | IQGAP1 | IQ motif containing GTPase activating protein 1 | RT-4 | colon | ||||||||||
chr15 | 93487854 | 93487854 | G | C | rs1320819 | N | 0.00010359891894 | 0.5627 | intronic | CHD2 | chromodomain helicase DNA binding protein 2 | SK-MEL-30 | bone marrow | ||||||||||
chr15 | 93588030 | 93588030 | T | C | rs1969589 | N | 6.29569626653e-07 | 0.772364 | 3-UTR | RGMA | NM_001166286 NM_001166288 NM_001166289 NM_001166283 NM_001166287 NM_020211 | RGM domain family, member A | NTERA-2 | cerebral cortex | |||||||||
chr15 | 94774711 | 94774713 | TAG | TAAG | N | 0.0930556952953 | intergenic | ||||||||||||||||
chr15 | 97326748 | 97326748 | G | T | rs12911590 | N | 1.05752395729e-09 | 0.57528 | 5-UTR | SPATA8 | NM_001304804 NM_001304805 NM_001304806 NM_173499 | U-2-OS | testis | ||||||||||
chr15 | 99192754 | 99192786 | CTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGG | CTTTTTTTTTTTTTTTGAGAAAGG | N | 0.00229244329967 | ncRNA | IRAIN | |||||||||||||||
chr16 | 1021266 | 1021266 | G | A | rs2432296 | N | 0.252348601818 | 0.522364 | upstream | LMF1 | RPMI-8226 | pancreas | |||||||||||
chr16 | 11036624 | 11036624 | A | G | rs3087876 | N | 0.0138893304393 | 0.554912 | upstream | DEXI | dexamethasone-induced transcript | Hep-G2 | adrenal gland | ||||||||||
chr16 | 1116220 | 1116227 | TGGGGGAC | TGGGGGGAC | N | 0.000107412844955 | ncRNA | SSTR5-AS1 | |||||||||||||||
chr16 | 1116445 | 1116445 | A | G | rs530518 | N | 4.37768155059e-10 | 0.963259 | ncRNA | SSTR5-AS1 | |||||||||||||
chr16 | 1129872 | 1129872 | C | T | rs169068 | N | 1.16559722301e-05 | 0.518171 | N | N | N | N | nonsynonymous SNV | SSTR5 | NM_001053 NM_001172560 | 1,2 | 1004,1004 | 335,335 | P=>L,P=>L | somatostatin receptor 5 | PC-3 | adrenal gland | |
chr16 | 1131181 | 1131181 | C | T | rs12599155 | N | 3.88031594412e-06 | 0.41873 | 3-UTR | SSTR5 | NM_001172560 NM_001053 | somatostatin receptor 5 | PC-3 | adrenal gland | |||||||||
chr16 | 1161148 | 1161148 | C | T | rs2729584 | N | 0.000917763682082 | 0.25619 | intergenic | ||||||||||||||
chr16 | 12009530 | 12009563 | CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCA | CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCA | N | 0.486632794142 | nonframeshift substitution | GSPT1 | NM_002094 NM_001130006 | 1,1 | 15,15 | G1 to S phase transition 1 | SiHa | testis | |||||||||
chr16 | 12664063 | 12664063 | G | A | rs890894 | N | 2.01968894942e-08 | 0.533946 | 3-UTR | SNX29 | NM_032167 | sorting nexin 29 | U-266/84 | kidney | |||||||||
chr16 | 1358608 | 1358629 | ATGAGGGAGGGAGGGAATTAGT | AT | N | 0.0845147147775 | upstream | UBE2I | ubiquitin-conjugating enzyme E2I | REH | ovary | ||||||||||||
chr16 | 1377420 | 1377420 | C | T | rs113064632 | N | 9.42664883041e-06 | 0.034345 | downstream | UBE2I | ubiquitin-conjugating enzyme E2I | REH | ovary | ||||||||||
chr16 | 1391871 | 1391871 | C | G | rs2369699 | N | 3.89591967576e-08 | 0.583067 | intronic | BAIAP3 | BAI1-associated protein 3 | CAPAN-2 | adrenal gland | ||||||||||
chr16 | 1414498 | 1414498 | C | T | rs3826051 | N | 5.77800019528e-05 | 0.326078 | 3-UTR | UNKL | NM_001193389 NM_001276414 NM_001193388 | unkempt-like (Drosophila) | HeLa | spleen | |||||||||
chr16 | 14402265 | 14402265 | T | C | rs30231 | N | 5.1282715433e-24 | 0.757788 | ncRNA | MIR193BHG | |||||||||||||
chr16 | 1484325 | 1484325 | C | G | N | 0.000140707736136 | 0.00159744 | downstream | CCDC154 | coiled-coil domain containing 154 | SCLC-21H | testis | |||||||||||
chr16 | 1484348 | 1484348 | T | G | rs7196951 | N | 8.42815134092e-05 | 0.188698 | downstream | CCDC154 | coiled-coil domain containing 154 | SCLC-21H | testis | ||||||||||
chr16 | 1484385 | 1484385 | C | A | rs78398531 | N | 6.98506482877e-05 | 0.125599 | downstream | CCDC154 | coiled-coil domain containing 154 | SCLC-21H | testis | ||||||||||
chr16 | 1485243 | 1485243 | A | G | rs9927318 | N | 0.000611219147686 | 0.226637 | intronic | CCDC154 | coiled-coil domain containing 154 | SCLC-21H | testis | ||||||||||
chr16 | 1485255 | 1485255 | A | G | rs9927323 | N | 0.000785862153862 | 0.220647 | intronic | CCDC154 | coiled-coil domain containing 154 | SCLC-21H | testis | ||||||||||
chr16 | 15068908 | 15068908 | C | G | rs28418438 | N | 0.486632794142 | 0.429313 | 5-UTR | PDXDC1 | NM_001285450 NM_001285444 NM_001285445 NM_001324019 NM_015027 NM_001285449 NM_001324020 NM_001324021 | pyridoxal-dependent decarboxylase domain containing 1 | HMC-1 | testis | |||||||||
chr16 | 15111218 | 15111218 | C | T | rs4985162 | N | 0.435912489891 | N | N | N | N | nonsynonymous SNV | PDXDC1 | NM_001285450 NM_001285447 NM_001285448 NM_001285445 NM_015027 NM_001285449 NM_001285444 | 10,11,10,10,11,11,10 | 833,857,629,818,902,902,821 | 278,286,210,273,301,301,274 | P=>L,P=>L,P=>L,P=>L,P=>L,P=>L,P=>L | pyridoxal-dependent decarboxylase domain containing 1 | HMC-1 | testis | ||
chr16 | 15132108 | 15132108 | A | G | rs2740 | N | 0.00635829335079 | 0.339856 | 3-UTR | PDXDC1 | NM_001285447 NM_001285448 NM_001285444 NM_001285445 NM_001324019 NM_015027 | pyridoxal-dependent decarboxylase domain containing 1 | HMC-1 | testis | |||||||||
chr16 | 15198405 | 15198407 | GTG | ATT | N | 0.000188499208889 | ncRNA | PKD1P6-NPIPP1 | |||||||||||||||
chr16 | 15818310 | 15818310 | G | A | rs11130 | N | 7.51396498799e-07 | 0.504992 | 3-UTR | NDE1 | NM_001143979 NM_017668 | Karpas-707 | lymph node | ||||||||||
chr16 | 1583634 | 1583634 | T | C | rs8048206 | N | 0.486632794142 | 0.23762 | intronic | IFT140 TMEM204 | |||||||||||||
chr16 | 15876448 | 15876448 | T | G | N | 1.45490419712e-09 | 0.00139776 | intronic | MYH11 | myosin, heavy polypeptide 11, smooth muscle | U-698 | esophagus | |||||||||||
chr16 | 1592087 | 1592087 | T | C | rs2076444 | N | 4.43311091658e-06 | 0.33746 | intronic | IFT140 TMEM204 | |||||||||||||
chr16 | 16232201 | 16232214 | GTTTTTTTCTTCCG | GTTTTTTCTTCCG | D | 0.550979316235 | intronic | ABCC1 | ATP-binding cassette, sub-family C (CFTR/MRP), member 1 | A-549 | testis | ||||||||||||
chr16 | 16730375 | 16730375 | T | A | rs1380142 | N | 7.2838122378e-07 | 0.620607 | intergenic | ||||||||||||||
chr16 | 17047354 | 17047354 | G | A | rs74867405 | N | 2.01825150725e-05 | 0.0251597 | intergenic | ||||||||||||||
chr16 | 17432427 | 17432427 | T | C | rs4782002 | N | 8.62941669766e-05 | 0.34385 | intronic | XYLT1 | xylosyltransferase 1 | U-2197 | cerebral cortex | ||||||||||
chr16 | 17564658 | 17564658 | G | C | rs117041807 | N | 0.486632794142 | 0.0814696 | 5-UTR | XYLT1 | NM_022166 | xylosyltransferase 1 | U-2197 | cerebral cortex | |||||||||
chr16 | 1821146 | 1821146 | G | A | rs200014489 | N | 0.0139602124691 | 0.00698882 | synonymous SNV | NME3 | NM_002513 | 3 | 204 | 68 | H=>H | NME/NM23 nucleoside diphosphate kinase 3 | HEK-293 | prostate | |||||
chr16 | 1822159 | 1822159 | T | C | rs2269123 | N | 0.000988146755844 | 0.148962 | 3-UTR | MRPS34 | NM_001300900 NM_023936 | mitochondrial ribosomal protein S34 | HEK-293 | duodenum | |||||||||
chr16 | 1823024 | 1823024 | G | T | rs11552431 | N | 0.486632794142 | 0.145966 | D | N | N | N | nonsynonymous SNV | MRPS34 | NM_023936 NM_001300900 | 1,1 | 97,97 | 33,33 | L=>I,L=>I | mitochondrial ribosomal protein S34 | HEK-293 | duodenum | |
chr16 | 1844733 | 1844733 | A | G | rs34679887 | N | 0.0010336805135 | 0.0435304 | upstream | IGFALS | ACID-LABILE SUBUNIT DEFICIENCY | insulin-like growth factor binding protein, acid labile subunit | Hep-G2 | liver | |||||||||
chr16 | 1859150 | 1859153 | GAAT | AAAC | N | 0.00188325403724 | 3-UTR | HAGH | NM_001040427 NM_001286249 NM_005326 | hydroxyacyl glutathione hydrolase | EFO-21 | liver | |||||||||||
chr16 | 1876949 | 1876949 | G | C | rs7188401 | N | 0.486632794142 | 0.39397 | 5-UTR | HAGH | NM_001040427 NM_001286249 NM_005326 | hydroxyacyl glutathione hydrolase | EFO-21 | liver | |||||||||
chr16 | 188614 | 188617 | ACGC | AG | N | 0.486632794142 | 5-UTR | NPRL3 | NM_001039476 NM_001243248 NM_001243249 | nitrogen permease regulator-like 3 | MCF-7 | ovary | |||||||||||
chr16 | 19315621 | 19315621 | C | G | rs16971804 | N | 1.06441148091e-05 | 0.307109 | intronic | CLEC19A | |||||||||||||
chr16 | 19619602 | 19619623 | CTTTTTTTTTTTTTTGGTCTGA | CTTTTTTTTTTTTTTTGGTCTGA | D | 0.997928500175 | intronic | C16orf62 | EFO-21 | testis | |||||||||||||
chr16 | 19619602 | 19619623 | CTTTTTTTTTTTTTTGGTCTGA | CTTTTTTTTTTTTTTTTGGTCTGA | D | 0.997928500175 | intronic | C16orf62 | EFO-21 | testis | |||||||||||||
chr16 | 1969214 | 1969214 | T | C | N | 0.00302076432854 | 0.00299521 | upstream | HS3ST6 | heparan sulfate (glucosamine) 3-O-sulfotransferase 6 | A-549 | skin | |||||||||||
chr16 | 19868687 | 19868687 | G | C | rs2729 | N | 3.56496429599e-12 | 0.98762 | 3-UTR | IQCK | NM_001305121 NM_001305122 NM_153208 | IQ motif containing K | MCF-7 | thyroid gland | |||||||||
chr16 | 2034137 | 2034137 | C | T | rs56119017 | N | 0.486632794142 | 0.136382 | upstream | GFER | growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration) | SK-BR-3 | small intestine | ||||||||||
chr16 | 20361087 | 20361089 | TTC | TTCTGCCAGATC | N | 0.0185112785548 | intronic | UMOD | uromodulin | EFO-21 | kidney | ||||||||||||
chr16 | 20430769 | 20430769 | C | T | rs77322809 | N | 5.79893203394e-05 | 0.00958466 | 3-UTR | ACSM5 | NM_001324373 | acyl-CoA synthetase medium-chain family member 5 | U-87-MG | liver | |||||||||
chr16 | 2049882 | 2049899 | GTCCTCCTCCTCCTCCTG | GTCCTCCTCCTCCTCCTCCTG | D | 0.997363984585 | nonframeshift substitution | ZNF598 | NM_178167 | 11 | 1651 | HEK-293 | spleen | ||||||||||
chr16 | 2050192 | 2050192 | G | T | rs11556528 | N | 3.55705628863e-06 | 0.126997 | N | D | P | N | nonsynonymous SNV | ZNF598 | NM_178167 | 11 | 1358 | 453 | S=>Y | HEK-293 | spleen | ||
chr16 | 2069750 | 2069750 | A | C | N | 0.00576127879322 | 5-UTR | NPW | NM_001099456 | SCLC-21H | liver | ||||||||||||
chr16 | 21289626 | 21289626 | C | G | rs3848259 | N | 0.486632794142 | 0.102236 | 5-UTR | CRYM | NM_001888 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC | crystallin, mu | HEL | heart muscle | ||||||||
chr16 | 2144182 | 2144182 | G | A | rs45478794 | N | 1.98013808017e-07 | 0.0383387 | D | P | N | N | nonsynonymous SNV | PKD1 | NM_000296 NM_001009944 | 35,35 | 10526,10529 | 3509,3510 | T=>M,T=>M | POLYCYSTIC KIDNEY DISEASE 1 | polycystic kidney disease 1 homolog | HeLa | skin |
chr16 | 2213760 | 2213762 | GTG | GTTG | N | 1.91643412109e-05 | intronic | TRAF7 | TNF receptor-associated factor 7 | MCF-7 | duodenum | ||||||||||||
chr16 | 22345191 | 22345191 | G | A | rs7764 | N | 0.00202640821226 | 0.448882 | 3-UTR | POLR3E | NM_001258033 NM_001258034 NM_001258035 NM_001258036 NM_018119 | polymerase (RNA) III (DNA directed) polypeptide E | Hep-G2 | skin | |||||||||
chr16 | 22346882 | 22346913 | GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC | GGAGAGAGAGAGAGAGAGAGAGAGAGAGAC | N | 0.00746274413541 | downstream | POLR3E | polymerase (RNA) III (DNA directed) polypeptide E | Hep-G2 | skin | ||||||||||||
chr16 | 23079353 | 23079353 | T | C | rs8047644 | N | 2.14462531067e-10 | 0.889177 | 3-UTR | USP31 | NM_020718 | ubiquitin specific peptidase 31 | RT-4 | testis | |||||||||
chr16 | 231167 | 231167 | C | T | rs3929997 | D | 0.552061498165 | 0.034345 | 3-UTR | HBQ1 | NM_005331 | K-562 | bone marrow | ||||||||||
chr16 | 231486 | 231486 | C | G | rs143741293 | N | 0.486632794142 | 0.0175719 | downstream | HBQ1 | K-562 | bone marrow | |||||||||||
chr16 | 23160800 | 23160800 | G | C | rs373063806 | N | 0.486632794142 | 0.00139776 | upstream | USP31 | ubiquitin specific peptidase 31 | RT-4 | testis | ||||||||||
chr16 | 23193865 | 23193865 | A | G | rs5718 | N | 0.486632794142 | 0.66873 | upstream | SCNN1G | LIDDLE SYNDROME | sodium channel, nonvoltage-gated 1 gamma | RT-4 | kidney | |||||||||
chr16 | 23607892 | 23607892 | G | A | rs460186 | N | 0.0276801940054 | 0.141573 | upstream | NDUFAB1 | Hep-G2 | heart muscle | |||||||||||
chr16 | 23646191 | 23646191 | T | C | rs152451 | N | 0.0579698197544 | 0.150759 | N | N | N | N | nonsynonymous SNV | PALB2 | NM_024675 | 4 | 1676 | 559 | Q=>R | BREAST CANCER, SUSCEPTIBILITY TO | partner and localizer of BRCA2 | NTERA-2 | testis |
chr16 | 23701538 | 23701538 | A | G | rs27770 | N | 0.000703283702023 | 0.234425 | 3-UTR | PLK1 | NM_005030 | polo-like kinase 1 | Hep-G2 | lymph node | |||||||||
chr16 | 23711925 | 23711925 | C | G | rs26764 | N | 4.61009176433e-06 | 0.434704 | N | N | N | N | nonsynonymous SNV | ERN2 | NM_033266 NM_001308220 | 13,12 | 1460,1304 | 487,435 | S=>T,S=>T | endoplasmic reticulum (ER) to nucleus signalling 2 | CAPAN-2 | stomach | |
chr16 | 24202786 | 24202786 | T | A | rs198146 | N | 7.98105520516e-06 | 0.436901 | intronic | PRKCB | protein kinase C, beta | K-562 | cerebral cortex | ||||||||||
chr16 | 24231449 | 24231449 | C | T | rs424741 | N | 0.000348571687937 | 0.0351438 | 3-UTR | PRKCB | NM_002738 NM_212535 | protein kinase C, beta | K-562 | cerebral cortex | |||||||||
chr16 | 24564879 | 24564898 | GTATATATATATATATATTC | GTATATATATATATATTC | D | 0.83414876461 | intronic | RBBP6 | retinoblastoma binding protein 6 | REH | bone marrow | ||||||||||||
chr16 | 25069545 | 25069545 | T | C | rs10852280 | N | 9.96911211359e-08 | 0.805312 | intergenic | ||||||||||||||
chr16 | 2510603 | 2510603 | C | T | rs4786284 | N | 0.000271676806733 | 0.690695 | intronic | C16orf59 | REH | testis | |||||||||||
chr16 | 2512542 | 2512542 | G | C | rs72768722 | N | 0.000376281677745 | 0.013778 | intronic | C16orf59 | REH | testis | |||||||||||
chr16 | 25703137 | 25703144 | TGGGGGCT | TGGGGGGCT | N | 0.000532311969437 | upstream | HS3ST4 | heparan sulfate (glucosamine) 3-O-sulfotransferase 4 | NTERA-2 | cerebral cortex | ||||||||||||
chr16 | 25703477 | 25703502 | AGGGGGGGGCGGTGGTGGGGGGGCCA | AGGGGGGGCGGTGGTGGGGGGGCCA | D | 0.531572878361 | 5-UTR | HS3ST4 | NM_006040 | heparan sulfate (glucosamine) 3-O-sulfotransferase 4 | NTERA-2 | cerebral cortex | |||||||||||
chr16 | 2642822 | 2642822 | C | T | rs72768734 | N | 0.0056894691661 | 0.0111821 | intronic | PDPK1 | 3-phosphoinositide dependent protein kinase 1 | REH | cerebral cortex | ||||||||||
chr16 | 2821573 | 2821573 | C | T | rs8017 | N | 4.14960774076e-11 | 0.413738 | N | N | N | nonsynonymous SNV | TCEB2 | NM_207013 | 5 | 386 | 129 | S=>N | MCF-7 | heart muscle | |||
chr16 | 2821763 | 2821763 | C | G | rs1058855 | N | 0.058036532253 | 0.290735 | 3-UTR | TCEB2 | NM_007108 | MCF-7 | heart muscle | ||||||||||
chr16 | 2834826 | 2834826 | A | G | rs12931183 | N | 3.66838469323e-11 | 0.599042 | intronic | PRSS33 | SK-MEL-30 | salivary gland | |||||||||||
chr16 | 2837592 | 2837592 | T | G | rs34341809 | N | 1.14784826089e-09 | 0.521965 | upstream | PRSS33 | SK-MEL-30 | salivary gland | |||||||||||
chr16 | 2837603 | 2837603 | C | T | rs11076829 | N | 1.04745467855e-09 | 0.493211 | upstream | PRSS33 | SK-MEL-30 | salivary gland | |||||||||||
chr16 | 2871121 | 2871121 | T | C | rs11076844 | N | 3.57456499955e-08 | 0.726637 | intronic | PRSS21 | protease, serine, 21 | U-698 | testis | ||||||||||
chr16 | 2879279 | 2879279 | T | C | rs4785908 | N | 1.22710060115e-16 | 0.71885 | upstream | ZG16B | MCF-7 | salivary gland | |||||||||||
chr16 | 2892961 | 2892961 | A | G | rs17659759 | N | 0.000442391523393 | 0.0974441 | upstream | PRSS30P | |||||||||||||
chr16 | 28979263 | 28979263 | A | G | rs12934960 | N | 0.00011539922707 | 0.301717 | intergenic | ||||||||||||||
chr16 | 2902431 | 2902431 | A | G | rs7186326 | N | 2.31457131239e-10 | 0.516773 | downstream | PRSS22 | protease, serine, 22 | CAPAN-2 | esophagus | ||||||||||
chr16 | 2917807 | 2917807 | T | G | rs875177 | N | 0.000176118148374 | 0.796925 | intergenic | ||||||||||||||
chr16 | 2932431 | 2932431 | C | G | rs6500686 | N | 1.67587836586e-06 | 0.797724 | upstream | FLYWCH2 | FLYWCH family member 2 | MCF-7 | spleen | ||||||||||
chr16 | 29823342 | 29823342 | T | C | rs8054524 | N | 0.0136215332896 | 0.991414 | upstream,downstream | PRRT2;MAZ | |||||||||||||
chr16 | 29826538 | 29826538 | T | C | rs10204 | N | 9.01963052857e-12 | 0.78155 | 3-UTR | PRRT2 | NM_001256442 NM_001256443 NM_145239 | REH | cerebral cortex | ||||||||||
chr16 | 30004237 | 30004237 | G | A | D | 0.999479472637 | 0.000199681 | 3-UTR | HIRIP3 | NM_001197323 NM_003609 | HIRA interacting protein 3 | REH | testis | ||||||||||
chr16 | 30034524 | 30034524 | T | C | rs4788213 | N | 3.55377665073e-08 | 0.440695 | upstream | C16orf92 | SCLC-21H | testis | |||||||||||
chr16 | 30048553 | 30048553 | C | T | rs35467921 | N | 5.06191042859e-07 | 0.223243 | intergenic | ||||||||||||||
chr16 | 3005242 | 3005242 | G | A | rs190494475 | N | 0.000157392409164 | intergenic | |||||||||||||||
chr16 | 30075255 | 30075255 | C | T | N | 0.0342299677432 | 0.000199681 | 5-UTR | ALDOA | NM_000034 | aldolase A, fructose-bisphosphate | MCF-7 | heart muscle | ||||||||||
chr16 | 3051123 | 3051123 | T | C | rs1859378 | N | 2.58316978918e-10 | 0.709265 | downstream | LOC101929613 | |||||||||||||
chr16 | 3062553 | 3062553 | A | G | rs2231605 | N | 1.51296128403e-10 | 0.991414 | 5-UTR | CLDN9 | NM_020982 | MCF-7 | pancreas | ||||||||||
chr16 | 30960507 | 30960507 | T | C | rs4889582 | N | 0.019414646551 | 0.98742 | 5-UTR | ORAI3 | NM_152288 | ORAI calcium release-activated calcium modulator 3 | U-266/70 | prostate | |||||||||
chr16 | 313406 | 313406 | A | G | rs7189326 | N | 0.0119034638628 | 0.400958 | intronic | FAM234A | |||||||||||||
chr16 | 31404467 | 31404467 | T | G | rs8050328 | N | 3.0379214877e-07 | 0.50599 | upstream | ITGAD | integrin, alpha D | NB-4 | spleen | ||||||||||
chr16 | 3140653 | 3140653 | A | C | N | 5.1345580232e-07 | 0.00139776 | intronic | ZSCAN10 | zinc finger and SCAN domain containing 10 | NTERA-2 | bone marrow | |||||||||||
chr16 | 3174545 | 3174545 | A | G | rs443540 | N | 0.151759624481 | 0.764577 | downstream | ZNF213-AS1 | |||||||||||||
chr16 | 3192651 | 3192651 | T | C | rs1053996 | N | 3.2527033909e-05 | 0.352636 | 3-UTR | ZNF213 | NM_004220 NM_001134655 | MCF-7 | testis | ||||||||||
chr16 | 319725 | 319725 | T | C | rs740000 | N | 4.27021541327e-06 | 0.339856 | intronic | RGS11 | regulator of G-protein signaling 11 | SCLC-21H | cerebral cortex | ||||||||||
chr16 | 3200881 | 3200881 | C | G | rs2238386 | N | 0.486632794142 | 0.263978 | downstream | CASP16P | |||||||||||||
chr16 | 320759 | 320759 | C | T | rs9806942 | N | 3.62967966794e-07 | 0.148163 | D | D | D | N | nonsynonymous SNV | RGS11 | NM_003834 NM_001286486 NM_183337 NM_001286485 | 14,12,14,13 | 988,499,1051,1018 | 330,167,351,340 | V=>M,V=>M,V=>M,V=>M | regulator of G-protein signaling 11 | SCLC-21H | cerebral cortex | |
chr16 | 3219987 | 3220011 | TTTTGTTTGTTTGTTTGTTTTTGAG | TTTTGTTTGTTTGTTTGTTTGTTTTTGAG | N | 0.476261109114 | intergenic | ||||||||||||||||
chr16 | 322934 | 322934 | C | T | rs9940585 | N | 3.05489811581e-05 | 0.551917 | intronic | RGS11 | regulator of G-protein signaling 11 | SCLC-21H | cerebral cortex | ||||||||||
chr16 | 3240254 | 3240254 | T | C | rs412836 | N | 2.98056685161e-15 | 0.991214 | intergenic | ||||||||||||||
chr16 | 324030 | 324038 | TGGGGGGTC | TGGGGGGGTC | N | 0.000109447413706 | intronic | RGS11 | regulator of G-protein signaling 11 | SCLC-21H | cerebral cortex | ||||||||||||
chr16 | 3254470 | 3254470 | T | C | rs1834026 | N | 2.18713867071e-05 | 0.431909 | N | N | N | N | nonsynonymous SNV | OR1F1 | NM_012360 | 1 | 224 | 75 | F=>S | THP-1 | testis | ||
chr16 | 326174 | 326174 | G | A | rs12921293 | N | 0.00692947767675 | upstream | RGS11 | regulator of G-protein signaling 11 | SCLC-21H | cerebral cortex | |||||||||||
chr16 | 3265428 | 3265428 | G | C | rs579134 | N | 9.11498253178e-14 | 0.723442 | upstream | OR1F2P | |||||||||||||
chr16 | 3266071 | 3266071 | A | G | rs2550401 | N | 9.83392993703e-08 | 0.445487 | ncRNA | OR1F2P | |||||||||||||
chr16 | 3294154 | 3294173 | GTTTTTTTTTTTGTCTTCTA | GTTTTTTTTTTGTCTTCTA | N | 0.194033399224 | intronic | MEFV | FAMILIAL MEDITERRANEAN FEVER | Mediterranean fever | THP-1 | appendix | |||||||||||
chr16 | 3304449 | 3304449 | C | G | N | 0.486632794142 | D | D | D | N | nonsynonymous SNV | MEFV | NM_000243 | 2 | 619 | 207 | A=>P | FAMILIAL MEDITERRANEAN FEVER | Mediterranean fever | THP-1 | appendix | ||
chr16 | 337421 | 337421 | A | C | rs377220 | N | 4.09395228829e-09 | 0.998003 | downstream | AXIN1 PDIA2 | |||||||||||||
chr16 | 33752121 | 33752121 | C | G | rs2549408 | N | 4.43689618379e-09 | 0.997204 | intergenic | ||||||||||||||
chr16 | 33923279 | 33923279 | C | A | rs79230281 | D | 1.0 | intergenic | |||||||||||||||
chr16 | 33960691 | 33960691 | A | C | rs77049061 | D | 1.0 | downstream | LINC00273 | ||||||||||||||
chr16 | 33964433 | 33964434 | CC | CA | D | 0.999908089638 | intergenic | ||||||||||||||||
chr16 | 33964433 | 33964434 | CC | TG | D | 0.999908089638 | intergenic | ||||||||||||||||
chr16 | 33964455 | 33964457 | CGC | TGT | D | 0.999992370605 | intergenic | ||||||||||||||||
chr16 | 33964528 | 33964545 | AGGGGGGGAGAGAGAGAC | AGAGGGGGGAGAGAGAGAC | D | 1.0 | intergenic | ||||||||||||||||
chr16 | 33964714 | 33964718 | TGCCG | CGCCA | D | 0.99998486042 | intergenic | ||||||||||||||||
chr16 | 33964793 | 33964795 | TTG | TCGCTG | D | 1.0 | intergenic | ||||||||||||||||
chr16 | 33964805 | 33964807 | CCG | CCA | N | 0.486632794142 | intergenic | ||||||||||||||||
chr16 | 33964805 | 33964807 | CCG | TCA | N | 0.486632794142 | intergenic | ||||||||||||||||
chr16 | 33965090 | 33965090 | G | A | D | 1.0 | intergenic | ||||||||||||||||
chr16 | 33965898 | 33965900 | GGA | AGG | D | 0.999991059303 | intergenic | ||||||||||||||||
chr16 | 33965898 | 33965900 | GGA | GGG | D | 0.999991059303 | intergenic | ||||||||||||||||
chr16 | 33966036 | 33966036 | A | G | rs77569093 | D | 0.999997973442 | intergenic | |||||||||||||||
chr16 | 33966062 | 33966063 | CC | AT | D | 0.999998569489 | intergenic | ||||||||||||||||
chr16 | 3558389 | 3558389 | C | T | rs79133712 | N | 0.0014257900184 | 0.0549121 | D | D | D | N | nonsynonymous SNV | CLUAP1 | NM_015041 | 4 | 320 | 107 | A=>V | CAPAN-2 | testis | ||
chr16 | 4166701 | 4166701 | C | G | rs2530895 | N | 0.142872497439 | 1 | upstream | ADCY9 | adenylate cyclase 9 | EFO-21 | thyroid gland | ||||||||||
chr16 | 417281 | 417281 | G | A | rs62032959 | N | 4.041009106e-06 | 0.213658 | downstream | MRPL28 | mitochondrial ribosomal protein L28 | MCF-7 | testis | ||||||||||
chr16 | 417289 | 417289 | C | T | rs62033860 | N | 9.61128716881e-06 | 0.213658 | downstream | MRPL28 | mitochondrial ribosomal protein L28 | MCF-7 | testis | ||||||||||
chr16 | 4180244 | 4180244 | C | T | rs373416 | N | 3.30733723786e-06 | 0.321885 | intergenic | ||||||||||||||
chr16 | 4180274 | 4180274 | T | C | rs443271 | N | 1.30461876324e-05 | 0.322284 | intergenic | ||||||||||||||
chr16 | 4180291 | 4180291 | G | A | rs400816 | N | 3.40726473951e-05 | 0.322284 | intergenic | ||||||||||||||
chr16 | 4180337 | 4180337 | G | A | rs413580 | N | 3.05601770378e-06 | 0.321685 | intergenic | ||||||||||||||
chr16 | 4180371 | 4180371 | C | T | rs395738 | N | 8.4689763753e-06 | 0.321885 | intergenic | ||||||||||||||
chr16 | 420678 | 420678 | C | T | rs3743884 | N | 0.486632794142 | 0.597244 | upstream,downstream | MRPL28;TMEM8A | |||||||||||||
chr16 | 422516 | 422516 | T | G | rs62030794 | N | 0.19125752151 | 0.146366 | intronic | TMEM8A | CACO-2 | placenta | |||||||||||
chr16 | 4233796 | 4233796 | G | C | rs4786462 | N | 0.486632794142 | 0.203075 | intergenic | ||||||||||||||
chr16 | 424277 | 424277 | G | A | rs3743887 | N | 0.000141893979162 | 0.143171 | N | P | P | N | nonsynonymous SNV | TMEM8A | NM_021259 | 10 | 1699 | 567 | R=>W | CACO-2 | placenta | ||
chr16 | 426432 | 426432 | T | C | rs2071915 | N | 1.7407554509e-08 | 0.532548 | N | N | N | N | nonsynonymous SNV | TMEM8A | NM_021259 | 6 | 928 | 310 | I=>V | CACO-2 | placenta | ||
chr16 | 4432029 | 4432029 | A | C | rs3810818 | N | 1.40289432693e-06 | 0.686302 | N | N | N | N | nonsynonymous SNV | VASN | NM_138440 | 2 | 1151 | 384 | E=>A | U-2197 | placenta | ||
chr16 | 4445327 | 4445327 | C | T | rs3747579 | N | 0.000528538832441 | 0.507388 | D | D | D | N | nonsynonymous SNV | CORO7 CORO7-PAM16 | NM_024535 NM_001201479 NM_001201473 NM_001201472 | 7,7,5,7 | 578,578,323,524 | 193,193,108,175 | R=>Q,R=>Q,R=>Q,R=>Q | ||||
chr16 | 4475868 | 4475868 | A | T | rs2304631 | N | 0.486632794142 | 0.663738 | 5-UTR | DNAJA3 | NM_001135110 NM_001286516 NM_005147 | DnaJ (Hsp40) homolog, subfamily A, member 3 | RPMI-8226 | heart muscle | |||||||||
chr16 | 4526292 | 4526292 | A | G | rs2270363 | N | 0.486632794142 | 0.682907 | intronic | HMOX2 | MCF-7 | testis | |||||||||||
chr16 | 49969963 | 49969963 | C | T | rs4785369 | N | 1.74923997065e-07 | 0.534545 | intergenic | ||||||||||||||
chr16 | 5097947 | 5097947 | A | G | rs1127920 | N | 3.30695888806e-06 | 0.226038 | N | P | N | N | nonsynonymous SNV | C16orf89 | NM_152459 NM_001098514 | 7,7 | 887,887 | 296,296 | L=>S,L=>S | NTERA-2 | thyroid gland | ||
chr16 | 51186025 | 51186025 | C | G | rs62039688 | N | 0.0760909169912 | 0.478435 | upstream | SALL1 | sal-like 1 (Drosophila) | NTERA-2 | kidney | ||||||||||
chr16 | 5289002 | 5289002 | G | C | rs11648387 | N | 2.69249872398e-10 | 0.953474 | intergenic | ||||||||||||||
chr16 | 55357681 | 55357681 | G | A | rs2588994 | N | 0.123622700572 | 0.312101 | upstream | IRX6 | Iroquois related homeobox 6 (Drosophila) | SK-MEL-30 | adipose tissue | ||||||||||
chr16 | 55809305 | 55809305 | A | C | rs28458414 | N | 8.34601848965e-07 | 0.650958 | downstream | CES1P1 | |||||||||||||
chr16 | 56700578 | 56700580 | CTA | CTTTA | D | 0.936779558659 | downstream | MT1G | U-937 | thyroid gland | |||||||||||||
chr16 | 570454 | 570454 | T | C | rs11863276 | N | 6.96446207371e-08 | 0.791534 | intronic | RAB11FIP3 | RAB11 family interacting protein 3 (class II) | REH | kidney | ||||||||||
chr16 | 57050809 | 57050809 | A | G | rs16942393 | N | 3.16084765473e-06 | 0.491813 | upstream | NLRC5 | NB-4 | spleen | |||||||||||
chr16 | 58782859 | 58782859 | A | G | rs1657167 | N | 5.65371101402e-06 | 0.679912 | intergenic | ||||||||||||||
chr16 | 59200735 | 59200735 | G | A | rs11648712 | N | 1.26778268168e-05 | 0.391973 | intergenic | ||||||||||||||
chr16 | 65210604 | 65210604 | G | C | rs8061375 | N | 8.0440175354e-11 | 0.747204 | upstream | LOC101927650 | |||||||||||||
chr16 | 65610549 | 65610549 | T | C | rs10852425 | N | 2.03470951199e-09 | 0.828674 | upstream | LINC00922 | |||||||||||||
chr16 | 679241 | 679241 | G | T | rs17555255 | N | 0.199086502194 | 0.00579073 | 3-UTR | RAB40C | NM_001172663 NM_001172664 NM_001172665 NM_001172666 NM_021168 | Rab40c, member RAS oncogene family | MCF-7 | skin | |||||||||
chr16 | 70011947 | 70011949 | CTG | CTATG | N | 0.193620219827 | ncRNA | PDXDC2P | |||||||||||||||
chr16 | 70835099 | 70835099 | G | A | rs8054131 | N | 0.486632794142 | 0.692093 | upstream,downstream | VAC14;HYDIN | |||||||||||||
chr16 | 72153518 | 72153518 | G | A | rs186286 | N | 1.64396674052e-08 | 0.973243 | intronic | PMFBP1 | polyamine modulated factor 1 binding protein 1 | SCLC-21H | testis | ||||||||||
chr16 | 74455302 | 74455302 | A | G | rs3851723 | N | 0.486632794142 | 5-UTR | CLEC18B | NM_001011880 | K-562 | kidney | |||||||||||
chr16 | 74808737 | 74808737 | C | G | rs8056865 | N | 0.0620700195432 | 0.685104 | upstream | FA2H | fatty acid 2-hydroxylase | A-549 | stomach | ||||||||||
chr16 | 74877956 | 74877956 | A | G | rs7189084 | N | 8.13342992956e-09 | 0.727037 | intergenic | ||||||||||||||
chr16 | 810844 | 810844 | T | A | rs145097314 | N | 0.0608939193189 | 0.0061901 | intronic | MSLN | mesothelin | CAPAN-2 | lung | ||||||||||
chr16 | 818452 | 818452 | G | A | rs150425699 | N | 0.486632794142 | 0.0061901 | D | N | N | N | nonsynonymous SNV | MSLN | NM_005823 NM_013404 | 17,16 | 1670,1694 | 557,565 | R=>H,R=>H | mesothelin | CAPAN-2 | lung | |
chr16 | 820328 | 820328 | A | C | rs3765328 | N | 1.97208276376e-08 | 0.476438 | downstream | MIR662 | |||||||||||||
chr16 | 820888 | 820888 | T | C | rs12599339 | N | 2.20236943278e-05 | 0.370407 | N | N | N | N | downstream | MIR662 | |||||||||
chr16 | 824837 | 824838 | CG | TA | N | 0.486632794142 | intergenic | ||||||||||||||||
chr16 | 825255 | 825255 | G | A | rs73491269 | N | 0.000658397679217 | 0.177516 | D | D | D | N | intergenic | ||||||||||
chr16 | 830207 | 830207 | G | A | rs146766444 | N | 1.35632926686e-05 | 0.00778754 | intergenic | ||||||||||||||
chr16 | 836507 | 836510 | CCTG | CG | N | 0.000146624093759 | intronic | RPUSD1 | MCF-7 | lymph node | |||||||||||||
chr16 | 83986575 | 83986575 | C | T | rs12929571 | N | 0.0546994917095 | 0.611022 | upstream | OSGIN1 | oxidative stress induced growth inhibitor 1 | Hep-G2 | liver | ||||||||||
chr16 | 83986636 | 83986636 | G | C | rs12929854 | N | 0.00803085882217 | 0.608227 | upstream | OSGIN1 | oxidative stress induced growth inhibitor 1 | Hep-G2 | liver | ||||||||||
chr16 | 841540 | 841540 | C | G | rs147815583 | N | 0.0111974319443 | 0.00778754 | intronic | CHTF18 | CTF18, chromosome transmission fidelity factor 18 | REH | bone marrow | ||||||||||
chr16 | 841802 | 841802 | C | T | rs143006475 | N | 0.498045414686 | 0.00758786 | intronic | CHTF18 | CTF18, chromosome transmission fidelity factor 18 | REH | bone marrow | ||||||||||
chr16 | 842518 | 842518 | C | T | rs35387463 | N | 0.000184517994057 | 0.00758786 | N | N | N | N | nonsynonymous SNV | CHTF18 | NM_022092 | 11 | 1406 | 469 | S=>L | CTF18, chromosome transmission fidelity factor 18 | REH | bone marrow | |
chr16 | 84651757 | 84651757 | G | C | rs71390484 | N | 0.486632794142 | upstream | COTL1 | WM-115 | lymph node | ||||||||||||
chr16 | 848000 | 848000 | C | T | rs148471037 | N | 6.61268932163e-05 | 0.00698882 | 3-UTR | CHTF18 | NM_022092 | CTF18, chromosome transmission fidelity factor 18 | REH | bone marrow | |||||||||
chr16 | 848717 | 848717 | G | C | rs146909074 | N | 6.38193450868e-05 | 0.00638978 | 3-UTR | GNG13 | NM_016541 | MCF-7 | cerebral cortex | ||||||||||
chr16 | 85474333 | 85474333 | C | T | rs28499043 | N | 3.8344151676e-07 | 0.814297 | intergenic | ||||||||||||||
chr16 | 855885 | 855885 | A | G | rs147922685 | N | 0.000169828170328 | 0.0153754 | N | N | N | nonsynonymous SNV | PRR25 | NM_001013638 | 1 | 443 | 148 | K=>R | HEK-293 | adipose tissue | |||
chr16 | 85785087 | 85785087 | A | G | rs301142 | N | 5.48951493329e-06 | 0.985423 | upstream | C16orf74 | EFO-21 | urinary bladder | |||||||||||
chr16 | 8588714 | 8588714 | T | C | rs9932129 | N | 3.70287380065e-05 | 0.194888 | upstream | TMEM114 | Hep-G2 | heart muscle | |||||||||||
chr16 | 863398 | 863398 | C | T | rs13337837 | N | 6.07459742241e-06 | 0.0994409 | D | D | N | nonsynonymous SNV | PRR25 | NM_001013638 | 3 | 746 | 249 | P=>L | HEK-293 | adipose tissue | |||
chr16 | 863498 | 863498 | G | C | rs13333991 | N | 2.93857660427e-10 | 0.191893 | D | D | N | nonsynonymous SNV | PRR25 | NM_001013638 | 3 | 846 | 282 | L=>F | HEK-293 | adipose tissue | |||
chr16 | 86591676 | 86591676 | G | A | rs6539953 | N | 3.78125889711e-07 | 0.914537 | downstream | FLJ30679 | |||||||||||||
chr16 | 88111308 | 88111308 | A | C | rs11117359 | N | 2.09295554694e-18 | 0.985623 | downstream | BANP | BEWO | ovary | |||||||||||
chr16 | 88506741 | 88506741 | A | G | rs3848234 | N | 9.71833287622e-06 | 0.840855 | 3-UTR | ZNF469 | NM_001127464 | THP-1 | ovary | ||||||||||
chr16 | 88602303 | 88602307 | TGGCT | TGCT | N | 0.280226767063 | downstream | ZFPM1 | K-562 | stomach | |||||||||||||
chr16 | 88633347 | 88633347 | G | T | rs8057773 | N | 7.51898255658e-07 | 0.48742 | intergenic | ||||||||||||||
chr16 | 88633354 | 88633354 | A | G | rs6500476 | N | 6.73204292312e-09 | 0.83726 | intergenic | ||||||||||||||
chr16 | 88723538 | 88723550 | TGGGGGGGGGTCT | TGGGGGGGGGGTCT | N | 0.486864060163 | intronic | MVD | CAPAN-2 | colon | |||||||||||||
chr16 | 88763561 | 88763561 | T | C | rs4597303 | N | 9.67261985352e-06 | 0.961062 | 3-UTR | RNF166 | NM_001171816 NM_001171815 NM_178841 | NB-4 | bone marrow | ||||||||||
chr16 | 89062776 | 89062776 | C | T | rs10852634 | N | 4.80556423099e-07 | 0.882788 | intergenic | ||||||||||||||
chr16 | 89221287 | 89221287 | G | C | rs78403542 | N | 5.62642671866e-05 | 0.15016 | 3-UTR | ACSF3 | NM_001127214 NM_001243279 NM_001284316 NM_174917 | U-698 | duodenum | ||||||||||
chr16 | 89267096 | 89267096 | C | A | rs74899331 | N | 6.27569825156e-05 | 0.153155 | upstream | SLC22A31 | Hep-G2 | lung | |||||||||||
chr16 | 8963214 | 8963214 | A | G | rs1657089 | N | 0.00136020884383 | 0.995407 | upstream | CARHSP1 | calcium regulated heat stable protein 1 | Hep-G2 | testis | ||||||||||
chr16 | 89882807 | 89882807 | G | T | rs78004870 | N | 0.0294558852911 | 0.573682 | intronic | FANCA | FANCONI ANEMIA, COMPLEMENTATION GROUP A | NB-4 | lymph node | ||||||||||
chr16 | 90039450 | 90039450 | G | C | rs11649211 | N | 0.0224007014185 | 0.652356 | ncRNA | AFG3L1P | |||||||||||||
chr16 | 961051 | 961054 | CCCC | TCCT | N | 0.309854775667 | nonframeshift substitution | LMF1 | NM_022773 | 4 | 540 | RPMI-8226 | pancreas | ||||||||||
chr16 | 984113 | 984113 | C | A | rs11248955 | N | 1.46161596604e-06 | 0.491014 | ncRNA | LMF1-AS1 | |||||||||||||
chr16 | 997473 | 997475 | TGC | CGT | N | 0.0248033385724 | intronic | LMF1 | RPMI-8226 | pancreas | |||||||||||||
chr17 | 1083083 | 1083083 | A | G | rs62070499 | N | 0.0869393125176 | 0.746805 | 5-UTR | ABR | NM_021962 | active BCR-related gene | U-87-MG | cerebral cortex | |||||||||
chr17 | 1396197 | 1396197 | C | G | rs4606774 | N | 4.76293102736e-08 | 0.556909 | upstream | MYO1C | myosin IC | A-549 | adipose tissue | ||||||||||
chr17 | 1637302 | 1637303 | AA | GC | N | 0.0481693558395 | nonframeshift substitution | WDR81 | NM_001163673 NM_001163809 NM_152348 NM_001163811 | 7,7,8,7 | 1362,4971,1818,1290 | WD repeat domain 81 | A-549 | spleen | |||||||||
chr17 | 1645313 | 1645313 | A | G | rs62090054 | N | 0.000166040685144 | upstream | SERPINF2 | serine (or cysteine) peptidase inhibitor, clade F, member 2 | Hep-G2 | liver | |||||||||||
chr17 | 1686410 | 1686410 | T | C | rs9902398 | N | 3.85321521868e-14 | 0.776757 | N | N | N | N | nonsynonymous SNV | SMYD4 | NM_052928 | 10 | 2180 | 727 | Y=>C | SET and MYND domain containing 4 | CACO-2 | adipose tissue | |
chr17 | 16875636 | 16875636 | C | A | rs4985754 | N | 0.385276645422 | 0.202276 | upstream | TNFRSF13B | IMMUNODEFICIENCY, COMMON VARIABLE, 2 | Karpas-707 | spleen | ||||||||||
chr17 | 16890782 | 16890782 | T | A | rs6502550 | N | 1.55566282851e-16 | 1 | intergenic | ||||||||||||||
chr17 | 17388860 | 17388860 | A | G | rs2141116 | N | 5.28655591525e-11 | 0.972644 | intronic | MED9 | MOLT-4 | heart muscle | |||||||||||
chr17 | 1942861 | 1942861 | C | T | rs7207466 | N | 1.45930391682e-06 | 0.757588 | intronic | DPH1 | DPH1 homolog (S. cerevisiae) | HEK-293 | prostate | ||||||||||
chr17 | 1953037 | 1953037 | A | C | rs2957924 | N | 0.0347129367292 | 0.897165 | downstream | MIR132 MIR212 | |||||||||||||
chr17 | 20885727 | 20885727 | T | A | rs4985948 | N | 2.07770444831e-05 | 0.709665 | downstream | LOC339260 | |||||||||||||
chr17 | 21311932 | 21311932 | A | G | rs1714904 | N | 0.000173702748725 | 5-UTR | KCNJ12 | NM_021012 NM_001194958 | potassium inwardly-rectifying channel, subfamily J, member 12 | SCLC-21H | heart muscle | ||||||||||
chr17 | 21323859 | 21323862 | CCCC | TCAT | N | 0.00508194137365 | downstream | KCNJ12 | potassium inwardly-rectifying channel, subfamily J, member 12 | SCLC-21H | heart muscle | ||||||||||||
chr17 | 21323859 | 21323862 | CCCC | TCCC | N | 0.00508194137365 | downstream | KCNJ12 | potassium inwardly-rectifying channel, subfamily J, member 12 | SCLC-21H | heart muscle | ||||||||||||
chr17 | 21549356 | 21549356 | G | A | rs62049745 | N | 1.90753416973e-05 | intergenic | |||||||||||||||
chr17 | 21549741 | 21549745 | GCACA | ACACG | N | 6.14065793343e-05 | intergenic | ||||||||||||||||
chr17 | 21549741 | 21549745 | GCACA | GCACG | N | 6.14065793343e-05 | intergenic | ||||||||||||||||
chr17 | 21820963 | 21820963 | T | G | rs9899382 | N | 3.95468147119e-09 | 0.989417 | intergenic | ||||||||||||||
chr17 | 29891669 | 29891669 | G | T | rs8081211 | N | 2.80319534945e-11 | 0.42472 | intergenic | ||||||||||||||
chr17 | 30159178 | 30159178 | T | C | rs7221594 | N | 3.77324695933e-08 | 0.886581 | intergenic | ||||||||||||||
chr17 | 3195503 | 3195503 | C | T | rs703903 | N | 4.17194905822e-06 | 0.55012 | D | D | D | N | nonsynonymous SNV | OR3A1 | NM_002550 | 1 | 374 | 125 | R=>Q | HDLM-2 | testis | ||
chr17 | 3213690 | 3213690 | T | C | rs61734050 | N | 2.46566960413e-05 | 0.108626 | ncRNA | OR3A4P | |||||||||||||
chr17 | 3214181 | 3214181 | T | G | rs231678 | N | 3.06759943669e-07 | 0.436901 | ncRNA | OR3A4P | |||||||||||||
chr17 | 3462130 | 3462130 | T | A | rs322957 | N | 0.486632794142 | 0.288938 | upstream | TRPV3 | transient receptor potential cation channel, subfamily V, member 3 | CACO-2 | skin | ||||||||||
chr17 | 35581887 | 35581912 | TTATATATATATATATATATATATAC | TTATATATATATATATATATATAC | D | 0.866300702095 | intronic | ACACA | acetyl-Coenzyme A carboxylase alpha | ||||||||||||||
chr17 | 38975307 | 38975332 | TGCCGCCGTGGCCGCCGCCGTGGCCG | TGCCGCCGTGGCCG | N | 0.486632794142 | nonframeshift substitution | KRT10 | NM_000421 | 7 | 1455 | HaCaT | skin | ||||||||||
chr17 | 38975307 | 38975332 | TGCCGCCGTGGCCGCCGCCGTGGCCG | TGCCGCCGTGGCCGCCGCCGTAGCCG | N | 0.486632794142 | nonframeshift substitution | KRT10 | NM_000421 | 7 | 1455 | HaCaT | skin | ||||||||||
chr17 | 3953080 | 3953083 | GACT | AACC | N | 0.486632794142 | nonframeshift substitution | ZZEF1 | NM_015113 | 37 | 5934 | zinc finger, ZZ-type with EF hand domain 1 | HMC-1 | small intestine | |||||||||
chr17 | 3953080 | 3953083 | GACT | GACC | N | 0.486632794142 | nonframeshift substitution | ZZEF1 | NM_015113 | 37 | 5934 | zinc finger, ZZ-type with EF hand domain 1 | HMC-1 | small intestine | |||||||||
chr17 | 39641499 | 39641499 | C | T | rs7224654 | N | 1.20137769954e-07 | 0.624601 | downstream | KRT36 | keratin 36 | Karpas-707 | spleen | ||||||||||
chr17 | 39890715 | 39890715 | A | T | rs4796603 | N | 0.0040505179204 | 0.769968 | N | P | P | N | nonsynonymous SNV | HAP1 | NM_001079871 NM_177977 NM_001079870 | 1,1,1 | 172,172,172 | 58,58,58 | S=>T,S=>T,S=>T | huntingtin-associated protein 1 | REH | stomach | |
chr17 | 39959189 | 39959189 | C | G | rs1065029 | N | 4.16910559894e-12 | 0.911142 | 3-UTR | P3H4 | NM_006455 | ||||||||||||
chr17 | 40075413 | 40075413 | A | G | rs8077121 | N | 0.0262085348368 | 0.897963 | upstream | ACLY | ATP citrate lyase | A-549 | prostate | ||||||||||
chr17 | 41361881 | 41361914 | ATTTTTTTTTTTTTTTTTGCTTTGCTTGTCTCTA | ATTTTTTTTTTTTTTTGCTTTGCTTGTCTCTA | D | 0.999930381775 | intronic | NBR1 | neighbor of Brca1 gene 1 | U-138-MG | testis | ||||||||||||
chr17 | 41381916 | 41381916 | A | G | rs4027820 | D | 0.987441658974 | upstream | LINC00854 | ||||||||||||||
chr17 | 41381926 | 41381926 | A | G | rs2356320 | D | 0.980338811874 | upstream | LINC00854 | ||||||||||||||
chr17 | 41381942 | 41381942 | T | C | rs2356319 | D | 0.999221801758 | upstream | LINC00854 | ||||||||||||||
chr17 | 41381981 | 41381981 | T | C | rs2356318 | D | 0.7703743577 | upstream | LINC00854 | ||||||||||||||
chr17 | 41466515 | 41466517 | TCT | CCC | D | 0.999802291393 | upstream | LINC00910 | |||||||||||||||
chr17 | 41466522 | 41466522 | T | G | rs144280248 | D | 0.997809946537 | upstream | LINC00910 | ||||||||||||||
chr17 | 41940360 | 41940360 | G | T | rs231543 | N | 1.68811353785e-10 | 0.783746 | 3-UTR | CD300LG | NM_145273 | CD300 antigen like family member G | BEWO | adipose tissue | |||||||||
chr17 | 42002446 | 42002446 | T | G | rs1731900 | N | 2.31038507081e-06 | 0.204273 | intergenic | ||||||||||||||
chr17 | 42201041 | 42201041 | G | T | rs112114764 | N | 0.486632794142 | 0.407947 | upstream | HDAC5 | histone deacetylase 5 | THP-1 | skin | ||||||||||
chr17 | 42296981 | 42297006 | TGGCGGCGGCGGCGGCGGCGGCGGCT | TGGCGGCGGCGGCGGCGGCT | N | 0.447463899851 | 5-UTR | UBTF | NM_001076684 NM_014233 | upstream binding transcription factor, RNA polymerase I | Daudi | lymph node | |||||||||||
chr17 | 43677727 | 43677727 | T | C | rs2693342 | N | 1.11630503452e-10 | 0.971246 | ncRNA | LOC644172 | |||||||||||||
chr17 | 45044147 | 45044147 | C | A | rs11079745 | N | 7.86950749898e-06 | 0.439896 | 3-UTR | GOSR2 | NM_001321133 | PC-3 | duodenum | ||||||||||
chr17 | 45051183 | 45051183 | G | A | rs7211367 | N | 4.10862952549e-08 | 0.708267 | downstream | MIR5089 | |||||||||||||
chr17 | 45051296 | 45051296 | A | T | rs7215119 | N | 5.74958436417e-09 | 0.708466 | downstream | MIR5089 | |||||||||||||
chr17 | 45054806 | 45054806 | A | C | rs3851790 | N | 0.00158704293426 | 0.810703 | downstream | RPRML | Daudi | cerebral cortex | |||||||||||
chr17 | 45933341 | 45933341 | T | C | rs8064241 | N | 2.18474807689e-10 | 0.474441 | upstream | SP6 | trans-acting transcription factor 6 | BEWO | placenta | ||||||||||
chr17 | 46102904 | 46102904 | G | A | rs33983467 | N | 0.0130674997345 | 0.267971 | downstream | COPZ2 | U-87-MG | adipose tissue | |||||||||||
chr17 | 4637016 | 4637016 | C | T | rs4790696 | N | 2.54024662416e-10 | 0.975639 | 3-UTR | CXCL16 | NM_022059 | chemokine (C-X-C motif) ligand 16 | A-431 | lung | |||||||||
chr17 | 46653332 | 46653332 | T | C | rs6504397 | N | 1.86307219652e-11 | 0.9375 | 3-UTR | HOXB4 | NM_024015 | homeobox B4 | EFO-21 | adipose tissue | |||||||||
chr17 | 4686463 | 4686465 | ACG | ACGCCTACCTGGCTCG | D | 0.983967006207 | 3-UTR | TM4SF5 | NM_003963 | Hep-G2 | duodenum | ||||||||||||
chr17 | 4689194 | 4689198 | ACCAT | ACAT | N | 0.00146927498281 | frameshift substitution | VMO1 | NM_001144939 | 2 | 345 | vitelline membrane outer layer 1 homolog (chicken) | MCF-7 | spleen | |||||||||
chr17 | 4689572 | 4689572 | T | C | rs4790706 | N | 2.25468532733e-09 | 0.533546 | N | N | N | N | nonsynonymous SNV | VMO1 | NM_001144940 NM_001144939 NM_001144941 NM_182566 | 1,1,1,1 | 76,26,76,26,76,26,76,26 | 26,26,26,26 | T=>A,T=>A,T=>A,T=>A | vitelline membrane outer layer 1 homolog (chicken) | MCF-7 | spleen | |
chr17 | 4704153 | 4704153 | C | T | rs8081550 | N | 1.98133093363e-05 | 0.573682 | intergenic | ||||||||||||||
chr17 | 48240420 | 48240452 | TGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAA | TGAAGGAAGGAAGGAAGGGAGGAAGGAAA | N | 0.000334326730808 | intergenic | ||||||||||||||||
chr17 | 48785165 | 48785165 | C | T | rs8068442 | N | 0.486632794142 | 0.998003 | 5-UTR | ANKRD40 | NM_052855 | CACO-2 | adipose tissue | ||||||||||
chr17 | 48834053 | 48834096 | CAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACCTAAATGTATG | CAAAAAAAAAAAAAAAAAAAAAAAAGAAACCTAAATGTATG | N | 0.000537936924957 | intergenic | ||||||||||||||||
chr17 | 48987851 | 48987851 | T | C | rs887377 | N | 8.88383292486e-18 | 0.854433 | intergenic | ||||||||||||||
chr17 | 49375325 | 49375344 | AACACACACACACACAAACT | AACACACACACACAAACT | N | 0.108350411057 | downstream | UTP18 | UTP18, small subunit (SSU) processome component, homolog (yeast) | U-266/84 | testis | ||||||||||||
chr17 | 55028928 | 55028928 | A | G | rs4794675 | N | 1.54771143457e-07 | 0.903954 | intronic | COIL | coilin | U-266/84 | testis | ||||||||||
chr17 | 5676038 | 5676038 | G | A | rs12450161 | N | 6.45069121674e-06 | 0.446685 | ncRNA | LOC339166 | |||||||||||||
chr17 | 61851588 | 61851604 | CGGCGGTGGTGGTGGTG | CG | N | 0.486632794142 | 5-UTR | DDX42 | NM_007372 NM_203499 | DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 | U-138-MG | ovary | |||||||||||
chr17 | 61888693 | 61888693 | T | A | rs2584629 | N | 2.72296030168e-09 | 0.987021 | intronic | DDX42 | DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 | U-138-MG | ovary | ||||||||||
chr17 | 61904465 | 61904467 | CTA | CGTA | N | 0.486632794142 | 5-UTR | FTSJ3 | NM_017647 | FtsJ homolog 3 (E. coli) | SH-SY5Y | kidney | |||||||||||
chr17 | 63557920 | 63557920 | A | G | rs62065660 | N | 0.120208509266 | 0.914537 | upstream | AXIN2 | axin2 | Hep-G2 | uterus | ||||||||||
chr17 | 64960677 | 64960677 | A | G | rs111259345 | N | 1.66000296842e-10 | 0.782348 | upstream | CACNG4 | calcium channel, voltage-dependent, gamma subunit 4 | SH-SY5Y | cerebral cortex | ||||||||||
chr17 | 6559040 | 6559040 | G | A | rs28504521 | N | 0.0187278259546 | upstream,downstream | MIR4520-1;MIR4520-2 | ||||||||||||||
chr17 | 66148812 | 66148820 | CGGGTGGTC | CGGGGTGGTC | N | 0.0131171727553 | intergenic | ||||||||||||||||
chr17 | 6652890 | 6652890 | A | G | rs1567346 | N | 1.58995963062e-08 | 0.648163 | intergenic | ||||||||||||||
chr17 | 66542048 | 66542048 | T | C | rs4968808 | N | 0.00215455354191 | 0.20627 | intronic | FAM20A PRKAR1A | |||||||||||||
chr17 | 7011081 | 7011088 | CACACGTA | CA | N | 0.000820443208795 | intronic | ASGR2 | asialoglycoprotein receptor 2 | Hep-G2 | liver | ||||||||||||
chr17 | 7011081 | 7011088 | CACACGTA | CACACGTACACATTACACACACCGCA | N | 0.000760556489695 | intronic | ASGR2 | asialoglycoprotein receptor 2 | Hep-G2 | liver | ||||||||||||
chr17 | 7012073 | 7012079 | GGCCCCC | TGCCTCT | N | 0.00703720608726 | nonframeshift substitution | ASGR2 | NM_001181 NM_080914 NM_080912 | 3,2,3 | 253,196,253 | asialoglycoprotein receptor 2 | Hep-G2 | liver | |||||||||
chr17 | 7123240 | 7123256 | TGGGCGTGCAGGACGCC | TGGGCGTGCAGGACGCGGGCGTGCAGGACGCC | N | 0.486632794142 | 5-UTR | ACADVL | NM_000018 NM_001033859 NM_001270448 NM_001321074 NM_001365 | VLCAD DEFICIENCY | HDLM-2 | duodenum | |||||||||||
chr17 | 7127718 | 7127718 | T | C | rs17671352 | N | 1.14374852274e-05 | 0.519768 | intronic | ACADVL | VLCAD DEFICIENCY | HDLM-2 | duodenum | ||||||||||
chr17 | 7165395 | 7165403 | CGGGGAGAC | CGGGAGAC | N | 0.486632794142 | 5-UTR | CLDN7 | NM_001185023 NM_001307 NM_001185022 | HaCaT | colon | ||||||||||||
chr17 | 7197794 | 7197794 | C | A | rs222859 | N | 4.55148295941e-07 | 0.719449 | N | N | N | N | nonsynonymous SNV | YBX2 | NM_015982 | 1 | 26 | 9 | G=>V | Y box protein 2 | MCF-7 | testis | |
chr17 | 7292107 | 7292107 | G | A | rs6503018 | N | 2.98995871617e-07 | 0.725639 | N | N | D | nonsynonymous SNV | TNK1 | NM_001251902 NM_003985 | 12,12 | 1792,1777 | 598,593 | V=>M,V=>M | tyrosine kinase, non-receptor, 1 | HaCaT | stomach | ||
chr17 | 7293715 | 7293715 | C | T | rs3744549 | N | 5.19803870702e-06 | 0.525359 | N | N | N | N | nonsynonymous SNV | PLSCR3 | NM_020360 NM_001201576 | 8,8 | 877,877 | 293,293 | V=>I,V=>I | phospholipid scramblase 3 | |||
chr17 | 7297452 | 7297452 | A | G | rs4613118 | N | 0.000284761103103 | 0.545128 | ncRNA | TMEM256-PLSCR3 | TIME | spleen | |||||||||||
chr17 | 7322245 | 7322245 | A | G | rs3174744 | N | 1.46488190467e-08 | 0.45607 | 3-UTR | NLGN2 | NM_020795 | neuroligin 2 | AN3-CA | cerebral cortex | |||||||||
chr17 | 7358861 | 7358861 | T | C | rs2302762 | N | 0.486632794142 | 0.476038 | intronic | CHRNB1 | cholinergic receptor, nicotinic, beta polypeptide 1 (muscle) | RH-30 | adrenal gland | ||||||||||
chr17 | 74670533 | 74670533 | T | C | rs2898621 | N | 3.19383897107e-09 | 0.899561 | 3-UTR | MXRA7 | NM_001008528 | matrix-remodelling associated 7 | U-87-MG | heart muscle | |||||||||
chr17 | 74707050 | 74707050 | G | C | rs71383084 | N | 0.00200037518516 | 0.94349 | 5-UTR | MXRA7 | NM_001008528 NM_001008529 NM_198530 | matrix-remodelling associated 7 | U-87-MG | heart muscle | |||||||||
chr17 | 74707361 | 74707361 | G | A | rs12951649 | N | 1.14255581138e-05 | 0.942891 | upstream | MXRA7 | matrix-remodelling associated 7 | U-87-MG | heart muscle | ||||||||||
chr17 | 74728938 | 74728938 | C | T | rs4789351 | N | 0.260223776102 | 0.888978 | intronic | METTL23 | SK-MEL-30 | testis | |||||||||||
chr17 | 7485206 | 7485206 | A | G | rs1143015 | N | 1.72548570845e-05 | 0.641573 | 3-UTR | CD68 | NM_001251 NM_001040059 | CD68 antigen | U-87-MG | spleen | |||||||||
chr17 | 7490379 | 7490379 | G | C | rs2302661 | N | 1.52382672453e-11 | 0.446486 | intronic | MPDU1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If | mannose-P-dolichol utilization defect 1 | U-251-MG | liver | |||||||||
chr17 | 75522452 | 75522452 | C | G | rs35551889 | N | 2.05530727726e-06 | 0.365216 | intergenic | ||||||||||||||
chr17 | 7578645 | 7578645 | C | T | rs2909430 | N | 2.12150838563e-10 | 0.842851 | 5-UTR | TP53 | NM_001126115 NM_001126116 NM_001126117 NM_001276697 NM_001276698 NM_001276699 | COLORECTAL CANCER | REH | lymph node | |||||||||
chr17 | 7578711 | 7578736 | CTTTTTTTTTTTTTTTTTTGAGATAG | CTTTTTTTTTTTTTTTGAGATAG | N | 0.137590065598 | 5-UTR | TP53 | NM_001126115 NM_001126116 NM_001126117 NM_001276697 NM_001276698 NM_001276699 | COLORECTAL CANCER | REH | lymph node | |||||||||||
chr17 | 7579801 | 7579801 | G | C | rs1642785 | N | 4.95355561725e-05 | 0.584864 | 5-UTR | TP53 | NM_001126118 | COLORECTAL CANCER | REH | lymph node | |||||||||
chr17 | 76138710 | 76138710 | A | G | rs11650029 | N | 3.1291427149e-05 | 0.0728834 | 3-UTR | TMC8 | NM_152468 | EPIDERMODYSPLASIA VERRUCIFORMIS | transmembrane channel-like gene family 8 | HMC-1 | lymph node | ||||||||
chr17 | 7615364 | 7615364 | T | C | rs3948593 | N | 2.59036596617e-08 | 0.93131 | downstream | EFNB3 | ephrin B3 | AN3-CA | cerebral cortex | ||||||||||
chr17 | 76275094 | 76275094 | G | C | rs4789570 | N | 1.30689059574e-07 | 0.973043 | upstream | LOC100996291 | |||||||||||||
chr17 | 7691053 | 7691081 | TAAAAAAAAAAAAAAAAAAAGCAAATCGT | TAAAAAAAAAAAAAAAAAAGCAAATCGT | N | 0.00537469098344 | intronic | DNAH2 | CACO-2 | testis | |||||||||||||
chr17 | 7700712 | 7700712 | C | T | rs1565817 | N | 1.99001133296e-05 | 0.533946 | intronic | DNAH2 | CACO-2 | testis | |||||||||||
chr17 | 7750177 | 7750219 | TACCACCACCACCACCACCACCACCACCACCACCACCACCCCT | TACCACCACCACCACCACCACCACCACCACCACCCCT | N | 0.00157358113211 | nonframeshift substitution | KDM6B | NM_001080424 | 9 | 752 | KDM1 lysine (K)-specific demethylase 6B | SH-SY5Y | urinary bladder | |||||||||
chr17 | 7788409 | 7788409 | C | G | rs201772788 | N | 0.0545219816267 | intronic | CHD3 | chromodomain helicase DNA binding protein 3 | AN3-CA | prostate | |||||||||||
chr17 | 77909339 | 77909339 | A | G | rs2650243 | N | 4.93184643346e-07 | 0.97504 | 3-UTR | TBC1D16 | NM_001271844 NM_001271845 NM_019020 | TBC1 domain family, member 16 | SK-MEL-30 | adipose tissue | |||||||||
chr17 | 77912051 | 77912051 | C | G | rs2587512 | N | 1.70272834461e-12 | 0.963858 | 3-UTR | TBC1D16 | NM_001271844 NM_001271845 NM_019020 | TBC1 domain family, member 16 | SK-MEL-30 | adipose tissue | |||||||||
chr17 | 78228023 | 78228033 | GCCTCCTCCCA | GCCTCCCA | N | 0.00107466697227 | downstream | SLC26A11 | solute carrier family 26, member 11 | SH-SY5Y | adrenal gland | ||||||||||||
chr17 | 79615825 | 79615825 | G | A | rs9890264 | N | 0.212659612298 | 0.669529 | downstream | TSPAN10 | tetraspanin 10 | ||||||||||||
chr17 | 8055723 | 8055723 | A | G | rs3027172 | N | 0.000754390261136 | 0.104633 | 5-UTR | PER1 | NM_002616 | period homolog 1 (Drosophila) | Karpas-707 | bone marrow | |||||||||
chr17 | 8216468 | 8216468 | T | C | rs871841 | N | 1.36636538173e-06 | 0.621006 | N | N | N | N | nonsynonymous SNV | ARHGEF15 | NM_025014 NM_173728 | 3,3 | 830,830 | 277,277 | L=>P,L=>P | Rho guanine nucleotide exchange factor (GEF) 15 | TIME | adipose tissue | |
chr17 | 8243661 | 8243661 | G | A | rs12601097 | N | 2.24749037443e-05 | 0.538938 | N | N | N | N | nonsynonymous SNV | ODF4 | NM_153007 | 1 | 292 | 98 | V=>M | outer dense fiber of sperm tails 4 | RT-4 | testis | |
chr17 | 8378693 | 8378694 | GA | TC | N | 0.458278298378 | 3-UTR | MYH10 | NM_001256012 NM_001256095 NM_005964 | myosin, heavy polypeptide 10, non-muscle | REH | lung | |||||||||||
chr17 | 8725212 | 8725218 | GCAGGAA | ACAGGGAA | D | 0.91521281004 | exonic | PIK3R6 | phosphoinositide-3-kinase, regulatory subunit 6 | ||||||||||||||
chr17 | 8725212 | 8725218 | GCAGGAA | GCAGGGAA | D | 0.91521281004 | exonic | PIK3R6 | phosphoinositide-3-kinase, regulatory subunit 6 | ||||||||||||||
chr17 | 9086228 | 9086228 | C | A | rs2302196 | N | 1.5188981024e-06 | 0.322284 | intronic | NTN1 | netrin 1 | BEWO | heart muscle | ||||||||||
chr17 | 9086561 | 9086561 | C | A | rs16957995 | N | 5.35814194791e-07 | 0.322684 | intronic | NTN1 | netrin 1 | BEWO | heart muscle | ||||||||||
chr18 | 108329 | 108329 | A | G | rs34310130 | D | 1.0 | upstream | ROCK1P1 | ||||||||||||||
chr18 | 13612544 | 13612563 | ACCCCCCCCCCCTCCACGCT | ACCCCCCCCCCCCTCCACGCT | N | 0.486632794142 | 5-UTR | LDLRAD4 | NM_001003674 NM_001003675 | MOLT-4 | cerebral cortex | ||||||||||||
chr18 | 13612544 | 13612563 | ACCCCCCCCCCCTCCACGCT | ACCCCCCCCCCTCCACGCT | N | 0.486632794142 | 5-UTR | LDLRAD4 | NM_001003674 NM_001003675 | MOLT-4 | cerebral cortex | ||||||||||||
chr18 | 21898556 | 21898556 | T | C | rs12955338 | N | 0.00158640008885 | 0.117812 | intronic | OSBPL1A | oxysterol binding protein-like 1A | AN3-CA | cerebral cortex | ||||||||||
chr18 | 23533133 | 23533133 | T | C | rs8082926 | N | 1.57567003889e-09 | 0.802117 | intergenic | ||||||||||||||
chr18 | 30352057 | 30352096 | GCGCCGGCCCGCCGGCCCGCCGGCCCGCCCGCCCGGGGGA | GCGCCGGCCCGCCGGCCCGCCCGCCCGGGGGA | N | 0.108723260462 | intronic | KLHL14 | kelch-like 14 (Drosophila) | Hep-G2 | thyroid gland | ||||||||||||
chr18 | 32847451 | 32847465 | CCGGCGGCGGCGGGA | CCGGCGGCGGGA | N | 0.486632794142 | 5-UTR | ZSCAN30 | NM_001166012 | zinc finger and SCAN domain containing 30 | U-138-MG | thyroid gland | |||||||||||
chr18 | 32917780 | 32917790 | GAAAAGAAACC | GAAAAAGAAACC | N | 0.324020087719 | intronic | ZNF24 | HL-60 | thyroid gland | |||||||||||||
chr18 | 33048554 | 33048554 | C | T | rs3088182 | N | 3.34233627655e-05 | 0.23742 | 3-UTR | INO80C | NM_001308064 NM_001098817 NM_194281 | U-698 | testis | ||||||||||
chr18 | 43420177 | 43420177 | G | A | rs61104666 | N | 3.75674291675e-09 | 0.252995 | synonymous SNV | SIGLEC15 | NM_213602 | 5 | 876 | 292 | E=>E | sialic acid binding Ig-like lectin 15 | U-87-MG | small intestine | |||||
chr18 | 43844658 | 43844658 | A | C | rs8086610 | N | 1.60964430052e-06 | 0.533147 | 3-UTR | C18orf25 | NM_001008239 NM_145055 | HaCaT | esophagus | ||||||||||
chr18 | 44337138 | 44337138 | G | T | N | 3.87071049772e-05 | 0.000399361 | upstream | ST8SIA5 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 | WM-115 | adrenal gland | |||||||||||
chr18 | 44338072 | 44338072 | T | C | rs3809961 | N | 7.4003651207e-08 | 0.615016 | upstream | ST8SIA5 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 | WM-115 | adrenal gland | ||||||||||
chr18 | 45711740 | 45711740 | T | C | rs12455480 | N | 2.23994493354e-06 | 0.203075 | intronic | ZBTB7C | zinc finger and BTB domain containing 7C | RT-4 | esophagus | ||||||||||
chr18 | 46004809 | 46004809 | T | C | rs7231325 | N | 4.80447279183e-12 | 0.909944 | intergenic | ||||||||||||||
chr18 | 46385948 | 46385948 | A | G | rs3752082 | N | 1.08593667392e-06 | 0.573882 | 3-UTR | CTIF | NM_001142397 NM_014772 | CBP80/20-dependent translation initiation factor | U-2-OS | adipose tissue | |||||||||
chr18 | 46387889 | 46387889 | A | G | rs3809921 | N | 2.51902925186e-08 | 0.570687 | 3-UTR | CTIF | NM_001142397 NM_014772 | CBP80/20-dependent translation initiation factor | U-2-OS | adipose tissue | |||||||||
chr18 | 50432602 | 50432602 | C | G | rs2229080 | N | 6.56924885334e-06 | 0.477436 | N | P | P | N | nonsynonymous SNV | DCC | NM_005215 | 3 | 601 | 201 | R=>G | deleted in colorectal carcinoma | U-266/70 | testis | |
chr18 | 52814348 | 52814348 | C | T | rs56291064 | N | 9.5080366691e-07 | 0.239417 | intergenic | ||||||||||||||
chr18 | 5629174 | 5629174 | A | G | rs12051981 | N | 2.48244589329e-08 | 0.924321 | upstream | EPB41L3 | TIME | testis | |||||||||||
chr18 | 57597842 | 57597842 | T | C | rs9952602 | N | 4.29047624095e-08 | 0.920327 | intergenic | ||||||||||||||
chr18 | 5892517 | 5892517 | T | C | rs9948128 | N | 3.51735141013e-10 | 0.5002 | upstream | TMEM200C | PC-3 | adrenal gland | |||||||||||
chr18 | 61393834 | 61393834 | C | T | rs931850 | N | 2.41503983034e-07 | 0.704673 | intergenic | ||||||||||||||
chr18 | 6511103 | 6511103 | T | C | rs4798451 | N | 1.31536066761e-11 | 0.970248 | upstream | LINC01387 | |||||||||||||
chr18 | 67614674 | 67614689 | TAAAAAAAAAAATTGC | TAAAAAAAAAAAATTGC | N | 1.32844322209e-08 | 5-UTR | CD226 | NM_001303618 | CD226 antigen | HEL | spleen | |||||||||||
chr18 | 70210781 | 70210781 | G | A | rs4961397 | N | 7.82467868277e-09 | 0.46845 | intronic | CBLN2 | cerebellin 2 precursor protein | SH-SY5Y | cerebral cortex | ||||||||||
chr18 | 72188574 | 72188578 | TAACG | TACG | N | 0.0492598302662 | 3-UTR | CNDP2 | NM_018235 NM_001168499 | CNDP dipeptidase 2 (metallopeptidase M20 family) | RPMI-8226 | kidney | |||||||||||
chr18 | 74272711 | 74272711 | G | A | rs7228932 | N | 3.26798317474e-06 | 0.413538 | downstream | LINC00908 | THP-1 | ovary | |||||||||||
chr18 | 74272743 | 74272743 | T | A | rs7234659 | N | 8.95659127309e-07 | 0.515775 | downstream | LINC00908 | THP-1 | ovary | |||||||||||
chr18 | 74471133 | 74471133 | G | C | rs60137918 | N | 5.91719299337e-07 | 0.26278 | intergenic | ||||||||||||||
chr18 | 74961675 | 74961675 | T | G | rs11151014 | N | 8.95957346074e-05 | 0.355831 | upstream | GALR1 | galanin receptor 1 | SCLC-21H | adrenal gland | ||||||||||
chr18 | 74961687 | 74961687 | A | G | rs11151015 | N | 1.05130075099e-05 | 0.359425 | upstream | GALR1 | galanin receptor 1 | SCLC-21H | adrenal gland | ||||||||||
chr18 | 77246406 | 77246406 | T | G | rs754093 | N | 4.07174127304e-07 | 0.338858 | D | P | N | N | nonsynonymous SNV | NFATC1 | NM_006162 NM_172388 NM_172387 NM_172389 NM_001278673 NM_001278669 | 9,8,9,9,8,9 | 2251,751,835,279,2212,738,2212,738,835,279,2251,751 | 751,279,738,738,279,751 | C=>G,C=>G,C=>G,C=>G,C=>G,C=>G | nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1 | U-698 | lymph node | |
chr18 | 77349874 | 77349874 | A | G | rs4465664 | N | 1.00651625923e-10 | 0.70627 | intergenic | ||||||||||||||
chr18 | 77439258 | 77439258 | A | G | rs978579 | N | 0.486632794142 | 0.738219 | ncRNA | LOC284241 | |||||||||||||
chr19 | 10197488 | 10197490 | GGC | GCGC | D | 0.999987483025 | intronic | C19orf66 | SK-MEL-30 | liver | |||||||||||||
chr19 | 10334443 | 10334443 | A | C | rs2116941 | N | 4.81630024751e-07 | 0.772764 | 3-UTR | S1PR2 | NM_004230 | U-698 | placenta | ||||||||||
chr19 | 10446568 | 10446568 | T | C | rs2304237 | N | 0.000229792029131 | 0.179513 | N | N | N | N | nonsynonymous SNV | ICAM3 | NM_002162 | 3 | 428 | 143 | P=>R | Karpas-707 | bone marrow | ||
chr19 | 10449358 | 10449358 | T | C | rs7258015 | N | 1.16986313969e-08 | 0.178914 | N | N | N | N | nonsynonymous SNV | ICAM3 | NM_002162 | 2 | 343 | 115 | P=>A | Karpas-707 | bone marrow | ||
chr19 | 10664632 | 10664632 | A | G | rs3087689 | N | 1.4159550199e-09 | 0.294529 | D | N | N | N | nonsynonymous SNV | KRI1 | NM_023008 | 19 | 2125 | 709 | S=>P | KRI1 homolog (S. cerevisiae) | HEL | lymph node | |
chr19 | 10794793 | 10794793 | C | T | rs892087 | N | 3.53517819462e-08 | 0.572484 | intronic | ILF3 | interleukin enhancer binding factor 3 | NB-4 | bone marrow | ||||||||||
chr19 | 10824435 | 10824453 | CTTTTTTTTTTTTTTCCGA | CTTTTTTTTTTTTTCCGA | N | 0.0295836105943 | downstream | QTRT1 | queuine tRNA-ribosyltransferase 1 | NB-4 | colon | ||||||||||||
chr19 | 11266584 | 11266584 | A | G | rs892114 | N | 0.486632794142 | 0.719649 | upstream | SPC24 | Karpas-707 | bone marrow | |||||||||||
chr19 | 11358799 | 11358799 | G | A | rs12978266 | N | 1.33938399927e-07 | 0.519569 | D | D | P | N | nonsynonymous SNV | DOCK6 | NM_020812 | 7 | 749 | 250 | P=>L | dedicator of cytokinesis 6 | TIME | adipose tissue | |
chr19 | 11373641 | 11373641 | G | A | rs56965685 | N | 1.12756185899e-06 | 0.55651 | upstream | DOCK6 | dedicator of cytokinesis 6 | TIME | adipose tissue | ||||||||||
chr19 | 11459665 | 11459667 | GAG | GAAG | N | 0.000146206089994 | intronic | CCDC159 | coiled-coil domain containing 159 | Karpas-707 | prostate | ||||||||||||
chr19 | 11508177 | 11508177 | G | A | rs2291516 | N | 7.43544933357e-06 | 0.210463 | N | N | N | N | nonsynonymous SNV | RGL3 | NM_001161616 NM_001035223 | 17,17 | 1861,1843 | 621,615 | R=>C,R=>C | ral guanine nucleotide dissociation stimulator-like 3 | BEWO | thyroid gland | |
chr19 | 11530702 | 11530702 | T | C | rs318694 | N | 6.47495994599e-08 | 0.957268 | upstream,downstream | RGL3;CCDC151 | |||||||||||||
chr19 | 11727503 | 11727503 | T | C | rs4545929 | N | 2.28489449583e-09 | 0.384585 | intronic | ZNF627 | SCLC-21H | thyroid gland | |||||||||||
chr19 | 11871706 | 11871706 | G | C | rs6511754 | N | 2.63796778199e-07 | 0.622204 | intergenic | ||||||||||||||
chr19 | 12090765 | 12090765 | C | A | rs279142 | N | 3.40048457341e-17 | 0.85643 | 3-UTR | ZNF763 | NM_001012753 | BEWO | ovary | ||||||||||
chr19 | 1257537 | 1257539 | CGT | CTCTGT | D | 0.999999761581 | 3-UTR | MIDN | NM_177401 | midnolin | NTERA-2 | bone marrow | |||||||||||
chr19 | 12687356 | 12687356 | G | C | rs8101987 | N | 1.07080122689e-05 | 0.465256 | 3-UTR | ZNF490 | NM_020714 | U-266/84 | thyroid gland | ||||||||||
chr19 | 13002400 | 13002400 | G | C | rs1799918 | N | 0.000329057016643 | 0.253195 | intronic | GCDH | glutaryl-Coenzyme A dehydrogenase | U-266/70 | liver | ||||||||||
chr19 | 13079984 | 13079984 | T | C | rs7250153 | N | 3.50332922394e-11 | 1 | upstream | DAND5 | SH-SY5Y | heart muscle | |||||||||||
chr19 | 13946886 | 13946886 | T | C | rs345638 | N | 1.14993760292e-07 | 0.997804 | ncRNA | LOC284454 | |||||||||||||
chr19 | 14183577 | 14183577 | C | G | rs899170 | N | 9.27275820573e-08 | 0.492812 | upstream | MIR1199 MISP3 | |||||||||||||
chr19 | 14185226 | 14185226 | T | C | rs7258963 | N | 0.00814404524863 | 0.496006 | N | N | nonsynonymous SNV | MISP3 | NM_001291291 | 2 | 593 | 198 | V=>A | ||||||
chr19 | 14191694 | 14191721 | GGGGGAGGGGAGGGGAGGGGAGGAGAAC | GGGGGAGGGGAGGGGAGGAGAAC | N | 0.130821689963 | downstream | C19orf67 | Daudi | testis | |||||||||||||
chr19 | 14779550 | 14779550 | C | A | rs4239642 | N | 1.8829369175e-09 | 0.857428 | intronic | ADGRE3 | |||||||||||||
chr19 | 14975693 | 14975693 | T | A | rs11085913 | N | 2.72706870419e-07 | 0.835463 | intergenic | ||||||||||||||
chr19 | 1507535 | 1507535 | T | C | rs791461 | N | 2.08197988627e-07 | 0.534944 | intronic | ADAMTSL5 | ADAMTS-like 5 | CACO-2 | heart muscle | ||||||||||
chr19 | 15198631 | 15198631 | A | C | rs8105737 | N | 3.52098933343e-10 | 0.490815 | D | D | D | N | nonsynonymous SNV | OR1I1 | NM_001004713 | 1 | 755 | 252 | Y=>S | A-431 | adipose tissue | ||
chr19 | 1526931 | 1526931 | A | C | rs2656858 | N | 7.90670376394e-11 | 0.689097 | 5-UTR | PLK5 | NM_001243079 | polo-like kinase 5 | Daudi | testis | |||||||||
chr19 | 1535349 | 1535349 | G | A | rs265281 | N | 5.78830814391e-08 | 0.768171 | 3-UTR | PLK5 | NM_001243079 | polo-like kinase 5 | Daudi | testis | |||||||||
chr19 | 15770018 | 15770020 | TCC | CCT | N | 0.00249279197305 | intronic | CYP4F3 | CAPAN-2 | liver | |||||||||||||
chr19 | 15783162 | 15783162 | G | A | rs5022665 | N | 1.57198467576e-08 | 0.927117 | upstream | CYP4F12 | HaCaT | duodenum | |||||||||||
chr19 | 15838746 | 15838746 | A | G | rs11672695 | N | 7.58750672958e-07 | 0.557708 | upstream | OR10H2 | RT-4 | urinary bladder | |||||||||||
chr19 | 15838753 | 15838759 | AGGCGCT | AGCGCT | N | 0.486632794142 | upstream | OR10H2 | RT-4 | urinary bladder | |||||||||||||
chr19 | 15905941 | 15905941 | T | C | rs56117700 | N | 1.01322825685e-06 | 0.713259 | downstream | OR10H5 | A-431 | testis | |||||||||||
chr19 | 16222296 | 16222296 | A | C | rs16981113 | N | 0.486632794142 | 0.195487 | upstream | RAB8A | RAB8A, member RAS oncogene family | HEL | liver | ||||||||||
chr19 | 16222325 | 16222325 | G | C | rs62117903 | N | 0.196164935827 | 0.195487 | upstream | RAB8A | RAB8A, member RAS oncogene family | HEL | liver | ||||||||||
chr19 | 16589750 | 16589750 | T | C | rs8103521 | N | 2.23736705607e-07 | 0.659944 | downstream | CALR3 | calreticulin 3 | BEWO | testis | ||||||||||
chr19 | 16988456 | 16988456 | A | G | rs2303090 | N | 6.85437262504e-11 | 0.633586 | intronic | SIN3B | transcriptional regulator, SIN3B (yeast) | BEWO | uterus | ||||||||||
chr19 | 17488607 | 17488607 | G | A | rs7257450 | N | 2.08745823329e-05 | 0.48742 | upstream | PLVAP | EFO-21 | thyroid gland | |||||||||||
chr19 | 17513715 | 17513715 | T | G | rs2303683 | N | 5.48437988357e-08 | 0.860024 | downstream | BST2 | bone marrow stromal cell antigen 2 | Karpas-707 | ovary | ||||||||||
chr19 | 17617375 | 17617375 | G | A | rs111740359 | N | 0.00018867617473 | 0.363019 | downstream | SLC27A1 | solute carrier family 27 (fatty acid transporter), member 1 | SK-MEL-30 | ovary | ||||||||||
chr19 | 17622391 | 17622391 | A | G | rs879142 | N | 0.428339898586 | 0.347843 | upstream | PGLS | PC-3 | spleen | |||||||||||
chr19 | 17643065 | 17643065 | T | C | rs12984143 | N | 8.99822012457e-08 | 0.744209 | intronic | FAM129C | family with sequence similarity 129, member C | Daudi | spleen | ||||||||||
chr19 | 17692324 | 17692324 | T | G | rs8100092 | N | 1.44444967098e-09 | 0.82488 | 3-UTR | COLGALT1 | NM_024656 | U-937 | placenta | ||||||||||
chr19 | 1780509 | 1780509 | T | C | rs7250253 | N | 2.24511564895e-09 | 0.463458 | intergenic | ||||||||||||||
chr19 | 18272190 | 18272190 | A | C | rs2241088 | N | 0.374144166708 | 0.923922 | N | N | N | N | nonsynonymous SNV | PIK3R2 | NM_005027 | 6 | 700 | 234 | S=>R | phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 2 (p85 beta) | HEK-293 | skin | |
chr19 | 21984439 | 21984439 | T | C | rs2359707 | N | 3.84127885056e-09 | 0.952276 | intergenic | ||||||||||||||
chr19 | 22380017 | 22380017 | G | A | rs1852428 | N | 8.53810161061e-06 | 0.441294 | upstream | ZNF676 | NTERA-2 | testis | |||||||||||
chr19 | 2274359 | 2274359 | C | T | rs12985247 | N | 0.00679493090138 | 0.276558 | downstream | C19orf35 OAZ1 | |||||||||||||
chr19 | 23089316 | 23089316 | A | G | rs3862488 | N | 4.28591029333e-09 | 0.884784 | intergenic | ||||||||||||||
chr19 | 2520716 | 2520716 | T | C | rs1133692 | N | 2.9128608503e-07 | 0.566494 | 5-UTR | GNG7 | NM_052847 | REH | cerebral cortex | ||||||||||
chr19 | 2642566 | 2642566 | G | A | rs112167953 | N | 0.000232366015553 | 0.101637 | intronic | GNG7 | REH | cerebral cortex | |||||||||||
chr19 | 2897515 | 2897515 | G | A | rs12982838 | N | 2.79651931123e-06 | 0.754193 | intergenic | ||||||||||||||
chr19 | 2900865 | 2900865 | G | A | rs10420989 | N | 0.0848807394505 | 0.842252 | upstream | ZNF57 | RH-30 | testis | |||||||||||
chr19 | 292082 | 292082 | C | T | rs3813154 | N | 8.13244405435e-05 | 0.449081 | upstream | PLPP2 | |||||||||||||
chr19 | 29505196 | 29505200 | ACACG | CCACA | N | 9.12626492209e-05 | downstream | LINC01532 | |||||||||||||||
chr19 | 33467620 | 33467620 | T | C | rs7247715 | N | 7.26152151742e-08 | 0.936701 | 3-UTR | FAAP24 | NM_001300978 NM_152266 | ||||||||||||
chr19 | 33879483 | 33879483 | A | G | rs889136 | N | 9.56745932479e-11 | 0.992013 | intronic | PEPD | peptidase D | A-549 | kidney | ||||||||||
chr19 | 34859457 | 34859457 | G | A | rs2099099 | N | 5.11205227455e-12 | 0.685903 | intronic | GPI | A-549 | heart muscle | |||||||||||
chr19 | 35168629 | 35168629 | G | A | rs8106282 | N | 0.486632794142 | 0.0840655 | 5-UTR | ZNF302 | NM_001012320 NM_001289181 NM_001289182 NM_001289183 NM_001289184 NM_001289185 NM_001289186 NM_001289187 NM_001289188 NM_001289189 NM_001289190 NM_001289191 NM_001289192 NM_018443 NM_018675 | U-266/84 | ovary | ||||||||||
chr19 | 35434238 | 35434238 | A | G | rs1811 | N | 2.99817982941e-11 | 0.586062 | N | N | N | N | nonsynonymous SNV | ZNF30 | NM_194325 NM_001099438 NM_001099437 | 5,5,5 | 368,371,371 | 123,124,124 | Q=>R,Q=>R,Q=>R | U-266/84 | urinary bladder | ||
chr19 | 35435006 | 35435006 | G | A | rs1345658 | N | 2.14234672985e-30 | 0.652356 | N | N | N | N | nonsynonymous SNV | ZNF30 | NM_194325 NM_001099438 NM_001099437 | 5,5,5 | 1136,1139,1139 | 379,380,380 | R=>K,R=>K,R=>K | U-266/84 | urinary bladder | ||
chr19 | 35454604 | 35454605 | AA | CG | N | 0.0423128455877 | 5-UTR | ZNF792 | NM_175872 | HMC-1 | lung | ||||||||||||
chr19 | 35655151 | 35655151 | T | C | rs1672994 | N | 0.00598330702633 | 0.847444 | intronic | FXYD5 | FXYD domain-containing ion transport regulator 5 | Karpas-707 | bone marrow | ||||||||||
chr19 | 35660508 | 35660508 | G | A | rs12110 | N | 7.41514384117e-07 | 0.874002 | N | N | N | N | nonsynonymous SNV | FXYD5 | NM_001164605 NM_144779 NM_014164 | 9,9,9 | 527,527,527 | 176,176,176 | R=>H,R=>H,R=>H | FXYD domain-containing ion transport regulator 5 | Karpas-707 | bone marrow | |
chr19 | 35841858 | 35841858 | G | A | rs1978014 | N | 4.10571104892e-10 | 0.739417 | upstream | FFAR1 | U-698 | pancreas | |||||||||||
chr19 | 35843983 | 35843990 | ACCCCACG | ACCCCCACG | N | 0.486632794142 | downstream | FFAR1 | U-698 | pancreas | |||||||||||||
chr19 | 35850863 | 35850863 | A | G | rs62109583 | N | 1.16205729483e-08 | 0.792133 | 3-UTR | FFAR3 | NM_005304 | RPMI-8226 | appendix | ||||||||||
chr19 | 35889429 | 35889429 | C | A | rs12978607 | N | 5.11119833391e-06 | 0.63778 | intergenic | ||||||||||||||
chr19 | 36236120 | 36236120 | A | G | rs231597 | N | 0.0402644686401 | 0.984026 | intronic | U2AF1L4 | HMC-1 | thyroid gland | |||||||||||
chr19 | 374016 | 374016 | G | A | rs2303815 | N | 6.60068108118e-05 | 0.128395 | intronic | THEG | testicular haploid expressed gene | HDLM-2 | testis | ||||||||||
chr19 | 37441980 | 37441980 | A | G | rs1644634 | N | 1.28121041554e-10 | 0.547923 | N | N | N | N | nonsynonymous SNV | ZNF568 | NM_198539 NM_001204835 NM_001204837 NM_001204836 | 7,7,5,6 | 1925,1922,1733,1733 | 642,641,578,578 | Q=>R,Q=>R,Q=>R,Q=>R | U-266/84 | ovary | ||
chr19 | 37482068 | 37482068 | T | G | rs1644679 | N | 2.54489123108e-06 | 0.500399 | intronic | ZNF568 | U-266/84 | ovary | |||||||||||
chr19 | 37488299 | 37488299 | A | G | rs1363752 | N | 3.00546289245e-11 | 0.496406 | N | N | N | N | nonsynonymous SNV | ZNF568 | NM_001204838 NM_001204839 | 10,9 | 1706,1514 | 569,505 | E=>G,E=>G | U-266/84 | ovary | ||
chr19 | 37488472 | 37488472 | C | G | rs1644698 | N | 6.49217398591e-12 | 0.497005 | N | N | N | N | nonsynonymous SNV | ZNF568 | NM_001204838 NM_001204839 | 10,9 | 1879,1687 | 627,563 | P=>A,P=>A | U-266/84 | ovary | ||
chr19 | 37488677 | 37488689 | GAAAAAAAAACTT | GAAAAAAAAAACTT | N | 0.00874592643231 | 3-UTR | ZNF568 | NM_001204838 NM_001204839 | U-266/84 | ovary | ||||||||||||
chr19 | 37488845 | 37488845 | G | C | rs2547044 | N | 4.31132917811e-07 | 0.496406 | downstream | ZNF568 | U-266/84 | ovary | |||||||||||
chr19 | 3775856 | 3775856 | C | T | rs10410666 | N | 1.08850649383e-07 | 0.833666 | ncRNA | MIR1268A | |||||||||||||
chr19 | 38708398 | 38708398 | A | C | rs2304175 | N | 9.15790909772e-09 | 0.828474 | intronic | DPF1 | D4, zinc and double PHD fingers family 1 | SCLC-21H | cerebral cortex | ||||||||||
chr19 | 38709568 | 38709568 | C | T | rs2255456 | N | 2.98770402196e-07 | 0.825679 | intronic | DPF1 | D4, zinc and double PHD fingers family 1 | SCLC-21H | cerebral cortex | ||||||||||
chr19 | 38747117 | 38747117 | A | G | rs8100395 | N | 0.232276841998 | 0.52516 | 5-UTR | PPP1R14A | NM_001243947 NM_033256 | protein phosphatase 1, regulatory (inhibitor) subunit 14A | A-549 | adipose tissue | |||||||||
chr19 | 38747272 | 38747272 | T | C | rs7247241 | N | 0.0554680526257 | 0.52476 | upstream | PPP1R14A | protein phosphatase 1, regulatory (inhibitor) subunit 14A | A-549 | adipose tissue | ||||||||||
chr19 | 39221947 | 39221947 | A | T | rs4801859 | N | 4.12538447847e-09 | 0.258387 | intronic | CAPN12 | calpain 12 | HMC-1 | gallbladder | ||||||||||
chr19 | 3924771 | 3924787 | ATTTTTTTTTTTTAACG | ATTTTTTTTTTTAACG | N | 0.0160565990955 | ncRNA | MIR1268A | |||||||||||||||
chr19 | 39435485 | 39435485 | G | A | rs10416055 | N | 7.60025272939e-07 | 0.830471 | intronic | FBXO17 | F-box protein 17 | A-549 | kidney | ||||||||||
chr19 | 40073865 | 40073865 | A | G | rs1433106 | N | 1.48277209178e-07 | 0.747204 | intergenic | ||||||||||||||
chr19 | 40721877 | 40721877 | G | C | rs8106744 | N | 0.000909123569727 | 0.76238 | downstream | MAP3K10 TTC9B | |||||||||||||
chr19 | 41036491 | 41036491 | G | A | rs111741904 | N | 0.486632794142 | 0.320487 | 5-UTR | SPTBN4 | NM_025213 | Karpas-707 | cerebral cortex | ||||||||||
chr19 | 41038574 | 41038574 | G | A | rs814501 | N | 3.61261709259e-06 | 0.322684 | N | P | N | N | nonsynonymous SNV | SPTBN4 | NM_020971 NM_025213 | 19,2 | 3991,19 | 1331,7 | G=>S,G=>S | Karpas-707 | cerebral cortex | ||
chr19 | 41077891 | 41077891 | C | T | rs8101070 | N | 6.46347252768e-05 | 0.30651 | intronic | SPTBN4 | Karpas-707 | cerebral cortex | |||||||||||
chr19 | 41350664 | 41350664 | A | T | rs1809810 | N | 2.04798666914e-09 | 0.986422 | nonsynonymous SNV | CYP2A6 | NM_000762 | 8 | 1175 | 392 | F=>Y | TEGAFUR, POOR METABOLISM OF CYP2A6*11 | HL-60 | liver | |||||
chr19 | 41383799 | 41383799 | G | A | rs3869579 | N | 0.00874247867614 | 0.519169 | D | D | D | N | nonsynonymous SNV | CYP2A7 | NM_000764 NM_030589 | 6,5 | 931,778 | 311,260 | R=>C,R=>C | A-431 | liver | ||
chr19 | 41386136 | 41386136 | A | C | rs4142867 | N | 0.000541743764188 | 0.519169 | N | N | N | N | nonsynonymous SNV | CYP2A7 | NM_000764 NM_030589 | 4,3 | 507,354 | 169,118 | D=>E,D=>E | A-431 | liver | ||
chr19 | 41386486 | 41386487 | CA | AG | N | 0.0195694863796 | nonframeshift substitution | CYP2A7 | NM_000764 NM_030589 | 3,2 | 390,237 | A-431 | liver | ||||||||||
chr19 | 41386494 | 41386494 | A | C | rs3815710 | N | 2.23429851758e-05 | 0.514976 | N | N | N | N | nonsynonymous SNV | CYP2A7 | NM_000764 NM_030589 | 3,2 | 383,230 | 128,77 | L=>R,L=>R | A-431 | liver | ||
chr19 | 41388707 | 41388707 | T | C | rs3797218 | N | 5.22786240253e-06 | 0.514177 | upstream | CYP2A7 | A-431 | liver | |||||||||||
chr19 | 41903220 | 41903220 | G | A | rs10853751 | N | 0.486632794142 | 0.614417 | N | N | N | N | nonsynonymous SNV | EXOSC5 | NM_020158 | 1 | 14 | 5 | T=>M | HEK-293 | lymph node | ||
chr19 | 41919944 | 41919944 | A | C | rs3213861 | N | 1.66474819707e-05 | 0.616014 | intronic | BCKDHA | branched chain ketoacid dehydrogenase E1, alpha polypeptide | U-266/70 | heart muscle | ||||||||||
chr19 | 41928867 | 41928875 | GCCCACACT | GCCCCACACT | D | 0.570549249649 | intronic | BCKDHA | branched chain ketoacid dehydrogenase E1, alpha polypeptide | U-266/70 | heart muscle | ||||||||||||
chr19 | 41931454 | 41931458 | AGGCC | AGGCCAGGGCCGGGGCC | N | 1.14649619718e-05 | 3-UTR | B3GNT8 | NM_198540 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 | HMC-1 | duodenum | |||||||||||
chr19 | 4294623 | 4294623 | C | A | rs58237134 | N | 0.000133773006382 | 0.178514 | N | N | N | N | nonsynonymous SNV | TMIGD2 | NM_001169126 NM_001308232 NM_144615 | 4,3,4 | 503,143,503 | 168,48,168 | W=>L,W=>L,W=>L | HEL | lymph node | ||
chr19 | 4302504 | 4302504 | C | G | rs888933 | N | 2.56455656711e-08 | 0.382987 | upstream | TMIGD2 | HEL | lymph node | |||||||||||
chr19 | 4306311 | 4306311 | T | C | rs4807578 | N | 2.02779943947e-07 | 0.583267 | synonymous SNV | FSD1 | NM_024333 | 3 | 228 | 76 | R=>R | fibronectin type 3 and SPRY domain-containing protein | SH-SY5Y | cerebral cortex | |||||
chr19 | 43243217 | 43243218 | AA | GG | N | 0.000141227952554 | nonframeshift substitution | PSG3 | NM_021016 | 2 | 88 | U-2197 | placenta | ||||||||||
chr19 | 43243248 | 43243248 | G | A | rs12185500 | N | 1.26297507563e-07 | 0.656749 | intronic | PSG3 | U-2197 | placenta | |||||||||||
chr19 | 43371157 | 43371157 | C | G | rs1058817 | N | 0.000705114856828 | 0.403754 | 3-UTR | PSG1 | NM_001184825 NM_001184826 | U-2197 | placenta | ||||||||||
chr19 | 43382368 | 43382368 | T | G | rs707745 | N | 0.000228171425988 | 0.432308 | N | N | N | N | nonsynonymous SNV | PSG1 | NM_001184826 NM_006905 NM_001184825 NM_001297773 | 2,2,2,2 | 127,127,127,127 | 43,43,43,43 | T=>P,T=>P,T=>P,T=>P | U-2197 | placenta | ||
chr19 | 43382558 | 43382585 | AACACACACACACACACACACACAAAAG | AACACACACACACACACACACAAAAG | N | 0.0108073400334 | intronic | PSG1 | U-2197 | placenta | |||||||||||||
chr19 | 43420451 | 43420451 | G | C | rs3198831 | N | 1.48155886563e-05 | 0.453474 | N | N | N | N | nonsynonymous SNV | PSG6 | NM_001031850 NM_002782 | 2,2 | 253,253 | 85,85 | H=>D,H=>D | U-2197 | placenta | ||
chr19 | 44050195 | 44050195 | C | T | rs25479 | N | 0.00202819029801 | 0.289337 | intronic | XRCC1 | X-ray repair complementing defective repair in Chinese hamster cells 1 | MOLT-4 | ovary | ||||||||||
chr19 | 44055726 | 44055726 | T | C | rs25487 | N | 1.74356353e-06 | 0.739617 | N | N | N | N | nonsynonymous SNV | XRCC1 | NM_006297 | 10 | 1196 | 399 | Q=>R | X-ray repair complementing defective repair in Chinese hamster cells 1 | MOLT-4 | ovary | |
chr19 | 44971647 | 44971647 | C | G | rs2571060 | N | 3.52080498089e-08 | 0.739816 | intergenic | ||||||||||||||
chr19 | 45021210 | 45021210 | G | A | rs10414398 | N | 0.000127228166093 | 0.1873 | D | D | nonsynonymous SNV | CEACAM20 | NM_001102600 NM_001102597 | 6,6 | 1106,1106 | 369,369 | S=>F,S=>F | carcinoembryonic antigen-related cell adhesion molecule 20 | |||||
chr19 | 45029208 | 45029208 | G | A | rs10408247 | N | 0.000168579121237 | 0.290535 | N | N | nonsynonymous SNV | CEACAM20 | NM_001102600 NM_001102599 NM_001102598 NM_001102597 | 2,2,2,2 | 122,122,122,122 | 41,41,41,41 | A=>V,A=>V,A=>V,A=>V | carcinoembryonic antigen-related cell adhesion molecule 20 | |||||
chr19 | 45186965 | 45186965 | G | C | rs2289494 | N | 3.95648062923e-11 | 0.860823 | 3-UTR | CEACAM19 | NM_001127893 NM_020219 | TIME | skin | ||||||||||
chr19 | 4525046 | 4525046 | A | G | rs1610090 | N | 5.64503821465e-09 | 0.847244 | N | N | N | N | nonsynonymous SNV | PLIN5 | NM_001013706 | 7 | 763 | 255 | C=>R | BEWO | salivary gland | ||
chr19 | 45267451 | 45267455 | GAGAT | GAGAAGAT | N | 1.39176435709e-07 | intergenic | ||||||||||||||||
chr19 | 45322744 | 45322744 | A | G | rs1135062 | N | 1.48420690493e-06 | 0.270367 | N | N | N | N | nonsynonymous SNV | BCAM | NM_005581 NM_001013257 | 12,12 | 1615,539,1615,539 | 539,539 | T=>A,T=>A | BLOOD GROUP--LUTHERAN NULL | basal cell adhesion molecule | HaCaT | kidney |
chr19 | 45737837 | 45737837 | A | C | rs346748 | N | 1.95034208446e-05 | 0.36262 | upstream | EXOC3L2 | HEL | kidney | |||||||||||
chr19 | 45911309 | 45911342 | CAAAAAAAAACAAAAAAAAAATCAAAAAACCTTC | CAAAAAAAAAACAAAAAAAAAAACAAAAAACCTTC | D | 0.664897859097 | 3-UTR | ERCC1 | NM_001166049 NM_001983 | WM-115 | heart muscle | ||||||||||||
chr19 | 45911309 | 45911342 | CAAAAAAAAACAAAAAAAAAATCAAAAAACCTTC | CAAAAAAAAACAAAAAAAAATCAAAAAACCTTC | D | 0.664897859097 | 3-UTR | ERCC1 | NM_001166049 NM_001983 | WM-115 | heart muscle | ||||||||||||
chr19 | 46213665 | 46213689 | GAAAAAAAAAAAAAAAAAAATCTTG | GAAAAAAAAAAAAAAAAATCTTG | N | 0.0107999052852 | downstream | FBXO46 | F-box protein 46 | HeLa | spleen | ||||||||||||
chr19 | 47736216 | 47736216 | T | C | rs2032809 | N | 0.486632794142 | 0.668331 | upstream | BBC3 | NB-4 | colon | |||||||||||
chr19 | 47777872 | 47777872 | G | A | rs75900606 | N | 0.238315120339 | 0.511981 | upstream | INAFM1 | |||||||||||||
chr19 | 48182371 | 48182371 | C | T | rs57319999 | N | 0.00481736566871 | 0.179113 | intronic | GLTSCR1 | glioma tumor suppressor candidate region gene 1 | SiHa | ovary | ||||||||||
chr19 | 48184474 | 48184474 | C | T | rs3745762 | N | 4.06130908459e-07 | 0.346246 | N | N | N | N | nonsynonymous SNV | GLTSCR1 | NM_015711 | 6 | 2047 | 683 | P=>S | glioma tumor suppressor candidate region gene 1 | SiHa | ovary | |
chr19 | 4844665 | 4844672 | TCCCCTCA | TCCCTCA | D | 0.968319296837 | intronic | PLIN3 | perilipin 3 | U-2197 | esophagus | ||||||||||||
chr19 | 4859937 | 4859937 | T | C | rs8289 | N | 3.60239447161e-08 | 0.633786 | N | N | N | N | nonsynonymous SNV | PLIN3 | NM_001164194 NM_005817 NM_001164189 | 3,3,3 | 166,166,166 | 56,56,56 | I=>V,I=>V,I=>V | perilipin 3 | U-2197 | esophagus | |
chr19 | 48706202 | 48706202 | C | G | rs1965756 | N | 1.05575448384e-09 | 0.823482 | intergenic | ||||||||||||||
chr19 | 48736706 | 48736706 | G | A | rs4802449 | N | 4.91558530484e-05 | 0.398762 | intronic | CARD8 | NB-4 | lymph node | |||||||||||
chr19 | 48737551 | 48737551 | T | C | rs2288877 | N | 0.000242265159613 | 0.269768 | intronic | CARD8 | NB-4 | lymph node | |||||||||||
chr19 | 48737764 | 48737764 | A | G | rs2288876 | N | 5.61353226658e-05 | 0.269369 | synonymous SNV | CARD8 | NM_001184902 NM_001184903 NM_001184900 NM_001184901 NM_014959 | 6,4,3,3,4 | 246,246,246,96,96 | 82,82,82,32,32 | L=>L,L=>L,L=>L,L=>L,L=>L | NB-4 | lymph node | ||||||
chr19 | 4875765 | 4875765 | G | T | rs2602701 | N | 2.02295709073e-07 | 0.590455 | intergenic | ||||||||||||||
chr19 | 48949766 | 48949766 | C | G | rs929743 | N | 0.000667339831125 | 0.663538 | intronic | GRWD1 | glutamate-rich WD repeat containing 1 | NB-4 | lymph node | ||||||||||
chr19 | 4909629 | 4909629 | C | G | rs8103849 | N | 0.486632794142 | 0.350639 | 5-UTR | UHRF1 | NM_001048201 | ubiquitin-like, containing PHD and RING finger domains, 1 | |||||||||||
chr19 | 49102782 | 49102782 | G | A | rs10410524 | N | 2.77747780331e-08 | 0.442891 | downstream | SULT2B1 | sulfotransferase family, cytosolic, 2B, member 1 | CAPAN-2 | esophagus | ||||||||||
chr19 | 49102814 | 49102814 | G | A | rs10415861 | N | 0.486632794142 | 0.303115 | downstream | SULT2B1 | sulfotransferase family, cytosolic, 2B, member 1 | CAPAN-2 | esophagus | ||||||||||
chr19 | 49106995 | 49106995 | G | A | rs3745728 | N | 1.58098264365e-05 | 0.182508 | N | D | P | N | nonsynonymous SNV | FAM83E | NM_017708 | 4 | 932 | 311 | P=>L | family with sequence similarity 83, member E | CAPAN-2 | colon | |
chr19 | 4910889 | 4910889 | G | T | rs2261988 | N | 0.0089443102479 | 0.319888 | exonic | UHRF1 | ubiquitin-like, containing PHD and RING finger domains, 1 | ||||||||||||
chr19 | 49116359 | 49116359 | T | C | rs447802 | N | 6.31302649046e-11 | 0.550919 | N | N | N | N | nonsynonymous SNV | FAM83E | NM_017708 | 1 | 271,91 | 91 | T=>A | family with sequence similarity 83, member E | CAPAN-2 | colon | |
chr19 | 49119900 | 49119936 | CCAGCACAGCACAGCACAGCACAGCACAGCACAGCAC | CCAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCAC | N | 0.308455854654 | intronic | RPL18 | NB-4 | ovary | |||||||||||||
chr19 | 49120434 | 49120434 | C | T | rs369880 | N | 0.00303237978369 | 0.225439 | intronic | RPL18 | NB-4 | ovary | |||||||||||
chr19 | 49122248 | 49122248 | T | C | rs3094287 | N | 0.486632794142 | 0.554912 | intronic | RPL18 | NB-4 | ovary | |||||||||||
chr19 | 49131764 | 49131767 | AAGA | AAGAGA | N | 0.0350917689502 | intronic | SPHK2 | sphingosine kinase 2 | NB-4 | kidney | ||||||||||||
chr19 | 49137897 | 49137908 | GCCCCCCTCGCG | GCCCCCTCGCG | N | 0.486632794142 | intronic | DBP | NB-4 | salivary gland | |||||||||||||
chr19 | 49164740 | 49164740 | T | C | rs281391 | N | 8.12700081119e-30 | 0.606829 | ncRNA | SEC1P | |||||||||||||
chr19 | 49442933 | 49442933 | T | C | rs2270939 | N | 1.20972492823e-06 | 0.453075 | synonymous SNV | DHDH | NM_014475 | 4 | 594 | 198 | S=>S | dihydrodiol dehydrogenase (dimeric) | U-266/84 | kidney | |||||
chr19 | 49445817 | 49445817 | T | C | rs11666105 | N | 5.91904381508e-06 | 0.453474 | N | N | N | N | nonsynonymous SNV | DHDH | NM_014475 | 5 | 740 | 247 | V=>A | dihydrodiol dehydrogenase (dimeric) | U-266/84 | kidney | |
chr19 | 49540093 | 49540093 | A | C | rs10853805 | N | 0.017226068303 | 0.649161 | 5-UTR | CGB1 | NM_033377 | BEWO | placenta | ||||||||||
chr19 | 49556953 | 49556953 | C | G | rs33961691 | N | 8.47233309287e-07 | 0.517173 | downstream | CGB7 | BEWO | placenta | |||||||||||
chr19 | 49558678 | 49558678 | T | G | rs35000456 | N | 0.00395854376256 | 0.267372 | 5-UTR | CGB7 | NM_033142 | BEWO | placenta | ||||||||||
chr19 | 49559329 | 49559329 | G | A | rs3810179 | N | 0.000733103544917 | 0.499002 | upstream | CGB7 | BEWO | placenta | |||||||||||
chr19 | 49930295 | 49930295 | C | G | rs73053944 | N | 0.0980466157198 | 0.0682907 | nonsynonymous SNV | GFY | NM_001195256 | 1 | 608 | 203 | T=>S | SCLC-21H | testis | ||||||
chr19 | 49944730 | 49944732 | CAG | CG | D | 0.936983466148 | 5-UTR | SLC17A7 | NM_020309 | solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 | HMC-1 | cerebral cortex | |||||||||||
chr19 | 50003708 | 50003708 | T | C | rs2914670 | N | 0.0612481683493 | 1 | downstream | MIR150 RPS11 | |||||||||||||
chr19 | 50162909 | 50162909 | C | G | rs7251 | N | 6.33284162177e-06 | 0.484625 | N | N | N | D | nonsynonymous SNV | IRF3 | NM_001571 NM_001197125 NM_001197123 NM_001197126 NM_001197124 NM_001197127 NM_001197122 NM_001197128 | 8,7,8,6,7,6,8,5 | 1280,842,1175,842,899,461,1296,461 | 427,281,392,281,300,154,432,154 | S=>T,S=>T,S=>T,S=>T,S=>T,S=>T,E=>D,S=>T | interferon regulatory factor 3 | U-266/70 | lymph node | |
chr19 | 50167726 | 50167726 | C | G | rs2304207 | N | 0.486632794142 | 0.115016 | nonsynonymous SNV | IRF3 | NM_001197123 | 2 | 34 | 12 | V=>L | interferon regulatory factor 3 | U-266/70 | lymph node | |||||
chr19 | 50168871 | 50168871 | G | A | rs2304206 | N | 0.0 | 0.373003 | 5-UTR | BCL2L12 | NM_001040668 NM_001282516 NM_001282517 NM_001282519 NM_001282520 NM_001282521 NM_138639 | BCL2-like 12 (proline rich) | HEK-293 | lymph node | |||||||||
chr19 | 50169020 | 50169020 | T | C | rs2304204 | N | 1.09586144866e-16 | 0.402756 | 5-UTR | BCL2L12 | NM_001040668 NM_001282516 NM_001282517 NM_001282519 NM_001282520 NM_001282521 NM_138639 NM_001197122 NM_001197123 NM_001197124 NM_001197125 NM_001197126 NM_001197127 NM_001197128 NM_001571 | BCL2-like 12 (proline rich) | HEK-293 | lymph node | |||||||||
chr19 | 5070795 | 5070795 | A | G | rs730292 | N | 0.0111965080723 | 0.0479233 | intronic | KDM4B | lysine (K)-specific demethylase 4B | U-266/70 | thyroid gland | ||||||||||
chr19 | 51164996 | 51165014 | TCACACACACACACACACT | TCACACACACACACACT | N | 3.69445078832e-05 | 3-UTR | SHANK1 | NM_016148 | SH3/ankyrin domain gene 1 | REH | cerebral cortex | |||||||||||
chr19 | 51263296 | 51263296 | C | A | rs4802739 | N | 0.486632794142 | 0.50599 | intergenic | ||||||||||||||
chr19 | 51288968 | 51288970 | GTC | GC | N | 0.0318690612912 | ncRNA | LOC105372440 | |||||||||||||||
chr19 | 51412365 | 51412371 | TGGGGCT | TGGGCT | N | 0.204172328115 | intronic | KLK4 | A-431 | prostate | |||||||||||||
chr19 | 51446077 | 51446077 | C | G | rs2659089 | N | 0.000992817338556 | downstream | KLK5 | kallikrein related-peptidase 5 | A-431 | skin | |||||||||||
chr19 | 51539316 | 51539316 | G | A | rs2691211 | N | 9.90522996958e-10 | 1 | intergenic | ||||||||||||||
chr19 | 51630482 | 51630482 | C | A | rs2258983 | N | 1.73749685928e-05 | 0.67492 | N | N | N | N | nonsynonymous SNV | SIGLEC9 | NM_014441 NM_001198558 | 4,4 | 944,944 | 315,315 | A=>E,A=>E | Karpas-707 | appendix | ||
chr19 | 51715345 | 51715345 | C | T | rs61730558 | N | 1.09802294901e-06 | 0.0738818 | intergenic | ||||||||||||||
chr19 | 518957 | 518957 | C | A | rs117112129 | N | 0.486632794142 | 0.0559105 | N | D | P | N | nonsynonymous SNV | TPGS1 | NM_033513 | 2 | 407 | 136 | P=>Q | tubulin polyglutamylase complex subunit 1 | U-266/70 | adipose tissue | |
chr19 | 52803669 | 52803676 | CTGTGTGA | CTGTGA | D | 0.999022722244 | frameshift substitution | ZNF480 | NM_001297624 NM_144684 | 2,2 | 4,4 | HL-60 | colon | ||||||||||
chr19 | 52887145 | 52887152 | TAAAAATC | TAAAATC | N | 2.58935451711e-05 | frameshift substitution | ZNF880 | NM_001145434 | 4 | 312 | RH-30 | thyroid gland | ||||||||||
chr19 | 52887246 | 52887253 | TCAACAAT | TCAACAACAAT | N | 3.14556818921e-05 | nonframeshift substitution | ZNF880 | NM_001145434 | 4 | 413 | RH-30 | thyroid gland | ||||||||||
chr19 | 52888620 | 52888620 | T | G | rs3170100 | N | 8.28072224976e-05 | 0.416733 | 3-UTR | ZNF880 | NM_001145434 | RH-30 | thyroid gland | ||||||||||
chr19 | 53015487 | 53015493 | AGGAGAA | AGAGAA | N | 0.144445672631 | 3-UTR | ZNF578 | NM_001099694 | U-266/84 | testis | ||||||||||||
chr19 | 53015742 | 53015742 | C | G | rs329939 | N | 0.00324801006354 | 0.165535 | 3-UTR | ZNF578 | NM_001099694 | U-266/84 | testis | ||||||||||
chr19 | 53019376 | 53019377 | TG | CA | N | 0.00206153653562 | 3-UTR | ZNF578 | NM_001099694 | U-266/84 | testis | ||||||||||||
chr19 | 53056953 | 53056953 | G | A | rs329965 | N | 2.84959751298e-05 | 0.217252 | N | P | P | N | nonsynonymous SNV | ZNF808 | NM_001039886 | 5 | 784 | 262 | D=>N | RT-4 | thyroid gland | ||
chr19 | 53073564 | 53073564 | G | T | rs75660813 | N | 0.486632794142 | 0.134385 | 5-UTR | ZNF701 | NM_018260 | RT-4 | lymph node | ||||||||||
chr19 | 53087132 | 53087140 | TAATAAATG | TAATG | D | 0.566096246243 | 3-UTR | ZNF701 | NM_018260 NM_001172655 | RT-4 | lymph node | ||||||||||||
chr19 | 53087149 | 53087149 | T | A | rs111274688 | N | 0.00793346669525 | 0.128794 | 3-UTR | ZNF701 | NM_018260 NM_001172655 | RT-4 | lymph node | ||||||||||
chr19 | 53138422 | 53138422 | A | G | rs10775556 | N | 0.00175858102739 | 0.554313 | 5-UTR | ZNF83 | NM_001277951 | RT-4 | ovary | ||||||||||
chr19 | 53193770 | 53193770 | A | G | rs3745108 | N | 0.0813117995858 | 0.598842 | 5-UTR | ZNF83 | NM_001277945 NM_001277946 NM_001277947 NM_001277948 NM_001277949 | RT-4 | ovary | ||||||||||
chr19 | 53209553 | 53209554 | GG | AT | N | 2.47343155024e-06 | nonframeshift substitution | ZNF611 | NM_030972 NM_001161499 NM_001161500 NM_001161501 | 7,6,5,5 | 754,754,754,547 | RT-4 | gallbladder | ||||||||||
chr19 | 53301876 | 53301884 | ATCCTCCTA | ATCCTA | D | 0.914032161236 | 3-UTR | ZNF28 | NM_006969 | RT-4 | urinary bladder | ||||||||||||
chr19 | 53343534 | 53343535 | GT | AC | N | 0.320124953985 | 3-UTR | ZNF468 | NM_001008801 NM_001277120 | RT-4 | thyroid gland | ||||||||||||
chr19 | 53344118 | 53344118 | C | G | rs10419826 | N | 0.230721130967 | 0.579872 | N | N | N | nonsynonymous SNV | ZNF468 | NM_001008801 | 4 | 1429 | 477 | G=>R | RT-4 | thyroid gland | |||
chr19 | 53352568 | 53352568 | A | G | rs7253133 | N | 0.000222945658606 | 0.264177 | intronic | ZNF468 | RT-4 | thyroid gland | |||||||||||
chr19 | 53357306 | 53357308 | CTG | CATG | D | 0.999870181084 | intronic | ZNF468 | RT-4 | thyroid gland | |||||||||||||
chr19 | 53418420 | 53418420 | A | C | rs4803020 | N | 0.000682630052324 | 0.257788 | intronic | ZNF888 | |||||||||||||
chr19 | 53421387 | 53421387 | C | T | rs76201701 | N | 0.0223753191531 | 0.0457268 | upstream | ZNF888 | |||||||||||||
chr19 | 53454543 | 53454543 | G | A | rs11084210 | N | 4.12649114878e-06 | 0.146166 | N | N | N | N | nonsynonymous SNV | ZNF816 | NM_001202456 NM_001202457 NM_001031665 | 4,4,5 | 485,485,485 | 162,162,162 | S=>L,S=>L,S=>L | RT-4 | prostate | ||
chr19 | 53577419 | 53577419 | G | C | rs8105668 | N | 1.21711907219e-09 | 0.759984 | N | N | N | N | nonsynonymous SNV | ZNF160 | NM_001102603 NM_198893 NM_033288 | 6,6,5 | 245,245,245 | 82,82,82 | P=>R,P=>R,P=>R | RT-4 | spleen | ||
chr19 | 53611802 | 53611802 | T | G | rs61733666 | N | 8.32404475659e-05 | 0.0197684 | D | P | N | N | nonsynonymous SNV | ZNF415 | NM_018355 NM_001164309 NM_001136038 | 4,4,4 | 1496,1496,1496 | 499,499,499 | N=>T,N=>T,N=>T | RT-4 | testis | ||
chr19 | 53667637 | 53667637 | C | T | rs4803054 | N | 2.037736067e-06 | 0.517772 | 3-UTR | ZNF665 | NM_024733 | MOLT-4 | ovary | ||||||||||
chr19 | 53760825 | 53760825 | C | T | rs2914370 | N | 3.36878969165e-08 | 0.557508 | upstream | VN1R2 | A-431 | testis | |||||||||||
chr19 | 53916061 | 53916061 | T | C | rs10404435 | N | 1.72846648638e-06 | 0.771765 | downstream | ZNF765 | RT-4 | ovary | |||||||||||
chr19 | 53970930 | 53970930 | T | C | rs1968829 | N | 0.212004676461 | 0.379792 | upstream | ZNF813 | RT-4 | prostate | |||||||||||
chr19 | 54058931 | 54058931 | C | G | rs6509790 | N | 1.38449024689e-06 | 0.730032 | intronic | ZNF331 | HEK-293 | adrenal gland | |||||||||||
chr19 | 54177273 | 54177273 | T | C | rs7258128 | N | 1.18445395856e-05 | 0.457867 | upstream | MIR498 | |||||||||||||
chr19 | 54182249 | 54182249 | T | C | rs7256893 | N | 3.38076897606e-05 | 0.285343 | upstream | MIR515-1 MIR515-2 MIR519E | |||||||||||||
chr19 | 54257185 | 54257185 | C | G | rs611356 | N | 2.01017385848e-07 | 0.754593 | upstream | MIR527 | |||||||||||||
chr19 | 54257190 | 54257191 | AC | GA | N | 0.000754279200919 | upstream | MIR527 | |||||||||||||||
chr19 | 54261669 | 54261669 | G | T | rs683060 | N | 6.39630286514e-08 | 0.836861 | downstream | MIR1283-2 | |||||||||||||
chr19 | 54265779 | 54265791 | GTTTTTTTTTCCA | GTTTTTTTTCCA | N | 0.0115886591375 | downstream | MIR519A2 | |||||||||||||||
chr19 | 54291738 | 54291763 | GAAAAAAAAAAAAAAAAACAGCAGCT | GAAAAAAAAAAAAAAAAAAACAGCAGCT | N | 0.00185179500841 | upstream,downstream | MIR371B MIR373;MIR371A MIR372 | |||||||||||||||
chr19 | 54291738 | 54291763 | GAAAAAAAAAAAAAAAAACAGCAGCT | GAAAAAAAAAAAAAAACAGCAGCT | N | 0.00185179500841 | upstream,downstream | MIR371B MIR373;MIR371A MIR372 | |||||||||||||||
chr19 | 54465584 | 54465586 | GCG | ACA | N | 0.0122885853052 | upstream | CACNG8 | HMC-1 | cerebral cortex | |||||||||||||
chr19 | 54724387 | 54724389 | AGC | GGG | D | 0.835022509098 | intronic | LILRB3 | leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 | TIME | appendix | ||||||||||||
chr19 | 54724407 | 54724407 | C | T | rs1132608 | N | 0.00994156207889 | 0.354433 | intronic | LILRB3 | leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 | TIME | appendix | ||||||||||
chr19 | 54784928 | 54784928 | T | C | rs13347079 | N | 0.000195486922166 | 0.194089 | 5-UTR | LILRB2 | NM_001080978 NM_001278404 NM_005874 | U-937 | appendix | ||||||||||
chr19 | 54843575 | 54843575 | C | G | rs1205320 | N | 0.486632794142 | 0.520567 | downstream | LILRA4 | HMC-1 | lymph node | |||||||||||
chr19 | 54843589 | 54843589 | T | C | rs1205321 | N | 7.94429870439e-05 | 0.561302 | downstream | LILRA4 | HMC-1 | lymph node | |||||||||||
chr19 | 54870191 | 54870191 | T | A | rs111949142 | N | 0.0307178981602 | 0.0986422 | intronic | LAIR1 | leukocyte-associated Ig-like receptor 1 | Karpas-707 | bone marrow | ||||||||||
chr19 | 55141954 | 55141954 | G | A | rs3760860 | N | 5.86013371162e-09 | 0.461062 | 5-UTR | LILRB1 | NM_001081638 NM_001081639 | HDLM-2 | appendix | ||||||||||
chr19 | 55143156 | 55143157 | TG | CA | N | 0.000467305304483 | nonframeshift substitution | LILRB1 | NM_001278399 NM_001278398 NM_006669 NM_001081639 NM_001081638 NM_001081637 | 4,4,5,4,4,4 | 276,276,276,276,276,276 | HDLM-2 | appendix | ||||||||||
chr19 | 55175009 | 55175009 | G | T | rs11540761 | N | 0.000295253674267 | 0.195487 | N | D | D | N | nonsynonymous SNV | LILRB4 | NM_001278426 NM_001278427 NM_001278430 NM_001278428 | 2,2,2,2 | 54,54,54,54 | 18,18,18,18 | R=>S,R=>S,R=>S,R=>S | leukocyte immunoglobulin-like receptor, subfamily B, member 4 | Karpas-707 | lymph node | |
chr19 | 55207898 | 55207900 | TTT | ATG | N | 0.000589940173086 | intergenic | ||||||||||||||||
chr19 | 55208106 | 55208106 | A | G | rs4806808 | N | 9.86967023664e-08 | 0.759185 | intergenic | ||||||||||||||
chr19 | 55208353 | 55208353 | A | G | rs1972789 | N | 4.09156353243e-09 | 0.855831 | intergenic | ||||||||||||||
chr19 | 55208366 | 55208366 | T | A | rs4806809 | N | 3.6275682902e-08 | 0.758986 | intergenic | ||||||||||||||
chr19 | 55972950 | 55972950 | T | G | rs2303088 | N | 0.299564570189 | 0.695288 | 5-UTR | ISOC2 | NM_001136201 NM_001136202 NM_024710 | HEK-293 | kidney | ||||||||||
chr19 | 56282938 | 56282938 | G | A | rs1820105 | N | 2.37500644289e-05 | 0.49401 | upstream | RFPL4AL1 | U-2-OS | spleen | |||||||||||
chr19 | 56573610 | 56573610 | T | C | rs3097884 | N | 5.48676259982e-09 | 0.768371 | downstream | NLRP5 | NLR family, pyrin domain containing 5 | U-2-OS | testis | ||||||||||
chr19 | 56989191 | 56989191 | G | A | rs10425729 | N | 0.254759669304 | 0.48762 | upstream | ZNF667 ZNF667-AS1 | |||||||||||||
chr19 | 57050065 | 57050065 | C | G | rs73629994 | N | 0.416636377573 | 0.779153 | upstream | ZFP28 | zinc finger protein 28 | RH-30 | ovary | ||||||||||
chr19 | 571397 | 571397 | G | A | rs28989772 | N | 0.0620078146458 | 0.0636981 | 5-UTR | BSG | NM_198590 NM_198591 | BLOOD GROUP--OK | basigin | U-87-MG | heart muscle | ||||||||
chr19 | 57734632 | 57734632 | C | T | rs2058082 | N | 6.4736659624e-06 | 0.619808 | downstream | ZNF264 | HEK-293 | testis | |||||||||||
chr19 | 5778517 | 5778517 | A | T | rs2305925 | N | 4.68255620945e-06 | 0.294129 | D | N | N | N | nonsynonymous SNV | CATSPERD | NM_152784 | 22 | 2227 | 743 | T=>S | HEL | testis | ||
chr19 | 5783905 | 5783905 | G | A | rs3745640 | N | 3.13932133622e-07 | 0.307508 | D | D | P | N | nonsynonymous SNV | PRR22 | NM_001134316 | 3 | 353 | 118 | P=>L | HMC-1 | testis | ||
chr19 | 5785113 | 5785113 | C | T | rs3826798 | N | 1.46140689594e-06 | 0.311502 | upstream,downstream | PRR22;DUS3L | |||||||||||||
chr19 | 5791167 | 5791167 | T | C | rs2290776 | N | 0.486632794142 | 0.454073 | 5-UTR | DUS3L | NM_001161619 NM_020175 | dihydrouridine synthase 3-like (S. cerevisiae) | U-266/70 | bone marrow | |||||||||
chr19 | 588934 | 588934 | T | C | rs3814894 | N | 1.44368686961e-06 | 0.521166 | upstream | HCN2 | hyperpolarization-activated, cyclic nucleotide-gated K+ 2 | U-87-MG | cerebral cortex | ||||||||||
chr19 | 589315 | 589315 | A | C | rs72972190 | N | 2.13930011483e-08 | 0.0690895 | upstream | HCN2 | hyperpolarization-activated, cyclic nucleotide-gated K+ 2 | U-87-MG | cerebral cortex | ||||||||||
chr19 | 5904069 | 5904069 | G | A | rs6510862 | N | 0.00662776920944 | 0.722244 | upstream | NDUFA11 VMAC | |||||||||||||
chr19 | 6156483 | 6156483 | T | C | rs4807840 | N | 4.78194692732e-07 | 0.712061 | N | N | N | nonsynonymous SNV | ACSBG2 | NM_001289178 NM_030924 NM_001289179 NM_001289177 | 5,5,5,5 | 428,428,428,428 | 143,143,143,143 | V=>A,V=>A,V=>A,V=>A | acyl-CoA synthetase bubblegum family member 2 | HEL | testis | ||
chr19 | 616509 | 616509 | G | A | rs55810748 | N | 2.11372480408e-06 | 0.202676 | 3-UTR | HCN2 | NM_001194 | hyperpolarization-activated, cyclic nucleotide-gated K+ 2 | U-87-MG | cerebral cortex | |||||||||
chr19 | 617195 | 617195 | C | T | rs11670098 | N | 0.130528792739 | 0.228634 | downstream | HCN2 POLRMT | |||||||||||||
chr19 | 639161 | 639161 | C | T | rs111509883 | N | 0.486632794142 | 0.0451278 | upstream | FGF22 | fibroblast growth factor 22 | AN3-CA | skin | ||||||||||
chr19 | 648256 | 648256 | G | A | D | 0.99004560709 | stopgain | RNF126 | NM_194460 | 9 | 808 | 270 | R=>X | U-266/70 | testis | ||||||||
chr19 | 6702598 | 6702598 | G | A | rs406514 | N | 3.15716242767e-05 | 0.814896 | intronic | C3 | complement component 3 | Hep-G2 | liver | ||||||||||
chr19 | 6737481 | 6737481 | T | C | rs340138 | N | 0.187082201242 | 0.886581 | N | N | N | N | nonsynonymous SNV | GPR108 | NM_001080452 | 1 | 107 | 36 | Q=>R | G protein-coupled receptor 108 | Karpas-707 | thyroid gland | |
chr19 | 6821625 | 6821625 | C | T | rs28617395 | N | 7.56910230848e-05 | 0.0928514 | intronic | VAV1 | vav 1 oncogene | MOLT-4 | lymph node | ||||||||||
chr19 | 6903920 | 6903920 | A | G | rs443658 | N | 4.15774229623e-05 | 0.432708 | N | D | D | D | nonsynonymous SNV | ADGRE1 | NM_001256254 NM_001256253 NM_001974 NM_001256252 | 4,7,7,6 | 338,761,761,605 | 113,254,254,202 | N=>S,N=>S,N=>S,N=>S | ||||
chr19 | 7116963 | 7116963 | T | C | rs1051690 | N | 6.05537575638e-09 | 0.877396 | 3-UTR | INSR | NM_000208 NM_001079817 | insulin receptor | Karpas-707 | ovary | |||||||||
chr19 | 7660763 | 7660787 | AGCGGCGGCGGCGGCGGCGGCGGCA | AGCGGCGGCGGCGGCGGCGGCA | D | 0.888342738152 | upstream | CAMSAP3 | calmodulin regulated spectrin-associated protein family, member 3 | CACO-2 | skin | ||||||||||||
chr19 | 7733793 | 7733793 | C | G | rs1862513 | N | 0.0248578917235 | upstream | RETN | NB-4 | bone marrow | ||||||||||||
chr19 | 7743879 | 7743879 | C | T | rs4804766 | N | 0.00117584166583 | 0.279153 | intronic | MCEMP1 | |||||||||||||
chr19 | 7747293 | 7747293 | T | G | rs6952 | N | 1.32970310318e-08 | 0.358027 | N | N | N | N | nonsynonymous SNV | TRAPPC5 | NM_001042462 NM_001042461 NM_174894 | 2,2,2 | 154,154,154 | 52,52,52 | S=>A,S=>A,S=>A | PC-3 | testis | ||
chr19 | 7755285 | 7755285 | A | G | rs28364072 | D | 0.943088591099 | 0.397764 | intronic | FCER2 | HDLM-2 | spleen | |||||||||||
chr19 | 7761494 | 7761498 | CTTAG | CAG | D | 0.977330565453 | intronic | FCER2 | HDLM-2 | spleen | |||||||||||||
chr19 | 7763248 | 7763248 | G | A | rs2228137 | N | 2.7353306109e-07 | 0.203674 | D | D | P | N | nonsynonymous SNV | FCER2 | NM_001207019 NM_002002 NM_001220500 | 3,4,4 | 181,184,184 | 61,62,62 | R=>W,R=>W,R=>W | HDLM-2 | spleen | ||
chr19 | 8129608 | 8129608 | T | C | rs4804255 | N | 3.51722860614e-06 | 0.63738 | downstream | FBN3 | REH | lung | |||||||||||
chr19 | 867872 | 867872 | G | A | rs34828577 | N | 7.9095940464e-07 | 0.40016 | downstream | MED16 | mediator complex subunit 16 | U-266/70 | ovary | ||||||||||
chr19 | 9020153 | 9020154 | CA | CG | N | 5.45662696823e-05 | nonframeshift substitution | MUC16 | NM_024690 | 21 | 37341 | mucin 16 | HeLa | uterus | |||||||||
chr19 | 9020153 | 9020154 | CA | TG | N | 5.45662696823e-05 | nonframeshift substitution | MUC16 | NM_024690 | 21 | 37341 | mucin 16 | HeLa | uterus | |||||||||
chr19 | 920642 | 920642 | T | A | rs350132 | N | 5.14143778219e-07 | 0.783946 | N | N | N | N | nonsynonymous SNV | KISS1R | NM_032551 | 5 | 1091 | 364 | L=>H | KISS1 receptor | RPMI-8226 | cerebral cortex | |
chr19 | 9236015 | 9236015 | T | C | rs34125139 | N | 1.14528756967e-05 | 0.423722 | downstream | OR7G3 | A-431 | adipose tissue | |||||||||||
chr2 | 106209385 | 106209385 | A | C | rs1126240 | N | 1.03295161313e-09 | 0.595248 | downstream | LOC285000 | |||||||||||||
chr2 | 106810994 | 106810994 | G | A | rs11887738 | N | 0.486632794142 | 0.974241 | upstream | UXS1 | UDP-glucuronate decarboxylase 1 | BEWO | kidney | ||||||||||
chr2 | 106920429 | 106920429 | G | T | rs7580166 | N | 1.55911845923e-06 | 0.805312 | intergenic | ||||||||||||||
chr2 | 10924524 | 10924524 | T | C | rs1198873 | N | 3.36794014899e-09 | 0.557308 | 3-UTR | ATP6V1C2 | NM_001039362 NM_144583 | ATPase, H+ transporting, lysosomal V1 subunit C2 | BEWO | skin | |||||||||
chr2 | 109745176 | 109745176 | G | A | rs11681142 | N | 7.99008739705e-06 | 0.953474 | ncRNA | SH3RF3-AS1 | |||||||||||||
chr2 | 113823626 | 113823626 | T | C | rs12475161 | N | 7.53958602218e-06 | 0.715256 | intergenic | ||||||||||||||
chr2 | 118949128 | 118949128 | T | A | rs3849333 | N | 1.59474922157e-08 | 0.901158 | intergenic | ||||||||||||||
chr2 | 11905636 | 11905656 | GTTTTTTTTTGTCTGTTTTCC | GTTTTTTTTGTCTGTTTTCC | D | 0.912479281425 | intronic | LPIN1 | lipin 1 | U-266/70 | testis | ||||||||||||
chr2 | 119928277 | 119928277 | A | G | rs4322838 | N | 1.2053047449e-09 | 0.998003 | intergenic | ||||||||||||||
chr2 | 120418594 | 120418594 | C | A | rs1879711 | N | 4.33491209151e-07 | 0.739417 | intergenic | ||||||||||||||
chr2 | 120436681 | 120436681 | A | G | rs2272054 | N | 0.103353172541 | 0.871805 | upstream | TMEM177 | transmembrane protein 177 | NTERA-2 | duodenum | ||||||||||
chr2 | 122042750 | 122042750 | A | T | rs13415738 | N | 0.033097345382 | 0.477636 | 5-UTR | TFCP2L1 | NM_014553 | transcription factor CP2-like 1 | RT-4 | salivary gland | |||||||||
chr2 | 123831418 | 123831418 | T | C | rs11694990 | N | 8.26117830002e-05 | 0.310104 | intergenic | ||||||||||||||
chr2 | 124439681 | 124439681 | A | G | rs2670606 | N | 2.94835786008e-07 | 0.849441 | intergenic | ||||||||||||||
chr2 | 130254891 | 130254891 | A | G | rs2084937 | N | 1.80134769323e-08 | 0.987819 | intergenic | ||||||||||||||
chr2 | 132151997 | 132151997 | T | C | rs1976952 | N | 9.71754343482e-05 | 0.733027 | intergenic | ||||||||||||||
chr2 | 132533457 | 132533459 | AGA | AGGG | N | 0.00214449572377 | intergenic | ||||||||||||||||
chr2 | 133015576 | 133015576 | T | C | rs10175641 | N | 0.486632794142 | 0.170727 | upstream | ANKRD30BL MIR663B | |||||||||||||
chr2 | 133015810 | 133015811 | AG | GG | N | 0.305469334126 | upstream | ANKRD30BL | REH | testis | |||||||||||||
chr2 | 133015885 | 133015886 | AG | AA | N | 0.00428532762453 | upstream | ANKRD30BL | REH | testis | |||||||||||||
chr2 | 133015885 | 133015886 | AG | GA | N | 0.00428532762453 | upstream | ANKRD30BL | REH | testis | |||||||||||||
chr2 | 133016581 | 133016585 | CAGTG | GAGTA | D | 1.0 | intergenic | ||||||||||||||||
chr2 | 133016581 | 133016585 | CAGTG | GAGTG | D | 1.0 | intergenic | ||||||||||||||||
chr2 | 136956640 | 136956657 | GAAAAAAAAAAAAGATGC | GAAAAAAAAAAAAAGATGC | D | 0.619050204754 | intergenic | ||||||||||||||||
chr2 | 137401769 | 137401769 | T | C | rs1446103 | N | 1.17940726341e-06 | 0.572085 | intergenic | ||||||||||||||
chr2 | 139259222 | 139259222 | A | G | rs62161711 | N | 0.486632794142 | 0.74381 | upstream | SPOPL | speckle-type POZ protein-like | U-266/70 | lymph node | ||||||||||
chr2 | 139658953 | 139658953 | A | C | rs12473352 | N | 5.2033897191e-09 | 0.783946 | intergenic | ||||||||||||||
chr2 | 144193151 | 144193169 | CTTTTTTTTTTTTTTGCAG | CTTTTTTTTTTTTTTTTGCAG | N | 0.0693475902081 | intronic | ARHGAP15 | Rho GTPase activating protein 15 | THP-1 | lymph node | ||||||||||||
chr2 | 148252587 | 148252587 | T | C | rs1898708 | N | 7.77390685158e-09 | 0.966254 | intergenic | ||||||||||||||
chr2 | 148252636 | 148252636 | C | A | rs2382042 | N | 7.24804083418e-09 | 0.966254 | intergenic | ||||||||||||||
chr2 | 149582879 | 149582879 | C | T | rs58237624 | N | 0.000132583736558 | 0.144569 | intergenic | ||||||||||||||
chr2 | 149853960 | 149853960 | A | G | rs6738277 | N | 3.14630277387e-09 | 0.631589 | intronic | KIF5C | kinesin family member 5C | SCLC-21H | cerebral cortex | ||||||||||
chr2 | 151900390 | 151900435 | TAAAAACAAAAACAAAAACAAAAACAAAAACAAAAACAAACCCTTT | TAAAAACAAAAACAAAAACAAAAACAAACCCTTT | N | 0.47182276845 | intergenic | ||||||||||||||||
chr2 | 153191655 | 153191655 | T | G | rs10203197 | N | 0.0522010996938 | 0.941494 | upstream | FMNL2 | formin-like 2 | BEWO | cerebral cortex | ||||||||||
chr2 | 153191866 | 153191866 | A | G | rs10200831 | N | 0.0183826927096 | 0.988419 | 5-UTR | FMNL2 | NM_052905 | formin-like 2 | BEWO | cerebral cortex | |||||||||
chr2 | 158485075 | 158485075 | G | T | rs114245489 | N | 0.025222774595 | 0.0207668 | intronic | ACVR1C | activin A receptor, type IC | HDLM-2 | adipose tissue | ||||||||||
chr2 | 159651734 | 159651734 | A | G | rs925781 | N | 5.43594474989e-11 | 0.681909 | upstream | DAPL1 | death associated protein-like 1 | U-87-MG | esophagus | ||||||||||
chr2 | 159663599 | 159663599 | T | C | rs9869 | N | 2.10973567505e-08 | 0.590455 | D | P | P | N | nonsynonymous SNV | DAPL1 | NM_001017920 | 3 | 179 | 60 | L=>P | death associated protein-like 1 | U-87-MG | esophagus | |
chr2 | 159672252 | 159672252 | G | A | rs61740878 | N | 1.34048314067e-05 | 0.102436 | synonymous SNV | DAPL1 | NM_001017920 | 4 | 243,81 | 81 | A=>A | death associated protein-like 1 | U-87-MG | esophagus | |||||
chr2 | 159672442 | 159672442 | G | A | rs10016 | N | 4.81382667061e-09 | 0.445487 | 3-UTR | DAPL1 | NM_001017920 | death associated protein-like 1 | U-87-MG | esophagus | |||||||||
chr2 | 160289911 | 160289911 | A | G | rs10187471 | N | 0.0074945599772 | 0.144768 | intronic | BAZ2B | bromodomain adjacent to zinc finger domain, 2B | SCLC-21H | ovary | ||||||||||
chr2 | 160743040 | 160743040 | T | A | rs2271381 | N | 1.44163686855e-06 | 0.235423 | N | N | N | N | nonsynonymous SNV | LY75 LY75-CD302 | NM_002349 NM_001198759 NM_001198760 | 5,5,5 | 804,804,804 | 268,268,268 | E=>D,E=>D,E=>D | ||||
chr2 | 162280748 | 162280748 | G | A | rs890076 | N | 1.65592410016e-17 | 0.758586 | 3-UTR | TBR1 | NM_006593 | T-box brain gene 1 | SCLC-21H | cerebral cortex | |||||||||
chr2 | 162359983 | 162359983 | T | C | rs12620974 | N | 8.53280900798e-12 | 0.952476 | ncRNA | AHCTF1P1 | |||||||||||||
chr2 | 162903515 | 162903515 | A | T | rs200443496 | D | 0.928100466728 | 0.000399361 | N | N | N | D | nonsynonymous SNV | DPP4 | NM_001935 | 4 | 195 | 65 | D=>E | dipeptidylpeptidase 4 | PC-3 | small intestine | |
chr2 | 164466039 | 164466054 | ATTTTTTTTTTCTAAA | ATTTTTTTTTCTAAA | D | 0.992351949215 | 3-UTR | FIGN | NM_001321825 NM_018086 | fidgetin | U-138-MG | ovary | |||||||||||
chr2 | 164592924 | 164592924 | T | C | rs13417911 | N | 0.00581231992692 | 0.945288 | upstream | FIGN | fidgetin | U-138-MG | ovary | ||||||||||
chr2 | 165477903 | 165477903 | G | C | rs62173895 | N | 0.00339287146926 | 0.442492 | 5-UTR | GRB14 | NM_004490 | growth factor receptor bound protein 14 | TIME | liver | |||||||||
chr2 | 166535615 | 166535615 | C | G | rs61747278 | N | 2.97153292195e-07 | 0.0131789 | N | N | N | N | nonsynonymous SNV | CSRNP3 | NM_001172173 NM_024969 | 7,5 | 1110,1110 | 370,370 | D=>E,D=>E | cysteine-serine-rich nuclear protein 3 | SCLC-21H | cerebral cortex | |
chr2 | 166895913 | 166895937 | CTTTTTTTTTTTTTTTTTACCAATC | CTTTTTTTTTTTTTTTTACCAATC | N | 0.437596797943 | frameshift substitution | SCN1A | NM_001165964 NM_001202435 NM_006920 NM_001165963 | 14,16,14,14 | 2501,2585,2552,2585 | sodium channel, voltage-gated, type I, alpha | Hep-G2 | cerebral cortex | |||||||||
chr2 | 170003432 | 170003432 | T | G | rs4667591 | N | 2.41021803049e-06 | 0.555911 | D | D | D | D | nonsynonymous SNV | LRP2 | NM_004525 | 69 | 12628 | 4210 | I=>L | low density lipoprotein receptor-related protein 2 | CACO-2 | kidney | |
chr2 | 170403030 | 170403030 | T | C | rs2253680 | N | 0.000175066204974 | 0.542931 | N | N | N | N | exonic | FASTKD1 | FAST kinase domains 1 | NB-4 | heart muscle | ||||||
chr2 | 172398311 | 172398311 | T | C | rs7586144 | N | 9.09489844547e-12 | 0.804313 | intronic | CYBRD1 | cytochrome b reductase 1 | RH-30 | thyroid gland | ||||||||||
chr2 | 172411273 | 172411273 | G | A | rs10455 | N | 3.60809515598e-08 | 0.683107 | N | N | N | N | nonsynonymous SNV | CYBRD1 | NM_024843 NM_001256909 | 4,4 | 797,623 | 266,208 | S=>N,S=>N | cytochrome b reductase 1 | RH-30 | thyroid gland | |
chr2 | 172946315 | 172946315 | T | G | rs788160 | N | 1.86774640892e-12 | 0.854832 | 3-UTR | METAP1D | NM_001322278 NM_001322279 NM_199227 | methionyl aminopeptidase type 1D (mitochondrial) | K-562 | ovary | |||||||||
chr2 | 173850463 | 173850463 | A | C | rs35253091 | N | 0.190134763718 | 0.115615 | intronic | RAPGEF4 | Rap guanine nucleotide exchange factor (GEF) 4 | U-266/84 | cerebral cortex | ||||||||||
chr2 | 177502520 | 177502520 | G | C | rs2969358 | N | 0.00131295330357 | 0.927516 | ncRNA | LINC01117 | |||||||||||||
chr2 | 177714253 | 177714253 | G | A | rs12616782 | N | 9.20660099268e-08 | 0.485623 | intergenic | ||||||||||||||
chr2 | 178417945 | 178417945 | G | T | rs12988366 | N | 0.201225295663 | 0.890575 | upstream | TTC30B | tetratricopeptide repeat domain 30B | SCLC-21H | testis | ||||||||||
chr2 | 178491217 | 178491217 | G | A | rs6723031 | N | 1.31082649281e-20 | 0.889377 | 3-UTR | PDE11A | NM_001077196 NM_016953 NM_001077197 | phosphodiesterase 11A | Hep-G2 | prostate | |||||||||
chr2 | 183580780 | 183580780 | G | A | N | 0.164492920041 | 5-UTR | DNAJC10 | NM_001271581 NM_018981 | DnaJ (Hsp40) homolog, subfamily C, member 10 | RPMI-8226 | uterus | |||||||||||
chr2 | 190445848 | 190445848 | G | A | rs12693542 | N | 0.000708682637196 | 0.683107 | upstream | SLC40A1 | solute carrier family 40 (iron-regulated transporter), member 1 | HEL | ovary | ||||||||||
chr2 | 190445936 | 190445936 | C | T | rs13015236 | N | 1.85311673704e-05 | 0.511182 | upstream | SLC40A1 | solute carrier family 40 (iron-regulated transporter), member 1 | HEL | ovary | ||||||||||
chr2 | 20101222 | 20101227 | GAAATC | GAATC | N | 0.486632794142 | intronic | TTC32 | tetratricopeptide repeat domain 32 | Karpas-707 | bone marrow | ||||||||||||
chr2 | 201347707 | 201347707 | G | C | rs6751614 | N | 1.87814226393e-08 | 0.707468 | downstream | SPATS2L | spermatogenesis associated, serine-rich 2-like | RH-30 | gallbladder | ||||||||||
chr2 | 202122995 | 202122995 | A | G | rs3769823 | N | 0.0432243011892 | 0.646366 | N | N | N | N | nonsynonymous SNV | CASP8 | NM_001080125 | 1 | 41 | 14 | K=>R | CASPASE 8 DEFICIENCY | caspase 8 | U-266/70 | bone marrow |
chr2 | 202151439 | 202151439 | G | C | rs3185378 | N | 0.0261166822165 | 0.554313 | 3-UTR | CASP8 | NM_001080124 NM_001228 NM_033355 NM_001080125 NM_033356 | CASPASE 8 DEFICIENCY | caspase 8 | U-266/70 | bone marrow | ||||||||
chr2 | 202215492 | 202215492 | C | G | rs13014235 | N | 6.09429116594e-05 | 0.709065 | N | N | N | N | nonsynonymous SNV | ALS2CR12 | NM_139163 NM_001289993 NM_001127391 | 3,3,3 | 127,127,127 | 43,43,43 | V=>L,V=>L,V=>L | amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (human) | SK-MEL-30 | testis | |
chr2 | 203690387 | 203690387 | G | A | rs1344959 | N | 5.73921141722e-08 | 0.86881 | intronic | ICA1L | islet cell autoantigen 1-like | BEWO | cerebral cortex | ||||||||||
chr2 | 204216255 | 204216278 | GTTTTTTTTTTTTTTTCCTTTAGA | GTTTTTTTTTTTTTTTTCCTTTAGA | N | 0.142577528954 | intronic | ABI2 | abl-interactor 2 | AN3-CA | cerebral cortex | ||||||||||||
chr2 | 20837292 | 20837292 | G | A | rs56238706 | N | 1.13281612357e-05 | 0.209465 | intronic | HS1BP3 | HCLS1 binding protein 3 | SK-MEL-30 | adrenal gland | ||||||||||
chr2 | 208477852 | 208477852 | G | A | rs2551949 | N | 9.27130461292e-09 | 0.904153 | N | N | N | N | nonsynonymous SNV | METTL21A | NM_001127395 NM_145280 | 4,4 | 575,575 | 192,192 | T=>I,T=>I | methyltransferase like 21A | NB-4 | lymph node | |
chr2 | 208546034 | 208546034 | T | C | rs10191721 | N | 4.14576099145e-12 | 0.462061 | intergenic | ||||||||||||||
chr2 | 208551727 | 208551727 | G | A | rs10181368 | N | 1.43239378692e-10 | 0.984425 | intergenic | ||||||||||||||
chr2 | 208994697 | 208994697 | C | T | rs2242071 | N | 2.58925686447e-10 | 0.661941 | ncRNA | LOC100507443 | |||||||||||||
chr2 | 209029192 | 209029192 | A | C | rs2123291 | N | 1.25666616668e-07 | 0.653355 | upstream,downstream | CRYGA;C2orf80 | |||||||||||||
chr2 | 209225308 | 209225308 | G | C | rs6435454 | N | 6.0317013606e-08 | 0.913738 | intronic | PTH2R | parathyroid hormone 2 receptor | HEL | kidney | ||||||||||
chr2 | 211319824 | 211319824 | T | C | rs2287432 | N | 0.00037673820043 | 0.71226 | ncRNA | LANCL1-AS1 | |||||||||||||
chr2 | 211320041 | 211320063 | GAAAAAAAAAAAAGGAAACAATG | GAAAAAAAAAAAAAAGGAAACAATG | D | 0.975179612637 | ncRNA | LANCL1-AS1 | |||||||||||||||
chr2 | 211341156 | 211341156 | C | G | rs2287418 | N | 0.000420019088779 | 0.48103 | intronic | LANCL1 | LanC (bacterial lantibiotic synthetase component C)-like 1 | SK-BR-3 | cerebral cortex | ||||||||||
chr2 | 21346604 | 21346604 | G | T | rs312960 | N | 2.11555113705e-11 | 0.972244 | upstream | TDRD15 | |||||||||||||
chr2 | 216256615 | 216256615 | T | C | rs6709607 | N | 0.00552588328719 | 0.689297 | intronic | FN1 | fibronectin 1 | Hep-G2 | liver | ||||||||||
chr2 | 216878008 | 216878008 | C | G | rs1864253 | N | 0.0168958380818 | 0.677117 | N | N | N | N | nonsynonymous SNV | MREG | NM_018000 | 1 | 43 | 15 | G=>R | melanoregulin | MCF-7 | esophagus | |
chr2 | 219139573 | 219139573 | G | A | rs6734242 | N | 2.01123562249e-08 | 0.958866 | 3-UTR | TMBIM1 | NM_001321427 NM_001321428 NM_001321429 NM_001321430 NM_001321432 NM_001321433 NM_001321435 NM_001321436 NM_001321438 NM_022152 | RT-4 | esophagus | ||||||||||
chr2 | 219350358 | 219350391 | CAAAAAAAAAAAAAAAAAAAAAAAATTACCTAGG | CAAAAAAAAAAAAAAAAAAAAATTACCTAGG | D | 0.815276145935 | frameshift substitution | USP37 | NM_020935 | 16 | 1666 | ubiquitin specific peptidase 37 | HEL | testis | |||||||||
chr2 | 220455241 | 220455241 | A | G | rs2385535 | N | 1.08436417179e-07 | 0.843051 | intergenic | ||||||||||||||
chr2 | 220466344 | 220466363 | GTTTTTTTTTTTTTTTCAGC | GTTTTTTTTTTTTTTTTCAGC | D | 0.999998092651 | frameshift substitution | STK11IP | NM_052902 | 4 | 268 | serine/threonine kinase 11 interacting protein | HMC-1 | testis | |||||||||
chr2 | 223535927 | 223535927 | T | G | rs4312477 | N | 2.65417384071e-07 | 0.783546 | upstream | MOGAT1 | HEK-293 | gallbladder | |||||||||||
chr2 | 232387698 | 232387698 | G | A | rs72991337 | N | 0.486632794142 | 0.348043 | downstream | NMUR1 | neuromedin U receptor 1 | U-266/70 | adipose tissue | ||||||||||
chr2 | 232387706 | 232387706 | A | G | rs72991338 | N | 0.486632794142 | 0.354433 | downstream | NMUR1 | neuromedin U receptor 1 | U-266/70 | adipose tissue | ||||||||||
chr2 | 233924009 | 233924009 | A | G | rs7558755 | N | 1.09781939095e-09 | 0.741414 | upstream | INPP5D | inositol polyphosphate-5-phosphatase D | HMC-1 | lymph node | ||||||||||
chr2 | 234683892 | 234683892 | C | T | rs4663972 | N | 1.51821166749e-09 | 0.770168 | upstream | MROH2A | RT-4 | testis | |||||||||||
chr2 | 240725072 | 240725072 | T | C | rs66660625 | N | 1.55673642439e-05 | 0.290136 | intergenic | ||||||||||||||
chr2 | 241525316 | 241525316 | C | T | rs2953172 | N | 0.00329304998741 | 0.793331 | ncRNA | CAPN10-AS1 | |||||||||||||
chr2 | 242295521 | 242295521 | A | C | rs2286279 | N | 0.486632794142 | 0.863618 | upstream | FARP2 | FERM, RhoGEF and pleckstrin domain protein 2 | SK-MEL-30 | testis | ||||||||||
chr2 | 25044754 | 25044755 | AC | GT | N | 0.0781027153134 | 3-UTR | CENPO | NM_001199803 NM_001322101 NM_024322 | centromere protein O | RH-30 | testis | |||||||||||
chr2 | 25945982 | 25945982 | C | A | rs7599007 | N | 1.63400886777e-06 | 0.591454 | intergenic | ||||||||||||||
chr2 | 26952501 | 26952501 | T | C | rs1663003 | N | 5.02631769539e-10 | 0.962859 | 3-UTR | KCNK3 | NM_002246 | potassium channel, subfamily K, member 3 | SCLC-21H | adrenal gland | |||||||||
chr2 | 33788060 | 33788070 | CTTTTTTCTCA | CTTTTCTCA | N | 0.028658868745 | 3-UTR | RASGRP3 | NM_170672 NM_001139488 NM_015376 | RAS, guanyl releasing protein 3 | U-266/70 | lymph node | |||||||||||
chr2 | 3483612 | 3483612 | C | T | rs78864276 | N | 0.00726454192773 | 0.0423323 | downstream | TRAPPC12 | trafficking protein particle complex 12 | MCF-7 | testis | ||||||||||
chr2 | 37292890 | 37292890 | T | G | rs11903252 | N | 0.0178645271808 | 0.281949 | intronic | HEATR5B | HEAT repeat containing 5B | Karpas-707 | lymph node | ||||||||||
chr2 | 37456032 | 37456032 | C | T | rs2098386 | N | 3.83594760933e-06 | 0.939896 | N | N | N | N | nonsynonymous SNV | CEBPZ | NM_005760 | 2 | 304 | 102 | V=>I | CCAAT/enhancer binding protein zeta | NTERA-2 | testis | |
chr2 | 37543371 | 37543371 | A | G | rs6544066 | N | 0.000939112331253 | 0.441494 | intronic | PRKD3 | protein kinase D3 | U-266/84 | lymph node | ||||||||||
chr2 | 37965516 | 37965516 | G | T | rs72880762 | N | 0.000147183280205 | intergenic | |||||||||||||||
chr2 | 37965532 | 37965532 | G | T | rs77721061 | N | 0.00010818130977 | intergenic | |||||||||||||||
chr2 | 37965555 | 37965555 | G | C | rs78459989 | N | 0.000143574667163 | intergenic | |||||||||||||||
chr2 | 37965599 | 37965599 | G | A | rs73929712 | N | 8.19076885819e-05 | intergenic | |||||||||||||||
chr2 | 37965636 | 37965636 | G | A | rs72799788 | N | 0.000131433349452 | intergenic | |||||||||||||||
chr2 | 37965647 | 37965647 | C | T | rs77903747 | N | 0.000125791309983 | intergenic | |||||||||||||||
chr2 | 38604351 | 38604351 | A | G | rs3731847 | N | 0.486632794142 | 0.49361 | N | N | N | N | nonsynonymous SNV | ATL2 | NM_022374 NM_001135673 | 1,1 | 52,52 | 18,18 | W=>R,W=>R | atlastin GTPase 2 | HaCaT | thyroid gland | |
chr2 | 39402978 | 39402980 | ACA | AGCA | N | 0.0226913746446 | intergenic | ||||||||||||||||
chr2 | 43793725 | 43793725 | G | A | rs1158411 | N | 0.486632794142 | 0.353235 | D | N | N | N | intronic | THADA | thyroid adenoma associated | MCF-7 | lymph node | ||||||
chr2 | 45236803 | 45236803 | T | G | rs2959228 | N | 0.00033769471338 | 0.701877 | upstream | SIX2 | sine oculis-related homeobox 2 | SCLC-21H | salivary gland | ||||||||||
chr2 | 46844219 | 46844221 | CGC | CGGC | N | 0.486632794142 | 5-UTR | PIGF | NM_002643 NM_173074 | phosphatidylinositol glycan anchor biosynthesis, class F | EFO-21 | adrenal gland | |||||||||||
chr2 | 47142950 | 47142977 | GCCCCCCCCCCCCCCCCGACCTGCCCTG | GCCCCCCCGACCTGCCCTG | N | 0.486632794142 | 5-UTR | MCFD2 | NM_001171506 NM_001171509 NM_139279 | multiple coagulation factor deficiency 2 | U-87-MG | adrenal gland | |||||||||||
chr2 | 55662790 | 55662790 | A | G | rs10865286 | N | 1.18251955428e-05 | 0.417732 | intergenic | ||||||||||||||
chr2 | 62073918 | 62073918 | C | T | rs58256183 | N | 3.40997539752e-05 | 0.500599 | intronic | FAM161A | family with sequence similarity 161, member A | NTERA-2 | testis | ||||||||||
chr2 | 62689306 | 62689306 | T | C | rs6737708 | N | 4.77906936247e-10 | 0.995407 | intergenic | ||||||||||||||
chr2 | 62788692 | 62788692 | C | T | rs4672533 | N | 0.00342602375895 | 0.415335 | intergenic | ||||||||||||||
chr2 | 70529614 | 70529614 | T | C | rs2952468 | N | 2.05561789812e-09 | 0.442093 | upstream | FAM136A | CACO-2 | duodenum | |||||||||||
chr2 | 71056740 | 71056740 | G | C | rs1548892 | N | 1.85551089089e-05 | 0.70647 | downstream | CD207 | CD207 antigen | AN3-CA | skin | ||||||||||
chr2 | 71115000 | 71115000 | T | G | rs7567290 | N | 0.00554325478151 | 0.71226 | upstream | LINC01143 | |||||||||||||
chr2 | 72356195 | 72356195 | A | G | rs887844 | N | 2.04419217664e-10 | 0.544728 | downstream | CYP26B1 | cytochrome P450, family 26, subfamily b, polypeptide 1 | U-2-OS | skin | ||||||||||
chr2 | 74350475 | 74350475 | C | G | rs3108161 | N | 1.25770557133e-05 | 0.302716 | intergenic | ||||||||||||||
chr2 | 75939031 | 75939031 | C | G | rs143143402 | N | 0.00368001568131 | 0.174321 | upstream | GCFC2 | RPMI-8226 | thyroid gland | |||||||||||
chr2 | 85108252 | 85108254 | GCG | GCCG | D | 0.998229324818 | 5-UTR | TRABD2A | NM_001080824 NM_001277053 NM_001307978 | BEWO | colon | ||||||||||||
chr2 | 8887426 | 8887426 | A | G | rs12622593 | N | 0.225164964795 | 0.145168 | intronic | KIDINS220 | kinase D-interacting substrate 220 | SH-SY5Y | cerebral cortex | ||||||||||
chr2 | 91635413 | 91635413 | A | C | rs2647830 | N | 8.95688037628e-13 | 0.840056 | intergenic | ||||||||||||||
chr2 | 91635422 | 91635422 | A | G | rs2647831 | N | 9.80768504633e-07 | intergenic | |||||||||||||||
chr2 | 91636382 | 91636382 | G | A | rs1839724 | N | 0.03690572083 | intergenic | |||||||||||||||
chr2 | 91777145 | 91777147 | CGC | CGG | N | 5.61913475394e-05 | intergenic | ||||||||||||||||
chr2 | 91777145 | 91777147 | CGC | TGG | N | 5.61913475394e-05 | intergenic | ||||||||||||||||
chr2 | 96987742 | 96987742 | G | A | rs62153902 | N | 0.030559213832 | 0.300719 | intergenic | ||||||||||||||
chr20 | 137933 | 137933 | C | G | rs1434790 | N | 3.00406743925e-09 | 0.926917 | upstream | DEFB127 | BEWO | kidney | |||||||||||
chr20 | 1645571 | 1645576 | TGGGAT | TGGGGAT | N | 0.0071761822328 | intergenic | ||||||||||||||||
chr20 | 16652322 | 16652322 | C | A | rs6111242 | N | 9.91082970359e-07 | 0.415535 | intergenic | ||||||||||||||
chr20 | 16729654 | 16729656 | AAG | AAGATGAG | N | 0.000234850362176 | intronic | OTOR | otoraplin | SK-BR-3 | gallbladder | ||||||||||||
chr20 | 16731951 | 16731951 | G | A | rs34747330 | N | 1.31552933453e-05 | 0.0201677 | 3-UTR | OTOR | NM_020157 | otoraplin | SK-BR-3 | gallbladder | |||||||||
chr20 | 17591210 | 17591217 | TGGGGTGA | TAGGGGTGA | N | 4.65375087515e-05 | intergenic | ||||||||||||||||
chr20 | 17593984 | 17593984 | G | A | rs1885082 | N | 3.11235148764e-10 | 0.64377 | downstream | RRBP1 | ribosome binding protein 1 | SK-BR-3 | pancreas | ||||||||||
chr20 | 17594030 | 17594030 | G | A | rs6136149 | N | 1.24795988654e-07 | 0.630591 | downstream | RRBP1 | ribosome binding protein 1 | SK-BR-3 | pancreas | ||||||||||
chr20 | 17705664 | 17705664 | G | A | rs2296905 | N | 1.50322302943e-05 | 0.244808 | intronic | BANF2 | CACO-2 | testis | |||||||||||
chr20 | 18446024 | 18446024 | C | A | rs6111974 | N | 1.25280848806e-05 | 0.638578 | intronic | DZANK1 | double zinc ribbon and ankyrin repeat domains 1 | U-266/84 | testis | ||||||||||
chr20 | 19701943 | 19701943 | A | C | rs2277866 | N | 2.43958797608e-10 | 0.882788 | 3-UTR | SLC24A3 | NM_020689 | solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 | HMC-1 | uterus | |||||||||
chr20 | 21406018 | 21406018 | G | T | rs804371 | N | 2.15539821511e-05 | 0.0734824 | intergenic | ||||||||||||||
chr20 | 23902884 | 23902884 | A | G | rs1622461 | N | 1.49205146016e-08 | 0.947284 | intergenic | ||||||||||||||
chr20 | 23961469 | 23961469 | A | G | rs6036595 | N | 4.7154702365e-10 | 0.973243 | intergenic | ||||||||||||||
chr20 | 25278464 | 25278470 | AGTGGGG | AGTGGGGTGGGG | D | 0.994507849216 | 3-UTR | PYGB | NM_002862 | brain glycogen phosphorylase | PC-3 | heart muscle | |||||||||||
chr20 | 25457049 | 25457056 | GCTCCCAC | GC | N | 0.02799327299 | exonic | NINL | ninein-like | Hep-G2 | ovary | ||||||||||||
chr20 | 25743673 | 25743673 | A | G | rs2258302 | N | 0.00052097189473 | downstream | FAM182B | SCLC-21H | testis | ||||||||||||
chr20 | 2673644 | 2673657 | GGGCGCTGGCGCTG | GGGCGCTG | N | 0.486632794142 | 5-UTR | EBF4 | NM_001110514 | SH-SY5Y | prostate | ||||||||||||
chr20 | 29596958 | 29596958 | A | T | rs62198952 | N | 7.83520226832e-06 | intergenic | |||||||||||||||
chr20 | 29596985 | 29596985 | G | C | rs62198953 | N | 7.80075788498e-06 | intergenic | |||||||||||||||
chr20 | 29652566 | 29652569 | CACA | CATG | N | 1.86216057045e-05 | intergenic | ||||||||||||||||
chr20 | 29652566 | 29652569 | CACA | TACG | N | 1.86216057045e-05 | intergenic | ||||||||||||||||
chr20 | 29653139 | 29653142 | TATC | CATA | N | 0.0566310994327 | intergenic | ||||||||||||||||
chr20 | 29653368 | 29653368 | A | C | rs62206799 | N | 0.0189222600311 | intergenic | |||||||||||||||
chr20 | 29653447 | 29653447 | G | T | rs6057425 | N | 6.01125236699e-07 | intergenic | |||||||||||||||
chr20 | 3063161 | 3063161 | T | C | rs1887854 | N | 2.18590639633e-06 | 0.923323 | downstream | AVP | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL | arginine vasopressin | HEK-293 | kidney | |||||||||
chr20 | 31407661 | 31407661 | A | T | rs404543 | N | 0.486632794142 | 0.810304 | upstream | MAPRE1 | microtubule-associated protein, RP/EB family, member 1 | HEL | bone marrow | ||||||||||
chr20 | 31446645 | 31446645 | A | G | rs853853 | N | 9.25131189433e-08 | 0.809704 | intergenic | ||||||||||||||
chr20 | 34330259 | 34330259 | T | C | rs2425124 | N | 0.486632794142 | 1 | upstream | RBM39 | RNA binding motif protein 39 | HEL | bone marrow | ||||||||||
chr20 | 3450811 | 3450811 | G | A | rs1552323 | N | 3.5912853491e-06 | 0.803115 | upstream | ATRN | attractin | HaCaT | duodenum | ||||||||||
chr20 | 36247345 | 36247345 | A | G | rs2144505 | N | 1.41750746252e-07 | 0.802716 | downstream | LINC00489 | |||||||||||||
chr20 | 36247400 | 36247400 | A | C | rs2144506 | N | 2.38598499891e-06 | 0.564497 | downstream | LINC00489 | |||||||||||||
chr20 | 37229583 | 37229583 | C | T | rs6128504 | N | 2.46350995159e-10 | 0.908746 | upstream | ARHGAP40 | Rho GTPase activating protein 40 | SK-BR-3 | skin | ||||||||||
chr20 | 37547374 | 37547374 | G | A | rs4812336 | N | 5.51370249013e-06 | 0.332468 | 3-UTR | PPP1R16B | NM_001172735 NM_015568 | protein phosphatase 1, regulatory (inhibitor) subunit 16B | U-266/70 | lymph node | |||||||||
chr20 | 37555116 | 37555116 | G | C | rs3752290 | N | 2.46191248152e-05 | 0.401358 | N | N | N | N | nonsynonymous SNV | FAM83D | NM_030919 | 1 | 31 | 11 | V=>L | family with sequence similarity 83, member D | SiHa | esophagus | |
chr20 | 3758426 | 3758426 | C | G | rs910654 | N | 0.259644180536 | 0.296126 | 3-UTR | SPEF1 | NM_015417 | sperm flagellar 1 | A-549 | testis | |||||||||
chr20 | 4050164 | 4050164 | C | T | rs1538070 | N | 2.66173916241e-10 | 0.934904 | intergenic | ||||||||||||||
chr20 | 41818989 | 41818989 | G | A | rs6065588 | N | 8.67415201355e-06 | 0.758187 | upstream | PTPRT | protein tyrosine phosphatase, receptor type, T | SCLC-21H | cerebral cortex | ||||||||||
chr20 | 45523307 | 45523308 | CG | GC | N | 0.0390579923987 | 5-UTR | EYA2 | NM_005244 NM_172110 | eyes absent 2 homolog (Drosophila) | U-266/84 | esophagus | |||||||||||
chr20 | 55743266 | 55743266 | A | G | rs6070005 | N | 4.83209555268e-13 | 0.889776 | downstream | BMP7 | bone morphogenetic protein 7 | MCF-7 | thyroid gland | ||||||||||
chr20 | 56940153 | 56940153 | A | C | rs6026220 | N | 1.15117359201e-06 | 0.590855 | 3-UTR | RAB22A | NM_020673 | RAB22A, member RAS oncogene family | SK-BR-3 | cerebral cortex | |||||||||
chr20 | 57090419 | 57090419 | G | C | rs910863 | N | 0.00116270338185 | 0.963858 | upstream | APCDD1L APCDD1L-AS1 | |||||||||||||
chr20 | 57475191 | 57475191 | A | G | rs13831 | N | 0.00227849651128 | 0.797324 | 3-UTR | GNAS | NM_001309883 NM_001309842 | PSEUDOPSEUDOHYPOPARATHYROIDISM | GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus | MCF-7 | thyroid gland | ||||||||
chr20 | 5910766 | 5910766 | A | C | rs410462 | N | 1.46123241507e-07 | 0.564497 | intergenic | ||||||||||||||
chr20 | 592038 | 592038 | C | T | rs282165 | N | 3.7827931898e-09 | 0.852436 | intergenic | ||||||||||||||
chr20 | 60292863 | 60292863 | C | T | rs8121433 | N | 0.000112499721581 | 0.29992 | intronic | CDH4 | cadherin 4 | U-251-MG | spleen | ||||||||||
chr20 | 61273717 | 61273717 | G | C | rs6122141 | N | 0.0155187714845 | 0.515575 | upstream | SLCO4A1 | solute carrier organic anion transporter family, member 4a1 | PC-3 | esophagus | ||||||||||
chr20 | 61406995 | 61406995 | A | G | rs856951 | N | 9.25893814951e-08 | 0.986022 | ncRNA | LINC00659 | |||||||||||||
chr20 | 61407076 | 61407076 | T | C | rs856952 | N | 0.00289550842717 | 0.358227 | ncRNA | LINC00659 | |||||||||||||
chr20 | 61460338 | 61460338 | C | T | rs6062700 | N | 1.20357196431e-10 | 0.629393 | intronic | COL9A3 | collagen, type IX, alpha 3 | BEWO | thyroid gland | ||||||||||
chr20 | 61812932 | 61812932 | T | C | rs2064612 | N | 6.53440039855e-08 | 0.679712 | intergenic | ||||||||||||||
chr20 | 6193716 | 6193716 | T | G | rs2257221 | N | 8.7800494414e-14 | 0.98742 | intergenic | ||||||||||||||
chr20 | 61965096 | 61965099 | CAGA | CA | N | 0.102632343769 | intergenic | ||||||||||||||||
chr20 | 62130469 | 62130469 | C | T | rs140890899 | N | 0.0468259081244 | 0.108427 | 5-UTR | EEF1A2 | NM_001958 | eukaryotic translation elongation factor 1 alpha 2 | MCF-7 | heart muscle | |||||||||
chr20 | 62133073 | 62133073 | G | A | rs880445 | N | 1.10158956609e-11 | 0.513578 | intergenic | ||||||||||||||
chr20 | 62272583 | 62272583 | G | T | rs3865523 | N | 1.09631027954e-05 | 0.669928 | 3-UTR | STMN3 | NM_001276310 NM_015894 | SCLC-21H | cerebral cortex | ||||||||||
chr20 | 62309554 | 62309554 | C | T | rs41309367 | N | 1.55486293352e-06 | 0.611621 | ncRNA | RTEL1-TNFRSF6B | |||||||||||||
chr20 | 62321655 | 62321655 | G | A | rs2236506 | N | 5.19864588568e-05 | 0.696086 | synonymous SNV | RTEL1 | NM_001283010 NM_001283009 NM_016434 NM_032957 | 25,26,26,26 | 1605,535,2274,758,2274,758,2346,782 | 535,758,758,782 | A=>A,A=>A,A=>A,A=>A | regulator of telomere elongation helicase 1 | HeLa | testis | |||||
chr20 | 62602062 | 62602062 | T | G | rs79903344 | N | 0.000240043184021 | 0.281949 | upstream | ZNF512B | zinc finger protein 512B | MOLT-4 | skin | ||||||||||
chr20 | 8000386 | 8000386 | A | G | rs2205783 | N | 0.486632794142 | 0.740016 | 5-UTR | TMX4 | NM_021156 | U-266/70 | testis | ||||||||||
chr21 | 10905865 | 10905865 | G | A | rs28454907 | N | 2.67148607236e-05 | downstream | TPTE | transmembrane phosphatase with tensin homology | |||||||||||||
chr21 | 10991620 | 10991620 | T | C | rs469689 | N | 3.73761688266e-09 | 0.850839 | upstream | TPTE | transmembrane phosphatase with tensin homology | ||||||||||||
chr21 | 11169243 | 11169243 | A | C | rs209066 | N | 0.000114213398774 | intergenic | |||||||||||||||
chr21 | 14410455 | 14410455 | G | A | rs66558909 | N | 0.00580931128934 | upstream | ANKRD30BP2 | ||||||||||||||
chr21 | 15358406 | 15358406 | A | G | rs1297059 | N | 2.14735146331e-10 | 0.960264 | intergenic | ||||||||||||||
chr21 | 20229961 | 20229961 | T | G | rs4239823 | N | 1.82716188846e-08 | 0.846845 | intergenic | ||||||||||||||
chr21 | 26890795 | 26890795 | T | C | rs6516676 | N | 8.99879942697e-13 | 0.82508 | intergenic | ||||||||||||||
chr21 | 27839192 | 27839192 | G | A | rs219638 | N | 0.000325340894051 | 0.185503 | ncRNA | CYYR1-AS1 | |||||||||||||
chr21 | 27839197 | 27839197 | A | G | rs75654436 | N | 0.00223690853454 | 0.0587061 | ncRNA | CYYR1-AS1 | |||||||||||||
chr21 | 28207520 | 28207522 | GCA | GCCA | N | 0.337173938751 | intergenic | ||||||||||||||||
chr21 | 30247342 | 30247342 | A | C | rs2103488 | N | 6.1340625912e-09 | 0.870607 | intergenic | ||||||||||||||
chr21 | 31863847 | 31863847 | G | C | rs2251071 | N | 6.41942676793e-08 | 0.554313 | 3-UTR | KRTAP19-3 | NM_181609 | A-431 | adipose tissue | ||||||||||
chr21 | 31933337 | 31933337 | A | G | rs373438605 | N | 0.000122288111015 | 0.00259585 | downstream | KRTAP19-7 | A-431 | adipose tissue | |||||||||||
chr21 | 37528856 | 37528857 | CC | TA | N | 0.00875811651349 | upstream | CBR3-AS1 DOPEY2 | |||||||||||||||
chr21 | 45138118 | 45138118 | T | G | rs1107204 | N | 1.7771253219e-11 | 0.639177 | upstream | PDXK | pyridoxal (pyridoxine, vitamin B6) kinase | CACO-2 | testis | ||||||||||
chr21 | 45587031 | 45587031 | A | G | rs8131733 | N | 7.21962081229e-08 | 0.891374 | intergenic | ||||||||||||||
chr21 | 45620265 | 45620265 | G | T | rs55893906 | N | 0.000686165236402 | 0.214856 | intergenic | ||||||||||||||
chr21 | 45769839 | 45769849 | TAAAAGGAGAC | TAAAGGAGAC | N | 0.481169074774 | intergenic | ||||||||||||||||
chr21 | 45882123 | 45882123 | C | T | rs2236676 | N | 4.07159632232e-06 | 0.614417 | intergenic | ||||||||||||||
chr21 | 46397346 | 46397348 | TGT | TGTTGTCTGCACCCCGT | N | 0.144074007869 | downstream | FAM207A | HEL | spleen | |||||||||||||
chr21 | 47742894 | 47742898 | AGGAC | AGGGAC | N | 0.00597746809945 | 5-UTR | C21orf58 | NM_001286476 NM_058180 | REH | bone marrow | ||||||||||||
chr22 | 17008139 | 17008139 | T | C | rs71326254 | N | 1.0395661775e-05 | 0.641174 | intergenic | ||||||||||||||
chr22 | 18027817 | 18027837 | CTTTTTTTTTTTTTTTTGCAG | CTTTTTTTTTTTTTTTGCAG | N | 0.0057473545894 | intronic | CECR2 | cat eye syndrome chromosome region, candidate 2 | NTERA-2 | testis | ||||||||||||
chr22 | 18882058 | 18882058 | T | G | rs73378826 | D | 1.0 | upstream | LOC100996432 | ||||||||||||||
chr22 | 20657835 | 20657837 | GGC | GCGC | D | 1.0 | ncRNA | LOC101927859 | |||||||||||||||
chr22 | 20795454 | 20795454 | T | C | rs62219032 | N | 0.000327660498442 | 0.135783 | downstream | KLHL22 | kelch-like 22 (Drosophila) | AN3-CA | ovary | ||||||||||
chr22 | 23853983 | 23853983 | C | T | rs6003759 | N | 4.28012072007e-07 | 0.674121 | intergenic | ||||||||||||||
chr22 | 23854125 | 23854125 | G | C | rs915580 | N | 7.28138189743e-08 | 0.701677 | intergenic | ||||||||||||||
chr22 | 24248712 | 24248712 | T | C | rs5760101 | N | 1.48946170953e-07 | 0.71885 | intergenic | ||||||||||||||
chr22 | 25679231 | 25679231 | G | A | rs62233674 | N | 4.94552976452e-15 | 0.840256 | intergenic | ||||||||||||||
chr22 | 25746647 | 25746647 | C | T | rs133185 | N | 0.000211570833926 | 0.397364 | downstream | LRP5L | U-2-OS | bone marrow | |||||||||||
chr22 | 29784786 | 29784786 | G | C | rs5752906 | N | 0.010520326905 | 0.489018 | upstream | AP1B1 | adaptor protein complex AP-1, beta 1 subunit | RT-4 | lymph node | ||||||||||
chr22 | 30723272 | 30723272 | C | T | rs4820833 | N | 0.0239333175123 | 0.999601 | upstream | TBC1D10A | TBC1 domain family, member 10a | MOLT-4 | esophagus | ||||||||||
chr22 | 32438941 | 32438941 | T | C | rs2899172 | N | 8.1491791093e-08 | 1 | upstream | SLC5A1 | solute carrier family 5 (sodium/glucose cotransporter), member 1 | CACO-2 | duodenum | ||||||||||
chr22 | 35795125 | 35795125 | G | C | rs5999821 | N | 9.85482451199e-09 | 0.508986 | upstream | MCM5 | minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae) | REH | bone marrow | ||||||||||
chr22 | 37576356 | 37576361 | TCCTCG | TCCCTCG | N | 0.0220800321549 | 3-UTR | C1QTNF6 | NM_031910 NM_182486 | C1q and tumor necrosis factor related protein 6 | MCF-7 | uterus | |||||||||||
chr22 | 37824313 | 37824313 | G | C | rs133714 | N | 5.61461047255e-06 | 0.491613 | upstream | ELFN2 | leucine rich repeat and fibronectin type III, extracellular 2 | U-2-OS | cerebral cortex | ||||||||||
chr22 | 37964408 | 37964430 | CCAGCGCCTGCTGCAAACCCCTC | CC | N | 0.0117741031572 | nonframeshift substitution | CDC42EP1 | NM_152243 | 3 | 757 | U-138-MG | stomach | ||||||||||
chr22 | 38043444 | 38043444 | C | A | rs3213528 | N | 1.36865228342e-05 | 0.355631 | ncRNA | LOC101927051 | |||||||||||||
chr22 | 38092892 | 38092892 | G | A | rs1004890 | N | 0.167474642396 | 0.170927 | upstream | TRIOBP | TRIO and F-actin binding protein | TIME | spleen | ||||||||||
chr22 | 38120041 | 38120041 | G | A | rs4821700 | N | 0.486632794142 | N | N | N | N | nonsynonymous SNV | TRIOBP | NM_001039141 | 7 | 1478 | 493 | S=>N | TRIO and F-actin binding protein | TIME | spleen | ||
chr22 | 38130459 | 38130459 | G | T | rs8140207 | N | 2.89615542215e-07 | 0.263978 | N | N | N | N | nonsynonymous SNV | TRIOBP | NM_001039141 | 9 | 4116 | 1372 | E=>D | TRIO and F-actin binding protein | TIME | spleen | |
chr22 | 38712782 | 38712782 | G | C | rs135766 | N | 0.0228732638061 | 0.995407 | intronic | CSNK1E LOC400927-CSNK1E | |||||||||||||
chr22 | 38819296 | 38819296 | T | C | rs138404 | N | 1.70973113445e-09 | 1 | intergenic | ||||||||||||||
chr22 | 39496322 | 39496331 | TAACAACAAG | TAACAAG | N | 0.0236556269228 | nonframeshift substitution | APOBEC3H | NM_001166002 NM_001166004 NM_181773 NM_001166003 | 2,2,2,2 | 39,39,39,39 | Karpas-707 | lymph node | ||||||||||
chr22 | 39497452 | 39497454 | AAG | GAC | N | 0.0784068256617 | nonframeshift substitution | APOBEC3H | NM_001166002 NM_001166004 NM_181773 NM_001166003 | 3,3,3,3 | 361,361,361,361 | Karpas-707 | lymph node | ||||||||||
chr22 | 39499763 | 39499763 | T | C | rs139316 | N | 1.84741233422e-09 | 0.50619 | 3-UTR | APOBEC3H | NM_001166002 NM_001166003 NM_181773 | Karpas-707 | lymph node | ||||||||||
chr22 | 39636899 | 39636920 | GTCTCTCTCTCTCTCTCTCTCA | GTCTCTCTCTCTCTCTCTCTCTCTCA | D | 0.979315936565 | 5-UTR | PDGFB | NM_033016 | platelet derived growth factor, B polypeptide | EFO-21 | placenta | |||||||||||
chr22 | 39644273 | 39644273 | G | A | rs130651 | N | 8.23158075036e-09 | 0.790735 | intergenic | ||||||||||||||
chr22 | 39834102 | 39834102 | C | G | rs73167342 | N | 5.81411086387e-07 | 0.725639 | downstream | LOC100506472 TAB1 | |||||||||||||
chr22 | 40161181 | 40161219 | TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGGC | TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGGC | N | 8.7708918727e-05 | intronic | ENTHD1 | ENTH domain containing 1 | SK-MEL-30 | testis | ||||||||||||
chr22 | 40417820 | 40417820 | A | G | rs5995794 | N | 6.30136401014e-06 | 0.271166 | D | N | N | N | nonsynonymous SNV | FAM83F | NM_138435 | 4 | 1306 | 436 | R=>G | SCLC-21H | testis | ||
chr22 | 40436973 | 40436973 | G | C | rs11704416 | N | 0.000109819797217 | 0.201278 | intergenic | ||||||||||||||
chr22 | 41215420 | 41215435 | GGGGGGGGGGCGGCTA | GGTGGGGGGGGGCGGCTA | N | 0.486632794142 | upstream | SLC25A17 | solute carrier family 25 (mitochondrial carrier, peroxisomal membrane protein), member 17 | K-562 | ovary | ||||||||||||
chr22 | 41470522 | 41470522 | G | A | rs8136923 | N | 8.27876192488e-06 | 0.250799 | upstream | SNORD140 | |||||||||||||
chr22 | 41574969 | 41574976 | TGTAGTAT | TGTAT | D | 0.999915480614 | 3-UTR | EP300 | NM_001429 | COLORECTAL CANCER, SOMATIC | E1A binding protein p300 | HL-60 | bone marrow | ||||||||||
chr22 | 41637119 | 41637119 | G | T | rs4820434 | N | 0.0878771468997 | 0.219249 | upstream | CHADL | BEWO | cerebral cortex | |||||||||||
chr22 | 41923644 | 41923644 | G | A | rs17367849 | N | 0.00193340517581 | 0.193091 | 3-UTR | POLR3H | NM_001018050 NM_001018052 NM_001282885 NM_138338 NM_001282884 | polymerase (RNA) III (DNA directed) polypeptide H | HEK-293 | cerebral cortex | |||||||||
chr22 | 41985956 | 41985958 | GGC | TGA | N | 0.486632794142 | upstream | PMM1 | phosphomannomutase 1 | U-87-MG | ovary | ||||||||||||
chr22 | 42177453 | 42177453 | G | C | rs4822050 | N | 0.000481797556859 | 0.380192 | intronic | MEI1 | meiosis defective 1 | U-266/70 | appendix | ||||||||||
chr22 | 42195410 | 42195410 | T | C | rs139561 | N | 9.91520646494e-05 | 0.159145 | 3-UTR | MEI1 | NM_152513 | meiosis defective 1 | U-266/70 | appendix | |||||||||
chr22 | 42317581 | 42317606 | CAAAAAAAAAAACAAAACAAAAAGGT | CAAAAAAAAAAAACAAAACAAAAAGGT | N | 0.0382126159966 | intergenic | ||||||||||||||||
chr22 | 42523943 | 42523943 | A | G | rs16947 | N | 4.38415348469e-08 | 0.640775 | nonsynonymous SNV | CYP2D6 | NM_000106 NM_001025161 | 6,5 | 886,733 | 296,245 | C=>R,C=>R | DEBRISOQUINE, POOR METABOLISM OF | U-266/70 | liver | |||||
chr22 | 42537404 | 42537404 | G | C | rs2854741 | N | 1.64172689665e-07 | 0.827676 | ncRNA | CYP2D7 | |||||||||||||
chr22 | 42538029 | 42538029 | A | G | rs1058167 | N | 2.87545617539e-06 | 0.553315 | ncRNA | CYP2D7 | |||||||||||||
chr22 | 42540551 | 42540551 | A | G | rs2743461 | N | 0.000193789004697 | 0.375599 | ncRNA | CYP2D7 | |||||||||||||
chr22 | 42680201 | 42680201 | T | C | rs76462269 | N | 0.0118177924305 | 0.107827 | upstream | TCF20 | transcription factor 20 | Daudi | thyroid gland | ||||||||||
chr22 | 43182073 | 43182077 | CAACG | CACG | N | 0.0109078660607 | intergenic | ||||||||||||||||
chr22 | 43562306 | 43562306 | A | G | rs138926 | N | 3.79426296604e-06 | 0.592252 | downstream | TTLL12 | tubulin tyrosine ligase-like family, member 12 | K-562 | esophagus | ||||||||||
chr22 | 44760501 | 44760501 | C | T | rs5765777 | N | 8.43639868793e-14 | 0.108826 | intergenic | ||||||||||||||
chr22 | 44761797 | 44761797 | T | A | rs5765809 | N | 2.19771868615e-06 | 0.370807 | intergenic | ||||||||||||||
chr22 | 45258495 | 45258495 | A | G | rs8777 | N | 1.88765980624e-07 | 0.559505 | 3-UTR | ARHGAP8 | NM_001017526 NM_001198726 NM_181335 NM_181334 | Rho GTPase activating protein 8 | BEWO | salivary gland | |||||||||
chr22 | 45560184 | 45560184 | A | G | rs564607 | N | 0.00705494079739 | 1 | intronic | NUP50 | nucleoporin 50 | HL-60 | bone marrow | ||||||||||
chr22 | 45680241 | 45680241 | A | G | rs2742627 | N | 1.48129597477e-08 | 1 | upstream | UPK3A | uroplakin 3A | RT-4 | prostate | ||||||||||
chr22 | 45680387 | 45680387 | G | A | rs2742629 | N | 0.0401754491031 | 0.40615 | upstream | UPK3A | uroplakin 3A | RT-4 | prostate | ||||||||||
chr22 | 45680824 | 45680824 | A | G | rs2255432 | N | 1.66050704138e-05 | 0.777955 | upstream | UPK3A | uroplakin 3A | RT-4 | prostate | ||||||||||
chr22 | 46368130 | 46368130 | T | C | rs62226057 | N | 8.54360635572e-08 | 0.778554 | intronic | WNT7B | wingless-related MMTV integration site 7B | A-549 | skin | ||||||||||
chr22 | 46449891 | 46449891 | G | A | rs12159707 | N | 0.313342124224 | 0.215455 | D | D | N | nonsynonymous SNV | PRR34 | NM_018280 | 1 | 83 | 28 | P=>L | |||||
chr22 | 50050847 | 50050847 | G | A | rs9616333 | N | 0.192809551954 | 0.442292 | 5-UTR | C22orf34 | NM_001289922 | MOLT-4 | spleen | ||||||||||
chr22 | 50051786 | 50051786 | T | C | rs5770623 | N | 1.09152530764e-11 | 1 | upstream | C22orf34 | MOLT-4 | spleen | |||||||||||
chr22 | 50221994 | 50221994 | C | G | rs6009885 | N | 0.0009906248888 | upstream | BRD1 | bromodomain containing 1 | REH | testis | |||||||||||
chr22 | 50432604 | 50432604 | C | A | rs137841 | N | 2.47974003287e-06 | 0.23722 | downstream | IL17REL | SK-BR-3 | stomach | |||||||||||
chr22 | 50451687 | 50451687 | T | C | rs137873 | N | 6.12132998867e-06 | 0.604832 | upstream | IL17REL | SK-BR-3 | stomach | |||||||||||
chr22 | 50451771 | 50451771 | C | T | rs713669 | N | 6.10924053035e-06 | 0.593051 | upstream | IL17REL | SK-BR-3 | stomach | |||||||||||
chr22 | 50468933 | 50468933 | G | T | rs79298 | N | 0.486632794142 | 0.339257 | N | N | N | N | intergenic | ||||||||||
chr22 | 50600619 | 50600619 | C | T | rs730341 | N | 4.52054564448e-06 | 0.466853 | downstream | MOV10L1 | Moloney leukemia virus 10-like 1 | TIME | testis | ||||||||||
chr22 | 50646859 | 50646882 | CAAAAAAAAAAAAAAAATAGCCAC | CAAAAAAAAAAAAAAATAGCCAC | D | 0.979821324348 | intronic | SELO | |||||||||||||||
chr22 | 50646936 | 50646936 | G | C | rs5771102 | N | 1.91916797121e-07 | 0.701877 | intronic | SELO | |||||||||||||
chr22 | 50678571 | 50678571 | T | C | rs5771109 | N | 2.18044715439e-05 | 0.384185 | intronic | TUBGCP6 | tubulin, gamma complex associated protein 6 | HeLa | spleen | ||||||||||
chr22 | 50747101 | 50747101 | T | C | rs62241218 | N | 0.163379892707 | 0.569289 | intergenic | ||||||||||||||
chr22 | 51183255 | 51183255 | A | G | rs5771002 | N | 6.7821798666e-07 | 0.725839 | N | N | N | D | nonsynonymous SNV | ACR | NM_001097 | 5 | 886 | 296 | M=>V | acrosin prepropeptide | NTERA-2 | testis | |
chr3 | 10868944 | 10868944 | A | G | rs11128528 | N | 6.50064757792e-05 | 0.489617 | 3-UTR | SLC6A11 | NM_001317406 | solute carrier family 6 (neurotransmitter transporter, GABA), member 11 | Hep-G2 | cerebral cortex | |||||||||
chr3 | 108754320 | 108754335 | TAAAAAAAAAAGCAGG | TAAAAAAAAAAAAGCAGG | N | 0.0295711159706 | intronic | MORC1 | microrchidia 1 | RPMI-8226 | testis | ||||||||||||
chr3 | 112253193 | 112253212 | CAAAAAAAAAAAAAATTGTT | CAAAAAAAAAAAAATTGTT | N | 0.486632794142 | intronic | ATG3 | autophagy related 3 | U-698 | testis | ||||||||||||
chr3 | 112280706 | 112280706 | C | G | rs2399431 | N | 0.486632794142 | 0.974441 | 5-UTR | ATG3 | NM_001278712 NM_022488 | autophagy related 3 | U-698 | testis | |||||||||
chr3 | 11313910 | 11313910 | G | A | rs2594971 | N | 0.216774374247 | 0.504992 | upstream | ATG7 | BEWO | lymph node | |||||||||||
chr3 | 11518755 | 11518755 | T | C | rs4684782 | N | 1.78885954938e-07 | 0.491214 | intronic | ATG7 | BEWO | lymph node | |||||||||||
chr3 | 11942797 | 11942797 | T | C | rs407006 | N | 9.79034240345e-08 | 0.326478 | intergenic | ||||||||||||||
chr3 | 121265043 | 121265043 | C | T | rs13065220 | N | 0.486632794142 | 0.744409 | upstream | POLQ | polymerase (DNA directed), theta | U-698 | bone marrow | ||||||||||
chr3 | 122130751 | 122130751 | T | C | rs11553085 | N | 0.0141487475485 | 0.503195 | 3-UTR | WDR5B | NM_019069 | WD repeat domain 5B | SK-MEL-30 | thyroid gland | |||||||||
chr3 | 122474284 | 122474309 | TAAAAAAAAAAAAAAAAGATACAAGT | TAAAAAAAAAAAAAAAAAGATAAAAGT | N | 0.000857625622302 | intronic | HSPBAP1 | Hspb associated protein 1 | SK-MEL-30 | spleen | ||||||||||||
chr3 | 128792751 | 128792751 | G | A | rs4927903 | N | 5.24371995478e-13 | 0.90016 | intergenic | ||||||||||||||
chr3 | 129045278 | 129045278 | T | C | rs6801264 | N | 5.12874098746e-09 | 0.857827 | intergenic | ||||||||||||||
chr3 | 129800155 | 129800155 | T | C | rs79340532 | N | 0.000141702766996 | upstream | ALG1L2 | ||||||||||||||
chr3 | 129800163 | 129800163 | C | G | rs79213870 | N | 0.000133009205456 | upstream | ALG1L2 | ||||||||||||||
chr3 | 133307491 | 133307491 | T | C | rs6792846 | N | 2.27956279559e-05 | 0.921925 | 3-UTR | CDV3 | NM_001134422 NM_001282762 NM_017548 NM_001134423 NM_001282763 NM_001282764 NM_001282765 | carnitine deficiency-associated gene expressed in ventricle 3 | U-698 | lymph node | |||||||||
chr3 | 134370556 | 134370556 | G | T | rs6439506 | N | 0.486632794142 | 0.896965 | upstream | KY | kyphoscoliosis peptidase | U-87-MG | skin | ||||||||||
chr3 | 13679688 | 13679688 | T | A | rs1061390 | N | 0.00020534201758 | 0.2498 | 3-UTR | FBLN2 | NM_001004019 NM_001998 NM_001165035 | fibulin 2 | HMC-1 | adipose tissue | |||||||||
chr3 | 138091701 | 138091701 | G | T | rs1199333 | N | 3.58105474163e-08 | 0.884185 | intronic | MRAS | muscle and microspikes RAS | EFO-21 | adipose tissue | ||||||||||
chr3 | 13921823 | 13921823 | C | T | rs34268746 | N | 2.610747174e-08 | 0.544129 | upstream | WNT7A | wingless-related MMTV integration site 7A | EFO-21 | cerebral cortex | ||||||||||
chr3 | 14526667 | 14526686 | CGTGTGTGTGTGTGTGTGTA | CGTGTGTGTGTGTGTGTGTGTGTA | D | 0.95810842514 | 3-UTR | SLC6A6 | NM_001134367 NM_003043 | solute carrier family 6 (neurotransmitter transporter, taurine), member 6 | WM-115 | ovary | |||||||||||
chr3 | 14531627 | 14531631 | GCCTG | CCCTC | N | 0.000332064722897 | 3-UTR | GRIP2 | NM_001080423 | glutamate receptor interacting protein 2 | |||||||||||||
chr3 | 151171439 | 151171439 | A | C | rs7619322 | N | 2.96118651022e-06 | 0.727835 | N | P | P | N | nonsynonymous SNV | IGSF10 | NM_178822 | 3 | 448 | 150 | Y=>D | immunoglobulin superfamily, member 10 | RPMI-8226 | gallbladder | |
chr3 | 151217309 | 151217309 | G | T | rs7615314 | N | 2.1449291232e-09 | 0.838059 | intergenic | ||||||||||||||
chr3 | 15563391 | 15563391 | A | T | rs4684250 | N | 2.17593656851e-13 | 1 | upstream | COLQ | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY | collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase | BEWO | heart muscle | |||||||||
chr3 | 158366900 | 158366900 | G | A | rs2303909 | N | 7.1193576332e-06 | 0.583267 | N | N | N | N | nonsynonymous SNV | GFM1 | NM_001308164 NM_001308166 NM_024996 | 5,5,5 | 643,643,643 | 215,215,215 | V=>I,V=>I,V=>I | G elongation factor, mitochondrial 1 | RPMI-8226 | kidney | |
chr3 | 158390395 | 158390395 | A | T | rs9841 | N | 0.486632794142 | 0.409145 | 5-UTR | LXN | NM_020169 | MCF-7 | ovary | ||||||||||
chr3 | 158409262 | 158409262 | C | T | rs1047355 | N | 3.77542505703e-06 | 0.409145 | 3-UTR | GFM1 | NM_001308164 NM_024996 | G elongation factor, mitochondrial 1 | RPMI-8226 | kidney | |||||||||
chr3 | 158422506 | 158422506 | G | A | rs4680457 | N | 6.02349746259e-06 | 0.583267 | 3-UTR | RARRES1 | NM_002888 | retinoic acid receptor responder (tazarotene induced) 1 | CAPAN-2 | appendix | |||||||||
chr3 | 158537443 | 158537443 | A | G | rs3765083 | N | 0.0160784684122 | 0.559305 | N | N | N | N | nonsynonymous SNV | MFSD1 | NM_022736 NM_001167903 NM_001289406 NM_001289407 | 8,7,7,8 | 805,688,367,439 | 269,230,123,147 | I=>V,I=>V,I=>V,I=>V | major facilitator superfamily domain containing 1 | HL-60 | esophagus | |
chr3 | 15901428 | 15901428 | A | C | rs9883697 | N | 0.0507250502706 | 1 | upstream | ANKRD28 | ankyrin repeat domain 28 | Karpas-707 | bone marrow | ||||||||||
chr3 | 15901446 | 15901446 | T | G | rs11717575 | N | 0.0742136090994 | 1 | upstream | ANKRD28 | ankyrin repeat domain 28 | Karpas-707 | bone marrow | ||||||||||
chr3 | 160955879 | 160955903 | GGGCTTTTTTTTTTTTTTTAAGATG | TGGCTTTTTTTTTTTTTAAGATG | D | 0.839239954948 | exonic | NMD3 | NMD3 homolog (S. cerevisiae) | MCF-7 | urinary bladder | ||||||||||||
chr3 | 161091089 | 161091089 | G | C | rs460508 | N | 0.000297317135846 | 0.792732 | upstream | SPTSSB | serine palmitoyltransferase, small subunit B | MCF-7 | stomach | ||||||||||
chr3 | 163720950 | 163720950 | A | G | rs9814800 | N | 6.87971422053e-08 | 0.616813 | intergenic | ||||||||||||||
chr3 | 163889384 | 163889384 | T | C | rs10936412 | N | 1.98009752239e-06 | 0.552716 | upstream | MIR1263 | |||||||||||||
chr3 | 16450872 | 16450872 | T | C | rs1546650 | N | 1.72283819211e-06 | 0.63099 | intronic | RFTN1 | raftlin lipid raft linker 1 | HDLM-2 | lymph node | ||||||||||
chr3 | 167000256 | 167000256 | G | C | rs12638625 | N | 0.000328706781147 | N | N | N | N | nonsynonymous SNV | ZBBX | NM_001199202 NM_001199201 NM_024687 | 19,20,19 | 1820,607,2024,675,1907,636 | 607,675,636 | A=>G,A=>G,A=>G | zinc finger, B-box domain containing | CAPAN-2 | testis | ||
chr3 | 168538993 | 168538993 | A | G | rs603638 | N | 1.65983518596e-10 | 0.853235 | ncRNA | EGFEM1P | |||||||||||||
chr3 | 168546914 | 168546914 | C | T | rs678690 | N | 1.11332285613e-08 | 0.521565 | ncRNA | EGFEM1P | |||||||||||||
chr3 | 16926491 | 16926491 | G | A | rs6442654 | N | 0.00209794519469 | 5-UTR | PLCL2 | NM_001144382 | phospholipase C-like 2 | Daudi | ovary | ||||||||||
chr3 | 16926521 | 16926523 | CTG | CG | N | 0.0994581654668 | 5-UTR | PLCL2 | NM_001144382 | phospholipase C-like 2 | Daudi | ovary | |||||||||||
chr3 | 16926524 | 16926526 | CTG | CG | N | 0.0868147090077 | 5-UTR | PLCL2 | NM_001144382 | phospholipase C-like 2 | Daudi | ovary | |||||||||||
chr3 | 16926549 | 16926549 | T | G | N | 0.0154966115952 | intronic | PLCL2(NM_001144382:exon2:c.13+1T>G) | |||||||||||||||
chr3 | 16926561 | 16926563 | CTG | CG | N | 0.0716609060764 | exonic | PLCL2 | phospholipase C-like 2 | Daudi | ovary | ||||||||||||
chr3 | 16926567 | 16926567 | T | C | rs373958057 | N | 1.04537343759e-06 | 1 | exonic | PLCL2 | phospholipase C-like 2 | Daudi | ovary | ||||||||||
chr3 | 16974610 | 16974610 | C | A | rs9880307 | N | 1.01050915191e-07 | 0.483826 | 5-UTR | PLCL2 | NM_015184 | phospholipase C-like 2 | Daudi | ovary | |||||||||
chr3 | 170078232 | 170078232 | C | T | rs3772173 | N | 0.000139434094308 | 0.690296 | N | N | N | N | nonsynonymous SNV | SKIL | NM_001248008 NM_001145097 NM_005414 NM_001145098 | 1,1,2,3 | 113,113,113,53 | 38,38,38,18 | A=>V,A=>V,A=>V,A=>V | SKI-like | EFO-21 | gallbladder | |
chr3 | 172118995 | 172118995 | C | A | rs1285080 | N | 3.71383421793e-08 | 0.899561 | downstream | FNDC3B | fibronectin type III domain containing 3B | EFO-21 | thyroid gland | ||||||||||
chr3 | 172549081 | 172549092 | GAAAAAAATCAG | GAAAAAATCAG | N | 0.00900333467871 | intergenic | ||||||||||||||||
chr3 | 1771749 | 1771749 | A | C | rs6442664 | N | 1.06031620817e-07 | 0.726438 | intergenic | ||||||||||||||
chr3 | 178984772 | 178984784 | TTCTCTCTCTTTG | TTCTCTCTCTCTTTG | N | 3.12624615617e-06 | 5-UTR | KCNMB3 | NM_001163677 NM_171828 | THP-1 | placenta | ||||||||||||
chr3 | 18055231 | 18055231 | A | C | rs61978649 | N | 2.86614204015e-06 | 0.457468 | nonsynonymous SNV | LOC339862 | NM_001257177 | 2 | 94 | 32 | S=>R | ||||||||
chr3 | 18486173 | 18486173 | G | A | rs62240975 | N | 0.0035871558357 | 0.335863 | 5-UTR | SATB1 | NM_001322871 NM_001322873 NM_001322876 NM_001322872 | special AT-rich sequence binding protein 1 | HDLM-2 | cerebral cortex | |||||||||
chr3 | 186304313 | 186304313 | G | T | rs7630822 | N | 2.43992616333e-07 | 0.595447 | downstream | DNAJB11 | DnaJ (Hsp40) homolog, subfamily B, member 11 | Karpas-707 | liver | ||||||||||
chr3 | 186427289 | 186427292 | TTGC | CTGA | N | 6.18863341515e-05 | intergenic | ||||||||||||||||
chr3 | 186427289 | 186427292 | TTGC | CTGC | N | 6.18863341515e-05 | intergenic | ||||||||||||||||
chr3 | 186545178 | 186545178 | A | G | rs266770 | N | 0.224976569414 | 0.891374 | intergenic | ||||||||||||||
chr3 | 191692859 | 191692859 | G | C | rs6444605 | N | 5.75777925338e-10 | 0.820487 | intergenic | ||||||||||||||
chr3 | 191692874 | 191692874 | T | C | rs6444606 | N | 4.07236189215e-10 | 0.820887 | intergenic | ||||||||||||||
chr3 | 195270725 | 195270725 | A | T | rs73196147 | N | 1.10170904009e-05 | 0.323482 | upstream | PPP1R2 | U-266/70 | bone marrow | |||||||||||
chr3 | 195370151 | 195370151 | T | C | rs144800463 | N | 0.0626029074192 | 0.839058 | intergenic | ||||||||||||||
chr3 | 195512103 | 195512107 | GGTGT | AGTGA | N | 0.000986047554761 | nonframeshift substitution | MUC4 | NM_018406 | 2 | 6344 | mucin 4 | A-431 | colon | |||||||||
chr3 | 195512103 | 195512107 | GGTGT | GGTGA | N | 0.000986047554761 | nonframeshift substitution | MUC4 | NM_018406 | 2 | 6344 | mucin 4 | A-431 | colon | |||||||||
chr3 | 195723058 | 195723058 | G | C | rs4927843 | N | 0.0273947417736 | intergenic | |||||||||||||||
chr3 | 20212189 | 20212189 | A | G | rs1052930 | N | 4.3971678565e-07 | 0.821486 | 3-UTR | SGO1 | NM_001012409 NM_001012411 NM_001012413 NM_001199251 NM_001199253 NM_001199255 | ||||||||||||
chr3 | 23847211 | 23847211 | C | A | rs3762767 | N | 0.0138430492952 | 0.322484 | ncRNA | UBE2E1-AS1 | |||||||||||||
chr3 | 23987842 | 23987842 | A | G | rs9862416 | N | 0.486632794142 | 0.425919 | intronic | NR1D2 | nuclear receptor subfamily 1, group D, member 2 | U-2-OS | thyroid gland | ||||||||||
chr3 | 25639973 | 25639984 | ATTTTTTTTCAA | ATTTTTTTTTCAA | D | 0.944231152534 | intronic | TOP2B | topoisomerase (DNA) II beta | REH | lymph node | ||||||||||||
chr3 | 25706277 | 25706277 | A | C | rs10433573 | N | 0.0623748339713 | 0.374002 | upstream,downstream | TOP2B;MIR4442 | |||||||||||||
chr3 | 29529913 | 29529930 | TTCTCTCTCTCTCTTTCA | TTCTCTCTCTCTTTCA | N | 0.0693407654762 | intronic | RBMS3 | RNA binding motif, single stranded interacting protein | WM-115 | thyroid gland | ||||||||||||
chr3 | 32207606 | 32207606 | A | G | rs6799559 | N | 3.06904294121e-05 | 0.478834 | 3-UTR | GPD1L | NM_015141 | BEWO | heart muscle | ||||||||||
chr3 | 32635184 | 32635184 | C | T | rs34426524 | N | 0.00368263898417 | 0.112021 | intergenic | ||||||||||||||
chr3 | 38350519 | 38350519 | G | A | rs818818 | N | 1.48880559436e-07 | 0.825479 | N | N | N | N | exonic | SLC22A14 | solute carrier family 22 (organic cation transporter), member 14 | AN3-CA | testis | ||||||
chr3 | 39851030 | 39851030 | G | C | rs71614181 | N | 8.67274284246e-05 | 0.703674 | intronic | MYRIP | myosin VIIA and Rab interacting protein | SH-SY5Y | cerebral cortex | ||||||||||
chr3 | 42750324 | 42750324 | G | A | rs2240861 | N | 1.25307487906e-05 | 0.199081 | 3-UTR | CCDC13 | NM_144719 | coiled-coil domain containing 13 | HMC-1 | testis | |||||||||
chr3 | 4403817 | 4403818 | TT | AC | N | 0.00266050640494 | 3-UTR | SUMF1 | NM_001164674 NM_001164675 NM_182760 | sulfatase modifying factor 1 | CAPAN-2 | kidney | |||||||||||
chr3 | 44283525 | 44283525 | A | G | rs9850927 | N | 8.29844387651e-11 | 0.844249 | 5-UTR | TOPAZ1 | NM_001145030 | A-431 | testis | ||||||||||
chr3 | 44284584 | 44284584 | G | A | rs9284879 | N | 3.04599097944e-06 | 0.563498 | D | N | N | N | nonsynonymous SNV | TOPAZ1 | NM_001145030 | 2 | 586 | 196 | V=>I | A-431 | testis | ||
chr3 | 44612050 | 44612050 | C | T | rs9873604 | N | 2.81477838371e-07 | 0.752196 | N | N | N | N | nonsynonymous SNV | ZKSCAN7 | NM_001288590 NM_001288592 NM_018651 | 6,5,6 | 1448,995,1448 | 483,332,483 | T=>I,T=>I,T=>I | SH-SY5Y | ovary | ||
chr3 | 44692564 | 44692564 | C | G | rs2272044 | N | 1.21762525396e-07 | 0.315296 | D | P | N | N | nonsynonymous SNV | ZNF35 | NM_003420 | 2 | 5 | 2 | T=>S | NTERA-2 | testis | ||
chr3 | 44775962 | 44775962 | A | G | rs4682752 | N | 1.18061814192e-06 | 0.695288 | D | N | N | N | nonsynonymous SNV | ZNF501 | NM_001258280 NM_145044 | 3,3 | 49,49 | 17,17 | M=>V,M=>V | NTERA-2 | testis | ||
chr3 | 44803108 | 44803123 | AAAGACAGAAGACAGG | AAAGACAGG | N | 0.486632794142 | 5-UTR | KIAA1143 | NM_001320334 NM_020696 | U-266/84 | ovary | ||||||||||||
chr3 | 44826315 | 44826337 | GTTTTTTTTTTCATTTTTTTAGG | GTTTTTTTTTTTCATTTTTTTAGG | D | 0.980523943901 | frameshift substitution | KIF15 | NM_020242 | 6 | 362 | kinesin family member 15 | MOLT-4 | testis | |||||||||
chr3 | 44854563 | 44854563 | A | G | rs3762636 | N | 6.73015238135e-05 | 0.540935 | intronic | KIF15 | kinesin family member 15 | MOLT-4 | testis | ||||||||||
chr3 | 44884647 | 44884647 | C | A | rs3804583 | N | 4.76758472701e-08 | 0.527756 | N | N | N | N | nonsynonymous SNV | KIF15 | NM_020242 | 30 | 3616 | 1206 | L=>M | kinesin family member 15 | MOLT-4 | testis | |
chr3 | 44929287 | 44929287 | G | C | rs2271087 | N | 1.42893298971e-07 | 0.427117 | D | P | P | D | nonsynonymous SNV | TGM4 | NM_003241 | 3 | 300 | 100 | E=>D | transglutaminase 4 (prostate) | BEWO | prostate | |
chr3 | 44930014 | 44930014 | C | T | rs12632251 | N | 2.32974795011e-08 | 0.426518 | intronic | TGM4 | transglutaminase 4 (prostate) | BEWO | prostate | ||||||||||
chr3 | 44943389 | 44943389 | G | A | rs1995641 | N | 6.09608861168e-08 | 0.555112 | N | P | N | N | nonsynonymous SNV | TGM4 | NM_003241 | 8 | 937 | 313 | E=>K | transglutaminase 4 (prostate) | BEWO | prostate | |
chr3 | 45715159 | 45715165 | CTTTTAG | CTTTAG | N | 0.365564525127 | intronic | LIMD1 | LIM domains containing 1 | U-266/84 | lung | ||||||||||||
chr3 | 46501284 | 46501286 | CCT | CCTTCT | N | 0.00804625824094 | nonframeshift substitution | LTF | NM_002343 | 2 | 67 | lactotransferrin | RPMI-8226 | bone marrow | |||||||||
chr3 | 46717065 | 46717065 | C | G | rs7635360 | N | 6.11978450138e-08 | 0.308307 | intronic | ALS2CL | ALS2 C-terminal like | CAPAN-2 | skin | ||||||||||
chr3 | 47125385 | 47125385 | G | A | rs4082155 | N | 1.99896488251e-10 | 0.469848 | N | N | N | N | nonsynonymous SNV | SETD2 | NM_014159 | 12 | 5885 | 1962 | P=>L | SET domain containing 2 | Daudi | bone marrow | |
chr3 | 47147393 | 47147427 | CAAAAAAAAAAAAAAAAAAAAAATCAAATCAGTAT | CAAAAAAAAAAAAAAAAAAATCAAATCAGTAT | N | 0.402186155319 | intronic | SETD2 | SET domain containing 2 | Daudi | bone marrow | ||||||||||||
chr3 | 47161214 | 47161214 | T | C | rs11923706 | N | 2.7186709417e-07 | 0.679313 | intronic | SETD2 | SET domain containing 2 | Daudi | bone marrow | ||||||||||
chr3 | 47282303 | 47282303 | G | A | rs2276853 | N | 4.73133127343e-07 | 0.560104 | D | D | P | N | nonsynonymous SNV | KIF9 | NM_001134878 NM_182902 NM_022342 | 18,17,16 | 1912,1912,1717 | 638,638,573 | R=>W,R=>W,R=>W | kinesin family member 9 | PC-3 | testis | |
chr3 | 47322496 | 47322496 | C | T | rs807936 | N | 0.274132907391 | 0.488219 | intronic | KIF9 | kinesin family member 9 | PC-3 | testis | ||||||||||
chr3 | 47459679 | 47459679 | C | T | rs12487736 | N | 0.486632794142 | 0.452276 | N | N | N | N | exonic | SCAP | SREBF chaperone | HEL | adrenal gland | ||||||
chr3 | 47555142 | 47555142 | C | A | rs2291298 | N | 0.486632794142 | 0.517772 | 5-UTR | ELP6 | NM_001031703 | HEL | adrenal gland | ||||||||||
chr3 | 49040462 | 49040462 | A | G | rs6772452 | N | 2.01562586066e-11 | 0.796725 | intronic | P4HTM | prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) | CAPAN-2 | thyroid gland | ||||||||||
chr3 | 49054692 | 49054692 | T | C | rs3087866 | N | 0.000216675820411 | 0.904952 | N | N | N | N | nonsynonymous SNV | DALRD3 | NM_001276405 NM_001009996 NM_018114 | 5,5,5 | 896,896,395 | 299,299,132 | Q=>R,Q=>R,Q=>R | DALR anticodon binding domain containing 3 | U-266/70 | testis | |
chr3 | 49298139 | 49298139 | G | A | rs7626076 | N | 4.09788158962e-09 | 0.875 | intergenic | ||||||||||||||
chr3 | 49739507 | 49739507 | G | C | rs1491985 | N | 1.58021616625e-11 | 0.848442 | intronic | RNF123 | ring finger protein 123 | NB-4 | bone marrow | ||||||||||
chr3 | 49750188 | 49750188 | T | A | rs3749240 | N | 3.81185127907e-09 | 0.597045 | intronic | RNF123 | ring finger protein 123 | NB-4 | bone marrow | ||||||||||
chr3 | 49753003 | 49753003 | T | G | rs34614773 | N | 3.63357030437e-05 | 0.584864 | intronic | RNF123 | ring finger protein 123 | NB-4 | bone marrow | ||||||||||
chr3 | 50222926 | 50222926 | T | A | rs1046956 | N | 7.89481049424e-08 | 0.765974 | N | N | N | N | exonic | SEMA3F | sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F | TIME | skin | ||||||
chr3 | 50226151 | 50226151 | T | C | rs14321 | N | 1.7486494891e-11 | 0.767173 | 3-UTR | SEMA3F | NM_001318798 NM_004186 NM_001318800 | sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F | TIME | skin | |||||||||
chr3 | 50594836 | 50594836 | G | A | rs129310 | N | 9.60542820394e-07 | 0.711661 | downstream | C3orf18 | HDLM-2 | heart muscle | |||||||||||
chr3 | 50686062 | 50686062 | G | A | rs1385025 | N | 2.16179341095e-09 | 0.720048 | 3-UTR | MAPKAPK3 | NM_001243926 NM_001243925 NM_004635 | mitogen-activated protein kinase-activated protein kinase 3 | U-937 | heart muscle | |||||||||
chr3 | 52852060 | 52852060 | T | C | rs2245538 | N | 3.72562294615e-06 | 0.507788 | intronic | ITIH4 | inter alpha-trypsin inhibitor, heavy chain 4 | U-266/70 | liver | ||||||||||
chr3 | 53258708 | 53258716 | TGGGGGGCA | TGGGGGGGCA | N | 2.49262598118e-07 | downstream | TKT | transketolase | A-549 | bone marrow | ||||||||||||
chr3 | 53910109 | 53910129 | TGGGGGGGGAAAAGAAAAGGC | TGGGGGGGGGAAAAAAAAAGGC | D | 0.81317025423 | intronic | ACTR8 | ARP8 actin-related protein 8 | U-266/84 | testis | ||||||||||||
chr3 | 53910109 | 53910129 | TGGGGGGGGAAAAGAAAAGGC | TGGGGGGGGGAAAAAAAGGC | D | 0.81317025423 | intronic | ACTR8 | ARP8 actin-related protein 8 | U-266/84 | testis | ||||||||||||
chr3 | 53915884 | 53915895 | TCCCCCCACCAG | TCCCCACCAG | N | 0.486632794142 | intronic | ACTR8 | ARP8 actin-related protein 8 | U-266/84 | testis | ||||||||||||
chr3 | 53926017 | 53926017 | T | C | rs1992155 | N | 0.00591701222584 | 0.682508 | upstream | SELK | |||||||||||||
chr3 | 61547274 | 61547274 | G | A | rs73093079 | N | 0.486632794142 | 0.0595048 | 5-UTR | PTPRG | NM_002841 | protein tyrosine phosphatase, receptor type, G | U-2197 | adipose tissue | |||||||||
chr3 | 62355666 | 62355688 | GTTTTTTTTTCTTTTAATTTTAG | GTTTTTTTTTTCTTTTAATTTTAG | N | 0.15946213901 | 3-UTR | FEZF2 | NM_018008 | Fez family zinc finger 2 | NTERA-2 | cerebral cortex | |||||||||||
chr3 | 69218696 | 69218696 | T | C | rs12494541 | N | 6.27858165458e-09 | 0.847444 | 3-UTR | FRMD4B | NM_015123 | FERM domain containing 4B | CACO-2 | thyroid gland | |||||||||
chr3 | 73159985 | 73159991 | AAAACGT | CAAAGGC | N | 0.486632794142 | intergenic | ||||||||||||||||
chr3 | 73160015 | 73160015 | T | A | rs113413057 | N | 0.486632794142 | intergenic | |||||||||||||||
chr3 | 73160022 | 73160022 | T | G | rs111744105 | N | 0.486632794142 | intergenic | |||||||||||||||
chr3 | 73160034 | 73160036 | TGG | CGC | N | 0.486632794142 | intergenic | ||||||||||||||||
chr3 | 73160050 | 73160054 | AAGGC | GAGGG | N | 0.486632794142 | intergenic | ||||||||||||||||
chr3 | 73160059 | 73160059 | A | G | rs77103175 | N | 0.486632794142 | intergenic | |||||||||||||||
chr3 | 7732726 | 7732742 | ATTTTTTTTTTTGGCTG | ATTTTTTTTTTGGCTG | N | 0.0415328480303 | intronic | GRM7 | glutamate receptor, metabotropic 7 | SH-SY5Y | cerebral cortex | ||||||||||||
chr3 | 8669361 | 8669361 | C | A | rs1533001 | N | 2.19304226334e-07 | 0.460064 | intronic | SSUH2 | Hep-G2 | testis | |||||||||||
chr3 | 8671319 | 8671342 | CTGACTCACCAGTGGTTCACAGAT | CTGACTCACCAGTGGTTCACAGATGACTCACCAGTGGTTCACAGAT | N | 0.038804050535 | intronic | SSUH2 | Hep-G2 | testis | |||||||||||||
chr3 | 9798773 | 9798773 | C | G | rs1052133 | N | 9.25346171243e-07 | 0.302117 | N | N | N | N | nonsynonymous SNV | OGG1 | NM_002542 NM_016820 | 7,7 | 977,994 | 326,332 | S=>C,P=>A | Daudi | kidney | ||
chr3 | 98501760 | 98501762 | TAC | TAAAAC | D | 0.987064957619 | 5-UTR | ST3GAL6 | NM_001323358 NM_001323359 | ST3 beta-galactoside alpha-2,3-sialyltransferase 6 | SK-MEL-30 | heart muscle | |||||||||||
chr3 | 98501764 | 98501767 | CAGC | CC | D | 0.996758162975 | 5-UTR | ST3GAL6 | NM_001323358 NM_001323359 | ST3 beta-galactoside alpha-2,3-sialyltransferase 6 | SK-MEL-30 | heart muscle | |||||||||||
chr3 | 9932337 | 9932337 | G | C | rs279558 | N | 0.486632794142 | 0.623203 | 5-UTR | JAGN1 | NM_032492 | jagunal homolog 1 (Drosophila) | BEWO | adrenal gland | |||||||||
chr4 | 1005384 | 1005391 | CGGGGGTC | CGGGGTC | N | 0.262174546719 | upstream | FGFRL1 | fibroblast growth factor receptor-like 1 | PC-3 | thyroid gland | ||||||||||||
chr4 | 10168712 | 10168712 | G | T | rs6842858 | N | 3.15180628263e-08 | 0.972644 | intergenic | ||||||||||||||
chr4 | 10168737 | 10168737 | C | G | rs6813634 | N | 3.32903411504e-08 | 0.971046 | intergenic | ||||||||||||||
chr4 | 1050653 | 1050653 | G | A | rs3816474 | N | 1.44712380967e-10 | 0.835264 | intergenic | ||||||||||||||
chr4 | 10669522 | 10669522 | A | C | rs13136927 | N | 2.0060551833e-05 | 0.411741 | 5-UTR | CLNK | NM_052964 | cytokine-dependent hematopoietic cell linker | HDLM-2 | kidney | |||||||||
chr4 | 1087168 | 1087171 | AATG | AATATT | N | 0.00693936832249 | 3-UTR | RNF212 | NM_001193318 | ring finger protein 212 | HeLa | ovary | |||||||||||
chr4 | 1087327 | 1087329 | GAC | GCTGCCCAGGCTGGAGCCAGCCAT | N | 0.000620116945356 | nonframeshift substitution | RNF212 | NM_001193318 | 4 | 720 | ring finger protein 212 | HeLa | ovary | |||||||||
chr4 | 1090625 | 1090625 | G | A | rs4045481 | N | 1.80078973244e-06 | 0.546725 | synonymous SNV | RNF212 | NM_001193318 NM_001131034 NM_194439 | 3,3,3 | 174,58,174,58,174,58 | 58,58,58 | T=>T,T=>T,T=>T | ring finger protein 212 | HeLa | ovary | |||||
chr4 | 1164277 | 1164277 | C | G | rs2279279 | N | 8.23881521228e-07 | 0.553315 | N | N | N | N | nonsynonymous SNV | SPON2 | NM_001128325 NM_001199021 NM_012445 | 6,7,5 | 724,724,724 | 242,242,242 | V=>L,V=>L,V=>L | spondin 2, extracellular matrix protein | Karpas-707 | prostate | |
chr4 | 1165130 | 1165130 | G | T | rs11247975 | N | 0.00462894048542 | 0.554513 | N | N | N | N | nonsynonymous SNV | SPON2 | NM_001128325 NM_001199021 NM_012445 | 4,5,3 | 365,365,365 | 122,122,122 | A=>E,A=>E,A=>E | spondin 2, extracellular matrix protein | Karpas-707 | prostate | |
chr4 | 1222302 | 1222302 | G | A | rs900020 | N | 4.64310756509e-10 | 0.627796 | intronic | CTBP1 | C-terminal binding protein 1 | MOLT-4 | spleen | ||||||||||
chr4 | 1235643 | 1235643 | A | G | rs2101094 | N | 4.89203785037e-06 | 0.840056 | intronic | CTBP1 | C-terminal binding protein 1 | MOLT-4 | spleen | ||||||||||
chr4 | 1244416 | 1244416 | A | G | rs1732115 | N | 8.08847238319e-13 | 0.819089 | ncRNA | CTBP1-AS2 | |||||||||||||
chr4 | 128415066 | 128415095 | CAAAAAAAAAAAAAAAAACACAGTAAAGAC | CAAAAAAAAAAAAAAACACAGTAAAGAC | N | 0.0134770087898 | intergenic | ||||||||||||||||
chr4 | 128415066 | 128415095 | CAAAAAAAAAAAAAAAAACACAGTAAAGAC | CAAAAAAAAAAAAAACACAGTAAAGAC | N | 0.00644071958959 | intergenic | ||||||||||||||||
chr4 | 1303682 | 1303682 | G | T | rs13112706 | N | 0.0261177197099 | 0.238019 | 5-UTR | MAEA | NM_001297433 | macrophage erythroblast attacher | SCLC-21H | spleen | |||||||||
chr4 | 1388790 | 1388790 | T | C | rs79415192 | N | 0.0251526664943 | N | N | N | N | nonsynonymous SNV | CRIPAK | NM_175918 | 1 | 491 | 164 | V=>A | TIME | skin | |||
chr4 | 1389005 | 1389006 | TG | CA | N | 0.479299396276 | nonframeshift substitution | CRIPAK | NM_175918 | 1 | 706 | TIME | skin | ||||||||||
chr4 | 1389101 | 1389101 | A | G | rs71614971 | N | 0.033961918205 | 0.19988 | N | N | N | N | nonsynonymous SNV | CRIPAK | NM_175918 | 1 | 802 | 268 | S=>G | TIME | skin | ||
chr4 | 139100372 | 139100372 | C | T | rs4479754 | N | 1.58008504059e-06 | 0.913538 | intronic | SLC7A11(NM_014331:exon12:c.1442+1G>A) | |||||||||||||
chr4 | 139585573 | 139585573 | C | T | rs6823417 | N | 3.29823890421e-10 | 0.617013 | intergenic | ||||||||||||||
chr4 | 144938047 | 144938047 | C | T | rs12503691 | N | 0.00169994239695 | 0.319089 | intronic | GYPB | HEL | bone marrow | |||||||||||
chr4 | 1551794 | 1551794 | G | T | rs73192390 | N | 1.06068137029e-05 | 0.804712 | intergenic | ||||||||||||||
chr4 | 1553257 | 1553257 | T | C | rs73192392 | N | 4.56775453017e-08 | 0.760783 | intergenic | ||||||||||||||
chr4 | 15964863 | 15964863 | G | T | rs4698433 | N | 0.418328940868 | 0.345647 | upstream | FGFBP2 | SK-MEL-30 | bone marrow | |||||||||||
chr4 | 160322728 | 160322730 | CTC | CTTC | N | 0.000317425554385 | intergenic | ||||||||||||||||
chr4 | 1641578 | 1641578 | A | G | rs6829285 | N | 0.00104728818405 | 0.274161 | downstream | FAM53A | family with sequence similarity 53, member A | SCLC-21H | testis | ||||||||||
chr4 | 165949047 | 165949047 | A | G | rs4691144 | N | 0.000617920479272 | 0.998602 | intergenic | ||||||||||||||
chr4 | 165981768 | 165981782 | GTTTTTTTTTAATGG | GTTTTTTTTTTAATGG | N | 0.00328917056322 | intergenic | ||||||||||||||||
chr4 | 183271186 | 183271201 | GAAAAAAAAAAATGTT | GAAAAAAAAAAAAATGTT | N | 0.0151469735429 | intronic | TENM3 | teneurin transmembrane protein 3 | HDLM-2 | placenta | ||||||||||||
chr4 | 185860274 | 185860274 | A | C | rs6846090 | N | 3.5998187542e-08 | 0.877796 | upstream | MIR4455 | |||||||||||||
chr4 | 187065876 | 187065905 | GCGGGGCCGGGGCCGGGGCCGGGGCCCGGA | GCGGGGCCGGGGCCGGGGCCCGGA | N | 0.151240393519 | upstream | FAM149A | family with sequence similarity 149, member A | SCLC-21H | kidney | ||||||||||||
chr4 | 187065924 | 187065924 | A | G | rs2310392 | N | 7.96556851128e-05 | 0.888578 | upstream | FAM149A | family with sequence similarity 149, member A | SCLC-21H | kidney | ||||||||||
chr4 | 190580654 | 190580654 | C | A | rs62325033 | N | 7.73592983023e-05 | upstream | LINC01262 | ||||||||||||||
chr4 | 190582969 | 190582969 | G | A | rs2148725 | N | 0.000493541709147 | downstream | LINC01262 | ||||||||||||||
chr4 | 190582977 | 190582981 | TGGAG | CGGAA | N | 0.000371191999875 | downstream | LINC01262 | |||||||||||||||
chr4 | 190583004 | 190583010 | TGGTGTG | GGGCATT | N | 7.43505665923e-08 | downstream | LINC01262 | |||||||||||||||
chr4 | 190598318 | 190598318 | G | T | rs5010097 | N | 0.000805710500572 | upstream | LOC105379514 | ||||||||||||||
chr4 | 199208 | 199208 | A | G | rs61794993 | N | 7.62341798577e-08 | 0.396166 | intergenic | ||||||||||||||
chr4 | 199286 | 199286 | A | G | rs61794994 | N | 3.29684326061e-07 | 0.399361 | intergenic | ||||||||||||||
chr4 | 2010831 | 2010831 | G | C | rs231189 | N | 0.486632794142 | 0.308906 | 5-UTR | NELFA | NM_005663 | NB-4 | testis | ||||||||||
chr4 | 2287421 | 2287421 | A | C | rs11737692 | N | 1.03191633016e-08 | 0.630591 | intronic | ZFYVE28 | zinc finger, FYVE domain containing 28 | U-266/70 | small intestine | ||||||||||
chr4 | 2332319 | 2332319 | C | G | rs3135115 | N | 1.77449365424e-07 | 0.203474 | 3-UTR | ZFYVE28 | NM_001172657 | zinc finger, FYVE domain containing 28 | U-266/70 | small intestine | |||||||||
chr4 | 247825 | 247825 | G | A | rs10028482 | N | 2.40000841423e-09 | 0.291534 | ncRNA | ZNF876P | |||||||||||||
chr4 | 25759109 | 25759132 | CTTTTTTTTTTTTTAATATATTGC | CCTTTTTTTTTTTTAATATATTGC | N | 0.0102034285665 | intronic | SEL1L3 | sel-1 suppressor of lin-12-like 3 (C. elegans) | Daudi | lymph node | ||||||||||||
chr4 | 264941 | 264941 | A | G | rs11731285 | D | 0.999278843403 | 0.265575 | N | N | N | N | nonsynonymous SNV | ZNF732 | NM_001137608 | 3 | 1702 | 568 | W=>R | NTERA-2 | testis | ||
chr4 | 26862546 | 26862572 | CTTTTTTTTTTTTTTTTTTAAATAACC | CTTTTTTTTTTTTTTTTAAATAACC | N | 0.39336180687 | 5-UTR | STIM2 | NM_001169117 NM_001169118 NM_020860 | stromal interaction molecule 2 | REH | lymph node | |||||||||||
chr4 | 299261 | 299261 | G | A | rs79657896 | N | 0.162662908435 | 0.138978 | intergenic | ||||||||||||||
chr4 | 3076603 | 3076661 | CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC | CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC | N | 0.0251071602106 | exonic | HTT | huntingtin | HMC-1 | skin | ||||||||||||
chr4 | 3274214 | 3274214 | T | C | rs6446726 | N | 2.2055512261e-07 | 0.565495 | intergenic | ||||||||||||||
chr4 | 3635811 | 3635811 | C | T | rs1977175 | N | 1.70847613834e-09 | 0.993011 | intergenic | ||||||||||||||
chr4 | 368258 | 368258 | T | C | rs3805233 | N | 0.00217058998533 | 0.13758 | downstream | ZNF141 | SCLC-21H | adrenal gland | |||||||||||
chr4 | 3759538 | 3759538 | T | G | rs3934515 | N | 2.83611115037e-07 | 0.985623 | intergenic | ||||||||||||||
chr4 | 3765190 | 3765190 | C | T | rs56130178 | N | 2.32778529607e-05 | 0.215256 | intergenic | ||||||||||||||
chr4 | 37822203 | 37822205 | GGT | GCGT | N | 0.0310036502779 | intergenic | ||||||||||||||||
chr4 | 37828175 | 37828175 | T | C | rs2059484 | N | 0.486632794142 | 0.686502 | upstream | PGM2 | phosphoglucomutase 2 | U-251-MG | esophagus | ||||||||||
chr4 | 38387900 | 38387900 | C | G | rs6812640 | N | 4.26505608608e-10 | 0.405152 | intergenic | ||||||||||||||
chr4 | 387579 | 387590 | CTCTTTTCTTTA | CTCTTTA | N | 0.001904511475 | intergenic | ||||||||||||||||
chr4 | 39046586 | 39046588 | CAG | CG | N | 0.221345037222 | 5-UTR | KLHL5 | NM_001007075 NM_001171654 | kelch-like 5 (Drosophila) | U-138-MG | adipose tissue | |||||||||||
chr4 | 39276623 | 39276625 | AGT | AGGT | D | 0.579039692879 | intronic | WDR19 | WD repeat domain 19 | HeLa | thyroid gland | ||||||||||||
chr4 | 39368083 | 39368083 | C | T | rs3736168 | N | 0.486632794142 | 0.414736 | upstream | RFC1 | replication factor C (activator 1) 1 | MOLT-4 | lymph node | ||||||||||
chr4 | 41985101 | 41985101 | A | G | rs2660332 | N | 5.32428884981e-07 | 0.661542 | 3-UTR | DCAF4L1 | NM_001029955 | REH | testis | ||||||||||
chr4 | 4199634 | 4199634 | A | T | rs2916414 | N | 2.22345164502e-07 | 0.66234 | N | N | N | N | nonsynonymous SNV | OTOP1 | NM_177998 | 5 | 927 | 309 | D=>E | otopetrin 1 | A-431 | esophagus | |
chr4 | 420688 | 420688 | C | T | rs2280250 | N | 6.12520310028e-08 | 0.389377 | ncRNA | ABCA11P | |||||||||||||
chr4 | 42403561 | 42403561 | T | C | rs55934419 | N | 0.0886866822839 | 0.327276 | 3-UTR | SHISA3 | NM_001080505 | shisa homolog 3 (Xenopus laevis) | AN3-CA | kidney | |||||||||
chr4 | 42659028 | 42659028 | T | C | rs12503784 | N | 3.65528831026e-05 | 0.443291 | 5-UTR | ATP8A1 | NM_001105529 NM_006095 | ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 | Daudi | thyroid gland | |||||||||
chr4 | 42659139 | 42659139 | G | A | rs4629487 | N | 0.00393511354923 | 0.273363 | upstream | ATP8A1 | ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 | Daudi | thyroid gland | ||||||||||
chr4 | 46334702 | 46334702 | A | G | rs279827 | N | 3.21460720443e-05 | 0.412939 | intronic | GABRA2 | gamma-aminobutyric acid (GABA) A receptor, subunit alpha 2 | U-2-OS | cerebral cortex | ||||||||||
chr4 | 49212012 | 49212016 | ACTGA | TCTGT | D | 0.999999284744 | intergenic | ||||||||||||||||
chr4 | 49589986 | 49589987 | TG | CA | D | 0.999999761581 | intergenic | ||||||||||||||||
chr4 | 57180576 | 57180581 | CGGAGC | CGGAGCGGAGGGAGCGGAGGGAGC | N | 9.38352684443e-09 | nonframeshift substitution | KIAA1211 | NM_020722 | 8 | 908 | SH-SY5Y | testis | ||||||||||
chr4 | 5803669 | 5803669 | T | C | rs1031919 | N | 2.18017532916e-08 | 0.690495 | intronic | EVC | Ellis van Creveld gene syndrome | U-87-MG | ovary | ||||||||||
chr4 | 69910382 | 69910382 | T | A | rs4694588 | N | 0.000302175467368 | 0.469449 | intergenic | ||||||||||||||
chr4 | 71570134 | 71570134 | G | A | rs1891451 | N | 2.34794317322e-09 | 0.415535 | upstream | RUFY3 | RUN and FYVE domain containing 3 | SCLC-21H | cerebral cortex | ||||||||||
chr4 | 71570255 | 71570255 | G | A | rs3753042 | N | 0.00209883297794 | 0.858427 | upstream | RUFY3 | RUN and FYVE domain containing 3 | SCLC-21H | cerebral cortex | ||||||||||
chr4 | 71767906 | 71767906 | T | A | rs1871049 | N | 0.00147045135964 | 0.932907 | upstream | MOB1B | MOB kinase activator 1B | HEL | kidney | ||||||||||
chr4 | 72670632 | 72670653 | GGGAGGAGGAGGAGGAGGAGGC | GGGAGGAGGAGGAGGAGGC | N | 0.0769145786762 | intronic | GC | group specific component | RH-30 | liver | ||||||||||||
chr4 | 73672263 | 73672263 | T | C | rs2622683 | N | 2.23147225142e-08 | 0.970048 | intergenic | ||||||||||||||
chr4 | 74410237 | 74410237 | G | A | rs11728915 | N | 5.01283193444e-06 | 0.552915 | intergenic | ||||||||||||||
chr4 | 74464443 | 74464460 | TAAAAAAAAATTAATTAC | TAAAAAAAATTAATTAC | D | 0.623769879341 | intronic | RASSF6 | Ras association (RalGDS/AF-6) domain family member 6 | Daudi | stomach | ||||||||||||
chr4 | 7655855 | 7655855 | C | T | rs2285789 | N | 2.01534201724e-18 | 0.552316 | intronic | SORCS2 | sortilin-related VPS10 domain containing receptor 2 | SiHa | cerebral cortex | ||||||||||
chr4 | 7716061 | 7716061 | C | T | rs16840892 | N | 1.67749976754e-06 | 0.109425 | N | N | N | N | nonsynonymous SNV | SORCS2 | NM_020777 | 16 | 2084 | 695 | T=>M | sortilin-related VPS10 domain containing receptor 2 | SiHa | cerebral cortex | |
chr4 | 78978412 | 78978412 | T | C | rs28433362 | N | 0.018848977983 | 0.547724 | upstream | FRAS1 | Fraser syndrome 1 homolog (human) | SiHa | thyroid gland | ||||||||||
chr4 | 7966812 | 7966812 | G | A | rs4696709 | N | 0.259469091892 | 0.291733 | downstream | ABLIM2 | actin-binding LIM protein 2 | U-2197 | spleen | ||||||||||
chr4 | 82136500 | 82136500 | G | C | rs788862 | N | 0.00179398071487 | 0.289537 | upstream | PRKG2 | protein kinase, cGMP-dependent, type II | HEL | small intestine | ||||||||||
chr4 | 84456142 | 84456142 | G | C | rs7672304 | N | 0.0032444675453 | 0.409345 | upstream | GPAT3 | |||||||||||||
chr4 | 89378056 | 89378061 | CGGGAC | CGGGGAC | N | 0.486632794142 | upstream | HERC5 | SK-MEL-30 | testis | |||||||||||||
chr4 | 9154426 | 9154426 | C | T | rs144776921 | N | 0.486632794142 | 0.896765 | intergenic | ||||||||||||||
chr4 | 9154448 | 9154448 | A | G | rs144519707 | N | 0.486632794142 | 0.896765 | intergenic | ||||||||||||||
chr4 | 9154535 | 9154535 | T | C | rs34664951 | N | 0.00699609564617 | 0.910942 | intergenic | ||||||||||||||
chr4 | 942006 | 942006 | G | A | rs2290403 | N | 0.486632794142 | 0.291933 | 5-UTR | TMEM175 | NM_001297423 NM_001297427 | transmembrane protein 175 | Karpas-707 | spleen | |||||||||
chr4 | 9470737 | 9470737 | A | G | rs6852208 | N | 0.0103483898565 | intergenic | |||||||||||||||
chr4 | 954275 | 954277 | TGT | CGC | N | 0.00165271980222 | 3-UTR | DGKQ | NM_001347 | diacylglycerol kinase, theta | NB-4 | small intestine | |||||||||||
chr4 | 9565776 | 9565776 | A | G | rs13107224 | N | 2.35611409494e-07 | 0.994808 | intergenic | ||||||||||||||
chr4 | 9601365 | 9601365 | C | T | rs1842489 | N | 8.94097411219e-07 | 0.848043 | intergenic | ||||||||||||||
chr4 | 9693525 | 9693525 | T | G | rs6836657 | N | 0.0259339846671 | 0.996406 | intergenic | ||||||||||||||
chr5 | 102091073 | 102091073 | T | C | rs447531 | N | 0.0212606247514 | 0.504393 | intronic | PAM | peptidylglycine alpha-amidating monooxygenase | U-87-MG | heart muscle | ||||||||||
chr5 | 102886512 | 102886512 | T | C | rs58006145 | N | 0.128137916327 | 0.246406 | 3-UTR | NUDT12 | NM_001300741 NM_031438 | CAPAN-2 | kidney | ||||||||||
chr5 | 102890560 | 102890574 | GAAAAAAAAAATCAG | GAAAAAAAAAAATCAG | N | 0.273600041866 | intronic | NUDT12 | CAPAN-2 | kidney | |||||||||||||
chr5 | 109220640 | 109220640 | A | G | rs34709715 | N | 5.39237007615e-05 | ncRNA | LOC100289673 | ||||||||||||||
chr5 | 111500816 | 111500822 | CTAAAAT | CTAAAATAAAAT | D | 0.999638319016 | intronic | EPB41L4A | HeLa | gallbladder | |||||||||||||
chr5 | 111754851 | 111754851 | C | G | rs3749742 | N | 0.0042657344602 | 0.279952 | 5-UTR | EPB41L4A | NM_022140 | HeLa | gallbladder | ||||||||||
chr5 | 115298232 | 115298232 | G | C | rs9326980 | N | 2.63764232677e-10 | 0.774161 | 5-UTR | LVRN | NM_173800 | ||||||||||||
chr5 | 115339086 | 115339086 | A | G | rs6594929 | N | 1.42616878307e-08 | 0.811701 | intronic | LVRN | |||||||||||||
chr5 | 115628120 | 115628143 | CTTTTTTTTTTTTTGTCTTTGTAA | CTTTTTTTTTTTTGTCTTTGTAA | D | 0.999148845673 | intronic | COMMD10 | COMM domain containing 10 | U-937 | thyroid gland | ||||||||||||
chr5 | 118690998 | 118690998 | A | G | rs3813309 | N | 0.000875047815498 | 0.7502 | 5-UTR | TNFAIP8 | NM_001286813 | tumor necrosis factor, alpha-induced protein 8 | Karpas-707 | lymph node | |||||||||
chr5 | 120021817 | 120021819 | CCG | ACA | N | 0.0134699996561 | nonframeshift substitution | PRR16 | NM_016644 NM_001308087 NM_001308088 NM_001300783 | 3,2,4,2 | 259,118,118,328 | proline rich 16 | U-138-MG | heart muscle | |||||||||
chr5 | 120021817 | 120021819 | CCG | CCA | N | 0.0134699996561 | nonframeshift substitution | PRR16 | NM_016644 NM_001308087 NM_001308088 NM_001300783 | 3,2,4,2 | 259,118,118,328 | proline rich 16 | U-138-MG | heart muscle | |||||||||
chr5 | 122359502 | 122359536 | AACACACACACACACACACACACACACACACCCCT | AACACACACACACACACACACACACACACACACCCCT | D | 0.92841476202 | 3-UTR | PPIC | NM_000943 | peptidylprolyl isomerase C | AN3-CA | urinary bladder | |||||||||||
chr5 | 1295349 | 1295349 | A | G | rs2853669 | N | 0.0123639889061 | 0.297923 | upstream | TERT | PULMONARY FIBROSIS, TELOMERE-RELATED, 1 | telomerase reverse transcriptase | TIME | lymph node | |||||||||
chr5 | 131811777 | 131811777 | A | C | rs2706382 | N | 1.58132784211e-12 | 0.90655 | downstream | C5orf56 | |||||||||||||
chr5 | 133186929 | 133186929 | A | C | rs4593321 | N | 4.62318017203e-10 | 0.964457 | intergenic | ||||||||||||||
chr5 | 138271303 | 138271303 | T | C | rs7713581 | N | 3.34709018314e-12 | 0.95008 | downstream | CTNNA1 | catenin (cadherin associated protein), alpha 1 | CACO-2 | esophagus | ||||||||||
chr5 | 141339522 | 141339522 | A | G | rs252110 | N | 4.21264644501e-07 | 0.926318 | upstream | PCDH12 | protocadherin 12 | Karpas-707 | placenta | ||||||||||
chr5 | 141693389 | 141693428 | AGGGGGGGGGGGCGGAGGGAGGGAGGGAGAAGGAGGGGCT | AGGGGGGGGCGGAGGGAGGGAGGGAGAAGGAGGGGCT | D | 0.660245060921 | 3-UTR | SPRY4 | NM_001293289 NM_001293290 NM_001127496 NM_030964 | sprouty homolog 4 (Drosophila) | WM-115 | lung | |||||||||||
chr5 | 150696301 | 150696335 | CAAAAAAAAAAAAAAAAAAAAAAAGAGATCCATAT | CAAAAAAAAAAAAAAAAAAAAAAAAAGAGATCCATAT | N | 0.000773167936131 | 3-UTR | SLC36A2 | NM_181776 | solute carrier family 36 (proton/amino acid symporter), member 2 | HDLM-2 | kidney | |||||||||||
chr5 | 15385105 | 15385105 | C | T | rs3849084 | N | 3.67100750839e-12 | 1 | intergenic | ||||||||||||||
chr5 | 169761621 | 169761645 | CTTTTTTTTTTTCTTTTTAAATCTC | CTTTTTTTTTTTTCTTTTTAAATCTC | N | 0.0085302516818 | ncRNA | LINC01366 | |||||||||||||||
chr5 | 169762142 | 169762146 | GAACT | GACC | N | 0.00189291313291 | downstream | LINC01366 | |||||||||||||||
chr5 | 170210090 | 170210090 | A | G | rs7722089 | N | 1.27612365119e-09 | 0.725639 | upstream | GABRP | gamma-aminobutyric acid (GABA) A receptor, pi | EFO-21 | esophagus | ||||||||||
chr5 | 171760544 | 171760546 | TAA | TT | D | 0.999584257603 | 3-UTR | SH3PXD2B | NM_001017995 | SH3 and PX domains 2B | BEWO | gallbladder | |||||||||||
chr5 | 172247400 | 172247400 | A | C | rs793001 | N | 1.81986532201e-15 | 0.69369 | intergenic | ||||||||||||||
chr5 | 175731328 | 175731328 | G | C | rs9763642 | N | 0.000699203228578 | 0.402356 | intronic | SIMC1 | K-562 | ovary | |||||||||||
chr5 | 176056806 | 176056806 | C | T | rs6879864 | N | 1.07095754487e-09 | 0.926318 | intronic | SNCB | synuclein, beta | SCLC-21H | cerebral cortex | ||||||||||
chr5 | 176086083 | 176086083 | T | C | rs4868679 | N | 0.134295240045 | 0.96845 | downstream | TSPAN17 | HDLM-2 | bone marrow | |||||||||||
chr5 | 176086089 | 176086089 | G | C | rs4868680 | N | 0.122446738183 | 0.96845 | downstream | TSPAN17 | HDLM-2 | bone marrow | |||||||||||
chr5 | 176513460 | 176513460 | A | G | rs641101 | N | 1.97019033976e-07 | 0.698283 | upstream | FGFR4 | fibroblast growth factor receptor 4 | RH-30 | lung | ||||||||||
chr5 | 179072567 | 179072567 | C | T | rs11959704 | N | 1.57774067588e-07 | 0.707468 | upstream | C5orf60 | SCLC-21H | testis | |||||||||||
chr5 | 179514055 | 179514078 | CTTTTTTTTTTTTTTTTTACACAG | CTTTTTTTTTTTTTTTTTTACACAG | N | 0.000888057867996 | intergenic | ||||||||||||||||
chr5 | 180076824 | 180076824 | A | G | rs188655 | N | 1.08966514745e-06 | 0.961062 | upstream | FLT4 | FMS-like tyrosine kinase 4 | HEK-293 | spleen | ||||||||||
chr5 | 19143227 | 19143235 | CCGCGCGCA | CCGCGCA | N | 0.0113812265918 | intergenic | ||||||||||||||||
chr5 | 19143341 | 19143341 | C | G | rs9292496 | N | 8.08984612632e-09 | 0.841054 | intergenic | ||||||||||||||
chr5 | 2787379 | 2787383 | CTTCA | CTCA | N | 0.020040018484 | intergenic | ||||||||||||||||
chr5 | 37839633 | 37839633 | T | C | rs2973033 | N | 1.57796712301e-05 | 0.405351 | 5-UTR | GDNF | NM_000514 | WM-115 | placenta | ||||||||||
chr5 | 54529458 | 54529458 | C | G | rs231623 | N | 0.133563384414 | 0.645767 | 5-UTR | CCNO | NM_021147 | cyclin O | BEWO | testis | |||||||||
chr5 | 64781617 | 64781617 | G | C | rs245537 | N | 1.40801026394e-09 | 0.611821 | intergenic | ||||||||||||||
chr5 | 6868116 | 6868144 | ATGTGTGTGTGTGTGTGTGTGTGTGTGGC | ATGTGTGTGTGTGTGTGTGTGTGTGGC | N | 0.00119325821288 | intergenic | ||||||||||||||||
chr5 | 74400516 | 74400516 | G | C | rs56174528 | N | 7.62652052799e-05 | 0.133586 | D | N | nonsynonymous SNV | ANKRD31 | NM_001164443 | 21 | 4697 | 1566 | T=>R | AN3-CA | testis | ||||
chr5 | 74685520 | 74685520 | A | G | rs3761743 | N | 4.18672925662e-07 | 0.388379 | intronic | COL4A3BP | collagen, type IV, alpha 3 (Goodpasture antigen) binding protein | WM-115 | thyroid gland | ||||||||||
chr5 | 74921686 | 74921686 | G | A | rs9332464 | N | 0.000397078925744 | 0.324681 | N | nonsynonymous SNV | ANKDD1B | NM_001276713 | 5 | 506 | 169 | S=>N | ankyrin repeat and death domain containing 1B | RPMI-8226 | colon | ||||
chr5 | 75008193 | 75008193 | T | C | rs2047059 | N | 0.00229600258172 | 0.299121 | intronic | POC5 | POC5 centriolar protein homolog (Chlamydomonas) | U-266/84 | testis | ||||||||||
chr5 | 79950781 | 79950781 | A | G | rs1650697 | N | 0.486632794142 | 0.76857 | N | N | N | D | nonsynonymous SNV | MSH3 | NM_002439 | 1 | 235 | 79 | I=>V | mutS homolog 3 (E. coli) | RH-30 | kidney | |
chr5 | 82135819 | 82135851 | TAAAAAAAAATCAAAAAAAAAAAAACAAGGAGT | TAAAAAAAAATCCAAAAAAAAAAAAACAAGGAGT | N | 0.0151489442214 | upstream | MIR3977 | |||||||||||||||
chr5 | 84726623 | 84726623 | T | C | rs247681 | N | 5.4522655546e-07 | 0.615016 | intergenic | ||||||||||||||
chr5 | 95019519 | 95019519 | A | G | rs40098 | N | 4.16790641111e-07 | 0.568091 | upstream | SPATA9 | spermatogenesis associated 9 | HEL | testis | ||||||||||
chr5 | 96086334 | 96086334 | G | C | rs754615 | N | 9.23156112549e-05 | 0.29373 | N | N | N | N | nonsynonymous SNV | CAST | NM_173060 NM_001042440 NM_001190442 | 17,18,19 | 1157,1349,1184 | 386,450,395 | C=>S,C=>S,C=>S | calpastatin | HaCaT | esophagus | |
chr6 | 100024561 | 100024561 | A | C | rs330854 | N | 1.55620538678e-09 | 0.934305 | intergenic | ||||||||||||||
chr6 | 10214063 | 10214086 | CTTTTTTTTTTTTTTTTTACAGTC | CTTTTTTTTTTTTTTACAGTC | N | 0.0418422929943 | intergenic | ||||||||||||||||
chr6 | 108279546 | 108279546 | T | G | rs6903090 | N | 0.308840036392 | 0.968051 | upstream | SEC63 | SEC63-like (S. cerevisiae) | Karpas-707 | salivary gland | ||||||||||
chr6 | 110797905 | 110797905 | G | C | rs6922017 | N | 1.80167447184e-07 | 0.729633 | upstream | SLC22A16 | solute carrier family 22 (organic cation transporter), member 16 | THP-1 | testis | ||||||||||
chr6 | 110797945 | 110797954 | TCCCCCCAAG | TCCCCCCCAAG | N | 0.107334449887 | upstream | SLC22A16 | solute carrier family 22 (organic cation transporter), member 16 | THP-1 | testis | ||||||||||||
chr6 | 110797994 | 110798001 | GGCGCGCT | GGCGCT | N | 0.28294596076 | upstream | SLC22A16 | solute carrier family 22 (organic cation transporter), member 16 | THP-1 | testis | ||||||||||||
chr6 | 110798019 | 110798019 | G | A | rs11153237 | N | 3.37982122289e-08 | 0.729233 | upstream | SLC22A16 | solute carrier family 22 (organic cation transporter), member 16 | THP-1 | testis | ||||||||||
chr6 | 110884412 | 110884412 | G | A | rs2817790 | N | 1.90429815916e-07 | 0.795128 | intergenic | ||||||||||||||
chr6 | 114178831 | 114178844 | CGCTGCTGCTGCTC | CGCTGCTGCTGCTGCTC | N | 0.344451993704 | 5-UTR | MARCKS | NM_002356 | myristoylated alanine rich protein kinase C substrate | |||||||||||||
chr6 | 114178831 | 114178844 | CGCTGCTGCTGCTC | TGCTGCTGCTGCTC | N | 0.258241504431 | 5-UTR | MARCKS | NM_002356 | myristoylated alanine rich protein kinase C substrate | |||||||||||||
chr6 | 116572828 | 116572828 | A | G | rs1204833 | N | 0.0020053058397 | 0.878794 | 3-UTR | TSPYL4 | NM_021648 | TSPY-like 4 | SCLC-21H | cerebral cortex | |||||||||
chr6 | 119256348 | 119256348 | T | C | rs62422269 | N | 0.486632794142 | 0.602236 | upstream | MCM9 | minichromosome maintenance complex component 9 | THP-1 | lymph node | ||||||||||
chr6 | 119256391 | 119256391 | G | A | rs62422270 | N | 0.366031259298 | 0.602236 | upstream | MCM9 | minichromosome maintenance complex component 9 | THP-1 | lymph node | ||||||||||
chr6 | 123103476 | 123103476 | A | G | rs7752838 | N | 2.71528612927e-08 | 0.642772 | 3-UTR | FABP7 | NM_001319039 NM_001319041 | WM-115 | cerebral cortex | ||||||||||
chr6 | 129837680 | 129837693 | AAATAATATTAAAC | AAATATTAAAC | N | 0.230446219444 | 3-UTR | LAMA2 | NM_000426 NM_001079823 | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT | laminin, alpha 2 | U-138-MG | placenta | ||||||||||
chr6 | 131158670 | 131158670 | C | T | rs955191 | N | 1.40074305932e-07 | 0.802516 | downstream | SMLR1 | Hep-G2 | liver | |||||||||||
chr6 | 13364549 | 13364549 | T | A | rs553948 | N | 2.13384591916e-05 | 0.441893 | 3-UTR | GFOD1 | NM_001242630 NM_001242628 NM_018988 | glucose-fructose oxidoreductase domain containing 1 | HMC-1 | bone marrow | |||||||||
chr6 | 142468271 | 142468271 | G | T | rs639658 | N | 0.486632794142 | 0.263978 | upstream | NMBR VTA1 | |||||||||||||
chr6 | 153324156 | 153324156 | G | A | rs3818130 | N | 0.0140181193128 | 0.767971 | upstream | MTRF1L | mitochondrial translational release factor 1-like | U-251-MG | bone marrow | ||||||||||
chr6 | 159947024 | 159947047 | GTTTTTTTTTTTTTTTTTACAACC | GTTTTTTTTTTTTTTTACAACC | N | 0.0564181283116 | intergenic | ||||||||||||||||
chr6 | 159947024 | 159947047 | GTTTTTTTTTTTTTTTTTACAACC | GTTTTTTTTTTTTTTTTACAACC | N | 0.0564181283116 | intergenic | ||||||||||||||||
chr6 | 160180691 | 160180693 | GCT | GACT | D | 0.501634120941 | intronic | SOD2 | superoxide dismutase 2, mitochondrial | U-87-MG | appendix | ||||||||||||
chr6 | 1605548 | 1605548 | G | T | rs188892640 | N | 2.51614684643e-09 | 0.00479233 | upstream | FOXCUT | |||||||||||||
chr6 | 166657699 | 166657699 | C | T | rs4710029 | N | 2.18057017755e-12 | 0.887979 | ncRNA | LOC101929297 | |||||||||||||
chr6 | 166796832 | 166796832 | C | G | rs9295338 | N | 0.0134881194681 | 0.689896 | upstream | MPC1 | NB-4 | heart muscle | |||||||||||
chr6 | 166796911 | 166796911 | C | T | rs1546853 | N | 0.0288785491139 | 0.689896 | upstream | MPC1 | NB-4 | heart muscle | |||||||||||
chr6 | 166799165 | 166799165 | T | C | rs3757194 | N | 0.000127750405227 | 0.689896 | intergenic | ||||||||||||||
chr6 | 167276041 | 167276041 | A | G | rs4710127 | N | 3.57772783532e-28 | 0.854633 | upstream | RPS6KA2 | ribosomal protein S6 kinase, polypeptide 2 | U-2197 | heart muscle | ||||||||||
chr6 | 167370211 | 167370211 | A | C | rs2247315 | N | 0.255698919296 | 0.549321 | upstream | RNASET2 | THP-1 | spleen | |||||||||||
chr6 | 167370532 | 167370532 | C | G | rs2757041 | N | 0.00970804598182 | 0.539936 | upstream | RNASET2 | THP-1 | spleen | |||||||||||
chr6 | 168480713 | 168480713 | C | A | rs13192116 | N | 5.24951758507e-07 | 0.730032 | upstream | FRMD1 | RPMI-8226 | colon | |||||||||||
chr6 | 169575068 | 169575068 | T | G | rs117854773 | N | 2.4199620384e-05 | 0.480831 | downstream | LOC101929504 | |||||||||||||
chr6 | 170475495 | 170475495 | A | G | rs3012401 | N | 2.43173320022e-13 | 0.894968 | upstream | LOC102724511 | |||||||||||||
chr6 | 170475812 | 170475812 | T | C | rs2935054 | N | 6.56473321214e-06 | 0.881789 | upstream | LOC102724511 | |||||||||||||
chr6 | 24448061 | 24448061 | A | C | rs796985 | N | 5.45460261492e-06 | 0.563698 | intronic | GPLD1 | glycosylphosphatidylinositol specific phospholipase D1 | U-698 | liver | ||||||||||
chr6 | 25776949 | 25776949 | G | A | rs11754288 | N | 0.000250143319136 | 0.259984 | N | N | N | N | nonsynonymous SNV | SLC17A4 | NM_001286121 NM_005495 | 10,9 | 17,952,318,17,1114,372 | 318,372 | A=>T,A=>T | solute carrier family 17 (sodium phosphate), member 4 | A-549 | small intestine | |
chr6 | 26104071 | 26104090 | GAAAAAAAAAAAAAACCGCG | GAAAAAAAAAAAAAAACCGCG | N | 0.486632794142 | upstream | HIST1H4C | histone cluster 1, H4c | HEK-293 | bone marrow | ||||||||||||
chr6 | 26184102 | 26184102 | G | A | rs7766641 | N | 0.486632794142 | 0.352835 | nonsynonymous SNV | HIST1H2BE | NM_003523 | 1 | 79 | 27 | G=>S | ||||||||
chr6 | 26271713 | 26271713 | A | T | rs9393690 | N | 0.486632794142 | 0.611422 | upstream | HIST1H3G | |||||||||||||
chr6 | 26272829 | 26272829 | T | C | rs9393691 | N | 0.0436232089996 | 0.478634 | upstream | HIST1H2BI | |||||||||||||
chr6 | 26322473 | 26322473 | G | A | rs9358924 | N | 0.198345348239 | 0.376797 | intergenic | ||||||||||||||
chr6 | 26501471 | 26501477 | AGGGGAC | AGGGAC | D | 0.997916162014 | upstream | BTN1A1 | butyrophilin, subfamily 1, member A1 | CACO-2 | lymph node | ||||||||||||
chr6 | 26509330 | 26509330 | C | G | rs9393728 | N | 7.38368180464e-06 | 0.56889 | N | N | N | N | nonsynonymous SNV | BTN1A1 | NM_001732 | 7 | 1509 | 503 | D=>E | butyrophilin, subfamily 1, member A1 | CACO-2 | lymph node | |
chr6 | 26520767 | 26520767 | G | C | rs1535275 | N | 0.486632794142 | 0.853834 | intergenic | ||||||||||||||
chr6 | 29581011 | 29581011 | T | G | rs29226 | N | 0.0206439513713 | 0.108826 | intronic | GABBR1 | gamma-aminobutyric acid (GABA) B receptor, 1 | TIME | cerebral cortex | ||||||||||
chr6 | 29581110 | 29581113 | ACCA | GCCG | N | 0.00115215114783 | nonframeshift substitution | GABBR1 | NM_021904 NM_001470 NM_021903 | 11,12,7 | 1287,1473,1122 | gamma-aminobutyric acid (GABA) B receptor, 1 | TIME | cerebral cortex | |||||||||
chr6 | 29648991 | 29648994 | ATGT | ATGTGT | N | 0.100417539477 | intergenic | ||||||||||||||||
chr6 | 2971566 | 2971566 | G | T | rs9405600 | N | 0.0177367795259 | 0.232827 | 5-UTR | SERPINB6 | NM_001297699 | U-2197 | small intestine | ||||||||||
chr6 | 29718329 | 29718346 | ATTTTTTTTTTTTTAACC | ATTTTTTTTTTTAACC | N | 0.0125827267766 | downstream | IFITM4P | |||||||||||||||
chr6 | 29718355 | 29718355 | A | C | rs909729 | N | 7.56501435717e-07 | 0.605431 | downstream | IFITM4P | |||||||||||||
chr6 | 29718383 | 29718383 | G | A | rs1610733 | N | 3.00456213154e-05 | 0.605431 | downstream | IFITM4P | |||||||||||||
chr6 | 29718401 | 29718401 | C | G | rs1610734 | N | 1.86446159205e-05 | 0.605032 | downstream | IFITM4P | |||||||||||||
chr6 | 29718544 | 29718544 | C | T | rs1610736 | N | 8.97931556665e-07 | 0.606629 | downstream | IFITM4P | |||||||||||||
chr6 | 29720480 | 29720480 | T | C | rs909723 | N | 1.6586331185e-05 | 0.870008 | intergenic | ||||||||||||||
chr6 | 29720604 | 29720604 | A | G | rs1610623 | N | 2.78933566733e-06 | 0.870008 | intergenic | ||||||||||||||
chr6 | 29730923 | 29730923 | C | A | rs1737068 | N | 1.44821878933e-08 | 0.869409 | intergenic | ||||||||||||||
chr6 | 29794658 | 29794658 | G | A | rs1632947 | N | 0.486632794142 | 0.543131 | upstream | HLA-G | SiHa | placenta | |||||||||||
chr6 | 29796234 | 29796238 | CAAGG | CAGG | N | 0.0973427668214 | intronic | HLA-G | SiHa | placenta | |||||||||||||
chr6 | 29796257 | 29796257 | C | T | rs1625035 | N | 3.97184294343e-06 | 0.598243 | intronic | HLA-G | SiHa | placenta | |||||||||||
chr6 | 29796306 | 29796306 | G | A | rs1624337 | N | 0.000754323031288 | 0.543131 | intronic | HLA-G | SiHa | placenta | |||||||||||
chr6 | 29798425 | 29798425 | G | T | rs915669 | N | 2.96636899293e-05 | 0.598043 | intronic | HLA-G | SiHa | placenta | |||||||||||
chr6 | 29798459 | 29798459 | C | G | rs915668 | N | 0.000145053272718 | 0.598043 | intronic | HLA-G | SiHa | placenta | |||||||||||
chr6 | 29798581 | 29798583 | GTC | GATTTGTTCATGCCTTC | D | 0.928954720497 | 3-UTR | HLA-G | NM_002127 | SiHa | placenta | ||||||||||||
chr6 | 29798610 | 29798610 | C | T | rs1707 | N | 7.04170497556e-06 | 0.90655 | 3-UTR | HLA-G | NM_002127 | SiHa | placenta | ||||||||||
chr6 | 29798617 | 29798617 | G | C | rs1710 | N | 0.000445763231255 | 0.597843 | 3-UTR | HLA-G | NM_002127 | SiHa | placenta | ||||||||||
chr6 | 29799746 | 29799746 | C | G | rs2517898 | N | 9.32221664698e-05 | 0.40635 | downstream | HLA-G | SiHa | placenta | |||||||||||
chr6 | 29854569 | 29854569 | C | T | rs2734950 | N | 1.65648498296e-06 | 0.378594 | upstream | HLA-H | |||||||||||||
chr6 | 29854628 | 29854628 | T | C | rs9259202 | N | 1.10834272316e-10 | 0.797724 | upstream | HLA-H | |||||||||||||
chr6 | 29857502 | 29857504 | ACG | CCA | N | 0.333522170782 | ncRNA | HLA-H | |||||||||||||||
chr6 | 29893040 | 29893040 | C | T | rs1610751 | N | 5.53875738676e-13 | 0.912141 | ncRNA | HCG4B | |||||||||||||
chr6 | 29893195 | 29893195 | A | G | rs1056241 | N | 1.0327394051e-08 | 0.550319 | ncRNA | HCG4B | |||||||||||||
chr6 | 29893293 | 29893293 | G | A | rs1056242 | N | 0.000295564037515 | 0.538139 | ncRNA | HCG4B | |||||||||||||
chr6 | 29895529 | 29895529 | C | T | rs2517761 | N | 7.12411392101e-08 | 0.795727 | upstream | HCG4B | |||||||||||||
chr6 | 29895682 | 29895682 | A | G | rs1632904 | N | 2.33569281249e-07 | 0.795527 | upstream | HCG4B | |||||||||||||
chr6 | 29895697 | 29895697 | T | C | rs2471866 | N | 3.280803503e-05 | 0.523363 | upstream | HCG4B | |||||||||||||
chr6 | 29895816 | 29895816 | A | T | rs2517760 | N | 2.67816027133e-08 | 0.795927 | upstream | HCG4B | |||||||||||||
chr6 | 29895830 | 29895833 | CTCT | ACCC | N | 0.0144581357017 | upstream | HCG4B | |||||||||||||||
chr6 | 29895830 | 29895833 | CTCT | CCCC | N | 0.0144581357017 | upstream | HCG4B | |||||||||||||||
chr6 | 29895838 | 29895840 | CAG | CCAAG | N | 0.313219249249 | upstream | HCG4B | |||||||||||||||
chr6 | 29895838 | 29895840 | CAG | CCGGCAAG | N | 0.313219249249 | upstream | HCG4B | |||||||||||||||
chr6 | 29897379 | 29897379 | G | C | rs2517747 | N | 0.00554993050173 | 0.54992 | intergenic | ||||||||||||||
chr6 | 29910558 | 29910562 | TCACA | ACACC | N | 1.17218642117e-05 | nonframeshift substitution | HLA-A | NM_001242758 NM_002116 | 2,2 | 98,98 | SK-MEL-30 | spleen | ||||||||||
chr6 | 29911228 | 29911228 | A | C | rs9256983 | N | 7.83994721587e-07 | 0.189497 | N | N | N | N | nonsynonymous SNV | HLA-A | NM_001242758 NM_002116 | 3,3 | 527,527 | 176,176 | E=>A,E=>A | SK-MEL-30 | spleen | ||
chr6 | 29913542 | 29913542 | T | G | rs2499 | N | 0.000171410298208 | 0.925719 | 3-UTR | HLA-A | NM_001242758 NM_002116 | SK-MEL-30 | spleen | ||||||||||
chr6 | 29913727 | 29913727 | T | C | rs2571382 | N | 1.55542650759e-07 | 0.870208 | downstream | HLA-A | SK-MEL-30 | spleen | |||||||||||
chr6 | 29913734 | 29913734 | C | T | rs2975051 | N | 0.00671107461676 | 0.297524 | downstream | HLA-A | SK-MEL-30 | spleen | |||||||||||
chr6 | 29926379 | 29926379 | T | C | rs2975039 | N | 0.0426525957882 | 0.151957 | intergenic | ||||||||||||||
chr6 | 29940488 | 29940488 | T | C | rs5009448 | N | 4.73106047139e-06 | 0.732628 | intergenic | ||||||||||||||
chr6 | 30131546 | 30131546 | A | G | rs17194460 | N | 8.43782627726e-15 | 0.238618 | N | N | N | N | nonsynonymous SNV | TRIM15 | NM_033229 | 1 | 85 | 29 | I=>V | tripartite motif-containing 15 | HEL | duodenum | |
chr6 | 30882513 | 30882513 | A | G | rs1264303 | N | 0.0235457178205 | 0.222045 | intronic | VARS2 | valyl-tRNA synthetase 2, mitochondrial (putative) | Hep-G2 | cerebral cortex | ||||||||||
chr6 | 30883920 | 30883920 | C | T | rs1264299 | N | 1.09898373921e-05 | 0.222045 | intronic | VARS2 | valyl-tRNA synthetase 2, mitochondrial (putative) | Hep-G2 | cerebral cortex | ||||||||||
chr6 | 30887344 | 30887344 | T | C | rs7738138 | N | 0.0019518713234 | 0.222644 | intronic | VARS2 | valyl-tRNA synthetase 2, mitochondrial (putative) | Hep-G2 | cerebral cortex | ||||||||||
chr6 | 30890483 | 30890483 | G | T | rs2074506 | N | 2.61278510152e-05 | 0.222045 | N | P | N | N | nonsynonymous SNV | VARS2 | NM_020442 NM_001167733 NM_001167734 | 22,21,22 | 2038,1618,2128 | 680,540,710 | V=>L,V=>L,V=>L | valyl-tRNA synthetase 2, mitochondrial (putative) | Hep-G2 | cerebral cortex | |
chr6 | 30890871 | 30890871 | T | C | rs753725 | N | 3.12101547024e-05 | 0.615815 | intronic | VARS2 | valyl-tRNA synthetase 2, mitochondrial (putative) | Hep-G2 | cerebral cortex | ||||||||||
chr6 | 30918400 | 30918400 | A | G | rs2844699 | N | 1.06518882603e-08 | 0.221845 | N | N | N | nonsynonymous SNV | DPCR1 | NM_080870 | 2 | 2159 | 720 | E=>G | diffuse panbronchiolitis critical region 1 (human) | NTERA-2 | stomach | ||
chr6 | 30920890 | 30920890 | G | A | rs2240804 | N | 1.13451360448e-05 | 0.18151 | N | N | N | nonsynonymous SNV | DPCR1 | NM_080870 | 3 | 4178 | 1393 | R=>Q | diffuse panbronchiolitis critical region 1 (human) | NTERA-2 | stomach | ||
chr6 | 30954245 | 30954245 | T | C | rs1634730 | N | 9.39663724608e-09 | 0.710663 | N | N | N | N | nonsynonymous SNV | MUC21 | NM_001010909 | 2 | 293 | 98 | V=>A | Karpas-707 | esophagus | ||
chr6 | 30954873 | 30954873 | G | A | rs1625781 | N | 2.90853822662e-05 | 0.141174 | synonymous SNV | MUC21 | NM_001010909 | 2 | 921,307 | 307 | T=>T | Karpas-707 | esophagus | ||||||
chr6 | 30993813 | 30993813 | G | A | rs62399429 | N | 2.12854520214e-05 | 0.103035 | N | N | nonsynonymous SNV | MUC22 | NM_001198815 | 3 | 605 | 202 | S=>N | A-431 | esophagus | ||||
chr6 | 30993866 | 30993866 | A | T | rs62399430 | N | 3.41483755619e-05 | 0.0974441 | N | N | nonsynonymous SNV | MUC22 | NM_001198815 | 3 | 658 | 220 | T=>S | A-431 | esophagus | ||||
chr6 | 30993880 | 30993880 | G | C | rs62399431 | N | 1.4403834939e-05 | 0.100639 | D | N | nonsynonymous SNV | MUC22 | NM_001198815 | 3 | 672 | 224 | E=>D | A-431 | esophagus | ||||
chr6 | 30995178 | 30995178 | C | T | rs111413526 | N | 1.81178929779e-05 | 0.0920527 | D | N | nonsynonymous SNV | MUC22 | NM_001198815 | 3 | 1970 | 657 | T=>I | A-431 | esophagus | ||||
chr6 | 30995187 | 30995187 | T | C | rs62399443 | N | 4.15837675973e-05 | 0.0920527 | N | N | nonsynonymous SNV | MUC22 | NM_001198815 | 3 | 1979 | 660 | I=>T | A-431 | esophagus | ||||
chr6 | 30995297 | 30995297 | A | G | rs62401664 | N | 1.10492019303e-05 | 0.0920527 | N | N | nonsynonymous SNV | MUC22 | NM_001198815 | 3 | 2089 | 697 | I=>V | A-431 | esophagus | ||||
chr6 | 30995532 | 30995532 | T | C | rs62401665 | N | 0.000245991628617 | 0.0920527 | N | N | nonsynonymous SNV | MUC22 | NM_001198815 | 3 | 2324 | 775 | M=>T | A-431 | esophagus | ||||
chr6 | 30996132 | 30996132 | C | T | rs12665700 | N | 3.79561570298e-05 | 0.0922524 | D | N | nonsynonymous SNV | MUC22 | NM_001198815 | 3 | 2924 | 975 | T=>I | A-431 | esophagus | ||||
chr6 | 30996509 | 30996509 | G | A | rs35464561 | N | 1.17327463158e-05 | 0.0908546 | N | N | nonsynonymous SNV | MUC22 | NM_001198815 | 3 | 3301 | 1101 | E=>K | A-431 | esophagus | ||||
chr6 | 30997078 | 30997079 | TG | CA | N | 0.00014533031208 | nonframeshift substitution | MUC22 | NM_001198815 | 3 | 3870 | A-431 | esophagus | ||||||||||
chr6 | 30997078 | 30997079 | TG | CG | N | 0.00014533031208 | nonframeshift substitution | MUC22 | NM_001198815 | 3 | 3870 | A-431 | esophagus | ||||||||||
chr6 | 30997334 | 30997334 | A | G | rs11756038 | N | 3.73429284082e-05 | 0.091254 | N | N | nonsynonymous SNV | MUC22 | NM_001198815 | 3 | 4126,1376 | 1376 | T=>A | A-431 | esophagus | ||||
chr6 | 30997352 | 30997352 | A | G | rs11756039 | N | 3.68313776562e-05 | 0.102436 | N | N | nonsynonymous SNV | MUC22 | NM_001198815 | 3 | 4144 | 1382 | S=>G | A-431 | esophagus | ||||
chr6 | 30999997 | 30999997 | T | C | rs10947121 | N | 4.26226665073e-10 | 0.453075 | N | N | nonsynonymous SNV | MUC22 | NM_001198815 | 4 | 4694 | 1565 | L=>P | A-431 | esophagus | ||||
chr6 | 31080471 | 31080471 | T | C | rs1265052 | N | 8.0930523394e-10 | 0.548522 | upstream | C6orf15 | RH-30 | skin | |||||||||||
chr6 | 31113275 | 31113276 | AG | GA | N | 0.0247329194099 | intronic | CCHCR1 | coiled-coil alpha-helical rod protein 1 | REH | testis | ||||||||||||
chr6 | 31116246 | 31116246 | G | A | rs130068 | N | 4.41542351837e-06 | 0.409944 | N | N | N | N | nonsynonymous SNV | CCHCR1 | NM_001105564 NM_001105563 NM_019052 | 10,10,10 | 1516,1408,1249 | 506,470,417 | R=>W,R=>W,R=>W | coiled-coil alpha-helical rod protein 1 | REH | testis | |
chr6 | 31125067 | 31125072 | CAACTA | CAACTAACTA | N | 0.254279106855 | intronic | CCHCR1 | coiled-coil alpha-helical rod protein 1 | REH | testis | ||||||||||||
chr6 | 31129616 | 31129616 | A | G | rs2073721 | N | 6.53752330049e-10 | 0.769169 | N | N | N | N | nonsynonymous SNV | TCF19 | NM_007109 NM_001077511 | 3,3 | 631,631 | 211,211 | M=>V,M=>V | transcription factor 19 | U-138-MG | lymph node | |
chr6 | 31130502 | 31130502 | T | C | rs1065461 | N | 4.02589239723e-10 | 0.769169 | 3-UTR | TCF19 | NM_001318908 NM_001077511 NM_007109 | transcription factor 19 | U-138-MG | lymph node | |||||||||
chr6 | 31134721 | 31134725 | ACTCA | ACTCCTCA | N | 0.238150641322 | 5-UTR | POU5F1 | NM_203289 NM_001285986 NM_001173531 NM_001285987 | NTERA-2 | small intestine | ||||||||||||
chr6 | 31134888 | 31134888 | T | C | rs3130931 | N | 2.70495803534e-08 | 0.723642 | 5-UTR | POU5F1 | NM_203289 NM_001285986 NM_001173531 NM_001285987 | NTERA-2 | small intestine | ||||||||||
chr6 | 31165566 | 31165566 | T | C | rs3094609 | N | 0.486632794142 | 0.895367 | ncRNA | HCG27 | Karpas-707 | spleen | |||||||||||
chr6 | 31170227 | 31170228 | AG | AC | N | 1.1164956959e-08 | ncRNA | HCG27 | Karpas-707 | spleen | |||||||||||||
chr6 | 31170227 | 31170228 | AG | GC | N | 1.1164956959e-08 | ncRNA | HCG27 | Karpas-707 | spleen | |||||||||||||
chr6 | 31170713 | 31170713 | T | C | rs9263873 | N | 0.0250555370003 | 0.467452 | ncRNA | HCG27 | Karpas-707 | spleen | |||||||||||
chr6 | 31236715 | 31236723 | GCCCCACCT | GCCCACTT | D | 0.930214464664 | 3-UTR | HLA-C | NM_001243042 NM_002117 | HDLM-2 | lung | ||||||||||||
chr6 | 31237987 | 31237991 | CCCAG | CCCAT | N | 0.00385118694976 | nonframeshift substitution | HLA-C | NM_002117 NM_001243042 | 4,4 | 891,891 | HDLM-2 | lung | ||||||||||
chr6 | 31237987 | 31237991 | CCCAG | TCCAT | N | 0.00385118694976 | nonframeshift substitution | HLA-C | NM_002117 NM_001243042 | 4,4 | 891,891 | HDLM-2 | lung | ||||||||||
chr6 | 31238027 | 31238029 | CAT | AAC | N | 0.00818398781121 | nonframeshift substitution | HLA-C | NM_002117 NM_001243042 | 4,4 | 853,853 | HDLM-2 | lung | ||||||||||
chr6 | 31238027 | 31238029 | CAT | CAC | N | 0.00818398781121 | nonframeshift substitution | HLA-C | NM_002117 NM_001243042 | 4,4 | 853,853 | HDLM-2 | lung | ||||||||||
chr6 | 31238053 | 31238053 | G | C | rs707908 | N | 6.93671381669e-07 | N | N | N | N | nonsynonymous SNV | HLA-C | NM_002117 NM_001243042 | 4,4 | 829,829 | 277,277 | Q=>E,Q=>E | HDLM-2 | lung | |||
chr6 | 31238942 | 31238942 | G | T | rs2308590 | N | 6.80762314005e-05 | 0.429113 | N | N | N | N | nonsynonymous SNV | HLA-C | NM_002117 NM_001243042 | 3,3 | 527,527 | 176,176 | A=>E,A=>E | HDLM-2 | lung | ||
chr6 | 31239049 | 31239050 | GG | GA | N | 0.0899172201753 | nonframeshift substitution | HLA-C | NM_002117 NM_001243042 | 3,3 | 419,419 | HDLM-2 | lung | ||||||||||
chr6 | 31239049 | 31239050 | GG | TA | N | 0.0899172201753 | nonframeshift substitution | HLA-C | NM_002117 NM_001243042 | 3,3 | 419,419 | HDLM-2 | lung | ||||||||||
chr6 | 31239616 | 31239622 | CGGTGTC | ATGTGGA | N | 0.000803456758149 | nonframeshift substitution | HLA-C | NM_002117 NM_001243042 | 2,2 | 97,97 | HDLM-2 | lung | ||||||||||
chr6 | 31239616 | 31239622 | CGGTGTC | CGGTGTA | N | 0.000803456758149 | nonframeshift substitution | HLA-C | NM_002117 NM_001243042 | 2,2 | 97,97 | HDLM-2 | lung | ||||||||||
chr6 | 31239827 | 31239827 | C | T | rs2308525 | N | 0.00196287850849 | 0.753195 | N | N | N | N | nonsynonymous SNV | HLA-C | NM_002117 NM_001243042 | 1,1 | 22,8,22,8 | 8,8 | A=>T,A=>T | HDLM-2 | lung | ||
chr6 | 31240010 | 31240014 | GAGAA | GAGAAGAA | N | 0.228147894144 | upstream | HLA-C | HDLM-2 | lung | |||||||||||||
chr6 | 31240060 | 31240060 | A | G | rs2844622 | N | 0.0130429985002 | 0.753594 | upstream | HLA-C | HDLM-2 | lung | |||||||||||
chr6 | 31254485 | 31254485 | T | C | rs58860177 | N | 0.0119614079595 | 0.0764776 | intergenic | ||||||||||||||
chr6 | 31276447 | 31276447 | G | C | rs1005599 | N | 4.87518933643e-13 | 0.898363 | intergenic | ||||||||||||||
chr6 | 31321360 | 31321360 | A | G | rs2844585 | N | 2.96474809147e-07 | 0.902756 | downstream | HLA-B | U-266/70 | spleen | |||||||||||
chr6 | 31322026 | 31322026 | C | A | rs1054111 | N | 8.77538550412e-05 | 0.270367 | 3-UTR | HLA-B | NM_005514 | U-266/70 | spleen | ||||||||||
chr6 | 31322303 | 31322303 | C | G | rs2308655 | N | 1.39594293156e-12 | 0.592252 | N | N | N | N | exonic | HLA-B | U-266/70 | spleen | |||||||
chr6 | 31323409 | 31323409 | T | C | rs2523605 | N | 2.20964782881e-19 | 0.872604 | intronic | HLA-B | U-266/70 | spleen | |||||||||||
chr6 | 31323468 | 31323468 | G | T | rs3897530 | N | 6.31424871157e-13 | 0.288738 | intronic | HLA-B | U-266/70 | spleen | |||||||||||
chr6 | 31323766 | 31323766 | T | C | rs2523604 | N | 9.37971034176e-10 | 0.872204 | intronic | HLA-B | U-266/70 | spleen | |||||||||||
chr6 | 31323776 | 31323778 | TCT | TCCT | N | 0.0151729155332 | intronic | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31323953 | 31323953 | C | G | rs1131285 | N | 1.34345455649e-07 | 0.810903 | N | N | N | N | exonic | HLA-B | U-266/70 | spleen | |||||||
chr6 | 31323958 | 31323960 | TTG | GTC | N | 0.00847094506025 | exonic | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31324003 | 31324004 | TC | AG | N | 1.12905276239e-07 | exonic | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31324003 | 31324004 | TC | GT | N | 1.12905276239e-07 | exonic | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31324200 | 31324201 | GC | CC | N | 0.00351198413409 | exonic | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31324200 | 31324201 | GC | CG | N | 0.00351198413409 | exonic | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31324206 | 31324209 | GAGG | CCAA | N | 0.00137298193295 | exonic | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31324206 | 31324209 | GAGG | GATG | N | 0.00137298193295 | exonic | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31324243 | 31324245 | CCA | ACC | N | 0.000265091250185 | intronic | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31324243 | 31324245 | CCA | CCC | N | 0.000265091250185 | intronic | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31324516 | 31324516 | C | A | rs1131215 | N | 4.48589817097e-05 | 0.703874 | N | D | D | N | exonic | HLA-B | U-266/70 | spleen | |||||||
chr6 | 31324602 | 31324604 | TCT | GTC | N | 0.0909385681152 | exonic | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31324666 | 31324667 | AG | CA | N | 2.48757532972e-05 | exonic | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31324666 | 31324667 | AG | CG | N | 2.48757532972e-05 | exonic | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31324702 | 31324705 | CGGA | TGGC | N | 1.70814136169e-08 | exonic | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31324829 | 31324830 | GG | CA | N | 0.486632794142 | intronic | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31324851 | 31324857 | ACCCGCA | ACCCCGCA | N | 0.486632794142 | intronic | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31324887 | 31324895 | GGGCCGCCG | CTGCCCCCC | N | 0.486632794142 | exonic | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31324925 | 31324925 | A | G | rs1050458 | N | 0.0859244167805 | 0.792332 | N | N | N | N | exonic | HLA-B | U-266/70 | spleen | |||||||
chr6 | 31324931 | 31324931 | A | C | rs9266206 | N | 0.0342276208103 | 0.79393 | N | N | N | N | exonic | HLA-B | U-266/70 | spleen | |||||||
chr6 | 31324953 | 31324953 | C | T | rs9266207 | N | 0.0306664537638 | 0.766973 | 5-UTR | HLA-B | NM_005514 | U-266/70 | spleen | ||||||||||
chr6 | 31324996 | 31324996 | G | C | rs2596490 | N | 0.087538510561 | 0.759984 | 5-UTR | HLA-B | NM_005514 | U-266/70 | spleen | ||||||||||
chr6 | 31325004 | 31325004 | G | A | rs9266209 | N | 0.235529825091 | 0.664537 | 5-UTR | HLA-B | NM_005514 | U-266/70 | spleen | ||||||||||
chr6 | 31325028 | 31325030 | AAT | GAC | N | 0.486632794142 | upstream | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31325049 | 31325049 | G | A | rs9266214 | N | 0.173653736711 | 0.768171 | upstream | HLA-B | U-266/70 | spleen | |||||||||||
chr6 | 31325090 | 31325092 | CAA | TAG | N | 0.486632794142 | upstream | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31325115 | 31325116 | AG | GT | N | 0.263868689537 | upstream | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31325151 | 31325151 | T | A | rs9266221 | N | 0.0115042822435 | 0.6248 | upstream | HLA-B | U-266/70 | spleen | |||||||||||
chr6 | 31325193 | 31325193 | T | C | rs9266225 | N | 4.08079031331e-05 | 0.47524 | upstream | HLA-B | U-266/70 | spleen | |||||||||||
chr6 | 31325199 | 31325199 | A | G | rs9266226 | N | 8.54795143823e-06 | 0.47524 | upstream | HLA-B | U-266/70 | spleen | |||||||||||
chr6 | 31325235 | 31325239 | CAAGC | CAGC | N | 0.000429247767897 | upstream | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31325270 | 31325270 | G | C | rs9266227 | N | 9.9231609596e-09 | 0.691294 | upstream | HLA-B | U-266/70 | spleen | |||||||||||
chr6 | 31325320 | 31325323 | GCCC | CCCG | N | 2.25262596132e-07 | upstream | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31325341 | 31325341 | G | C | rs9266230 | N | 2.69308531031e-09 | 0.80012 | upstream | HLA-B | U-266/70 | spleen | |||||||||||
chr6 | 31325380 | 31325380 | C | T | rs9266231 | N | 3.7211226752e-16 | 0.800719 | upstream | HLA-B | U-266/70 | spleen | |||||||||||
chr6 | 31325403 | 31325405 | ACT | AT | N | 2.31521268823e-09 | upstream | HLA-B | U-266/70 | spleen | |||||||||||||
chr6 | 31325424 | 31325424 | G | T | rs9266232 | N | 2.93037202326e-17 | 0.800719 | upstream | HLA-B | U-266/70 | spleen | |||||||||||
chr6 | 31326082 | 31326083 | TC | CT | N | 7.25711359428e-17 | intergenic | ||||||||||||||||
chr6 | 31326131 | 31326131 | C | T | rs73390208 | N | 1.87676666607e-16 | 0.44988 | intergenic | ||||||||||||||
chr6 | 31342061 | 31342066 | CGGTTC | TGGTCT | N | 0.0891419127584 | intergenic | ||||||||||||||||
chr6 | 31346193 | 31346193 | G | A | rs2507982 | N | 4.01571553788e-10 | 0.891174 | intergenic | ||||||||||||||
chr6 | 31346247 | 31346247 | T | A | rs2507981 | N | 5.36014461983e-12 | 0.557708 | intergenic | ||||||||||||||
chr6 | 31349720 | 31349720 | C | T | rs9266715 | N | 1.77710832161e-11 | 0.772364 | intergenic | ||||||||||||||
chr6 | 31349727 | 31349727 | C | T | rs9266716 | N | 5.83887382888e-11 | 0.772165 | intergenic | ||||||||||||||
chr6 | 31349743 | 31349743 | A | G | rs9266717 | N | 2.92239392408e-11 | 0.75 | intergenic | ||||||||||||||
chr6 | 31349788 | 31349788 | C | T | rs9266718 | N | 1.88239468457e-09 | 0.75 | intergenic | ||||||||||||||
chr6 | 31349805 | 31349809 | CGGCA | AGGCG | N | 0.000134609988891 | intergenic | ||||||||||||||||
chr6 | 31349819 | 31349819 | C | A | rs9266721 | N | 2.91516499829e-09 | 0.574681 | intergenic | ||||||||||||||
chr6 | 31350090 | 31350090 | C | T | rs2596569 | N | 1.13452129635e-12 | 0.785543 | intergenic | ||||||||||||||
chr6 | 31350232 | 31350232 | A | G | rs2596568 | N | 9.8194848086e-11 | 0.785343 | intergenic | ||||||||||||||
chr6 | 31350328 | 31350328 | A | G | rs2507979 | N | 2.53002108153e-09 | 0.785543 | intergenic | ||||||||||||||
chr6 | 31380161 | 31380163 | GGC | GCTGC | D | 0.878867208958 | frameshift substitution | MICA | NM_001177519 NM_001289152 NM_001289153 NM_001289154 | 5,5,5,5 | 952,661,661,538 | U-251-MG | lung | ||||||||||
chr6 | 31380161 | 31380163 | GGC | GCTGCTGCTGCTGC | D | 0.878867208958 | frameshift substitution | MICA | NM_001177519 NM_001289152 NM_001289153 NM_001289154 | 5,5,5,5 | 952,661,661,538 | U-251-MG | lung | ||||||||||
chr6 | 31440415 | 31440415 | G | A | rs2516441 | N | 1.94431595446e-05 | 0.335663 | downstream | HCG26 | |||||||||||||
chr6 | 31465915 | 31465917 | GGG | CGT | N | 0.456648558378 | 5-UTR | MICB | NM_001289161 NM_005931 | U-266/84 | lymph node | ||||||||||||
chr6 | 31473844 | 31473844 | T | C | rs2286713 | N | 2.88602223009e-06 | 0.851238 | intronic | MICB | U-266/84 | lymph node | |||||||||||
chr6 | 31483752 | 31483752 | A | G | rs3131632 | N | 2.26507215761e-10 | 0.829673 | intergenic | ||||||||||||||
chr6 | 31484032 | 31484032 | T | C | rs3094001 | N | 1.48953416268e-09 | 0.878195 | intergenic | ||||||||||||||
chr6 | 31484054 | 31484054 | T | C | rs3094000 | N | 1.21570375988e-09 | 0.829473 | intergenic | ||||||||||||||
chr6 | 31488145 | 31488145 | A | G | rs3130637 | N | 8.17546641496e-10 | 0.814297 | intergenic | ||||||||||||||
chr6 | 31495523 | 31495525 | AAT | AAAAGGCAT | N | 0.124987080693 | intergenic | ||||||||||||||||
chr6 | 31496776 | 31496776 | T | G | rs3130054 | N | 2.05958561317e-09 | 0.883986 | 5-UTR | MCCD1 | NM_001011700 | Daudi | kidney | ||||||||||
chr6 | 31496915 | 31496915 | G | A | rs2259435 | N | 1.10784547758e-07 | 0.170927 | N | N | N | N | nonsynonymous SNV | MCCD1 | NM_001011700 | 1 | 124 | 42 | E=>K | Daudi | kidney | ||
chr6 | 31496925 | 31496925 | G | A | rs3093983 | N | 1.62344757863e-12 | 0.878794 | N | N | N | N | nonsynonymous SNV | MCCD1 | NM_001011700 | 1 | 134 | 45 | S=>N | Daudi | kidney | ||
chr6 | 31497835 | 31497835 | G | C | rs3115537 | N | 5.86348069191e-05 | 0.878994 | 3-UTR | MCCD1 | NM_001011700 | Daudi | kidney | ||||||||||
chr6 | 31502861 | 31502861 | A | G | rs3093976 | N | 4.81625420434e-06 | 0.879193 | ncRNA | ATP6V1G2-DDX39B | |||||||||||||
chr6 | 31508761 | 31508761 | C | T | rs2523508 | N | 0.00173603580333 | 0.878594 | ncRNA | ATP6V1G2-DDX39B | |||||||||||||
chr6 | 31510105 | 31510105 | A | G | rs2239528 | N | 0.486632794142 | 0.785343 | ncRNA | DDX39B-AS1 | |||||||||||||
chr6 | 31540141 | 31540141 | A | C | rs2239704 | N | 3.70614761103e-09 | 0.649561 | 5-UTR | LTA | NM_000595 | lymphotoxin A | HDLM-2 | lymph node | |||||||||
chr6 | 31540481 | 31540507 | GTCTCTCTCTCTCTCTCTCTTTCTCTG | GTCTCTCTCTCTCTCTCTCTCTTTCTCTG | D | 0.747808516026 | intronic | LTA | lymphotoxin A | HDLM-2 | lymph node | ||||||||||||
chr6 | 31542308 | 31542308 | T | C | rs1799964 | N | 0.153701469302 | 0.21905 | downstream | LTA | lymphotoxin A | HDLM-2 | lymph node | ||||||||||
chr6 | 31556581 | 31556581 | T | A | rs1052248 | N | 1.04835301329e-07 | 0.301717 | 3-UTR | LST1 | NM_205838 NM_205839 NM_205837 NM_001166538 NM_007161 NM_205840 | leukocyte specific transcript 1 | THP-1 | bone marrow | |||||||||
chr6 | 31583827 | 31583827 | T | G | rs2259571 | N | 0.000339551304933 | 0.354233 | 5-UTR | AIF1 | NM_032955 | allograft inflammatory factor 1 | NB-4 | spleen | |||||||||
chr6 | 31595882 | 31595882 | C | A | rs1046080 | N | 9.99556340475e-11 | 0.815495 | N | N | N | N | nonsynonymous SNV | PRRC2A | NM_080686 NM_004638 | 12,12 | 2,1631,2,1631 | 544,544 | T=>K,T=>K | proline-rich coiled-coil 2A | NB-4 | testis | |
chr6 | 31628733 | 31628733 | C | T | rs805262 | N | 0.0183449592441 | 0.382388 | upstream,downstream | C6orf47;GPANK1 | |||||||||||||
chr6 | 31637734 | 31637734 | A | T | rs5872 | N | 0.00158759241458 | 0.249002 | 3-UTR | CSNK2B | NM_001282385 NM_001320 | casein kinase 2, beta polypeptide | NB-4 | skin | |||||||||
chr6 | 31745284 | 31745284 | C | T | rs2736426 | N | 0.00261759874411 | 0.635383 | upstream,downstream | VWA7;VARS | |||||||||||||
chr6 | 31762843 | 31762844 | GG | CT | N | 0.00325003755279 | nonframeshift substitution | VARS | NM_006295 | 2 | 151 | valyl-tRNA synthetase | Karpas-707 | testis | |||||||||
chr6 | 31777946 | 31777946 | C | T | rs2075800 | N | 5.59397376492e-05 | 0.255192 | D | D | P | N | nonsynonymous SNV | HSPA1L | NM_005527 | 2 | 1804 | 602 | E=>K | heat shock protein 1-like | HEK-293 | testis | |
chr6 | 31839309 | 31839309 | C | T | rs2242665 | N | 0.486632794142 | 0.618411 | N | N | N | N | nonsynonymous SNV | SLC44A4 | NM_001178045 NM_001178044 NM_025257 | 8,7,8 | 44,331,44,433,44,559 | 111,145,187 | V=>I,V=>I,V=>I | solute carrier family 44, member 4 | CAPAN-2 | stomach | |
chr6 | 31861141 | 31861141 | A | T | rs2844457 | N | 9.21915707295e-05 | 0.329073 | 5-UTR | EHMT2 | NM_001318833 | euchromatic histone lysine N-methyltransferase 2 | NB-4 | ovary | |||||||||
chr6 | 31864547 | 31864547 | G | T | rs7887 | N | 0.000239587490796 | 0.329073 | N | N | N | N | nonsynonymous SNV | EHMT2 | NM_025256 NM_006709 NM_001289413 | 3,3,2 | 164,164,335 | 55,55,112 | T=>N,T=>N,T=>N | euchromatic histone lysine N-methyltransferase 2 | NB-4 | ovary | |
chr6 | 31904983 | 31905003 | CAAAAAAAAAAAAAAAATTGC | CAAAAAAAAAAAAAAATTGC | N | 0.0239724311978 | ncRNA | C2-AS1 | |||||||||||||||
chr6 | 31929014 | 31929014 | A | C | rs437179 | N | 2.05880503756e-08 | 0.816693 | N | N | N | N | nonsynonymous SNV | SKIV2L | NM_006929 | 8 | 640 | 214 | M=>L | superkiller viralicidic activity 2-like (S. cerevisiae) | HeLa | spleen | |
chr6 | 32006597 | 32006597 | C | T | rs6462 | N | 1.19855144476e-06 | 0.711462 | intronic | CYP21A2 | HDLM-2 | adrenal gland | |||||||||||
chr6 | 32026107 | 32026107 | C | T | rs1009382 | N | 3.03148999592e-06 | 0.696086 | N | N | N | N | nonsynonymous SNV | TNXB | NM_019105 | 22 | 7553 | 2518 | G=>E | tenascin XB | U-2197 | adrenal gland | |
chr6 | 32050067 | 32050067 | T | C | rs185819 | N | 7.73961588152e-08 | 0.586262 | N | N | N | N | nonsynonymous SNV | TNXB | NM_019105 | 9 | 3482 | 1161 | H=>R | tenascin XB | U-2197 | adrenal gland | |
chr6 | 32222706 | 32222706 | A | G | rs3115570 | N | 4.8317181367e-09 | 0.470048 | upstream | LOC101929163 | |||||||||||||
chr6 | 32427572 | 32427572 | C | G | rs9268830 | N | 0.0135277826339 | 0.253794 | intergenic | ||||||||||||||
chr6 | 32489671 | 32489672 | AC | GA | N | 7.7588178101e-05 | intronic | HLA-DRB5 | HDLM-2 | lung | |||||||||||||
chr6 | 32489734 | 32489735 | GG | AT | N | 0.00527250906453 | nonframeshift substitution | HLA-DRB5 | NM_002125 | 2 | 317 | HDLM-2 | lung | ||||||||||
chr6 | 32489744 | 32489744 | G | T | rs1059598 | N | 1.63387194334e-05 | N | N | N | N | nonsynonymous SNV | HLA-DRB5 | NM_002125 | 2 | 308 | 103 | A=>E | HDLM-2 | lung | |||
chr6 | 32489766 | 32489766 | A | G | rs41562819 | N | 5.6641312085e-08 | N | N | N | N | nonsynonymous SNV | HLA-DRB5 | NM_002125 | 2 | 286 | 96 | F=>L | HDLM-2 | lung | |||
chr6 | 32489813 | 32489813 | G | C | rs79606458 | N | 0.00717746652663 | D | D | D | N | nonsynonymous SNV | HLA-DRB5 | NM_002125 | 2 | 239 | 80 | T=>R | HDLM-2 | lung | |||
chr6 | 32489933 | 32489940 | TCCTGCTG | AGCAGCTC | N | 4.06193521485e-06 | nonframeshift substitution | HLA-DRB5 | NM_002125 | 2 | 112 | HDLM-2 | lung | ||||||||||
chr6 | 32497960 | 32497962 | CTT | AAC | N | 0.411585688591 | nonframeshift substitution | HLA-DRB5 | NM_002125 | 1 | 40 | HDLM-2 | lung | ||||||||||
chr6 | 32546626 | 32546626 | C | G | rs1064715 | N | 0.486632794142 | 3-UTR | HLA-DRB1 | NM_001243965 NM_002124 | HDLM-2 | lung | |||||||||||
chr6 | 32546743 | 32546743 | C | T | rs1064707 | N | 0.122919552028 | 0.704073 | 3-UTR | HLA-DRB1 | NM_001243965 NM_002124 | HDLM-2 | lung | ||||||||||
chr6 | 32546849 | 32546855 | GAATGTG | AAATT | N | 0.00256343721412 | 3-UTR | HLA-DRB1 | NM_001243965 NM_002124 | HDLM-2 | lung | ||||||||||||
chr6 | 32549607 | 32549611 | TAGGT | GAGGA | N | 0.0060053546913 | nonframeshift substitution | HLA-DRB1 | NM_002124 | 3 | 375 | HDLM-2 | lung | ||||||||||
chr6 | 32549607 | 32549611 | TAGGT | TAGGA | N | 0.0060053546913 | nonframeshift substitution | HLA-DRB1 | NM_002124 | 3 | 375 | HDLM-2 | lung | ||||||||||
chr6 | 32551991 | 32551999 | ACTCAGCGT | ACTCGGCAT | N | 3.76722482542e-06 | nonframeshift substitution | HLA-DRB1 | NM_002124 | 2 | 257 | HDLM-2 | lung | ||||||||||
chr6 | 32551991 | 32551999 | ACTCAGCGT | GCTCCGCAG | N | 3.76722482542e-06 | nonframeshift substitution | HLA-DRB1 | NM_002124 | 2 | 257 | HDLM-2 | lung | ||||||||||
chr6 | 32552056 | 32552059 | ACGG | ACGA | N | 2.12985531989e-11 | nonframeshift substitution | HLA-DRB1 | NM_002124 | 2 | 197 | HDLM-2 | lung | ||||||||||
chr6 | 32552056 | 32552059 | ACGG | GCGT | N | 2.12985531989e-11 | nonframeshift substitution | HLA-DRB1 | NM_002124 | 2 | 197 | HDLM-2 | lung | ||||||||||
chr6 | 32552075 | 32552075 | A | G | rs1064664 | N | 1.35379378606e-13 | 0.309505 | N | N | N | N | nonsynonymous SNV | HLA-DRB1 | NM_002124 | 2 | 181 | 61 | Y=>H | HDLM-2 | lung | ||
chr6 | 32557552 | 32557552 | A | C | rs1059546 | N | 0.435580611229 | 0.402157 | 5-UTR | HLA-DRB1 | NM_001243965 NM_002124 | HDLM-2 | lung | ||||||||||
chr6 | 32557552 | 32557552 | A | G | rs1059546 | N | 0.486632794142 | 0.294529 | 5-UTR | HLA-DRB1 | NM_001243965 NM_002124 | HDLM-2 | lung | ||||||||||
chr6 | 32709204 | 32709204 | G | C | rs9276401 | N | 1.22317516116e-08 | 0.17492 | 5-UTR | HLA-DQA2 | NM_020056 | HDLM-2 | lymph node | ||||||||||
chr6 | 32713188 | 32713188 | C | T | rs2213565 | N | 1.10326119795e-07 | 0.852436 | intronic | HLA-DQA2 | HDLM-2 | lymph node | |||||||||||
chr6 | 32781776 | 32781776 | C | A | rs2856997 | N | 6.91059369728e-08 | 0.506789 | intronic | HLA-DOB | Daudi | lymph node | |||||||||||
chr6 | 32784753 | 32784753 | T | C | rs2071470 | N | 1.50966548355e-30 | 0.308906 | 5-UTR | HLA-DOB | NM_002120 | Daudi | lymph node | ||||||||||
chr6 | 32796521 | 32796521 | C | T | rs17034 | N | 4.94654086651e-05 | 0.297724 | 3-UTR | TAP2 | NM_000544 NM_001290043 | transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) | HEL | lymph node | |||||||||
chr6 | 32797168 | 32797168 | G | A | rs241442 | N | 6.92783578415e-05 | 0.291534 | intronic | TAP2 | transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) | HEL | lymph node | ||||||||||
chr6 | 32797876 | 32797876 | A | G | rs241436 | N | 1.23426787013e-07 | 0.434305 | intronic | TAP2 | transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) | HEL | lymph node | ||||||||||
chr6 | 32904981 | 32904981 | G | A | rs1042337 | N | 2.45308894725e-12 | 0.784545 | N | N | N | N | nonsynonymous SNV | HLA-DMB | NM_002118 | 3 | 590 | 197 | T=>I | HDLM-2 | lymph node | ||
chr6 | 32948607 | 32948607 | C | T | rs1049414 | N | 2.01457588389e-08 | 0.684904 | 3-UTR | BRD2 | NM_005104 NM_001113182 NM_001291986 NM_001199455 NM_001199456 | bromodomain containing 2 | HEK-293 | bone marrow | |||||||||
chr6 | 33036287 | 33036288 | GG | AA | N | 0.0120911998674 | intronic | HLA-DPA1 | HDLM-2 | lymph node | |||||||||||||
chr6 | 33036312 | 33036312 | A | G | rs72879609 | N | 0.000144625417306 | 0.438898 | intronic | HLA-DPA1 | HDLM-2 | lymph node | |||||||||||
chr6 | 33036399 | 33036401 | CTC | CTTT | D | 0.980794966221 | intronic | HLA-DPA1 | HDLM-2 | lymph node | |||||||||||||
chr6 | 33036950 | 33036951 | CA | CG | D | 0.955665290356 | nonframeshift substitution | HLA-DPA1 | NM_033554 NM_001242524 NM_001242525 | 3,4,4 | 473,473,473 | HDLM-2 | lymph node | ||||||||||
chr6 | 33036950 | 33036951 | CA | TG | D | 0.955665290356 | nonframeshift substitution | HLA-DPA1 | NM_033554 NM_001242524 NM_001242525 | 3,4,4 | 473,473,473 | HDLM-2 | lymph node | ||||||||||
chr6 | 33037080 | 33037082 | GGA | AGG | N | 0.0410279072821 | intronic | HLA-DPA1 | HDLM-2 | lymph node | |||||||||||||
chr6 | 33037412 | 33037413 | GC | CA | N | 0.486632794142 | intronic | HLA-DPA1 | HDLM-2 | lymph node | |||||||||||||
chr6 | 33037424 | 33037424 | T | C | rs1126542 | N | 0.0248123537749 | 0.439097 | N | N | N | N | nonsynonymous SNV | HLA-DPA1 | NM_033554 NM_001242524 NM_001242525 | 2,3,3 | 340,114,340,114,340,114 | 114,114,114 | T=>A,T=>A,T=>A | HDLM-2 | lymph node | ||
chr6 | 33037579 | 33037580 | AT | TG | N | 0.407891154289 | nonframeshift substitution | HLA-DPA1 | NM_033554 NM_001242524 NM_001242525 | 2,3,3 | 184,184,184 | HDLM-2 | lymph node | ||||||||||
chr6 | 33048457 | 33048461 | CTTTT | GTGTA | N | 0.000498974637594 | nonframeshift substitution | HLA-DPB1 | NM_002121 | 2 | 109 | HDLM-2 | lymph node | ||||||||||
chr6 | 33048661 | 33048663 | ATG | GTA | N | 0.000387588632293 | nonframeshift substitution | HLA-DPB1 | NM_002121 | 2 | 313 | HDLM-2 | lymph node | ||||||||||
chr6 | 33048686 | 33048694 | GCGGGCCCA | ACGAGGCCG | N | 0.486632794142 | nonframeshift substitution | HLA-DPB1 | NM_002121 | 2 | 338 | HDLM-2 | lymph node | ||||||||||
chr6 | 33052717 | 33052723 | ACGCTCC | CCACTCG | N | 0.00569336861372 | intronic | HLA-DPB1 | HDLM-2 | lymph node | |||||||||||||
chr6 | 33052736 | 33052736 | G | A | rs1126537 | N | 7.23011817172e-06 | N | N | N | N | nonsynonymous SNV | HLA-DPB1 | NM_002121 | 3 | 374 | 125 | R=>K | HDLM-2 | lymph node | |||
chr6 | 33054325 | 33054325 | G | C | rs1126719 | N | 0.000287799717626 | 0.368011 | 3-UTR | HLA-DPB1 | NM_002121 | HDLM-2 | lymph node | ||||||||||
chr6 | 33054331 | 33054331 | T | C | rs1126723 | N | 0.038886860013 | 3-UTR | HLA-DPB1 | NM_002121 | HDLM-2 | lymph node | |||||||||||
chr6 | 33054342 | 33054342 | T | A | rs1042448 | N | 0.000394385715481 | 0.364018 | 3-UTR | HLA-DPB1 | NM_002121 | HDLM-2 | lymph node | ||||||||||
chr6 | 33054353 | 33054355 | GAA | AAC | N | 0.00757699040696 | 3-UTR | HLA-DPB1 | NM_002121 | HDLM-2 | lymph node | ||||||||||||
chr6 | 33054373 | 33054373 | C | T | rs1042467 | N | 2.50294069701e-05 | 0.36262 | 3-UTR | HLA-DPB1 | NM_002121 | HDLM-2 | lymph node | ||||||||||
chr6 | 33054378 | 33054381 | GCAT | ACAC | N | 0.00703751295805 | 3-UTR | HLA-DPB1 | NM_002121 | HDLM-2 | lymph node | ||||||||||||
chr6 | 33054378 | 33054381 | GCAT | GCAC | N | 0.00703751295805 | 3-UTR | HLA-DPB1 | NM_002121 | HDLM-2 | lymph node | ||||||||||||
chr6 | 33054386 | 33054386 | C | T | rs1042497 | N | 3.23442291119e-05 | 0.360224 | 3-UTR | HLA-DPB1 | NM_002121 | HDLM-2 | lymph node | ||||||||||
chr6 | 33054400 | 33054404 | TTCAA | CTCAG | N | 0.0129381325096 | 3-UTR | HLA-DPB1 | NM_002121 | HDLM-2 | lymph node | ||||||||||||
chr6 | 33054410 | 33054414 | AAATT | CAAGA | N | 0.0303678028286 | 3-UTR | HLA-DPB1 | NM_002121 | HDLM-2 | lymph node | ||||||||||||
chr6 | 33054457 | 33054457 | A | G | rs1042544 | N | 2.39802029682e-05 | 0.46266 | 3-UTR | HLA-DPB1 | NM_002121 | HDLM-2 | lymph node | ||||||||||
chr6 | 33055047 | 33055047 | A | G | rs9277538 | N | 6.65887057494e-07 | 0.460064 | 3-UTR | HLA-DPB1 | NM_002121 | HDLM-2 | lymph node | ||||||||||
chr6 | 33172905 | 33172905 | T | C | rs365339 | N | 0.0129108978435 | 0.878395 | intronic | HSD17B8 | U-266/70 | liver | |||||||||||
chr6 | 33254556 | 33254563 | CCCACCAG | CGCCACCAG | D | 0.941022098064 | intronic | WDR46 | WD repeat domain 46 | U-266/84 | lymph node | ||||||||||||
chr6 | 33256984 | 33256984 | C | T | rs463260 | N | 0.486632794142 | 0.585264 | 5-UTR | WDR46 | NM_001164267 NM_005452 | WD repeat domain 46 | U-266/84 | lymph node | |||||||||
chr6 | 33272712 | 33272712 | C | A | rs2071889 | N | 0.000103198908619 | 0.48722 | intronic | TAPBP | TAP binding protein | Karpas-707 | spleen | ||||||||||
chr6 | 33272855 | 33272855 | G | C | rs2071888 | N | 7.74284217187e-06 | 0.591254 | N | P | N | N | nonsynonymous SNV | TAPBP | NM_172208 NM_172209 NM_003190 | 4,3,4 | 779,518,779 | 260,173,260 | T=>R,T=>R,T=>R | TAP binding protein | Karpas-707 | spleen | |
chr6 | 33283766 | 33283766 | T | C | rs3130100 | N | 8.16369208678e-07 | 0.534345 | N | N | N | N | nonsynonymous SNV | ZBTB22 | NM_005453 NM_001145338 | 2,2 | 928,310,928,310 | 310,310 | T=>A,T=>A | MCF-7 | ovary | ||
chr6 | 33286388 | 33286407 | CTTTTTTTTTTTTTTAAAGA | CTTTTTTTTTTTTTTTAAAGA | N | 0.113190636039 | 3-UTR | DAXX | NM_001141969 NM_001141970 NM_001254717 NM_001350 | Fas death domain-associated protein | HEL | lymph node | |||||||||||
chr6 | 33290547 | 33290547 | T | A | rs2073524 | N | 0.00542533770204 | 0.526757 | intronic | DAXX | Fas death domain-associated protein | HEL | lymph node | ||||||||||
chr6 | 33290825 | 33290825 | A | G | rs2073525 | N | 0.486632794142 | 0.592452 | upstream | DAXX | Fas death domain-associated protein | HEL | lymph node | ||||||||||
chr6 | 33307400 | 33307402 | TAT | TGAT | N | 0.00876371562481 | intergenic | ||||||||||||||||
chr6 | 33646328 | 33646328 | T | C | rs2274195 | N | 1.94532702835e-07 | 0.769169 | intronic | ITPR3 | inositol 1,4,5-triphosphate receptor 3 | HeLa | skin | ||||||||||
chr6 | 33647651 | 33647651 | A | G | rs4713654 | N | 0.402362376451 | intronic | ITPR3 | inositol 1,4,5-triphosphate receptor 3 | HeLa | skin | |||||||||||
chr6 | 33648228 | 33648228 | C | T | rs2229638 | N | 2.7870254371e-07 | 0.913738 | intronic | ITPR3(NM_002224:exon32:c.4345+2C>T) | |||||||||||||
chr6 | 33679596 | 33679596 | A | C | rs2274458 | N | 0.486632794142 | 0.53135 | upstream | UQCC2 | THP-1 | heart muscle | |||||||||||
chr6 | 33690796 | 33690797 | CA | TG | N | 0.000540353183169 | nonframeshift substitution | IP6K3 | NM_054111 NM_001142883 | 6,7 | 933,933 | inositol hexaphosphate kinase 3 | RH-30 | thyroid gland | |||||||||
chr6 | 33864998 | 33864998 | G | A | rs3800341 | N | 4.62641338572e-08 | 0.707668 | upstream | LINC01016 | |||||||||||||
chr6 | 33867897 | 33867900 | ACCG | GCCA | N | 0.00059123930987 | downstream | MIR7159 | |||||||||||||||
chr6 | 34725478 | 34725478 | G | A | rs7743724 | N | 0.0987121388316 | 0.14397 | intronic | SNRPC | U-937 | heart muscle | |||||||||||
chr6 | 34725658 | 34725658 | G | T | rs28398813 | N | 0.137333005667 | D | intronic | SNRPC | U-937 | heart muscle | |||||||||||
chr6 | 34735652 | 34735677 | CTTTTTTTTTTTTTTTTTCCTCACCC | CTTTTTTTTTTTTTTTTCCTCACCC | N | 0.466496288776 | intronic | SNRPC | U-937 | heart muscle | |||||||||||||
chr6 | 34759881 | 34759884 | AAAG | GAAC | N | 0.24266409874 | 5-UTR | UHRF1BP1 | NM_017754 | UHRF1 (ICBP90) binding protein 1 | K-562 | testis | |||||||||||
chr6 | 34824636 | 34824636 | A | G | rs11755393 | N | 0.00353674474172 | 0.467652 | N | N | N | N | nonsynonymous SNV | UHRF1BP1 | NM_017754 | 11 | 1361 | 454 | Q=>R | UHRF1 (ICBP90) binding protein 1 | K-562 | testis | |
chr6 | 34826921 | 34826921 | G | C | rs61732793 | N | 7.0438880357e-05 | 0.0253594 | N | N | N | N | nonsynonymous SNV | UHRF1BP1 | NM_017754 | 14 | 2788 | 930 | E=>Q | UHRF1 (ICBP90) binding protein 1 | K-562 | testis | |
chr6 | 34831856 | 34831856 | T | C | rs13205210 | N | 0.0152435526252 | 0.14377 | D | P | N | N | nonsynonymous SNV | UHRF1BP1 | NM_017754 | 15 | 3293 | 1098 | M=>T | UHRF1 (ICBP90) binding protein 1 | K-562 | testis | |
chr6 | 34840398 | 34840398 | G | A | rs3734261 | N | 0.312443315983 | 0.118011 | 3-UTR | UHRF1BP1 | NM_017754 | UHRF1 (ICBP90) binding protein 1 | K-562 | testis | |||||||||
chr6 | 34855748 | 34855748 | G | C | rs1051115 | N | 0.194150388241 | 0.155551 | 5-UTR | TAF11 | NM_001270488 NM_005643 | U-266/84 | testis | ||||||||||
chr6 | 35258539 | 35258539 | C | A | rs763157 | N | 1.73004500539e-05 | 0.921126 | intronic | ZNF76 | SCLC-21H | thyroid gland | |||||||||||
chr6 | 35479574 | 35479574 | G | C | rs7764472 | N | 2.75655281712e-07 | 0.874401 | N | N | N | N | nonsynonymous SNV | TULP1 | NM_003322 | 4 | 200 | 67 | T=>R | RETINITIS PIGMENTOSA 14 | tubby like protein 1 | BEWO | prostate |
chr6 | 35656563 | 35656563 | T | C | rs9462103 | N | 0.486632794142 | 0.785343 | 5-UTR | FKBP5 | NM_001145776 | FK506 binding protein 5 | U-698 | adipose tissue | |||||||||
chr6 | 36098191 | 36098191 | C | A | rs12210904 | N | 0.18297997117 | 0.228834 | upstream | MAPK13 | mitogen-activated protein kinase 13 | RPMI-8226 | esophagus | ||||||||||
chr6 | 36165213 | 36165213 | C | T | rs4713936 | N | 0.0464880801737 | 0.608427 | intronic | BRPF3 | bromodomain and PHD finger containing, 3 | SCLC-21H | testis | ||||||||||
chr6 | 36823502 | 36823506 | GAATT | GAAATT | D | 0.999563276768 | 3-UTR | PPIL1 | NM_016059 | peptidylprolyl isomerase (cyclophilin)-like 1 | K-562 | adrenal gland | |||||||||||
chr6 | 36989846 | 36989846 | G | C | rs831500 | N | 2.38945858655e-08 | 0.751398 | intronic | FGD2 | FYVE, RhoGEF and PH domain containing 2 | HDLM-2 | spleen | ||||||||||
chr6 | 37450914 | 37450914 | T | C | rs10692 | N | 1.1012261325e-07 | 0.670927 | 3-UTR | CCDC167 | NM_138493 | coiled-coil domain containing 167 | U-698 | lymph node | |||||||||
chr6 | 4020658 | 4020658 | G | A | rs1969836 | N | 0.0274502243847 | 0.505791 | upstream | PRPF4B | PRP4 pre-mRNA processing factor 4 homolog B (yeast) | K-562 | bone marrow | ||||||||||
chr6 | 4020695 | 4020695 | A | G | rs1969837 | N | 0.00956621393561 | 0.507588 | upstream | PRPF4B | PRP4 pre-mRNA processing factor 4 homolog B (yeast) | K-562 | bone marrow | ||||||||||
chr6 | 4066120 | 4066120 | G | A | rs866165 | N | 3.93922050534e-08 | 0.958267 | downstream | PRPF4B | PRP4 pre-mRNA processing factor 4 homolog B (yeast) | K-562 | bone marrow | ||||||||||
chr6 | 41462386 | 41462418 | ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC | ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC | N | 0.140242367983 | intergenic | ||||||||||||||||
chr6 | 41715311 | 41715311 | G | A | rs2027525 | N | 0.00149599497672 | 0.992412 | upstream | PGC | progastricsin (pepsinogen C) | Hep-G2 | stomach | ||||||||||
chr6 | 43394764 | 43394764 | A | C | rs10948077 | N | 8.32119549159e-05 | 0.497204 | upstream | ABCC10 | ATP-binding cassette, sub-family C (CFTR/MRP), member 10 | NB-4 | lymph node | ||||||||||
chr6 | 43399837 | 43399837 | A | G | rs700008 | N | 5.37895914476e-08 | 0.884385 | 5-UTR | ABCC10 | NM_033450 | ATP-binding cassette, sub-family C (CFTR/MRP), member 10 | NB-4 | lymph node | |||||||||
chr6 | 44122416 | 44122427 | TCTCCTCCTTCA | TCTCCTTCA | N | 0.416048079729 | intronic | TMEM63B | transmembrane protein 63b | K-562 | lung | ||||||||||||
chr6 | 44184153 | 44184153 | G | A | rs9462976 | N | 1.88051572536e-07 | 0.329273 | upstream | LOC101929726 | |||||||||||||
chr6 | 44244970 | 44244970 | C | G | rs16871694 | N | 0.000177933528903 | 0.144768 | 3-UTR | TMEM151B | NM_001137560 | SCLC-21H | cerebral cortex | ||||||||||
chr6 | 44245930 | 44245930 | C | T | rs325018 | N | 6.6547066524e-08 | 0.639577 | 3-UTR | TMEM151B | NM_001137560 | SCLC-21H | cerebral cortex | ||||||||||
chr6 | 44255459 | 44255459 | G | A | rs324146 | N | 1.82075723387e-08 | 0.644569 | D | N | N | N | nonsynonymous SNV | TCTE1 | NM_182539 | 2 | 104 | 35 | P=>L | t-complex-associated testis expressed 1 | Karpas-707 | testis | |
chr6 | 46107752 | 46107752 | C | G | rs7451713 | N | 5.46582941752e-06 | 0.451677 | N | N | N | N | nonsynonymous SNV | ENPP4 | NM_014936 | 2 | 432 | 144 | H=>Q | ectonucleotide pyrophosphatase/phosphodiesterase 4 | U-266/84 | bone marrow | |
chr6 | 52109408 | 52109425 | GTTTTTTTTTTTATTCCA | GTTTTTTTTTTATTCCA | N | 1.67373618751e-05 | upstream | IL17F | Karpas-707 | urinary bladder | |||||||||||||
chr6 | 52695563 | 52695563 | A | T | rs4712019 | N | 8.52728609946e-10 | 0.974241 | downstream | GSTA5 | BEWO | adrenal gland | |||||||||||
chr6 | 52735206 | 52735206 | A | G | rs9474335 | N | 5.66747537789e-10 | 0.476038 | intergenic | ||||||||||||||
chr6 | 52966315 | 52966315 | T | C | rs2013517 | N | 9.42646738444e-10 | 0.797324 | downstream | FBXO9 | f-box protein 9 | SCLC-21H | adrenal gland | ||||||||||
chr6 | 69772817 | 69772817 | C | G | rs2793459 | N | 1.56784562932e-06 | 0.595447 | intronic | ADGRB3 | |||||||||||||
chr6 | 70778378 | 70778379 | GC | CT | N | 0.000883327797055 | intronic | COL19A1 | collagen, type XIX, alpha 1 | RH-30 | lymph node | ||||||||||||
chr6 | 70812123 | 70812123 | A | G | rs7772672 | N | 1.49427350493e-07 | 0.845647 | intronic | COL19A1 | collagen, type XIX, alpha 1 | RH-30 | lymph node | ||||||||||
chr6 | 74036592 | 74036592 | C | G | rs517471 | N | 0.0284995101392 | 0.940895 | intergenic | ||||||||||||||
chr6 | 78174209 | 78174209 | T | C | rs1778258 | N | 0.00109576876275 | 0.931709 | upstream | HTR1B | TIME | stomach | |||||||||||
chr6 | 80816296 | 80816296 | T | C | rs2298307 | N | 0.486632794142 | 0.582468 | upstream | BCKDHB | branched chain ketoacid dehydrogenase E1, beta polypeptide | RH-30 | liver | ||||||||||
chr6 | 84290137 | 84290161 | TAAAGAAAAAAAAAAAAAACTAGAT | TAAAAAAAAAAAAAACTAGAT | N | 0.147144600749 | intronic | SNAP91 | synaptosomal-associated protein 91 | SCLC-21H | cerebral cortex | ||||||||||||
chr6 | 84419006 | 84419006 | C | G | rs217281 | N | 9.36528920192e-07 | 0.959864 | 5-UTR | SNAP91 | NM_014841 | synaptosomal-associated protein 91 | SCLC-21H | cerebral cortex | |||||||||
chr6 | 89772615 | 89772615 | A | G | rs10447337 | N | 6.59551369608e-06 | 0.266573 | intergenic | ||||||||||||||
chr6 | 90039670 | 90039670 | G | C | rs10502 | N | 8.05024342299e-07 | 0.682308 | N | N | N | N | nonsynonymous SNV | UBE2J1 | NM_016021 | 8 | 685 | 229 | L=>V | ubiquitin-conjugating enzyme E2J 1 | U-266/70 | lymph node | |
chr6 | 97064813 | 97064813 | C | A | rs57425973 | N | 8.25263759907e-06 | 0.461861 | 3-UTR | FHL5 | NM_001170807 NM_020482 NM_001322466 NM_001322467 | four and a half LIM domains 5 | A-431 | testis | |||||||||
chr6 | 97120988 | 97120988 | G | A | rs9374032 | N | 9.25914178662e-10 | 0.977436 | intergenic | ||||||||||||||
chr6 | 99622532 | 99622551 | CAAAAAAAAAAAAAGAGTTT | CAAAAAAAAAAAAAAGAGTTT | N | 0.103372104466 | intergenic | ||||||||||||||||
chr7 | 100091795 | 100091795 | T | C | rs12539172 | N | 1.39139338939e-10 | 0.759585 | 3-UTR | NYAP1 | NM_173564 | neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 1 | SH-SY5Y | cerebral cortex | |||||||||
chr7 | 100240771 | 100240771 | A | T | rs1052897 | N | 1.85780973938e-11 | 0.886182 | 3-UTR | ACTL6B | NM_016188 | actin-like 6B | SCLC-21H | cerebral cortex | |||||||||
chr7 | 100271521 | 100271521 | T | C | rs221789 | N | 0.0021371350158 | 0.859026 | 5-UTR | GNB2 | NM_005273 | guanine nucleotide binding protein (G protein), beta 2 | MCF-7 | esophagus | |||||||||
chr7 | 100284913 | 100284913 | C | G | rs221796 | N | 0.486632794142 | 0.909944 | intronic | GIGYF1 | GRB10 interacting GYF protein 1 | NB-4 | ovary | ||||||||||
chr7 | 100285974 | 100285974 | A | C | rs221797 | N | 7.9450301893e-10 | 0.920327 | 5-UTR | GIGYF1 | NM_022574 | GRB10 interacting GYF protein 1 | NB-4 | ovary | |||||||||
chr7 | 100817676 | 100817676 | A | G | rs740107 | N | 1.47277601226e-09 | 0.786741 | intronic | NAT16 | SH-SY5Y | thyroid gland | |||||||||||
chr7 | 100933785 | 100933791 | CGGGGCA | CGGGGGCA | N | 0.188157975674 | intergenic | ||||||||||||||||
chr7 | 100933792 | 100933792 | G | C | rs2410812 | N | 0.0112245762721 | 0.419529 | intergenic | ||||||||||||||
chr7 | 101005735 | 101005735 | C | T | rs10228118 | N | 0.00270113511942 | 0.622005 | upstream | COL26A1 | |||||||||||||
chr7 | 101459161 | 101459161 | T | C | rs28650922 | N | 0.400593876839 | 1 | upstream | CUX1 | cut-like homeobox 1 | U-698 | thyroid gland | ||||||||||
chr7 | 102113563 | 102113575 | TGGGGGGGGGTCT | TGGGGGGGGTCT | D | 0.86116206646 | 3-UTR | LRWD1 | NM_001317721 NM_152892 NM_006234 | leucine-rich repeats and WD repeat domain containing 1 | U-266/84 | testis | |||||||||||
chr7 | 102122620 | 102122620 | G | C | rs3988061 | N | 0.0086124362424 | downstream | RASA4B | U-138-MG | uterus | ||||||||||||
chr7 | 102574999 | 102575015 | TGAAGAAGAAAAGGAAC | TGAAGAAAAGGAAC | N | 1.16269520731e-05 | nonframeshift substitution | LRRC17 | NM_001031692 NM_005824 | 2,2 | 639,639 | RH-30 | ovary | ||||||||||
chr7 | 102743893 | 102743893 | C | T | rs3181009 | N | 8.55135056099e-08 | 0.863618 | N | N | N | N | nonsynonymous SNV | NAPEPLD | NM_001122838 NM_198990 | 5,5 | 1165,1165 | 389,389 | D=>N,D=>N | N-acyl phosphatidylethanolamine phospholipase D | U-2197 | kidney | |
chr7 | 10492863 | 10492863 | C | T | rs6464013 | N | 1.04395225797e-09 | 0.795527 | intergenic | ||||||||||||||
chr7 | 107880612 | 107880612 | A | G | rs1269634 | N | 4.12936795868e-09 | 0.451677 | 5-UTR | NRCAM | NM_001037132 NM_001193582 NM_001193583 NM_001193584 NM_005010 | neuron-glia-CAM-related cell adhesion molecule | EFO-21 | cerebral cortex | |||||||||
chr7 | 108204479 | 108204479 | A | G | rs40943 | N | 0.0174575448036 | 0.636981 | 3-UTR | THAP5 | NM_001287598 NM_182529 NM_001130475 NM_001287599 NM_001287601 | U-266/70 | thyroid gland | ||||||||||
chr7 | 111202501 | 111202501 | G | T | rs12154613 | N | 0.175942152739 | 0.79992 | intronic | IMMP2L | IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) | SK-MEL-30 | thyroid gland | ||||||||||
chr7 | 117024820 | 117024820 | T | G | rs1029396 | N | 2.38867073676e-07 | 0.224241 | D | P | N | N | nonsynonymous SNV | ASZ1 | NM_001301821 NM_001301822 NM_130768 | 6,5,6 | 647,23,647 | 216,8,216 | K=>T,K=>T,K=>T | ankyrin repeat, SAM and basic leucine zipper domain containing 1 | U-266/70 | testis | |
chr7 | 117176568 | 117176597 | AGATTGATTGATTGATTGATTGATTGATTT | AGATTGATTGATTGATTGATTGATTT | N | 0.425431638956 | intronic | CFTR | CYSTIC FIBROSIS | cystic fibrosis transmembrane conductance regulator | MOLT-4 | pancreas | |||||||||||
chr7 | 117188660 | 117188690 | ATGTGTGTGTGTGTGTGTGTGTGTTTTTTTA | ATGTGTGTGTGTGTGTGTGTGTGTGTTTTTTTA | N | 0.00990120880306 | intronic | CFTR | CYSTIC FIBROSIS | cystic fibrosis transmembrane conductance regulator | MOLT-4 | pancreas | |||||||||||
chr7 | 117825549 | 117825549 | T | G | rs9655829 | N | 0.000734488130547 | 0.743411 | intronic | LSM8 | |||||||||||||
chr7 | 120765954 | 120765954 | T | C | rs798949 | N | 0.000153955887072 | 0.505591 | intronic | CPED1 | K-562 | ovary | |||||||||||
chr7 | 120773954 | 120773954 | A | G | rs61128227 | N | 3.74746377929e-05 | 0.374201 | intronic | CPED1 | K-562 | ovary | |||||||||||
chr7 | 12609988 | 12609988 | G | C | rs2240571 | N | 3.13375358019e-06 | 0.52476 | upstream | SCIN | scinderin | SK-BR-3 | small intestine | ||||||||||
chr7 | 1271819 | 1271819 | G | A | rs10249139 | N | 1.41352107796e-09 | 0.96865 | upstream | UNCX | NB-4 | kidney | |||||||||||
chr7 | 127232201 | 127232201 | A | G | rs10808230 | N | 3.74147106186e-07 | 0.994808 | downstream | ARF5 | SCLC-21H | esophagus | |||||||||||
chr7 | 127847324 | 127847324 | C | A | rs11766170 | N | 1.41030298551e-09 | 0.747604 | upstream | MIR129-1 | |||||||||||||
chr7 | 130149326 | 130149326 | G | A | rs12706943 | N | 4.89545925575e-07 | 0.429113 | intronic | COPG2 | coatomer protein complex, subunit gamma 2 | RT-4 | ovary | ||||||||||
chr7 | 130613566 | 130613566 | C | T | rs207244 | N | 6.68761117595e-07 | 0.954273 | intergenic | ||||||||||||||
chr7 | 133984127 | 133984127 | A | G | rs2075371 | N | 3.50556539352e-09 | 0.475639 | intronic | SLC35B4 | solute carrier family 35, member B4 | U-266/84 | placenta | ||||||||||
chr7 | 134849213 | 134849213 | G | A | rs3800592 | N | 2.18773334382e-06 | 0.455871 | N | N | N | N | nonsynonymous SNV | TMEM140 | NM_018295 | 2 | 20 | 7 | R=>Q | U-266/70 | adipose tissue | ||
chr7 | 135347239 | 135347253 | GCCCCCCCCGCGCAT | GCCCCCCCCCGCGCAT | N | 0.486632794142 | 5-UTR | C7orf73 | NM_001130929 | U-87-MG | esophagus | ||||||||||||
chr7 | 13932601 | 13932601 | C | T | rs28557435 | N | 9.03214303349e-09 | 0.634585 | 3-UTR | ETV1 | NM_001163150 NM_001163151 NM_001163152 NM_001163147 NM_004956 NM_001163149 NM_001163148 | ets variant gene 1 | U-87-MG | salivary gland | |||||||||
chr7 | 141947082 | 141947082 | A | C | rs916011 | N | 6.90085869337e-07 | 0.562101 | upstream | MOXD2P | |||||||||||||
chr7 | 141998321 | 141998321 | C | T | rs116809379 | N | 3.68818636656e-13 | 0.978035 | intergenic | ||||||||||||||
chr7 | 142216750 | 142216750 | A | T | N | 0.00103328528348 | intergenic | ||||||||||||||||
chr7 | 142216818 | 142216818 | A | C | N | 0.00448559224606 | intergenic | ||||||||||||||||
chr7 | 142216823 | 142216824 | AG | GA | N | 0.0206724759191 | intergenic | ||||||||||||||||
chr7 | 142216842 | 142216842 | G | A | rs376929540 | N | 0.0330319702625 | intergenic | |||||||||||||||
chr7 | 142216863 | 142216863 | T | C | N | 0.0421542152762 | intergenic | ||||||||||||||||
chr7 | 142379096 | 142379096 | T | C | rs115675145 | N | 3.38658046051e-10 | 0.979633 | intergenic | ||||||||||||||
chr7 | 142481269 | 142481269 | A | T | N | 0.000246282172156 | ncRNA | PRSS3P2 | |||||||||||||||
chr7 | 142481287 | 142481292 | GCCCAT | TCCCGC | N | 0.000365683750715 | ncRNA | PRSS3P2 | |||||||||||||||
chr7 | 142482410 | 142482410 | T | C | N | 0.000166833531694 | downstream | PRSS3P2 | |||||||||||||||
chr7 | 142482434 | 142482439 | GCTCTC | CCTCCT | N | 0.000278146821074 | downstream | PRSS3P2 | |||||||||||||||
chr7 | 142482455 | 142482455 | C | T | N | 0.000282798224362 | downstream | PRSS3P2 | |||||||||||||||
chr7 | 148799338 | 148799338 | C | T | rs62507512 | N | 2.20962338062e-05 | 0.603435 | downstream | ZNF425 | MCF-7 | ovary | |||||||||||
chr7 | 149321976 | 149321976 | G | C | rs3213668 | N | 0.486632794142 | 0.241214 | upstream | ZNF767P | |||||||||||||
chr7 | 149322876 | 149322876 | T | C | rs171343 | N | 0.139902055264 | 0.771366 | upstream | ZNF767P | |||||||||||||
chr7 | 154860139 | 154860155 | AGGGGGGAAGGAGAGAC | AGGGGAAGGAGAGAC | N | 0.0231105796993 | ncRNA | HTR5A-AS1 | PC-3 | cerebral cortex | |||||||||||||
chr7 | 154876385 | 154876386 | AC | TT | N | 0.00200123502873 | 3-UTR | HTR5A | NM_024012 | 5-hydroxytryptamine (serotonin) receptor 5A | Karpas-707 | cerebral cortex | |||||||||||
chr7 | 154997261 | 154997271 | ACCCCCCCATT | ACCCCCCATT | N | 0.486632794142 | intergenic | ||||||||||||||||
chr7 | 155327307 | 155327307 | A | G | rs4716676 | N | 1.30296654637e-17 | 0.367013 | upstream | CNPY1 | canopy 1 homolog (zebrafish) | RPMI-8226 | pancreas | ||||||||||
chr7 | 158498053 | 158498053 | T | C | rs4909097 | N | 0.0137962987646 | 0.997204 | upstream | NCAPG2 | non-SMC condensin II complex, subunit G2 | MCF-7 | testis | ||||||||||
chr7 | 1787003 | 1787003 | G | C | rs1534788 | N | 2.00686017138e-07 | 0.43151 | 3-UTR | ELFN1 | NM_001128636 | U-2-OS | liver | ||||||||||
chr7 | 19813018 | 19813018 | T | C | rs12673970 | N | 0.0441311262548 | 0.38778 | upstream | TMEM196 | SCLC-21H | cerebral cortex | |||||||||||
chr7 | 20418926 | 20418926 | T | C | rs1042277 | N | 0.00584353040904 | 0.335663 | intronic | ITGB8 | integrin beta 8 | WM-115 | kidney | ||||||||||
chr7 | 20817492 | 20817496 | CAAGC | CAAAGC | N | 0.274779945612 | intergenic | ||||||||||||||||
chr7 | 23531399 | 23531399 | G | C | rs6975966 | N | 3.7957320842e-08 | 0.983227 | downstream | RPS2P32 | |||||||||||||
chr7 | 23872024 | 23872037 | CTTTGGTTTGGTTA | CTTTGTTTGGTTTGGTTA | N | 0.00369210611098 | 3-UTR | STK31 | NM_001260505 NM_031414 NM_001260504 NM_032944 | serine threonine kinase 31 | CACO-2 | testis | |||||||||||
chr7 | 27201532 | 27201532 | C | A | rs875896 | N | 5.97685669845e-08 | 0.538538 | downstream | HOXA10-HOXA9 HOXA9 | |||||||||||||
chr7 | 27203139 | 27203139 | G | A | rs7810502 | N | 4.22222424124e-13 | 0.63139 | ncRNA | HOXA10-HOXA9 | |||||||||||||
chr7 | 27240015 | 27240023 | AGGCGGCCC | AGGGCGGCCC | N | 0.415506571531 | upstream | HOTTIP HOXA13 | |||||||||||||||
chr7 | 31003423 | 31003423 | C | T | rs2302019 | N | 5.44722115592e-06 | 0.58107 | upstream | GHRHR | growth hormone releasing hormone receptor | NTERA-2 | cerebral cortex | ||||||||||
chr7 | 32982559 | 32982559 | T | C | rs3750077 | N | 0.275846779346 | 0.548522 | ncRNA | RP9P | |||||||||||||
chr7 | 37924737 | 37924737 | T | G | rs1530822 | N | 1.68203973772e-06 | 0.553315 | intronic | NME8 | NME/NM23 family member 8 | U-937 | bone marrow | ||||||||||
chr7 | 38279663 | 38279663 | T | C | rs1053771 | N | 2.59792477664e-06 | intergenic | |||||||||||||||
chr7 | 38468695 | 38468695 | C | T | rs2392572 | N | 3.90334076172e-09 | 0.899561 | intronic | AMPH | amphiphysin | U-138-MG | cerebral cortex | ||||||||||
chr7 | 39649055 | 39649055 | A | G | rs4723883 | N | 0.0872747525573 | 0.260783 | intronic | YAE1D1 | NTERA-2 | testis | |||||||||||
chr7 | 42960618 | 42960618 | C | A | rs591875 | N | 2.46056219844e-09 | 0.851837 | intronic | PSMA2 | proteasome (prosome, macropain) subunit, alpha type 2 | NB-4 | liver | ||||||||||
chr7 | 43540782 | 43540810 | CTTTTTTTTTTTTTTTTTTTTCATATGCA | CTTTTTTTTTTTTTTTTCATATGCA | N | 0.00110069324728 | intronic | HECW1 | HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 | A-549 | kidney | ||||||||||||
chr7 | 43540782 | 43540810 | CTTTTTTTTTTTTTTTTTTTTCATATGCA | CTTTTTTTTTTTTTTTTTCATATGCA | N | 0.000221249472816 | intronic | HECW1 | HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 | A-549 | kidney | ||||||||||||
chr7 | 43847709 | 43847709 | G | A | rs589570 | N | 4.51261650269e-09 | 0.478435 | downstream | BLVRA | RPMI-8226 | spleen | |||||||||||
chr7 | 43916727 | 43916727 | T | G | rs2232108 | N | 5.51608763999e-07 | 0.510982 | D | N | N | N | nonsynonymous SNV | URGCP | NM_001290075 NM_001290076 NM_001077664 NM_017920 NM_001077663 | 6,7,6,5,6 | 2206,2206,2206,2308,2335 | 736,736,736,770,779 | M=>L,M=>L,M=>L,M=>L,M=>L | upregulator of cell proliferation | U-266/84 | adrenal gland | |
chr7 | 44084292 | 44084292 | C | G | rs4430012 | N | 0.486632794142 | 0.448682 | 5-UTR | DBNL | NM_001014436 NM_001122956 NM_014063 NM_001284313 NM_001284315 | drebrin-like | WM-115 | esophagus | |||||||||
chr7 | 44147485 | 44147485 | C | A | rs2537188 | N | 5.98847336164e-08 | 0.357428 | N | N | N | N | nonsynonymous SNV | AEBP1 | NM_001129 | 5 | 817 | 273 | P=>T | AE binding protein 1 | WM-115 | gallbladder | |
chr7 | 44749426 | 44749426 | C | T | rs1076274 | N | 6.03993503319e-05 | 0.249401 | downstream | OGDH | oxoglutarate dehydrogenase (lipoamide) | RPMI-8226 | heart muscle | ||||||||||
chr7 | 44839997 | 44840023 | CTTTTTTTTTTTTTTTCTTTTCTCAGA | CTTTTTTTTTTTTTTTTCTTTTCTCAGA | N | 0.45138502121 | intronic | PPIA | NB-4 | lymph node | |||||||||||||
chr7 | 44959936 | 44959936 | A | G | rs4724334 | N | 5.77013659075e-10 | 0.559505 | intergenic | ||||||||||||||
chr7 | 45119515 | 45119515 | A | G | rs111979067 | N | 7.44714556689e-09 | 0.0652955 | downstream | NACAD | NAC alpha domain containing | SCLC-21H | cerebral cortex | ||||||||||
chr7 | 45119946 | 45119946 | T | G | rs35199312 | N | 4.66896313278e-12 | 0.219249 | downstream | NACAD | NAC alpha domain containing | SCLC-21H | cerebral cortex | ||||||||||
chr7 | 45122464 | 45122464 | A | C | rs10243185 | N | 2.95360402802e-09 | 0.485623 | N | N | N | N | nonsynonymous SNV | NACAD | NM_001146334 | 2 | 3315 | 1105 | D=>E | NAC alpha domain containing | SCLC-21H | cerebral cortex | |
chr7 | 45124008 | 45124008 | T | C | rs7777835 | N | 6.51299487799e-05 | 0.636581 | N | N | N | N | nonsynonymous SNV | NACAD | NM_001146334 | 2 | 1771 | 591 | K=>E | NAC alpha domain containing | SCLC-21H | cerebral cortex | |
chr7 | 45148667 | 45148667 | G | A | rs2304693 | N | 3.11826688915e-08 | 0.126398 | N | N | N | N | nonsynonymous SNV | TBRG4 | NM_001261834 NM_004749 NM_030900 NM_199122 | 2,2,2,2 | 203,170,170,170 | 68,57,57,57 | P=>L,P=>L,P=>L,P=>L | transforming growth factor beta regulated gene 4 | K-562 | appendix | |
chr7 | 45854001 | 45854001 | C | T | rs112123244 | N | 1.54922181537e-05 | 0.120807 | intergenic | ||||||||||||||
chr7 | 47317510 | 47317510 | G | A | rs3750163 | N | 4.54099199487e-06 | 0.28155 | 3-UTR | TNS3 | NM_022748 | tensin 3 | A-549 | placenta | |||||||||
chr7 | 47835027 | 47835027 | A | G | rs9719534 | N | 5.79933683298e-08 | 0.665335 | nonsynonymous SNV | C7orf69 | NM_025031 | 1 | 94 | 32 | K=>E | U-138-MG | adipose tissue | ||||||
chr7 | 47988552 | 47988552 | T | C | rs2708860 | N | 1.20668952608e-09 | 0.850839 | upstream | PKD1L1 | polycystic kidney disease 1 like 1 | U-266/70 | testis | ||||||||||
chr7 | 48315796 | 48315796 | C | A | rs1880736 | N | 7.51989759351e-09 | 0.812899 | N | N | N | N | nonsynonymous SNV | ABCA13 | NM_152701 | 17 | 6533 | 2178 | A=>E | ATP-binding cassette, sub-family A (ABC1), member 13 | U-2-OS | bone marrow | |
chr7 | 48318811 | 48318811 | C | T | rs2222648 | N | 4.42744720885e-08 | 0.852236 | N | N | N | N | nonsynonymous SNV | ABCA13 | NM_152701 | 18 | 8020 | 2674 | R=>W | ATP-binding cassette, sub-family A (ABC1), member 13 | U-2-OS | bone marrow | |
chr7 | 48887548 | 48887548 | G | C | rs4404869 | N | 3.83120914194e-06 | 0.58766 | intergenic | ||||||||||||||
chr7 | 48964209 | 48964217 | TGGGCCGCC | TGGCCGCC | N | 0.0209951922297 | ncRNA | CDC14C | |||||||||||||||
chr7 | 48965427 | 48965427 | A | G | rs388312 | N | 4.84271879486e-07 | 0.529553 | ncRNA | CDC14C | |||||||||||||
chr7 | 49815390 | 49815390 | C | G | rs769604 | N | 0.486632794142 | 0.494209 | N | N | N | N | nonsynonymous SNV | VWC2 | NM_198570 | 2 | 359,120 | 120 | A=>G | von Willebrand factor C domain containing 2 | U-266/70 | heart muscle | |
chr7 | 50023122 | 50023122 | C | T | rs988392 | N | 2.907969332e-08 | 0.783347 | intronic | ZPBP | zona pellucida binding protein | HDLM-2 | testis | ||||||||||
chr7 | 50156916 | 50156916 | C | G | rs6959792 | N | 3.44663995122e-08 | 0.844649 | intronic | C7orf72 | U-698 | testis | |||||||||||
chr7 | 50173777 | 50173777 | A | G | rs998928 | N | 1.3766353959e-06 | 0.586262 | N | N | N | nonsynonymous SNV | C7orf72 | NM_001161834 | 4 | 802,268 | 268 | T=>A | U-698 | testis | |||
chr7 | 51083569 | 51083569 | G | T | rs7804555 | N | 7.14729253559e-08 | 0.453474 | downstream | COBL | cordon-bleu | HeLa | salivary gland | ||||||||||
chr7 | 51085127 | 51085133 | ATTTGGC | ATTTTGGC | N | 0.00112780020572 | 3-UTR | COBL | NM_001287436 NM_015198 | cordon-bleu | HeLa | salivary gland | |||||||||||
chr7 | 5156472 | 5156472 | C | A | rs4400288 | N | 3.96637324229e-06 | 0.302915 | intergenic | ||||||||||||||
chr7 | 5257490 | 5257490 | T | C | rs7791896 | N | 7.4203853782e-14 | 0.960463 | intronic | WIPI2 | WD repeat domain, phosphoinositide interacting 2 | U-2-OS | testis | ||||||||||
chr7 | 53071722 | 53071724 | TGC | TGGC | N | 0.00346326548606 | intergenic | ||||||||||||||||
chr7 | 53931742 | 53931742 | A | G | rs12532893 | N | 6.23637379249e-06 | 0.432109 | intergenic | ||||||||||||||
chr7 | 55412661 | 55412682 | GCGCCCGCCCGCCTCTCCTGCC | GCGCCCGCCCGCCTCTCCTGCCGCCCGCCCGCCTCTCCTGCC | N | 0.486632794142 | intergenic | ||||||||||||||||
chr7 | 55658927 | 55658927 | T | C | rs62455009 | N | 0.000312147982186 | 0.309505 | intergenic | ||||||||||||||
chr7 | 55659693 | 55659693 | G | A | rs11974462 | N | 0.000111845110951 | 0.197484 | intergenic | ||||||||||||||
chr7 | 55659698 | 55659715 | ACCCCCCCTCTTTTCCTG | ACCCCCCTCTTTTCCTG | N | 0.00918830931187 | intergenic | ||||||||||||||||
chr7 | 55659732 | 55659732 | T | G | rs7798941 | N | 2.76126513654e-07 | 0.816693 | intergenic | ||||||||||||||
chr7 | 55724445 | 55724445 | A | C | rs9656709 | N | 1.42323087857e-05 | 0.414337 | intergenic | ||||||||||||||
chr7 | 56122058 | 56122058 | A | T | rs6593297 | N | 2.32399434026e-05 | 0.642372 | intronic | CCT6A | chaperonin containing Tcp1, subunit 6a (zeta) | A-431 | appendix | ||||||||||
chr7 | 56443361 | 56443361 | T | G | rs6965270 | N | 2.93013813213e-09 | 0.719449 | intergenic | ||||||||||||||
chr7 | 57188016 | 57188016 | A | G | rs11981414 | N | 6.67953810752e-13 | 0.321685 | N | N | N | N | nonsynonymous SNV | ZNF479 | NM_033273 | 5 | 1106 | 369 | M=>T | A-431 | testis | ||
chr7 | 57188526 | 57188526 | T | C | rs7805171 | N | 3.76982055598e-13 | 0.321286 | N | N | N | N | nonsynonymous SNV | ZNF479 | NM_033273 | 5 | 596 | 199 | H=>R | A-431 | testis | ||
chr7 | 57233554 | 57233554 | G | C | rs34820155 | N | 5.93840425722e-08 | 0.230232 | ncRNA | GUSBP10 | |||||||||||||
chr7 | 57473285 | 57473285 | G | C | rs6557577 | N | 6.76480382822e-08 | 0.84365 | downstream | MIR3147 | |||||||||||||
chr7 | 57484131 | 57484131 | G | A | rs6557578 | N | 1.59739474981e-08 | 0.602636 | intergenic | ||||||||||||||
chr7 | 57485650 | 57485650 | C | T | rs7809672 | N | 0.00012572221749 | 0.261981 | intergenic | ||||||||||||||
chr7 | 57710955 | 57710956 | CC | GG | N | 0.033300794661 | intergenic | ||||||||||||||||
chr7 | 57711076 | 57711076 | T | C | rs377454694 | N | 0.00608692783862 | intergenic | |||||||||||||||
chr7 | 62809369 | 62809369 | T | C | rs2241015 | N | 1.76069381297e-08 | 0.63758 | ncRNA | LOC102724738 | |||||||||||||
chr7 | 63071498 | 63071498 | T | C | rs3857654 | N | 0.00250526564196 | intergenic | |||||||||||||||
chr7 | 63815621 | 63815621 | G | C | rs603101 | N | 6.8398850317e-07 | 0.538938 | 3-UTR | ZNF736 | NM_001170905 | AN3-CA | testis | ||||||||||
chr7 | 64498641 | 64498659 | CGCGGCGGCGGCCGCGGCA | CGCGGCGGCGGCGGCGGCGGCGGCGGCCGCGGCA | N | 0.486632794142 | upstream | CCT6P3 | |||||||||||||||
chr7 | 64727725 | 64727726 | GC | TT | N | 0.0242482963949 | intergenic | ||||||||||||||||
chr7 | 65228507 | 65228507 | C | T | rs1799103 | N | 8.9441316959e-05 | ncRNA | CCT6P1 | ||||||||||||||
chr7 | 6523396 | 6523396 | C | G | rs12113949 | N | 0.041035681963 | 0.796925 | intronic | KDELR2 | KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 | WM-115 | stomach | ||||||||||
chr7 | 6683454 | 6683454 | A | G | rs2253869 | N | 2.17507658817e-06 | 0.709665 | nonsynonymous SNV | ZNF316 | NM_001278559 | 7 | 467 | 156 | E=>G | ||||||||
chr7 | 6692605 | 6692605 | T | C | rs1474419 | N | 1.51656269765e-08 | 0.838458 | nonsynonymous SNV | ZNF316 | NM_001278559 | 9 | 1378 | 460 | S=>P | ||||||||
chr7 | 67235848 | 67235848 | T | C | rs60373586 | N | 2.44749376321e-09 | 0.742612 | intergenic | ||||||||||||||
chr7 | 6863474 | 6863474 | C | G | rs2711231 | N | 0.0309472139925 | intronic | CCZ1B | THP-1 | skin | ||||||||||||
chr7 | 6894849 | 6894849 | G | A | rs10276823 | N | 3.31698083755e-06 | 0.858027 | intergenic | ||||||||||||||
chr7 | 6894855 | 6894855 | G | T | rs10276825 | N | 3.67310985894e-06 | 0.858027 | intergenic | ||||||||||||||
chr7 | 73279482 | 73279482 | T | C | rs13227841 | N | 5.02850372452e-10 | 0.561701 | N | N | N | N | nonsynonymous SNV | WBSCR28 | NM_182504 | 2 | 232 | 78 | W=>R | Williams-Beuren syndrome chromosome region 28 (human) | MCF-7 | testis | |
chr7 | 73523685 | 73523685 | G | A | rs150865 | N | 2.84473644641e-09 | 0.826078 | intronic | LIMK1 | LIM-domain containing, protein kinase | U-87-MG | cerebral cortex | ||||||||||
chr7 | 73814749 | 73814749 | G | C | rs2522943 | N | 1.41159812728e-08 | 0.988818 | N | N | N | N | nonsynonymous SNV | CLIP2 | NM_003388 NM_032421 | 15,14 | 2930,2825 | 977,942 | R=>P,R=>P | CAP-GLY domain containing linker protein 2 | HDLM-2 | cerebral cortex | |
chr7 | 74489486 | 74489486 | T | C | rs6955671 | N | 0.486632794142 | 0.467652 | nonsynonymous SNV | RCC1L | NM_030798 NM_001281441 NM_148842 | 1,1,1 | 88,88,88 | 30,30,30 | R=>G,R=>G,R=>G | ||||||||
chr7 | 74776225 | 74776225 | G | T | rs34472859 | N | 0.000313413795084 | 0.11262 | ncRNA | GTF2IP1 PMS2P5 | |||||||||||||
chr7 | 76828953 | 76828953 | C | T | rs2075761 | N | 0.000229055935051 | 0.151757 | N | N | N | N | nonsynonymous SNV | FGL2 | NM_006682 | 1 | 158 | 53 | G=>E | WM-115 | spleen | ||
chr7 | 76889256 | 76889315 | AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA | AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA | N | 0.229392066598 | intronic | CCDC146 | coiled-coil domain containing 146 | NB-4 | testis | ||||||||||||
chr7 | 77165919 | 77165919 | A | G | rs3763404 | N | 0.00599025050178 | 0.365415 | upstream | PTPN12 | protein tyrosine phosphatase, non-receptor type 12 | WM-115 | lung | ||||||||||
chr7 | 77584159 | 77584174 | ATTTTTTTTTTTCTAG | ATTTTTTTTTTTTCTAG | D | 0.665250003338 | intronic | PHTF2 | putative homeodomain transcription factor 2 | U-138-MG | lymph node | ||||||||||||
chr7 | 77708131 | 77708131 | A | G | rs73136595 | N | 5.33016027475e-05 | 0.214856 | intronic | MAGI2 | membrane associated guanylate kinase, WW and PDZ domain containing 2 | Karpas-707 | cerebral cortex | ||||||||||
chr7 | 79764742 | 79764742 | A | G | rs2465480 | N | 4.52794984085e-06 | 0.835064 | intronic | GNAI1 | guanine nucleotide binding protein (G protein), alpha inhibiting 1 | A-549 | adipose tissue | ||||||||||
chr7 | 81579832 | 81579866 | TAAAAAAAAAAGAAAAGAACAGAAAAAGAAAAATC | TAAAAAAAAAAAGAAAAGAACAGAAAAAGAAAAATC | N | 0.0011714581633 | intronic | CACNA2D1 | calcium channel, voltage-dependent, alpha2/delta subunit 1 | SH-SY5Y | heart muscle | ||||||||||||
chr7 | 89964044 | 89964049 | TCCCGA | TCCCCGA | N | 0.026404781267 | upstream | LOC101927446 | |||||||||||||||
chr7 | 90838708 | 90838722 | GTCTCTCTCTCTCTG | GTCTCTCTCTCTCTCTG | N | 0.292998969555 | 3-UTR | CDK14 | NM_001287135 NM_012395 NM_001287136 NM_001287137 | cyclin-dependent kinase 14 | Karpas-707 | cerebral cortex | |||||||||||
chr7 | 91599825 | 91599825 | A | C | rs2188155 | N | 3.40417900588e-05 | 0.372404 | intronic | AKAP9 | A kinase (PRKA) anchor protein (yotiao) 9 | MCF-7 | colon | ||||||||||
chr7 | 91652178 | 91652182 | AAACT | AAACAACT | N | 0.350123465061 | nonframeshift substitution | AKAP9 | NM_147185 NM_005751 | 14,14 | 4003,4003 | A kinase (PRKA) anchor protein (yotiao) 9 | MCF-7 | colon | |||||||||
chr7 | 91707197 | 91707197 | C | T | rs733957 | N | 0.0026357343886 | 0.36242 | intronic | AKAP9 | A kinase (PRKA) anchor protein (yotiao) 9 | MCF-7 | colon | ||||||||||
chr7 | 91713016 | 91713018 | TAA | TT | N | 0.0603901259601 | intronic | AKAP9 | A kinase (PRKA) anchor protein (yotiao) 9 | MCF-7 | colon | ||||||||||||
chr7 | 92071302 | 92071302 | C | T | rs38804 | N | 1.28179702963e-10 | 0.9998 | intergenic | ||||||||||||||
chr7 | 92129161 | 92129186 | CAAAAAAAAAAAATATGAAAAAGAGC | CAAAAAAAAAAATATGAAAAAGAGC | N | 0.16381829977 | intronic | PEX1 | PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 1B, INCLUDED | peroxisomal biogenesis factor 1 | SK-BR-3 | skin | |||||||||||
chr7 | 95125050 | 95125070 | CTTTTTTTTTTTTTTTTCAGG | CTTTTTTTTTTTTTTCAGG | N | 0.158232197165 | nonframeshift substitution | ASB4 | NM_016116 NM_145872 | 2,2 | 188,188 | ankyrin repeat and SOCS box-containing 4 | Hep-G2 | adrenal gland | |||||||||
chr7 | 97066787 | 97066787 | C | A | rs78471983 | N | 0.00014095120423 | 0.186701 | intergenic | ||||||||||||||
chr7 | 98444287 | 98444287 | C | T | rs1047035 | N | 4.4689824108e-07 | 0.208866 | 3-UTR | TMEM130 | NM_001134450 NM_001134451 NM_152913 | transmembrane protein 130 | SH-SY5Y | cerebral cortex | |||||||||
chr7 | 98648517 | 98648531 | TGGGGGGGGGGTCTC | TGGGGGGGGGTCTC | N | 0.323937445879 | intronic | SMURF1 | SMAD specific E3 ubiquitin protein ligase 1 | U-2197 | testis | ||||||||||||
chr7 | 99816272 | 99816275 | ACCG | GCCC | D | 0.692001461983 | intronic | GATS | |||||||||||||||
chr7 | 99818927 | 99818927 | C | T | rs705867 | N | 0.486632794142 | 0.482428 | 3-UTR | PVRIG | NM_024070 | MOLT-4 | lymph node | ||||||||||
chr7 | 99819004 | 99819009 | CTCTGT | CT | N | 0.486632794142 | 3-UTR | PVRIG | NM_024070 | MOLT-4 | lymph node | ||||||||||||
chr8 | 10339480 | 10339480 | A | G | rs4476970 | N | 3.52899363065e-08 | 0.997404 | ncRNA | LINCR-0001 | |||||||||||||
chr8 | 11189535 | 11189535 | T | C | rs12681991 | N | 5.62656941838e-06 | 0.429712 | N | N | N | N | nonsynonymous SNV | SLC35G5 | NM_054028 | 1 | 35,920 | 307 | L=>P | HeLa | testis | ||
chr8 | 113241088 | 113241088 | T | G | rs1592624 | N | 7.23543223557e-07 | 0.71226 | N | D | P | N | nonsynonymous SNV | CSMD3 | NM_198124 NM_198123 NM_052900 | 71,70,68 | 10741,10861,10354 | 3581,3621,3452 | N=>H,N=>H,N=>H | CUB and Sushi multiple domains 3 | SCLC-21H | testis | |
chr8 | 116635872 | 116635874 | TAG | TAAG | D | 0.996821880341 | 5-UTR | TRPS1 | NM_001282903 NM_014112 | trichorhinophalangeal syndrome I (human) | SK-BR-3 | esophagus | |||||||||||
chr8 | 117799012 | 117799012 | A | G | rs1867840 | N | 4.25755608546e-09 | 0.798722 | intergenic | ||||||||||||||
chr8 | 12294359 | 12294359 | G | C | rs2980473 | N | 0.486632794142 | 0.757388 | upstream | FAM86B2 LOC100506990 | |||||||||||||
chr8 | 12437086 | 12437086 | A | C | rs632696 | N | 1.69771581682e-07 | 0.989217 | ncRNA | LOC729732 | |||||||||||||
chr8 | 12485890 | 12485890 | T | C | rs624361 | N | 4.52644322024e-09 | 0.990016 | ncRNA | LOC729732 | |||||||||||||
chr8 | 12516729 | 12516729 | T | G | rs658131 | N | 1.2159523605e-12 | 0.95028 | ncRNA | LOC729732 | |||||||||||||
chr8 | 125321494 | 125321494 | G | C | rs35076079 | N | 0.0005616323906 | 0.143371 | intergenic | ||||||||||||||
chr8 | 136246261 | 136246261 | G | A | rs1115836 | N | 9.19494524965e-09 | 0.792133 | upstream | LINC01591 | |||||||||||||
chr8 | 139096378 | 139096378 | T | G | rs3861782 | N | 3.35255208483e-06 | 0.566294 | intergenic | ||||||||||||||
chr8 | 139141428 | 139141428 | C | A | rs6577874 | N | 4.92006613229e-09 | 0.879393 | downstream | FAM135B | family with sequence similarity 135, member B | RH-30 | testis | ||||||||||
chr8 | 141528090 | 141528090 | C | T | rs4961330 | N | 9.71017698248e-07 | 0.773363 | downstream | CHRAC1 | MOLT-4 | lymph node | |||||||||||
chr8 | 142217172 | 142217172 | C | T | rs10098385 | N | 3.49976297942e-11 | 0.324481 | downstream | SLC45A4 | solute carrier family 45, member 4 | HMC-1 | testis | ||||||||||
chr8 | 142220532 | 142220537 | GAAAGT | GAAGT | D | 0.853348433971 | 3-UTR | SLC45A4 | NM_001080431 NM_001286646 | solute carrier family 45, member 4 | HMC-1 | testis | |||||||||||
chr8 | 142443150 | 142443150 | T | C | rs7823705 | N | 1.82284082939e-07 | 0.55611 | downstream | MROH5 PTP4A3 | |||||||||||||
chr8 | 142443841 | 142443841 | A | C | rs6578182 | N | 5.19186213119e-12 | 0.516174 | downstream | MROH5 | |||||||||||||
chr8 | 142517222 | 142517222 | A | G | rs2748421 | N | 1.56195505951e-06 | 0.368211 | exonic | MROH5 | |||||||||||||
chr8 | 143603318 | 143603318 | C | T | rs7462471 | N | 1.02533050494e-07 | 0.547724 | intronic | ADGRB1 | |||||||||||||
chr8 | 143653753 | 143653753 | T | G | rs7386652 | N | 2.17270368807e-07 | 0.63099 | intergenic | ||||||||||||||
chr8 | 143722537 | 143722537 | C | T | rs6984406 | N | 6.91464774327e-10 | 0.509185 | downstream | LOC101928087 | |||||||||||||
chr8 | 143743611 | 143743611 | G | A | rs2976400 | N | 8.32489133185e-10 | 0.492212 | 3-UTR | JRK | NM_003724 | ||||||||||||
chr8 | 144391452 | 144391452 | G | A | rs11136285 | N | 8.14193754195e-07 | 0.615615 | downstream | TOP1MT | DNA topoisomerase 1, mitochondrial | MOLT-4 | ovary | ||||||||||
chr8 | 144391728 | 144391728 | A | G | rs7386475 | N | 5.75092751198e-11 | 0.584665 | intronic | TOP1MT | DNA topoisomerase 1, mitochondrial | MOLT-4 | ovary | ||||||||||
chr8 | 144391924 | 144391925 | CT | TC | N | 0.000437081005657 | intronic | TOP1MT | DNA topoisomerase 1, mitochondrial | MOLT-4 | ovary | ||||||||||||
chr8 | 144399885 | 144399886 | AG | CT | N | 0.00581039953977 | intronic | TOP1MT | DNA topoisomerase 1, mitochondrial | MOLT-4 | ovary | ||||||||||||
chr8 | 144649541 | 144649550 | GCCCCGGGCA | GCCCCCGGGCG | N | 0.486632794142 | frameshift substitution | MROH6 | NM_001100878 | 14 | 2019 | SK-BR-3 | bone marrow | ||||||||||
chr8 | 144649541 | 144649550 | GCCCCGGGCA | GCCCCGGGCG | N | 0.486632794142 | nonframeshift substitution | MROH6 | NM_001100878 | 14 | 2019 | SK-BR-3 | bone marrow | ||||||||||
chr8 | 144676098 | 144676098 | A | C | rs1057556 | N | 5.1706177534e-11 | 0.73742 | 5-UTR | EEF1D | NM_001130055 | eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) | U-2-OS | ovary | |||||||||
chr8 | 144681777 | 144681777 | G | T | rs10282929 | N | 1.44145251291e-09 | 0.59984 | N | N | N | N | nonsynonymous SNV | TIGD5 | NM_032862 | 1 | 1704 | 568 | M=>I | PC-3 | spleen | ||
chr8 | 144686512 | 144686512 | G | A | rs755217 | N | 3.7582569945e-08 | 0.242412 | 3-UTR | PYCRL | NM_023078 | pyrroline-5-carboxylate reductase-like | PC-3 | salivary gland | |||||||||
chr8 | 145004546 | 145004546 | G | A | rs11780911 | N | 3.7351604476e-08 | 0.571885 | intronic | PLEC | plectin | PC-3 | skin | ||||||||||
chr8 | 145063412 | 145063412 | T | C | rs11784833 | N | 3.86550347287e-09 | 0.208267 | upstream | GRINA | MCF-7 | adipose tissue | |||||||||||
chr8 | 145167922 | 145167922 | G | C | rs4977194 | N | 1.43555634047e-09 | 0.872404 | intronic | WDR97 | |||||||||||||
chr8 | 145223191 | 145223191 | G | A | rs6982878 | N | 3.92951730183e-12 | 0.844449 | intronic | MROH1 | PC-3 | thyroid gland | |||||||||||
chr8 | 145741702 | 145741702 | C | G | rs4244612 | N | 0.00247919908725 | 0.447684 | N | N | nonsynonymous SNV | RECQL4 | NM_004260 | 5 | 801 | 267 | E=>D | RecQ protein-like 4 | MCF-7 | bone marrow | |||
chr8 | 145750138 | 145750138 | T | C | rs2721138 | N | 0.00387325603515 | 0.558706 | 3-UTR | LRRC14 | NM_001272036 NM_014665 | leucine rich repeat containing 14 | U-2-OS | prostate | |||||||||
chr8 | 145752467 | 145752467 | A | T | rs2721142 | N | 0.486632794142 | 0.443091 | 3-UTR | C8orf82 | NM_001001795 | PC-3 | prostate | ||||||||||
chr8 | 146221823 | 146221823 | A | T | rs2978409 | N | 3.39534764748e-08 | 1 | ncRNA | TMED10P1 | |||||||||||||
chr8 | 1677399 | 1677399 | A | C | rs2977181 | N | 5.22332666009e-09 | 0.837061 | intergenic | ||||||||||||||
chr8 | 16850416 | 16850416 | A | G | rs2640901 | N | 3.79589124577e-08 | 0.953474 | 3-UTR | FGF20 | NM_019851 | CAPAN-2 | ovary | ||||||||||
chr8 | 20231244 | 20231288 | AGAGGAGGAGGAAGAAGAGGAGGAGAGAAAGGAGGAGGAAGAAAA | AGAGGAGGAAGAAGAGGAGGAAGAAGAGGAGAGAAAGGAGGAGGAAGAAAA | N | 0.0338137149811 | intergenic | ||||||||||||||||
chr8 | 21940121 | 21940121 | T | G | rs1872224 | N | 3.57628859859e-09 | 0.897364 | downstream | DMTN | HEL | cerebral cortex | |||||||||||
chr8 | 21940818 | 21940818 | G | A | rs6557784 | N | 5.3149510677e-06 | 0.738618 | downstream | DMTN | HEL | cerebral cortex | |||||||||||
chr8 | 26722992 | 26723003 | GGTTGGGTAGCG | GG | N | 0.268242955208 | 5-UTR | ADRA1A | NM_001322503 NM_033303 NM_001322502 NM_033302 NM_033304 NM_000680 NM_001322504 | adrenergic receptor, alpha 1a | U-2-OS | liver | |||||||||||
chr8 | 26723006 | 26723017 | GCGCTACAGGTT | TCT | N | 0.0268783215433 | 5-UTR | ADRA1A | NM_001322503 NM_033303 NM_001322502 NM_033302 NM_033304 NM_000680 NM_001322504 | adrenergic receptor, alpha 1a | U-2-OS | liver | |||||||||||
chr8 | 30623996 | 30623996 | T | C | rs2956016 | N | 5.22957996907e-08 | 0.979433 | 3-UTR | UBXN8 | NM_001282189 NM_001282199 NM_005671 | UBX domain protein 8 | |||||||||||
chr8 | 36134848 | 36134848 | C | T | rs55884086 | N | 3.59092496183e-07 | 0.697883 | intergenic | ||||||||||||||
chr8 | 39331447 | 39331447 | C | T | rs62510460 | N | 0.00023288858938 | 0.264377 | ncRNA | ADAM3A | |||||||||||||
chr8 | 40259573 | 40259573 | C | G | rs210884 | N | 5.06302276335e-05 | 0.267971 | intergenic | ||||||||||||||
chr8 | 40259598 | 40259598 | C | T | rs57480539 | N | 0.000107727129944 | 0.217652 | intergenic | ||||||||||||||
chr8 | 40259876 | 40259876 | C | T | rs12679419 | N | 0.000222130445763 | 0.216054 | intergenic | ||||||||||||||
chr8 | 40259958 | 40259958 | G | A | rs35401145 | N | 0.000178851536475 | 0.228634 | intergenic | ||||||||||||||
chr8 | 41386620 | 41386620 | G | T | rs3808638 | N | 0.486632794142 | 0.101038 | upstream | GINS4 | GINS complex subunit 4 (Sld5 homolog) | WM-115 | lymph node | ||||||||||
chr8 | 41508168 | 41508168 | A | C | rs6981607 | N | 3.53572613676e-05 | 0.589457 | intergenic | ||||||||||||||
chr8 | 43234194 | 43234194 | T | C | rs2020394 | N | 2.17132836156e-07 | 0.821486 | intergenic | ||||||||||||||
chr8 | 47996957 | 47996957 | C | T | rs1846505 | N | 1.81874952432e-06 | 0.648762 | intergenic | ||||||||||||||
chr8 | 55435931 | 55435931 | A | G | rs7840175 | N | 2.09796985473e-06 | 0.679912 | intergenic | ||||||||||||||
chr8 | 57135889 | 57135889 | T | C | rs6984782 | N | 3.50338741555e-05 | 0.214257 | intergenic | ||||||||||||||
chr8 | 6699486 | 6699486 | C | G | rs2951830 | N | 1.02658441392e-06 | 0.327077 | ncRNA | GS1-24F4.2 | |||||||||||||
chr8 | 70041707 | 70041707 | T | C | rs10090741 | N | 3.01085614773e-11 | 0.890176 | intergenic | ||||||||||||||
chr8 | 72691504 | 72691504 | C | T | rs13281926 | N | 3.67712971183e-07 | 0.907548 | intergenic | ||||||||||||||
chr8 | 81262544 | 81262544 | C | T | rs62517192 | N | 5.18492424817e-06 | 0.4375 | intergenic | ||||||||||||||
chr8 | 8997975 | 8997975 | G | A | rs13264959 | D | 0.976458013058 | 0.0177716 | 3-UTR | PPP1R3B | NM_024607 NM_001201329 | protein phosphatase 1, regulatory (inhibitor) subunit 3B | BEWO | liver | |||||||||
chr8 | 90424729 | 90424729 | G | A | rs11777120 | N | 5.25322785272e-10 | 0.988818 | intergenic | ||||||||||||||
chr8 | 96047806 | 96047826 | TAAAAAAAAAAAAATACCACT | TAAAAAAAAAAAAAATACCACT | D | 0.997671425343 | intronic | NDUFAF6 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 | U-698 | thyroid gland | ||||||||||||
chr8 | 97173484 | 97173484 | T | C | rs2245091 | N | 0.000966396473814 | 0.271965 | upstream | GDF6 | BEWO | placenta | |||||||||||
chr8 | 98787930 | 98787950 | GTGCTTGGAGCTCCAGCAGCT | GTGCTTGGAGCTCCAGCAGCTGCTTGGAGCTCCAGCAGCT | N | 0.486632794142 | 5-UTR | LAPTM4B | NM_018407 | lysosomal-associated protein transmembrane 4B | HEL | heart muscle | |||||||||||
chr9 | 100087345 | 100087345 | A | G | rs3747496 | N | 1.74523584473e-09 | 0.598043 | synonymous SNV | CCDC180 | NM_020893 | 14 | 1548 | 516 | S=>S | U-266/70 | testis | ||||||
chr9 | 100092968 | 100092987 | AGAGGAGGAGGAGGAGAAGC | AGAGGAGGAGGAGGAGGAGGAGAAGC | N | 0.000660509162117 | nonframeshift substitution | CCDC180 | NM_020893 | 18 | 2325 | U-266/70 | testis | ||||||||||
chr9 | 100132194 | 100132194 | C | A | rs2169456 | N | 8.01962514174e-08 | 0.579673 | ncRNA | LOC100499484-C9ORF174 | |||||||||||||
chr9 | 100843417 | 100843417 | A | G | rs4237190 | N | 1.26032102798e-06 | 0.653554 | intronic | NANS | SK-BR-3 | colon | |||||||||||
chr9 | 101748234 | 101748234 | G | A | rs2075662 | N | 5.83659448239e-06 | 0.244808 | N | N | N | N | nonsynonymous SNV | COL15A1 | NM_001855 | 3 | 488 | 163 | R=>H | collagen, type XV, alpha 1 | U-2197 | placenta | |
chr9 | 101832263 | 101832280 | GTTTTTTTTTTTTACTAC | GGTTTTTTTTTTTTTACTAC | N | 0.121702454984 | 3-UTR | COL15A1 | NM_001855 | collagen, type XV, alpha 1 | U-2197 | placenta | |||||||||||
chr9 | 104161154 | 104161154 | C | A | rs2253258 | N | 0.486632794142 | 0.88119 | 5-UTR | ZNF189 | NM_001278231 NM_001278232 NM_001278240 NM_003452 NM_197977 | RH-30 | gallbladder | ||||||||||
chr9 | 106761709 | 106761709 | A | C | rs628605 | N | 1.58181814869e-10 | 0.98722 | upstream | LOC101928523 | |||||||||||||
chr9 | 111929420 | 111929421 | CG | GC | N | 0.486632794142 | exonic | FRRS1L | |||||||||||||||
chr9 | 115866704 | 115866704 | C | G | rs6477985 | N | 1.91434210706e-07 | 0.839657 | downstream | FAM225B | |||||||||||||
chr9 | 115913145 | 115913145 | T | C | rs4602967 | N | 0.0374681763351 | 0.777356 | upstream | SLC31A2 | solute carrier family 31, member 2 | HaCaT | salivary gland | ||||||||||
chr9 | 116192592 | 116192592 | A | G | rs818715 | N | 1.26381308196e-10 | 0.996805 | downstream | C9orf43 | SiHa | testis | |||||||||||
chr9 | 123150453 | 123150453 | A | G | rs4836819 | N | 1.06795550181e-08 | 0.682109 | downstream | CDK5RAP2 | CDK5 regulatory subunit associated protein 2 | RH-30 | testis | ||||||||||
chr9 | 127956061 | 127956061 | A | G | rs12238347 | N | 0.000450677180197 | 0.0473243 | intergenic | ||||||||||||||
chr9 | 130668278 | 130668278 | T | A | rs2094333 | N | 9.80363217635e-15 | 0.759984 | upstream | ST6GALNAC6 | HDLM-2 | colon | |||||||||||
chr9 | 130742834 | 130742834 | T | G | rs113481265 | N | 0.16609582305 | 0.751797 | upstream | FAM102A | family with sequence similarity 102, member A | A-549 | stomach | ||||||||||
chr9 | 132805814 | 132805814 | T | G | rs7037717 | N | 0.0744350254536 | 0.965855 | upstream | FNBP1 | formin binding protein 1 | MOLT-4 | lymph node | ||||||||||
chr9 | 132806941 | 132806941 | A | G | rs2417174 | N | 2.03827039513e-06 | 0.963858 | intergenic | ||||||||||||||
chr9 | 132887249 | 132887268 | TAAAAAAAAAAAAAATCCTC | TAAAAAAAAAAAAATCCTC | N | 0.132149532437 | intronic | GPR107 | G protein-coupled receptor 107 | HaCaT | thyroid gland | ||||||||||||
chr9 | 135972557 | 135972557 | A | G | rs581854 | N | 5.5169881108e-08 | 0.830272 | downstream | RALGDS | ral guanine nucleotide dissociation stimulator | HDLM-2 | skin | ||||||||||
chr9 | 136080416 | 136080416 | A | G | rs9411462 | N | 3.97679241967e-12 | 0.980831 | downstream | OBP2B | odorant binding protein 2B | RPMI-8226 | testis | ||||||||||
chr9 | 136208193 | 136208193 | T | C | rs622415 | N | 4.00153608165e-12 | 0.916733 | 3-UTR | MED22 | NM_133640 NM_181491 | mediator complex subunit 22 | REH | ovary | |||||||||
chr9 | 137735232 | 137735241 | GCTATCTATC | GCTATC | N | 0.343778967857 | ncRNA | LOC101448202 | |||||||||||||||
chr9 | 138853386 | 138853386 | T | C | rs6537922 | N | 0.486632794142 | 0.986022 | upstream | UBAC1 | ubiquitin associated domain containing 1 | K-562 | bone marrow | ||||||||||
chr9 | 139622866 | 139622866 | A | G | rs9411222 | N | 0.486632794142 | 0.756589 | upstream | SNHG7 | |||||||||||||
chr9 | 139776194 | 139776194 | G | C | rs3739943 | N | 8.08198877369e-22 | 0.772963 | intergenic | ||||||||||||||
chr9 | 139870090 | 139870090 | C | T | rs3814500 | N | 9.99101111088e-14 | 0.714257 | intergenic | ||||||||||||||
chr9 | 140004959 | 140004959 | C | T | rs6420281 | N | 7.33652097407e-11 | 0.804113 | downstream | DPP7 | dipeptidylpeptidase 7 | RPMI-8226 | spleen | ||||||||||
chr9 | 140085210 | 140085210 | G | C | rs67506437 | N | 7.1343530042e-12 | 0.266374 | downstream | SSNA1 TPRN | |||||||||||||
chr9 | 140144732 | 140144732 | A | G | rs1133439 | N | 6.53079312851e-10 | 0.852835 | ncRNA | C9orf173-AS1 | |||||||||||||
chr9 | 14612188 | 14612188 | T | G | rs1143025 | N | 2.58709842456e-05 | 0.315695 | 3-UTR | ZDHHC21 | NM_178566 | HEL | esophagus | ||||||||||
chr9 | 16412718 | 16412765 | GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC | GGAGAGAGAGAGAGAGAGAGAC | N | 0.00384630542248 | 3-UTR | BNC2 | NM_017637 NM_001317940 NM_001317939 | basonuclin 2 | Karpas-707 | ovary | |||||||||||
chr9 | 20332699 | 20332699 | A | G | rs178607 | N | 1.95185663188e-08 | 0.994209 | intergenic | ||||||||||||||
chr9 | 21032203 | 21032203 | A | G | rs10738576 | N | 5.21714290692e-13 | 0.974641 | upstream | HACD4 | |||||||||||||
chr9 | 27297656 | 27297656 | G | A | rs10116338 | N | 9.13613629194e-09 | 0.832268 | upstream | EQTN | equatorin, sperm acrosome associated | BEWO | testis | ||||||||||
chr9 | 33103427 | 33103427 | C | G | rs546688 | N | 0.000231678917771 | 0.433506 | intergenic | ||||||||||||||
chr9 | 34366134 | 34366134 | A | C | rs4879779 | N | 6.18591457169e-07 | 0.773762 | downstream | KIAA1161 | SK-BR-3 | duodenum | |||||||||||
chr9 | 37753709 | 37753709 | T | C | rs7847996 | N | 0.0176478195935 | 0.995807 | upstream | TRMT10B | tRNA methyltransferase 10 homolog B (S. cerevisiae) | HL-60 | ovary | ||||||||||
chr9 | 38407090 | 38407091 | CT | TC | N | 4.65632666646e-07 | 3-UTR | IGFBPL1 | NM_001007563 | insulin-like growth factor binding protein-like 1 | SCLC-21H | thyroid gland | |||||||||||
chr9 | 38620366 | 38620386 | TCCGCGATCTCCCCCGCAACC | TC | N | 0.319996476173 | upstream | ANKRD18A FAM201A | |||||||||||||||
chr9 | 38620366 | 38620386 | TCCGCGATCTCCCCCGCAACC | TCCGCGATCCCCCCCGCAACC | N | 0.217867955565 | upstream | ANKRD18A FAM201A | |||||||||||||||
chr9 | 42438220 | 42438220 | T | C | rs1111028 | N | 0.000756075023673 | intergenic | |||||||||||||||
chr9 | 43066620 | 43066620 | G | T | rs4929402 | N | 8.3874372649e-05 | intergenic | |||||||||||||||
chr9 | 43066801 | 43066801 | G | A | rs2218955 | N | 0.00195105781313 | intergenic | |||||||||||||||
chr9 | 45363394 | 45363394 | T | G | rs4913217 | N | 1.81219002116e-05 | 0.599241 | intergenic | ||||||||||||||
chr9 | 45729172 | 45729172 | G | T | rs62556706 | D | 0.999886155128 | intergenic | |||||||||||||||
chr9 | 45729178 | 45729178 | T | A | rs62556707 | D | 0.999664902687 | intergenic | |||||||||||||||
chr9 | 45729226 | 45729226 | G | A | rs62556708 | D | 0.999405384064 | intergenic | |||||||||||||||
chr9 | 5720172 | 5720172 | C | G | rs10758700 | N | 2.00603736289e-07 | 0.495208 | intronic | RIC1 | |||||||||||||
chr9 | 67335129 | 67335129 | T | C | rs4929654 | N | 2.18325430978e-06 | 0.986422 | downstream | LOC102724580 | |||||||||||||
chr9 | 67791288 | 67791288 | G | C | rs36140591 | D | 1.0 | intergenic | |||||||||||||||
chr9 | 67791423 | 67791423 | C | G | rs112591433 | D | 1.0 | intergenic | |||||||||||||||
chr9 | 68410520 | 68410526 | CGTCTGT | TGTCTGTGT | N | 0.000456925277831 | intergenic | ||||||||||||||||
chr9 | 68412896 | 68412897 | CT | CC | D | 0.828700363636 | intergenic | ||||||||||||||||
chr9 | 68412896 | 68412897 | CT | TC | D | 0.828700363636 | intergenic | ||||||||||||||||
chr9 | 68413415 | 68413418 | TGCA | AGCG | N | 0.486632794142 | intergenic | ||||||||||||||||
chr9 | 68413415 | 68413418 | TGCA | CGCG | N | 0.486632794142 | intergenic | ||||||||||||||||
chr9 | 68415064 | 68415065 | TC | CA | D | 1.0 | upstream,downstream | MIR4477B;MIR4477A | |||||||||||||||
chr9 | 68415064 | 68415065 | TC | TA | D | 1.0 | upstream,downstream | MIR4477B;MIR4477A | |||||||||||||||
chr9 | 68415838 | 68415838 | A | G | rs79907211 | D | 1.0 | upstream,downstream | MIR4477A;MIR4477B | ||||||||||||||
chr9 | 68415937 | 68415945 | GTGGTAAGT | TTCGTGAGG | D | 1.0 | upstream,downstream | MIR4477A;MIR4477B | |||||||||||||||
chr9 | 68415937 | 68415945 | GTGGTAAGT | TTGGTAAGG | D | 1.0 | upstream,downstream | MIR4477A;MIR4477B | |||||||||||||||
chr9 | 68416029 | 68416036 | ATAACTAA | CTAATTAA | D | 1.0 | upstream,downstream | MIR4477A;MIR4477B | |||||||||||||||
chr9 | 68416029 | 68416036 | ATAACTAA | CTAATTAT | D | 1.0 | upstream,downstream | MIR4477A;MIR4477B | |||||||||||||||
chr9 | 69180084 | 69180084 | T | C | N | 0.013135981746 | ncRNA | LOC440896 | |||||||||||||||
chr9 | 69451885 | 69451885 | T | A | rs4143374 | N | 0.0019093042938 | intergenic | |||||||||||||||
chr9 | 71629117 | 71629117 | C | T | rs12555211 | N | 5.49346350454e-06 | 0.324681 | upstream | PRKACG | A-431 | testis | |||||||||||
chr9 | 72374969 | 72374969 | T | C | rs2252130 | N | 0.486632794142 | 0.891573 | upstream | PTAR1 | protein prenyltransferase alpha subunit repeat containing 1 | WM-115 | bone marrow | ||||||||||
chr9 | 73736531 | 73736531 | C | T | rs59612871 | N | 6.69914061291e-06 | 0.0942492 | upstream | TRPM3 | transient receptor potential cation channel, subfamily M, member 3 | TIME | kidney | ||||||||||
chr9 | 74980199 | 74980223 | CCGGCGGCGGCGGCGGCGGCGGGGA | CCGGCGGCGGCGGCGGCGGGGA | N | 0.486632794142 | upstream | ZFAND5 | zinc finger, AN1-type domain 5 | HDLM-2 | adipose tissue | ||||||||||||
chr9 | 77643519 | 77643519 | C | G | rs719507 | N | 0.139269277453 | 0.746805 | upstream | CARNMT1 | |||||||||||||
chr9 | 78808329 | 78808337 | GAAAAAAGC | GAAAAAAAAAAGC | N | 0.117762081325 | 3-UTR | PCSK5 | NM_006200 | proprotein convertase subtilisin/kexin type 5 | HaCaT | small intestine | |||||||||||
chr9 | 79608272 | 79608272 | C | T | rs10781405 | N | 4.59443690488e-05 | 0.397564 | intergenic | ||||||||||||||
chr9 | 85817037 | 85817059 | CAAAAAAAAAAGAAAAACCACCC | CAAAAAAAAAAAGAAAAACCACCC | N | 0.0052143689245 | intergenic | ||||||||||||||||
chr9 | 88420602 | 88420606 | TCCTA | GCCTC | N | 0.103743523359 | upstream | LOC389765 | |||||||||||||||
chr9 | 88420602 | 88420606 | TCCTA | TCCTC | N | 0.103743523359 | upstream | LOC389765 | |||||||||||||||
chr9 | 92219921 | 92219921 | A | C | rs3138499 | N | 0.486632794142 | 0.410743 | upstream | GADD45G | HDLM-2 | liver | |||||||||||
chr9 | 93345047 | 93345047 | A | G | rs689720 | N | 1.41194549386e-08 | 0.68111 | upstream | LINC01501 | |||||||||||||
chr9 | 93837853 | 93837853 | G | A | rs177039 | N | 3.53088435077e-05 | 0.452875 | upstream | LOC100129316 | |||||||||||||
chr9 | 95570876 | 95570876 | C | T | rs1830693 | N | 0.000170055529452 | 0.969649 | upstream | LOC101929748 | |||||||||||||
chr9 | 95858077 | 95858077 | C | G | rs115317746 | N | 0.0447296276689 | upstream | CARD19 | ||||||||||||||
chr9 | 95874428 | 95874428 | G | A | rs10821071 | N | 0.000278444291325 | 0.452276 | intronic | CARD19 | |||||||||||||
chr9 | 98691137 | 98691137 | T | C | rs2274654 | N | 0.173482909799 | 0.227037 | D | D | D | N | nonsynonymous SNV | ERCC6L2 | NM_001010895 NM_020207 | 11,11 | 1775,1775 | 592,592 | V=>A,V=>A | RH-30 | thyroid gland | ||
chr9 | 99122511 | 99122532 | TAAAAAAAAAAGAAGAAATATT | TAAAAAAAAAAAGAAGAAATATT | N | 0.444748193026 | intronic | SLC35D2 | solute carrier family 35, member D2 | Hep-G2 | small intestine | ||||||||||||
chr9 | 99154525 | 99154525 | C | T | rs35592391 | N | 0.281735479832 | 0.0219649 | intronic | ZNF367 | RH-30 | bone marrow |