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 OR4D1 26689 broad.mit.edu 37 17 56233157 56233157 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr17:56233157C>T ENST00000268912.5 + 1 664 c.643C>T c.(643-645)Ctg>Ttg p.L215L NM_012374.1 NP_036506.1 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, member 1 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L215L(1) kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 CCTCCTCCTTCTGATCTCTTA 0.537000 56 56 0 0 0.870114 0 0 PDK2 5164 broad.mit.edu 37 17 48174834 48174834 + Missense_Mutation SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr17:48174834G>C ENST00000503176.1 + 2 327 c.166G>C c.(166-168)Gag>Cag p.E56Q PDK2_ENST00000007708.3_5'UTR NM_002611.4 NP_002602.2 Q15119 PDK2_HUMAN pyruvate dehydrogenase kinase, isozyme 2 56 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|nucleus ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity p.E56Q(1) central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 20 CCTCAGGCAGGAGCTGCCTGT 0.572000 Autosomal Dominant Polycystic Kidney Disease 35 63 0 0 0.819951 0 0 CDON 50937 broad.mit.edu 37 11 125891384 125891384 + Silent SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr11:125891384G>C ENST00000392693.3 - 3 235 c.108C>G c.(106-108)ctC>ctG p.L36L CDON_ENST00000263577.7_Silent_p.L36L NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 36 Ig-like C2-type 1. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding p.L36L(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) GGACAGCAGAGAGCGGCTCAG 0.448000 16 33 0 0 0.500413 0 0 CRYBB1 1414 broad.mit.edu 37 22 27008146 27008146 + Silent SNP G G T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr22:27008146G>T ENST00000215939.2 - 3 319 c.189C>A c.(187-189)gtC>gtA p.V63V NM_001887.3 NP_001878.1 P53674 CRBB1_HUMAN crystallin, beta B1 63 Beta/gamma crystallin 'Greek key' 1. visual perception structural constituent of eye lens p.V63V(2) breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31 CCAGTTCGAAGACCACCAGCT 0.532000 23 93 7.87624e-14 8.41479e-14 0.639603 1 0 MOGAT1 116255 broad.mit.edu 37 2 223553091 223553091 + Missense_Mutation SNP G G T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr2:223553091G>T ENST00000446656.3 + 2 123 c.123G>T c.(121-123)atG>atT p.M41I NM_058165.2 NP_477513.2 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 41 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity p.M41I(1)|p.M40I(1) breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1) 9 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) TCACTGTGATGCTGATCATAC 0.473000 5 12 5.9392e-07 6.08525e-07 0.217242 1 0 APOB 338 broad.mit.edu 37 2 21250702 21250702 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr2:21250702C>T ENST00000233242.1 - 14 2192 c.2065G>A c.(2065-2067)Gag>Aag p.E689K APOB_ENST00000399256.4_Missense_Mutation_p.E689K NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 689 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.E689K(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ACACTTACCTCGATGAGGTCA 0.433000 18 54 0 0 0.575678 0 0 IGLV5-45 28781 broad.mit.edu 37 22 22730631 22730631 + RNA SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr22:22730631C>G ENST00000390296.2 + 0 154 TCACCTGCACCTTGCGCAGTG 0.537000 23 96 0 0 0.639603 0 0 INPP1 3628 broad.mit.edu 37 2 191227381 191227381 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr2:191227381G>A ENST00000392329.2 + 4 933 c.233G>A c.(232-234)gGa>gAa p.G78E INPP1_ENST00000541441.1_Missense_Mutation_p.G78E|INPP1_ENST00000417336.1_Intron|INPP1_ENST00000322522.4_Missense_Mutation_p.G78E NM_001128928.1 NP_001122400.1 P49441 INPP_HUMAN inositol polyphosphate-1-phosphatase 78 signal transduction inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding p.G78E(1) cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057) Lithium(DB01356) AATATTTTTGGAGAAGAATCC 0.303000 22 73 0 0 0.706142 0 0 EGFLAM 133584 broad.mit.edu 37 5 38407204 38407204 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr5:38407204G>A ENST00000322350.5 + 8 1449 c.1103G>A c.(1102-1104)cGa>cAa p.R368Q EGFLAM_ENST00000336740.6_Missense_Mutation_p.R134Q|EGFLAM_ENST00000354891.3_Missense_Mutation_p.R368Q|EGFLAM_ENST00000397202.2_Intron NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 368 EGF-like 1. cell junction|proteinaceous extracellular matrix|synapse p.R368Q(4) 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) GGGGGCTCGCGATGCCAGTGC 0.552000 22 52 0 0 0.608945 0 0 DCAF6 55827 broad.mit.edu 37 1 168034939 168034939 + Missense_Mutation SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr1:168034939G>C ENST00000367840.3 + 19 2645 c.2551G>C c.(2551-2553)Gat>Cat p.D851H DCAF6_ENST00000432587.2_Missense_Mutation_p.D820H|DCAF6_ENST00000367843.3_Missense_Mutation_p.D780H|DCAF6_ENST00000312263.6_Missense_Mutation_p.D760H NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 760 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity p.D780H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 TCTGGAAGCTGATAATCATGT 0.443000 48 36 0 0 0.870114 0 0 MLH1 4292 broad.mit.edu 37 3 37035075 37035075 + Missense_Mutation SNP G G A rs63750057 TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr3:37035075G>A ENST00000231790.2 + 1 253 c.37G>A c.(37-39)Gag>Aag p.E13K NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 13 mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.E13K(1) NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 GCGGCTGGACGAGACAGTGGT 0.567000 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 25 75 0 0 0.706142 0 0 RBM12 10137 broad.mit.edu 37 20 34242690 34242690 + Silent SNP G G T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr20:34242690G>T ENST00000374114.3 - 3 818 c.555C>A c.(553-555)gtC>gtA p.V185V RBM12_ENST00000359646.1_Silent_p.V185V|RBM12_ENST00000374104.3_Silent_p.V185V|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 185 Pro-rich. nucleus nucleotide binding|protein binding|RNA binding p.V185V(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) GTGGCGGCGGGACTGTGTTCA 0.547000 14 41 1.15088e-07 1.18403e-07 0.500413 1 0 RBM10 8241 broad.mit.edu 37 X 47041369 47041369 + Silent SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chrX:47041369C>G ENST00000377604.3 + 16 2455 c.1713C>G c.(1711-1713)acC>acG p.T571T RBM10_ENST00000329236.7_Silent_p.T493T|RBM10_ENST00000345781.6_Silent_p.T494T NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 571 Tyr-rich. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding p.T571T(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 ACGTCTCTACCTACCAGTACG 0.582000 30 21 0 0 0.717897 0 0 GPR98 84059 broad.mit.edu 37 5 90106172 90106172 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr5:90106172G>A ENST00000405460.2 + 74 15191 c.15095G>A c.(15094-15096)gGg>gAg p.G5032E GPR98_ENST00000425867.2_Missense_Mutation_p.G693E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5032 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.G5032E(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGACTATTTGGGTTCCACAGC 0.403000 8 18 0 0 0.278610 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47325196 47325196 + RNA SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr1:47325196C>G ENST00000505841.1 - 0 1204 NR_002788.2 TTCTCCCTCTCTGGGAAATAA 0.438000 5 6 0 0 0.184627 0 0 GRIA1 2890 broad.mit.edu 37 5 153181955 153181955 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr5:153181955G>A ENST00000285900.5 + 15 2768 c.2425G>A c.(2425-2427)Gtg>Atg p.V809M GRIA1_ENST00000340592.5_Missense_Mutation_p.V809M|GRIA1_ENST00000518142.1_Missense_Mutation_p.V729M|GRIA1_ENST00000521843.2_Missense_Mutation_p.V740M|GRIA1_ENST00000518783.1_Missense_Mutation_p.V819M|GRIA1_ENST00000448073.4_Missense_Mutation_p.V819M NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 809 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding p.V809M(2) NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGTGGCAGGCGTGTTCTACAT 0.517000 45 101 0 0 0.870114 0 0 ZNF335 63925 broad.mit.edu 37 20 44589147 44589147 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr20:44589147C>G ENST00000322927.2 - 13 1900 c.1800G>C c.(1798-1800)aaG>aaC p.K600N ZNF335_ENST00000426788.1_Missense_Mutation_p.K445N NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 600 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K600N(1) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) TGTAGCGCTTCTTAAAGGACT 0.622000 47 113 0 0 0.870114 0 0 CCDC135 84229 broad.mit.edu 37 16 57755605 57755605 + Missense_Mutation SNP C C A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr16:57755605C>A ENST00000360716.3 + 10 1454 c.1233C>A c.(1231-1233)ttC>ttA p.F411L CCDC135_ENST00000394337.4_Missense_Mutation_p.F411L|CCDC135_ENST00000336825.8_Missense_Mutation_p.F346L Q8IY82 CC135_HUMAN coiled-coil domain containing 135 411 cytoplasm p.F411L(1) breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 ATAAGAGCTTCGACATGCCCC 0.532000 22 63 6.38683e-12 6.73716e-12 0.729181 1 0 TRIP11 9321 broad.mit.edu 37 14 92506013 92506013 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr14:92506013C>T ENST00000267622.4 - 1 390 c.17G>A c.(16-18)gGg>gAg p.G6E TRIP11_ENST00000555105.1_5'UTR NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 6 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity p.G6E(1) breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) GCCGAGGCCCCCAAGCCAGGA 0.577000 T PDGFRB AML 6 15 0 0 0.278610 0 0 SMOC1 64093 broad.mit.edu 37 14 70459181 70459181 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr14:70459181G>A ENST00000381280.4 + 6 827 c.574G>A c.(574-576)Gat>Aat p.D192N SMOC1_ENST00000361956.3_Missense_Mutation_p.D192N NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 192 cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding p.D192N(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) GCCGGTGTTCGATGGAGATGG 0.413000 11 67 0 0 0.387290 0 0 MDN1 23195 broad.mit.edu 37 6 90468570 90468570 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr6:90468570G>A ENST00000369393.3 - 18 2685 c.2570C>T c.(2569-2571)tCt>tTt p.S857F MDN1_ENST00000428876.1_Missense_Mutation_p.S857F Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 857 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.S857F(1)|p.S857Y(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CAGGGATCCAGAAGATCCTTC 0.473000 13 40 0 0 0.435327 0 0 LOC494141 494141 broad.mit.edu 37 11 18231258 18231258 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr11:18231258C>T ENST00000527059.1 + 1 504 c.44C>T c.(43-45)tCa>tTa p.S15L RP11-113D6.10_ENST00000340135.3_Missense_Mutation_p.S15L|RP11-113D6.10_ENST00000534640.1_Missense_Mutation_p.S15L TTCAGAAGCTCATGGAAAGAG 0.358000 18 56 0 0 0.539581 0 0 ATN1 1822 broad.mit.edu 37 12 7045608 7045608 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr12:7045608C>G ENST00000356654.4 + 5 1415 c.1178C>G c.(1177-1179)tCt>tGt p.S393C ATN1_ENST00000396684.2_Missense_Mutation_p.S393C NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 393 Poly-Ser. cell death|central nervous system development cytoplasm|nucleus protein domain specific binding p.S393C(1) breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 tcttcctcctcttcctctgcc 0.587000 24 65 0 0 0.681144 0 0 AGFG2 3268 broad.mit.edu 37 7 100151098 100151098 + Nonsense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr7:100151098C>G ENST00000300176.4 + 4 682 c.560C>G c.(559-561)tCa>tGa p.S187* AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 187 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.S187*(2) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CCGTCTCTCTCAGTTGCTGCC 0.542000 32 102 0 0 0.788014 0 0 CDH3 1001 broad.mit.edu 37 16 68718667 68718667 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr16:68718667C>T ENST00000264012.4 + 10 1908 c.1364C>T c.(1363-1365)aCt>aTt p.T455I CDH3_ENST00000429102.2_Missense_Mutation_p.T455I|CDH3_ENST00000581171.1_Missense_Mutation_p.T400I NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 455 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2)|p.T455I(1) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) GGCATCCCCACTGGGGAGCCT 0.552000 61 214 0 0 0.870114 0 0 GALNT5 11227 broad.mit.edu 37 2 158165235 158165235 + Missense_Mutation SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr2:158165235G>C ENST00000259056.4 + 9 3162 c.2677G>C c.(2677-2679)Gaa>Caa p.E893Q NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 893 Ricin B-type lectin. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.E893Q(1) breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 CTTTCATCCAGAACTGGTAAG 0.408000 22 52 0 0 0.624587 0 0 POLR3C 10623 broad.mit.edu 37 1 145608196 145608196 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr1:145608196C>T ENST00000334163.3 - 4 661 c.501G>A c.(499-501)gaG>gaA p.E167E POLR3C_ENST00000369294.1_Silent_p.E167E|POLR3C_ENST00000471254.1_5'UTR NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 167 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity p.E167E(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) GGTCTGAATTCTCAGTGGTAG 0.478000 30 187 0 0 0.740014 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144903050 144903050 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr1:144903050G>A ENST00000529945.1 - 17 3770 c.3331C>T c.(3331-3333)Cat>Tat p.H1111Y PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313431.9_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.H735Y|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369354.3_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 963 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGCTTGTGATGAATTCGCACA 0.522000 T PDGFRB MPD 36 181 0 0 0.840704 0 0 KDR 3791 broad.mit.edu 37 4 55961105 55961105 + Silent SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr4:55961105G>A ENST00000263923.4 - 21 3130 c.2835C>T c.(2833-2835)ttC>ttT p.F945F NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 945 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.F945F(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TCCCTTGACGGAATCGTGCCC 0.433000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 20 48 0 0 0.592651 0 0 TMEM117 84216 broad.mit.edu 37 12 44781901 44781901 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr12:44781901G>A ENST00000266534.3 + 8 1118 c.991G>A c.(991-993)Ggg>Agg p.G331R TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.G227R NM_032256.1 NP_115632.1 Q9H0C3 TM117_HUMAN transmembrane protein 117 331 endoplasmic reticulum|integral to membrane p.G331R(3) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) TCATGAATATGGGCAATATAT 0.368000 19 29 0 0 0.557998 0 0 RIN2 54453 broad.mit.edu 37 20 19955572 19955572 + Silent SNP G G T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr20:19955572G>T ENST00000255006.6 + 8 1199 c.1050G>T c.(1048-1050)acG>acT p.T350T RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 301 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity p.T301T(1)|p.T350T(1) autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 CGAATGGCACGGAGCGGACTC 0.607000 9 31 9.70103e-10 1.01052e-09 0.361761 1 0 CREB3L3 84699 broad.mit.edu 37 19 4168351 4168351 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr19:4168351G>A ENST00000078445.2 + 6 865 c.718G>A c.(718-720)Gag>Aag p.E240K CREB3L3_ENST00000602257.1_Missense_Mutation_p.E238K|CREB3L3_ENST00000252587.3_Missense_Mutation_p.E180K|CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000595923.1_Missense_Mutation_p.E239K NM_001271995.1|NM_001271996.1|NM_032607.1 NP_001258924.1|NP_001258925.1|NP_115996.1 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 240 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E240K(1) breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) TTGGCAGTACGAGGAGCGAGT 0.542000 13 43 0 0 0.457914 0 0 HDAC6 10013 broad.mit.edu 37 X 48681849 48681849 + Missense_Mutation SNP G G T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chrX:48681849G>T ENST00000334136.5 + 25 3218 c.3040G>T c.(3040-3042)Ggg>Tgg p.G1014W HDAC6_ENST00000444343.2_Missense_Mutation_p.G1028W|HDAC6_ENST00000376619.2_Missense_Mutation_p.G1014W Q9UBN7 HDAC6_HUMAN histone deacetylase 6 1014 aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding p.G1014W(1) breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) GGAGGCTCCAGGGGGCACCGA 0.622000 12 8 0.105934 0.106359 0.435327 1 0 VPS13B 157680 broad.mit.edu 37 8 100403871 100403871 + Silent SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr8:100403871G>A ENST00000395996.1 + 21 3132 c.3021G>A c.(3019-3021)aaG>aaA p.K1007K VPS13B_ENST00000358544.2_Silent_p.K1007K|VPS13B_ENST00000357162.2_Silent_p.K1007K Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1007 protein transport p.K1007K(2) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CCTTGGCAAAGCAGCAATCAT 0.453000 18 103 0 0 0.557998 0 0 NUSAP1 51203 broad.mit.edu 37 15 41657737 41657737 + Silent SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr15:41657737G>C ENST00000260359.6 + 7 1017 c.753G>C c.(751-753)ctG>ctC p.L251L NUSAP1_ENST00000450592.2_Silent_p.L242L|NUSAP1_ENST00000560747.1_Silent_p.L264L|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000560177.1_Silent_p.L265L|NUSAP1_ENST00000450318.1_Silent_p.L266L|NUSAP1_ENST00000559596.1_Silent_p.L266L|NUSAP1_ENST00000414849.2_Silent_p.L265L NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7 NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4 Q9BXS6 NUSAP_HUMAN nucleolar and spindle associated protein 1 266 Interaction with microtubules (By similarity). cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis chromosome|cytoplasm|nucleolus DNA binding p.L266L(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2) 13 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168) CCTTGGGTCTGAAGGGGTCAC 0.502000 5 26 0 0 0.217242 0 0 MERTK 10461 broad.mit.edu 37 2 112766049 112766049 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr2:112766049C>G ENST00000295408.4 + 14 2214 c.1957C>G c.(1957-1959)Cta>Gta p.L653V MERTK_ENST00000421804.2_Missense_Mutation_p.L653V|MERTK_ENST00000409780.1_Missense_Mutation_p.L477V Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 653 Protein kinase. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity p.L653V(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 CATTCGACTTCTAGGTACTTC 0.488000 25 52 0 0 0.667858 0 0 SUCNR1 56670 broad.mit.edu 37 3 151599155 151599155 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr3:151599155C>T ENST00000362032.5 + 3 929 c.824C>T c.(823-825)tCc>tTc p.S275F RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_033050.4 NP_149039.2 Q9BXA5 SUCR1_HUMAN succinate receptor 1 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.S275F(1) endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) GTCATCAACTCCTTTTACATT 0.473000 154 131 0 0 0.870114 0 0 GSE1 23199 broad.mit.edu 37 16 85689517 85689517 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr16:85689517C>T ENST00000253458.7 + 6 1159 c.983C>T c.(982-984)gCg>gTg p.A328V GSE1_ENST00000393243.1_Missense_Mutation_p.A255V|GSE1_ENST00000405402.2_Missense_Mutation_p.A224V NM_014615.2 NP_055430.1 Gse1 coiled-coil protein p.A328V(1) GGCCTCAGCGCGGAGAGGTAA 0.657000 8 26 0 0 0.307466 0 0 BIRC5 332 broad.mit.edu 37 17 76219552 76219552 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr17:76219552G>A ENST00000301633.4 + 5 546 c.415G>A c.(415-417)Gaa>Aaa p.E139K AC087645.1_ENST00000600484.1_Missense_Mutation_p.S243F|BIRC5_ENST00000350051.3_Missense_Mutation_p.E116K|BIRC5_ENST00000374948.2_Silent_p.R76R|BIRC5_ENST00000589892.1_3'UTR NM_001012271.1 NP_001012271.1 O15392 BIRC5_HUMAN baculoviral IAP repeat containing 5 116 anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding p.E139K(1)|p.R76R(1)|p.E116K(1) kidney(1)|urinary_tract(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153) CCAGGCAAAGGAAACCAACAA 0.468000 25 43 0 0 0.667858 0 0 ANK2 287 broad.mit.edu 37 4 114158306 114158306 + Missense_Mutation SNP A A G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr4:114158306A>G ENST00000357077.4 + 6 700 c.647A>G c.(646-648)cAc>cGc p.H216R ANK2_ENST00000394537.3_Missense_Mutation_p.H216R|ANK2_ENST00000506722.1_Missense_Mutation_p.H195R|ANK2_ENST00000264366.6_Missense_Mutation_p.H216R NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 216 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.H216R(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) CAGAATGACCACAATGCTGAC 0.483000 64 155 0 0 0.870114 0 0 MICALL1 85377 broad.mit.edu 37 22 38328839 38328839 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr22:38328839C>T ENST00000215957.6 + 12 2304 c.2178C>T c.(2176-2178)ttC>ttT p.F726F MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 726 cytoplasm|cytoskeleton protein binding|zinc ion binding p.F726F(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) TGGACTGGTTCAAGCTCATCC 0.617000 11 59 0 0 0.411799 0 0 CILP 8483 broad.mit.edu 37 15 65491367 65491367 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr15:65491367C>G ENST00000261883.4 - 9 1423 c.1257G>C c.(1255-1257)caG>caC p.Q419H NM_003613.3 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 419 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix p.Q419H(1) breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 TGGTGGCATTCTGAAAGCAAT 0.507000 27 95 0 0 0.729181 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 58 0 0 0.115264 0 0 EGF 1950 broad.mit.edu 37 4 110890162 110890162 + Missense_Mutation SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr4:110890162G>C ENST00000265171.5 + 11 2056 c.1611G>C c.(1609-1611)gaG>gaC p.E537D EGF_ENST00000509793.1_Missense_Mutation_p.E495D|EGF_ENST00000503392.1_Missense_Mutation_p.E537D NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 537 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity p.E537D(1) breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) AGTGGATAGAGAGAGCTAATA 0.403000 28 70 0 0 0.779181 0 0 VIPR1 7433 broad.mit.edu 37 3 42576579 42576579 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr3:42576579G>A ENST00000433647.1 + 12 1624 c.1000G>A c.(1000-1002)Gtc>Atc p.V334I VIPR1_ENST00000438259.2_Missense_Mutation_p.V165I|VIPR1_ENST00000325123.4_Missense_Mutation_p.V375I|VIPR1_ENST00000543411.1_Missense_Mutation_p.V327I NM_001251882.1 NP_001238811.1 P32241 VIPR1_HUMAN vasoactive intestinal peptide receptor 1 375 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission integral to plasma membrane vasoactive intestinal polypeptide receptor activity p.V375I(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(284;0.241) CTTTGAGCTCGTCGTGGGGTC 0.498000 64 167 0 0 0.870114 0 0 CELSR3 1951 broad.mit.edu 37 3 48698816 48698816 + Missense_Mutation SNP T T A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr3:48698816T>A ENST00000544264.1 - 1 1532 c.1252A>T c.(1252-1254)Atg>Ttg p.M418L CELSR3_ENST00000164024.4_Missense_Mutation_p.M418L Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 418 Cadherin 1. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding p.M418L(2) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACGGCCACCATCGTGGTGGCC 0.662000 17 56 0 0 0.592651 0 0 HDAC9 9734 broad.mit.edu 37 7 18975511 18975511 + Silent SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr7:18975511C>G ENST00000406451.4 + 23 3024 c.2874C>G c.(2872-2874)ctC>ctG p.L958L HDAC9_ENST00000432645.2_Silent_p.L958L|HDAC9_ENST00000441542.2_Silent_p.L961L|HDAC9_ENST00000401921.1_Silent_p.L917L NM_178423.1 NP_848510.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity p.L961L(2) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GACATGATCTCACAGCCATCT 0.433000 68 143 0 0 0.870114 0 0 MUC16 94025 broad.mit.edu 37 19 9057196 9057196 + Silent SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr19:9057196G>A ENST00000397910.4 - 3 30453 c.30250C>T c.(30250-30252)Ctg>Ttg p.L10084L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10086 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.L10084L(1)|p.L5717L(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGGCAGCCAGTATTTCAACT 0.473000 10 41 0 0 0.411799 0 0 C4BPA 722 broad.mit.edu 37 1 207314560 207314560 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr1:207314560C>T ENST00000367070.3 + 10 1577 c.1383C>T c.(1381-1383)gtC>gtT p.V461V NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 461 Sushi 7. complement activation, classical pathway|innate immune response extracellular region protein binding p.V461V(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 ACATTCTGGTCGGACAGGCGA 0.413000 27 112 0 0 0.693898 0 0 ZKSCAN1 7586 broad.mit.edu 37 7 99621928 99621928 + Missense_Mutation SNP G G A rs148037051 TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr7:99621928G>A ENST00000324306.6 + 3 812 c.578G>A c.(577-579)cGa>cAa p.R193Q ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.R157Q|ZKSCAN1_ENST00000535170.1_Intron NM_003439.1 NP_003430.1 P17029 ZKSC1_HUMAN zinc finger with KRAB and SCAN domains 1 193 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R193Q(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) TTACAGTCACGAGGTAAGAAG 0.512000 14 37 0 0 0.500413 0 0 RGP1 9827 broad.mit.edu 37 9 35752709 35752709 + Silent SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr9:35752709C>G ENST00000378078.4 + 9 1155 c.1014C>G c.(1012-1014)ctC>ctG p.L338L RGP1_ENST00000456972.2_Silent_p.L378L NM_001080496.2 NP_001073965.2 Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog (S. cerevisiae) 338 p.L338L(1)|p.L378L(1) cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GATTGGTACTCCTACCCCCTG 0.498000 22 20 0 0 0.654019 0 0 VCAN 1462 broad.mit.edu 37 5 82817190 82817190 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr5:82817190G>A ENST00000265077.3 + 7 3630 c.3065G>A c.(3064-3066)aGa>aAa p.R1022K VCAN_ENST00000512590.2_Missense_Mutation_p.R974K|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.R1022K NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1022 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.R1022K(1) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GAAACTATGAGAACAACAAAA 0.433000 18 44 0 0 0.539581 0 0 CPEB1 64506 broad.mit.edu 37 15 83296112 83296112 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr15:83296112C>G ENST00000563800.1 - 2 1828 c.103G>C c.(103-105)Gaa>Caa p.E35Q CPEB1_ENST00000562019.1_Missense_Mutation_p.E8Q|CPEB1_ENST00000568757.1_5'UTR|CPEB1_ENST00000568128.1_Missense_Mutation_p.E8Q|CPEB1_ENST00000450751.2_5'UTR Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding protein 1 8 mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding p.E8Q(1) breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) CTTCCTGCTTCTTCTTCCTAG 0.398000 10 41 0 0 0.335167 0 0 SSPO 23145 broad.mit.edu 37 7 149512401 149512401 + RNA SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr7:149512401C>T ENST00000378016.2 + 0 10721 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGCCAGCTCTCCCAGGACGGG 0.721000 6 17 0 0 0.217242 0 0 LIPC 3990 broad.mit.edu 37 15 58861007 58861007 + Nonsense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr15:58861007C>G ENST00000356113.6 + 11 2096 c.1481C>G c.(1480-1482)tCa>tGa p.S494* LIPC_ENST00000299022.5_Nonsense_Mutation_p.S494*|LIPC_ENST00000433326.2_Nonsense_Mutation_p.S433* P11150 LIPC_HUMAN lipase, hepatic 494 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity p.S494*(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) TCTAAAACATCAAAGCGAAAG 0.348000 8 28 0 0 0.307466 0 0 CC2D2A 57545 broad.mit.edu 37 4 15569099 15569099 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr4:15569099C>T ENST00000424120.1 + 25 3536 c.3282C>T c.(3280-3282)ctC>ctT p.L1094L CC2D2A_ENST00000503292.1_Silent_p.L1094L|CC2D2A_ENST00000413206.1_Silent_p.L1094L|CC2D2A_ENST00000389652.5_Silent_p.L1045L Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 1094 C2. cell projection organization cilium|microtubule basal body p.L1094L(1)|p.L1045L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 ACTACCCCCTCGGCCAGGTGA 0.493000 14 50 0 0 0.457914 0 0 ENOX1 55068 broad.mit.edu 37 13 43935581 43935581 + Silent SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr13:43935581G>A ENST00000261488.6 - 6 793 c.216C>T c.(214-216)atC>atT p.I72I ENOX1_ENST00000412891.1_Silent_p.I72I NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 72 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity p.I72I(2) breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) CTGGGACACAGATTGAGTCTG 0.413000 20 52 0 0 0.592651 0 0 KCNS3 3790 broad.mit.edu 37 2 18112633 18112633 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr2:18112633C>T ENST00000403915.1 + 3 809 c.358C>T c.(358-360)Cgc>Tgc p.R120C KCNS3_ENST00000304101.4_Missense_Mutation_p.R120C|KCNS3_ENST00000465292.1_Intron NM_001282428.1 NP_001269357.1 Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 120 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity p.R120C(1) endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTGCAGCAATCGCTACCAGGA 0.507000 40 133 0 0 0.827153 0 0 TTC40 54777 broad.mit.edu 37 10 134671235 134671235 + Silent SNP C C T rs146998210 by1000genomes TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr10:134671235C>T ENST00000368586.5 - 39 5533 c.5433G>A c.(5431-5433)gcG>gcA p.A1811A TTC40_ENST00000263170.5_5'UTR NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 476 p.A1811A(1) breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CCAGGCCATACGCTTCCAAGT 0.473000 8 23 0 0 0.307466 0 0 MIA3 375056 broad.mit.edu 37 1 222826648 222826648 + Missense_Mutation SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr1:222826648G>C ENST00000344922.5 + 15 4313 c.4288G>C c.(4288-4290)Gat>Cat p.D1430H MIA3_ENST00000344441.6_Missense_Mutation_p.D1430H|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.D308H NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1430 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding p.D1430H(1) breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) AGGTGGAAATGATTCAGATGA 0.418000 16 56 0 0 0.520397 0 0 DENR 8562 broad.mit.edu 37 12 123253605 123253605 + Missense_Mutation SNP C C A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr12:123253605C>A ENST00000280557.6 + 8 763 c.577C>A c.(577-579)Ctt>Att p.L193I DENR_ENST00000455982.2_Intron NM_003677.3 NP_003668.2 O43583 DENR_HUMAN density-regulated protein 193 protein binding|translation initiation factor activity p.L193I(1) kidney(1)|large_intestine(1)|urinary_tract(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199) CATCGAAGATCTTGGAGAAGT 0.318000 45 133 7.34454e-26 8.05323e-26 0.870114 1 0 SEMA6B 10501 broad.mit.edu 37 19 4550273 4550273 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr19:4550273C>G ENST00000586582.1 - 12 1443 c.1133G>C c.(1132-1134)tGc>tCc p.C378S SEMA6B_ENST00000301293.3_Missense_Mutation_p.C378S|SEMA6B_ENST00000586965.1_Missense_Mutation_p.C378S NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 378 Sema. cell differentiation|nervous system development integral to membrane receptor activity p.C378S(1) breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GGGGGCTGCGCAGCACCCGGG 0.602000 27 76 0 0 0.729181 0 0 APOB 338 broad.mit.edu 37 2 21239390 21239390 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr2:21239390C>T ENST00000233242.1 - 21 3380 c.3253G>A c.(3253-3255)Gag>Aag p.E1085K NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 1085 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.E1085K(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTTTTGCCCTCAGTAGATTCA 0.453000 24 59 0 0 0.624587 0 0 INO80 54617 broad.mit.edu 37 15 41388034 41388034 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr15:41388034G>A ENST00000361937.3 - 3 660 c.236C>T c.(235-237)tCa>tTa p.S79L INO80_ENST00000401393.3_Missense_Mutation_p.S79L Q9ULG1 INO80_HUMAN INO80 complex subunit 79 Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity p.S79L(2) NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 ACCAAGCAATGAATTTGGAGG 0.433000 27 71 0 0 0.681144 0 0 TLE3 7090 broad.mit.edu 37 15 70346924 70346924 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr15:70346924G>A ENST00000558939.1 - 16 3065 c.1688C>T c.(1687-1689)tCg>tTg p.S563L TLE3_ENST00000558379.1_Missense_Mutation_p.S558L|TLE3_ENST00000559191.1_Missense_Mutation_p.S144L|TLE3_ENST00000451782.2_Missense_Mutation_p.S560L|TLE3_ENST00000560589.1_Missense_Mutation_p.S507L|TLE3_ENST00000560939.1_Missense_Mutation_p.S565L|TLE3_ENST00000559929.1_Missense_Mutation_p.S573L|TLE3_ENST00000557907.1_Missense_Mutation_p.S555L|TLE3_ENST00000559048.1_Missense_Mutation_p.S563L|TLE3_ENST00000539550.1_Missense_Mutation_p.S490L|TLE3_ENST00000317509.8_Missense_Mutation_p.S551L|TLE3_ENST00000558201.1_Missense_Mutation_p.S569L|TLE3_ENST00000442299.2_Missense_Mutation_p.S555L|TLE3_ENST00000557997.1_Missense_Mutation_p.S555L|TLE3_ENST00000440567.3_Missense_Mutation_p.S553L NM_001282979.1|NM_001282980.1|NM_001282981.1 NP_001269908.1|NP_001269909.1|NP_001269910.1 Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 563 organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding p.S563L(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GGGCGTGGGCGAGGCCAGGTC 0.652000 13 30 0 0 0.411799 0 0 DUPD1 338599 broad.mit.edu 37 10 76797697 76797697 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr10:76797697C>T ENST00000338487.5 - 3 559 c.560G>A c.(559-561)cGg>cAg p.R187Q NM_001003892.1 NP_001003892.1 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase domain containing 1 187 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R187Q(1) breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CAAAAAGCCCCGGTTCGGGAG 0.642000 32 87 0 0 0.750413 0 0 KCNH8 131096 broad.mit.edu 37 3 19492801 19492801 + Missense_Mutation SNP A A G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr3:19492801A>G ENST00000328405.2 + 10 1996 c.1730A>G c.(1729-1731)tAt>tGt p.Y577C KCNH8_ENST00000537696.1_3'UTR NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 577 integral to membrane two-component sensor activity p.Y577C(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 CCGGGGGAGTATCTGCTGCGT 0.512000 30 68 0 0 0.717897 0 0 CELF4 56853 broad.mit.edu 37 18 34839222 34839222 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr18:34839222C>G ENST00000420428.2 - 11 1650 c.1255G>C c.(1255-1257)Gag>Cag p.E419Q CELF4_ENST00000591287.1_Missense_Mutation_p.E417Q|CELF4_ENST00000412753.1_Missense_Mutation_p.E418Q|CELF4_ENST00000591282.1_Missense_Mutation_p.E419Q|CELF4_ENST00000603232.1_Missense_Mutation_p.E418Q|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000588597.1_Missense_Mutation_p.E407Q|CELF4_ENST00000601019.1_Missense_Mutation_p.E417Q|CELF4_ENST00000361795.5_Missense_Mutation_p.E417Q NM_020180.3 NP_064565.1 Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 419 RRM 3. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding p.E419Q(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 TTACAGCCCTCGGGCCCTGCG 0.612000 9 29 0 0 0.361761 0 0 SYNGR2 9144 broad.mit.edu 37 17 76167700 76167700 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr17:76167700C>T ENST00000225777.3 + 3 506 c.447C>T c.(445-447)atC>atT p.I149I SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000588282.1_Silent_p.I149I|SYNGR2_ENST00000585591.1_Silent_p.I149I|SYNGR2_ENST00000590201.1_Silent_p.I93I|SYNGR2_ENST00000589711.1_3'UTR O43760 SNG2_HUMAN synaptogyrin 2 149 MARVEL. integral to plasma membrane p.I149I(1) endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 7 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994) GGGCAGCCATCACCTTCAGCT 0.612000 23 51 0 0 0.729181 0 0 KMT2A 4297 broad.mit.edu 37 11 118376454 118376454 + Nonsense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr11:118376454C>T ENST00000534358.1 + 27 9870 c.9847C>T c.(9847-9849)Cga>Tga p.R3283* KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R3242*|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R3280* NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A p.R3283*(1)|p.R3280*(1) TTCATCTCACCGAACTGTCCC 0.433000 49 70 0 0 0.870114 0 0 DYRK4 8798 broad.mit.edu 37 12 4722727 4722727 + Silent SNP G G A rs143171709 TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr12:4722727G>A ENST00000540757.2 + 13 1531 c.1371G>A c.(1369-1371)acG>acA p.T457T DYRK4_ENST00000545342.1_Silent_p.T94T|DYRK4_ENST00000543431.1_Silent_p.T456T|RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000010132.5_Silent_p.T457T NM_001282285.1|NM_001282286.1|NM_003845.1 NP_001269214.1|NP_001269215.1|NP_003836.1 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 457 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T858T(1) central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) ATAGCCCCACGAAGCATGTTC 0.473000 20 66 0 0 0.557998 0 0 RNF216 54476 broad.mit.edu 37 7 5663714 5663714 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr7:5663714C>T ENST00000425013.2 - 16 2478 c.2254G>A c.(2254-2256)Gaa>Aaa p.E752K RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.E809K NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 752 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding p.E809K(1) FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TGTTCCTCTTCAGCCTCCTTC 0.547000 9 21 0 0 0.307466 0 0 FBXW7 55294 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C rs149680468 TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr4:153247289G>C ENST00000281708.4 - 10 2742 c.1513C>G c.(1513-1515)Cgc>Ggc p.R505G FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 505 R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 15 58 0 0 0.457914 0 0 TET3 200424 broad.mit.edu 37 2 74273845 74273845 + Missense_Mutation SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr2:74273845G>C ENST00000409262.3 + 1 396 c.396G>C c.(394-396)atG>atC p.M132I NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 132 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.M132I(1) NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GGCATGGTATGAAACCACCCA 0.632000 5 106 0 0 0.184627 0 0 EIF3A 8661 broad.mit.edu 37 10 120801973 120801973 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr10:120801973C>T ENST00000369144.3 - 19 3186 c.3059G>A c.(3058-3060)cGa>cAa p.R1020Q EIF3A_ENST00000541549.1_Missense_Mutation_p.R986Q NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 1020 25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity p.R1020Q(1) endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) ATCCAGTCCTCGTCTAGGTGG 0.587000 87 212 0 0 0.870114 0 0 KMT2C 58508 broad.mit.edu 37 7 151860062 151860062 + Nonsense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr7:151860062G>A ENST00000355193.2 - 43 10818 c.10600C>T c.(10600-10602)Cag>Tag p.Q3534* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q3534* lysine (K)-specific methyltransferase 2C p.Q3534*(2) CCATGTCCCTGCTTCACAGAA 0.488000 52 106 0 0 0.870114 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389009 1389009 + Missense_Mutation SNP G G T rs71299249 TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr4:1389009G>T ENST00000324803.4 + 1 3670 c.710G>T c.(709-711)gGa>gTa p.G237V NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 237 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding p.G237V(1) NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) TGCCGATGCGGAGTGCCCGCC 0.677000 24 156 5.04308e-16 5.41103e-16 0.819951 1 0 KDR 3791 broad.mit.edu 37 4 55961077 55961077 + Missense_Mutation SNP T T A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr4:55961077T>A ENST00000263923.4 - 21 3158 c.2863A>T c.(2863-2865)Atc>Ttc p.I955F NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 955 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.I955F(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TCCACAGGGATTGCTCCAACG 0.463000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 24 61 0 0 0.639603 0 0 LRRN1 57633 broad.mit.edu 37 3 3887565 3887565 + Missense_Mutation SNP T T A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr3:3887565T>A ENST00000319331.3 + 2 2001 c.1240T>A c.(1240-1242)Tta>Ata p.L414I SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 414 LRRCT. integral to membrane p.L414I(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) GAAGGAAGTTTTAATCCAGGA 0.488000 39 93 0 0 0.853193 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102526629 102526629 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr5:102526629C>T ENST00000321521.9 + 28 3949 c.3376C>T c.(3376-3378)Ctt>Ttt p.L1126F PPIP5K2_ENST00000358359.3_Missense_Mutation_p.L1147F|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L1126F|PPIP5K2_ENST00000513500.1_3'UTR O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 1147 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity p.L1126F(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GGATGAATTTCTTGCTTCCAT 0.373000 33 72 0 0 0.796494 0 0 C14orf159 80017 broad.mit.edu 37 14 91681828 91681828 + Silent SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr14:91681828G>A ENST00000518868.1 + 16 2334 c.1644G>A c.(1642-1644)ctG>ctA p.L548L C14orf159_ENST00000428926.2_Silent_p.L543L|C14orf159_ENST00000522322.1_Silent_p.L543L|C14orf159_ENST00000523771.1_Silent_p.L543L|C14orf159_ENST00000520328.1_Silent_p.L491L|C14orf159_ENST00000412671.2_Silent_p.L548L|C14orf159_ENST00000521077.2_Silent_p.L508L|C14orf159_ENST00000256324.10_Silent_p.L548L|C14orf159_ENST00000525393.2_Silent_p.L419L|C14orf159_ENST00000523816.1_Silent_p.L543L Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 543 mitochondrion p.L543L(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) GTCAGTACCTGAGGAAAGCAG 0.567000 44 126 0 0 0.870114 0 0 PHF19 26147 broad.mit.edu 37 9 123620306 123620306 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr9:123620306C>T ENST00000373896.3 - 15 1911 c.1659G>A c.(1657-1659)gaG>gaA p.E553E PHF19_ENST00000419155.1_Silent_p.E344E|PHF19_ENST00000487555.1_5'UTR NM_015651.1 NP_056466.1 Q5T6S3 PHF19_HUMAN PHD finger protein 19 553 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.E553E(1) NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCTGGTACTTCTCCCCACAGG 0.572000 53 36 0 0 0.870114 0 0 TINAGL1 64129 broad.mit.edu 37 1 32043028 32043028 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr1:32043028C>T ENST00000271064.7 + 2 355 c.279C>T c.(277-279)ctC>ctT p.L93L TINAGL1_ENST00000441210.2_Silent_p.L93L|TINAGL1_ENST00000457433.2_Silent_p.L93L|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000537531.1_Silent_p.L93L NM_001204415.1|NM_022164.2 NP_001191344.1|NP_071447.1 Q9GZM7 TINAL_HUMAN tubulointerstitial nephritis antigen-like 1 93 SMB. endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity p.L93L(1) breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) ACTTCTGCCTCGGCGTGCCAC 0.607000 60 162 0 0 0.870114 0 0 AMER1 139285 broad.mit.edu 37 X 63413139 63413139 + Nonsense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chrX:63413139G>A ENST00000330258.3 - 2 300 c.28C>T c.(28-30)Cag>Tag p.Q10* AMER1_ENST00000374869.3_Nonsense_Mutation_p.Q10*|AMER1_ENST00000403336.1_Nonsense_Mutation_p.Q10* NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67)|p.Q10*(4) CCCTTGGCCTGAGCAGCTTCA 0.527000 42 36 0 0 0.840704 0 0 FOXM1 2305 broad.mit.edu 37 12 2967845 2967845 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr12:2967845C>T ENST00000342628.2 - 10 2478 c.2365G>A c.(2365-2367)Gac>Aac p.D789N FOXM1_ENST00000361953.3_Missense_Mutation_p.D736N|FOXM1_ENST00000359843.3_Missense_Mutation_p.D751N|ITFG2_ENST00000545509.1_Intron NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 751 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding p.D789N(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) TTGATGTTGTCAGGGCCCAGT 0.577000 26 62 0 0 0.693898 0 0 TBXAS1 6916 broad.mit.edu 37 7 139655334 139655334 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr7:139655334G>A ENST00000263552.6 + 11 1157 c.619G>A c.(619-621)Gag>Aag p.E207K TBXAS1_ENST00000425687.1_Missense_Mutation_p.E139K|TBXAS1_ENST00000414508.2_Missense_Mutation_p.E207K|TBXAS1_ENST00000458722.1_Missense_Mutation_p.E252K|TBXAS1_ENST00000411653.1_Missense_Mutation_p.E206K|TBXAS1_ENST00000448866.1_Missense_Mutation_p.E206K|TBXAS1_ENST00000416849.2_Missense_Mutation_p.E253K|TBXAS1_ENST00000336425.5_Missense_Mutation_p.E206K|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000436047.2_Missense_Mutation_p.E207K NM_001130966.2 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 206 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity p.E207K(1)|p.E253K(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) GCAGGCCCCTGAGGATCCCTT 0.577000 50 124 0 0 0.870114 0 0 ATG7 10533 broad.mit.edu 37 3 11354786 11354786 + Missense_Mutation SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr3:11354786G>C ENST00000354449.3 + 6 445 c.420G>C c.(418-420)aaG>aaC p.K140N ATG7_ENST00000354956.5_Missense_Mutation_p.K140N|ATG7_ENST00000446450.2_Intron NM_006395.2 NP_006386.1 O95352 ATG7_HUMAN autophagy related 7 140 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity p.K140N(1) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 34 AGGATCTAAAGAAGTACCACT 0.373000 14 63 0 0 0.500413 0 0 EPHA1 2041 broad.mit.edu 37 7 143096426 143096426 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr7:143096426C>T ENST00000275815.3 - 5 1002 c.916G>A c.(916-918)Gag>Aag p.E306K NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 306 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity p.E306*(4)|p.E306K(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GTGGCCCCCTCAGACTCAGCA 0.657000 32 75 0 0 0.750413 0 0 ADA 100 broad.mit.edu 37 20 43255222 43255222 + Silent SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr20:43255222G>A ENST00000372874.4 - 4 371 c.237C>T c.(235-237)atC>atT p.I79I ADA_ENST00000537820.1_Silent_p.I79I NM_000022.2 NP_000013.2 P00813 ADA_HUMAN adenosine deaminase 79 adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome adenosine deaminase activity|protein binding|zinc ion binding p.I79I(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1) 18 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) CGATCCTTTTGATAGCCTCCC 0.567000 Adenosine Deaminase Deficiency 29 79 0 0 0.779181 0 0 USP13 8975 broad.mit.edu 37 3 179460036 179460036 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr3:179460036G>A ENST00000263966.3 + 12 1903 c.1432G>A c.(1432-1434)Gaa>Aaa p.E478K USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.E413K NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 478 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.E478K(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) TTTTTTGGTGGAAGAACGCAT 0.488000 17 117 0 0 0.575678 0 0 VWA3B 200403 broad.mit.edu 37 2 98737802 98737802 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr2:98737802C>T ENST00000477737.1 + 5 787 c.583C>T c.(583-585)Cct>Tct p.P195S VWA3B_ENST00000435344.1_Missense_Mutation_p.P195S|VWA3B_ENST00000451075.2_Missense_Mutation_p.P45S NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 195 p.P195S(1) NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AAATGCTACTCCTGTGACCGA 0.537000 15 44 0 0 0.539581 0 0 TRIM37 4591 broad.mit.edu 37 17 57148206 57148206 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr17:57148206G>A ENST00000376149.3 - 9 1230 c.421C>T c.(421-423)Cct>Tct p.P141S TRIM37_ENST00000262294.7_Missense_Mutation_p.P263S|TRIM37_ENST00000393065.2_Missense_Mutation_p.P229S|TRIM37_ENST00000393066.3_Missense_Mutation_p.P263S O94972 TRI37_HUMAN tripartite motif containing 37 263 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding p.P263S(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) GGTGGAACAGGAGTGGTAACA 0.363000 Mulibrey Nanism 25 94 0 0 0.654019 0 0 CLN5 1203 broad.mit.edu 37 13 77574603 77574603 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr13:77574603C>G ENST00000377453.3 + 4 2015 c.723C>G c.(721-723)ttC>ttG p.F241L NM_006493.2 NP_006484.1 O75503 CLN5_HUMAN ceroid-lipofuscinosis, neuronal 5 192 brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding p.F241L(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0503) GAAACATGTTCAACCAAATGG 0.353000 16 44 0 0 0.575678 0 0 ATR 545 broad.mit.edu 37 3 142231262 142231262 + Silent SNP T T G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr3:142231262T>G ENST00000350721.4 - 27 4813 c.4692A>C c.(4690-4692)atA>atC p.I1564I ATR_ENST00000383101.3_Silent_p.I1500I NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1564 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity p.I1564I(1) NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CTTGGGTATTTATGGTATGCT 0.358000 Other conserved DNA damage response genes 49 166 0 0 0.870114 0 0 HRNR 388697 broad.mit.edu 37 1 152193724 152193724 + Missense_Mutation SNP A A T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr1:152193724A>T ENST00000368801.2 - 3 456 c.381T>A c.(379-381)ttT>ttA p.F127L FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 127 keratinization calcium ion binding|protein binding p.F127L(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGAATGACTAAAAGAGGATT 0.438000 55 297 0 0 0.870114 0 0 SMOC2 64094 broad.mit.edu 37 6 169064768 169064768 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr6:169064768G>A ENST00000354536.5 + 12 1553 c.1333G>A c.(1333-1335)Gct>Act p.A445T SMOC2_ENST00000356284.2_Missense_Mutation_p.A434T|SMOC2_ENST00000477998.1_3'UTR NM_022138.2 NP_071421.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 434 signal transduction basement membrane calcium ion binding p.A445T(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) CAGAGGTCATGCTGAAAGTAC 0.299000 16 43 0 0 0.520397 0 0 GRID2 2895 broad.mit.edu 37 4 94693231 94693231 + Missense_Mutation SNP A A G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr4:94693231A>G ENST00000282020.4 + 16 2864 c.2606A>G c.(2605-2607)gAc>gGc p.D869G GRID2_ENST00000510992.1_Missense_Mutation_p.D774G NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 869 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.D869G(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CTCCAGGATGACAAGGAAATT 0.383000 18 67 0 0 0.575678 0 0 CDCA7L 55536 broad.mit.edu 37 7 21945945 21945945 + Nonsense_Mutation SNP C C A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr7:21945945C>A ENST00000406877.3 - 6 1162 c.883G>T c.(883-885)Gaa>Taa p.E295* CDCA7L_ENST00000373934.4_Nonsense_Mutation_p.E249*|CDCA7L_ENST00000356195.5_Nonsense_Mutation_p.E261*|CDCA7L_ENST00000465490.1_5'UTR NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 295 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus p.E295*(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 TAAAACTCTTCCGCAAATTTA 0.483000 54 145 1.14385e-22 1.24332e-22 0.870114 1 0 ARIH2OS 646450 broad.mit.edu 37 3 48956327 48956327 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr3:48956327C>T ENST00000408959.2 - 1 491 c.256G>A c.(256-258)Gac>Aac p.D86N ARIH2_ENST00000356401.4_5'UTR|ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_5'UTR NM_001123040.1 NP_001116512.1 ariadne homolog 2 opposite strand p.D86N(1) TGACCGGCGTCGGCCCGCCGC 0.721000 5 9 0 0 0.248553 0 0 EIF5A 1984 broad.mit.edu 37 17 7214697 7214697 + Nonsense_Mutation SNP C C A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr17:7214697C>A ENST00000336458.8 + 4 700 c.299C>A c.(298-300)tCa>tAa p.S100* GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000419711.2_Nonsense_Mutation_p.S100*|EIF5A_ENST00000573542.1_Nonsense_Mutation_p.S100*|EIF5A_ENST00000576930.1_Nonsense_Mutation_p.S100*|EIF5A_ENST00000416016.2_Nonsense_Mutation_p.S100*|EIF5A_ENST00000572815.1_Nonsense_Mutation_p.S100*|EIF5A_ENST00000336452.7_Nonsense_Mutation_p.S130*|EIF5A_ENST00000571955.1_Nonsense_Mutation_p.S100* NM_001970.4 NP_001961.1 P63241 IF5A1_HUMAN eukaryotic translation initiation factor 5A 100 induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding p.S130*(1)|p.S100*(1) endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1) 6 GGGTACCTATCACTGCTCCAG 0.562000 26 136 1.66031e-10 1.73672e-10 0.667858 1 0 AFTPH 54812 broad.mit.edu 37 2 64779737 64779737 + Missense_Mutation SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr2:64779737G>C ENST00000422803.1 + 2 1443 c.1129G>C c.(1129-1131)Gat>Cat p.D377H AFTPH_ENST00000409933.1_Missense_Mutation_p.D377H|AFTPH_ENST00000238855.7_Missense_Mutation_p.D377H|AFTPH_ENST00000238856.4_Missense_Mutation_p.D377H|AFTPH_ENST00000409183.1_Missense_Mutation_p.D8H Q6ULP2 AFTIN_HUMAN aftiphilin 377 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding p.D377H(2) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TAAAACTTCTGATGATGAAGT 0.348000 30 78 0 0 0.729181 0 0 CREB3L3 84699 broad.mit.edu 37 19 4168358 4168358 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr19:4168358G>A ENST00000078445.2 + 6 872 c.725G>A c.(724-726)cGa>cAa p.R242Q CREB3L3_ENST00000602257.1_Missense_Mutation_p.R240Q|CREB3L3_ENST00000252587.3_Missense_Mutation_p.R182Q|CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000595923.1_Missense_Mutation_p.R241Q NM_001271995.1|NM_001271996.1|NM_032607.1 NP_001258924.1|NP_001258925.1|NP_115996.1 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 242 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R242Q(1) breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) TACGAGGAGCGAGTGCTGAAA 0.547000 12 46 0 0 0.435327 0 0 LILRA6 79168 broad.mit.edu 37 19 54745730 54745730 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr19:54745730G>A ENST00000440558.2 - 4 428 c.380C>T c.(379-381)tCa>tTa p.S127L LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.S127L|LILRA6_ENST00000396365.2_Missense_Mutation_p.S127L|LILRA6_ENST00000245621.5_Missense_Mutation_p.S127L|LILRA6_ENST00000391735.3_Missense_Mutation_p.S127L|LILRA6_ENST00000270464.5_Missense_Mutation_p.S127L leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 p.S127L(2) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGCAGGGCTGAGAGGGTGGG 0.562000 38 91 0 0 0.870114 0 0 ZMYM3 9203 broad.mit.edu 37 X 70470410 70470410 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chrX:70470410C>T ENST00000373998.1 - 5 1642 c.945G>A c.(943-945)cgG>cgA p.R315R ZMYM3_ENST00000314425.5_Silent_p.R315R|ZMYM3_ENST00000353904.2_Silent_p.R315R|ZMYM3_ENST00000373982.1_Silent_p.R317R|ZMYM3_ENST00000373984.3_Silent_p.R317R|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000373981.1_Silent_p.R315R|ZMYM3_ENST00000373988.1_Silent_p.R317R NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 315 multicellular organismal development nucleus DNA binding|zinc ion binding p.R315R(1) breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) GCAGTGGTGTCCGGCAATGTG 0.622000 14 8 0 0 0.500413 0 0 TTLL2 83887 broad.mit.edu 37 6 167755005 167755005 + Silent SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr6:167755005G>A ENST00000239587.5 + 3 1705 c.1617G>A c.(1615-1617)ccG>ccA p.P539P NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 539 protein modification process ATP binding|tubulin-tyrosine ligase activity p.P539P(1) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) AGACCTCCCCGTGTGTCCTGT 0.542000 40 77 0 0 0.819951 0 0 ZNF207 7756 broad.mit.edu 37 17 30685544 30685544 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr17:30685544C>G ENST00000394670.4 + 3 360 c.191C>G c.(190-192)gCc>gGc p.A64G ZNF207_ENST00000341711.6_Intron|ZNF207_ENST00000321233.6_Missense_Mutation_p.A64G|ZNF207_ENST00000394673.2_Missense_Mutation_p.A64G|ZNF207_ENST00000342555.6_Missense_Mutation_p.A67G|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000577908.1_Missense_Mutation_p.A64G NM_001098507.1 NP_001091977.1 O43670 ZN207_HUMAN zinc finger protein 207 64 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A64G(1) breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) ACAATAGATGCCGTACCAAAT 0.323000 24 90 0 0 0.681144 0 0 HEPHL1 341208 broad.mit.edu 37 11 93778916 93778916 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr11:93778916C>T ENST00000315765.9 + 2 256 c.248C>T c.(247-249)aCg>aTg p.T83M NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 83 Plastocyanin-like 1. copper ion transport integral to membrane copper ion binding|oxidoreductase activity p.T83M(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) AGACGCTTCACGGATGGAACC 0.453000 11 34 0 0 0.361761 0 0 HNF4G 3174 broad.mit.edu 37 8 76465276 76465276 + Splice_Site SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr8:76465276G>A ENST00000396423.2 + 5 583 c.e5-1 HNF4G_ENST00000354370.1_Splice_Site NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.?(2) breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) CTTAATACTAGATCTCAGTCT 0.348000 18 67 0 0 0.575678 0 0 FOCAD 54914 broad.mit.edu 37 9 20720513 20720513 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr9:20720513C>T ENST00000380249.1 + 6 631 c.267C>T c.(265-267)ctC>ctT p.L89L FOCAD_ENST00000338382.6_Silent_p.L89L NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 89 integral to membrane binding p.L89L(1) ATGGGATACTCAACTTGATTC 0.408000 92 101 0 0 0.870114 0 0 CUL1 8454 broad.mit.edu 37 7 148484186 148484186 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr7:148484186G>A ENST00000325222.4 + 13 1732 c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K CUL1_ENST00000602748.1_Missense_Mutation_p.E485K|CUL1_ENST00000409469.1_Missense_Mutation_p.E485K NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 485 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|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|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding p.E485K(4) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) TGACGATGCCGAAGCCAGCAT 0.458000 21 54 0 0 0.624587 0 0 API5 8539 broad.mit.edu 37 11 43356859 43356859 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr11:43356859G>A ENST00000378852.3 + 12 1435 c.1310G>A c.(1309-1311)aGc>aAc p.S437N API5_ENST00000534600.1_Missense_Mutation_p.S437N|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000455725.2_Missense_Mutation_p.S426N|API5_ENST00000420461.2_Missense_Mutation_p.S383N|API5_ENST00000529334.1_3'UTR|API5_ENST00000531273.1_Missense_Mutation_p.S437N|API5_ENST00000534695.1_Intron NM_001142930.1|NM_006595.3 NP_001136402.1|NP_006586.1 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 437 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding p.S437N(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 TCTTATAAGAGCACAGTAACA 0.383000 38 74 0 0 0.847076 0 0 MYH1 4619 broad.mit.edu 37 17 10419637 10419637 + Missense_Mutation SNP T T G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr17:10419637T>G ENST00000226207.5 - 4 321 c.227A>C c.(226-228)cAa>cCa p.Q76P RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 76 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.Q76P(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GGGGAAGACTTGGTCATCTTT 0.463000 56 232 0 0 0.870114 0 0 VCAM1 7412 broad.mit.edu 37 1 101194673 101194673 + Silent SNP T T C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr1:101194673T>C ENST00000294728.2 + 5 1040 c.939T>C c.(937-939)ttT>ttC p.F313F VCAM1_ENST00000370119.4_Silent_p.F251F|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 313 Ig-like C2-type 4. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding p.F313F(1) central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) AGAAACCATTTACTGTTGAGA 0.413000 13 31 0 0 0.457914 0 0 ZNF189 7743 broad.mit.edu 37 9 104170392 104170392 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr9:104170392C>G ENST00000374861.3 + 3 584 c.300C>G c.(298-300)ttC>ttG p.F100L ZNF189_ENST00000339664.2_Missense_Mutation_p.F114L|ZNF189_ENST00000259395.4_Missense_Mutation_p.F72L NM_001278231.1|NM_001278232.1|NM_003452.2 NP_001265160.1|NP_001265161.1|NP_003443.2 O75820 ZN189_HUMAN zinc finger protein 189 114 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F114L(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) GAGGGATCTTCCTATGGGAAA 0.378000 22 16 0 0 0.592651 0 0 SRRM2 23524 broad.mit.edu 37 16 2813979 2813979 + Silent SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr16:2813979G>A ENST00000301740.8 + 11 3999 c.3450G>A c.(3448-3450)tcG>tcA p.S1150S NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1150 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding p.S1150S(2) breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CAGTGGACTCGAATTCTCTCT 0.478000 35 129 0 0 0.788014 0 0 RNF216 54476 broad.mit.edu 37 7 5663694 5663694 + Missense_Mutation SNP C C A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr7:5663694C>A ENST00000425013.2 - 16 2498 c.2274G>T c.(2272-2274)aaG>aaT p.K758N RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.K815N NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 758 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding p.K815N(1) FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TGCCTCCATTCTTTCTTTTCT 0.537000 10 21 7.48243e-07 7.63513e-07 0.335167 1 0 RBM10 8241 broad.mit.edu 37 X 47045533 47045533 + Nonsense_Mutation SNP A A T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chrX:47045533A>T ENST00000377604.3 + 22 3242 c.2500A>T c.(2500-2502)Aag>Tag p.K834* RBM10_ENST00000329236.7_Nonsense_Mutation_p.K756*|RBM10_ENST00000345781.6_Nonsense_Mutation_p.K757* NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 834 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding p.K834*(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 GCCAGAGCCCAAGAGGAGGAA 0.607000 22 18 0 0 0.681144 0 0 CLCNKB 1188 broad.mit.edu 37 1 16375484 16375484 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr1:16375484C>T ENST00000375667.3 + 1 201 c.18C>T c.(16-18)ctC>ctT p.L6L CLCNKB_ENST00000375679.4_Intron NM_001165945.2 NP_001159417.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) GCCCTCCCCTCCTGTCTGTCC 0.697000 7 21 0 0 0.248553 0 0 FLT1 2321 broad.mit.edu 37 13 28897021 28897021 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr13:28897021C>T ENST00000282397.4 - 21 3110 c.2859G>A c.(2857-2859)aaG>aaA p.K953K FLT1_ENST00000540678.1_Silent_p.K171K NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 953 Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity p.K953K(1) NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GTCTTGGTTTCTTGCCTTGTT 0.493000 66 151 0 0 0.870114 0 0 UGT1A3 54659 broad.mit.edu 37 2 234638460 234638460 + Missense_Mutation SNP C C A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr2:234638460C>A ENST00000482026.1 + 1 707 c.688C>A c.(688-690)Cct>Act p.P230T UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.P230T|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000373445.1_Intron p.P230T(1) breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) TTTTTCTGCTCCTTATGCAAG 0.468000 86 263 2.05912e-35 2.27779e-35 0.870114 1 0 NID1 4811 broad.mit.edu 37 1 236208952 236208952 + Missense_Mutation SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr1:236208952G>C ENST00000264187.6 - 3 639 c.557C>G c.(556-558)tCt>tGt p.S186C NID1_ENST00000366595.3_Missense_Mutation_p.S186C NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 186 NIDO. cell-matrix adhesion basement membrane calcium ion binding p.S186C(1) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GCTGGAATCAGAGGAGGCTAG 0.413000 17 65 0 0 0.500413 0 0 RFESD 317671 broad.mit.edu 37 5 94989768 94989768 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr5:94989768G>A ENST00000458310.1 + 4 1493 c.162G>A c.(160-162)atG>atA p.M54I SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000513950.2_Start_Codon_SNP_p.M1I|RFESD_ENST00000380005.4_Missense_Mutation_p.M54I|RFESD_ENST00000311364.4_Start_Codon_SNP_p.M1I NM_001131065.1 NP_001124537.1 Q8TAC1 RFESD_HUMAN Rieske (Fe-S) domain containing 1 Rieske 1.|Rieske 2. 2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity p.M1I(1)|p.M54I(1) autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 6 all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162) all cancers(79;5.94e-17) CAACTAGCATGAATCTTGATG 0.373000 14 47 0 0 0.479597 0 0 DHX36 170506 broad.mit.edu 37 3 154018909 154018909 + Missense_Mutation SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr3:154018909G>C ENST00000496811.1 - 10 1305 c.1225C>G c.(1225-1227)Cca>Gca p.P409A DHX36_ENST00000308361.6_Missense_Mutation_p.P409A|DHX36_ENST00000544526.1_Missense_Mutation_p.P409A|DHX36_ENST00000329463.5_Missense_Mutation_p.P409A NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 409 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.P409A(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TTTTGTTCTGGAACATACCTA 0.294000 37 134 0 0 0.788014 0 0 CTTN 2017 broad.mit.edu 37 11 70281229 70281229 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr11:70281229C>T ENST00000301843.8 + 18 1820 c.1614C>T c.(1612-1614)taC>taT p.Y538Y CTTN_ENST00000376561.3_Intron|CTTN_ENST00000538675.1_Intron|CTTN_ENST00000346329.3_Silent_p.Y501Y NM_005231.3 NP_005222.2 Q14247 SRC8_HUMAN cortactin 538 SH3. cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding p.Y538Y(1)|p.?(1) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) AGGGCCGGTACGGGCTCTTCC 0.617000 32 58 0 0 0.750413 0 0 NIN 51199 broad.mit.edu 37 14 51226630 51226630 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr14:51226630C>T ENST00000245441.5 - 17 2534 c.2344G>A c.(2344-2346)Gag>Aag p.E782K NIN_ENST00000530997.2_Missense_Mutation_p.E782K|NIN_ENST00000382043.4_Missense_Mutation_p.E782K|NIN_ENST00000453196.1_Missense_Mutation_p.E782K|NIN_ENST00000382041.3_Missense_Mutation_p.E782K|NIN_ENST00000324330.9_Missense_Mutation_p.E782K|NIN_ENST00000389868.3_Missense_Mutation_p.E782K NM_020921.3 NP_065972 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 782 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding p.E782K(2)|p.E788K(1) breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) CTTAACTCCTCTTTCTCAAGA 0.507000 T PDGFRB MPD 111 223 0 0 0.870114 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733572 56733572 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr19:56733572C>T ENST00000587340.1 - 7 1558 c.863G>A c.(862-864)aGa>aAa p.R288K ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.R142K|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.R288K|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.R287K|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.R171K Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 288 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R288K(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 AGCGTCTCCTCTGTTCCCGCT 0.537000 67 138 0 0 0.870114 0 0 ZBTB21 49854 broad.mit.edu 37 21 43413917 43413917 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr21:43413917C>T ENST00000310826.5 - 3 471 c.288G>A c.(286-288)aaG>aaA p.K96K ZBTB21_ENST00000398511.3_Silent_p.K96K|ZBTB21_ENST00000398499.1_Silent_p.K96K|ZBTB21_ENST00000398505.3_Silent_p.K96K|ZBTB21_ENST00000465968.1_Intron NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 p.K96K(1) CAAGGCTGCTCTTCTCAACAA 0.398000 16 38 0 0 0.500413 0 0 LILRB5 10990 broad.mit.edu 37 19 54754820 54754820 + Missense_Mutation SNP T T G rs429425 by1000genomes TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr19:54754820T>G ENST00000450632.1 - 13 1892 c.1815A>C c.(1813-1815)ttA>ttC p.L605F LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 440 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GAGTGAGAGGTAAGGAACGTG 0.607000 6 74 0 0 0.278610 0 0 SH2D3A 10045 broad.mit.edu 37 19 6760801 6760801 + Silent SNP C C T rs143102735 TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr19:6760801C>T ENST00000245908.6 - 3 536 c.267G>A c.(265-267)ccG>ccA p.P89P SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron NM_005490.2 NP_005481.2 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 89 SH2. JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity p.P89P(1) breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 GAACCAGAGCCGGTATGCTGG 0.632000 32 78 0 0 0.827153 0 0 SYNE1 23345 broad.mit.edu 37 6 152650896 152650896 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr6:152650896C>G ENST00000367255.5 - 78 15525 c.14924G>C c.(14923-14925)gGa>gCa p.G4975A SYNE1_ENST00000341594.5_Missense_Mutation_p.G4722A|SYNE1_ENST00000265368.4_Missense_Mutation_p.G4975A|SYNE1_ENST00000423061.1_Missense_Mutation_p.G4904A|SYNE1_ENST00000448038.1_Missense_Mutation_p.G4904A NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4975 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.G4975A(2)|p.G4904A(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGGATGTCTCCATCCAGCTC 0.463000 HNSCC(10;0.0054) 48 134 0 0 0.864702 0 0 SPOCD1 90853 broad.mit.edu 37 1 32264127 32264127 + Silent SNP G G T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr1:32264127G>T ENST00000360482.2 - 8 2073 c.1944C>A c.(1942-1944)ctC>ctA p.L648L SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Silent_p.L648L|SPOCD1_ENST00000257100.3_Silent_p.L141L NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 648 TFIIS central. transcription, DNA-dependent p.L648L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TCAGGTCCCAGAGGGCTGCCT 0.642000 14 58 6.53275e-17 7.07008e-17 0.457914 1 0 MAGEE1 57692 broad.mit.edu 37 X 75650837 75650837 + Missense_Mutation SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chrX:75650837G>C ENST00000361470.2 + 1 2792 c.2514G>C c.(2512-2514)ttG>ttC p.L838F NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 838 Interaction with DTNA (By similarity).|MAGE 2. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane p.L838F(2) breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 ACAACTTTTTGATGCAGGTCC 0.502000 11 14 0 0 0.387290 0 0 SLC16A14 151473 broad.mit.edu 37 2 230902218 230902218 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr2:230902218C>T ENST00000295190.4 - 5 1869 c.1411G>A c.(1411-1413)Gat>Aat p.D471N NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 471 integral to membrane|plasma membrane symporter activity p.D471N(1) NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) AAGGAAAAATCATATTTTTGC 0.333000 32 42 0 0 0.760397 0 0 MED15 51586 broad.mit.edu 37 22 20939289 20939289 + Missense_Mutation SNP G G A rs147995933 TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr22:20939289G>A ENST00000263205.7 + 15 2020 c.1951G>A c.(1951-1953)Ggc>Agc p.G651S MED15_ENST00000425759.2_Missense_Mutation_p.G500S|MED15_ENST00000292733.7_Missense_Mutation_p.G611S|MED15_ENST00000541476.1_Missense_Mutation_p.G585S|MED15_ENST00000382974.2_Missense_Mutation_p.G540S|MED15_ENST00000406969.1_Missense_Mutation_p.G585S|MED15_ENST00000542773.1_3'UTR NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 651 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.G611S(1)|p.G651S(1) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) CGCCATTCACGGCCCACCCAT 0.657000 20 106 0 0 0.847076 0 0 TLR10 81793 broad.mit.edu 37 4 38777082 38777082 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr4:38777082C>T ENST00000308973.4 - 4 735 c.130G>A c.(130-132)Gca>Aca p.A44T TLR10_ENST00000508334.1_Missense_Mutation_p.A44T|TLR10_ENST00000361424.2_Missense_Mutation_p.A44T|TLR10_ENST00000506111.1_Missense_Mutation_p.A44T NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 44 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity p.A44T(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 GTCAAGTCTGCGGGAACCTTT 0.448000 19 42 0 0 0.575678 0 0 PLD4 122618 broad.mit.edu 37 14 105397201 105397201 + Silent SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr14:105397201G>A ENST00000540372.1 + 7 1053 c.861G>A c.(859-861)caG>caA p.Q287Q PLD4_ENST00000392593.4_Silent_p.Q280Q Q96BZ4 PLD4_HUMAN phospholipase D family, member 4 280 lipid catabolic process integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity p.Q263Q(1)|p.Q280Q(1) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116) Choline(DB00122) CCTGGCCTCAGAACTTCTCAT 0.567000 68 156 0 0 0.870114 0 0 BUB1B 701 broad.mit.edu 37 15 40500941 40500941 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr15:40500941G>A ENST00000287598.6 + 16 2308 c.2113G>A c.(2113-2115)Gag>Aag p.E705K BUB1B_ENST00000412359.3_Missense_Mutation_p.E719K NM_001211.5 NP_001202 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 705 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity p.E705K(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TCAAATTCCTGAGAAACTAGA 0.423000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 15 57 0 0 0.457914 0 0 STRA8 346673 broad.mit.edu 37 7 134927560 134927560 + Missense_Mutation SNP C C A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr7:134927560C>A ENST00000275764.3 + 3 286 c.286C>A c.(286-288)Cat>Aat p.H96N NM_182489.1 NP_872295.1 Q7Z7C7 STRA8_HUMAN stimulated by retinoic acid 8 96 DNA replication|regulation of transcription, DNA-dependent cytoplasm|nucleus p.H96N(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1) 16 GGCAAAGAGTCATATTCCAGA 0.483000 20 71 2.94398e-08 3.05392e-08 0.557998 1 0 TSNARE1 203062 broad.mit.edu 37 8 143436064 143436064 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr8:143436064G>A ENST00000519651.1 - 2 125 c.22C>T c.(22-24)Cgt>Tgt p.R8C TSNARE1_ENST00000524325.1_Missense_Mutation_p.R8C|TSNARE1_ENST00000520166.1_Missense_Mutation_p.R8C|TSNARE1_ENST00000307180.3_Missense_Mutation_p.R8C Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 8 vesicle-mediated transport integral to membrane p.R8C(1) breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CCACCTCCACGGGCGATGGAT 0.612000 25 135 0 0 0.667858 0 0 CELSR2 1952 broad.mit.edu 37 1 109806818 109806818 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr1:109806818G>A ENST00000271332.3 + 10 5181 c.5120G>A c.(5119-5121)gGa>gAa p.G1707E NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1707 Laminin G-like 2. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding p.G1707E(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CTGGCACTGGGAGCCAGCGGG 0.667000 OREG0013632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 94 0 0 0.769981 0 0 C6orf165 154313 broad.mit.edu 37 6 88136336 88136336 + Missense_Mutation SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr6:88136336G>C ENST00000507897.1 + 8 1016 c.933G>C c.(931-933)aaG>aaC p.K311N C6ORF165_ENST00000369562.4_Missense_Mutation_p.K311N Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 311 p.K311N(2) NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TAAAATCAAAGATAGCGGTCC 0.363000 15 37 0 0 0.500413 0 0 GPR68 8111 broad.mit.edu 37 14 91700960 91700960 + Silent SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr14:91700960G>A ENST00000535815.1 - 2 775 c.435C>T c.(433-435)atC>atT p.I145I GPR68_ENST00000531499.2_Silent_p.I145I|GPR68_ENST00000238699.3_Silent_p.I155I NM_001177676.1 NP_001171147.1 Q15743 OGR1_HUMAN G protein-coupled receptor 68 145 inflammatory response integral to plasma membrane G-protein coupled receptor activity p.I155I(1) central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 8 all_cancers(154;0.0555) COAD - Colon adenocarcinoma(157;0.21) CCTTGGCCCAGATGACCACGC 0.627000 12 29 0 0 0.387290 0 0 THEMIS2 9473 broad.mit.edu 37 1 28212380 28212380 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr1:28212380G>A ENST00000373921.3 + 6 1883 c.1879G>A c.(1879-1881)Gat>Aat p.D627N THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000492877.1_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.D498N|THEMIS2_ENST00000373925.1_3'UTR NM_001105556.1 NP_001099026.1 thymocyte selection associated family member 2 p.D627N(1) TTTTGCAGATGATGATGAACA 0.463000 21 62 0 0 0.624587 0 0 SLC44A4 80736 broad.mit.edu 37 6 31838641 31838641 + Silent SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr6:31838641G>A ENST00000544672.1 - 10 953 c.657C>T c.(655-657)ttC>ttT p.F219F SLC44A4_ENST00000375562.4_Silent_p.F253F|SLC44A4_ENST00000229729.6_Silent_p.F295F NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 295 integral to membrane|plasma membrane choline transmembrane transporter activity p.F295F(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) GGTTGGTGGTGAAACCCAGCT 0.662000 39 95 0 0 0.847076 0 0 KMT2D 8085 broad.mit.edu 37 12 49424159 49424159 + Nonsense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr12:49424159G>A ENST00000301067.7 - 42 13902 c.13903C>T c.(13903-13905)Cag>Tag p.Q4635* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.Q4365*(1)|p.Q4635*(1) ATCTTCTGCTGCACCGATGGG 0.627000 5 12 0 0 0.248553 0 0 KIF2B 84643 broad.mit.edu 37 17 51901324 51901324 + Silent SNP G G A rs139246128 TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr17:51901324G>A ENST00000268919.4 + 1 1086 c.930G>A c.(928-930)acG>acA p.T310T NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 310 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.T310T(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GTGGGAAGACGTACACCATGG 0.547000 64 70 0 0 0.870114 0 0 OR8K3 219473 broad.mit.edu 37 11 56086697 56086697 + Missense_Mutation SNP T T A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr11:56086697T>A ENST00000312711.1 + 1 915 c.915T>A c.(913-915)aaT>aaA p.N305K NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N305K(1) central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) GGACATGGAATAACTTATGTA 0.328000 9 31 0 0 0.335167 0 0 RSRC2 65117 broad.mit.edu 37 12 122992836 122992836 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr12:122992836C>T ENST00000331738.7 - 8 1109 c.964G>A c.(964-966)Gct>Act p.A322T RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Missense_Mutation_p.A274T NM_023012.5 NP_075388.2 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 322 p.A322T(1) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) GGATTAACAGCGGCTGGGTTA 0.448000 20 97 0 0 0.667858 0 0 EZH1 2145 broad.mit.edu 37 17 40870014 40870014 + Missense_Mutation SNP T T C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr17:40870014T>C ENST00000428826.2 - 10 1124 c.1003A>G c.(1003-1005)Aca>Gca p.T335A EZH1_ENST00000435174.1_Missense_Mutation_p.T196A|EZH1_ENST00000415827.2_Missense_Mutation_p.T326A|EZH1_ENST00000585893.1_Missense_Mutation_p.T295A|EZH1_ENST00000590078.1_Missense_Mutation_p.T265A|EZH1_ENST00000592743.1_Missense_Mutation_p.T335A Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 335 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding p.T335A(1) breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) AAGCAGTCTGTGCCACATGGT 0.428000 12 57 0 0 0.457914 0 0 FAM193A 8603 broad.mit.edu 37 4 2701583 2701583 + Missense_Mutation SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr4:2701583G>C ENST00000324666.5 + 17 3162 c.2811G>C c.(2809-2811)aaG>aaC p.K937N FAM193A_ENST00000502458.1_Missense_Mutation_p.K959N|FAM193A_ENST00000505311.1_Missense_Mutation_p.K937N|FAM193A_ENST00000545951.1_Missense_Mutation_p.K937N|FAM193A_ENST00000382839.3_Missense_Mutation_p.K937N NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 937 Poly-Lys. p.K937N(1) NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 AAAAGAAGAAGAAGGAGAGGC 0.478000 28 74 0 0 0.740014 0 0 UPP2 151531 broad.mit.edu 37 2 158980394 158980394 + Silent SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr2:158980394C>G ENST00000605860.1 + 9 1015 c.969C>G c.(967-969)ctC>ctG p.L323L UPP2_ENST00000005756.4_Silent_p.L266L|UPP2_ENST00000409859.4_Silent_p.L323L|UPP2_ENST00000460456.1_3'UTR O95045 UPP2_HUMAN uridine phosphorylase 2 266 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity p.L266L(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 TGTGTGGACTCTGTGGTCTAA 0.388000 36 102 0 0 0.834066 0 0 MYH2 4620 broad.mit.edu 37 17 10442618 10442618 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr17:10442618C>T ENST00000245503.5 - 14 1704 c.1320G>A c.(1318-1320)ctG>ctA p.L440L MYH2_ENST00000532183.2_Silent_p.L440L|MYH2_ENST00000397183.2_Silent_p.L440L|CTC-297N7.11_ENST00000587182.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 440 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.L440L(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CAACCATCCACAGGAACATCT 0.473000 47 247 0 0 0.870114 0 0 CELSR3 1951 broad.mit.edu 37 3 48698817 48698817 + Silent SNP C C T rs111946927 TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr3:48698817C>T ENST00000544264.1 - 1 1531 c.1251G>A c.(1249-1251)acG>acA p.T417T CELSR3_ENST00000164024.4_Silent_p.T417T Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 417 Cadherin 1. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding p.T417T(2)|p.M418L(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CGGCCACCATCGTGGTGGCCG 0.657000 17 56 0 0 0.592651 0 0 RIMBP3 85376 broad.mit.edu 37 22 20457929 20457929 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr22:20457929C>T ENST00000426804.1 - 1 3857 c.3373G>A c.(3373-3375)Ggt>Agt p.G1125S NM_015672.1 NP_056487.1 RIMS binding protein 3 p.G1125S(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) ACAGCATAACCGGTGACCTGG 0.592000 4 28 0 0 0.248553 0 0 FAM63B 54629 broad.mit.edu 37 15 59146724 59146724 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr15:59146724C>G ENST00000559228.1 + 9 1863 c.1781C>G c.(1780-1782)tCt>tGt p.S594C FAM63B_ENST00000450403.2_Missense_Mutation_p.S593C Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 594 p.S594C(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 GGAAGACAATCTGGGAATAGT 0.378000 22 59 0 0 0.624587 0 0 OR10S1 219873 broad.mit.edu 37 11 123848195 123848195 + Silent SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr11:123848195G>C ENST00000531945.1 - 1 293 c.204C>G c.(202-204)ctC>ctG p.L68L NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L68L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TGGGTAAGCTGAGGTGAGAGT 0.542000 7 35 0 0 0.248553 0 0 ASF1A 25842 broad.mit.edu 37 6 119226948 119226948 + Silent SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr6:119226948G>A ENST00000229595.5 + 3 551 c.357G>A c.(355-357)gaG>gaA p.E119E MCM9_ENST00000316316.6_Intron NM_014034.2 NP_054753.1 Q9Y294 ASF1A_HUMAN anti-silencing function 1A histone chaperone 119 Interaction with histone H3, CHAF1B, and HIRA. chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent chromatin remodeling complex chromatin binding|histone binding p.E119E(1) endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1) 5 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188) AATATACTGAGACAGAATTAA 0.323000 33 73 0 0 0.740014 0 0 CRX 1406 broad.mit.edu 37 19 48343102 48343102 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr19:48343102G>A ENST00000221996.7 + 4 984 c.778G>A c.(778-780)Gcc>Acc p.A260T CRX_ENST00000539067.1_Missense_Mutation_p.A260T|TPRX2P_ENST00000535362.1_Intron NM_000554.4 NP_000545.1 O43186 CRX_HUMAN cone-rod homeobox 260 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A260T(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) GAGCTATGGCGCCTACAGCCC 0.632000 99 236 0 0 0.870114 0 0 AP2S1 1175 broad.mit.edu 37 19 47349397 47349397 + Silent SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr19:47349397G>A ENST00000263270.6 - 2 231 c.6C>T c.(4-6)atC>atT p.I2I AP2S1_ENST00000599990.1_Silent_p.I4I|AP2S1_ENST00000601649.1_Silent_p.I2I|AP2S1_ENST00000352203.4_Silent_p.I2I|AP2S1_ENST00000597020.1_5'UTR|AP2S1_ENST00000593442.1_Intron|AP2S1_ENST00000601498.1_Silent_p.I18I NM_004069.3 NP_004060.2 P53680 AP2S1_HUMAN adaptor-related protein complex 2, sigma 1 subunit 2 axon guidance|clathrin coat assembly|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|regulation of endocytosis|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol protein transporter activity p.I2I(1) central_nervous_system(1)|lung(1)|urinary_tract(1) 3 all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128) OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336) GGATAAAGCGGATCTGGGGGC 0.597000 18 50 0 0 0.592651 0 0 TPGS2 25941 broad.mit.edu 37 18 34387820 34387820 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr18:34387820C>T ENST00000334295.4 - 3 670 c.243G>A c.(241-243)gtG>gtA p.V81V TPGS2_ENST00000587129.1_Silent_p.V81V|TPGS2_ENST00000383056.3_Silent_p.V81V|TPGS2_ENST00000593035.1_Silent_p.V81V|TPGS2_ENST00000589049.1_Silent_p.V81V|TPGS2_ENST00000590842.1_Silent_p.V81V NM_015476.2 NP_056291.2 Q68CL5 TPGS2_HUMAN tubulin polyglutamylase complex subunit 2 81 cytoplasm|microtubule p.V81V(1) catccagcttcACACTCCATG 0.453000 33 66 0 0 0.769981 0 0 CREBBP 1387 broad.mit.edu 37 16 3781375 3781375 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr16:3781375G>A ENST00000262367.5 - 30 5799 c.4990C>T c.(4990-4992)Cgc>Tgc p.R1664C CREBBP_ENST00000382070.3_Missense_Mutation_p.R1626C NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1664 Interaction with TRERF1. R -> H (in RSTS1; abolishes acetyltransferase activity). cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.R1664C(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AAGGCGTCGCGCCCATCCATG 0.642000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 6 10 0 0 0.217242 0 0 ZNF517 340385 broad.mit.edu 37 8 146033636 146033636 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr8:146033636C>T ENST00000359971.3 + 5 1442 c.1335C>T c.(1333-1335)ctC>ctT p.L445L ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000531720.1_Silent_p.L445L NM_213605.2 NP_998770.2 Q6ZMY9 ZN517_HUMAN zinc finger protein 517 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L445L(1) breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) ACTACCGGCTCCACAGCGGCG 0.682000 11 13 0 0 0.435327 0 0 TCF25 22980 broad.mit.edu 37 16 89977011 89977011 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr16:89977011C>G ENST00000263346.8 + 17 1868 c.1812C>G c.(1810-1812)atC>atG p.I604M RP11-566K11.7_ENST00000570217.1_RNA|TCF25_ENST00000263347.7_Missense_Mutation_p.Q409E NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 604 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.I604M(1) breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TAAGTCCTATCAGCCATGGAA 0.557000 OREG0024057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 90 0 0 0.624587 0 0 KIF18A 81930 broad.mit.edu 37 11 28090880 28090880 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr11:28090880C>G ENST00000263181.6 - 11 1806 c.1516G>C c.(1516-1518)Gat>Cat p.D506H NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 506 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding p.D506H(1) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 GTATTCTCATCAAATTGCTTC 0.413000 24 58 0 0 0.654019 0 0 SGSM2 9905 broad.mit.edu 37 17 2265472 2265472 + Silent SNP C C T rs113450178 TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr17:2265472C>T ENST00000268989.3 + 4 543 c.366C>T c.(364-366)ctC>ctT p.L122L SGSM2_ENST00000426855.2_Silent_p.L122L|SGSM2_ENST00000574563.1_Silent_p.L122L NM_014853.2 NP_055668.2 O43147 SGSM2_HUMAN small G protein signaling modulator 2 122 RUN. intracellular Rab GTPase activator activity p.L122L(1) biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) CCCCGGCCCTCAGCCCTCAGG 0.642000 109 125 0 0 0.870114 0 0 CACNA1S 779 broad.mit.edu 37 1 201056980 201056980 + Silent SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr1:201056980G>A ENST00000362061.3 - 7 1204 c.978C>T c.(976-978)ctC>ctT p.L326L CACNA1S_ENST00000367338.3_Silent_p.L326L NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 326 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity p.L326L(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GCACCAGGTTGAGGATGAAGA 0.502000 11 81 0 0 0.387290 0 0 EPHA1 2041 broad.mit.edu 37 7 143096402 143096402 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr7:143096402C>T ENST00000275815.3 - 5 1026 c.940G>A c.(940-942)Gag>Aag p.E314K NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 314 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity p.E314K(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) TGGCCGCTCTCACAGGTACAG 0.657000 47 87 0 0 0.853193 0 0 KIAA1551 55196 broad.mit.edu 37 12 32138214 32138214 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr12:32138214G>A ENST00000312561.4 + 4 4739 c.4325G>A c.(4324-4326)aGa>aAa p.R1442K KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639 KIAA1551 p.R1442K(1) AAATTTAGTAGAATTCTAACT 0.358000 32 99 0 0 0.779181 0 0 OR8B4 283162 broad.mit.edu 37 11 124294748 124294748 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr11:124294748G>A ENST00000356130.3 - 1 41 c.20C>T c.(19-21)tCc>tTc p.S7F NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S7F(1) endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AGTCACTGAGGAGCTGTTTCT 0.483000 6 17 0 0 0.248553 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 15 28 0 0 0.539581 0 0 ACTL6A 86 broad.mit.edu 37 3 179291159 179291159 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr3:179291159G>A ENST00000429709.2 + 4 493 c.280G>A c.(280-282)Gaa>Aaa p.E94K ACTL6A_ENST00000450518.2_Missense_Mutation_p.E52K|ACTL6A_ENST00000392662.1_Missense_Mutation_p.E52K NM_004301.3 NP_004292.1 O96019 ACL6A_HUMAN actin-like 6A 94 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding p.E94K(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 21 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) TATTCTAGTTGAAGACTGGGA 0.343000 27 120 0 0 0.667858 0 0 SNAPC4 6621 broad.mit.edu 37 9 139273744 139273744 + Silent SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr9:139273744G>C ENST00000298532.2 - 21 2903 c.2535C>G c.(2533-2535)ctC>ctG p.L845L NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 845 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.L845L(1) 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) CGTTTGGGAAGAGGTGGCCTG 0.637000 13 17 0 0 0.411799 0 0 BPIFB4 149954 broad.mit.edu 37 20 31699226 31699226 + Silent SNP T T C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr20:31699226T>C ENST00000375483.3 + 16 1828 c.1828T>C c.(1828-1830)Ttg>Ctg p.L610L BPIFB4_ENST00000494121.1_3'UTR NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 610 cytoplasm|extracellular region lipid binding p.L571L(1) CAAGGACCTTTTGGTGCTGAG 0.587000 22 47 0 0 0.639603 0 0 SLC38A6 145389 broad.mit.edu 37 14 61486269 61486269 + Missense_Mutation SNP C C A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr14:61486269C>A ENST00000354886.2 + 5 538 c.374C>A c.(373-375)gCa>gAa p.A125E SLC38A6_ENST00000456840.2_Missense_Mutation_p.A102E|SLC38A6_ENST00000267488.4_Missense_Mutation_p.A125E NM_001172702.1 NP_001166173.1 Q8IZM9 S38A6_HUMAN solute carrier family 38, member 6 125 amino acid transport|sodium ion transport integral to membrane p.A125E(2) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.0981) TTGGTGGTGGCAGGCACCATA 0.313000 44 105 2.13384e-23 2.32952e-23 0.870114 1 0 IRF7 3665 broad.mit.edu 37 11 612784 612784 + Missense_Mutation SNP C C A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr11:612784C>A ENST00000397566.1 - 9 1821 c.1412G>T c.(1411-1413)tGc>tTc p.C471F IRF7_ENST00000525445.1_Missense_Mutation_p.C352F|IRF7_ENST00000348655.6_Missense_Mutation_p.C429F|IRF7_ENST00000397570.1_Missense_Mutation_p.C429F|IRF7_ENST00000330243.5_Missense_Mutation_p.C471F|IRF7_ENST00000397562.3_Missense_Mutation_p.C165F|IRF7_ENST00000397574.2_Missense_Mutation_p.C458F NM_004031.2 NP_004022.2 Q92985 IRF7_HUMAN interferon regulatory factor 7 458 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.C471F(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTGCACTCGGCACAGCCAGGG 0.672000 22 52 3.6726e-16 3.95755e-16 0.667858 1 0 RNF216 54476 broad.mit.edu 37 7 5662766 5662766 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr7:5662766C>G ENST00000425013.2 - 17 2550 c.2326G>C c.(2326-2328)Gag>Cag p.E776Q RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.E833Q NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 776 Pro-rich. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding p.E833Q(1) FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TGCACCTTCTCCACAGGCTTC 0.577000 23 66 0 0 0.681144 0 0 CAPN15 6650 broad.mit.edu 37 16 601635 601635 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr16:601635C>T ENST00000219611.2 + 9 2679 c.2316C>T c.(2314-2316)gtC>gtT p.V772V LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 p.V772V(1) GTGAGGGTGTCTTCTGGATGG 0.672000 30 55 0 0 0.760397 0 0 KMT2B 9757 broad.mit.edu 37 19 36221009 36221009 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr19:36221009G>A ENST00000420124.1 + 23 5059 c.5059G>A c.(5059-5061)Gat>Aat p.D1687N KMT2B_ENST00000222270.7_Missense_Mutation_p.D1687N|KMT2B_ENST00000607650.1_RNA lysine (K)-specific methyltransferase 2B p.D1689N(1) GAAACACACTGATCTCCTGGA 0.587000 8 21 0 0 0.335167 0 0 ATP13A2 23400 broad.mit.edu 37 1 17330838 17330838 + Silent SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr1:17330838G>A ENST00000452699.1 - 6 720 c.531C>T c.(529-531)ttC>ttT p.F177F ATP13A2_ENST00000341676.5_Silent_p.F177F|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Silent_p.F182F NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 182 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.F182F(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) TGACCTGGTAGAAGGCTTGCT 0.607000 7 31 0 0 0.307466 0 0 PKD1 5310 broad.mit.edu 37 16 2155925 2155925 + Nonsense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr16:2155925G>A ENST00000262304.4 - 20 8012 c.7804C>T c.(7804-7806)Cag>Tag p.Q2602* PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Nonsense_Mutation_p.Q2602* NM_001009944.2 NP_001009944 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2602 REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding p.Q2602*(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GGATCGGCCTGCCGCAGCAGC 0.657000 20 51 0 0 0.557998 0 0 MTPAP 55149 broad.mit.edu 37 10 30602779 30602779 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr10:30602779C>T ENST00000358107.4 - 10 1897 c.1898G>A c.(1897-1899)cGa>cAa p.R633Q MTPAP_ENST00000263063.4_Missense_Mutation_p.R503Q|MTPAP_ENST00000488290.1_5'UTR Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase 503 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding p.R503Q(2)|p.R633Q(2) breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 GGCACTTTCTCGGGCCAAATC 0.428000 57 141 0 0 0.870114 0 0 PLCD3 113026 broad.mit.edu 37 17 43195396 43195396 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr17:43195396C>T ENST00000322765.5 - 7 1338 c.1225G>A c.(1225-1227)Gac>Aac p.D409N PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 409 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.D409N(2) breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) TGGACCACGTCCCGGAAGAGA 0.657000 8 31 0 0 0.278610 0 0 MSH5-SAPCD1 100532732 broad.mit.edu 37 6 31727896 31727896 + Missense_Mutation SNP C C A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr6:31727896C>A ENST00000493662.2 + 19 1822 c.1766C>A c.(1765-1767)aCc>aAc p.T589N MSH5_ENST00000395853.1_Missense_Mutation_p.T246N|MSH5_ENST00000375703.3_Missense_Mutation_p.T572N|MSH5_ENST00000375750.3_Missense_Mutation_p.T572N|MSH5_ENST00000534153.4_Missense_Mutation_p.T589N|MSH5_ENST00000375742.3_Missense_Mutation_p.T589N|MSH5_ENST00000375740.3_Missense_Mutation_p.T589N|MSH5_ENST00000375755.3_Missense_Mutation_p.T572N|MSH5_ENST00000431848.2_Missense_Mutation_p.T271N p.T589N(1)|p.T572N(1) TGTGCCCGAACCTTTGTGCCC 0.532000 78 169 9.34078e-37 1.03786e-36 0.870114 1 0 LAMB2 3913 broad.mit.edu 37 3 49166159 49166159 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr3:49166159C>G ENST00000418109.1 - 15 1989 c.1825G>C c.(1825-1827)Gag>Cag p.E609Q LAMB2_ENST00000305544.4_Missense_Mutation_p.E609Q NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 609 Laminin IV type B. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity p.E609Q(1) NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACCAGGAACTCCAGGGTCTGA 0.607000 47 105 0 0 0.870114 0 0 CCDC60 160777 broad.mit.edu 37 12 119942996 119942996 + Silent SNP G G T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr12:119942996G>T ENST00000327554.2 + 7 1236 c.771G>T c.(769-771)gtG>gtT p.V257V RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 257 p.V257V(1) endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) TGATCTCTGTGAACCCTGGCT 0.577000 86 274 2.79443e-65 3.11878e-65 0.870114 1 0 FJX1 24147 broad.mit.edu 37 11 35640755 35640755 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr11:35640755G>A ENST00000317811.4 + 1 1021 c.571G>A c.(571-573)Gag>Aag p.E191K NM_014344.3 NP_055159.2 Q86VR8 FJX1_HUMAN four jointed box 1 (Drosophila) 191 extracellular space p.E191K(2) lung(1)|urinary_tract(1) 2 all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739) all_hematologic(20;0.107) GATTCAGGGCGAGGCCCTGTC 0.731000 3 5 0 0 0.150653 0 0 SGOL1 151648 broad.mit.edu 37 3 20218129 20218129 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr3:20218129C>T ENST00000412997.1 - 5 790 c.439G>A c.(439-441)Gaa>Aaa p.E147K SGOL1_ENST00000429446.3_Missense_Mutation_p.E147K|SGOL1_ENST00000443724.1_Missense_Mutation_p.E147K|SGOL1_ENST00000417364.1_Missense_Mutation_p.E147K|SGOL1_ENST00000383774.1_Missense_Mutation_p.E147K|SGOL1_ENST00000452020.1_Missense_Mutation_p.E147K|SGOL1_ENST00000306698.2_Missense_Mutation_p.E147K|SGOL1_ENST00000437051.1_Missense_Mutation_p.E147K|SGOL1_ENST00000425061.1_Missense_Mutation_p.E147K|SGOL1_ENST00000263753.4_Missense_Mutation_p.E147K|SGOL1_ENST00000412868.1_Missense_Mutation_p.E147K|SGOL1_ENST00000442720.1_Missense_Mutation_p.E147K|SGOL1_ENST00000419233.2_Missense_Mutation_p.E147K|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000421451.1_Missense_Mutation_p.E147K|SGOL1-AS1_ENST00000441442.1_RNA NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 147 Necessary for interaction with PPP2CA and PPP2R1A. attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding p.E147K(1) kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 CCTGGAAGTTCAGTTTCTTCA 0.254000 11 46 0 0 0.411799 0 0 BOD1L1 259282 broad.mit.edu 37 4 13602850 13602850 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr4:13602850C>T ENST00000040738.5 - 10 5809 c.5674G>A c.(5674-5676)Gaa>Aaa p.E1892K NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1892 DNA binding p.E1892K(1) CCTTCACTTTCTTCTCCTAAC 0.483000 41 105 0 0 0.840704 0 0 SRPRB 58477 broad.mit.edu 37 3 133534474 133534474 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr3:133534474G>A ENST00000466490.2 + 6 736 c.451G>A c.(451-453)Gag>Aag p.E151K NM_021203.3 NP_067026.3 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, B subunit 151 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity p.E151K(1) breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 ATTCCAGCGAGAGGTGAAAGA 0.433000 216 164 0 0 0.870114 0 0 MASP1 5648 broad.mit.edu 37 3 186954017 186954017 + Nonsense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr3:186954017G>A ENST00000296280.6 - 11 1867 c.1642C>T c.(1642-1644)Caa>Taa p.Q548* MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Nonsense_Mutation_p.Q435* NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 547 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity p.Q548*(1) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TTGTAGTTTTGGATGTTGAAG 0.582000 129 86 0 0 0.870114 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561631 11561631 + Missense_Mutation SNP G G T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr1:11561631G>T ENST00000294484.6 + 2 720 c.582G>T c.(580-582)aaG>aaT p.K194N PTCHD2_ENST00000389575.3_Missense_Mutation_p.K194N NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 194 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity p.K411N(1) NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CGGCTCAAAAGCCCACAGCCA 0.697000 8 12 0.00448238 0.00451853 0.307466 1 0 GTSE1 51512 broad.mit.edu 37 22 46722532 46722532 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr22:46722532C>T ENST00000454366.1 + 9 1917 c.1705C>T c.(1705-1707)Cgc>Tgc p.R569C NM_016426.6 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 550 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule p.R569C(1)|p.R550C(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) CTCTGAGCCCCGCAAGAACTC 0.562000 11 62 0 0 0.575678 0 0 PHIP 55023 broad.mit.edu 37 6 79727268 79727268 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr6:79727268G>A ENST00000275034.4 - 11 1194 c.1027C>T c.(1027-1029)Cat>Tat p.H343Y NM_017934.5 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 343 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding p.H343Y(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) CGAATAATATGATCTGTGCTT 0.323000 18 39 0 0 0.575678 0 0 IL6ST 3572 broad.mit.edu 37 5 55247891 55247891 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr5:55247891C>G ENST00000381298.2 - 13 1877 c.1565G>C c.(1564-1566)gGa>gCa p.G522A IL6ST_ENST00000502326.3_Missense_Mutation_p.G522A|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381294.3_Missense_Mutation_p.G461A|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.G522A|IL6ST_ENST00000536319.1_3'UTR NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 522 Fibronectin type-III 5. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity p.G522A(1) breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) AACAGTAGGTCCTTTGGAAGG 0.348000 O hepatocellular ca 25 49 0 0 0.693898 0 0 KLHDC4 54758 broad.mit.edu 37 16 87743101 87743101 + Missense_Mutation SNP C C A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr16:87743101C>A ENST00000270583.5 - 10 1275 c.1217G>T c.(1216-1218)gGc>gTc p.G406V KLHDC4_ENST00000353170.5_Missense_Mutation_p.G349V|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000347925.5_Missense_Mutation_p.G375V NM_017566.3 NP_060036.2 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 406 p.G406V(1) breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 21 BRCA - Breast invasive adenocarcinoma(80;0.0283) CCCCGCCGAGCCTGGCGCGGT 0.697000 13 37 3.51602e-12 3.72459e-12 0.575678 1 0 SH3BP4 23677 broad.mit.edu 37 2 235962412 235962412 + Silent SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr2:235962412G>A ENST00000409212.1 + 6 3351 c.2844G>A c.(2842-2844)ctG>ctA p.L948L SH3BP4_ENST00000392011.2_Silent_p.L948L|SH3BP4_ENST00000344528.4_Silent_p.L948L Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 948 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding p.L948L(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) TGGACGTTCTGAGAGCAGCCG 0.597000 75 176 0 0 0.870114 0 0 NBEA 26960 broad.mit.edu 37 13 35619479 35619479 + Nonsense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr13:35619479C>T ENST00000540320.1 + 4 1198 c.664C>T c.(664-666)Cag>Tag p.Q222* NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q222*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q222*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.Q222* Q8NFP9 NBEA_HUMAN neurobeachin 222 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding p.Q222*(1) NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AGTTCTTAATCAGATGCCACA 0.323000 7 14 0 0 0.248553 0 0 ZNF790 388536 broad.mit.edu 37 19 37310567 37310567 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr19:37310567C>G ENST00000356725.4 - 5 799 c.679G>C c.(679-681)Gaa>Caa p.E227Q CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA NM_001242802.1|NM_206894.3 NP_001229731.1|NP_996777.2 Q6PG37 ZN790_HUMAN zinc finger protein 790 227 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E227Q(1) biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 32 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TCTTTACATTCATATGTTTTC 0.348000 27 53 0 0 0.706142 0 0 TP53I3 9540 broad.mit.edu 37 2 24305998 24305998 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr2:24305998G>A ENST00000238721.4 - 2 1017 c.163C>T c.(163-165)Cca>Tca p.P55S FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000407482.1_Missense_Mutation_p.P55S|TP53I3_ENST00000313482.4_Missense_Mutation_p.P55S|TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000335934.4_Missense_Mutation_p.P55S NM_004881.4 NP_004872.2 Q53FA7 QORX_HUMAN tumor protein p53 inducible protein 3 55 induction of apoptosis by oxidative stress|NADP metabolic process NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding p.P55S(1) endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGGCTCCTGGAGGTGGGTCA 0.562000 60 145 0 0 0.870114 0 0 RGP1 9827 broad.mit.edu 37 9 35752111 35752111 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr9:35752111C>T ENST00000378078.4 + 8 1062 c.921C>T c.(919-921)ctC>ctT p.L307L RGP1_ENST00000456972.2_Silent_p.L347L NM_001080496.2 NP_001073965.2 Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog (S. cerevisiae) 307 p.L307L(1)|p.L347L(1) cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CAATCCCTCTCAGCTCCACCC 0.567000 24 16 0 0 0.681144 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261650 39261650 + Missense_Mutation SNP T T C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr17:39261650T>C ENST00000391415.1 + 1 67 c.10T>C c.(10-12)Tcc>Ccc p.S4P NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 4 keratin filament p.S4P(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 CATGGTCAGCTCCTGTTGTGG 0.592000 9 28 0 0 0.520397 0 0 GLB1 2720 broad.mit.edu 37 3 33038825 33038825 + Missense_Mutation SNP C C A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr3:33038825C>A ENST00000307363.5 - 16 1890 c.1746G>T c.(1744-1746)tgG>tgT p.W582C GLB1_ENST00000399402.3_Missense_Mutation_p.W552C|GLB1_ENST00000445488.2_Missense_Mutation_p.W630C|GLB1_ENST00000307377.8_Missense_Mutation_p.W451C NM_000404.2 NP_000395 P16278 BGAL_HUMAN galactosidase, beta 1 582 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding p.W582C(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) AGCCATTAATCCAGACCTGGC 0.597000 18 40 1.56452e-12 1.66439e-12 0.557998 1 0 GUCY1B3 2983 broad.mit.edu 37 4 156723403 156723403 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr4:156723403C>T ENST00000507146.1 + 11 1510 c.1010C>T c.(1009-1011)aCg>aTg p.T337M GUCY1B3_ENST00000505764.1_Intron|GUCY1B3_ENST00000505154.1_Intron|GUCY1B3_ENST00000264424.8_Intron|GUCY1B3_ENST00000513437.1_Intron|GUCY1B3_ENST00000502959.1_Intron|GUCY1B3_ENST00000503520.1_Intron Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 392 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) AAAGTACAAACGACACTGATG 0.378000 9 6 0 0 0.307466 0 0 MICALL1 85377 broad.mit.edu 37 22 38327931 38327931 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr22:38327931C>T ENST00000215957.6 + 10 2133 c.2007C>T c.(2005-2007)atC>atT p.I669I MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 669 cytoplasm|cytoskeleton protein binding|zinc ion binding p.I669I(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) TTCCACTCATCAAACGCAAGG 0.642000 31 65 0 0 0.804634 0 0 MAGI2 9863 broad.mit.edu 37 7 77885323 77885323 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr7:77885323C>T ENST00000354212.4 - 10 2237 c.1984G>A c.(1984-1986)Gta>Ata p.V662I MAGI2_ENST00000536571.1_Missense_Mutation_p.V494I|MAGI2_ENST00000535697.1_Missense_Mutation_p.V499I|MAGI2_ENST00000419488.1_Missense_Mutation_p.V662I|MAGI2_ENST00000522391.1_Missense_Mutation_p.V662I NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 662 PDZ 3. cell junction|synapse|synaptosome phosphatase binding p.V662I(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ATATCCACTACTTCTGTATGG 0.438000 12 26 0 0 0.387290 0 0 GPR37 2861 broad.mit.edu 37 7 124404704 124404704 + Silent SNP G G T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr7:124404704G>T ENST00000303921.2 - 1 977 c.327C>A c.(325-327)ccC>ccA p.P109P NM_005302.3 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 109 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity p.P109P(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GAGGTCCCGGGGGTCCGGCTG 0.726000 24 48 1.66031e-10 1.73672e-10 0.667858 1 0 BEST1 7439 broad.mit.edu 37 11 61729849 61729849 + Nonsense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr11:61729849C>G ENST00000449131.2 + 9 1129 c.1043C>G c.(1042-1044)tCa>tGa p.S348* BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000378042.3_Nonsense_Mutation_p.S321*|BEST1_ENST00000378043.4_Nonsense_Mutation_p.S408*|BEST1_ENST00000435278.2_3'UTR|BEST1_ENST00000301774.9_Nonsense_Mutation_p.S36*|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron NM_001139443.1 NP_001132915.1 O76090 BEST1_HUMAN bestrophin 1 408 response to stimulus|transepithelial chloride transport|visual perception basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction chloride channel activity p.S408*(1)|p.S348*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2) 25 AGGGCAAACTCAAGGACCAAA 0.577000 22 62 0 0 0.608945 0 0 CELSR2 1952 broad.mit.edu 37 1 109806952 109806952 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr1:109806952G>A ENST00000271332.3 + 10 5315 c.5254G>A c.(5254-5256)Ggc>Agc p.G1752S NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1752 Laminin G-like 2. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding p.G1752S(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TGGGCCAGCCGGCGGTGTGGC 0.667000 OREG0013632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 111 0 0 0.847076 0 0 PAX4 5078 broad.mit.edu 37 7 127255253 127255253 + Missense_Mutation SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr7:127255253G>C ENST00000463946.1 - 1 471 c.11C>G c.(10-12)tCc>tGc p.S4C PAX4_ENST00000341640.2_Intron|PAX4_ENST00000338516.3_Intron|PAX4_ENST00000378740.2_Intron O43316 PAX4_HUMAN paired box 4 102 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 AGACTTACTGGACCAGGCCAT 0.572000 14 31 0 0 0.435327 0 0 DNAH2 146754 broad.mit.edu 37 17 7702000 7702000 + Silent SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr17:7702000G>A ENST00000572933.1 + 55 9983 c.8523G>A c.(8521-8523)gaG>gaA p.E2841E DNAH2_ENST00000389173.2_Silent_p.E2841E Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2841 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E2841E(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GCTCAGGCGAGGTGCCCAATC 0.512000 82 74 0 0 0.870114 0 0 KMT2C 58508 broad.mit.edu 37 7 151855998 151855998 + Nonsense_Mutation SNP C C A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr7:151855998C>A ENST00000355193.2 - 44 11838 c.11620G>T c.(11620-11622)Gag>Tag p.E3874* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.E3874* lysine (K)-specific methyltransferase 2C p.E3874*(2) GCTTGTTTCTCCTCTTCGTCC 0.458000 102 276 2.43152e-32 2.67788e-32 0.870114 1 0 MINPP1 9562 broad.mit.edu 37 10 89268152 89268152 + Missense_Mutation SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr10:89268152G>C ENST00000371996.4 + 2 738 c.697G>C c.(697-699)Gag>Cag p.E233Q MINPP1_ENST00000536010.1_Missense_Mutation_p.E32Q|MINPP1_ENST00000371994.4_Missense_Mutation_p.E233Q NM_004897.4 NP_004888.2 Q9UNW1 MINP1_HUMAN multiple inositol-polyphosphate phosphatase 1 233 bone mineralization|polyphosphate metabolic process endoplasmic reticulum lumen acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity p.E233Q(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2) 5 Colorectal(252;0.122) UCEC - Uterine corpus endometrioid carcinoma (6;0.00123) TGATCACTGTGAGAAGTTTTT 0.313000 23 38 0 0 0.639603 0 0 KRBA2 124751 broad.mit.edu 37 17 8285553 8285553 + Missense_Mutation SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr17:8285553G>C ENST00000582471.1 - 2 126 c.76C>G c.(76-78)Cga>Gga p.R26G RPL26_ENST00000585176.1_Intron|RPL26_ENST00000582556.1_Missense_Mutation_p.R26G|RPL26_ENST00000583011.1_Missense_Mutation_p.R26G|RPL26_ENST00000584164.1_Missense_Mutation_p.R26G|RPL26_ENST00000578812.1_Missense_Mutation_p.R26G|RPL26_ENST00000293842.5_Missense_Mutation_p.R26G p.R26G(1) ATCTTCCTTCGAATGTGGGAA 0.418000 16 89 0 0 0.479597 0 0 KPNA3 3839 broad.mit.edu 37 13 50306520 50306520 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr13:50306520C>G ENST00000261667.3 - 6 784 c.370G>C c.(370-372)Gaa>Caa p.E124Q NM_002267.3 NP_002258.2 O00505 IMA3_HUMAN karyopherin alpha 3 (importin alpha 4) 124 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly cytoplasm|nuclear pore nuclear localization sequence binding|protein transporter activity p.E124Q(1) cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4) 21 Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.42e-09) TCATCCCTTTCTAGACATTTG 0.308000 25 64 0 0 0.667858 0 0 METTL12 751071 broad.mit.edu 37 11 62433975 62433975 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr11:62433975G>A ENST00000532971.1 + 3 432 c.175G>A c.(175-177)Gaa>Aaa p.E59K C11orf48_ENST00000532208.1_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000354588.3_Intron NM_001043229.1 NP_001036694.1 A8MUP2 MTL12_HUMAN methyltransferase like 12 59 mitochondrion methyltransferase activity p.E59K(1) endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 6 TGGATACGACGAAGTCCAGGG 0.612000 50 93 0 0 0.870114 0 0 LOC100506457 100506457 broad.mit.edu 37 2 12293343 12293351 + RNA DEL TTCCTTCCC TTCCTTCCC - rs112549370 TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr2:12293343_12293351delTTCCTTCCC ENST00000412294.1 + 0 197 cttcattcctttccttcccttccttccct 0.426 2 4 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82580534 82580534 + Frame_Shift_Del DEL C C - TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr7:82580534delC ENST00000333891.9 - 6 9707 c.9370delG c.(9370-9372)gctfs p.A3124fs PCLO_ENST00000423517.2_Frame_Shift_Del_p.A3124fs NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ACTGCATCAGCCGTATGAATA 0.453 12 21 --- --- --- --- LGALS9B 284194 broad.mit.edu 37 17 20370782 20370783 + Translation_Start_Site INS - - TC rs147679570 TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr17:20370782_20370783insTC ENST00000423676.3 - 0 64_65 LGALS9B_ENST00000324290.5_Start_Codon_Ins Q3B8N2 LEG9B_HUMAN lectin, galactoside-binding, soluble, 9B sugar binding p.M1fs*12(1) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 10 GCTGAAGGCCATCTCCACCGCC 0.584 4 6 --- --- --- --- CECR7 100130418 broad.mit.edu 37 22 17528433 17528434 + RNA INS - - TT TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9377460a-8497-41b8-b2c2-5f50cfeda1fe 6f297c27-b481-4101-833d-bd43bd80ba29 g.chr22:17528433_17528434insTT ENST00000441006.1 + 0 1006 NR_015352.1 ACAGTAGTGGCTTTTTTTTCTG 0.446 3 2 --- --- --- ---