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 VPS9D1 9605 broad.mit.edu 37 16 89775334 89775334 + Missense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr16:89775334G>A ENST00000561976.1 - 12 1795 c.1418C>T c.(1417-1419)gCg>gTg p.A473V VPS9D1_ENST00000389386.3_Missense_Mutation_p.A543V VPS9 domain containing 1 p.A543V(1) GTAGTCTTCCGCACAGACACA 0.682000 6 5 0 0 0.029380 0 0 KEAP1 9817 broad.mit.edu 37 19 10602335 10602335 + Missense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr19:10602335G>A ENST00000171111.5 - 3 1790 c.1243C>T c.(1243-1245)Cgc>Tgc p.R415C KEAP1_ENST00000393623.2_Missense_Mutation_p.R415C NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 415 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.R415C(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) ACCCCGATGCGGTTACGGGGC 0.657000 8 8 0 0 0.047766 0 0 CUL2 8453 broad.mit.edu 37 10 35320243 35320243 + Missense_Mutation SNP C C G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr10:35320243C>G ENST00000374748.1 - 15 1684 c.1371G>C c.(1369-1371)atG>atC p.M457I CUL2_ENST00000374742.1_Missense_Mutation_p.M457I|CUL2_ENST00000602371.1_Missense_Mutation_p.M400I|CUL2_ENST00000537177.1_Missense_Mutation_p.M476I|CUL2_ENST00000374751.3_Missense_Mutation_p.M457I|CUL2_ENST00000374746.1_Missense_Mutation_p.M457I|CUL2_ENST00000374749.3_Missense_Mutation_p.M457I Q13617 CUL2_HUMAN cullin 2 457 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding p.M457I(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2) 31 ATTTGTTGATCATGGCTTCTT 0.323000 15 18 0 0 0.119110 0 0 DNAJC6 9829 broad.mit.edu 37 1 65851414 65851414 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:65851414G>T ENST00000395325.3 + 7 806 c.649G>T c.(649-651)Gac>Tac p.D217Y DNAJC6_ENST00000371069.4_Missense_Mutation_p.D274Y|DNAJC6_ENST00000498720.1_3'UTR|DNAJC6_ENST00000263441.7_Missense_Mutation_p.D204Y NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 217 Phosphatase tensin-type. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding p.C216_D217>*(1) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 CTATATGTGTGACCTACTGGC 0.463000 8 50 0.000157383 0.00017218 0.038147 1 0 SAGE1 55511 broad.mit.edu 37 X 134990731 134990731 + Missense_Mutation SNP A A T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chrX:134990731A>T ENST00000535938.1 + 12 1563 c.1396A>T c.(1396-1398)Aat>Tat p.N466Y SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.N466Y|SAGE1_ENST00000324447.3_Missense_Mutation_p.N466Y NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 466 p.N466Y(1) breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) CGGGCTTATTAATATGGCAGG 0.413000 73 56 0 0 0.139131 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 144977 144977 + Missense_Mutation SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr5:144977T>C ENST00000283426.6 + 4 829 c.779T>C c.(778-780)gTg>gCg p.V260A NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 260 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.V260A(1) endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GTTGTCCTGGTGGATGCACGC 0.567000 16 36 0 0 0.146539 0 0 LCE1B 353132 broad.mit.edu 37 1 152785211 152785211 + Missense_Mutation SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:152785211A>G ENST00000360090.3 + 1 765 c.289A>G c.(289-291)Agc>Ggc p.S97G NM_178349.1 NP_848126.1 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 97 Gly-rich. keratinization p.S97G(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGGCTGCTGCAGCCAGCCCTC 0.647000 50 46 0 0 0.139131 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36159051 36159051 + Nonsense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr14:36159051G>A ENST00000258840.6 - 18 2956 c.2566C>T c.(2566-2568)Cga>Tga p.R856* RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.R809*|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.R809*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.R809* Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 809 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity p.R809*(2) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CCTTTGGCTCGTTCAACAGTG 0.458000 37 24 0 0 0.098360 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274415 39274415 + Silent SNP C C T rs425487 by1000genomes TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr17:39274415C>T ENST00000391413.2 - 1 191 c.153G>A c.(151-153)agG>agA p.R51R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51R(6) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGCCTGCAGCAGC 0.667000 5 47 0 0 0.038147 0 0 KIAA1549 57670 broad.mit.edu 37 7 138554409 138554409 + Silent SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr7:138554409T>C ENST00000440172.1 - 14 4698 c.4650A>G c.(4648-4650)gtA>gtG p.V1550V KIAA1549_ENST00000422774.1_Silent_p.V1550V|KIAA1549_ENST00000242365.4_Silent_p.V1500V NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1550 integral to membrane p.V1500V(1)|p.V1550V(1) KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 ACAGGTCGTCTACCACCGGGA 0.642000 O BRAF pilocytic astrocytoma 5 22 0 0 0.038147 0 0 DRD2 1813 broad.mit.edu 37 11 113288792 113288792 + Missense_Mutation SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr11:113288792A>G ENST00000362072.3 - 3 696 c.352T>C c.(352-354)Tgc>Cgc p.C118R DRD2_ENST00000346454.3_Missense_Mutation_p.C118R|DRD2_ENST00000544518.1_Missense_Mutation_p.C117R|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000355319.2_Missense_Mutation_p.C118R|DRD2_ENST00000542968.1_Missense_Mutation_p.C118R|DRD2_ENST00000538967.1_Missense_Mutation_p.C118R NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 118 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding p.C118R(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CTCGCCGTGCACATCATGACG 0.552000 8 29 0 0 0.058154 0 0 KIAA1009 22832 broad.mit.edu 37 6 84862734 84862734 + Missense_Mutation SNP T T A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr6:84862734T>A ENST00000403245.3 - 23 3273 c.3159A>T c.(3157-3159)aaA>aaT p.K1053N KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.K977N NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 1053 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding p.K1053N(1) breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CATTCTGATGTTTAAGAACGT 0.383000 15 18 0 0 0.146539 0 0 HMX3 340784 broad.mit.edu 37 10 124896850 124896850 + Missense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr10:124896850G>A ENST00000357878.5 + 2 766 c.677G>A c.(676-678)cGc>cAc p.R226H NM_001105574.1 NP_001099044.1 A6NHT5 HMX3_HUMAN H6 family homeobox 3 226 cell differentiation nucleus sequence-specific DNA binding transcription factor activity p.R226H(1) lung(4) 4 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) CCGGCGTGCCGCAAGAAGAAG 0.672000 4 5 0 0 0.150653 0 0 MDGA2 161357 broad.mit.edu 37 14 47600918 47600918 + Splice_Site SNP T T A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr14:47600918T>A ENST00000426342.1 - 5 776 c.31_splice c.e5+1 p.T10_splice MDGA2_ENST00000399232.2_Splice_Site_p.T308_splice|MDGA2_ENST00000439988.2_Splice_Site_p.T239_splice|MDGA2_ENST00000357362.3_Splice_Site_p.T10_splice NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 239 spinal cord motor neuron differentiation anchored to membrane|plasma membrane p.T10T(2)|p.T308T(1) breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 ATTCCATACCTGTTTTATTGG 0.328000 15 10 0 0 0.175082 0 0 PLG 5340 broad.mit.edu 37 6 161162365 161162365 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr6:161162365G>T ENST00000308192.9 + 17 2104 c.2041G>T c.(2041-2043)Gta>Tta p.V681L NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 681 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity p.V681L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CACTGACAAAGTAATCCCAGC 0.493000 26 18 7.01153e-11 8.23373e-11 0.125774 1 0 UBR4 23352 broad.mit.edu 37 1 19501491 19501491 + Missense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:19501491G>A ENST00000375267.2 - 21 2813 c.2810C>T c.(2809-2811)tCc>tTc p.S937F UBR4_ENST00000375254.3_Missense_Mutation_p.S937F|UBR4_ENST00000375226.2_Missense_Mutation_p.S937F|UBR4_ENST00000375217.2_Missense_Mutation_p.S937F Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 937 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding p.S937F(1) breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGCTTCTGGGGACAGGACACA 0.403000 37 34 0 0 0.086207 0 0 TFIP11 24144 broad.mit.edu 37 22 26892780 26892780 + Missense_Mutation SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr22:26892780C>T ENST00000407690.1 - 11 1795 c.1512G>A c.(1510-1512)atG>atA p.M504I TFIP11_ENST00000407431.1_Missense_Mutation_p.M504I|TFIP11_ENST00000407148.1_Missense_Mutation_p.M504I|TFIP11_ENST00000405938.1_Missense_Mutation_p.M504I NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 504 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity p.M504I(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 AAAAGTCCACCATCGGGTCAC 0.478000 11 80 0 0 0.080935 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716785 142716785 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chrX:142716785G>T ENST00000381779.4 - 2 2365 c.2140C>A c.(2140-2142)Cct>Act p.P714T SLITRK4_ENST00000338017.4_Missense_Mutation_p.P714T|SLITRK4_ENST00000356928.1_Missense_Mutation_p.P714T NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 714 integral to membrane p.P714T(2) autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TGTCCTGGAGGATCTGAAAAC 0.423000 61 40 2.44813e-32 3.19756e-32 0.139131 1 0 REG1B 5968 broad.mit.edu 37 2 79314689 79314689 + Missense_Mutation SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr2:79314689A>G ENST00000305089.3 - 2 130 c.50T>C c.(49-51)cTg>cCg p.L17P NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 17 cell proliferation extracellular region sugar binding p.L17P(1) central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 GCTCAGAGACAGGAACATCAG 0.468000 9 27 0 0 0.047766 0 0 ANK2 287 broad.mit.edu 37 4 114209548 114209548 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr4:114209548G>T ENST00000357077.4 + 20 2236 c.2183G>T c.(2182-2184)gGt>gTt p.G728V ANK2_ENST00000506722.1_Missense_Mutation_p.G707V|ANK2_ENST00000264366.6_Missense_Mutation_p.G728V|ANK2_ENST00000394537.3_Missense_Mutation_p.G728V NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 728 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.G728V(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TTACAGCTTGGTTACACACCT 0.358000 31 32 1.61788e-16 2.01057e-16 0.163468 1 0 CNTLN 54875 broad.mit.edu 37 9 17415873 17415873 + Missense_Mutation SNP A A T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr9:17415873A>T ENST00000380647.3 + 17 2968 c.2884A>T c.(2884-2886)Act>Tct p.T962S CNTLN_ENST00000262360.5_Missense_Mutation_p.T962S|CNTLN_ENST00000425824.1_Missense_Mutation_p.T962S Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 962 centriole|membrane two-component sensor activity p.T962S(1) breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) AGCAGTTCCTACTAGAGGTAA 0.269000 24 24 0 0 0.091800 0 0 ZHX2 22882 broad.mit.edu 37 8 123964400 123964400 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:123964400G>T ENST00000314393.4 + 3 1485 c.650G>T c.(649-651)cGc>cTc p.R217L NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 217 Required for homodimerization. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R217L(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) GGGACCGCCCGCCTGGTGACA 0.592000 26 73 1.50538e-07 1.72044e-07 0.116897 1 0 NPY1R 4886 broad.mit.edu 37 4 164247323 164247323 + Missense_Mutation SNP A A C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr4:164247323A>C ENST00000296533.2 - 2 915 c.384T>G c.(382-384)atT>atG p.I128M NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 128 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding p.I128M(1) breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CCAGAGAGAAAATGGACACAG 0.423000 12 61 0 0 0.080935 0 0 OVOS2 144203 broad.mit.edu 37 12 31267720 31267720 + RNA SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr12:31267720A>G ENST00000542490.1 - 0 757 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 TTTTATCTTTATACTCTATGT 0.318000 12 9 0 0 0.080935 0 0 TRPV5 56302 broad.mit.edu 37 7 142605736 142605736 + Silent SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr7:142605736A>G ENST00000265310.1 - 15 2482 c.2134T>C c.(2134-2136)Ttg>Ctg p.L712L NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 712 Involved in Ca(2+)-dependent inactivation (By similarity). L -> F (in dbSNP:rs4252509). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity p.L712L(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CCAAGATTCAAGTGCCCCAGG 0.552000 27 46 0 0 0.134883 0 0 EML4 27436 broad.mit.edu 37 2 42552612 42552612 + Silent SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr2:42552612T>C ENST00000318522.5 + 20 2422 c.2160T>C c.(2158-2160)caT>caC p.H720H EML4_ENST00000401738.3_Silent_p.H731H|EML4_ENST00000402711.2_Silent_p.H662H|EML4_ENST00000453191.2_5'UTR NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 720 microtubule-based process|mitosis cytoplasm|microtubule protein binding p.H720H(1) EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 TCTAGGGACATTCCAGCTACA 0.348000 T ALK NSCLC 3 10 0 0 0.115264 0 0 GABBR2 9568 broad.mit.edu 37 9 101068494 101068494 + Missense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr9:101068494G>A ENST00000259455.2 - 15 2597 c.2138C>T c.(2137-2139)aCc>aTc p.T713I NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 713 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.T713I(1) NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) CTGGTCCCGGGTCAGGAAGGA 0.577000 8 9 0 0 0.038147 0 0 UBIAD1 29914 broad.mit.edu 37 1 11333871 11333871 + Missense_Mutation SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:11333871C>A ENST00000376810.5 + 1 609 c.283C>A c.(283-285)Cac>Aac p.H95N UBIAD1_ENST00000376804.2_Missense_Mutation_p.H95N NM_013319.2 NP_037451.1 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 95 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity p.H95N(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) CCTGGCTGTGCACGGGGCCGG 0.567000 34 47 1.04594e-18 1.31255e-18 0.086207 1 0 TGFBRAP1 9392 broad.mit.edu 37 2 105883921 105883921 + Silent SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr2:105883921T>C ENST00000393359.2 - 12 2928 c.2502A>G c.(2500-2502)ccA>ccG p.P834P TGFBRAP1_ENST00000258449.1_Silent_p.P834P Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 834 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding p.P834P(1) central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 GACCACCATTTGGGTATCTAA 0.493000 42 53 0 0 0.111260 0 0 DNAJC6 9829 broad.mit.edu 37 1 65851413 65851413 + Nonsense_Mutation SNP T T A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:65851413T>A ENST00000395325.3 + 7 805 c.648T>A c.(646-648)tgT>tgA p.C216* DNAJC6_ENST00000371069.4_Nonsense_Mutation_p.C273*|DNAJC6_ENST00000498720.1_3'UTR|DNAJC6_ENST00000263441.7_Nonsense_Mutation_p.C203* NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 216 Phosphatase tensin-type. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding p.C216_D217>*(1) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 GCTATATGTGTGACCTACTGG 0.458000 8 48 0 0 0.038147 0 0 CALCOCO2 10241 broad.mit.edu 37 17 46940221 46940221 + Missense_Mutation SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr17:46940221A>G ENST00000258947.3 + 13 1296 c.1195A>G c.(1195-1197)Atc>Gtc p.I399V CALCOCO2_ENST00000509507.1_Missense_Mutation_p.I420V|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.I423V|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.I327V|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.I357V NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4 NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1 Q13137 CACO2_HUMAN calcium binding and coiled-coil domain 2 399 Interaction with MYO6. response to interferon-gamma|viral reproduction cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction protein homodimerization activity p.I399V(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 15 GAAATGCCCTATCTGCAAAGC 0.453000 73 27 0 0 0.139131 0 0 RBM12B 389677 broad.mit.edu 37 8 94747222 94747222 + Nonsense_Mutation SNP T T A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:94747222T>A ENST00000399300.2 - 3 1630 c.1417A>T c.(1417-1419)Aga>Tga p.R473* RBM12B_ENST00000517700.1_Nonsense_Mutation_p.R473*|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 473 RRM 3. nucleotide binding|RNA binding p.R473*(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GATATAAGTCTTAATAACACC 0.418000 96 175 0 0 0.139131 0 0 OR2T34 127068 broad.mit.edu 37 1 248737471 248737471 + Silent SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:248737471G>A ENST00000328782.2 - 1 609 c.588C>T c.(586-588)gaC>gaT p.D196D NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D196E(1)|p.D196D(1) breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGAGGGAGACGTCAGAGCAGG 0.517000 45 83 0 0 0.131918 0 0 FBXL17 64839 broad.mit.edu 37 5 107700656 107700656 + Missense_Mutation SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr5:107700656T>C ENST00000542267.1 - 3 1563 c.1157A>G c.(1156-1158)cAg>cGg p.Q386R FBXL17_ENST00000496714.1_5'UTR|FBXL17_ENST00000359660.5_5'UTR NM_001163315.2 NP_001156787.2 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 386 p.Q386R(1) endometrium(1)|large_intestine(4)|lung(1) 6 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) AATTATATTCTGACTTCTTGA 0.308000 18 28 0 0 0.043863 0 0 BCAN 63827 broad.mit.edu 37 1 156628466 156628466 + Silent SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:156628466C>A ENST00000329117.4 + 13 2905 c.2569C>A c.(2569-2571)Cga>Aga p.R857R BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 857 Sushi. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding p.(=)(1) cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCCGCTGATCCGATGCCAAGA 0.637000 48 92 1.11015e-26 1.43534e-26 0.139131 1 0 PPP1R3D 5509 broad.mit.edu 37 20 58514506 58514506 + Missense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr20:58514506G>A ENST00000370996.3 - 1 846 c.481C>T c.(481-483)Ccg>Tcg p.P161S FAM217B_ENST00000358293.3_Intron NM_006242.3 NP_006233.1 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 161 glycogen metabolic process protein binding|protein serine/threonine phosphatase activity p.P161S(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1) 13 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) TCGACGGGCGGCGGGAAATCG 0.677000 3 11 0 0 0.115264 0 0 MAL 4118 broad.mit.edu 37 2 95715324 95715324 + Splice_Site SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr2:95715324A>G ENST00000309988.4 + 3 370 c.e3-1 MAL_ENST00000353004.3_Intron|MAL_ENST00000354078.3_Splice_Site|MAL_ENST00000349807.3_Intron NM_002371.3 NP_002362.1 P21145 MAL_HUMAN mal, T-cell differentiation protein apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath p.?(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2) 10 STAD - Stomach adenocarcinoma(1183;0.18) TCTGCCCCATAGGACGCAGCC 0.657000 21 33 0 0 0.083992 0 0 SPEF2 79925 broad.mit.edu 37 5 35670182 35670182 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr5:35670182G>T ENST00000440995.2 + 10 1377 c.1377G>T c.(1375-1377)atG>atT p.M459I SPEF2_ENST00000509059.1_Missense_Mutation_p.M459I|SPEF2_ENST00000356031.3_Missense_Mutation_p.M459I|SPEF2_ENST00000282469.6_Missense_Mutation_p.M459I Q9C093 SPEF2_HUMAN sperm flagellar 2 459 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity p.M459I(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATAAGTTGATGCATGATTGGA 0.323000 25 64 6.36457e-07 7.20943e-07 0.091800 1 0 NFIA 4774 broad.mit.edu 37 1 61869785 61869785 + Missense_Mutation SNP A A T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:61869785A>T ENST00000403491.3 + 8 1569 c.1085A>T c.(1084-1086)cAt>cTt p.H362L NFIA_ENST00000407417.3_Missense_Mutation_p.H354L|NFIA_ENST00000485903.2_Missense_Mutation_p.H319L|NFIA_ENST00000371184.2_Missense_Mutation_p.H233L|NFIA_ENST00000371185.2_Missense_Mutation_p.H340L|NFIA_ENST00000371187.3_Missense_Mutation_p.H362L|NFIA_ENST00000371189.4_Missense_Mutation_p.H407L|NFIA_ENST00000371191.1_Missense_Mutation_p.H385L|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000357977.5_Missense_Mutation_p.H10L NM_001134673.3|NM_005595.4 NP_001128145.1|NP_005586.1 Q12857 NFIA_HUMAN nuclear factor I/A 362 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.H362L(1)|p.H407L(1) NFIA/EHF(2) endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1) 34 GCAAGTCCGCATGCAACACCA 0.488000 25 120 0 0 0.108266 0 0 NUDT7 283927 broad.mit.edu 37 16 77775669 77775669 + Missense_Mutation SNP C C G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr16:77775669C>G ENST00000268533.5 + 4 608 c.539C>G c.(538-540)cCt>cGt p.P180R NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.P127R|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000564085.1_3'UTR NM_001105663.2 NP_001099133.1 P0C024 NUDT7_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 7 180 nucleoside diphosphate metabolic process peroxisome hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding p.P180R(1) breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1) 18 TACACAAACCCTGAAGACGGT 0.453000 19 30 0 0 0.043863 0 0 MYL10 93408 broad.mit.edu 37 7 101266291 101266291 + Missense_Mutation SNP G G T rs144539367 byFrequency TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr7:101266291G>T ENST00000223167.4 - 4 512 c.335C>A c.(334-336)aCc>aAc p.T112N NM_138403.4 NP_612412.2 Q9BUA6 MYL10_HUMAN myosin, light chain 10, regulatory 112 EF-hand 1. mitochondrion calcium ion binding p.T112N(1) breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 12 CGCGGCAAAGGTGTCCCTCAA 0.627000 12 21 7.93312e-07 8.90736e-07 0.119110 1 0 PPP3CA 5530 broad.mit.edu 37 4 101953470 101953470 + Missense_Mutation SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr4:101953470C>A ENST00000394854.3 - 12 1976 c.1293G>T c.(1291-1293)atG>atT p.M431I PPP3CA_ENST00000512215.1_Missense_Mutation_p.M199I|PPP3CA_ENST00000507176.1_Missense_Mutation_p.M333I|PPP3CA_ENST00000323055.6_Missense_Mutation_p.M389I|PPP3CA_ENST00000523694.2_Missense_Mutation_p.M364I|PPP3CA_ENST00000394853.4_Missense_Mutation_p.M431I NM_000944.4 NP_000935.1 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha isozyme 431 protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding p.M431I(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) CGCTGGGGAGCATGCCAGTTG 0.522000 9 12 0.000673444 0.000724377 0.069234 1 0 ABCA12 26154 broad.mit.edu 37 2 215862422 215862422 + Missense_Mutation SNP A A T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr2:215862422A>T ENST00000272895.7 - 23 3510 c.3291T>A c.(3289-3291)caT>caA p.H1097Q ABCA12_ENST00000389661.4_Missense_Mutation_p.H779Q NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1097 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity p.H1097Q(1) NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AACATACCTCATGAAGCCGGA 0.358000 27 17 0 0 0.091800 0 0 RYR2 6262 broad.mit.edu 37 1 237787114 237787114 + Missense_Mutation SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:237787114C>A ENST00000366574.2 + 39 6283 c.5966C>A c.(5965-5967)cCa>cAa p.P1989Q RYR2_ENST00000360064.6_Missense_Mutation_p.P1987Q|RYR2_ENST00000542537.1_Missense_Mutation_p.P1973Q NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1989 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.P1987Q(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGTCCATGTCCAGAAGAAATT 0.318000 25 26 6.32553e-13 7.56699e-13 0.099896 1 0 TRIM60 166655 broad.mit.edu 37 4 165962548 165962548 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr4:165962548G>T ENST00000512596.1 + 3 1540 c.1324G>T c.(1324-1326)Gat>Tat p.D442Y TRIM60_ENST00000508504.1_Missense_Mutation_p.D442Y|TRIM60_ENST00000341062.5_Missense_Mutation_p.D442Y NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 442 B30.2/SPRY. intracellular zinc ion binding p.D442Y(1) NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) TACTTTTAACGATTGTTTCAC 0.343000 33 29 5.60225e-13 6.76498e-13 0.144211 1 0 TMEM79 84283 broad.mit.edu 37 1 156255080 156255080 + Missense_Mutation SNP C C G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:156255080C>G ENST00000405535.2 + 2 234 c.63C>G c.(61-63)agC>agG p.S21R TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Missense_Mutation_p.S21R|TMEM79_ENST00000357501.2_Intron NM_032323.2 NP_115699.1 Q9BSE2 TMM79_HUMAN transmembrane protein 79 21 integral to membrane p.S21R(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1) 21 Hepatocellular(266;0.158) CAGAGAAGAGCTCACCCCAGG 0.602000 37 48 0 0 0.086207 0 0 KCNMB4 27345 broad.mit.edu 37 12 70794043 70794043 + Missense_Mutation SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr12:70794043A>G ENST00000258111.4 + 2 850 c.391A>G c.(391-393)Atg>Gtg p.M131V NM_014505.5 NP_055320.4 Q86W47 KCMB4_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 4 131 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity|protein binding p.M131V(1) kidney(1)|large_intestine(4)|lung(5) 10 Renal(347;0.236) Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) GGAAAGTGTCATGAATTGGCA 0.348000 52 73 0 0 0.139131 0 0 SMARCE1 6605 broad.mit.edu 37 17 38787102 38787102 + Silent SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr17:38787102G>A ENST00000348513.6 - 10 1671 c.891C>T c.(889-891)cgC>cgT p.R297R SMARCE1_ENST00000431889.2_Silent_p.R279R|SMARCE1_ENST00000400122.3_Silent_p.R227R|SMARCE1_ENST00000377808.4_Silent_p.R262R|SMARCE1_ENST00000544009.1_Silent_p.R227R|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Silent_p.R262R|SMARCE1_ENST00000578044.1_Silent_p.R227R NM_003079.4 NP_003070.3 Q969G3 SMCE1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 297 chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity p.R297R(1) large_intestine(1) 1 Breast(137;0.000812) CCTGCCTTTTGCGGGCCTGTT 0.512000 84 53 0 0 0.139131 0 0 STOX1 219736 broad.mit.edu 37 10 70645813 70645813 + Missense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr10:70645813G>A ENST00000298596.6 + 3 2344 c.2261G>A c.(2260-2262)gGc>gAc p.G754D STOX1_ENST00000421961.2_Missense_Mutation_p.G644D|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.G754D|STOX1_ENST00000399162.2_Intron NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 754 cytoplasm|nucleolus DNA binding p.G754D(1) breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 ATGCTGCCTGGCCACAGTCAG 0.428000 39 31 0 0 0.086207 0 0 MCOLN3 55283 broad.mit.edu 37 1 85487754 85487754 + Splice_Site SNP T T G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:85487754T>G ENST00000370589.2 - 11 1371 c.1320_splice c.e11+1 p.K440_splice WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Splice_Site_p.K384_splice|MCOLN3_ENST00000474447.1_5'UTR NM_018298.10 NP_060768.8 Q8TDD5 MCLN3_HUMAN mucolipin 3 440 integral to membrane ion channel activity p.K440T(1) endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1) 34 all cancers(265;0.00957)|Epithelial(280;0.0254) TATCAGTACCTTGTCATGGTA 0.423000 13 74 0 0 0.146539 0 0 ZP4 57829 broad.mit.edu 37 1 238053780 238053780 + Silent SNP A A T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:238053780A>T ENST00000366570.4 - 1 314 c.156T>A c.(154-156)ccT>ccA p.P52P RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 52 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity p.P52P(1) breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TTAGTACAGGAGGAGACGTTG 0.498000 8 25 0 0 0.047766 0 0 TCTE1 202500 broad.mit.edu 37 6 44250206 44250206 + Missense_Mutation SNP C C G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr6:44250206C>G ENST00000371505.4 - 4 1059 c.937G>C c.(937-939)Gac>Cac p.D313H TCTE1_ENST00000371503.3_Intron|TCTE1_ENST00000371504.1_Intron|TMEM151B_ENST00000438774.2_Intron NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 313 p.D313H(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGTGACAAGTCCAGCTCCTCG 0.567000 22 17 0 0 0.062417 0 0 FIBP 9158 broad.mit.edu 37 11 65652447 65652447 + Nonsense_Mutation SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr11:65652447C>A ENST00000338369.2 - 7 911 c.799G>T c.(799-801)Gga>Tga p.G267* FIBP_ENST00000533045.1_Nonsense_Mutation_p.G257*|FIBP_ENST00000357519.4_Nonsense_Mutation_p.G260* NM_198897.1 NP_942600.1 O43427 FIBP_HUMAN fibroblast growth factor (acidic) intracellular binding protein 267 fibroblast growth factor receptor signaling pathway endomembrane system|membrane|microsome|mitochondrion|nucleus fibroblast growth factor binding p.G267*(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 10 READ - Rectum adenocarcinoma(159;0.166) CCCAGCTTTCCCCGGAGAGCA 0.627000 OREG0021089 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 35 0.0692343 0.0714677 0.069234 1 0 SYNE2 23224 broad.mit.edu 37 14 64449507 64449507 + Nonsense_Mutation SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr14:64449507C>T ENST00000358025.3 + 17 2226 c.1996C>T c.(1996-1998)Caa>Taa p.Q666* SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.Q666*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q666* NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 666 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding p.Q666*(1) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTCAAAAACTCAACTTGTAAG 0.323000 21 22 0 0 0.069288 0 0 B3GNT1 11041 broad.mit.edu 37 11 66113531 66113531 + Silent SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr11:66113531G>T ENST00000311181.4 - 2 1383 c.1237C>A c.(1237-1239)Cga>Aga p.R413R NM_006876.2 NP_006867.1 O43505 B3GN1_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 413 poly-N-acetyllactosamine biosynthetic process integral to Golgi membrane N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity p.R413R(1) breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1) 12 CAGCAGCGTCGGGGAGAGTTG 0.522000 35 112 9.62906e-15 1.18511e-14 0.086207 1 0 ARHGEF11 9826 broad.mit.edu 37 1 156946817 156946817 + Silent SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:156946817C>T ENST00000368194.3 - 7 1579 c.540G>A c.(538-540)caG>caA p.Q180Q ARHGEF11_ENST00000361409.2_Silent_p.Q180Q NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 180 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.Q180Q(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCCTGAGGATCTGGGTGGCAT 0.428000 121 127 0 0 0.139131 0 0 SETD2 29072 broad.mit.edu 37 3 47158225 47158225 + Nonsense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr3:47158225G>A ENST00000409792.3 - 4 4516 c.4474C>T c.(4474-4476)Cga>Tga p.R1492* NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1492 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.R989*(2)|p.R1492*(1) breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TTAATATCTCGATGAGATTTA 0.313000 """N, F, S, Mis""" clear cell renal carcinoma 17 25 0 0 0.160694 0 0 RYR2 6262 broad.mit.edu 37 1 237791169 237791169 + Missense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:237791169G>A ENST00000366574.2 + 41 6546 c.6229G>A c.(6229-6231)Gac>Aac p.D2077N RYR2_ENST00000360064.6_Missense_Mutation_p.D2075N|RYR2_ENST00000542537.1_Missense_Mutation_p.D2061N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2077 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.D2075N(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGTCATTGAAGACCCCGAGCT 0.493000 10 8 0 0 0.069234 0 0 DENND5A 23258 broad.mit.edu 37 11 9215164 9215164 + Missense_Mutation SNP C C G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr11:9215164C>G ENST00000328194.3 - 5 1334 c.1014G>C c.(1012-1014)caG>caC p.Q338H DENND5A_ENST00000530044.1_Missense_Mutation_p.Q338H NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 338 DENN. p.Q338H(1) breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CATAGACATGCTGCCACTGGA 0.473000 21 26 0 0 0.083992 0 0 PTK2B 2185 broad.mit.edu 37 8 27255117 27255117 + Missense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:27255117G>A ENST00000397501.1 + 7 824 c.16G>A c.(16-18)Gag>Aag p.E6K PTK2B_ENST00000420218.2_Missense_Mutation_p.E6K|PTK2B_ENST00000346049.5_Missense_Mutation_p.E6K|PTK2B_ENST00000517339.1_Missense_Mutation_p.E6K|PTK2B_ENST00000338238.4_Missense_Mutation_p.E6K|PTK2B_ENST00000544172.1_Missense_Mutation_p.E6K NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 6 apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity p.E6K(2) breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) TGGGGTGTCCGAGCCCCTGAG 0.607000 10 42 0 0 0.076483 0 0 FAM66D 100132923 broad.mit.edu 37 8 11986736 11986736 + RNA SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:11986736T>C ENST00000434078.2 + 0 608 NR_027425.1 TGCATCTGGCTGAGAAGATGT 0.507000 3 96 0 0 0.115264 0 0 TP53 7157 broad.mit.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr17:7578403C>A ENST00000420246.2 - 5 659 c.527G>T c.(526-528)tGc>tTc p.C176F TP53_ENST00000269305.4_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000413465.2_Missense_Mutation_p.C176F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 176 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGTGGGGGCAGCGCCTCAC 0.652000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 31 16 3.1745e-13 3.86986e-13 0.134883 1 0 SEPT6 23157 broad.mit.edu 37 X 118771105 118771105 + Missense_Mutation SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chrX:118771105C>A ENST00000394610.1 - 7 1105 c.841G>T c.(841-843)Gtc>Ttc p.V281F SEPT6_ENST00000360156.7_Missense_Mutation_p.V281F|SEPT6_ENST00000489216.1_Missense_Mutation_p.V281F|SEPT6_ENST00000394616.4_Missense_Mutation_p.V223F|SEPT6_ENST00000394617.2_Missense_Mutation_p.V311F|SEPT6_ENST00000354228.4_Missense_Mutation_p.V281F|SEPT6_ENST00000354416.3_Missense_Mutation_p.V281F|SEPT6_ENST00000343984.5_Missense_Mutation_p.V281F NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 281 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding p.V281F(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 TCCATGTTGACCCGAATCAGC 0.547000 T MLL AML 11 19 6.31663e-08 7.28404e-08 0.132662 1 0 PURG 29942 broad.mit.edu 37 8 30890170 30890170 + Silent SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:30890170C>T ENST00000475541.1 - 1 1061 c.129G>A c.(127-129)gcG>gcA p.A43A PURG_ENST00000339382.2_Silent_p.A43A NM_013357.2 NP_037489.1 Q9UJV8 PURG_HUMAN purine-rich element binding protein G 43 nucleus DNA binding p.A43A(2) endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) TGGCTGAGGCCGCGTAGTGGG 0.627000 6 16 0 0 0.021553 0 0 MXRA5 25878 broad.mit.edu 37 X 3239235 3239235 + Silent SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chrX:3239235G>A ENST00000217939.6 - 5 4645 c.4491C>T c.(4489-4491)tcC>tcT p.S1497S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1497 extracellular region p.S1497S(2) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGAGAATTGTGGATGGGGACG 0.473000 49 32 0 0 0.139131 0 0 OR7G3 390883 broad.mit.edu 37 19 9237500 9237500 + Missense_Mutation SNP G G C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr19:9237500G>C ENST00000305444.2 - 1 126 c.127C>G c.(127-129)Ctg>Gtg p.L43V NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L43V(1) NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 ATGATGAGCAGGTTCCCCAGC 0.547000 14 20 0 0 0.132662 0 0 SMC1A 8243 broad.mit.edu 37 X 53409548 53409548 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chrX:53409548G>T ENST00000322213.4 - 21 3291 c.3164C>A c.(3163-3165)gCc>gAc p.A1055D NM_006306.2 NP_006297.2 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 1055 cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity p.A1055D(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2) 49 TGCCTGCTTGGCCTTCTTTGC 0.498000 4 18 0.014758 0.0154838 0.014758 1 0 GRIN2C 2905 broad.mit.edu 37 17 72846773 72846773 + Missense_Mutation SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr17:72846773A>G ENST00000293190.5 - 5 1393 c.1247T>C c.(1246-1248)gTg>gCg p.V416A GRIN2C_ENST00000347612.4_Missense_Mutation_p.V416A NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 416 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity p.V416A(2) NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) AGGGCTCTCCACGATGACAAA 0.657000 36 35 0 0 0.069456 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86491836 86491836 + Missense_Mutation SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr4:86491836C>T ENST00000395184.1 + 2 608 c.142C>T c.(142-144)Ctc>Ttc p.L48F ARHGAP24_ENST00000503995.1_Missense_Mutation_p.L48F|ARHGAP24_ENST00000506421.1_3'UTR NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 48 PH. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding p.L48F(1) breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) GGGGGATCAGCTCTATTATTT 0.473000 20 23 0 0 0.076483 0 0 C1orf173 127254 broad.mit.edu 37 1 75037335 75037335 + Silent SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:75037335G>A ENST00000326665.5 - 14 4277 c.4059C>T c.(4057-4059)gcC>gcT p.A1353A C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1353 Glu-rich. p.A1353A(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCTCCTCTGCGGCTGTTTCTG 0.512000 52 63 0 0 0.139131 0 0 IGKV2D-29 28882 broad.mit.edu 37 2 89987068 89987068 + RNA SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr2:89987068A>G ENST00000491977.1 + 0 379 CATGCAAAGTATACAGCTTCC 0.537000 27 55 0 0 0.116897 0 0 FREM1 158326 broad.mit.edu 37 9 14848694 14848694 + Silent SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr9:14848694A>G ENST00000380881.4 - 8 2048 c.1233T>C c.(1231-1233)gaT>gaC p.D411D FREM1_ENST00000380880.3_Silent_p.D410D|FREM1_ENST00000422223.2_Silent_p.D410D Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 410 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding p.D411D(1) breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GGGCATTTGTATCTGCTGTTC 0.443000 32 31 0 0 0.173368 0 0 OR5B2 390190 broad.mit.edu 37 11 58190389 58190389 + Missense_Mutation SNP T T A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr11:58190389T>A ENST00000302581.2 - 1 397 c.346A>T c.(346-348)Atg>Ttg p.M116L NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M116L(1) NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) TCATAGGCCATTGAGGCCAAC 0.512000 17 39 0 0 0.160694 0 0 OR6S1 341799 broad.mit.edu 37 14 21109020 21109020 + Silent SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr14:21109020C>A ENST00000320704.3 - 1 830 c.831G>T c.(829-831)gtG>gtT p.V277V NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V277V(1) kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) TTATTACTGTCACTGCCCAGT 0.458000 44 58 4.67007e-22 5.9185e-22 0.104719 1 0 HTR3B 9177 broad.mit.edu 37 11 113813798 113813798 + Missense_Mutation SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr11:113813798C>A ENST00000260191.2 + 7 1048 c.791C>A c.(790-792)cCa>cAa p.P264Q HTR3B_ENST00000537778.1_Missense_Mutation_p.P253Q NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 264 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity p.P264Q(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) TTCTACCTGCCACCCAACTGC 0.587000 11 20 0.00136819 0.00144735 0.093190 1 0 UHRF1BP1 54887 broad.mit.edu 37 6 34802533 34802533 + Silent SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr6:34802533C>T ENST00000192788.5 + 6 735 c.564C>T c.(562-564)ctC>ctT p.L188L UHRF1BP1_ENST00000452449.2_Silent_p.L188L NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 188 p.L188L(1) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 GGCAAACACTCCGAATTGAGG 0.423000 49 60 0 0 0.139131 0 0 SYPL2 284612 broad.mit.edu 37 1 110019462 110019462 + Missense_Mutation SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:110019462C>A ENST00000369872.3 + 4 535 c.319C>A c.(319-321)Ctc>Atc p.L107I SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Missense_Mutation_p.L107I NM_001040709.1 NP_001035799.1 Q5VXT5 SYPL2_HUMAN synaptophysin-like 2 107 MARVEL. integral to membrane|synaptic vesicle transporter activity p.L107I(1) breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) GACCATGCACCTCATGGGGGA 0.567000 6 33 0.00116845 0.00124634 0.021553 1 0 ITSN2 50618 broad.mit.edu 37 2 24432687 24432687 + Splice_Site SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr2:24432687C>T ENST00000355123.4 - 35 4916 c.4473_splice c.e35+1 p.T1491_splice ITSN2_ENST00000361999.3_Splice_Site_p.T1464_splice NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 1491 PH. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity p.T1490T(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGATACTCACCGTTTTATACA 0.502000 23 63 0 0 0.069288 0 0 PRKCE 5581 broad.mit.edu 37 2 46411986 46411986 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr2:46411986G>T ENST00000306156.3 + 15 2507 c.2180G>T c.(2179-2181)gGt>gTt p.G727V NM_005400.2 NP_005391.1 Q02156 KPCE_HUMAN protein kinase C, epsilon 727 AGC-kinase C-terminal. activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity p.G727V(1) MBOAT2/PRKCE(2) breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2) 34 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) GAATTCAAAGGTTTCTCCTAC 0.498000 25 40 4.26978e-12 5.06048e-12 0.083992 1 0 ZRSR1 7310 broad.mit.edu 37 5 112228539 112228539 + Silent SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr5:112228539G>A ENST00000391338.1 + 1 1227 c.1203G>A c.(1201-1203)gaG>gaA p.E401E REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000513339.1_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000545426.1_Intron NM_001204199.1 NP_001191128.1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 breast(1)|skin(1)|stomach(2) 4 GGGAATCCGAGAGAAAAAAGA 0.512000 6 11 0 0 0.021553 0 0 SMARCA2 6595 broad.mit.edu 37 9 2056747 2056747 + Missense_Mutation SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr9:2056747C>T ENST00000382203.1 + 7 1458 c.1249C>T c.(1249-1251)Cgg>Tgg p.R417W SMARCA2_ENST00000357248.2_Missense_Mutation_p.R417W|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R417W|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R417W P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 417 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding p.R417W(1)|p.R413W(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) AGCATACAAACGGAGCAAGCG 0.557000 11 12 0 0 0.069234 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947393 57947393 + Silent SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr11:57947393G>T ENST00000335397.3 + 3 793 c.477G>T c.(475-477)cgG>cgT p.R159R NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 159 R -> L (in dbSNP:rs12420738). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R159R(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) CCTTGGTGCGGACAGTCTCAG 0.537000 16 37 3.45872e-05 3.81652e-05 0.146539 1 0 FEZF1 389549 broad.mit.edu 37 7 121942893 121942893 + Silent SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr7:121942893C>T ENST00000442488.2 - 3 1096 c.1029G>A c.(1027-1029)ccG>ccA p.P343P FEZF1_ENST00000427185.2_Silent_p.P293P|FEZF1_ENST00000331178.4_Silent_p.P339P NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 343 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P339P(1) breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 CACACACAAACGGTTTGTAGC 0.393000 51 129 0 0 0.139131 0 0 GPR112 139378 broad.mit.edu 37 X 135430519 135430519 + Missense_Mutation SNP T T A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chrX:135430519T>A ENST00000394143.1 + 6 4945 c.4654T>A c.(4654-4656)Tgt>Agt p.C1552S GPR112_ENST00000287534.4_Missense_Mutation_p.C1489S|GPR112_ENST00000370652.1_Missense_Mutation_p.C1552S|GPR112_ENST00000394141.1_Missense_Mutation_p.C1347S|GPR112_ENST00000412101.1_Missense_Mutation_p.C1347S NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1552 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.C1552S(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GAAAAGTCCCTGTACAGCCAC 0.418000 67 44 0 0 0.139131 0 0 PAPPA2 60676 broad.mit.edu 37 1 176738760 176738760 + Silent SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:176738760A>G ENST00000367662.3 + 16 5505 c.4341A>G c.(4339-4341)acA>acG p.T1447T NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1447 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.T1447T(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TTCTGCTCACATGTTCTTCTG 0.478000 31 48 0 0 0.183431 0 0 CSMD3 114788 broad.mit.edu 37 8 113347699 113347699 + Missense_Mutation SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:113347699C>T ENST00000297405.5 - 45 7268 c.7024G>A c.(7024-7026)Gga>Aga p.G2342R CSMD3_ENST00000455883.2_Missense_Mutation_p.G2238R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2302R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2272R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2342 CUB 13. integral to membrane|plasma membrane p.G2302I(1)|p.G2342I(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGGTCTGGTCCATCCCTATGA 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 21 0 0 0.132662 0 0 CHD9 80205 broad.mit.edu 37 16 53358590 53358590 + Missense_Mutation SNP A A T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr16:53358590A>T ENST00000566029.1 + 39 8638 c.8429A>T c.(8428-8430)gAt>gTt p.D2810V CHD9_ENST00000564845.1_Missense_Mutation_p.D2810V|CHD9_ENST00000447540.1_Missense_Mutation_p.D2811V|CHD9_ENST00000398510.3_Missense_Mutation_p.D2826V Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2826 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding p.D2827V(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) AATACTTTTGATGTACAAAAC 0.368000 10 12 0 0 0.069234 0 0 POTEG 404785 broad.mit.edu 37 14 19553772 19553772 + Missense_Mutation SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr14:19553772C>T ENST00000409832.3 + 1 408 c.356C>T c.(355-357)cCt>cTt p.P119L NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 119 p.P119L(1) cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 AAAGTGGGCCCTTGGGGAGAC 0.597000 19 244 0 0 0.049695 0 0 GSDMC 56169 broad.mit.edu 37 8 130764122 130764122 + Missense_Mutation SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:130764122T>C ENST00000276708.4 - 9 1783 c.902A>G c.(901-903)cAc>cGc p.H301R NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 301 mitochondrion p.H301R(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 TGGGAGGATGTGAACTTGTTC 0.498000 90 221 0 0 0.139131 0 0 LAMA5 3911 broad.mit.edu 37 20 60907678 60907678 + Silent SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr20:60907678C>A ENST00000252999.3 - 27 3444 c.3378G>T c.(3376-3378)gtG>gtT p.V1126V NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1126 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding p.V1126V(1) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTGCACGGCCACGCCCACCT 0.682000 6 4 0.0293803 0.0305747 0.029380 1 0 C1orf51 148523 broad.mit.edu 37 1 150259060 150259060 + Missense_Mutation SNP A A T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:150259060A>T ENST00000290363.5 + 5 1301 c.852A>T c.(850-852)ttA>ttT p.L284F C1orf51_ENST00000369095.1_Missense_Mutation_p.L284F|C1orf51_ENST00000369094.1_Missense_Mutation_p.L196F NM_144697.2 NP_653298.1 Q8N365 CA051_HUMAN chromosome 1 open reading frame 51 284 p.L284F(1) endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) ATGGTCCTTTAGGCACTGGAA 0.552000 83 112 0 0 0.139131 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128877985 128877985 + Missense_Mutation SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chrX:128877985C>T ENST00000371106.3 + 3 364 c.172C>T c.(172-174)Cgc>Tgc p.R58C XPNPEP2_ENST00000371105.3_Missense_Mutation_p.R58C NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 58 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity p.R58C(1) endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 CACAGCCCTCCGCCAGCAGAT 0.498000 9 86 0 0 0.058154 0 0 USP40 55230 broad.mit.edu 37 2 234394527 234394527 + Silent SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr2:234394527C>T ENST00000251722.6 - 29 3408 c.3291G>A c.(3289-3291)ggG>ggA p.G1097G USP40_ENST00000427112.2_Silent_p.G1097G|USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Silent_p.G1109G Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 1097 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity p.G1109G(2) breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) AGCCGGCAGTCCCACCCTGGG 0.592000 8 2 0 0 0.038147 0 0 BCAN 63827 broad.mit.edu 37 1 156628465 156628465 + Silent SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:156628465C>A ENST00000329117.4 + 13 2904 c.2568C>A c.(2566-2568)atC>atA p.I856I BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 856 Sushi. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding p.(=)(1) cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGCCGCTGATCCGATGCCAAG 0.632000 48 95 2.17126e-26 2.77921e-26 0.139131 1 0 C12orf61 283416 broad.mit.edu 37 12 62996808 62996808 + Missense_Mutation SNP G G C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr12:62996808G>C ENST00000408887.2 - 1 406 c.311C>G c.(310-312)cCc>cGc p.P104R RP11-631N16.2_ENST00000550290.1_RNA NM_175895.3 NP_787091.1 Q8N7H1 CL061_HUMAN chromosome 12 open reading frame 61 104 p.P104R(1) cervix(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(9;0.0399) GBM - Glioblastoma multiforme(28;0.134) GGGTGGCCTGGGGACTTCCCG 0.662000 5 8 0 0 0.014758 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123687368 123687368 + Silent SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr12:123687368G>A ENST00000606320.1 - 10 1790 c.1584C>T c.(1582-1584)aaC>aaT p.N528N MPHOSPH9_ENST00000302349.5_Silent_p.N376N|MPHOSPH9_ENST00000392425.3_Silent_p.N376N|MPHOSPH9_ENST00000541076.2_Silent_p.N498N Q99550 MPP9_HUMAN M-phase phosphoprotein 9 376 M phase of mitotic cell cycle centriole|Golgi membrane p.N376N(1) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TCCTACTTTCGTTTTGGAATG 0.403000 5 155 0 0 0.014758 0 0 CSMD3 114788 broad.mit.edu 37 8 113347698 113347698 + Missense_Mutation SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:113347698C>A ENST00000297405.5 - 45 7269 c.7025G>T c.(7024-7026)gGa>gTa p.G2342V CSMD3_ENST00000455883.2_Missense_Mutation_p.G2238V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2302V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2272V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2342 CUB 13. integral to membrane|plasma membrane p.G2302I(1)|p.G2342I(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTGGTCTGGTCCATCCCTATG 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 18 3.45872e-05 3.81652e-05 0.146539 1 0 TTBK2 146057 broad.mit.edu 37 15 43069415 43069415 + Missense_Mutation SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr15:43069415T>C ENST00000267890.6 - 12 1331 c.1223A>G c.(1222-1224)cAt>cGt p.H408R TTBK2_ENST00000567274.1_Missense_Mutation_p.H373R|TTBK2_ENST00000567840.1_Missense_Mutation_p.H408R NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 408 cell death ATP binding|protein serine/threonine kinase activity p.H408R(1) NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) TGCCTGGCCATGGCTGTTCTC 0.443000 19 13 0 0 0.055883 0 0 DMD 1756 broad.mit.edu 37 X 32613910 32613910 + Silent SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chrX:32613910T>C ENST00000357033.4 - 13 1772 c.1566A>G c.(1564-1566)ggA>ggG p.G522G DMD_ENST00000378677.2_Silent_p.G518G|DMD_ENST00000288447.4_Silent_p.G514G NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 522 Missing (in BMD). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.G522G(1)|p.G517G(1)|p.G518G(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTGCGTGATCTCCACTAGATT 0.353000 21 16 0 0 0.062417 0 0 ACAN 176 broad.mit.edu 37 15 89417108 89417108 + Missense_Mutation SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr15:89417108A>G ENST00000439576.2 + 17 7743 c.7369A>G c.(7369-7371)Agg>Ggg p.R2457G ACAN_ENST00000561243.1_Missense_Mutation_p.R2457G|ACAN_ENST00000559004.1_Missense_Mutation_p.R2419G|ACAN_ENST00000352105.7_Intron NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2457 cell adhesion hyaluronic acid binding|sugar binding p.R2343G(2) NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGAGCATGCCAGGACCTTCGG 0.587000 11 15 0 0 0.093190 0 0 PAK4 10298 broad.mit.edu 37 19 39660357 39660357 + Missense_Mutation SNP A A C rs112229040 TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr19:39660357A>C ENST00000599386.1 + 3 345 c.164A>C c.(163-165)gAc>gCc p.D55A PAK4_ENST00000321944.4_Missense_Mutation_p.D55A|PAK4_ENST00000360442.3_Missense_Mutation_p.D55A|PAK4_ENST00000358301.3_Missense_Mutation_p.D55A|PAK4_ENST00000599470.1_Missense_Mutation_p.D55A|PAK4_ENST00000435673.2_Missense_Mutation_p.D55A|PAK4_ENST00000593690.1_Missense_Mutation_p.D55A NM_001014835.1 NP_001014835.1 O96013 PAK4_HUMAN p21 protein (Cdc42/Rac)-activated kinase 4 55 Linker. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity p.D55A(2) central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 13 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) CCCCTCGTCGACCCCGCCTGC 0.716000 6 11 0 0 0.105934 0 0 DICER1 23405 broad.mit.edu 37 14 95578531 95578531 + Silent SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr14:95578531G>A ENST00000526495.1 - 15 2385 c.2094C>T c.(2092-2094)tgC>tgT p.C698C DICER1_ENST00000541352.1_Silent_p.C698C|DICER1_ENST00000527414.1_Silent_p.C698C|DICER1_ENST00000343455.3_Silent_p.C698C|DICER1_ENST00000393063.1_Silent_p.C698C Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 698 Dicer dsRNA-binding fold. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity p.C698C(1) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GTTTCTCACAGCAAATGAGAG 0.343000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 3 53 0 0 0.150653 0 0 SCG2 7857 broad.mit.edu 37 2 224462881 224462881 + Missense_Mutation SNP T T G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr2:224462881T>G ENST00000305409.2 - 2 1352 c.1120A>C c.(1120-1122)Aag>Cag p.K374Q NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 374 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity p.K374Q(1) NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) CCATTCGGCTTCTCCCCAGTT 0.453000 42 39 0 0 0.092188 0 0 NCAPH2 29781 broad.mit.edu 37 22 50961504 50961504 + Missense_Mutation SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr22:50961504C>T ENST00000395701.3 + 19 1680 c.1586C>T c.(1585-1587)cCc>cTc p.P529L NCAPH2_ENST00000420993.2_Missense_Mutation_p.P529L|NCAPH2_ENST00000299821.11_Missense_Mutation_p.P530L Q6IBW4 CNDH2_HUMAN non-SMC condensin II complex, subunit H2 529 chromosome condensation chromosome|nucleus p.P529L(1) breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1) 24 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) TCACGGTTCCCCCAGCTCAAT 0.632000 8 6 0 0 0.038147 0 0 MSANTD3 91283 broad.mit.edu 37 9 103207491 103207491 + Silent SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr9:103207491C>T ENST00000374885.1 + 3 609 c.459C>T c.(457-459)atC>atT p.I153I MSANTD3_ENST00000489377.1_3'UTR|MSANTD3-TMEFF1_ENST00000502978.1_Intron|MSANTD3_ENST00000395067.2_Intron|TMEFF1_ENST00000334943.6_Intron NM_001198807.1 NP_001185736.1 Myb/SANT-like DNA-binding domain containing 3 p.I153I(1) endometrium(2)|lung(2) 4 AATTGTCAATCATCCTTTCTG 0.358000 11 18 0 0 0.080935 0 0 PRND 23627 broad.mit.edu 37 20 4705263 4705263 + Silent SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr20:4705263T>C ENST00000305817.2 + 2 137 c.66T>C c.(64-66)tcT>tcC p.S22S NM_012409.2 NP_036541.2 Q9UKY0 PRND_HUMAN prion protein 2 (dublet) 22 S -> P. protein homooligomerization anchored to membrane|plasma membrane p.S22S(1) breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 13 GCCACCTCTCTGCGGTCCAGA 0.627000 22 21 0 0 0.055883 0 0 PGBD1 84547 broad.mit.edu 37 6 28253402 28253402 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr6:28253402G>T ENST00000405948.2 + 3 891 c.471G>T c.(469-471)caG>caT p.Q157H PGBD1_ENST00000259883.3_Missense_Mutation_p.Q157H NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 157 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity p.Q157H(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 TGGAGTGTCAGAGCCTCCAGC 0.502000 18 24 2.4624e-09 2.86533e-09 0.049695 1 0 RIMS3 9783 broad.mit.edu 37 1 41101649 41101649 + Missense_Mutation SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:41101649T>C ENST00000372684.3 - 4 767 c.298A>G c.(298-300)Aca>Gca p.T100A RIMS3_ENST00000372683.1_Missense_Mutation_p.T100A NM_014747.2 NP_055562.2 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 100 neurotransmitter transport cell junction|synapse p.T100A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) CCCTGGCGTGTGACCCGGCTC 0.687000 6 46 0 0 0.029380 0 0 MVD 4597 broad.mit.edu 37 16 88721708 88721708 + Missense_Mutation SNP T T G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr16:88721708T>G ENST00000301012.3 - 7 825 c.796A>C c.(796-798)Acc>Ccc p.T266P NM_002461.1 NP_002452.1 P53602 MVD1_HUMAN mevalonate (diphospho) decarboxylase 266 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity p.T266P(1) endometrium(3)|large_intestine(1)|lung(7)|ovary(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.0478) TCGAGGCAGGTGGCGTGGAAC 0.647000 4 10 0 0 0.150653 0 0 ESRP1 54845 broad.mit.edu 37 8 95680478 95680478 + Splice_Site SNP G G C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:95680478G>C ENST00000433389.2 + 10 1423 c.1233_splice c.e10+1 p.Q411_splice ESRP1_ENST00000454170.2_Splice_Site_p.Q411_splice|ESRP1_ENST00000423620.2_Splice_Site_p.Q411_splice|ESRP1_ENST00000358397.5_Splice_Site_p.Q411_splice NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 411 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding p.Q411H(2) ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 AAGTTCAGCAGGTTGGTTTTA 0.368000 16 28 0 0 0.132662 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 5 88 0 0 0.014758 0 0 OTOGL 283310 broad.mit.edu 37 12 80761504 80761504 + Silent SNP A A C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr12:80761504A>C ENST00000458043.2 + 53 6474 c.6468A>C c.(6466-6468)tcA>tcC p.S2156S OTOGL_ENST00000546620.1_Silent_p.S175S|OTOGL_ENST00000547103.1_Silent_p.S2144S NM_173591.3 NP_775862.3 otogelin-like p.S2156S(1)|p.S521S(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TGAATTGTTCAAAAAAATGTG 0.328000 2 0 0 0 0.115264 0 0 PADI6 353238 broad.mit.edu 37 1 17720687 17720687 + RNA DEL G G - rs67226027 TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:17720687delG ENST00000434762.2 + 0 1233 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGGCCTCTGAGGGGGGAGGGG 0.587 9 2 --- --- --- --- TEX15 56154 broad.mit.edu 37 8 30701411 30701412 + Frame_Shift_Ins INS - - T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:30701411_30701412insT ENST00000256246.2 - 1 5196_5197 c.5122_5123insA c.(5122-5124)gcafs p.A1708fs NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1708 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTCTAAGTGCCTTTTTTTGTTT 0.376 7 130 --- --- --- --- RAD21 5885 broad.mit.edu 37 8 117869548 117869549 + Frame_Shift_Del DEL TA TA - rs143910582 by1000genomes TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:117869548_117869549delTA ENST00000297338.2 - 6 932_933 c.645_646delTA c.(643-648)taagfs p.YK215fs RAD21_ENST00000523547.1_5'UTR NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 215 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) TTATCATCCTTATATTGATCTT 0.327 48 86 --- --- --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs34222232 TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr9:139277995_139277997delGCT ENST00000298532.2 - 15 1992_1994 c.1624_1626delAGC c.(1624-1626)del p.S542del NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(2) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 4 3 --- --- --- --- FGFR2 2263 broad.mit.edu 37 10 123324018 123324020 + In_Frame_Del DEL TTG TTG - TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr10:123324018_123324020delTTG ENST00000358487.5 - 4 722_724 c.450_452delCAA c.(448-453)aag>aa p.NK150del FGFR2_ENST00000346997.2_In_Frame_Del_p.NK150del|FGFR2_ENST00000360144.3_In_Frame_Del_p.NK61del|FGFR2_ENST00000369061.4_In_Frame_Del_p.NK150del|FGFR2_ENST00000351936.6_In_Frame_Del_p.NK150del|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369060.4_In_Frame_Del_p.NK150del|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000357555.5_In_Frame_Del_p.NK61del|FGFR2_ENST00000369056.1_In_Frame_Del_p.NK150del|FGFR2_ENST00000457416.2_In_Frame_Del_p.NK150del|FGFR2_ENST00000359354.2_In_Frame_Del_p.NK150del NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 150 angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TTACTTACTCTTGTTGTTACTGT 0.507 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 20 93 --- --- --- --- BUD13 84811 broad.mit.edu 37 11 116633839 116633839 + Frame_Shift_Del DEL G G - TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr11:116633839delG ENST00000260210.4 - 4 489 c.466delC c.(466-468)gtfs p.R156fs BUD13_ENST00000375445.3_Frame_Shift_Del_p.R156fs NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 156 Arg-rich. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) GTGTCATGACGGGCCCTCCTA 0.587 52 110 --- --- --- --- DACT1 51339 broad.mit.edu 37 14 59113753 59113753 + Frame_Shift_Del DEL C C - TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr14:59113753delC ENST00000395153.3 + 4 2448 c.2301delC c.(2299-2301)cafs p.H767fs DACT1_ENST00000541264.2_Frame_Shift_Del_p.H523fs|DACT1_ENST00000335867.4_Frame_Shift_Del_p.H804fs|DACT1_ENST00000556859.1_Frame_Shift_Del_p.H523fs|DACT1_ENST00000395151.3_Frame_Shift_Del_p.H523fs NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 804 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 TTCACAACCACCCCGCAAAAA 0.502 33 49 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29676209 29676209 + Frame_Shift_Del DEL A A - TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr17:29676209delA ENST00000358273.4 + 49 7644 c.7261delA c.(7261-7263)acfs p.N2421fs NF1_ENST00000356175.3_Frame_Shift_Del_p.N2400fs|NF1_ENST00000444181.2_Frame_Shift_Del_p.N214fs|NF1_ENST00000417592.2_Frame_Shift_Del_p.N134fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2421 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) AACTCTGGTTAACAAACACAG 0.343 """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) 10 15 --- --- --- --- IGLC3 3539 broad.mit.edu 37 22 23248852 23248852 + RNA DEL A A - rs71797740 TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr22:23248852delA ENST00000390325.2 + 0 341 CTCACCCCCCACCACGGGAGA 0.572 6 7 --- --- --- --- PLXNB2 23654 broad.mit.edu 37 22 50718982 50718982 + Frame_Shift_Del DEL T T - TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr22:50718982delT ENST00000449103.1 - 25 4251 c.4111delA c.(4111-4113)cgfs p.T1371fs PLXNB2_ENST00000359337.4_Frame_Shift_Del_p.T1371fs O15031 PLXB2_HUMAN plexin B2 1371 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AGGAAGAGCGTGTGCATGATG 0.657 22 30 --- --- --- ---