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 RASGRP2 10235 broad.mit.edu 37 11 64494798 64494798 + Missense_Mutation SNP A A T TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr11:64494798A>T ENST00000377494.1 - 15 2731 c.1809T>A c.(1807-1809)gaT>gaA p.D603E RASGRP2_ENST00000377497.3_Missense_Mutation_p.D602E|RASGRP2_ENST00000394432.3_Missense_Mutation_p.D602E|RASGRP2_ENST00000354024.3_Missense_Mutation_p.D602E Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 602 platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CAAACACCCCATCCTCCACCG 0.592000 4 80 0 0 1 0 0 GBA 2629 broad.mit.edu 37 1 155207218 155207218 + Missense_Mutation SNP G G A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr1:155207218G>A ENST00000428024.2 - 6 1154 c.652C>T c.(652-654)Cct>Tct p.P218S GBA_ENST00000327247.5_Missense_Mutation_p.P305S|GBA_ENST00000427500.2_Missense_Mutation_p.P256S|GBA_ENST00000536770.1_Missense_Mutation_p.P192S|GBA_ENST00000368373.3_Missense_Mutation_p.P305S NM_001171811.1 NP_001165282.1 P04062 GLCM_HUMAN glucosidase, beta, acid 305 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) GCGAGGGTAGGACCTAGGTCA 0.572000 Gaucher disease type I 14 40 0 0 1 0 0 KLHL42 57542 broad.mit.edu 37 12 27950726 27950726 + Missense_Mutation SNP G G A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr12:27950726G>A ENST00000381271.2 + 3 1456 c.1145G>A c.(1144-1146)cGc>cAc p.R382H NM_020782.1 NP_065833.1 kelch-like family member 42 GTCCACATTCGCAAGCAGCAG 0.542000 6 279 0 0 1 0 0 DMC1 11144 broad.mit.edu 37 22 38916082 38916082 + Silent SNP A A T TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr22:38916082A>T ENST00000216024.2 - 14 1242 c.966T>A c.(964-966)ccT>ccA p.P322P DMC1_ENST00000428462.2_Silent_p.P267P NM_007068.2 NP_008999.2 Q14565 DMC1_HUMAN DNA meiotic recombinase 1 322 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) CTTCATTTTCAGGCATCTCAG 0.403000 Homologous recombination 3 53 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38643532 38643532 + Missense_Mutation SNP G G C TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr19:38643532G>C ENST00000222345.6 + 13 4095 c.3586G>C c.(3586-3588)Gat>Cat p.D1196H NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1196 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CTTCAGCCACGATGGGACGTC 0.632000 5 137 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3214432 3214432 + Missense_Mutation SNP T T G TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr4:3214432T>G ENST00000355072.5 + 49 6915 c.6770T>G c.(6769-6771)cTt>cGt p.L2257R NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2257 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GTGGCAACCCTTGAGGTAAGA 0.527000 4 62 0 0 1 0 0 HIST1H2BD 3017 broad.mit.edu 37 6 26158564 26158564 + Missense_Mutation SNP C C G TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr6:26158564C>G ENST00000289316.2 + 1 191 c.167C>G c.(166-168)tCt>tGt p.S56C HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S56C NM_138720.2 NP_619790.1 P58876 H2B1D_HUMAN histone cluster 1, H2bd 56 nucleosome assembly nucleosome|nucleus DNA binding breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 24 ACCGGCATCTCTTCCAAGGCA 0.567000 4 223 0 0 1 0 0 THAP7-AS1 439931 broad.mit.edu 37 22 21363349 21363349 + RNA SNP A A G TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr22:21363349A>G ENST00000452284.1 + 0 1016 TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000436079.1_RNA NR_027051.1 TATGGCACCAAGTTGGTTTGG 0.582000 4 58 0 0 1 0 0 MTM1 4534 broad.mit.edu 37 X 149807485 149807485 + Missense_Mutation SNP G G A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chrX:149807485G>A ENST00000370396.2 + 7 568 c.514G>A c.(514-516)Gaa>Aaa p.E172K MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_Missense_Mutation_p.E77K|MTM1_ENST00000413012.2_Missense_Mutation_p.E135K|MTM1_ENST00000543350.1_Missense_Mutation_p.E57K NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 172 Myotubularin phosphatase. endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) TCCAGTGGAAGAATACAGGAG 0.353000 4 141 0 0 1 0 0 MAP1S 55201 broad.mit.edu 37 19 17831773 17831773 + Silent SNP C C T TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr19:17831773C>T ENST00000324096.4 + 2 298 c.147C>T c.(145-147)ggC>ggT p.G49G MAP1S_ENST00000544059.2_Silent_p.G23G|MAP1S_ENST00000597681.1_Intron NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 49 Necessary for the microtubule-organizing center localization. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 TCGATCCTGGCGTCTGCAACC 0.572000 10 176 0 0 1 0 0 C17orf80 55028 broad.mit.edu 37 17 71232433 71232433 + Missense_Mutation SNP C C T TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr17:71232433C>T ENST00000359042.2 + 3 1006 c.812C>T c.(811-813)cCa>cTa p.P271L C17orf80_ENST00000426147.2_Missense_Mutation_p.P271L|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000577615.1_Missense_Mutation_p.P271L|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000255557.4_Missense_Mutation_p.P271L|C17orf80_ENST00000268942.8_Missense_Mutation_p.P271L|C17orf80_ENST00000535032.2_Missense_Mutation_p.P271L NM_017941.4 NP_060411.2 Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 271 integral to membrane kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) ACTGAGACTCCAGAAAAGAAC 0.413000 3 32 0 0 1 0 0 OR1J1 347168 broad.mit.edu 37 9 125239396 125239396 + Silent SNP C C T TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr9:125239396C>T ENST00000259357.2 - 1 839 c.810G>A c.(808-810)aaG>aaA p.K270K NM_001004451.1 NP_001004451.1 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, member 1 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16 CAATTATGTTCTTGTCATTGG 0.418000 4 166 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24104120 24104120 + Missense_Mutation SNP G G T TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr16:24104120G>T ENST00000303531.7 + 6 690 c.538G>T c.(538-540)Gct>Tct p.A180S PRKCB_ENST00000321728.7_Missense_Mutation_p.A180S|PRKCB_ENST00000482000.1_3'UTR NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 180 C2. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) AGTAAGAGATGCTAAAAACCT 0.418000 5 115 0.000602214 0.00062298 1 1 0 LEPREL1 55214 broad.mit.edu 37 3 189704595 189704595 + Silent SNP C C A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr3:189704595C>A ENST00000319332.5 - 6 1367 c.1170G>T c.(1168-1170)ggG>ggT p.G390G LEPREL1_ENST00000427335.2_Silent_p.G209G NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 390 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TGTATGAAAACCCCAGACCTT 0.353000 10 173 7.03913e-09 7.82125e-09 1 1 0 TRO 7216 broad.mit.edu 37 X 54949634 54949634 + Silent SNP G G A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chrX:54949634G>A ENST00000173898.7 + 3 781 c.669G>A c.(667-669)tcG>tcA p.S223S TRO_ENST00000375022.4_Silent_p.S223S|TRO_ENST00000375041.2_Intron|TRO_ENST00000420798.2_Intron|TRO_ENST00000484031.1_Intron|TRO_ENST00000319167.8_Silent_p.S223S|TRO_ENST00000399736.1_Intron NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 223 embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 CCGAGGTCTCGCTGGCTGCAA 0.522000 3 28 0 0 1 0 0 OR4K15 81127 broad.mit.edu 37 14 20444562 20444562 + Silent SNP T T G TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr14:20444562T>G ENST00000305051.5 + 1 960 c.885T>G c.(883-885)ctT>ctG p.L295L NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) ACAAAGTCCTTGCTGTATTCT 0.418000 4 133 0 0 1 0 0 AP4M1 9179 broad.mit.edu 37 7 99701079 99701079 + Silent SNP C C T TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr7:99701079C>T ENST00000429084.1 + 5 578 c.420C>T c.(418-420)ttC>ttT p.F140F AP4M1_ENST00000421755.1_Silent_p.F133F|AP4M1_ENST00000422582.1_Silent_p.F5F|AP4M1_ENST00000359593.4_Silent_p.F133F O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 133 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGAGGAATTTCATCCAGACGG 0.517000 4 93 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2017138 2017138 + Silent SNP G G A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr12:2017138G>A ENST00000382722.5 - 5 914 c.552C>T c.(550-552)ggC>ggT p.G184G CACNA2D4_ENST00000586184.1_Silent_p.G184G|CACNA2D4_ENST00000587995.1_Silent_p.G184G|CACNA2D4_ENST00000585732.1_Silent_p.G184G|CACNA2D4_ENST00000585708.1_Silent_p.G120G|CACNA2D4_ENST00000588077.1_Silent_p.G120G NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 184 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GGAACTCGGCGCCCAGCTCCA 0.602000 4 68 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31342749 31342749 + Missense_Mutation SNP C C A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr15:31342749C>A ENST00000542188.1 - 11 1664 c.1351G>T c.(1351-1353)Gcc>Tcc p.A451S TRPM1_ENST00000256552.6_Missense_Mutation_p.A434S|TRPM1_ENST00000397795.2_Missense_Mutation_p.A412S NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 412 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TTCTCCGTGGCTTTGCTGTCC 0.557000 3 39 0.115264 0.115264 1 1 0 CAMTA1 23261 broad.mit.edu 37 1 7725039 7725039 + Missense_Mutation SNP G G A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr1:7725039G>A ENST00000303635.7 + 9 2639 c.2432G>A c.(2431-2433)cGg>cAg p.R811Q CAMTA1_ENST00000439411.2_Missense_Mutation_p.R811Q NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 811 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GACGGGGCGCGGGCCCCCTTC 0.687000 T WWTR1 epitheliod hemangioendothelioma 6 160 0 0 1 0 0 ZNF599 148103 broad.mit.edu 37 19 35251041 35251041 + Missense_Mutation SNP G G A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr19:35251041G>A ENST00000329285.7 - 4 1038 c.665C>T c.(664-666)gCt>gTt p.A222V NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) CTTCACTCCAGCATGAATCTG 0.478000 4 180 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70818186 70818186 + Missense_Mutation SNP A A G TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr5:70818186A>G ENST00000358731.4 + 23 5325 c.5062A>G c.(5062-5064)Aat>Gat p.N1688D BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 1688 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GGCTAAGCCAAATTTGGGAAG 0.383000 4 174 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77258626 77258626 + Missense_Mutation SNP C C G TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chrX:77258626C>G ENST00000341514.6 + 6 1755 c.1600C>G c.(1600-1602)Cct>Gct p.P534A ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.P534A NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 534 HMA 5. ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 AAGGTATAATCCTGCTGTTAT 0.393000 9 313 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 66982411 66982411 + Missense_Mutation SNP G G A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr17:66982411G>A ENST00000340001.4 - 32 4313 c.4102C>T c.(4102-4104)Cct>Tct p.P1368S ABCA9_ENST00000453985.2_Missense_Mutation_p.P1330S|ABCA9_ENST00000370732.2_Missense_Mutation_p.P1368S NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1368 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) TTCTCCTGAGGGCAGTACCCC 0.537000 18 56 0 0 1 0 0 RFPL1 5988 broad.mit.edu 37 22 29837976 29837976 + Silent SNP C C A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr22:29837976C>A ENST00000354373.2 + 2 1028 c.819C>A c.(817-819)gtC>gtA p.V273V RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 273 B30.2/SPRY. zinc ion binding p.V273V(2) endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 TCAGGAGTGTCTCTGCTGAGG 0.468000 4 63 3.59834e-05 3.85536e-05 1 1 0 HSPD1P6 645548 broad.mit.edu 37 3 36810381 36810382 + RNA DEL TT TT - TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr3:36810381_36810382delTT ENST00000424886.1 - 0 404_405 GAGTGAGGCCttttttttttta 0.545 2 4 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88767683 88767683 + RNA DEL A A - rs72036564 TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr10:88767683delA ENST00000444431.1 + 0 2711 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CAGAAAATGTATCtttttttt 0.413 2 4 --- --- --- --- ADAMTS8 11095 broad.mit.edu 37 11 130297993 130297993 + Frame_Shift_Del DEL G G - TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr11:130297993delG ENST00000257359.6 - 1 895 c.189delC c.(187-189)ggfs p.G63fs NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 63 negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GCAGCACGAAGCCCTTGCCGA 0.776 2 4 --- --- --- --- DBNDD1 79007 broad.mit.edu 37 16 90072754 90072754 + Frame_Shift_Del DEL G G - TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr16:90072754delG ENST00000392973.3 - 3 1215 c.484delC c.(484-486)agfs p.Q162fs DBNDD1_ENST00000304733.3_Frame_Shift_Del_p.Q176fs|DBNDD1_ENST00000568838.1_Frame_Shift_Del_p.Q276fs|DBNDD1_ENST00000002501.6_Frame_Shift_Del_p.Q156fs Q9H9R9 DBND1_HUMAN dysbindin (dystrobrevin binding protein 1) domain containing 1 156 cytoplasm kidney(1)|large_intestine(1)|lung(1) 3 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0275) TAGTCCTCCTGGGGCCTCTCC 0.637 2 4 --- --- --- ---