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 RBM27 54439 broad.mit.edu 37 5 145664246 145664246 + Missense_Mutation SNP A A T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr5:145664246A>T ENST00000265271.5 + 20 3216 c.3050A>T c.(3049-3051)aAg>aTg p.K1017M RBM27_ENST00000506502.1_Intron NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 1017 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CACAAGCCCAAGGTACCATCT 0.378000 33 68 0 0 1 0 0 PAK2 5062 broad.mit.edu 37 3 196509546 196509546 + Missense_Mutation SNP A A G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr3:196509546A>G ENST00000327134.3 + 2 351 c.29A>G c.(28-30)aAg>aGg p.K10R NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 10 axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) CTGGAAGATAAGCCTCCAGCA 0.418000 4 199 0 0 1 0 0 CLSTN1 22883 broad.mit.edu 37 1 9790619 9790619 + Missense_Mutation SNP T T A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr1:9790619T>A ENST00000377298.4 - 19 3685 c.2893A>T c.(2893-2895)Aac>Tac p.N965Y CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000361311.4_Missense_Mutation_p.N955Y|CLSTN1_ENST00000377288.3_Missense_Mutation_p.N946Y NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 965 homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) CGGGTTGCGTTCTGGGGGTCG 0.642000 16 55 0 0 1 0 0 DNALI1 7802 broad.mit.edu 37 1 38027685 38027685 + Missense_Mutation SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr1:38027685G>A ENST00000296218.7 + 5 656 c.646G>A c.(646-648)Gca>Aca p.A216T DNALI1_ENST00000541606.1_Missense_Mutation_p.A68T|DNALI1_ENST00000497858.1_3'UTR NM_003462.3 NP_003453.2 O14645 IDLC_HUMAN dynein, axonemal, light intermediate chain 1 194 cellular component movement|single fertilization axonemal dynein complex microtubule motor activity breast(1)|kidney(1)|large_intestine(2)|ovary(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TCCTCAGATCGCAGAATTGGA 0.557000 OREG0013380 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 55 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13470441 13470441 + Silent SNP C C G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr19:13470441C>G ENST00000360228.5 - 6 956 c.957G>C c.(955-957)ggG>ggC p.G319G CACNA1A_ENST00000573710.2_Silent_p.G319G NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 319 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GATCAGTCCACCCTTCCATGG 0.527000 9 19 0 0 1 0 0 KCNA7 3743 broad.mit.edu 37 19 49575540 49575540 + Silent SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr19:49575540C>T ENST00000221444.1 - 1 658 c.303G>A c.(301-303)gcG>gcA p.A101A NM_031886.2 NP_114092.2 Q96RP8 KCNA7_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 7 101 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2) 11 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441) GTGCCAGGGCCGCCGCGCCCA 0.746000 6 3 0 0 1 0 0 IFNA16 3449 broad.mit.edu 37 9 21217217 21217217 + Missense_Mutation SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr9:21217217G>A ENST00000380216.1 - 1 93 c.88C>T c.(88-90)Cac>Tac p.H30Y NM_002173.2 NP_002164.1 P05015 IFN16_HUMAN interferon, alpha 16 30 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) CCCAGGCTGTGAGTCTGAGGC 0.502000 119 112 0 0 1 0 0 MLLT6 4302 broad.mit.edu 37 17 36864101 36864101 + Silent SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr17:36864101C>T ENST00000325718.7 + 4 421 c.330C>T c.(328-330)taC>taT p.Y110Y MLLT6_ENST00000378137.5_Silent_p.Y110Y NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 110 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) TGCTGCAGTACGTGCCTCATG 0.617000 T MLL AL 14 38 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146678785 146678785 + Silent SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr6:146678785G>A ENST00000392299.2 + 6 2027 c.1557G>A c.(1555-1557)gtG>gtA p.V519V GRM1_ENST00000507907.1_Silent_p.V519V|GRM1_ENST00000282753.1_Silent_p.V519V|GRM1_ENST00000355289.4_Silent_p.V519V|GRM1_ENST00000361719.2_Silent_p.V519V|GRM1_ENST00000492807.2_Silent_p.V519V Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 519 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) AGAGTGGAGTGGTGCGGTCTG 0.478000 23 64 0 0 1 0 0 DLGAP4 22839 broad.mit.edu 37 20 35128025 35128025 + Missense_Mutation SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr20:35128025C>T ENST00000339266.5 + 7 2045 c.2045C>T c.(2044-2046)cCc>cTc p.P682L DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Missense_Mutation_p.P143L|DLGAP4_ENST00000401952.2_Intron|DLGAP4_ENST00000373907.2_Missense_Mutation_p.P682L|DLGAP4_ENST00000373913.3_Intron NM_001042486.2 NP_001035951.1 Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 682 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) AAAGAGGAGCCCAGTCCCGCT 0.532000 9 16 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178095969 178095969 + Silent SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr2:178095969G>A ENST00000397062.3 - 5 1916 c.1362C>T c.(1360-1362)ctC>ctT p.L454L NFE2L2_ENST00000464747.1_Silent_p.L438L|NFE2L2_ENST00000446151.2_Silent_p.L431L|NFE2L2_ENST00000397063.4_Silent_p.L438L NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 454 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) CATCTCTTGTGAGATGAGCCT 0.428000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 70 181 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138603675 138603675 + Missense_Mutation SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr7:138603675G>A ENST00000440172.1 - 2 745 c.697C>T c.(697-699)Cgg>Tgg p.R233W KIAA1549_ENST00000242365.4_Missense_Mutation_p.R183W|KIAA1549_ENST00000422774.1_Missense_Mutation_p.R233W NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 233 integral to membrane p.R233W(1)|p.R183W(1) KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 AAAGCTGACCGAAAGGTGTGG 0.493000 O BRAF pilocytic astrocytoma 29 96 0 0 1 0 0 KIF27 55582 broad.mit.edu 37 9 86506407 86506407 + Missense_Mutation SNP T T C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr9:86506407T>C ENST00000297814.2 - 6 1755 c.1612A>G c.(1612-1614)Ata>Gta p.I538V KIF27_ENST00000334204.2_Missense_Mutation_p.I538V|KIF27_ENST00000413982.1_Missense_Mutation_p.I538V NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 538 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 TGTTCTATTATTTTTTCATTC 0.303000 17 29 0 0 1 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378057 31378057 + Nonsense_Mutation SNP C C A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr7:31378057C>A ENST00000297142.3 - 2 1148 c.826G>T c.(826-828)Gaa>Taa p.E276* NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 276 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 AAGGTTTCTTCTTGCTTCAGG 0.483000 16 46 4.7546e-09 5.10166e-09 1 1 0 CPNE4 131034 broad.mit.edu 37 3 131415428 131415428 + Silent SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr3:131415428G>A ENST00000512055.1 - 9 2591 c.465C>T c.(463-465)gaC>gaT p.D155D CPNE4_ENST00000512332.1_Silent_p.D173D|CPNE4_ENST00000511604.1_Silent_p.D155D|CPNE4_ENST00000502818.1_Silent_p.D173D|CPNE4_ENST00000429747.1_Silent_p.D155D Q96A23 CPNE4_HUMAN copine IV 155 C2 2. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 GCTCAACATAGTCGTCATTGC 0.413000 31 90 0 0 1 0 0 NUPL1 9818 broad.mit.edu 37 13 25881995 25881995 + Silent SNP A A C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr13:25881995A>C ENST00000463407.1 + 2 302 c.159A>C c.(157-159)ccA>ccC p.P53P NUPL1_ENST00000381718.3_Silent_p.P53P|NUPL1_ENST00000381736.3_Silent_p.P53P|NUPL1_ENST00000466694.1_3'UTR Q9BVL2 NUPL1_HUMAN nucleoporin like 1 53 14 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1) 16 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) CTTCAACTCCAGCAACTACAT 0.428000 31 100 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 4 28 0 0 1 0 0 RAB11FIP3 9727 broad.mit.edu 37 16 538871 538871 + Missense_Mutation SNP C C A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr16:538871C>A ENST00000262305.4 + 5 1524 c.1136C>A c.(1135-1137)tCt>tAt p.S379Y RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.S83Y|RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.S379Y NM_014700.3 NP_055515.1 O75154 RFIP3_HUMAN RAB11 family interacting protein 3 (class II) 379 cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1) 12 Hepatocellular(16;0.0218) CATGGCCAGTCTGTCATCACG 0.597000 9 42 1.33987e-11 1.44824e-11 1 1 0 ITSN2 50618 broad.mit.edu 37 2 24533505 24533505 + Missense_Mutation SNP T T C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr2:24533505T>C ENST00000355123.4 - 6 852 c.409A>G c.(409-411)Ata>Gta p.I137V ITSN2_ENST00000406921.3_Missense_Mutation_p.I137V|ITSN2_ENST00000361999.3_Missense_Mutation_p.I137V NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 137 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AATGATGTTATAGGTGCAGCT 0.448000 19 51 0 0 1 0 0 TBC1D15 64786 broad.mit.edu 37 12 72312230 72312230 + Splice_Site SNP G G T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr12:72312230G>T ENST00000550746.1 + 15 1616 c.e15-1 TBC1D15_ENST00000319106.8_Splice_Site|TBC1D15_ENST00000393309.3_Splice_Site|TBC1D15_ENST00000548679.1_Splice_Site|TBC1D15_ENST00000485960.2_Splice_Site NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTTCTGCATAGAATCTCAGGA 0.333000 27 75 6.32553e-13 6.9392e-13 1 1 0 NLRP6 171389 broad.mit.edu 37 11 281034 281034 + Missense_Mutation SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr11:281034G>A ENST00000534750.1 + 4 1505 c.1300G>A c.(1300-1302)Gac>Aac p.D434N NLRP6_ENST00000312165.5_Missense_Mutation_p.D434N NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 434 NACHT. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) TCCGGTAGCCGACGGGCCCCG 0.672000 15 128 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577017 7577017 + Splice_Site SNP A A C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr17:7577017A>C ENST00000420246.2 - 8 1052 c.e8+1 TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.?(6)|p.A307fs*34(1)|p.L308fs*31(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTGCTTGCTTACCTCGCTTAG 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 44 26 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31091550 31091550 + Missense_Mutation SNP G G C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr16:31091550G>C ENST00000394979.2 + 1 4328 c.3905G>C c.(3904-3906)gGg>gCg p.G1302A ZNF646_ENST00000300850.5_Missense_Mutation_p.G1302A O15015 ZN646_HUMAN zinc finger protein 646 1302 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 TTCCGCTGTGGGCAGTGCGGG 0.701000 16 21 0 0 1 0 0 LRP12 29967 broad.mit.edu 37 8 105521276 105521276 + Missense_Mutation SNP G G C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr8:105521276G>C ENST00000276654.5 - 3 271 c.163C>G c.(163-165)Cga>Gga p.R55G LRP12_ENST00000424843.2_Missense_Mutation_p.R36G NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 55 CUB 1. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding p.R55G(1) NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTTGGTGCTCGTATTTGCTCT 0.408000 31 113 0 0 1 0 0 XAB2 56949 broad.mit.edu 37 19 7690779 7690779 + Missense_Mutation SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr19:7690779C>T ENST00000358368.4 - 6 846 c.809G>A c.(808-810)gGc>gAc p.G270D XAB2_ENST00000534844.1_Missense_Mutation_p.G267D NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 270 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 CTCGAAATGGCCGCTGCGGAT 0.632000 Direct reversal of damage;Nucleotide excision repair (NER) 4 52 0 0 1 0 0 SCNN1B 6338 broad.mit.edu 37 16 23364163 23364163 + Missense_Mutation SNP T T C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr16:23364163T>C ENST00000343070.2 + 3 529 c.353T>C c.(352-354)cTg>cCg p.L118P SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000568085.1_Missense_Mutation_p.L118P|SCNN1B_ENST00000568923.1_Missense_Mutation_p.L118P|SCNN1B_ENST00000307331.5_Missense_Mutation_p.L163P NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 118 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) CTGGATGAGCTGATGGAAGCT 0.517000 26 57 0 0 1 0 0 CES5A 221223 broad.mit.edu 37 16 55903523 55903523 + Splice_Site SNP G G A rs147903375 TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr16:55903523G>A ENST00000521992.1 - 5 783 c.638_splice c.e5+1 p.T213_splice CES5A_ENST00000290567.9_Splice_Site_p.T184_splice|CES5A_ENST00000319165.9_Splice_Site_p.T184_splice|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000520435.1_Splice_Site_p.T154_splice|CES5A_ENST00000518005.1_Splice_Site_p.T78_splice NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 184 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 AGAGACTCACGTGAAGAAACC 0.557000 22 66 0 0 1 0 0 PLEKHO1 51177 broad.mit.edu 37 1 150128298 150128298 + Silent SNP G G C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr1:150128298G>C ENST00000369124.4 + 3 494 c.216G>C c.(214-216)ctG>ctC p.L72L PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000025469.6_Silent_p.L72L|PLEKHO1_ENST00000479194.1_3'UTR NM_016274.4 NP_057358.2 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O member 1 72 PH. cytoplasm|nucleus|plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TATTTGACCTGAGTGACTATG 0.458000 51 128 0 0 1 0 0 TMEM215 401498 broad.mit.edu 37 9 32784684 32784684 + Missense_Mutation SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr9:32784684C>T ENST00000342743.5 + 2 868 c.503C>T c.(502-504)tCg>tTg p.S168L NM_212558.2 NP_997723.2 Q68D42 TM215_HUMAN transmembrane protein 215 168 integral to membrane endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2) 12 TACTGCCCCTCGGGCAGTTCC 0.587000 25 31 0 0 1 0 0 C12orf36 283422 broad.mit.edu 37 12 13529204 13529204 + Missense_Mutation SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr12:13529204C>T ENST00000318426.2 - 2 353 c.136G>A c.(136-138)Gat>Aat p.D46N C12orf36_ENST00000527705.2_Missense_Mutation_p.D46N|C12orf36_ENST00000539026.1_Missense_Mutation_p.D46N|C12orf36_ENST00000532841.1_Missense_Mutation_p.D46N|C12orf36_ENST00000531049.1_5'UTR chromosome 12 open reading frame 36 lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) AACAACTGatctgggtcagcc 0.522000 19 40 0 0 1 0 0 FIGN 55137 broad.mit.edu 37 2 164467739 164467739 + Missense_Mutation SNP C C G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr2:164467739C>G ENST00000333129.3 - 3 917 c.603G>C c.(601-603)caG>caC p.Q201H FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 201 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 CAGGTGCTGGCTGGCTACTAT 0.552000 15 36 0 0 1 0 0 PKNOX2 63876 broad.mit.edu 37 11 125237806 125237806 + Missense_Mutation SNP C C A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr11:125237806C>A ENST00000298282.9 + 5 423 c.152C>A c.(151-153)gCt>gAt p.A51D PKNOX2_ENST00000542175.1_Intron|PKNOX2_ENST00000530517.1_3'UTR NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 51 nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) CCCTCAGCTGCTGCCAGCACA 0.622000 18 22 2.94398e-08 3.11342e-08 1 1 0 IL1RAP 3556 broad.mit.edu 37 3 190338140 190338140 + Nonsense_Mutation SNP C C G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr3:190338140C>G ENST00000412504.2 + 5 866 c.614C>G c.(613-615)tCa>tGa p.S205* IL1RAP_ENST00000443369.2_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000447382.1_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000422940.1_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000434491.1_Nonsense_Mutation_p.S64*|IL1RAP_ENST00000317757.3_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000072516.3_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000439062.1_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000422485.1_Nonsense_Mutation_p.S205* Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein 205 Ig-like C2-type 2. inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) GCCTTAATTTCAAATAATGGA 0.318000 39 67 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144944616 144944616 + Missense_Mutation SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr8:144944616G>A ENST00000525985.1 - 2 2877 c.2806C>T c.(2806-2808)Cgg>Tgg p.R936W P58107 EPIPL_HUMAN epiplakin 1 936 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGCAGCAGCCGCACACCGCCC 0.711000 3 29 0 0 1 0 0 BTBD10 84280 broad.mit.edu 37 11 13466583 13466583 + Missense_Mutation SNP T T C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr11:13466583T>C ENST00000278174.5 - 2 334 c.89A>G c.(88-90)tAt>tGt p.Y30C BTBD10_ENST00000528120.1_Intron NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 30 nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) TGAATGTTTATAAAGTTTACG 0.408000 31 42 0 0 1 0 0 TYW1 55253 broad.mit.edu 37 7 66660159 66660159 + Silent SNP C C T rs142524777 byFrequency TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr7:66660159C>T ENST00000359626.5 + 15 1976 c.1812C>T c.(1810-1812)ggC>ggT p.G604G NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 604 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity p.G604G(1) breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) TTCCACAGGGCGTTACCTACT 0.493000 23 67 0 0 1 0 0 USP36 57602 broad.mit.edu 37 17 76808947 76808947 + Missense_Mutation SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr17:76808947C>T ENST00000312010.6 - 13 1726 c.1402G>A c.(1402-1404)Gga>Aga p.G468R USP36_ENST00000588467.1_5'UTR|USP36_ENST00000542802.2_Missense_Mutation_p.G468R|USP36_ENST00000449938.2_Missense_Mutation_p.G168R NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 468 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) AATACCTTTCCAGTCAGTGGG 0.537000 16 30 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10132224 10132224 + Missense_Mutation SNP C C G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr1:10132224C>G ENST00000343090.6 + 2 238 c.163C>G c.(163-165)Ctc>Gtc p.L55V UBE4B_ENST00000253251.8_Missense_Mutation_p.L55V|UBE4B_ENST00000377157.3_5'UTR|UBE4B_ENST00000377153.1_Missense_Mutation_p.L55V NM_001105562.2 NP_001099032.1 O95155 UBE4B_HUMAN ubiquitination factor E4B 55 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) GAGTCTTGGTCTCAATGTCCA 0.552000 7 46 0 0 1 0 0 C11orf63 79864 broad.mit.edu 37 11 122830103 122830103 + Missense_Mutation SNP G G A rs146523567 TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr11:122830103G>A ENST00000227349.2 + 9 2584 c.2287G>A c.(2287-2289)Gaa>Aaa p.E763K C11orf63_ENST00000531316.1_Missense_Mutation_p.E763K NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 763 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) GAACAGACACGAAAGGGAAAA 0.418000 3 43 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55533698 55533698 + Missense_Mutation SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr8:55533698C>T ENST00000220676.1 + 2 320 c.172C>T c.(172-174)Cgc>Tgc p.R58C NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 58 Doublecortin 1. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGTCAACCCTCGCTCCTTTAA 0.567000 33 133 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19451155 19451155 + Silent SNP A A G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr1:19451155A>G ENST00000375267.2 - 65 9471 c.9468T>C c.(9466-9468)taT>taC p.Y3156Y UBR4_ENST00000375217.2_Silent_p.Y3149Y|UBR4_ENST00000375226.2_Silent_p.Y3132Y|UBR4_ENST00000375254.3_Silent_p.Y3156Y Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3156 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GAAGCTGAGTATAGGCCTCAA 0.433000 25 82 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36976406 36976406 + Missense_Mutation SNP A A G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr5:36976406A>G ENST00000282516.8 + 9 1896 c.1397A>G c.(1396-1398)tAt>tGt p.Y466C NIPBL_ENST00000448238.2_Missense_Mutation_p.Y466C|NIPBL_ENST00000504430.1_3'UTR NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 466 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GGACCTATATATGATGAAGTG 0.408000 30 66 0 0 1 0 0 HRH3 11255 broad.mit.edu 37 20 60794928 60794928 + Missense_Mutation SNP C C A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr20:60794928C>A ENST00000340177.5 - 1 383 c.99G>T c.(97-99)tgG>tgT p.W33C HRH3_ENST00000317393.6_Missense_Mutation_p.W33C NM_007232.2 NP_009163.2 Q9Y5N1 HRH3_HUMAN histamine receptor H3 33 G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) GCACCGCGGTCCAGGCTGCCG 0.776000 7 5 2.7689e-08 2.94948e-08 1 1 0 LRRIQ3 127255 broad.mit.edu 37 1 74507187 74507187 + Silent SNP T T C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr1:74507187T>C ENST00000354431.4 - 7 1619 c.1428A>G c.(1426-1428)aaA>aaG p.K476K LRRIQ3_ENST00000395089.1_Silent_p.K476K NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 476 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 GAATTGTCTCTTTATTTTCTT 0.338000 36 140 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41553243 41553243 + Missense_Mutation SNP A A G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr22:41553243A>G ENST00000263253.7 + 18 4551 c.3332A>G c.(3331-3333)tAt>tGt p.Y1111C NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1111 Bromo. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 ACTGGACAGTATCAGGAGCCC 0.398000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 24 69 0 0 1 0 0 TBC1D3P5 440419 broad.mit.edu 37 17 25748794 25748794 + RNA SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr17:25748794C>T ENST00000586223.1 + 0 695 NR_033892.1 GGACAGGCACCCATGGCTGTG 0.587000 6 20 0 0 1 0 0 LYZL2 119180 broad.mit.edu 37 10 30915144 30915144 + Missense_Mutation SNP G G A rs146282381 TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr10:30915144G>A ENST00000375318.2 - 3 382 c.326C>T c.(325-327)aCg>aTg p.T109M NM_183058.2 NP_898881.2 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 63 cell wall macromolecule catabolic process extracellular region lysozyme activity NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1) 19 Prostate(175;0.151) ATCCAGGACCGTCTGGGCTGT 0.572000 21 57 0 0 1 0 0 OR51G1 79324 broad.mit.edu 37 11 4944789 4944789 + Missense_Mutation SNP A A G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr11:4944789A>G ENST00000321961.2 - 1 848 c.781T>C c.(781-783)Tct>Cct p.S261P MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCACAAGAGACAAGCCAATC 0.522000 6 57 0 0 1 0 0 IRGQ 126298 broad.mit.edu 37 19 44097187 44097187 + Missense_Mutation SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr19:44097187G>A ENST00000422989.1 - 3 1018 c.863C>T c.(862-864)gCg>gTg p.A288V IRGQ_ENST00000602269.1_Missense_Mutation_p.A288V|L34079.2_ENST00000594374.1_Missense_Mutation_p.A1V NM_001007561.2 NP_001007562.1 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 288 Poly-Ala. protein binding endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) GGCGGCGGCCGCGGTGGTGGC 0.697000 9 23 0 0 1 0 0 GLYATL2 219970 broad.mit.edu 37 11 58602255 58602255 + Missense_Mutation SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr11:58602255C>T ENST00000287275.1 - 6 922 c.532G>A c.(532-534)Gaa>Aaa p.E178K GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.E178K NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 178 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) GCCCAGTGTTCATTCACAAGA 0.413000 16 15 0 0 1 0 0 TMEM79 84283 broad.mit.edu 37 1 156255506 156255506 + Silent SNP G G T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr1:156255506G>T ENST00000405535.2 + 2 660 c.489G>T c.(487-489)cgG>cgT p.R163R TMEM79_ENST00000295694.5_Silent_p.R163R|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Intron NM_032323.2 NP_115699.1 Q9BSE2 TMM79_HUMAN transmembrane protein 79 163 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1) 21 Hepatocellular(266;0.158) TGCCCCCCCGGGTCACCCACC 0.657000 10 36 0.00829132 0.00834811 1 1 0 MYH2 4620 broad.mit.edu 37 17 10436835 10436835 + Silent SNP C C T rs79757188 byFrequency TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr17:10436835C>T ENST00000245503.5 - 20 2679 c.2295G>A c.(2293-2295)ggG>ggA p.G765G CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.G765G|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 765 Actin-binding (By similarity).|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 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 CCTTGGTGTGCCCAAATTTAT 0.423000 97 77 0 0 1 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40231714 40231714 + Missense_Mutation SNP G G T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr15:40231714G>T ENST00000263791.5 + 2 196 c.153G>T c.(151-153)gaG>gaT p.E51D EIF2AK4_ENST00000560648.1_Missense_Mutation_p.E51D|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E51D|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.E51D NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 51 RWD. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) AGGTCAAAGAGCCCCCTGAAA 0.338000 22 52 8.04996e-18 8.96473e-18 1 1 0 NEDD4 4734 broad.mit.edu 37 15 56140620 56140620 + Silent SNP T T G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr15:56140620T>G ENST00000508342.1 - 13 3048 c.2749A>C c.(2749-2751)Aga>Cga p.R917R NEDD4_ENST00000435532.3_Silent_p.R498R|NEDD4_ENST00000506154.1_Silent_p.R901R|NEDD4_ENST00000338963.2_Silent_p.R845R P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 917 Mediates interaction with TNIK (By similarity).|WW 4. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) CATTGTGTTCTTTTTATATCT 0.383000 10 131 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1271400 1271400 + Silent SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr11:1271400G>A ENST00000447027.1 + 31 13357 c.13299G>A c.(13297-13299)acG>acA p.T4433T MUC5B_ENST00000529681.1_Silent_p.T4430T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4430 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CAGCCACTACGACTGCGTCCA 0.667000 127 159 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72399991 72399991 + Missense_Mutation SNP C C A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr4:72399991C>A ENST00000340595.3 + 15 2392 c.2196C>A c.(2194-2196)aaC>aaA p.N732K SLC4A4_ENST00000425175.1_Missense_Mutation_p.N776K|SLC4A4_ENST00000351898.6_Missense_Mutation_p.N776K|SLC4A4_ENST00000264485.5_Missense_Mutation_p.N776K NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 776 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TTGGAGAAAACCCCTGGTGGG 0.418000 33 68 1.61788e-16 1.78818e-16 1 1 0 VPS13B 157680 broad.mit.edu 37 8 100443876 100443876 + Missense_Mutation SNP A A T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr8:100443876A>T ENST00000395996.1 + 22 3305 c.3194A>T c.(3193-3195)aAg>aTg p.K1065M VPS13B_ENST00000358544.2_Missense_Mutation_p.K1065M|VPS13B_ENST00000357162.2_Missense_Mutation_p.K1065M Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1065 protein transport 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) AATGCAGTGAAGCATCTCACA 0.303000 15 64 0 0 1 0 0 EPHB3 2049 broad.mit.edu 37 3 184296225 184296225 + Missense_Mutation SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr3:184296225C>T ENST00000330394.2 + 9 2224 c.1772C>T c.(1771-1773)tCg>tTg p.S591L EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 591 integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GGCTCTGATTCGGAGTACACG 0.627000 29 68 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53560975 53560975 + Missense_Mutation SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chrX:53560975G>A ENST00000342160.3 - 82 13472 c.13015C>T c.(13015-13017)Cac>Tac p.H4339Y HUWE1_ENST00000262854.6_Missense_Mutation_p.H4339Y Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 4339 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TACCATGTGTGAGCTGAAGGC 0.483000 24 39 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511937 195511937 + Missense_Mutation SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr3:195511937C>T ENST00000463781.3 - 2 6973 c.6514G>A c.(6514-6516)Ggt>Agt p.G2172S MUC4_ENST00000475231.1_Missense_Mutation_p.G2172S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 951 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTGGCGTGACCTGTGGATGCT 0.577000 4 4 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75283661 75283661 + Missense_Mutation SNP A A G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr14:75283661A>G ENST00000325680.7 + 14 5837 c.5713A>G c.(5713-5715)Atg>Gtg p.M1905V YLPM1_ENST00000552421.1_Missense_Mutation_p.M1199V|YLPM1_ENST00000238571.3_Missense_Mutation_p.M1670V NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1710 Involved in interaction with PPP1CA (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) TGAAGCTGAGATGGAGGAGAC 0.398000 9 36 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33588792 33588792 + Splice_Site SNP C C T rs147239130 by1000genomes TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr20:33588792C>T ENST00000262873.7 + 39 5524 c.5430_splice c.e39-1 p.A1811_splice NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1769 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CCCCAACAGGCGGCCATGATG 0.632000 29 96 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72234072 72234072 + Silent SNP A A C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr8:72234072A>C ENST00000340726.3 - 6 954 c.315T>G c.(313-315)acT>acG p.T105T EYA1_ENST00000388741.2_Silent_p.T71T|EYA1_ENST00000419131.1_Silent_p.T105T|EYA1_ENST00000388740.3_Silent_p.T72T|EYA1_ENST00000388743.2_Silent_p.T104T|EYA1_ENST00000388742.4_Silent_p.T105T|EYA1_ENST00000303824.7_Silent_p.T104T NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 105 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) ATGCAGCCATAGTTTGTGAGG 0.463000 37 109 0 0 1 0 0 OPRK1 4986 broad.mit.edu 37 8 54142384 54142384 + Missense_Mutation SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr8:54142384C>T ENST00000265572.3 - 4 913 c.616G>A c.(616-618)Gat>Aat p.D206N RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.D117N|OPRK1_ENST00000520287.1_Missense_Mutation_p.D206N NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 206 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) TCAATGACATCGACGTCTGGA 0.423000 9 45 0 0 1 0 0 GPAM 57678 broad.mit.edu 37 10 113921438 113921438 + Missense_Mutation SNP T T C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr10:113921438T>C ENST00000348367.4 - 15 1678 c.1481A>G c.(1480-1482)tAc>tGc p.Y494C GPAM_ENST00000369425.1_Missense_Mutation_p.Y494C|GPAM_ENST00000423155.1_Missense_Mutation_p.Y494C Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 494 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) CCTGTGTCTGTAGAGGAGCAG 0.463000 14 32 0 0 1 0 0 COCH 1690 broad.mit.edu 37 14 31355514 31355514 + Silent SNP T T C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr14:31355514T>C ENST00000460581.2 + 9 1683 c.1137T>C c.(1135-1137)gaT>gaC p.D379D RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000396618.3_Silent_p.D491D|COCH_ENST00000475087.1_Silent_p.D491D|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000216361.4_Silent_p.D491D|COCH_ENST00000382493.4_Silent_p.D342D O43405 COCH_HUMAN cochlin 491 VWFA 2. sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) CTGCACATGATGCAGGTAAGG 0.408000 39 51 0 0 1 0 0 SYDE1 85360 broad.mit.edu 37 19 15220102 15220102 + Silent SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr19:15220102C>T ENST00000342784.2 + 2 355 c.324C>T c.(322-324)ggC>ggT p.G108G SYDE1_ENST00000600440.1_Silent_p.G41G|SYDE1_ENST00000600252.1_5'UTR NM_033025.4 NP_149014.3 Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 (C. elegans) 108 Pro-rich. activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1) 17 AGCCCGCCGGCGAGATCTGGT 0.692000 13 13 0 0 1 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95457426 95457426 + Silent SNP T T C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr7:95457426T>C ENST00000324972.6 + 5 616 c.423T>C c.(421-423)ctT>ctC p.L141L DYNC1I1_ENST00000359388.4_Intron|DYNC1I1_ENST00000457059.1_Silent_p.L124L|DYNC1I1_ENST00000447467.2_Silent_p.L124L|DYNC1I1_ENST00000437599.1_Intron|DYNC1I1_ENST00000537881.1_Intron NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 141 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) ACTCAGAACTTGGGTATATGT 0.438000 64 141 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48584569 48584569 + Nonsense_Mutation SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr18:48584569C>T ENST00000342988.3 + 6 1280 c.742C>T c.(742-744)Cag>Tag p.Q248* SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q248*|SMAD4_ENST00000588745.1_Intron NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 248 BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2)|p.Q248*(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TCAGCCAGGACAGCAGCAGAA 0.438000 18 29 0 0 1 0 0 HLA-C 3107 broad.mit.edu 37 6 31238165 31238165 + Silent SNP C C A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr6:31238165C>A ENST00000383329.3 - 4 731 c.717G>T c.(715-717)ctG>ctT p.L239L HLA-C_ENST00000376228.5_Silent_p.L239L Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 239 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 GCTGCCAGGTCAGTGTGATCT 0.637000 7 23 1.56452e-12 1.70359e-12 1 1 0 KIF3C 3797 broad.mit.edu 37 2 26204611 26204611 + Missense_Mutation SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr2:26204611G>A ENST00000264712.3 - 1 755 c.176C>T c.(175-177)aCc>aTc p.T59I KIF3C_ENST00000405914.1_Missense_Mutation_p.T59I NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 59 Kinesin-motor. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCGTCAAAGGTGAAGGTCTT 0.632000 27 72 0 0 1 0 0 CDK5R1 8851 broad.mit.edu 37 17 30814693 30814693 + Missense_Mutation SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr17:30814693G>A ENST00000313401.3 + 2 744 c.55G>A c.(55-57)Gat>Aat p.D19N NM_003885.2 NP_003876.1 Q15078 CD5R1_HUMAN cyclin-dependent kinase 5, regulatory subunit 1 (p35) 19 axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane cadherin binding|calcium ion binding|protein kinase binding cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.0938) GCTGTTTGAGGATGGCGCGGC 0.672000 11 37 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138943235 138943235 + Splice_Site SNP A A G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr7:138943235A>G ENST00000288561.8 + 4 665 c.414_splice c.e4-1 p.Y139_splice UBN2_ENST00000473989.2_Splice_Site_p.Y222_splice NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 222 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 TTAATCTAGTATGATGAATTA 0.358000 33 77 0 0 1 0 0 NCOA4 8031 broad.mit.edu 37 10 51580580 51580580 + Missense_Mutation SNP A A G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr10:51580580A>G ENST00000452682.1 + 4 466 c.214A>G c.(214-216)Ata>Gta p.I72V NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Missense_Mutation_p.I56V|NCOA4_ENST00000374087.4_Missense_Mutation_p.I56V|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000374082.1_Missense_Mutation_p.I56V|NCOA4_ENST00000438493.1_Missense_Mutation_p.I72V|NCOA4_ENST00000430396.2_5'UTR|NCOA4_ENST00000443446.1_Missense_Mutation_p.I56V NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 56 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 TCACAGTTGCATAAGCCGTCA 0.423000 T RET papillary thyroid 39 84 0 0 1 0 0 RC3H2 54542 broad.mit.edu 37 9 125642364 125642364 + Missense_Mutation SNP A A G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr9:125642364A>G ENST00000373670.1 - 6 1601 c.1001T>C c.(1000-1002)tTg>tCg p.L334S RC3H2_ENST00000357244.2_Missense_Mutation_p.L334S|RC3H2_ENST00000373665.2_Missense_Mutation_p.L334S|RC3H2_ENST00000335387.5_Missense_Mutation_p.L334S|RC3H2_ENST00000423239.2_Missense_Mutation_p.L334S Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 334 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 AACAATTGTCAATTCCTGGAC 0.388000 58 84 0 0 1 0 0 DVL1 1855 broad.mit.edu 37 1 1271635 1271635 + Missense_Mutation SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr1:1271635C>T ENST00000378888.5 - 15 2259 c.1975G>A c.(1975-1977)Ggg>Agg p.G659R DVL1_ENST00000378891.5_Missense_Mutation_p.G634R O14640 DVL1_HUMAN dishevelled segment polarity protein 1 659 canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GGGGGTCCCCCGGGTGGCCCC 0.716000 4 6 0 0 1 0 0 TARBP1 6894 broad.mit.edu 37 1 234601437 234601437 + Missense_Mutation SNP T T A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr1:234601437T>A ENST00000040877.1 - 5 1265 c.1266A>T c.(1264-1266)ttA>ttT p.L422F NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 422 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) GCGCATCCATTAATGGTCCaa 0.303000 5 26 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323756 79323756 + Missense_Mutation SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr9:79323756G>A ENST00000428286.1 - 8 3557 c.2357C>T c.(2356-2358)gCg>gTg p.A786V PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1145V Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1145 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GGGGATTGCCGCACCCCCACT 0.522000 4 129 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39500156 39500156 + Silent SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr7:39500156G>A ENST00000518318.2 + 9 1455 c.1413G>A c.(1411-1413)acG>acA p.T471T POU6F2_ENST00000559001.1_Silent_p.T416T|POU6F2_ENST00000403058.1_Silent_p.T471T P78424 PO6F2_HUMAN POU class 6 homeobox 2 471 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 ATCCTCAAACGGCAGCGGGTG 0.468000 6 25 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50157646 50157646 + Silent SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr19:50157646G>A ENST00000360565.3 + 8 3481 c.3357G>A c.(3355-3357)gcG>gcA p.A1119A NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 1119 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) CCAACCTGGCGAGCCGAGCGA 0.602000 13 43 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576265 33576265 + Missense_Mutation SNP T T A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr5:33576265T>A ENST00000504830.1 - 19 4201 c.3866A>T c.(3865-3867)gAt>gTt p.D1289V ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D1204V NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1289 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 ACTTGTTGCATCCTCCTCAGT 0.488000 HNSCC(64;0.19) 94 212 0 0 1 0 0 IHH 3549 broad.mit.edu 37 2 219925177 219925177 + Silent SNP G G T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr2:219925177G>T ENST00000295731.5 - 1 12 c.13C>A c.(13-15)Cgg>Agg p.R5R NM_002181.3 NP_002172.2 Q14623 IHH_HUMAN indian hedgehog 5 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCCGGAGCCGGGCGGGAGAC 0.776000 9 7 1.12685e-05 1.15837e-05 1 1 0 KIAA1161 57462 broad.mit.edu 37 9 34371652 34371652 + Silent SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr9:34371652G>A ENST00000297625.7 - 2 1413 c.1188C>T c.(1186-1188)ggC>ggT p.G396G NM_020702.3 NP_065753.2 Q6NSJ0 K1161_HUMAN KIAA1161 430 carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CTAGCACCGCGCCGATGCCGT 0.677000 10 7 0 0 1 0 0 C1GALT1C1 29071 broad.mit.edu 37 X 119760995 119760995 + Silent SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chrX:119760995C>T ENST00000304661.5 - 2 265 c.27G>A c.(25-27)ttG>ttA p.L9L C1GALT1C1_ENST00000371313.2_Silent_p.L9L NM_001011551.2 NP_001011551.1 Q96EU7 C1GLC_HUMAN C1GALT1-specific chaperone 1 9 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 11 TCACACCCTTCAAAAAGGAGC 0.343000 36 117 0 0 1 0 0 TP53I3 9540 broad.mit.edu 37 2 24305861 24305861 + Silent SNP A A T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr2:24305861A>T ENST00000238721.4 - 2 1154 c.300T>A c.(298-300)acT>acA p.T100T TP53I3_ENST00000417886.1_Intron|TP53I3_ENST00000335934.4_Silent_p.T100T|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000407482.1_Silent_p.T100T|TP53I3_ENST00000313482.4_Silent_p.T100T NM_004881.4 NP_004872.2 Q53FA7 QORX_HUMAN tumor protein p53 inducible protein 3 100 induction of apoptosis by oxidative stress|NADP metabolic process NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTCGGGGACAGTGACGTACT 0.647000 11 37 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160047449 160047449 + Missense_Mutation SNP G G T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr5:160047449G>T ENST00000327245.5 - 15 3167 c.2321C>A c.(2320-2322)tCt>tAt p.S774Y CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 774 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CACAACCACAGACATTCTCTT 0.602000 6 23 3.59834e-05 3.64797e-05 1 1 0 MORC1 27136 broad.mit.edu 37 3 108819312 108819312 + Missense_Mutation SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr3:108819312C>T ENST00000232603.5 - 5 348 c.266G>A c.(265-267)cGg>cAg p.R89Q MORC1_ENST00000483760.1_Missense_Mutation_p.R89Q NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 89 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 GGTTGACAGCCGTTTTTTGGA 0.398000 42 99 0 0 1 0 0 MAP2K2 5605 broad.mit.edu 37 19 4101229 4101229 + Missense_Mutation SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr19:4101229C>T ENST00000262948.5 - 5 831 c.578G>A c.(577-579)cGa>cAa p.R193Q MAP2K2_ENST00000394867.4_Missense_Mutation_p.R96Q|MAP2K2_ENST00000599345.1_5'UTR NM_030662.3 NP_109587.1 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 193 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) GGCCTTACCTCGGTGCATGAT 0.697000 3 15 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57176557 57176557 + Missense_Mutation SNP G G T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr19:57176557G>T ENST00000537055.2 - 2 241 c.10C>A c.(10-12)Ctc>Atc p.L4I NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 ACGCTCAAGAGTCCCTCCATC 0.502000 12 33 6.31663e-08 6.63246e-08 1 1 0 ACSM2A 123876 broad.mit.edu 37 16 20497952 20497952 + Silent SNP G G A rs1054980 TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr16:20497952G>A ENST00000573854.1 + 14 1800 c.1686G>A c.(1684-1686)aaG>aaA p.K562K ACSM2A_ENST00000536134.1_Silent_p.K334K|ACSM2A_ENST00000575690.1_Silent_p.K562K|ACSM2A_ENST00000417235.2_Silent_p.K483K|ACSM2A_ENST00000396104.2_Silent_p.K562K|ACSM2A_ENST00000219054.6_Silent_p.K562K NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 562 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 AACGAGCCAAGCTTCGAGACA 0.468000 35 196 0 0 1 0 0 ADAT3 113179 broad.mit.edu 37 19 1912891 1912891 + Missense_Mutation SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr19:1912891G>A ENST00000329478.2 + 2 1065 c.845G>A c.(844-846)cGt>cAt p.R282H ADAT3_ENST00000602400.1_Missense_Mutation_p.R266H|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000316097.8_Intron|SCAMP4_ENST00000409472.1_Intron Q96EY9 ADAT3_HUMAN adenosine deaminase, tRNA-specific 3 266 tRNA processing hydrolase activity|zinc ion binding breast(1)|kidney(3)|pancreas(1)|skin(2) 7 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCGCCGTGCGTAAACTGGAC 0.731000 17 24 0 0 1 0 0 LCN8 138307 broad.mit.edu 37 9 139649881 139649881 + Missense_Mutation SNP C C T rs138766179 TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr9:139649881C>T ENST00000371688.3 - 4 609 c.314G>A c.(313-315)cGc>cAc p.R105H LCN8_ENST00000482893.1_5'UTR NM_178469.3 NP_848564.2 Q6JVE9 LCN8_HUMAN lipocalin 8 128 transport extracellular region binding endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1) 10 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05) CTTGAGGACGCGAAAGTTCCT 0.657000 8 15 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8203164 8203164 + Silent SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr19:8203164G>A ENST00000600128.1 - 10 1476 c.1062C>T c.(1060-1062)ccC>ccT p.P354P FBN3_ENST00000601739.1_Silent_p.P354P|FBN3_ENST00000270509.2_Silent_p.P354P Q75N90 FBN3_HUMAN fibrillin 3 354 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CAGGGTGGCCGGGTAGCAGCG 0.672000 8 11 0 0 1 0 0 CCNI 10983 broad.mit.edu 37 4 77977406 77977406 + Missense_Mutation SNP T T C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr4:77977406T>C ENST00000237654.4 - 4 890 c.314A>G c.(313-315)gAt>gGt p.D105G CCNI_ENST00000504697.1_5'UTR|CCNI_ENST00000537948.1_Missense_Mutation_p.D91G NM_006835.2 NP_006826.1 Q14094 CCNI_HUMAN cyclin I 105 spermatogenesis NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 TATTACCTCATCTTCCTCAAC 0.333000 18 62 0 0 1 0 0 DDX27 55661 broad.mit.edu 37 20 47841505 47841505 + Missense_Mutation SNP A A G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr20:47841505A>G ENST00000371764.4 + 5 592 c.583A>G c.(583-585)Aag>Gag p.K195E DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 195 Asp/Glu/Lys-rich. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AAAGGATCGGAAGAAGAAGAA 0.463000 26 45 0 0 1 0 0 MTMR8 55613 broad.mit.edu 37 X 63557245 63557245 + Nonsense_Mutation SNP A A T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chrX:63557245A>T ENST00000374852.3 - 9 1071 c.1004T>A c.(1003-1005)tTa>tAa p.L335* MTMR8_ENST00000453546.1_Nonsense_Mutation_p.L335*|MTMR8_ENST00000478487.1_5'UTR NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 335 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 ACAATGGACTAAGACACTGGC 0.453000 13 48 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20497947 20497947 + Missense_Mutation SNP G G A rs1054977 TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr16:20497947G>A ENST00000573854.1 + 14 1795 c.1681G>A c.(1681-1683)Gcc>Acc p.A561T ACSM2A_ENST00000536134.1_Missense_Mutation_p.A333T|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A561T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A482T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A561T|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A561T NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 561 A -> T (in dbSNP:rs1054977). fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 AATTCAACGAGCCAAGCTTCG 0.473000 34 195 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1031902 1031902 + Silent SNP G G C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr11:1031902G>C ENST00000421673.2 - 3 317 c.267C>G c.(265-267)ggC>ggG p.G89G NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 89 VWFD 1. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCCCGTCTGGGCCTCGCCGCA 0.622000 4 47 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37329378 37329378 + Missense_Mutation SNP T T C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr5:37329378T>C ENST00000231498.3 - 16 1930 c.1727A>G c.(1726-1728)tAt>tGt p.Y576C NUP155_ENST00000513532.1_Missense_Mutation_p.Y576C|NUP155_ENST00000381843.2_Missense_Mutation_p.Y517C NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 576 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTCACCACCATACCTATTTTT 0.398000 15 39 0 0 1 0 0 TRIM46 80128 broad.mit.edu 37 1 155152405 155152405 + Missense_Mutation SNP C C A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr1:155152405C>A ENST00000368382.1 + 8 1651 c.1514C>A c.(1513-1515)gCa>gAa p.A505E TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368385.4_Missense_Mutation_p.A528E|TRIM46_ENST00000334634.4_Missense_Mutation_p.A528E|TRIM46_ENST00000368383.3_Missense_Mutation_p.A528E|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.A402E|TRIM46_ENST00000543729.1_3'UTR NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4 NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3 Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 528 Fibronectin type-III. intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ACGCCCCCGGCACCTGGTGAG 0.647000 8 18 1.12685e-05 1.15837e-05 1 1 0 ELMO3 79767 broad.mit.edu 37 16 67237408 67237408 + Silent SNP T T C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr16:67237408T>C ENST00000393997.2 + 19 2088 c.2031T>C c.(2029-2031)taT>taC p.Y677Y ELMO3_ENST00000477898.1_Silent_p.Y511Y|ELMO3_ENST00000360833.1_Silent_p.Y660Y NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 624 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) AGGACCTCTATGAGTTGGCCT 0.637000 13 35 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113246683 113246683 + Missense_Mutation SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr8:113246683G>A ENST00000297405.5 - 68 10895 c.10651C>T c.(10651-10653)Cgc>Tgc p.R3551C CSMD3_ENST00000343508.3_Missense_Mutation_p.R3511C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3382C|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3481C NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3551 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AACATTAGGCGAGCTTCCTGG 0.328000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 80 97 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22191370 22191370 + Missense_Mutation SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr1:22191370C>T ENST00000374695.3 - 36 4671 c.4592G>A c.(4591-4593)cGc>cAc p.R1531H NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 1531 Laminin EGF-like 9; second part. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TGGCGGGCAGCGGCACTCCTC 0.682000 4 13 0 0 1 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67318814 67318814 + Missense_Mutation SNP C C T rs138070673 byFrequency TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr16:67318814C>T ENST00000360461.5 + 12 4426 c.1891C>T c.(1891-1893)Cgg>Tgg p.R631W PLEKHG4_ENST00000379344.3_Missense_Mutation_p.R631W|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.R550W|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.R631W NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 631 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.R631W(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) GGCCTGGGCGCGGTGCCAGGA 0.667000 8 22 0 0 1 0 0 RNF111 54778 broad.mit.edu 37 15 59359272 59359272 + Missense_Mutation SNP A A G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr15:59359272A>G ENST00000348370.4 + 6 2109 c.1676A>G c.(1675-1677)tAt>tGt p.Y559C RNF111_ENST00000559209.1_Missense_Mutation_p.Y559C|RNF111_ENST00000561186.1_Missense_Mutation_p.Y559C|RNF111_ENST00000434298.1_Missense_Mutation_p.Y559C|RNF111_ENST00000557998.1_Missense_Mutation_p.Y559C NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 559 multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) GGTACCAGCTATCATGAACAG 0.473000 19 64 0 0 1 0 0 XPNPEP1 7511 broad.mit.edu 37 10 111643888 111643888 + Missense_Mutation SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr10:111643888C>T ENST00000502935.1 - 9 886 c.767G>A c.(766-768)gGa>gAa p.G256E XPNPEP1_ENST00000369683.1_Missense_Mutation_p.G142E|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.G256E|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.G213E|XPNPEP1_ENST00000430337.1_5'UTR Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, soluble 213 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1) 31 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) CACATCTGATCCTCGGAGATT 0.463000 OREG0020527 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 91 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 877870 877870 + Missense_Mutation SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr4:877870C>T ENST00000314167.4 - 12 1320 c.1210G>A c.(1210-1212)Gca>Aca p.A404T GAK_ENST00000511163.1_Missense_Mutation_p.A325T NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 404 Phosphatase tensin-type. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) TCACCCTTTGCATAACTGGAA 0.532000 11 51 0 0 1 0 0 TNFRSF19 55504 broad.mit.edu 37 13 24233325 24233325 + Missense_Mutation SNP G G C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr13:24233325G>C ENST00000382263.3 + 6 766 c.582G>C c.(580-582)aaG>aaC p.K194N TNFRSF19_ENST00000382258.4_Missense_Mutation_p.K194N|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.K194N|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.K62N NM_001204458.1 NP_001191387.1 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, member 19 194 apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 22 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) TCTATTGTAAGAGACAGTTTA 0.512000 27 55 0 0 1 0 0 XIAP 331 broad.mit.edu 37 X 123019596 123019596 + Silent SNP T T C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chrX:123019596T>C ENST00000371199.3 + 2 383 c.84T>C c.(82-84)aaT>aaC p.N28N XIAP_ENST00000434753.3_Silent_p.N28N|XIAP_ENST00000355640.3_Silent_p.N28N|XIAP_ENST00000468691.1_Intron NM_001167.3 NP_001158.2 P98170 XIAP_HUMAN X-linked inhibitor of apoptosis 28 anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus cytosol caspase inhibitor activity|ligase activity|protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3) 25 AAGAGTTTAATAGATTAAAAA 0.368000 X-linked Lymphoproliferative syndrome 57 169 0 0 1 0 0 RPL5 6125 broad.mit.edu 37 1 93301939 93301939 + Missense_Mutation SNP A A G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr1:93301939A>G ENST00000370321.3 + 5 607 c.517A>G c.(517-519)Atc>Gtc p.I173V NM_000969.3 NP_000960.2 P46777 RL5_HUMAN ribosomal protein L5 173 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) AGGCTTGTCTATCCCTCACAG 0.468000 24 53 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72984482 72984482 + Silent SNP G G A rs150708280 by1000genomes TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr16:72984482G>A ENST00000268489.5 - 3 3774 c.3102C>T c.(3100-3102)atC>atT p.I1034I ZFHX3_ENST00000397992.5_Silent_p.I120I NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1034 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CGGGGTTGCCGATGGCCACAC 0.612000 20 49 0 0 1 0 0 CSNK1E 1454 broad.mit.edu 37 22 38696830 38696830 + Missense_Mutation SNP T T C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr22:38696830T>C ENST00000396832.1 - 5 724 c.464A>G c.(463-465)aAg>aGg p.K155R CSNK1E_ENST00000413574.2_Missense_Mutation_p.K155R|CSNK1E_ENST00000405675.3_Missense_Mutation_p.K155R|CSNK1E_ENST00000403904.1_Missense_Mutation_p.K155R|CSNK1E_ENST00000400206.2_Missense_Mutation_p.K155R|CSNK1E_ENST00000359867.3_Missense_Mutation_p.K155R NM_152221.2 NP_689407.1 P49674 KC1E_HUMAN casein kinase 1, epsilon 155 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Melanoma(58;0.045) GTCCCGGTACTTCTTGGCCAG 0.597000 41 89 0 0 1 0 0 METTL16 79066 broad.mit.edu 37 17 2318556 2318556 + RNA SNP T T A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr17:2318556T>A ENST00000571332.1 - 0 823 NR_028335.1 ACCAGAAACATAAGGGGAGAC 0.567000 104 63 0 0 1 0 0 HDAC11 79885 broad.mit.edu 37 3 13544481 13544481 + Splice_Site SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr3:13544481G>A ENST00000295757.3 + 8 832 c.e8+1 HDAC11_ENST00000446613.2_Splice_Site|HDAC11_ENST00000404040.1_Splice_Site|HDAC11_ENST00000522202.1_Splice_Site|HDAC11_ENST00000402271.1_Splice_Site|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000433119.1_Splice_Site|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000437379.2_Splice_Site|HDAC11_ENST00000404548.1_Intron NM_024827.3 NP_079103.2 Q96DB2 HDA11_HUMAN histone deacetylase 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3) 13 TTTGCCAAGCGTAAGCTGCTG 0.572000 42 50 0 0 1 0 0 HSPA4 3308 broad.mit.edu 37 5 132440088 132440088 + Missense_Mutation SNP C C T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr5:132440088C>T ENST00000304858.2 + 19 2772 c.2483C>T c.(2482-2484)tCg>tTg p.S828L NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 828 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding p.S828L(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCTGTGCCTTCGGATTCAGAC 0.438000 25 53 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113418852 113418852 + Missense_Mutation SNP A A T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr8:113418852A>T ENST00000297405.5 - 35 5954 c.5710T>A c.(5710-5712)Tgt>Agt p.C1904S CSMD3_ENST00000343508.3_Missense_Mutation_p.C1864S|CSMD3_ENST00000455883.2_Missense_Mutation_p.C1800S|CSMD3_ENST00000352409.3_Missense_Mutation_p.C1834S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1904 Sushi 10. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CCTGGATTACAATCAAAAAGA 0.413000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 85 88 0 0 1 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64133296 64133296 + Silent SNP T T C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr3:64133296T>C ENST00000295902.6 - 7 1455 c.870A>G c.(868-870)aaA>aaG p.K290K PRICKLE2_ENST00000564377.1_Silent_p.K346K NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 290 LIM zinc-binding 3. cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CCAGGAGGGATTTCTTGCAGT 0.532000 26 42 0 0 1 0 0 UACA 55075 broad.mit.edu 37 15 70959587 70959587 + Nonsense_Mutation SNP G G A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr15:70959587G>A ENST00000322954.6 - 16 3621 c.3436C>T c.(3436-3438)Cag>Tag p.Q1146* UACA_ENST00000379983.2_Nonsense_Mutation_p.Q1133*|UACA_ENST00000560441.1_Nonsense_Mutation_p.Q1131*|UACA_ENST00000539319.1_Nonsense_Mutation_p.Q1037* NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 1146 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 ACTGTCTGCTGCTCTTTCTCG 0.398000 9 228 0 0 1 0 0 TBC1D31 93594 broad.mit.edu 37 8 124138344 124138344 + Missense_Mutation SNP A A G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr8:124138344A>G ENST00000287380.1 + 12 1709 c.1619A>G c.(1618-1620)aAt>aGt p.N540S TBC1D31_ENST00000378080.2_Missense_Mutation_p.N435S|TBC1D31_ENST00000522420.1_Missense_Mutation_p.N435S|TBC1D31_ENST00000518805.1_Missense_Mutation_p.N173S|TBC1D31_ENST00000521676.1_Missense_Mutation_p.N417S|TBC1D31_ENST00000327098.5_Missense_Mutation_p.N540S|TBC1D31_ENST00000309336.3_Missense_Mutation_p.N540S NM_145647.3 NP_663622.2 TBC1 domain family, member 31 CCTCCTATCAATATTCTTAGC 0.328000 39 99 0 0 1 0 0 EDNRB 1910 broad.mit.edu 37 13 78492249 78492249 + Missense_Mutation SNP C C A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr13:78492249C>A ENST00000377211.4 - 2 882 c.730G>T c.(730-732)Gac>Tac p.D244Y EDNRB_ENST00000334286.5_Missense_Mutation_p.D154Y|EDNRB_ENST00000446573.1_Missense_Mutation_p.D154Y NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 154 T -> M (in dbSNP:rs5350). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) ATAGGGATGTCAATGACGATG 0.507000 34 75 1.57351e-24 1.7657e-24 1 1 0 HPRT1 3251 broad.mit.edu 37 X 133620520 133620520 + Missense_Mutation SNP A A G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chrX:133620520A>G ENST00000298556.7 + 4 503 c.344A>G c.(343-345)aAa>aGa p.K115R HPRT1_ENST00000462974.1_3'UTR NM_000194.2 NP_000185.1 P00492 HPRT_HUMAN hypoxanthine phosphoribosyltransferase 1 115 adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development cytosol guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 9 Acute lymphoblastic leukemia(192;0.000127) Mercaptopurine(DB01033)|Thioguanine(DB00352) GGGGACATAAAAGTAATTGGT 0.308000 11 30 0 0 1 0 0 PCDHGC3 5098 broad.mit.edu 37 5 140855787 140855787 + Missense_Mutation SNP A A T TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr5:140855787A>T ENST00000308177.3 + 1 208 c.104A>T c.(103-105)tAt>tTt p.Y35F PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCATTCACTATGAGATCCCG 0.587000 39 81 0 0 1 0 0 RP11-782C8.1 0 broad.mit.edu 37 1 143211637 143211639 + RNA DEL TTC TTC - TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr1:143211637_143211639delTTC ENST00000438000.1 + 0 59 TCCTTTCTAATTCTTCTCTATTT 0.286 8 20 --- --- --- --- ZFP36L2 678 broad.mit.edu 37 2 43452464 43452465 + Frame_Shift_Ins INS - - G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr2:43452464_43452465insG ENST00000282388.3 - 2 771_772 c.478_479insC c.(478-480)gccfs p.A160fs THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 160 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) CTCGAAGGGCCGGCACAGCTCG 0.649 14 32 --- --- --- --- DYNC1I2 1781 broad.mit.edu 37 2 172569318 172569319 + Frame_Shift_Ins INS - - C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr2:172569318_172569319insC ENST00000534253.2 + 6 545_546 c.377_378insC c.(376-378)ctcfs p.L126fs DYNC1I2_ENST00000508530.1_Intron|DYNC1I2_ENST00000263811.4_Frame_Shift_Ins_p.L120fs|DYNC1I2_ENST00000410079.3_Intron|DYNC1I2_ENST00000409453.1_Frame_Shift_Ins_p.L126fs|DYNC1I2_ENST00000409773.1_Frame_Shift_Ins_p.L126fs|DYNC1I2_ENST00000409317.1_Frame_Shift_Ins_p.L120fs|DYNC1I2_ENST00000409197.1_Intron|DYNC1I2_ENST00000397119.3_Frame_Shift_Ins_p.L126fs|DYNC1I2_ENST00000358002.6_Intron|DYNC1I2_ENST00000340296.4_Intron Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 126 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.198) CTTCAGCTTCACTCAGATTCCG 0.361 47 129 --- --- --- --- FBXW7 55294 broad.mit.edu 37 4 153332540 153332558 + Frame_Shift_Del DEL TGTGTATGTTCATCTTCTC TGTGTATGTTCATCTTCTC - rs61748169 byFrequency TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr4:153332540_153332558delTGTGTATGTTCATCTTCTC ENST00000281708.4 - 2 1627_1645 c.398_416delGAGAAGATGAACATACACA c.(397-417)atfs p.REDEHTH133fs FBXW7_ENST00000603548.1_Frame_Shift_Del_p.REDEHTH133fs|FBXW7_ENST00000604872.1_Frame_Shift_Del_p.REDEHTH133fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.REDEHTH133fs NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 133 R -> G (in dbSNP:rs6842544). 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.H139N(2) 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) ACTGTTAGTATGTGTATGTTCATCTTCTCTGCTACTATC 0.434 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 16 68 --- --- --- --- HNRNPH1 3187 broad.mit.edu 37 5 179046282 179046286 + Frame_Shift_Del DEL CTTTC CTTTC - TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr5:179046282_179046286delCTTTC ENST00000356731.5 - 4 2055_2059 c.520_524delGAAAG c.(520-525)afs p.ER174fs HNRNPH1_ENST00000510411.1_Frame_Shift_Del_p.ER174fs|HNRNPH1_ENST00000329433.6_Frame_Shift_Del_p.ER174fs|HNRNPH1_ENST00000442819.2_Frame_Shift_Del_p.ER174fs|HNRNPH1_ENST00000393432.4_Frame_Shift_Del_p.ER174fs P31943 HNRH1_HUMAN heterogeneous nuclear ribonucleoprotein H1 (H) 174 RRM 2. regulation of RNA splicing actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|poly(U) RNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1) 14 GTGCCCTATTCTTTCCTTGTGTTTC 0.429 58 262 --- --- --- --- KATNA1 11104 broad.mit.edu 37 6 149925823 149925824 + Frame_Shift_Del DEL TA TA - TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr6:149925823_149925824delTA ENST00000367411.2 - 5 854_855 c.596_597delTA c.(595-597)afs p.I200fs KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335643.8_Intron|KATNA1_ENST00000335647.5_Frame_Shift_Del_p.I200fs NM_007044.3 NP_008975.1 O75449 KTNA1_HUMAN katanin p60 (ATPase containing) subunit A 1 200 cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 12 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) TCTGGGAAATTATATCTCTTTC 0.371 36 104 --- --- --- --- RP5-905H7.3 0 broad.mit.edu 37 7 62701951 62701952 + RNA INS - - A TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr7:62701951_62701952insA ENST00000451381.1 - 0 55 CTTTTTTGGAGAAAAAATATAT 0.337 2 4 --- --- --- --- DUSP8 1850 broad.mit.edu 37 11 1585103 1585103 + Frame_Shift_Del DEL G G - TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr11:1585103delG ENST00000397374.3 - 3 475 c.348delC c.(346-348)ttfs p.F116fs DUSP8_ENST00000331588.4_Frame_Shift_Del_p.F116fs NM_004420.2 NP_004411.2 Q13202 DUS8_HUMAN dual specificity phosphatase 8 116 Rhodanese. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) CCACGCTGTCGAAGCAGCCGT 0.672 2 4 --- --- --- --- DNAJC14 85406 broad.mit.edu 37 12 56222200 56222201 + Frame_Shift_Ins INS - - G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr12:56222200_56222201insG ENST00000357606.3 - 3 531_532 c.242_243insC c.(241-243)cggfs p.R81fs DNAJC14_ENST00000317269.3_Frame_Shift_Ins_p.R81fs|DNAJC14_ENST00000317287.5_Frame_Shift_Ins_p.R81fs Q6Y2X3 DJC14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 14 81 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 TAGGTGGTCCTGGACCCCCTGG 0.559 76 188 --- --- --- --- AJUBA 84962 broad.mit.edu 37 14 23450686 23450687 + Frame_Shift_Ins INS - - AG TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr14:23450686_23450687insAG ENST00000262713.2 - 1 1164_1165 c.789_790insCT c.(787-792)tctgacfs p.D264fs AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.D264fs|RP11-298I3.5_ENST00000555074.1_Intron NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 264 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding TAGCCGGTCACAGAGTGTCGTC 0.728 14 11 --- --- --- --- UPF3AP2 147150 broad.mit.edu 37 17 20279655 20279655 + RNA DEL T T - TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr17:20279655delT ENST00000578315.1 - 0 51 tctgtctctcttttttttttt 0.383 2 4 --- --- --- --- COX11 1353 broad.mit.edu 37 17 53042103 53042104 + Frame_Shift_Ins INS - - TG TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr17:53042103_53042104insTG ENST00000299335.3 - 2 614_615 c.476_477insCA c.(475-477)cgcfs p.R159fs COX11_ENST00000571584.1_Frame_Shift_Ins_p.R159fs NM_004375.3 NP_004366.1 Q9Y6N1 COX11_HUMAN cytochrome c oxidase assembly homolog 11 (yeast) 159 respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane copper ion binding|cytochrome-c oxidase activity|electron carrier activity endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1) 9 GGAGACTTGCATGCACATCTGC 0.361 35 105 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 39006732 39006732 + Frame_Shift_Del DEL G G - TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr19:39006732delG ENST00000355481.4 + 65 9691 c.9560delG c.(9559-9561)cgfs p.R3187fs RYR1_ENST00000359596.3_Frame_Shift_Del_p.R3187fs|RYR1_ENST00000360985.3_Frame_Shift_Del_p.R3187fs NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3187 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCCAGGCTTCGGCCAGCCCTC 0.657 2 4 --- --- --- --- NF2 4771 broad.mit.edu 37 22 30038273 30038299 + Splice_Site DEL AGGTAGGCTCAAAGAAGAAAAATGTAT AGGTAGGCTCAAAGAAGAAAAATGTAT - TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chr22:30038273_30038299delAGGTAGGCTCAAAGAAGAAAAATGTAT ENST00000338641.4 + 4 887_888 c.447_splice c.e4+1 p.149_splice NF2_ENST00000361452.4_Splice_Site_p.108_splice|NF2_ENST00000403999.3_Splice_Site_p.149_splice|NF2_ENST00000397789.3_Splice_Site_p.149_splice|NF2_ENST00000353887.4_Splice_Site_p.66_splice|NF2_ENST00000403435.1_Splice_Site_p.149_splice|NF2_ENST00000361676.4_Splice_Site_p.107_splice|NF2_ENST00000347330.5_Splice_Site_p.66_splice|NF2_ENST00000334961.7_Splice_Site_p.66_splice|NF2_ENST00000361166.4_Splice_Site_p.149_splice|NF2_ENST00000413209.2_Splice_Site_p.149_splice NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 149 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.V122_K149del(5)|p.?(5)|p.K149N(1)|p.K149fs*25(1)|p.K123fs*2(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 GTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGG 0.449 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 7 61 --- --- --- --- KIF4A 24137 broad.mit.edu 37 X 69519024 69519024 + Frame_Shift_Del DEL T T - TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52ea34af-b9b8-46bd-9aac-41a42256c53c 842d2bd9-deaa-48e8-9a03-5ed8c075944f g.chrX:69519024delT ENST00000374403.3 + 5 570 c.488delT c.(487-489)aafs p.I163fs KIF4A_ENST00000374388.3_Frame_Shift_Del_p.I163fs NM_012310.4 NP_036442.3 O95239 KIF4A_HUMAN kinesin family member 4A 163 Kinesin-motor. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 CAAATAAATATACGAGAGGAT 0.308 27 70 --- --- --- ---