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 TRPM2 7226 broad.mit.edu 37 21 45820152 45820152 + Missense_Mutation SNP C C T TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr21:45820152C>T ENST00000397928.1 + 15 2664 c.2219C>T c.(2218-2220)aCc>aTc p.T740I TRPM2_ENST00000300482.5_Missense_Mutation_p.T740I|TRPM2_ENST00000300481.9_Missense_Mutation_p.T720I|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.T740I NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 740 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GCCTTCCTGACCAAGGTGTGG 0.662000 9 66 0 0 1 0 0 XAB2 56949 broad.mit.edu 37 19 7688089 7688089 + Silent SNP G G C TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr19:7688089G>C ENST00000358368.4 - 9 1243 c.1206C>G c.(1204-1206)gcC>gcG p.A402A XAB2_ENST00000534844.1_Silent_p.A399A NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 402 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 CATAAAACTTGGCAAACGCCA 0.547000 Direct reversal of damage;Nucleotide excision repair (NER) 28 87 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65263322 65263322 + Missense_Mutation SNP C C T TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr14:65263322C>T ENST00000389722.3 - 10 1347 c.1294G>A c.(1294-1296)Gca>Aca p.A432T SPTB_ENST00000389720.3_Missense_Mutation_p.A432T|SPTB_ENST00000556626.1_Missense_Mutation_p.A432T|SPTB_ENST00000542895.1_Missense_Mutation_p.A432T|SPTB_ENST00000389721.5_Missense_Mutation_p.A432T NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 432 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TCTCTCATTGCGGCCTTCCGG 0.597000 18 76 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21247869 21247869 + Missense_Mutation SNP T T C TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr2:21247869T>C ENST00000233242.1 - 16 2499 c.2372A>G c.(2371-2373)gAc>gGc p.D791G APOB_ENST00000399256.4_Missense_Mutation_p.D791G NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 791 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GAGCTGGAGGTCATGGAGACT 0.567000 4 77 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48758035 48758035 + Missense_Mutation SNP G G A TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr15:48758035G>A ENST00000316623.5 - 39 5223 c.4768C>T c.(4768-4770)Cct>Tct p.P1590S NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 1590 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TCCCCTCCAGGACAAAGAATT 0.348000 4 26 0 0 1 0 0 FAM120A 23196 broad.mit.edu 37 9 96214397 96214397 + Missense_Mutation SNP G G C TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr9:96214397G>C ENST00000277165.6 + 1 394 c.200G>C c.(199-201)aGc>aCc p.S67T FAM120A_ENST00000333936.5_Missense_Mutation_p.S67T|FAM120A_ENST00000375389.3_Missense_Mutation_p.S67T|FAM120A_ENST00000340893.4_Missense_Mutation_p.S67T|FAM120AOS_ENST00000375412.5_Intron NM_014612.3 NP_055427.2 Q9NZB2 F120A_HUMAN family with sequence similarity 120A 67 cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GACTGGGTCAGCGGCGGCCAG 0.701000 3 24 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76907621 76907621 + Nonsense_Mutation SNP G G A TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chrX:76907621G>A ENST00000373344.5 - 15 4754 c.4540C>T c.(4540-4542)Cga>Tga p.R1514* ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1476*|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1514 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AATTTTTCTCGCTCACGCTCC 0.428000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 36 202 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158908869 158908869 + Splice_Site SNP G G A TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr1:158908869G>A ENST00000368140.1 + 4 656 c.e4-1 PYHIN1_ENST00000368138.3_Splice_Site|PYHIN1_ENST00000368135.4_Splice_Site|PYHIN1_ENST00000392254.2_Splice_Site|PYHIN1_ENST00000392252.3_Splice_Site NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) ACTACTTGTAGAAAAGAAAAA 0.358000 4 68 0 0 1 0 0 FAR2P2 100216479 broad.mit.edu 37 2 131176692 131176692 + RNA SNP G G C TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr2:131176692G>C ENST00000424873.1 - 0 477 NR_046260.1 GATAATGGCAGGGGCCTGCTG 0.488000 3 5 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977359 29977359 + RNA SNP G G A rs3831361 by1000genomes TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr6:29977359G>A ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA ATTTGTTCATGCCTTCCCTTT 0.453000 6 59 0 0 1 0 0 SPATA18 132671 broad.mit.edu 37 4 52943076 52943076 + Missense_Mutation SNP C C T TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr4:52943076C>T ENST00000295213.4 + 7 1264 c.890C>T c.(889-891)gCg>gTg p.A297V SPATA18_ENST00000419395.2_Missense_Mutation_p.A265V NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 297 Ser-rich. mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding p.A297V(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) TCCAATGTGGCGCGCAAGGCT 0.662000 18 48 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53345048 53345048 + Missense_Mutation SNP A A T TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr19:53345048A>T ENST00000595646.1 - 4 619 c.499T>A c.(499-501)Tct>Act p.S167T ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000396409.4_Missense_Mutation_p.S114T|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.S114T Q5VIY5 ZN468_HUMAN zinc finger protein 468 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) TTGTTGATAGACTTCTCAACT 0.378000 20 119 0 0 1 0 0 KIFC1 3833 broad.mit.edu 37 6 33371133 33371133 + Missense_Mutation SNP C C A TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr6:33371133C>A ENST00000428849.2 + 4 743 c.293C>A c.(292-294)gCt>gAt p.A98D KIFC1_ENST00000486695.1_3'UTR NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 98 blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 TGTTCCACAGCTATTGCCACA 0.493000 28 60 9.80776e-20 1.09181e-19 1 1 0 SRRD 402055 broad.mit.edu 37 22 26886156 26886156 + Silent SNP T T C TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr22:26886156T>C ENST00000215917.6 + 5 770 c.756T>C c.(754-756)ctT>ctC p.L252L NM_001013694.2 NP_001013716.2 Q9UH36 SRR1L_HUMAN SRR1 domain containing 252 rhythmic process endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 TCAAAGGACTTGAGGAGAGGT 0.453000 3 42 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977358 29977358 + RNA SNP T T C rs146982767 by1000genomes TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr6:29977358T>C ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA GATTTGTTCATGCCTTCCCTT 0.448000 6 59 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112824054 112824054 + Missense_Mutation SNP C C T TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr5:112824054C>T ENST00000408903.3 - 1 473 c.58G>A c.(58-60)Ggc>Agc p.G20S NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 548 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity p.G20S(1) endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ccgctgccgccgccgccgccg 0.756000 4 10 0 0 1 0 0 N4BP1 9683 broad.mit.edu 37 16 48595979 48595979 + Missense_Mutation SNP C C T TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr16:48595979C>T ENST00000262384.3 - 2 811 c.575G>A c.(574-576)gGt>gAt p.G192D RP11-44I10.3_ENST00000563994.1_RNA NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 192 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) ATTCTCCTCACCTTGTGTGAG 0.378000 4 50 0 0 1 0 0 CLDN7 1366 broad.mit.edu 37 17 7163815 7163815 + Missense_Mutation SNP A A C TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr17:7163815A>C ENST00000360325.7 - 4 948 c.514T>G c.(514-516)Tct>Gct p.S172A CLDN7_ENST00000538261.3_Silent_p.G143G|RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000397317.4_Missense_Mutation_p.S172A NM_001307.5 NP_001298.3 O95471 CLD7_HUMAN claudin 7 172 calcium-independent cell-cell adhesion integral to membrane|lateral plasma membrane|tight junction identical protein binding|structural molecule activity p.S172A(1) kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 6 ACTAGGGCAGACCCTGCCCAG 0.572000 10 32 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74535706 74535706 + Missense_Mutation SNP T T A TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr3:74535706T>A ENST00000263665.6 - 3 286 c.259A>T c.(259-261)Att>Ttt p.I87F NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 87 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TTGGGATTAATAACCACAAGA 0.373000 4 31 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175106087 175106087 + Silent SNP G G A TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr1:175106087G>A ENST00000239462.4 + 17 3671 c.3558G>A c.(3556-3558)cgG>cgA p.R1186R NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1186 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GCAAGGAGCGGTATAAGCTGA 0.468000 8 44 0 0 1 0 0 RRP7BP 91695 broad.mit.edu 37 22 42971987 42971987 + RNA SNP T T C rs137064 by1000genomes TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr22:42971987T>C ENST00000357802.2 - 0 733 p.Q59R(1) CAGCTCTTTTTGGCTGCGCTT 0.672000 3 30 0 0 1 0 0 RAD17 5884 broad.mit.edu 37 5 68709952 68709952 + Nonsense_Mutation SNP G G T TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr5:68709952G>T ENST00000509734.1 + 18 2557 c.1879G>T c.(1879-1881)Gaa>Taa p.E627* RAD17_ENST00000345306.6_Nonsense_Mutation_p.E616*|RAD17_ENST00000504177.1_3'UTR|RAD17_ENST00000354868.5_Nonsense_Mutation_p.E616*|RAD17_ENST00000380774.3_Nonsense_Mutation_p.E627*|RAD17_ENST00000354312.3_Nonsense_Mutation_p.E616*|RAD17_ENST00000521422.1_Nonsense_Mutation_p.E451*|RAD17_ENST00000282891.6_Nonsense_Mutation_p.E530*|RAD17_ENST00000305138.4_Nonsense_Mutation_p.E616*|RAD17_ENST00000361732.2_Nonsense_Mutation_p.E616*|RAD17_ENST00000358030.2_Nonsense_Mutation_p.E451* O75943 RAD17_HUMAN RAD17 homolog (S. pombe) 627 Interaction with MCM7. cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) TTCTGCAGAGGAATCTCTGGG 0.527000 Other conserved DNA damage response genes 24 133 6.21321e-17 6.78851e-17 1 1 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 5 72 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916933 178916933 + Missense_Mutation SNP A A G TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr3:178916933A>G ENST00000263967.3 + 2 477 c.320A>G c.(319-321)aAc>aGc p.N107S NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 107 PI3K-ABD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.N107S(2)|p.G106_R108del(2)|p.G106_R108delGNR(2) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CCAGTAGGCAACCGTGAAGAA 0.343000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 6 49 0 0 1 0 0 SFTPC 6440 broad.mit.edu 37 8 22021462 22021462 + Missense_Mutation SNP G G A TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr8:22021462G>A ENST00000521315.1 + 5 516 c.484G>A c.(484-486)Gat>Aat p.D162N SFTPC_ENST00000318561.3_Missense_Mutation_p.D168N|SFTPC_ENST00000522109.1_3'UTR|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000524255.1_Missense_Mutation_p.D115N|SFTPC_ENST00000437090.2_3'UTR P11686 PSPC_HUMAN surfactant protein C 168 BRICHOS. respiratory gaseous exchange extracellular space autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) AGAGGGGCGAGATGCAGGCTC 0.622000 22 77 0 0 1 0 0 CCDC136 64753 broad.mit.edu 37 7 128441272 128441272 + Missense_Mutation SNP C C G TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr7:128441272C>G ENST00000297788.4 + 4 746 c.379C>G c.(379-381)Ctg>Gtg p.L127V CCDC136_ENST00000464832.1_Missense_Mutation_p.L177V|CCDC136_ENST00000378685.4_Missense_Mutation_p.L177V|CCDC136_ENST00000487361.1_Missense_Mutation_p.L127V NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 127 Glu-rich. integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 GGAGATTTCCCTGTTAGAGCA 0.488000 6 36 0 0 1 0 0 ACTR8 93973 broad.mit.edu 37 3 53905380 53905380 + Missense_Mutation SNP C C T TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr3:53905380C>T ENST00000335754.3 - 11 1546 c.1446G>A c.(1444-1446)atG>atA p.M482I ACTR8_ENST00000231909.7_Missense_Mutation_p.M187I|ACTR8_ENST00000482349.1_Missense_Mutation_p.M371I NM_022899.4 NP_075050.3 Q9H981 ARP8_HUMAN ARP8 actin-related protein 8 homolog (yeast) 482 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) CGTTGCCGGCCATCAGGCCAT 0.552000 24 114 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18937330 18937330 + Missense_Mutation SNP T T C TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr16:18937330T>C ENST00000446231.2 - 1 446 c.34A>G c.(34-36)Agc>Ggc p.S12G SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 12 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ccgccgccgctgcTCAGCCGA 0.736000 3 17 0 0 1 0 0 CHRNA1 1134 broad.mit.edu 37 2 175618427 175618427 + Silent SNP C C A TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr2:175618427C>A ENST00000348749.5 - 6 659 c.582G>T c.(580-582)ggG>ggT p.G194G CHRNA1_ENST00000409542.1_Silent_p.G112G|CHRNA1_ENST00000409219.1_Silent_p.G194G|CHRNA1_ENST00000261007.5_Silent_p.G219G|CHRNA1_ENST00000409323.1_Silent_p.G194G|AC018890.6_ENST00000442996.1_RNA NM_000079.3 NP_000070.1 P02708 ACHA_HUMAN cholinergic receptor, nicotinic, alpha 1 (muscle) 219 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 TCACCCACTCCCCGCTCTCCA 0.592000 13 44 7.93312e-07 8.51007e-07 1 1 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 6 50 0 0 1 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 6 115 0 0 1 0 0 FGL2 10875 broad.mit.edu 37 7 76825804 76825804 + Missense_Mutation SNP C C G TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr7:76825804C>G ENST00000248598.5 - 2 1144 c.1112G>C c.(1111-1113)tGt>tCt p.C371S CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron NM_006682.2 NP_006673.1 Q14314 FGL2_HUMAN fibrinogen-like 2 371 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 GTACAGCCCACAGTTCCCAGA 0.413000 21 78 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70953187 70953187 + Silent SNP G G C TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr12:70953187G>C ENST00000334414.6 - 18 4694 c.4650C>G c.(4648-4650)gtC>gtG p.V1550V PTPRB_ENST00000551525.1_Silent_p.V1549V|PTPRB_ENST00000451516.2_Silent_p.V1242V|PTPRB_ENST00000538708.1_Silent_p.V1242V|PTPRB_ENST00000261266.5_Silent_p.V1332V|PTPRB_ENST00000550857.1_Silent_p.V1242V|PTPRB_ENST00000550358.1_Silent_p.V1462V NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1332 Fibronectin type-III 17. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGACAGTCTTGACGTTGAATT 0.418000 37 180 0 0 1 0 0 ZNF433 163059 broad.mit.edu 37 19 12126124 12126124 + Missense_Mutation SNP A A C TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr19:12126124A>C ENST00000419886.2 - 5 1744 c.1453T>G c.(1453-1455)Tcc>Gcc p.S485A ZNF433_ENST00000344980.6_Missense_Mutation_p.S520A|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA Q8N7K0 ZN433_HUMAN zinc finger protein 433 520 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1) 14 TATCGAAAGGAGCTCGAACAG 0.438000 7 47 0 0 1 0 0 FAM86JP 100125556 broad.mit.edu 37 3 125643933 125643933 + RNA SNP A A G rs73858994 by1000genomes TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr3:125643933A>G ENST00000485843.1 + 0 457 NR_024251.1 ACCCAGAGACATGCCAGCTGT 0.647000 8 132 0 0 1 0 0 DDHD2 23259 broad.mit.edu 37 8 38090549 38090549 + Nonsense_Mutation SNP C C T TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr8:38090549C>T ENST00000397166.2 + 2 562 c.37C>T c.(37-39)Cag>Tag p.Q13* DDHD2_ENST00000520272.2_Nonsense_Mutation_p.Q13* NM_015214.2 NP_056029.2 O94830 DDHD2_HUMAN DDHD domain containing 2 13 lipid catabolic process centrosome hydrolase activity|metal ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2) 28 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) GCAGTTGTCCCAGTCAGATCC 0.433000 12 44 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 3 15 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61835663 61835663 + Missense_Mutation SNP G G A TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr10:61835663G>A ENST00000280772.1 - 37 5167 c.4976C>T c.(4975-4977)cCa>cTa p.P1659L ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1659 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGACTTAAATGGCAAACTTGA 0.418000 12 51 0 0 1 0 0 CLIC6 54102 broad.mit.edu 37 21 36079602 36079602 + Missense_Mutation SNP G G A TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr21:36079602G>A ENST00000360731.3 + 3 1453 c.1453G>A c.(1453-1455)Gga>Aga p.G485R CLIC6_ENST00000349499.2_Missense_Mutation_p.G467R Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 485 chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 TGAGAGTATCGGAAATTGCCC 0.443000 18 61 0 0 1 0 0 AC073321.4 0 broad.mit.edu 37 2 217475010 217475010 + RNA DEL G G - TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr2:217475010delG ENST00000441803.1 + 0 195 ttttttttttGAAAGAAAGGC 0.393 2 4 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55242466 55242480 + In_Frame_Del DEL GAATTAAGAGAAGCA GAATTAAGAGAAGCA - rs121913438 TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr7:55242466_55242480delGAATTAAGAGAAGCA ENST00000275493.2 + 19 2413_2427 c.2236_2250delGAATTAAGAGAAGCA c.(2236-2250)del p.ELREA746del EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.ELREA693del|EGFR_ENST00000455089.1_In_Frame_Del_p.ELREA701del NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 746 Protein kinase. Missing (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_A750del(1)|p.T751_E758del(1)|p.R748K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CGCTATCAAGGAATTAAGAGAAGCAACATCTCCGA 0.474 E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 15 78 --- --- --- --- FAM74A3 728495 broad.mit.edu 37 9 40715923 40715924 + RNA DEL AA AA - rs62565543 TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr9:40715923_40715924delAA ENST00000604146.1 + 0 262_263 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAGACGTGGAAAGAGCTCAGA 0.569 4 8 --- --- --- --- WNK1 65125 broad.mit.edu 37 12 989062 989063 + Frame_Shift_Del DEL TC TC - TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr12:989062_989063delTC ENST00000315939.6 + 11 3340_3341 c.2697_2698delTC c.(2695-2700)cttgfs p.LL899fs WNK1_ENST00000340908.4_Frame_Shift_Del_p.LL492fs|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Frame_Shift_Del_p.LL1397fs NM_018979.3 NP_061852.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 899 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TTCCAACCCTTCTGCAGCCTGT 0.545 8 148 --- --- --- --- IGHV3-48 28424 broad.mit.edu 37 14 106993939 106993941 + RNA DEL TAC TAC - TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr14:106993939_106993941delTAC ENST00000390624.2 - 0 302_304 TAGTATATGGTACTACTACTACT 0.502 7 385 --- --- --- --- OR4N4 283694 broad.mit.edu 37 15 22382920 22382921 + Frame_Shift_Ins INS - - T TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr15:22382920_22382921insT ENST00000328795.4 + 1 539_540 c.448_449insT c.(448-450)tggfs p.W150fs RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GGCTCTGTGGCTTGGGGGTTTT 0.535 8 190 --- --- --- --- ZNF770 54989 broad.mit.edu 37 15 35275372 35275386 + In_Frame_Del DEL ACGCTGACAAATACT ACGCTGACAAATACT - rs144467698 TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr15:35275372_35275386delACGCTGACAAATACT ENST00000356321.4 - 3 594_608 c.250_264delAGTATTTGTCAGCGT c.(250-264)del p.SICQR84del NM_014106.3 NP_054825.2 Q6IQ21 ZN770_HUMAN zinc finger protein 770 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R88C(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) TTTTAAAGTGACGCTGACAAATACTACATTTAAAA 0.377 9 63 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 4 6 --- --- --- --- CCDC155 147872 broad.mit.edu 37 19 49920666 49920668 + In_Frame_Del DEL CTG CTG - TCGA-97-8552-01A-11D-2393-08 TCGA-97-8552-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b04678-315f-421b-b0b9-fee46e80f243 1aa4f175-2bd1-497d-b7b6-3bf9204aa5ff g.chr19:49920666_49920668delCTG ENST00000447857.3 + 20 1793_1795 c.1588_1590delCTG c.(1588-1590)del p.L536del NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 536 Poly-Leu. integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 TGTCCTGGGCctgctgctgctgc 0.650 2 4 --- --- --- ---