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 ERC2 26059 broad.mit.edu 37 3 56468821 56468821 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr3:56468821G>A uc021wzo.1 - 0 355 c.215C>T c.(214-216)tCa>tTa p.S72L ERC2_uc003dhr.1_Missense_Mutation_p.S72L NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 72 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GTAGGTTGTTGAAGCCACCCC 0.507000 4 215 0 0 1 0 0 EDA 1896 broad.mit.edu 37 X 69253267 69253267 + Silent SNP C C T TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chrX:69253267C>T uc004dxs.3 + 6 1055 c.813C>T c.(811-813)ctC>ctT p.L271L EDA_uc011mpj.2_Silent_p.L268L|EDA_uc004dxr.3_Silent_p.L271L NM_001399 NP_001390 Q92838 EDA_HUMAN Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA. 271 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 GTGGAGTGCTCAATGACTGGT 0.478000 OREG0019847 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 273 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38352357 38352357 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr5:38352357G>A uc003jlc.2 + 4 815 c.469G>A c.(469-471)Gag>Aag p.E157K EGFLAM_uc003jlb.2_Missense_Mutation_p.E157K NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 157 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse p.E157D(1) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TTCGGATTCTGAGGTGGCCCT 0.507000 18 188 0 0 1 0 0 RASGRP1 10125 broad.mit.edu 37 15 38810529 38810529 + Missense_Mutation SNP T T G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr15:38810529T>G uc001zke.4 - 4 663 c.485A>C c.(484-486)gAg>gCg p.E162A RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Missense_Mutation_p.E24A|RASGRP1_uc010bbg.3_Missense_Mutation_p.E24A|RASGRP1_uc001zkd.4_Missense_Mutation_p.E162A NM_005739 NP_005730 O95267 GRP1_HUMAN Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA. 162 N-terminal Ras-GEF. Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) ATGTAACTCCTCACCCTTAGC 0.443000 17 13 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36334403 36334403 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr19:36334403G>A uc002oby.3 - 16 2461 c.2305C>T c.(2305-2307)Ctc>Ttc p.L769F NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 769 Ig-like C2-type 7. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ATGCCCGGGAGGATGGGATTG 0.572000 5 357 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37882044 37882044 + Missense_Mutation SNP A A G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr17:37882044A>G uc002hso.3 + 22 3048 c.2810A>G c.(2809-2811)aAg>aGg p.K937R ERBB2_uc010cwa.3_Missense_Mutation_p.K922R|ERBB2_uc002hsm.3_Missense_Mutation_p.K907R|ERBB2_uc002hsp.3_Missense_Mutation_p.K740R|ERBB2_uc010cwb.3_Missense_Mutation_p.K937R|ERBB2_uc010wek.2_Missense_Mutation_p.K661R|MIR4728_uc021twt.1_5'Flank NM_004448 NP_001005862 P04626 ERBB2_HUMAN Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA. 937 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CTGCTGGAAAAGGGGGAGCGG 0.592000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 4 117 0 0 1 0 0 C15orf27 123591 broad.mit.edu 37 15 76467946 76467946 + Silent SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr15:76467946G>A uc002bbq.3 + 7 854 c.699G>A c.(697-699)caG>caA p.Q233Q C15orf27_uc010bkp.3_Silent_p.Q49Q|C15orf27_uc002bbr.3_Silent_p.Q49Q NM_152335 NP_689548 Q2M3C6 CO027_HUMAN Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA. 233 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 TTATCCAGCAGTACGAGAAGG 0.552000 3 102 0 0 1 0 0 ABI2 10152 broad.mit.edu 37 2 204259430 204259430 + Missense_Mutation SNP T T C TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr2:204259430T>C uc002vaa.3 + 5 821 c.586T>C c.(586-588)Tcc>Ccc p.S196P ABI2_uc010zig.1_Intron|ABI2_uc010zij.2_Missense_Mutation_p.S134P|ABI2_uc002uzz.3_Missense_Mutation_p.S190P|ABI2_uc010zih.2_Intron|ABI2_uc010zii.2_Missense_Mutation_p.S190P|ABI2_uc002vab.3_Missense_Mutation_p.S145P|ABI2_uc010zik.2_Intron|ABI2_uc010zil.2_Missense_Mutation_p.S31P|ABI2_uc010zim.2_Intron|ABI2_uc002vac.3_Intron|ABI2_uc010zin.2_5'UTR NM_005759 NP_005750 Q9NYB9 ABI2_HUMAN Homo sapiens abl-interactor 2 (ABI2), mRNA. 196 Pro-rich. actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation cytoskeleton|cytosol|filopodium|lamellipodium DNA binding|SH3 domain binding|cytoskeletal adaptor activity|kinase binding|proline-rich region binding|ubiquitin protein ligase binding breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 15 TAGGCGGCACTCCCCCTATCG 0.473000 3 190 0 0 1 0 0 DDX18 8886 broad.mit.edu 37 2 118583110 118583110 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr2:118583110G>A uc002tlh.1 + 9 1555 c.1456G>A c.(1456-1458)Gcg>Acg p.A486T NM_006773 NP_006764 Q9NVP1 DDX18_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA. 486 Helicase C-terminal. ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GGATGTGGCAGCGAGAGGACT 0.433000 3 131 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21562776 21562776 + Silent SNP C C A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr13:21562776C>A uc009zzs.3 - 3 1508 c.1143G>T c.(1141-1143)ctG>ctT p.L381L LATS2_uc001unr.4_Silent_p.L381L NM_014572 NP_055387 Q9NRM7 LATS2_HUMAN Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA. 381 G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CCGGCTTCTGCAGGGAGTCCC 0.701000 3 39 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128193188 128193188 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr10:128193188G>A uc010qum.2 - 3 902 c.872C>T c.(871-873)gCc>gTc p.A291V C10orf90_uc001ljp.3_Missense_Mutation_p.A147V|C10orf90_uc001ljq.3_Missense_Mutation_p.A194V|C10orf90_uc009yao.2_Missense_Mutation_p.A291V|C10orf90_uc001ljs.1_Missense_Mutation_p.A147V NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA. 194 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) CTCTGTGCAGGCAAAAGATCT 0.612000 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 153 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168352394 168352394 + Missense_Mutation SNP C C G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr6:168352394C>G uc021zik.1 + 28 4535 c.4216C>G c.(4216-4218)Cag>Gag p.Q1406E MLLT4_uc003qwb.1_Missense_Mutation_p.Q1431E|MLLT4_uc003qwc.2_Missense_Mutation_p.Q1447E|MLLT4_uc021zij.1_Missense_Mutation_p.Q1430E|MLLT4_uc021zim.1_Missense_Mutation_p.Q993E|MLLT4_uc003qwg.1_Missense_Mutation_p.Q756E NM_001040000 NP_001035089 P55196 AFAD_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA. 1447 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) GATGCGCACTCAGTCCTTAAA 0.577000 T MLL AL 17 263 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61542301 61542301 + Missense_Mutation SNP C C T TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr20:61542301C>T uc002ydr.2 - 2 976 c.664G>A c.(664-666)Gat>Aat p.D222N DIDO1_uc002yds.2_Missense_Mutation_p.D222N|DIDO1_uc002ydt.2_Missense_Mutation_p.D222N|DIDO1_uc002ydu.2_Missense_Mutation_p.D222N|DIDO1_uc002ydv.2_Missense_Mutation_p.D222N|DIDO1_uc002ydw.2_Missense_Mutation_p.D222N|DIDO1_uc002ydx.2_Missense_Mutation_p.D222N|DIDO1_uc011aao.1_Missense_Mutation_p.D222N NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 222 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ACCCCCTGATCGTTCTCGGGC 0.622000 4 72 0 0 1 0 0 RBBP4 5928 broad.mit.edu 37 1 33123032 33123032 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr1:33123032G>A uc001bvr.3 + 2 328 c.169G>A c.(169-171)Gaa>Aaa p.E57K RBBP4_uc001bvs.3_Missense_Mutation_p.E56K|RBBP4_uc010ohj.2_Intron|RBBP4_uc010ohk.2_Missense_Mutation_p.E22K NM_005610 NP_001128728 Q09028 RBBP4_HUMAN Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA. 57 CenH3-containing nucleosome assembly at centromere|DNA replication|cell cycle|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NURF complex|NuRD complex|Sin3 complex histone binding|histone deacetylase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) TTACAGACCAGAAGGGAAAGA 0.413000 6 107 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957624 12957624 + Missense_Mutation SNP C C G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr8:12957624C>G uc003wwm.2 - 8 2666 c.2222G>C c.(2221-2223)aGc>aCc p.S741T DLC1_uc003wwk.1_Missense_Mutation_p.S304T|DLC1_uc003wwl.1_Missense_Mutation_p.S338T|DLC1_uc011kxx.1_Missense_Mutation_p.S230T NM_182643 NP_872584 Q96QB1 RHG07_HUMAN Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA. 741 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GCTGCTGCTGCTGGTCTGCGT 0.627000 3 98 0 0 1 0 0 DYRK1B 9149 broad.mit.edu 37 19 40318234 40318234 + Silent SNP G G A rs78838108 byFrequency TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr19:40318234G>A uc002omj.3 - 6 1150 c.870C>T c.(868-870)taC>taT p.Y290Y DYRK1B_uc002omi.3_Silent_p.Y290Y|DYRK1B_uc002omk.3_Silent_p.Y290Y NM_004714 NP_004705 Q9Y463 DYR1B_HUMAN Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA. 290 Protein kinase. positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) TGGCCAGGTCGTAGGGTGTGC 0.597000 3 116 0 0 1 0 0 ZBTB3 79842 broad.mit.edu 37 11 62520401 62520401 + Silent SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr11:62520401G>A uc001nuz.3 - 1 1008 c.886C>T c.(886-888)Ctg>Ttg p.L296L NM_024784 NP_079060 Q9H5J0 ZBTB3_HUMAN Homo sapiens zinc finger and BTB domain containing 3 (ZBTB3), mRNA. 296 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 AGAGATGGCAGTGGCTCCAAT 0.542000 3 88 0 0 1 0 0 IRF4 3662 broad.mit.edu 37 6 407546 407546 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr6:407546G>A uc003msz.4 + 8 1430 c.1304G>A c.(1303-1305)aGc>aAc p.S435N IRF4_uc003mtb.4_Missense_Mutation_p.S434N|IRF4_uc021ykl.1_Missense_Mutation_p.S281N|IRF4_uc003mta.4_Non-coding_Transcript NM_002460 NP_002451 Q15306 IRF4_HUMAN Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA. 435 T cell activation|interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) GAACACATCAGCAATCCAGAA 0.353000 T IGH@ MM 3 67 0 0 1 0 0 SYTL4 94121 broad.mit.edu 37 X 99942164 99942164 + Missense_Mutation SNP A A G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chrX:99942164A>G uc004egd.4 - 12 1440 c.1084T>C c.(1084-1086)Ttt>Ctt p.F362L SYTL4_uc010nnb.3_Missense_Mutation_p.F34L|SYTL4_uc010nnc.3_Missense_Mutation_p.F362L|SYTL4_uc004ege.4_Missense_Mutation_p.F362L|SYTL4_uc004egf.4_Missense_Mutation_p.F362L|SYTL4_uc004egg.4_3'UTR NM_080737 NP_542775 Q96C24 SYTL4_HUMAN Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA. 362 C2 1. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTCAGGGAAAAGGCAATCCTG 0.502000 3 114 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55659057 55659057 + Silent SNP T T C TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr11:55659057T>C uc010rip.2 + 6 1400 c.1308T>C c.(1306-1308)aaT>aaC p.N436N TRIM51_uc010riq.2_Silent_p.N293N NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA. 436 B30.2/SPRY. intracellular zinc ion binding CCATCCCCAATTGCTCCTTCT 0.453000 12 198 0 0 1 0 0 GPAM 57678 broad.mit.edu 37 10 113920471 113920471 + Silent SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr10:113920471G>A uc009xxy.2 - 15 1860 c.1650C>T c.(1648-1650)agC>agT p.S550S GPAM_uc001kzp.3_Silent_p.S550S|GPAM_uc001kzq.1_Silent_p.S550S NM_020918 NP_065969 Q9HCL2 GPAT1_HUMAN Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 550 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) CATCGTTCCTGCTAGTGTGGG 0.458000 38 51 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65871028 65871028 + Missense_Mutation SNP G G C TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr17:65871028G>C uc002jgf.3 + 3 1817 c.1756G>C c.(1756-1758)Gac>Cac p.D586H BPTF_uc002jge.3_Missense_Mutation_p.D586H|BPTF_uc010wqm.1_Missense_Mutation_p.D586H NM_182641 NP_872579 Q12830 BPTF_HUMAN Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA. 699 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex|cytoplasm sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GACTGAGAATGACTCTAAAGA 0.373000 4 48 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44815233 44815233 + Missense_Mutation SNP T T C TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr20:44815233T>C uc002xrm.2 - 8 2056 c.1657A>G c.(1657-1659)Atc>Gtc p.I553V CDH22_uc010ghk.1_Missense_Mutation_p.I553V NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN Homo sapiens cadherin 22, type 2 (CDH22), mRNA. 553 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) TCACCTTGGATGTCAAGCAGA 0.592000 5 132 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38591931 38591931 + Missense_Mutation SNP C C G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr3:38591931C>G uc021wvo.1 - 26 5984 c.5932G>C c.(5932-5934)Gac>Cac p.D1978H SCN5A_uc021wvk.1_Missense_Mutation_p.D1945H|SCN5A_uc021wvl.1_Missense_Mutation_p.D1924H|SCN5A_uc021wvm.1_Missense_Mutation_p.D1960H|SCN5A_uc021wvn.1_Missense_Mutation_p.D1977H|SCN5A_uc021wvp.1_Missense_Mutation_p.D1978H|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.D1790H|SCN5A_uc021wvi.1_Missense_Mutation_p.D1844H NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1978 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GTGACACTGTCATAGGAGGGT 0.602000 3 74 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169494626 169494626 + Missense_Mutation SNP T T A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr5:169494626T>A uc003maf.3 + 44 4660 c.4580T>A c.(4579-4581)cTc>cAc p.L1527H DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.L1019H|DOCK2_uc003mah.3_Missense_Mutation_p.L83H NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 1527 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding p.L1527H(2) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCAACCCACTCTCCATGCTC 0.522000 4 127 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 101017574 101017574 + Missense_Mutation SNP C C G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr9:101017574C>G uc011lvb.2 - 0 430 c.250G>C c.(250-252)Gct>Cct p.A84P TBC1D2_uc004ayq.3_Missense_Mutation_p.A84P|TBC1D2_uc004ayr.3_5'UTR NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA. 84 Interaction with CADH1.|PH. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) GCATCCTGAGCGGTCCGCGAG 0.542000 7 97 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7640590 7640590 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr12:7640590G>A uc001qsz.3 - 6 1642 c.1514C>T c.(1513-1515)tCg>tTg p.S505L CD163_uc001qta.3_Missense_Mutation_p.S505L|CD163_uc009zfw.2_Missense_Mutation_p.S505L NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 505 SRCR 5. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.S505*(2) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AGAGAAGTCCGAATCACAGAT 0.537000 3 80 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153599581 153599581 + Silent SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chrX:153599581G>A uc004fkk.2 - 1 282 c.33C>T c.(31-33)agC>agT p.S11S FLNA_uc010nuu.1_Silent_p.S11S NM_001110556 NP_001104026 P21333 FLNA_HUMAN Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA. 11 Actin-binding. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGCCTGCTGCGCTCTGGCCCG 0.701000 4 2 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30507512 30507512 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr16:30507512G>A uc002dyi.4 + 13 1774 c.1598G>A c.(1597-1599)gGc>gAc p.G533D ITGAL_uc002dyj.4_Missense_Mutation_p.G450D|ITGAL_uc010vev.2_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA. 533 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex cell adhesion molecule binding|receptor activity p.N532K(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GACATCAACGGCGATGGGCTG 0.617000 6 243 0 0 1 0 0 LIPT1 51601 broad.mit.edu 37 2 99778836 99778836 + Missense_Mutation SNP C C G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr2:99778836C>G uc002szp.4 + 2 577 c.539C>G c.(538-540)gCt>gGt p.A180G MRPL30_uc002szl.1_Intron|LIPT1_uc002szm.4_Missense_Mutation_p.A139G|LIPT1_uc002szn.4_Missense_Mutation_p.A139G|LIPT1_uc002szo.4_Missense_Mutation_p.A139G|LIPT1_uc002szq.4_Missense_Mutation_p.A139G|MRPL30_uc002szr.3_Intron|LIPT1_uc021vln.1_Missense_Mutation_p.A139G|LIPT1_uc021vlo.1_Missense_Mutation_p.A139G|LIPT1_uc021vlp.1_Missense_Mutation_p.A139G NM_145199 NP_660200 Q9Y234 LIPT_HUMAN Homo sapiens lipoyltransferase 1 (LIPT1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA. 139 lipid metabolic process|protein lipoylation mitochondrion acyltransferase activity large_intestine(6)|lung(1) 7 Lipoic Acid(DB00166) GCTCTGAATGCTGTCCAACCC 0.383000 5 76 0 0 1 0 0 TMEM225 338661 broad.mit.edu 37 11 123753862 123753862 + Missense_Mutation SNP C C T TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr11:123753862C>T uc001pzi.3 - 3 869 c.661G>A c.(661-663)Gta>Ata p.V221I NM_001013743 NP_001013765 Q6GV28 TM225_HUMAN Homo sapiens transmembrane protein 225 (TMEM225), mRNA. 221 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 GCCCAGGTTACGTGACGTGTT 0.423000 35 63 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129207071 129207071 + Missense_Mutation SNP T T C TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr3:129207071T>C uc003ems.3 + 0 38 c.20T>C c.(19-21)tTc>tCc p.F7S IFT122_uc003eml.3_Intron|IFT122_uc003emm.3_Intron|IFT122_uc003emn.3_Intron|IFT122_uc003emo.3_Intron|IFT122_uc003emp.3_Intron|IFT122_uc010htc.3_Intron|IFT122_uc011bky.2_Intron|IFT122_uc011bla.2_Intron|IFT122_uc003emr.3_Intron|IFT122_uc010hte.3_Intron|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Intron|IFT122_uc010htd.1_Intron NM_052990 NP_443716 Q9HBG6 IF122_HUMAN Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 4, mRNA. 608 W -> C (in CED1). camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 AAAACAGTCTTCTTTTTTTCC 0.522000 28 23 0 0 1 0 0 DPP7 29952 broad.mit.edu 37 9 140006389 140006389 + Silent SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr9:140006389G>A uc004clh.3 - 9 1173 c.1143C>T c.(1141-1143)taC>taT p.Y381Y NM_013379 NP_037511 Q9UHL4 DPP2_HUMAN Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA. 381 cytoplasmic membrane-bounded vesicle|extracellular region|lysosome aminopeptidase activity|protein binding|serine-type peptidase activity endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633) TGTCCAGGCAGTACCGCTGGC 0.657000 3 78 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35870639 35870639 + Missense_Mutation SNP A A G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr1:35870639A>G uc001byt.3 + 23 3624 c.3544A>G c.(3544-3546)Ata>Gta p.I1182V ZMYM4_uc009vuu.3_Missense_Mutation_p.I1150V|ZMYM4_uc001byu.3_Missense_Mutation_p.I858V|ZMYM4_uc009vuv.3_Missense_Mutation_p.I921V NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA. 1182 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GAAGAAGTCTATAGTGGCTGT 0.413000 7 112 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19677526 19677526 + Missense_Mutation SNP G G T TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr20:19677526G>T uc002wrl.3 + 13 1774 c.1577G>T c.(1576-1578)tGc>tTc p.C526F NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA. 526 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GTGCCTGACTGCATGGCCAGC 0.597000 5 126 0 0 1 0 0 UBASH3B 84959 broad.mit.edu 37 11 122659906 122659906 + Silent SNP C C T TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr11:122659906C>T uc001pyi.4 + 5 1230 c.870C>T c.(868-870)agC>agT p.S290S NM_032873 NP_116262 Q8TF42 UBS3B_HUMAN Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA. 290 SH3. cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) AGCAGACCAGCACCAGCGAGG 0.532000 6 437 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 31 45 0 0 1 0 0 GPR78 27201 broad.mit.edu 37 4 8588779 8588779 + Splice_Site SNP A A T TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr4:8588779A>T uc003glk.3 + 3 1276 c.783_splice c.e3-2 p.R261_splice GPR78_uc021xlj.1_Splice_Site|CPZ_uc003gll.3_Intron NM_080819 NP_543009 Q96P69 GPR78_HUMAN Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA. 261 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 CTTCCCCAACAGGCTGGCGGA 0.627000 34 63 0 0 1 0 0 FAM70B 348013 broad.mit.edu 37 13 114469169 114469169 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr13:114469169G>A uc001vuh.3 + 1 155 c.128G>A c.(127-129)gGg>gAg p.G43E FAM70B_uc010tkh.2_Missense_Mutation_p.G43E NM_182614 NP_872420 Q8WV15 FA70B_HUMAN Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA. 43 integral to membrane upper_aerodigestive_tract(1) 1 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) GTCACCGTCGGGCTGGCTGCC 0.652000 68 85 0 0 1 0 0 WDR7 23335 broad.mit.edu 37 18 54362346 54362346 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr18:54362346G>A uc002lgk.1 + 10 1485 c.1274G>A c.(1273-1275)cGt>cAt p.R425H WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Missense_Mutation_p.R425H NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA. 425 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) GTTTGTGGTCGTGAAGATGGA 0.448000 3 104 0 0 1 0 0 C1QA 712 broad.mit.edu 37 1 22965567 22965567 + Silent SNP G G C TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr1:22965567G>C uc001bfy.3 + 2 490 c.405G>C c.(403-405)acG>acC p.T135T NM_015991 NP_057075 P02745 C1QA_HUMAN Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA. 135 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex autonomic_ganglia(1)|liver(1)|lung(3)|skin(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCTTCGACACGGTCATCACCA 0.602000 3 67 0 0 1 0 0