Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut SPATA4 132851 broad.mit.edu 37 4 177113947 177113947 + Missense_Mutation SNP C C A TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr4:177113947C>A ENST00000280191.2 - 4 627 c.519G>T c.(517-519)caG>caT p.Q173H SPATA4_ENST00000515234.1_5'UTR NM_144644.2 NP_653245.2 Q8NEY3 SPAT4_HUMAN spermatogenesis associated 4 173 apoptosis|spermatogenesis NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10) 22 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096) GTAAACGCATCTGGTAGCTAT 0.353000 9 41 5.4927e-09 5.93806e-09 1 1 0 DHFR 1719 broad.mit.edu 37 5 79945214 79945214 + Missense_Mutation SNP T T C TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr5:79945214T>C ENST00000439211.2 - 3 729 c.236A>G c.(235-237)gAa>gGa p.E79G DHFR_ENST00000511032.1_Missense_Mutation_p.E79G|DHFR_ENST00000505337.1_Missense_Mutation_p.E79G|DHFR_ENST00000504396.1_Missense_Mutation_p.E27G|DHFR_ENST00000513048.1_5'UTR NM_000791.3 NP_000782.1 P00374 DYR_HUMAN dihydrofolate reductase 79 DHFR. folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process cytosol dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding kidney(1)|large_intestine(1) 2 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35) Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157) TTACTTGAGTTCTCTGCTGAG 0.348000 4 27 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112600941 112600941 + Missense_Mutation SNP C C T TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr12:112600941C>T ENST00000550722.1 - 75 12982 c.12587G>A c.(12586-12588)cGc>cAc p.R4196H HECTD4_ENST00000430131.2_Missense_Mutation_p.R3920H|HECTD4_ENST00000377560.5_Missense_Mutation_p.R4170H NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 p.R4170H(1)|p.R3920H(1) GAACGGGATGCGCTCCTGGTT 0.612000 4 166 0 0 1 0 0 GALR2 8811 broad.mit.edu 37 17 74071243 74071243 + Silent SNP C C T TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr17:74071243C>T ENST00000329003.3 + 1 369 c.279C>T c.(277-279)ttC>ttT p.F93F NM_003857.2 NP_003848.1 O43603 GALR2_HUMAN galanin receptor 2 93 digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 GCTGGGTGTTCGGCTCGCTGC 0.632000 11 101 0 0 1 0 0 APBB2 323 broad.mit.edu 37 4 40818255 40818255 + Missense_Mutation SNP C C A TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr4:40818255C>A ENST00000295974.8 - 18 2760 c.2131G>T c.(2131-2133)Gta>Tta p.V711L APBB2_ENST00000504305.1_Missense_Mutation_p.V163L|APBB2_ENST00000513140.1_Missense_Mutation_p.V689L|APBB2_ENST00000508593.1_Missense_Mutation_p.V712L|APBB2_ENST00000506352.1_Missense_Mutation_p.V690L|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000543538.1_Missense_Mutation_p.V163L|APBB2_ENST00000502841.1_Missense_Mutation_p.V163L NM_001166050.1|NM_004307.1 NP_001159522.1|NP_004298.1 Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 711 PID 2. cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 GGCCTGGCTACCAAGCACTTC 0.403000 18 98 5.03518e-11 5.7545e-11 1 1 0 SHANK1 50944 broad.mit.edu 37 19 51190015 51190015 + Missense_Mutation SNP T T C TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr19:51190015T>C ENST00000293441.1 - 19 2462 c.2444A>G c.(2443-2445)tAt>tGt p.Y815C SHANK1_ENST00000391814.1_Missense_Mutation_p.Y823C|SHANK1_ENST00000391813.1_Missense_Mutation_p.Y202C|SHANK1_ENST00000359082.3_Missense_Mutation_p.Y806C NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 815 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) AGCCATCTGATACACGGTCCG 0.687000 4 55 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262039 39262039 + Missense_Mutation SNP C C G TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr17:39262039C>G ENST00000391415.1 + 1 456 c.399C>G c.(397-399)agC>agG p.S133R NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 133 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament p.S133R(1)|p.S121R(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 gtgtgtccagctgctgcaagc 0.652000 3 39 0 0 1 0 0 SLC45A1 50651 broad.mit.edu 37 1 8399632 8399632 + Silent SNP C C A rs140511753 TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr1:8399632C>A ENST00000471889.1 + 8 2239 c.1854C>A c.(1852-1854)acC>acA p.T618T SLC45A1_ENST00000377479.2_Silent_p.T652T|SLC45A1_ENST00000289877.8_Silent_p.T618T Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 618 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GCCTGGGGACCGGGCTTGCCA 0.597000 4 164 0.150653 0.150653 1 1 0 CROCCP3 0 broad.mit.edu 37 1 16812982 16812982 + RNA SNP A A C rs139388756 by1000genomes TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr1:16812982A>C ENST00000263511.4 - 0 1329 NR_023386.1 AGGTCCTTCTAGTGGAGCACC 0.667000 4 7 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123875999 123875999 + Missense_Mutation SNP G G A TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr9:123875999G>A ENST00000373855.1 + 10 1602 c.1342G>A c.(1342-1344)Gca>Aca p.A448T CNTRL_ENST00000238341.5_Missense_Mutation_p.A448T|CNTRL_ENST00000373865.2_Missense_Mutation_p.A448T Q7Z7A1 CNTRL_HUMAN centriolin 448 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 AAAAATAAGTGCAGGttaaaa 0.308000 8 34 0 0 1 0 0 PCDHA7 0 broad.mit.edu 37 5 140215321 140215321 + Silent SNP C C T TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr5:140215321C>T ENST00000525929.1 + 1 1353 c.1353C>T c.(1351-1353)aaC>aaT p.N451N PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.N451N NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAACGACAACGCCCCGGCGT 0.677000 25 147 0 0 1 0 0 PDE9A 5152 broad.mit.edu 37 21 44190886 44190886 + Missense_Mutation SNP G G A rs150892798 byFrequency TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr21:44190886G>A ENST00000291539.6 + 18 1724 c.1664G>A c.(1663-1665)cGg>cAg p.R555Q PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Missense_Mutation_p.R428Q|PDE9A_ENST00000398227.3_Missense_Mutation_p.R395Q|PDE9A_ENST00000398225.3_Missense_Mutation_p.R514Q|PDE9A_ENST00000335512.4_Missense_Mutation_p.R495Q|PDE9A_ENST00000398229.3_Missense_Mutation_p.R421Q|PDE9A_ENST00000539837.1_Missense_Mutation_p.R427Q|PDE9A_ENST00000398232.3_Missense_Mutation_p.R488Q|PDE9A_ENST00000380328.2_Missense_Mutation_p.R502Q|PDE9A_ENST00000398234.3_Missense_Mutation_p.R454Q|PDE9A_ENST00000335440.6_Missense_Mutation_p.R453Q|PDE9A_ENST00000328862.6_Missense_Mutation_p.R529Q|PDE9A_ENST00000349112.3_Missense_Mutation_p.R427Q|PDE9A_ENST00000398236.3_Missense_Mutation_p.R469Q NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 555 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 GAGCTGAAGCGGATAGATGAC 0.557000 3 70 0 0 1 0 0 KCNIP1 0 broad.mit.edu 37 5 170159832 170159832 + Missense_Mutation SNP A A G TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr5:170159832A>G ENST00000328939.4 + 6 1001 c.464A>G c.(463-465)tAt>tGt p.Y155C KCNIP1_ENST00000377360.4_Missense_Mutation_p.Y164C|KCNIP1_ENST00000411494.1_Missense_Mutation_p.Y166C|KCNIP1_ENST00000434108.1_Missense_Mutation_p.Y180C|KCNIP1_ENST00000390656.4_Missense_Mutation_p.Y155C|KCNIP1_ENST00000520740.1_Missense_Mutation_p.Y127C NM_001034837.1|NM_014592.2 NP_001030009.1|NP_055407.1 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 166 EF-hand 3. detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAAGCCATCTATGACATGATG 0.488000 12 90 0 0 1 0 0 UTP23 84294 broad.mit.edu 37 8 117783984 117783984 + Missense_Mutation SNP A A G TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr8:117783984A>G ENST00000309822.2 + 3 754 c.653A>G c.(652-654)cAa>cGa p.Q218R UTP23_ENST00000517820.1_Intron|UTP23_ENST00000357148.3_Intron|UTP23_ENST00000520733.1_Intron NM_032334.2 NP_115710.2 Q9BRU9 UTP23_HUMAN UTP23, small subunit (SSU) processome component, homolog (yeast) 218 rRNA processing nucleolus breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 12 CCGGACACACAATCATCTGCT 0.368000 8 66 0 0 1 0 0 AZGP1 563 broad.mit.edu 37 7 99565785 99565785 + Silent SNP G G A TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr7:99565785G>A ENST00000411734.1 - 3 602 c.597C>T c.(595-597)gaC>gaT p.D199D AZGP1_ENST00000292401.4_Silent_p.D202D P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc-binding 202 antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation extracellular region|MHC class I protein complex fatty acid binding|protein transmembrane transporter activity|ribonuclease activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1) 16 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) TACCTTGCCGGTCCAGGATAT 0.537000 12 80 0 0 1 0 0 CCDC53 51019 broad.mit.edu 37 12 102433745 102433745 + Silent SNP T T C TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr12:102433745T>C ENST00000240079.6 - 5 497 c.336A>G c.(334-336)acA>acG p.T112T CCDC53_ENST00000545679.1_Silent_p.T111T|CCDC53_ENST00000539515.1_5'UTR NM_016053.2 NP_057137.1 Q9Y3C0 CCD53_HUMAN coiled-coil domain containing 53 112 WASH complex protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 CAGAGTCTTGTGTACTGTTCT 0.358000 12 67 0 0 1 0 0 MATN2 4147 broad.mit.edu 37 8 98943235 98943235 + Missense_Mutation SNP G G A TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr8:98943235G>A ENST00000254898.5 + 3 428 c.197G>A c.(196-198)cGc>cAc p.R66H MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Missense_Mutation_p.R66H|MATN2_ENST00000521689.1_Missense_Mutation_p.R66H|MATN2_ENST00000520016.1_Missense_Mutation_p.R66H NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 66 VWFA 1. proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) GACAGCTCTCGCAGTGTCAAC 0.507000 3 35 0 0 1 0 0 PIK3R1 5295 broad.mit.edu 37 5 67591287 67591287 + Silent SNP C C T TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr5:67591287C>T ENST00000521381.1 + 14 2401 c.1785C>T c.(1783-1785)aaC>aaT p.N595N PIK3R1_ENST00000523872.1_Silent_p.N232N|PIK3R1_ENST00000336483.5_Silent_p.N325N|PIK3R1_ENST00000396611.1_Silent_p.N595N|PIK3R1_ENST00000274335.5_Silent_p.N595N|PIK3R1_ENST00000320694.8_Silent_p.N295N|PIK3R1_ENST00000521657.1_Silent_p.N595N NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 595 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.M582_D605>I(4)|p.Y580fs*1(1)|p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) AGAAGTTGAACGAGTGGTTGG 0.368000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 5 71 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 4 86 0 0 1 0 0 KIAA1715 80856 broad.mit.edu 37 2 176804298 176804298 + Missense_Mutation SNP C C A TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr2:176804298C>A ENST00000272748.4 - 10 1041 c.794G>T c.(793-795)gGt>gTt p.G265V KIAA1715_ENST00000544803.1_Missense_Mutation_p.G296V|KIAA1715_ENST00000535310.1_Missense_Mutation_p.G190V NM_030650.1 NP_085153.1 Q9C0E8 LNP_HUMAN KIAA1715 265 integral to membrane protein binding endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) TGGACCATCACCAACCAAATA 0.378000 4 27 0.00909568 0.0093289 1 1 0 HERC2 8924 broad.mit.edu 37 15 28478677 28478677 + Missense_Mutation SNP C C T TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr15:28478677C>T ENST00000261609.7 - 29 4490 c.4382G>A c.(4381-4383)gGt>gAt p.G1461D NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1461 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ACCAAGTGCACCTGCATGAAC 0.423000 15 79 0 0 1 0 0 FBXW7 0 broad.mit.edu 37 4 153244092 153244092 + Missense_Mutation SNP G G A TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr4:153244092G>A ENST00000281708.4 - 12 3294 c.2065C>T c.(2065-2067)Cgg>Tgg p.R689W FBXW7_ENST00000296555.5_Missense_Mutation_p.R571W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R513W|FBXW7_ENST00000603548.1_Missense_Mutation_p.R689W|FBXW7_ENST00000263981.5_Missense_Mutation_p.R609W|FBXW7_ENST00000603841.1_Missense_Mutation_p.R689W NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 689 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R689W(10)|p.R450W(3)|p.R609W(3)|p.R571W(1)|p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) GTCCCATTCCGACTCCCAACT 0.478000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 22 121 0 0 1 0 0 LPPR5 0 broad.mit.edu 37 1 99380375 99380375 + Silent SNP T T C TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr1:99380375T>C ENST00000370188.3 - 5 1260 c.900A>G c.(898-900)gtA>gtG p.V300V LPPR5_ENST00000263177.4_Silent_p.V300V NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 300 integral to membrane hydrolase activity AAGGACTTTCTACTCGAGGAA 0.353000 6 86 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53855012 53855012 + Missense_Mutation SNP A A G TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr19:53855012A>G ENST00000458035.1 + 4 1201 c.1084A>G c.(1084-1086)Aaa>Gaa p.K362E ZNF845_ENST00000595091.1_Missense_Mutation_p.K362E NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AGAATGTGACAAAGCTTTCAG 0.388000 3 57 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50776664 50776664 + Missense_Mutation SNP G G A TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr20:50776664G>A ENST00000216923.4 - 5 1110 c.761C>T c.(760-762)aCg>aTg p.T254M ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000346617.4_Missense_Mutation_p.T200M|ZFP64_ENST00000371518.2_Missense_Mutation_p.T254M|ZFP64_ENST00000361387.2_Missense_Mutation_p.T254M|ZFP64_ENST00000371515.4_Missense_Mutation_p.T252M NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 254 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 GGACTCACCCGTGTGGGATCG 0.532000 30 146 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129785592 129785592 + Missense_Mutation SNP G G T TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr6:129785592G>T ENST00000421865.2 + 50 7199 c.7150G>T c.(7150-7152)Gac>Tac p.D2384Y NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2384 Laminin G-like 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGCCACACGAGACCTGGTAAA 0.408000 11 122 0.00244969 0.00257863 1 1 0 BCAS4 55653 broad.mit.edu 37 20 49446838 49446838 + Missense_Mutation SNP T T A TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr20:49446838T>A ENST00000358791.5 + 3 375 c.275T>A c.(274-276)aTc>aAc p.I92N BCAS4_ENST00000262591.5_Missense_Mutation_p.I92N|BCAS4_ENST00000371608.2_Missense_Mutation_p.I92N|BCAS4_ENST00000485049.1_3'UTR NM_017843.3 NP_060313.3 Q8TDM0 BCAS4_HUMAN breast carcinoma amplified sequence 4 92 cytoplasm large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1) 6 ACTTCACAGATCCTGGAGGAA 0.532000 10 71 0 0 1 0 0 PAX6 5080 broad.mit.edu 37 11 31815030 31815030 + Missense_Mutation SNP G G A TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr11:31815030G>A ENST00000419022.1 - 12 1498 c.1030C>T c.(1030-1032)Ccg>Tcg p.P344S PAX6_ENST00000379123.5_Missense_Mutation_p.P330S|PAX6_ENST00000379115.4_Missense_Mutation_p.P344S|PAX6_ENST00000379129.2_Missense_Mutation_p.P344S|PAX6_ENST00000241001.8_Missense_Mutation_p.P330S|PAX6_ENST00000379132.3_Missense_Mutation_p.P330S|PAX6_ENST00000379107.2_Missense_Mutation_p.P344S|PAX6_ENST00000379111.2_Missense_Mutation_p.P330S NM_001127612.1|NM_001258462.1|NM_001258463.1 NP_001121084.1|NP_001245391.1|NP_001245392.1 P26367 PAX6_HUMAN paired box 6 330 Pro/Ser/Thr-rich. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) GGCATAGGCGGCAGAGCGCTG 0.557000 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 4 171 0 0 1 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6094277 6094277 + Missense_Mutation SNP G G T TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr7:6094277G>T ENST00000199389.6 - 2 323 c.177C>A c.(175-177)ttC>ttA p.F59L EIF2AK1_ENST00000536084.1_5'UTR NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 59 negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) CTGCAAAAGGGAAGGTTGGCT 0.398000 22 119 5.35356e-11 5.9484e-11 1 1 0 F8 2157 broad.mit.edu 37 X 154130442 154130442 + Splice_Site SNP C C T TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chrX:154130442C>T ENST00000360256.4 - 19 6199 c.5998_splice c.e19-1 p.G2000_splice NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 2000 F5/8 type A 3.|Plastocyanin-like 6. G -> A (in HEMA; moderate-severe). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CTCAAAAACACCTTATAAAAA 0.378000 17 25 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G G A TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr18:9887074G>A ENST00000306084.6 + 2 797 c.598G>A c.(598-600)Gaa>Aaa p.E200K TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K|TXNDC2_ENST00000536353.2_Intron NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAGAAGCCATCCA 0.577000 5 294 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179477176 179477176 + Silent SNP G G A TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr2:179477176G>A ENST00000589042.1 - 266 50300 c.50076C>T c.(50074-50076)gaC>gaT p.D16692D TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.D7627D|TTN_ENST00000342992.6_Silent_p.D14124D|TTN_ENST00000342175.6_Silent_p.D7819D|TTN_ENST00000359218.5_Silent_p.D7752D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.D15051D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15051 Fibronectin type-III 21. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCGCCTGACGTCTCTCTTTT 0.458000 3 28 0 0 1 0 0 CYP4Z2P 0 broad.mit.edu 37 1 47310359 47310360 + RNA INS - - T TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr1:47310359_47310360insT ENST00000505841.1 - 0 1269 NR_002788.2 CAAAAACAAAACCCTAGATATT 0.421 5 9 --- --- --- --- PMS2P4 0 broad.mit.edu 37 7 66762433 66762433 + RNA DEL A A - rs68053451 TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr7:66762433delA ENST00000414507.1 - 0 184 tctcaaaaagaaaaaaaaaaa 0.408 5 8 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89720803 89720804 + Frame_Shift_Ins INS - - A rs146650273 TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr10:89720803_89720804insA ENST00000371953.3 + 8 2311_2312 c.954_955insA c.(952-957)ctctttfs p.F319fs PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 319 C2 tensin-type. Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.L318fs*2(27)|p.T319fs*1(24)|p.T319fs*6(6)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.V317fs*6(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L318fs*3(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T318fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) ATCTAGTACTTACTTTAACAAA 0.327 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 23 69 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396277 + RNA DEL G G - rs148140777 by1000genomes TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr10:118396277delG ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTT 0.423 4 2 --- --- --- --- DUSP8 1850 broad.mit.edu 37 11 1577819 1577820 + Frame_Shift_Del DEL CG CG - rs61747093 TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr11:1577819_1577820delCG ENST00000397374.3 - 7 1933_1934 c.1806_1807delCG c.(1804-1809)cggcfs p.RG602fs DUSP8_ENST00000331588.4_Frame_Shift_Del_p.RG602fs NM_004420.2 NP_004411.2 Q13202 DUS8_HUMAN dual specificity phosphatase 8 602 inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) AGCTCCTCGCCGCGCGCGCGCC 0.752 3 5 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29652974 29652974 + Frame_Shift_Del DEL T T - TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2 e7b41454-99a5-4bbc-9ac4-ca4940c19eeb g.chr17:29652974delT ENST00000358273.4 + 37 5355 c.4972delT c.(4972-4974)ttfs p.F1658fs NF1_ENST00000356175.3_Frame_Shift_Del_p.F1637fs|NF1_ENST00000581113.2_3'UTR NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1658 CRAL-TRIO. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TAAAACAGACTTTCTCTCTAA 0.418 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 22 92 --- --- --- ---