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 HTR1B 3351 broad.mit.edu 37 6 78172306 78172306 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr6:78172306G>A ENST00000369947.2 - 1 1184 c.815C>T c.(814-816)tCg>tTg p.S272L NM_000863.1 NP_000854.1 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 272 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity p.S272*(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 25 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) GGGAACCCGCGAGTTAATAGA 0.572000 49 142 0 0 1 0 0 ICAM5 7087 broad.mit.edu 37 19 10404587 10404587 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:10404587C>T ENST00000221980.4 + 7 1742 c.1679C>T c.(1678-1680)tCt>tTt p.S560F NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 560 Ig-like C2-type 6. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) CCTCGGGGCTCTGCGGCCAAA 0.667000 6 75 0 0 1 0 0 PHACTR3 116154 broad.mit.edu 37 20 58330363 58330363 + Missense_Mutation SNP C C T rs145693547 TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr20:58330363C>T ENST00000371015.1 + 4 952 c.485C>T c.(484-486)aCg>aTg p.T162M PHACTR3_ENST00000395639.4_Missense_Mutation_p.T121M|PHACTR3_ENST00000359926.3_Missense_Mutation_p.T159M|PHACTR3_ENST00000355648.4_Missense_Mutation_p.T121M|PHACTR3_ENST00000395636.2_Missense_Mutation_p.T121M|PHACTR3_ENST00000541461.1_Missense_Mutation_p.T121M|PHACTR3_ENST00000361300.4_Missense_Mutation_p.T121M NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 162 nuclear matrix actin binding|protein phosphatase inhibitor activity p.T162M(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GCCACTGGGACGGACCAGGTC 0.607000 7 25 0 0 1 0 0 GRK5 2869 broad.mit.edu 37 10 121196222 121196222 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr10:121196222G>A ENST00000392870.2 + 9 1127 c.798G>A c.(796-798)atG>atA p.M266I GRK5_ENST00000369108.3_Missense_Mutation_p.M161I NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 266 Protein kinase. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) TGACCATCATGAATGGGGGTG 0.552000 7 42 0 0 1 0 0 OSBPL10 114884 broad.mit.edu 37 3 31789571 31789571 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:31789571G>A ENST00000396556.2 - 5 893 c.771C>T c.(769-771)caC>caT p.H257H OSBPL10_ENST00000438237.2_Silent_p.H193H|OSBPL10_ENST00000467647.1_5'UTR NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 257 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) ACTCAATGGCGTGCACAAGGT 0.592000 6 37 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51888824 51888824 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr12:51888824C>G ENST00000453097.2 + 21 3082 c.2865C>G c.(2863-2865)ttC>ttG p.F955L SLC4A8_ENST00000358657.3_Missense_Mutation_p.F982L NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 955 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) TGCACCTCTTCACCCTCATCC 0.498000 14 66 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885093 88885093 + Silent SNP A A C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr8:88885093A>C ENST00000319675.3 - 1 1203 c.1107T>G c.(1105-1107)tcT>tcG p.S369S NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 369 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CGAGGCGAGAAGAGAAGGCCA 0.592000 13 50 0 0 1 0 0 OR51B6 390058 broad.mit.edu 37 11 5373372 5373372 + Missense_Mutation SNP T T C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:5373372T>C ENST00000380219.1 + 1 635 c.635T>C c.(634-636)aTc>aCc p.I212T HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001004750.1 NP_001004750.1 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, member 6 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTTCTCATCATCTTTTTCTCC 0.448000 16 49 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49652940 49652940 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:49652940C>T ENST00000334186.4 + 28 3840 c.3491C>T c.(3490-3492)tCt>tTt p.S1164F PPFIA3_ENST00000602351.1_Missense_Mutation_p.S1155F NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 1164 cell surface|cytoplasm protein binding p.G1160fs*>21(2)|p.S1164F(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GCCCTGGGCTCTCCGGGGCTC 0.652000 5 37 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152719867 152719867 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr6:152719867C>G ENST00000341594.5 - 52 7952 c.7351G>C c.(7351-7353)Gag>Cag p.E2451Q SYNE1_ENST00000367255.5_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2413 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGCATAGACTCTTTTGAAAGa 0.368000 HNSCC(10;0.0054) 10 30 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16794760 16794760 + Silent SNP G G T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr5:16794760G>T ENST00000513610.1 - 4 916 c.462C>A c.(460-462)ctC>ctA p.L154L NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 154 Myosin head-like. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GTTACCTGATGAGGATGCACT 0.647000 6 17 0.00116845 0.00118324 1 1 0 GRIK1 2897 broad.mit.edu 37 21 30909552 30909552 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr21:30909552C>T ENST00000399914.1 - 17 3325 c.2804G>A c.(2803-2805)tGa>tAa p.*935* GRIK1_ENST00000535441.1_Silent_p.*923*|GRIK1_ENST00000327783.4_Silent_p.*950*|GRIK1_ENST00000389125.3_Silent_p.*906*|GRIK1_ENST00000399913.1_Silent_p.*921* P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 0 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TTCCTTGGATCACGCCACAGT 0.383000 7 22 0 0 1 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41448092 41448092 + RNA SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:41448092C>G ENST00000599198.1 + 0 999 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 TGCTCATGCTCAAATACCCTC 0.567000 10 49 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197184440 197184440 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:197184440G>C ENST00000260983.2 - 9 1356 c.1174C>G c.(1174-1176)Ctg>Gtg p.L392V HECW2_ENST00000409111.1_Missense_Mutation_p.L36V NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 392 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 TCTATTTCCAGAGTGGAGCTA 0.502000 11 69 0 0 1 0 0 FAM172A 83989 broad.mit.edu 37 5 92956773 92956773 + Nonsense_Mutation SNP C C A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr5:92956773C>A ENST00000395965.3 - 11 1313 c.1171G>T c.(1171-1173)Gaa>Taa p.E391* FAM172A_ENST00000509739.1_Nonsense_Mutation_p.E244*|FAM172A_ENST00000509163.1_Nonsense_Mutation_p.E345*|FAM172A_ENST00000505869.1_Nonsense_Mutation_p.E281* NM_032042.5 NP_114431.2 Q8WUF8 F172A_HUMAN family with sequence similarity 172, member A 391 endoplasmic reticulum|extracellular region endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 TCTGAGGCTTCGGTAAAGAAT 0.577000 9 51 2.17888e-05 2.23475e-05 1 1 0 DPYSL3 1809 broad.mit.edu 37 5 146785192 146785192 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr5:146785192G>A ENST00000343218.5 - 8 1331 c.1134C>T c.(1132-1134)atC>atT p.I378I DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000398514.3_Silent_p.I264I NM_001197294.1 NP_001184223.1 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 264 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCTTGTGAGATGAGGTCAG 0.507000 50 214 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856028 53856028 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:53856028C>T ENST00000458035.1 + 4 2217 c.2100C>T c.(2098-2100)ttC>ttT p.F700F ZNF845_ENST00000595091.1_Silent_p.F700F NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 700 Missing (in Ref. 1; BAG58121). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GCAAGACCTTCGGTCGAAATT 0.438000 62 105 0 0 1 0 0 TBC1D8 11138 broad.mit.edu 37 2 101675982 101675982 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:101675982G>A ENST00000409318.1 - 3 433 c.303C>T c.(301-303)atC>atT p.I101I TBC1D8_ENST00000376840.4_Silent_p.I86I NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 86 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 AGTGCTGATTGATTTCCTCTA 0.368000 18 78 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20530620 20530620 + Missense_Mutation SNP T T C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr4:20530620T>C ENST00000504154.1 + 16 1763 c.1511T>C c.(1510-1512)cTg>cCg p.L504P SLIT2_ENST00000503823.1_Missense_Mutation_p.L496P|SLIT2_ENST00000273739.5_Missense_Mutation_p.L508P|SLIT2_ENST00000503837.1_Missense_Mutation_p.L500P NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 504 LRRNT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TTTGCGGATCTGGCTTGCCCT 0.408000 18 61 0 0 1 0 0 NGLY1 55768 broad.mit.edu 37 3 25773966 25773966 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:25773966C>T ENST00000428257.1 - 9 1322 c.1215G>A c.(1213-1215)ctG>ctA p.L405L NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000417874.2_Silent_p.L381L|NGLY1_ENST00000280700.5_Silent_p.L423L|NGLY1_ENST00000396649.3_Silent_p.L423L NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 423 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 CTGACAAAAACAGTTGCCTCT 0.353000 8 32 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171251239 171251239 + Nonsense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:171251239C>G ENST00000354841.4 + 6 1081 c.950C>G c.(949-951)tCa>tGa p.S317* FMO1_ENST00000402921.2_Nonsense_Mutation_p.S254*|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Nonsense_Mutation_p.S317* Q01740 FMO1_HUMAN flavin containing monooxygenase 1 317 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AACAATACTTCAAAGGAAGAG 0.428000 35 59 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24431985 24431985 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:24431985C>G ENST00000355123.4 - 36 5022 c.4579G>C c.(4579-4581)Gac>Cac p.D1527H ITSN2_ENST00000361999.3_Missense_Mutation_p.D1500H NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 1527 PH. 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) TTAATGTTGTCTGTTCGGAGG 0.532000 8 44 0 0 1 0 0 SH3D21 79729 broad.mit.edu 37 1 36785936 36785936 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:36785936G>A ENST00000453908.2 + 14 1700 c.1672G>A c.(1672-1674)Gac>Aac p.D558N SH3D21_ENST00000312808.4_Missense_Mutation_p.D204N|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000426732.2_Missense_Mutation_p.D442N|SH3D21_ENST00000505871.1_Missense_Mutation_p.D447N NM_001162530.1 NP_001156002.1 A4FU49 SH321_HUMAN SH3 domain containing 21 442 endometrium(1)|large_intestine(6)|lung(4)|pancreas(1) 12 AGTTAGAGGGGACAGCTCCCC 0.622000 23 108 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29126500 29126500 + Missense_Mutation SNP C C G rs2848674 TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr18:29126500C>G ENST00000261590.8 + 15 3360 c.3151C>G c.(3151-3153)Cta>Gta p.L1051V RP11-75N4.2_ENST00000583706.1_RNA NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 1051 cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) AGAAAGAGTTCTAGCACCTGC 0.527000 15 79 0 0 1 0 0 PADI4 23569 broad.mit.edu 37 1 17657605 17657605 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:17657605G>A ENST00000375448.4 + 2 260 c.234G>A c.(232-234)ctG>ctA p.L78L PADI4_ENST00000375453.1_Silent_p.L78L|AC004824.2_ENST00000602074.1_Intron NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 78 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) AGGTGACCCTGACGATGAAAG 0.612000 4 87 0 0 1 0 0 SRPK2 6733 broad.mit.edu 37 7 104782803 104782803 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr7:104782803C>G ENST00000357311.3 - 10 1333 c.1162G>C c.(1162-1164)Gag>Cag p.E388Q SRPK2_ENST00000489828.1_Missense_Mutation_p.E388Q|SRPK2_ENST00000393651.3_Missense_Mutation_p.E399Q NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 388 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 GGGCCATTCTCAATATGGCCA 0.413000 16 71 0 0 1 0 0 LRIT3 345193 broad.mit.edu 37 4 110791001 110791001 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr4:110791001G>A ENST00000327908.3 + 4 1311 c.547G>A c.(547-549)Gag>Aag p.E183K LRIT3_ENST00000379920.3_Missense_Mutation_p.E321K|LRIT3_ENST00000409621.2_Missense_Mutation_p.E183K|LRIT3_ENST00000594814.1_Missense_Mutation_p.E366K Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 321 LRRCT. integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) AGATCATCCTGAGTGGGATGT 0.483000 26 130 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152081624 152081624 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:152081624C>G ENST00000368804.1 - 2 4068 c.4069G>C c.(4069-4071)Gag>Cag p.E1357Q NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1357 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTCACGCTCTTGGCGGCGC 0.577000 60 256 0 0 1 0 0 ODF3B 440836 broad.mit.edu 37 22 50969674 50969674 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr22:50969674G>A ENST00000329363.4 - 4 500 c.364C>T c.(364-366)Cgg>Tgg p.R122W ODF3B_ENST00000428989.2_Missense_Mutation_p.R122W|ODF3B_ENST00000405135.1_Missense_Mutation_p.S137L|ODF3B_ENST00000403326.1_Missense_Mutation_p.R54W|ODF3B_ENST00000401779.1_Missense_Mutation_p.S98L NM_001014440.3 NP_001014440.2 A8MYP8 ODF3B_HUMAN outer dense fiber of sperm tails 3B 122 lung(2) 2 ATGGTGTGCCGAGGCGCACTG 0.672000 11 27 0 0 1 0 0 MARCH4 57574 broad.mit.edu 37 2 217148387 217148387 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:217148387G>C ENST00000273067.4 - 2 2348 c.582C>G c.(580-582)atC>atG p.I194M NM_020814.2 NP_065865.1 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase 194 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) TGATCCACTTGATGAGGCAAG 0.582000 11 54 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72143611 72143611 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr15:72143611G>A ENST00000356056.5 - 37 7036 c.6564C>T c.(6562-6564)ctC>ctT p.L2188L MYO9A_ENST00000444904.1_Silent_p.L2169L|MYO9A_ENST00000424560.1_Silent_p.L2259L|MYO9A_ENST00000564571.1_Silent_p.L2188L NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 2188 Rho-GAP.|Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GATGAAAGATGAGGCGTTCCA 0.383000 4 28 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109699313 109699313 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr13:109699313C>T ENST00000356711.2 + 24 2906 c.2780C>T c.(2779-2781)tCa>tTa p.S927L MYO16_ENST00000357550.2_Missense_Mutation_p.S927L|MYO16_ENST00000457511.2_Missense_Mutation_p.S439L|MYO16_ENST00000251041.5_Missense_Mutation_p.S927L NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 927 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GACTCCCTTTCACAGAATCTT 0.318000 10 45 0 0 1 0 0 SCYL3 57147 broad.mit.edu 37 1 169845188 169845188 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:169845188C>T ENST00000367772.4 - 4 593 c.396G>A c.(394-396)gtG>gtA p.V132V SCYL3_ENST00000367771.5_Silent_p.V132V|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_Silent_p.V132V NM_181093.3 NP_851607.2 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) 132 Protein kinase. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CATCTTCACTCACAAACACAG 0.443000 21 50 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10951388 10951388 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr21:10951388G>A ENST00000298232.7 - 9 637 c.270C>T c.(268-270)ctC>ctT p.L90L TPTE_ENST00000361285.4_Silent_p.L108L|TPTE_ENST00000342420.5_Silent_p.L70L|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 108 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CGGCAAGGATGAGAGTGACAT 0.333000 17 120 0 0 1 0 0 CD226 10666 broad.mit.edu 37 18 67562982 67562982 + Missense_Mutation SNP C C T rs146723371 byFrequency TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr18:67562982C>T ENST00000280200.4 - 4 950 c.682G>A c.(682-684)Gca>Aca p.A228T CD226_ENST00000582621.1_Missense_Mutation_p.A228T|CD226_ENST00000581982.1_Missense_Mutation_p.A73T|CD226_ENST00000577287.1_Missense_Mutation_p.A73T NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 228 Ig-like C2-type 2. cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity p.A228T(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) TTTTCTCCTGCGCTGGCCTGC 0.542000 5 171 0 0 1 0 0 TMEM155 132332 broad.mit.edu 37 4 122682803 122682803 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr4:122682803C>G ENST00000337677.5 - 5 660 c.102G>C c.(100-102)caG>caC p.Q34H TMEM155_ENST00000394394.1_Missense_Mutation_p.Q34H|TMEM155_ENST00000394396.1_Missense_Mutation_p.Q34H NM_152399.2 NP_689612.2 Q4W5P6 TM155_HUMAN transmembrane protein 155 34 extracellular region breast(1)|lung(5) 6 CTCTCTTATTCTGTAGAATCG 0.423000 10 30 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082282 152082282 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:152082282C>G ENST00000368804.1 - 2 3410 c.3411G>C c.(3409-3411)gaG>gaC p.E1137D NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1137 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) gatattgcctctccagctcct 0.607000 23 105 0 0 1 0 0 SPP2 6694 broad.mit.edu 37 2 234978605 234978605 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:234978605G>A ENST00000168148.3 + 7 672 c.584G>A c.(583-585)aGa>aAa p.R195K SPP2_ENST00000373368.1_Missense_Mutation_p.R195K NM_006944.2 NP_008875.1 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa 195 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) CCTGGAAACAGAAGGTACCCA 0.438000 12 44 0 0 1 0 0 USP53 54532 broad.mit.edu 37 4 120194844 120194844 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr4:120194844G>A ENST00000450251.1 + 13 2776 c.2232G>A c.(2230-2232)caG>caA p.Q744Q USP53_ENST00000274030.6_Silent_p.Q744Q Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 744 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 CCTCCCTTCAGAGCCAACATC 0.323000 4 28 0 0 1 0 0 ZFP91 80829 broad.mit.edu 37 11 58384768 58384768 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:58384768C>T ENST00000316059.6 + 11 1473 c.1302C>T c.(1300-1302)atC>atT p.I434I ZFP91-CNTF_ENST00000389919.4_Silent_p.I434I NM_001197051.1|NM_053023.4 NP_001183980.1|NP_444251.1 Q96JP5 ZFP91_HUMAN ZFP91 zinc finger protein 434 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) CTTGCAATATCTGTGGCAAAA 0.458000 14 38 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53577973 53577973 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chrX:53577973C>T ENST00000342160.3 - 64 9731 c.9274G>A c.(9274-9276)Gag>Aag p.E3092K HUWE1_ENST00000262854.6_Missense_Mutation_p.E3092K Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3092 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 GCTTGAGCCTCAGCTGCAATG 0.562000 20 23 0 0 1 0 0 PHF1 5252 broad.mit.edu 37 6 33383784 33383784 + Missense_Mutation SNP G G T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr6:33383784G>T ENST00000374516.3 + 15 1884 c.1613G>T c.(1612-1614)cGa>cTa p.R538L PHF1_ENST00000374512.3_3'UTR NM_024165.2 NP_077084.1 O43189 PHF1_HUMAN PHD finger protein 1 538 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) TACCTGTCCCGAGGGGACCCT 0.632000 6 153 0.00116845 0.00118324 1 1 0 USP20 10868 broad.mit.edu 37 9 132637139 132637139 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr9:132637139G>A ENST00000315480.4 + 19 2111 c.1953G>A c.(1951-1953)gtG>gtA p.V651V USP20_ENST00000372429.3_Silent_p.V651V|USP20_ENST00000358355.1_Silent_p.V651V Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 651 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) GCCAGAACGTGATCAATGGGC 0.602000 14 32 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr20:29628282G>A ENST00000278882.3 + 6 664 c.284G>A c.(283-285)gGg>gAg p.G95E FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATGAAGCAGGGGACATAGAA 0.373000 4 124 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8890432 8890432 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:8890432C>G ENST00000256707.3 - 24 3405 c.3224G>C c.(3223-3225)gGa>gCa p.G1075A KIDINS220_ENST00000473731.1_Missense_Mutation_p.G1075A|KIDINS220_ENST00000427284.1_Missense_Mutation_p.G1075A|KIDINS220_ENST00000418530.1_Missense_Mutation_p.G1033A NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1075 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CGCCAGTCCTCCAATACTGAT 0.532000 12 34 0 0 1 0 0 MT-ND1 4535 broad.mit.edu 37 MT 3786 3786 + Missense_Mutation SNP T T C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chrM:3786T>C ENST00000361390.2 + 1 480 c.480T>C c.(478-480)ttT>ttC p.160_160insF mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 AGTGGCTCCTTTAACCTCTCC 0.458000 15 11 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128488768 128488768 + Silent SNP C C A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr7:128488768C>A ENST00000325888.8 + 27 4995 c.4734C>A c.(4732-4734)atC>atA p.I1578I FLNC_ENST00000346177.6_Silent_p.I1578I NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1578 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CTGTCCAGATCTTGGTGAGTC 0.657000 8 137 0.0477658 0.0480058 1 1 0 PTPRU 10076 broad.mit.edu 37 1 29586053 29586053 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:29586053G>A ENST00000373779.3 + 5 781 c.652G>A c.(652-654)Gag>Aag p.E218K PTPRU_ENST00000460170.2_Missense_Mutation_p.E218K|PTPRU_ENST00000428026.2_Missense_Mutation_p.E218K|PTPRU_ENST00000345512.3_Missense_Mutation_p.E218K|PTPRU_ENST00000356870.3_Missense_Mutation_p.E218K|PTPRU_ENST00000323874.8_Missense_Mutation_p.E218K NM_001195001.1|NM_133178.3 NP_001181930.1|NP_573439.2 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 218 Ig-like C2-type. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CAGAGCGGCCGAGGCCGAACG 0.701000 8 32 0 0 1 0 0 ZDHHC16 84287 broad.mit.edu 37 10 99214507 99214507 + Nonsense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr10:99214507C>T ENST00000393760.1 + 9 1124 c.775C>T c.(775-777)Cga>Tga p.R259* ZDHHC16_ENST00000352634.4_Nonsense_Mutation_p.R243*|ZDHHC16_ENST00000370854.3_Nonsense_Mutation_p.R259*|ZDHHC16_ENST00000345745.5_Nonsense_Mutation_p.R178*|ZDHHC16_ENST00000370842.2_Nonsense_Mutation_p.R243*|ZDHHC16_ENST00000353979.3_Nonsense_Mutation_p.R220*|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000495735.1_3'UTR NM_198046.1 NP_932163.1 Q969W1 ZDH16_HUMAN zinc finger, DHHC-type containing 16 259 apoptosis endoplasmic reticulum membrane|integral to membrane acyltransferase activity|zinc ion binding kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 14 Colorectal(252;0.0846) Epithelial(162;5.81e-10)|all cancers(201;4.19e-08) CTTCTCCTTTCGAGAAAGGAT 0.463000 29 96 0 0 1 0 0 ALOX15B 247 broad.mit.edu 37 17 7950325 7950325 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr17:7950325G>A ENST00000380183.4 + 10 1527 c.1388G>A c.(1387-1389)cGa>cAa p.R463Q ALOX15B_ENST00000573359.1_Missense_Mutation_p.R434Q|ALOX15B_ENST00000380173.2_Missense_Mutation_p.R434Q|ALOX15B_ENST00000572022.1_Missense_Mutation_p.R463Q NM_001141.2 NP_001132.2 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 463 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 ATCCGGACCCGAGGAGTTGAA 0.557000 10 48 0 0 1 0 0 SOWAHA 134548 broad.mit.edu 37 5 132150735 132150735 + Silent SNP C C A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr5:132150735C>A ENST00000378693.2 + 1 1703 c.1422C>A c.(1420-1422)tcC>tcA p.S474S NM_175873.4 NP_787069.3 Q2M3V2 ANR43_HUMAN sosondowah ankyrin repeat domain family member A 474 TCCTCAGTTCCACCACCAGTG 0.637000 11 17 9.70103e-10 1.03202e-09 1 1 0 EPB41L3 23136 broad.mit.edu 37 18 5434087 5434087 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr18:5434087G>A ENST00000341928.2 - 7 979 c.639C>T c.(637-639)atC>atT p.I213I EPB41L3_ENST00000544123.1_Silent_p.I213I|EPB41L3_ENST00000540638.2_Silent_p.I213I|EPB41L3_ENST00000342933.3_Silent_p.I213I|EPB41L3_ENST00000400111.3_Silent_p.I213I|EPB41L3_ENST00000542652.2_5'UTR NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 213 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 TTCCGGACACGATGTCATCTC 0.542000 16 63 0 0 1 0 0 ACTR5 79913 broad.mit.edu 37 20 37380805 37380805 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr20:37380805C>G ENST00000243903.4 + 3 674 c.637C>G c.(637-639)Ctt>Gtt p.L213V NM_024855.3 NP_079131.3 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog (yeast) 213 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2) 12 Myeloproliferative disorder(115;0.00878) GCGCATCAATCTTGGAGGAAG 0.498000 12 35 0 0 1 0 0 SUN5 140732 broad.mit.edu 37 20 31590714 31590714 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr20:31590714C>T ENST00000356173.3 - 2 181 c.89G>A c.(88-90)cGa>cAa p.R30Q SUN5_ENST00000375523.3_Missense_Mutation_p.R30Q|SUN5_ENST00000375519.2_Missense_Mutation_p.R30Q NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 30 spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 GTTCCGGCCTCGCTGGGCAAT 0.517000 5 59 0 0 1 0 0 GSS 2937 broad.mit.edu 37 20 33529623 33529623 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr20:33529623G>A ENST00000216951.2 - 6 599 c.501C>T c.(499-501)ctC>ctT p.L167L GSS_ENST00000541098.1_Silent_p.L39L|GSS_ENST00000451957.2_Intron NM_000178.2 NP_000169.1 P48637 GSHB_HUMAN glutathione synthetase 167 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) TCAGGACACTGAGAACATGTC 0.502000 13 44 0 0 1 0 0 NADSYN1 55191 broad.mit.edu 37 11 71185569 71185569 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:71185569C>T ENST00000319023.2 + 9 983 c.795C>T c.(793-795)gaC>gaT p.D265D NM_018161.4 NP_060631.2 Q6IA69 NADE_HUMAN NAD synthetase 1 265 CN hydrolase. NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 25 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTCTGGATGACGTGGTAATGA 0.597000 21 84 0 0 1 0 0 WDR60 55112 broad.mit.edu 37 7 158716345 158716345 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr7:158716345G>C ENST00000407559.3 + 17 2336 c.2178G>C c.(2176-2178)ttG>ttC p.L726F NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 726 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) TCTGGGATTTGAGAGAAGACT 0.532000 35 112 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33875192 33875192 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr20:33875192G>A ENST00000374408.3 - 4 1486 c.1390C>T c.(1390-1392)Cgg>Tgg p.R464W NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 464 p.R464W(1) central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) TCTGGGAACCGGGACAGAGCT 0.632000 11 35 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43748812 43748812 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr15:43748812G>A ENST00000263801.3 - 12 2231 c.1979C>T c.(1978-1980)tCa>tTa p.S660L TP53BP1_ENST00000382039.3_Missense_Mutation_p.S665L|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S665L|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S665L NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 660 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CTCAGACCCTGAAGACCCCTC 0.473000 Other conserved DNA damage response genes 30 108 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10541414 10541414 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr17:10541414G>C ENST00000583535.1 - 27 3762 c.3675C>G c.(3673-3675)ttC>ttG p.F1225L MYH3_ENST00000226209.7_Missense_Mutation_p.F1225L NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1225 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TCTCCAGCTTGAACTCGCTCT 0.572000 31 95 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132222099 132222099 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:132222099G>A ENST00000260818.6 + 41 5006 c.4758G>A c.(4756-4758)ctG>ctA p.L1586L NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1586 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TCCATGCTCTGAGTCGCCTTG 0.403000 9 78 0 0 1 0 0 WIZ 58525 broad.mit.edu 37 19 15533892 15533892 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:15533892G>C ENST00000389282.4 - 10 5164 c.4951C>G c.(4951-4953)Ccc>Gcc p.P1651A WIZ_ENST00000545156.1_Missense_Mutation_p.P965A|WIZ_ENST00000263381.6_Missense_Mutation_p.P794A|WIZ_ENST00000599910.1_Missense_Mutation_p.P968A|WIZ_ENST00000599686.2_Missense_Mutation_p.P835A O95785 WIZ_HUMAN widely interspaced zinc finger motifs 1651 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 TTGTGTTAGGGAGCCTCTGCC 0.582000 12 44 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169644487 169644487 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:169644487C>T ENST00000428432.2 + 6 826 c.437C>T c.(436-438)cCt>cTt p.P146L SAMD7_ENST00000335556.3_Missense_Mutation_p.P146L NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 146 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) AGCATGCTCCCTGCCGGTGAC 0.577000 28 130 0 0 1 0 0 XKR9 389668 broad.mit.edu 37 8 71619234 71619234 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr8:71619234C>T ENST00000408926.3 + 4 873 c.339C>T c.(337-339)ttC>ttT p.F113F XKR9_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Silent_p.F113F NM_001011720.1 NP_001011720.1 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related family, member 9 113 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) CTAGTAACTTCGTGGAAGAAC 0.358000 4 41 0 0 1 0 0 HHATL 57467 broad.mit.edu 37 3 42740209 42740209 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:42740209G>A ENST00000441594.1 - 5 735 c.474C>T c.(472-474)atC>atT p.I158I HHATL_ENST00000310417.5_Silent_p.I158I NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 158 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) CCTGCCAAGAGATTAGGGGGT 0.567000 12 161 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31382953 31382953 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr16:31382953G>A ENST00000268296.4 + 17 2129 c.2008G>A c.(2008-2010)Gac>Aac p.D670N ITGAX_ENST00000562522.1_Missense_Mutation_p.D670N NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 670 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 GCCTACAGGTGACCTCCAAAG 0.632000 28 60 0 0 1 0 0 SLC26A1 10861 broad.mit.edu 37 4 985254 985254 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr4:985254C>T ENST00000361661.2 - 3 615 c.238G>A c.(238-240)Ggc>Agc p.G80S IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.G80S|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398520.2_Missense_Mutation_p.G80S NM_213613.2 NP_998778.1 Q9H2B4 S26A1_HUMAN solute carrier family 26 (anion exchanger), member 1 80 integral to membrane|plasma membrane secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.0158) AGGATGATGCCGATGACCAGC 0.652000 35 112 0 0 1 0 0 ANKRD23 200539 broad.mit.edu 37 2 97507919 97507919 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:97507919C>G ENST00000318357.4 - 3 219 c.178G>C c.(178-180)Gaa>Caa p.E60Q ANKRD23_ENST00000331001.2_Missense_Mutation_p.E60Q|ANKRD23_ENST00000418232.1_Missense_Mutation_p.E60Q NM_144994.7 NP_659431.5 Q86SG2 ANR23_HUMAN ankyrin repeat domain 23 60 nucleus endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1) 9 TTAAATCTTTCAAGCTGGGGC 0.532000 20 81 0 0 1 0 0 COL6A2 1292 broad.mit.edu 37 21 47532053 47532053 + Silent SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr21:47532053G>C ENST00000300527.4 + 3 380 c.276G>C c.(274-276)ctG>ctC p.L92L COL6A2_ENST00000310645.5_Silent_p.L92L|COL6A2_ENST00000409416.1_Silent_p.L92L|COL6A2_ENST00000357838.4_Silent_p.L92L|COL6A2_ENST00000397763.1_Silent_p.L92L NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 92 Nonhelical region.|VWFA 1. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) AGGTGGCGCTGAGCTGGCGCT 0.622000 14 62 0 0 1 0 0 SDF4 51150 broad.mit.edu 37 1 1158658 1158658 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:1158658G>C ENST00000263741.7 - 4 835 c.543C>G c.(541-543)atC>atG p.I181M SDF4_ENST00000360001.6_Missense_Mutation_p.I181M|SDF4_ENST00000545427.1_Missense_Mutation_p.I181M NM_016176.3|NM_016547.2 NP_057260.2|NP_057631.1 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 181 cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|identical protein binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 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;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) CGTTGAGCCTGATGGCGTCGG 0.557000 28 75 0 0 1 0 0 ZNF234 10780 broad.mit.edu 37 19 44660827 44660827 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:44660827C>G ENST00000426739.2 + 6 916 c.658C>G c.(658-660)Caa>Gaa p.Q220E ZNF234_ENST00000592437.1_Missense_Mutation_p.Q220E NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) CTCACATCTTCAAACTCATCA 0.408000 51 155 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41557008 41557008 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr8:41557008C>T ENST00000396942.1 - 23 2603 c.2520G>A c.(2518-2520)gaG>gaA p.E840E ANK1_ENST00000396945.1_Silent_p.E840E|ANK1_ENST00000289734.7_Silent_p.E840E|ANK1_ENST00000265709.8_Silent_p.E881E|ANK1_ENST00000379758.2_Silent_p.E840E|ANK1_ENST00000352337.4_Silent_p.E840E|ANK1_ENST00000347528.4_Silent_p.E840E P16157 ANK1_HUMAN ankyrin 1, erythrocytic 840 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GCAGCTCCTTCTCTTCATCAA 0.577000 14 80 0 0 1 0 0 QSOX2 169714 broad.mit.edu 37 9 139110561 139110561 + Silent SNP C C A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr9:139110561C>A ENST00000358701.5 - 8 1087 c.1050G>T c.(1048-1050)ctG>ctT p.L350L NM_181701.3 NP_859052.3 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 350 cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) TGAGCGTCTTCAGCTCTGCTC 0.612000 7 49 7.48243e-07 7.7942e-07 1 1 0 HOMER2 9455 broad.mit.edu 37 15 83561458 83561458 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr15:83561458G>A ENST00000304231.8 - 2 333 c.141C>T c.(139-141)atC>atT p.I47I HOMER2_ENST00000450735.2_Silent_p.I47I|HOMER2_ENST00000426485.1_Silent_p.I47I|HOMER2_ENST00000399166.2_Silent_p.I47I NM_199330.2 NP_955362.1 Q9NSB8 HOME2_HUMAN homer homolog 2 (Drosophila) 47 WH1. metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane cervix(1)|endometrium(2)|lung(6) 9 CCACACTGATGATCCGATAGC 0.498000 36 157 0 0 1 0 0 GANAB 23193 broad.mit.edu 37 11 62400964 62400964 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:62400964C>T ENST00000346178.4 - 7 664 c.649G>A c.(649-651)Gag>Aag p.E217K GANAB_ENST00000540933.1_Missense_Mutation_p.E98K|GANAB_ENST00000534779.1_Missense_Mutation_p.E103K|GANAB_ENST00000356638.3_Missense_Mutation_p.E195K|GANAB_ENST00000534422.1_5'UTR NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 195 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 CCATCGCCCTCAGCTGGGTCT 0.627000 19 75 0 0 1 0 0 KATNAL2 83473 broad.mit.edu 37 18 44625615 44625615 + Splice_Site SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr18:44625615G>A ENST00000245121.5 + 13 1191 c.995_splice c.e13-1 p.E333_splice KATNAL2_ENST00000356157.7_Splice_Site_p.E405_splice NM_031303.2 NP_112593.2 Q8IYT4 KATL2_HUMAN katanin p60 subunit A-like 2 405 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 27 TGATTTCAGGGAGCTGGACTG 0.532000 18 68 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49924801 49924801 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:49924801G>A ENST00000296474.3 - 20 4169 c.4142C>T c.(4141-4143)tCa>tTa p.S1381L MST1R_ENST00000344206.4_Missense_Mutation_p.S1332L NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1381 cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TGGCATGGGTGAGAACTGCGG 0.592000 35 119 0 0 1 0 0 GTPBP8 29083 broad.mit.edu 37 3 112710045 112710045 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:112710045C>T ENST00000383677.3 + 1 214 c.199C>T c.(199-201)Cac>Tac p.H67Y GTPBP8_ENST00000383678.2_Missense_Mutation_p.H67Y NM_138485.1 NP_612494.1 Q8N3Z3 GTPB8_HUMAN GTP-binding protein 8 (putative) 67 barrier septum formation GTP binding kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 6 GCAAGACCTTCACCTGCGTAT 0.622000 16 84 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37691353 37691353 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr8:37691353G>C ENST00000315215.7 + 10 1807 c.1444G>C c.(1444-1446)Gag>Cag p.E482Q GPR124_ENST00000412232.2_Missense_Mutation_p.E482Q Q96PE1 GP124_HUMAN G protein-coupled receptor 124 482 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CCAGATCAAAGAGGTGAGACT 0.532000 17 76 0 0 1 0 0 ZNF133 7692 broad.mit.edu 37 20 18297346 18297346 + Silent SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr20:18297346C>G ENST00000377671.3 + 7 2407 c.1848C>G c.(1846-1848)ctC>ctG p.L616L ZNF133_ENST00000402618.2_Silent_p.L554L|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000316358.4_Silent_p.L617L|ZNF133_ENST00000535822.1_Silent_p.L522L|ZNF133_ENST00000396026.3_Silent_p.L620L|ZNF133_ENST00000401790.1_Silent_p.L617L|ZNF133_ENST00000538547.1_Silent_p.L522L NM_001083330.1|NM_003434.4 NP_001076799.1|NP_003425.2 P52736 ZN133_HUMAN zinc finger protein 133 617 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 GCTTCAGCCTCAAGTCTCACC 0.567000 5 63 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38237809 38237809 + Nonsense_Mutation SNP C C A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr13:38237809C>A ENST00000379705.3 - 6 2289 c.1432G>T c.(1432-1434)Gag>Tag p.E478* TRPC4_ENST00000379681.3_Nonsense_Mutation_p.E478*|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.E478*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.E478*|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.E305*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.E478*|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.E478*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.E305* Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 478 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) AATAAAGCCTCTGCCACCAGA 0.443000 4 46 1 1 1 1 0 HSPD1 3329 broad.mit.edu 37 2 198352695 198352695 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:198352695C>T ENST00000388968.3 - 11 1723 c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K HSPD1_ENST00000345042.2_Missense_Mutation_p.E486K NM_002156.4 NP_002147.2 P10809 CH60_HUMAN heat shock 60kDa protein 1 (chaperonin) 486 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1) 17 Epithelial(96;0.225) AAAGATCCTTCAACACCTGCA 0.328000 9 13 0 0 1 0 0 SPCS3 60559 broad.mit.edu 37 4 177241299 177241299 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr4:177241299C>T ENST00000503362.1 + 1 185 c.72C>T c.(70-72)ttC>ttT p.F24F RP11-87F15.2_ENST00000512634.1_RNA NM_021928.3 NP_068747.1 P61009 SPCS3_HUMAN signal peptidase complex subunit 3 homolog (S. cerevisiae) 24 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity ovary(2) 2 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319) CGCTCACCTTCGGCTGCTTCA 0.657000 24 74 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142151666 142151666 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:142151666C>T ENST00000264951.4 - 2 262 c.145G>A c.(145-147)Gat>Aat p.D49N XRN1_ENST00000392981.2_Missense_Mutation_p.D49N|XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000463916.1_Missense_Mutation_p.D49N NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 49 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TGAACATCATCATCATTAGGA 0.333000 6 43 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52676070 52676070 + Splice_Site SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr13:52676070C>G ENST00000355568.4 - 11 1030 c.892_splice c.e11+1 p.Q297_splice NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 297 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) CACACTTACTCTGGACCACCT 0.428000 13 39 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128475487 128475487 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr7:128475487G>A ENST00000325888.8 + 2 721 c.460G>A c.(460-462)Gag>Aag p.E154K FLNC_ENST00000346177.6_Missense_Mutation_p.E154K NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 154 Actin-binding. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGAAGATGATGAGGATGCCCG 0.587000 36 90 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10622175 10622175 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr20:10622175G>C ENST00000254958.5 - 23 3364 c.2849C>G c.(2848-2850)tCt>tGt p.S950C JAG1_ENST00000423891.2_Missense_Mutation_p.S791C NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 950 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 ATAGGAGTCAGAGGTGCACTT 0.488000 Alagille Syndrome 30 95 0 0 1 0 0 SBF2 81846 broad.mit.edu 37 11 9871600 9871600 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:9871600G>C ENST00000256190.8 - 22 2913 c.2776C>G c.(2776-2778)Ctc>Gtc p.L926V RP11-1H15.2_ENST00000533659.1_RNA NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 926 GRAM. myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) CCTCTGAAGAGAATTCTGTAT 0.507000 26 83 0 0 1 0 0 OPRM1 4988 broad.mit.edu 37 6 154412513 154412513 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr6:154412513C>T ENST00000414028.2 + 3 1120 c.1070C>T c.(1069-1071)tCt>tTt p.S357F OPRM1_ENST00000452687.2_Missense_Mutation_p.S357F|OPRM1_ENST00000428397.2_Missense_Mutation_p.S357F|OPRM1_ENST00000518759.1_Missense_Mutation_p.S276F|OPRM1_ENST00000330432.7_Missense_Mutation_p.S357F|OPRM1_ENST00000524163.1_Missense_Mutation_p.S357F|OPRM1_ENST00000229768.5_Missense_Mutation_p.S357F|OPRM1_ENST00000522236.1_Missense_Mutation_p.S257F|OPRM1_ENST00000434900.2_Missense_Mutation_p.S450F|OPRM1_ENST00000522555.1_Missense_Mutation_p.S257F|OPRM1_ENST00000419506.2_Missense_Mutation_p.S357F|OPRM1_ENST00000435918.2_Missense_Mutation_p.S357F|OPRM1_ENST00000520708.1_Missense_Mutation_p.S257F|OPRM1_ENST00000360422.4_Missense_Mutation_p.S357F|OPRM1_ENST00000337049.4_Missense_Mutation_p.S357F NM_001145284.2 NP_001138756.1 P35372 OPRM_HUMAN opioid receptor, mu 1 357 behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) ATCCCAACCTCTTCCAACATT 0.453000 14 62 0 0 1 0 0 GRK7 131890 broad.mit.edu 37 3 141535592 141535592 + Silent SNP T T C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:141535592T>C ENST00000264952.2 + 4 1499 c.1362T>C c.(1360-1362)ttT>ttC p.F454F NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 454 Protein kinase. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 ATCATTTCTTTAAAACGATCA 0.423000 25 106 0 0 1 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94540770 94540770 + Missense_Mutation SNP G G A rs73423007 byFrequency TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr7:94540770G>A ENST00000289495.5 + 1 1561 c.1345G>A c.(1345-1347)Gaa>Aaa p.E449K PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E449K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E449K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E449K|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E449K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E449K NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 449 Interacts with protein phosphatase 1 (By similarity).|Poly-Glu. cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) GCCAGAAGAAGAAGAAATCCC 0.378000 HNSCC(28;0.073) 8 34 0 0 1 0 0 FAM167B 84734 broad.mit.edu 37 1 32713068 32713068 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:32713068G>A ENST00000373582.3 + 1 235 c.46G>A c.(46-48)Gag>Aag p.E16K NM_032648.2 NP_116037.2 Q9BTA0 F167B_HUMAN family with sequence similarity 167, member B 16 endometrium(1)|large_intestine(1)|lung(1)|ovary(2) 5 TGAAGAGGACGAGGAGGATGA 0.597000 21 93 0 0 1 0 0 GPR156 165829 broad.mit.edu 37 3 119892255 119892255 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:119892255G>A ENST00000464295.1 - 9 1441 c.996C>T c.(994-996)ttC>ttT p.F332F GPR156_ENST00000461057.1_Silent_p.F328F|GPR156_ENST00000315843.3_Silent_p.F332F Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 332 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) TGGGAGTGCTGAAATATTTGG 0.433000 22 112 0 0 1 0 0 TRPM5 29850 broad.mit.edu 37 11 2444157 2444157 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:2444157C>T ENST00000452833.1 - 1 118 c.110G>A c.(109-111)cGa>cAa p.R37Q TRPM5_ENST00000528453.1_Missense_Mutation_p.R37Q|TRPM5_ENST00000155858.6_Missense_Mutation_p.R37Q|TRPM5_ENST00000533060.1_Missense_Mutation_p.R37Q Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 37 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity p.R37P(1) breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) TACCTTGCCTCGCTTCTTCCC 0.657000 13 26 0 0 1 0 0 TRIM39-RPP21 202658 broad.mit.edu 37 6 30313141 30313141 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr6:30313141G>A ENST00000513556.1 + 7 907 c.907G>A c.(907-909)Gag>Aag p.E303K RPP21_ENST00000466327.1_3'UTR|RPP21_ENST00000442966.2_Missense_Mutation_p.E42K|RPP21_ENST00000436442.2_Missense_Mutation_p.E42K|RPP21_ENST00000428040.2_Missense_Mutation_p.E65K|RPP21_ENST00000433076.2_Missense_Mutation_p.E42K NM_001199119.1 NP_001186048.1 A6ZJ12 A6ZJ12_HUMAN 303 intracellular zinc ion binding CTGCTACACTGAGAGGACCAT 0.706000 10 35 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164739023 164739023 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:164739023C>T ENST00000264382.3 - 27 3310 c.3248G>A c.(3247-3249)aGa>aAa p.R1083K NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1083 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTACATGACTCTTCCACTGCT 0.348000 HNSCC(35;0.089) 24 83 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66766006 66766006 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chrX:66766006G>A ENST00000374690.3 + 1 1542 c.1018G>A c.(1018-1020)Gaa>Aaa p.E340K AR_ENST00000504326.1_Missense_Mutation_p.E340K|AR_ENST00000396044.3_Missense_Mutation_p.E340K|AR_ENST00000513847.1_3'UTR NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 338 Modulating. P -> L (in prostate cancer). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) CGGGACACTTGAACTGCCGTC 0.592000 Androgen Insensitivity Syndrome 18 22 0 0 1 0 0 SPATA33 124045 broad.mit.edu 37 16 89724669 89724669 + Missense_Mutation SNP G G C rs138527131 byFrequency TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr16:89724669G>C ENST00000301031.4 + 2 48 c.48G>C c.(46-48)aaG>aaC p.K16N SPATA33_ENST00000568929.1_5'UTR|SPATA33_ENST00000579310.1_Missense_Mutation_p.K17N NM_001271908.1|NM_153025.1 NP_001258837.1|NP_694570.1 spermatogenesis associated 33 AGGAGCAAAAGAAGGGATCCA 0.532000 19 68 0 0 1 0 0 CD207 50489 broad.mit.edu 37 2 71062641 71062641 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:71062641G>A ENST00000410009.3 - 2 216 c.171C>T c.(169-171)gtC>gtT p.V57V NM_015717.3 NP_056532.3 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 57 defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 CCTGCAGCAGGACGGAGGCGA 0.607000 8 28 0 0 1 0 0 LMO3 55885 broad.mit.edu 37 12 16713349 16713349 + Missense_Mutation SNP C C A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr12:16713349C>A ENST00000320122.6 - 3 852 c.330G>T c.(328-330)caG>caT p.Q110H LMO3_ENST00000534946.1_Missense_Mutation_p.Q110H|LMO3_ENST00000540848.1_Missense_Mutation_p.Q110H|LMO3_ENST00000447609.1_Missense_Mutation_p.Q110H|LMO3_ENST00000441439.2_Missense_Mutation_p.Q110H|LMO3_ENST00000354662.1_Missense_Mutation_p.Q110H|LMO3_ENST00000261169.6_Missense_Mutation_p.Q121H|LMO3_ENST00000541846.1_Missense_Mutation_p.Q110H|LMO3_ENST00000535535.1_Missense_Mutation_p.Q110H|LMO3_ENST00000541295.1_Missense_Mutation_p.Q128H|LMO3_ENST00000540445.1_Missense_Mutation_p.Q132H|LMO3_ENST00000537304.1_Missense_Mutation_p.Q110H NM_001243611.1 NP_001230540.1 Q8TAP4 LMO3_HUMAN LIM domain only 3 (rhombotin-like 2) 110 LIM zinc-binding 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent zinc ion binding endometrium(2)|large_intestine(2)|skin(1) 5 Hepatocellular(102;0.244) CTGCTTACCTCTGATTACAAA 0.418000 4 89 4.096e-09 4.34589e-09 1 1 0 CXXC1 30827 broad.mit.edu 37 18 47811132 47811132 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr18:47811132C>T ENST00000285106.6 - 8 1704 c.990G>A c.(988-990)gtG>gtA p.V330V CXXC1_ENST00000589940.1_Silent_p.V330V|CXXC1_ENST00000412036.2_Silent_p.V330V NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 330 Arg/Lys-rich (basic). histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 cccGACGCTTCACATGCTTCA 0.582000 9 22 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93773781 93773781 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr10:93773781C>T ENST00000265990.6 + 32 4887 c.4579C>T c.(4579-4581)Ctc>Ttc p.L1527F BTAF1_ENST00000544642.1_Missense_Mutation_p.L355F NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1527 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) TCTTAGTCCTCTCCAGGTTAG 0.363000 18 102 0 0 1 0 0 CDYL 9425 broad.mit.edu 37 6 4891958 4891958 + Silent SNP T T C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr6:4891958T>C ENST00000328908.5 + 4 329 c.198T>C c.(196-198)atT>atC p.I66I CDYL_ENST00000343762.5_5'UTR|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000397588.3_Silent_p.I12I Q9Y232 CDYL1_HUMAN chromodomain protein, Y-like 66 Chromo. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1) 30 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) TTGAAAGGATTGTTGACAAAA 0.378000 24 38 0 0 1 0 0 BTBD8 284697 broad.mit.edu 37 1 92612785 92612785 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:92612785C>T ENST00000342818.3 + 8 1215 c.979C>T c.(979-981)Cat>Tat p.H327Y BTBD8_ENST00000540648.1_3'UTR NM_183242.3 NP_899065.2 Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 327 nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1) 16 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) GATTATTGCTCATTCAGTTGG 0.338000 15 60 0 0 1 0 0 KBTBD7 84078 broad.mit.edu 37 13 41767771 41767771 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr13:41767771G>A ENST00000379483.3 - 1 931 c.623C>T c.(622-624)tCa>tTa p.S208L NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 208 protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) CTCCCGAATTGAACCCATTCG 0.542000 26 88 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53726170 53726170 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr16:53726170C>T ENST00000262135.4 - 4 430 c.337G>A c.(337-339)Gag>Aag p.E113K RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E113K|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E113K|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E113K NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 113 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) TGCAGCTGCTCAATCATTTCT 0.448000 47 163 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8460493 8460493 + Nonsense_Mutation SNP C C A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr9:8460493C>A ENST00000381196.4 - 30 4336 c.3793G>T c.(3793-3795)Gaa>Taa p.E1265* PTPRD_ENST00000360074.4_Nonsense_Mutation_p.E1252*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.E1265*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.E851*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.E1243*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.E854*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.E1265*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.E854*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.E844*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.E851*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.E844* NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1265 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ATCAAGCCTTCTTCTTCATCC 0.453000 TSP Lung(15;0.13) 26 78 1.42536e-11 1.53264e-11 1 1 0 DPYSL4 10570 broad.mit.edu 37 10 134006300 134006300 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr10:134006300C>G ENST00000338492.4 + 3 431 c.267C>G c.(265-267)ttC>ttG p.F89L DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_Missense_Mutation_p.F12L|DPYSL4_ENST00000368629.1_Missense_Mutation_p.F12L NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 89 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) CTGACGACTTCTGTCAGGGCA 0.622000 20 54 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 304659 304659 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr9:304659G>A ENST00000432829.2 + 5 595 c.279G>A c.(277-279)caG>caA p.Q93Q DOCK8_ENST00000453981.1_Silent_p.Q161Q|DOCK8_ENST00000469391.1_Silent_p.Q93Q NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 161 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TTCCGAAACAGACGTTTGAGT 0.443000 10 194 0 0 1 0 0 DEFB114 245928 broad.mit.edu 37 6 49928037 49928037 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr6:49928037C>G ENST00000322066.3 - 2 177 c.178G>C c.(178-180)Gag>Cag p.E60Q NM_001037499.1 NP_001032588.1 Q30KQ6 DB114_HUMAN defensin, beta 114 60 defense response to bacterium extracellular region kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Lung NSC(77;0.042) TACAATTTCTCAGTGCAGCAA 0.378000 6 20 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10303815 10303815 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr17:10303815C>G ENST00000403437.2 - 27 3721 c.3627G>C c.(3625-3627)caG>caC p.Q1209H CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1209 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 AGTTGTCAATCTGCTCCCCAA 0.552000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 20 80 0 0 1 0 0 GRWD1 83743 broad.mit.edu 37 19 48950050 48950050 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:48950050C>G ENST00000253237.5 + 3 651 c.418C>G c.(418-420)Cag>Gag p.Q140E NM_031485.3 NP_113673.3 Q9BQ67 GRWD1_HUMAN glutamate-rich WD repeat containing 1 140 nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1) 19 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222) GCGGAAACCTCAGCTGGAGCT 0.542000 28 43 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106093309 106093309 + Missense_Mutation SNP A A T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chrX:106093309A>T ENST00000357242.5 + 12 2066 c.1892A>T c.(1891-1893)cAg>cTg p.Q631L TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Q625L NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 631 Rab-GAP TBC. intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CACCTTCCTCAGCTGACAGAA 0.378000 18 23 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80789586 80789586 + Nonsense_Mutation SNP C C A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr17:80789586C>A ENST00000269394.3 - 2 1578 c.745G>T c.(745-747)Gag>Tag p.E249* TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 249 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGCCCGTGCTCTGTGTAAAAG 0.567000 53 52 1.48341e-19 1.62121e-19 1 1 0 SIX5 147912 broad.mit.edu 37 19 46269022 46269022 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:46269022C>G ENST00000317578.6 - 3 2338 c.1957G>C c.(1957-1959)Gag>Cag p.E653Q AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR NM_175875.4 NP_787071.2 Q8N196 SIX5_HUMAN SIX homeobox 5 653 cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235) ATCAGCCCCTCTGGTGGGGGC 0.692000 7 81 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197427940 197427940 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:197427940C>G ENST00000273582.5 - 7 1170 c.625G>C c.(625-627)Gag>Cag p.E209Q KIAA0226_ENST00000389665.5_Missense_Mutation_p.E269Q|KIAA0226_ENST00000296343.5_Missense_Mutation_p.E269Q|KIAA0226_ENST00000449205.1_Missense_Mutation_p.E269Q NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 269 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) GTTTGATCCTCTGCTGGTGAG 0.512000 4 123 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77755125 77755125 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr7:77755125C>T ENST00000354212.4 - 20 3706 c.3453G>A c.(3451-3453)gaG>gaA p.E1151E MAGI2_ENST00000522391.1_Silent_p.E1151E|MAGI2_ENST00000419488.1_Silent_p.E1137E NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1151 PDZ 6. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGGCTCCTTTCTCCATGTCCA 0.403000 12 39 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22929869 22929869 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr15:22929869G>A ENST00000313077.7 + 6 668 c.543G>A c.(541-543)gtG>gtA p.V181V CYFIP1_ENST00000560848.1_Silent_p.V181V NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 181 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) AGTGCAGTGTGAAGAACGACC 0.577000 10 55 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124371872 124371872 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr8:124371872C>T ENST00000287394.5 - 10 1318 c.1211G>A c.(1210-1212)cGa>cAa p.R404Q ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) AATTTTCATTCGATCTTTATA 0.353000 7 36 0 0 1 0 0 SERTAD2 9792 broad.mit.edu 37 2 64863799 64863799 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:64863799C>G ENST00000313349.3 - 2 504 c.207G>C c.(205-207)ttG>ttC p.L69F SERTAD2_ENST00000476805.1_5'UTR NM_014755.2 NP_055570.1 Q14140 SRTD2_HUMAN SERTA domain containing 2 69 SERTA. negative regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleus breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1) 12 GGATCCGCCTCAACATGTTGT 0.542000 18 86 0 0 1 0 0 DSN1 79980 broad.mit.edu 37 20 35381261 35381261 + Missense_Mutation SNP C C T rs143517734 by1000genomes TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr20:35381261C>T ENST00000426836.1 - 11 1373 c.1001G>A c.(1000-1002)cGa>cAa p.R334Q DSN1_ENST00000448110.1_Missense_Mutation_p.R318Q|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373745.3_Missense_Mutation_p.R334Q|DSN1_ENST00000373740.3_Missense_Mutation_p.R262Q|DSN1_ENST00000373750.4_Missense_Mutation_p.R334Q|DSN1_ENST00000373734.4_Missense_Mutation_p.R227Q NM_001145316.1 NP_001138788.1 Q9H410 DSN1_HUMAN DSN1, MIS12 kinetochore complex component 334 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 16 Myeloproliferative disorder(115;0.00874) CAACAGTTTTCGAGCTGGTGA 0.408000 15 89 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32089962 32089962 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr5:32089962C>T ENST00000438447.1 + 20 6796 c.6408C>T c.(6406-6408)gtC>gtT p.V2136V PDZD2_ENST00000282493.3_Silent_p.V2136V O15018 PDZD2_HUMAN PDZ domain containing 2 2136 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ATCGCCAGGTCGCAGAATCAT 0.542000 23 92 0 0 1 0 0 SLC25A44 9673 broad.mit.edu 37 1 156180047 156180047 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:156180047C>T ENST00000359511.4 + 4 942 c.770C>T c.(769-771)tCc>tTc p.S257F SLC25A44_ENST00000423538.2_Missense_Mutation_p.S234F|SLC25A44_ENST00000469537.1_3'UTR NM_014655.2 NP_055470.1 Q96H78 S2544_HUMAN solute carrier family 25, member 44 257 transmembrane transport integral to membrane|mitochondrial inner membrane binding breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Hepatocellular(266;0.158) GGCAAGAACTCCATCATCCTG 0.547000 36 62 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41903701 41903701 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr12:41903701G>A ENST00000298919.7 + 5 797 c.409G>A c.(409-411)Gac>Aac p.D137N PDZRN4_ENST00000402685.2_Missense_Mutation_p.D397N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.D139N Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 397 Gly-rich. ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CAGAACAGAAGACTTTGAATA 0.373000 10 56 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116593750 116593750 + Silent SNP T T C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:116593750T>C ENST00000410059.1 + 22 2448 c.1968T>C c.(1966-1968)atT>atC p.I656I DPP10_ENST00000409163.1_Silent_p.I606I|DPP10_ENST00000310323.8_Silent_p.I649I|DPP10_ENST00000393147.2_Silent_p.I660I NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 656 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 GTGGCTATATTGCATCAATGA 0.333000 10 27 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41572777 41572777 + Splice_Site SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr22:41572777G>C ENST00000263253.7 + 31 6281 c.5061_splice c.e31-1 p.D1688_splice RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1688 Binding region for E1A adenovirus. 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 TTTTCCCTAGGATTATGACTT 0.403000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 32 100 0 0 1 0 0 CCDC89 220388 broad.mit.edu 37 11 85396555 85396555 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:85396555G>A ENST00000316398.3 - 1 765 c.619C>T c.(619-621)Cgc>Tgc p.R207C NM_152723.1 NP_689936.1 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 207 cytoplasm|nucleus NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 15 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TCCTTCTCGCGCGCCTGTGCC 0.617000 23 119 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237774148 237774148 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:237774148C>T ENST00000366574.2 + 36 5087 c.4770C>T c.(4768-4770)ttC>ttT p.F1590F RYR2_ENST00000542537.1_Silent_p.F1574F|RYR2_ENST00000360064.6_Silent_p.F1588F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1590 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACGTGCAGTTCCTGTCACACG 0.557000 11 20 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207172263 207172263 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:207172263C>G ENST00000374423.3 + 5 3397 c.3011C>G c.(3010-3012)tCt>tGt p.S1004C NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1004 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AGTTTAGATTCTGGTGTCCCT 0.343000 12 57 0 0 1 0 0 EPAS1 2034 broad.mit.edu 37 2 46609636 46609636 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:46609636C>G ENST00000263734.3 + 15 2870 c.2360C>G c.(2359-2361)tCt>tGt p.S787C NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 787 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) CAGCCTCCATCTGCCATCAGT 0.592000 5 141 0 0 1 0 0 CPSF2 53981 broad.mit.edu 37 14 92600486 92600486 + Missense_Mutation SNP G G T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr14:92600486G>T ENST00000298875.4 + 4 566 c.281G>T c.(280-282)gGa>gTa p.G94V NM_017437.2 NP_059133.1 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2, 100kDa 94 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 24 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) TATAAAATGGGACAGATGTTC 0.383000 19 64 2.94398e-08 3.10711e-08 1 1 0 AC079210.1 0 broad.mit.edu 37 17 66539808 66539808 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr17:66539808C>G ENST00000600820.1 + 1 440 c.67C>G c.(67-69)Ctg>Gtg p.L23V PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000592554.1_Missense_Mutation_p.Q258H|FAM20A_ENST00000226094.5_5'UTR CATTGTGTCTCTGAAAGTCAA 0.537000 6 97 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120797938 120797938 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr10:120797938C>T ENST00000369144.3 - 20 3667 c.3540G>A c.(3538-3540)gaG>gaA p.E1180E EIF3A_ENST00000541549.1_Silent_p.E1146E|EIF3A_ENST00000478852.1_Intron NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 1180 Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CTTTTTCTTTCTCTCTCCATC 0.378000 26 120 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42041232 42041232 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:42041232G>A ENST00000372584.1 - 4 6204 c.5190C>T c.(5188-5190)atC>atT p.I1730I HIVEP3_ENST00000372583.1_Silent_p.I1730I|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Silent_p.I1730I|HIVEP3_ENST00000247584.5_Silent_p.I1730I NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1730 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CGAAGATTTTGATCCTCGCCG 0.557000 55 303 0 0 1 0 0 PTGER4 5734 broad.mit.edu 37 5 40681938 40681938 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr5:40681938G>A ENST00000302472.3 + 2 1867 c.843G>A c.(841-843)gtG>gtA p.V281V NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 281 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CCCTGGTGGTGCTCATCTGCT 0.667000 4 73 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40078504 40078504 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr22:40078504G>A ENST00000336649.4 + 38 5686 c.5686G>A c.(5686-5688)Gag>Aag p.E1896K CACNA1I_ENST00000404898.1_Missense_Mutation_p.E1855K|CACNA1I_ENST00000402142.3_Missense_Mutation_p.E1890K|CACNA1I_ENST00000400164.3_Missense_Mutation_p.E1855K|CACNA1I_ENST00000401624.1_Missense_Mutation_p.E1890K|CACNA1I_ENST00000407673.1_Missense_Mutation_p.E1855K Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1890 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CTTGCAGGGTGAGCTGGACCC 0.607000 14 82 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24431971 24431971 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:24431971C>T ENST00000355123.4 - 36 5036 c.4593G>A c.(4591-4593)gaG>gaA p.E1531E ITSN2_ENST00000361999.3_Silent_p.E1504E NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 1531 PH. 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) GGACTGACCTCTCATTAATGT 0.547000 7 36 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30495277 30495277 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr16:30495277C>T ENST00000356798.6 + 8 1032 c.852C>T c.(850-852)atC>atT p.I284I ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.I201I|RP11-297C4.2_ENST00000569459.1_RNA NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 284 VWFA. blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GCTACATCATCGGGGTAGGGC 0.547000 46 178 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023111 18023111 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr17:18023111G>A ENST00000205890.5 + 2 1335 c.997G>A c.(997-999)Gag>Aag p.E333K NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 333 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CGATGGGTACGAGGGCGAGGC 0.602000 38 119 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13758984 13758984 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr5:13758984C>G ENST00000265104.4 - 61 10494 c.10390G>C c.(10390-10392)Gag>Cag p.E3464Q NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3464 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGTTCATACTCAGCCTGCACC 0.537000 Kartagener syndrome 35 114 0 0 1 0 0 COPG1 22820 broad.mit.edu 37 3 128979521 128979521 + Silent SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:128979521C>G ENST00000314797.6 + 12 1103 c.999C>G c.(997-999)gtC>gtG p.V333V NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 333 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity AGAACCTGGTCACAGATTCAA 0.552000 6 94 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3632371 3632371 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr16:3632371C>T ENST00000294008.3 - 15 6117 c.5477G>A c.(5476-5478)cGg>cAg p.R1826Q RP11-461A8.1_ENST00000573982.1_lincRNA NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1826 Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CTTCTTGCCCCGAGGCTGCCG 0.667000 Direct reversal of damage 25 88 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147869528 147869528 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr7:147869528G>A ENST00000361727.3 + 18 3484 c.2968G>A c.(2968-2970)Gat>Aat p.D990N CNTNAP2_ENST00000538075.1_Missense_Mutation_p.D49N NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 990 EGF-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.D990N(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TTACTCCTGCGATTGCTCTAA 0.453000 HNSCC(39;0.1) 20 87 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111695940 111695940 + Missense_Mutation SNP C C G rs35802572 TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr6:111695940C>G ENST00000435970.1 - 15 4200 c.3384G>C c.(3382-3384)aaG>aaC p.K1128N REV3L_ENST00000358835.3_Missense_Mutation_p.K1206N|REV3L_ENST00000368805.1_Missense_Mutation_p.K1206N|REV3L_ENST00000368802.3_Missense_Mutation_p.K1206N O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1206 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CTCTTGGTTTCTTTTTTCCAT 0.323000 DNA polymerases (catalytic subunits) 6 35 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43411138 43411138 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr21:43411138C>T ENST00000310826.5 - 3 3250 c.3067G>A c.(3067-3069)Gaa>Aaa p.E1023K ZBTB21_ENST00000398499.1_Missense_Mutation_p.E1023K|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E1023K|ZBTB21_ENST00000398505.3_Missense_Mutation_p.E822K NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 GTGTCTGATTCTTGGGGCACA 0.498000 16 58 0 0 1 0 0 SRGAP2-AS1 100873165 broad.mit.edu 37 1 121115981 121115981 + RNA SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:121115981C>T ENST00000437515.1 - 0 329 CCACGGCCAACGTTCGCATTG 0.527000 3 11 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125865695 125865695 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:125865695C>T ENST00000393434.2 - 9 1408 c.1059G>A c.(1057-1059)gcG>gcA p.A353A ALDH1L1_ENST00000393431.2_Silent_p.A353A|ALDH1L1_ENST00000273450.3_Silent_p.A363A|ALDH1L1_ENST00000472186.1_Silent_p.A353A|ALDH1L1_ENST00000452905.2_Silent_p.A252A NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 353 Acyl carrier. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CGTCCACAGACGCGGCCCCTG 0.542000 5 55 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31599388 31599388 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr18:31599388G>A ENST00000261592.5 - 6 1247 c.950C>T c.(949-951)tCg>tTg p.S317L NOL4_ENST00000269185.4_Missense_Mutation_p.S203L|NOL4_ENST00000538587.1_Missense_Mutation_p.S243L|NOL4_ENST00000535384.1_Missense_Mutation_p.S32L|NOL4_ENST00000535475.1_Missense_Mutation_p.S162L|NOL4_ENST00000589544.1_Missense_Mutation_p.S317L NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 317 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TCTGTATTCCGAAGTTAGCTG 0.458000 5 55 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533550 533550 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:533550C>T ENST00000417302.1 - 4 540 c.353G>A c.(352-354)tGt>tAt p.C118Y HRAS_ENST00000397596.2_Missense_Mutation_p.C118Y|HRAS_ENST00000311189.7_Missense_Mutation_p.C118Y|HRAS_ENST00000397594.1_Missense_Mutation_p.C118Y|HRAS_ENST00000451590.1_Missense_Mutation_p.C118Y NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 118 activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) AGCCAGGTCACACTTGTTCCC 0.632000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 45 103 0 0 1 0 0 SAMD8 142891 broad.mit.edu 37 10 76928320 76928320 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr10:76928320C>T ENST00000542569.1 + 4 799 c.696C>T c.(694-696)ctC>ctT p.L232L SAMD8_ENST00000372690.3_Silent_p.L295L|SAMD8_ENST00000372687.3_Silent_p.L232L NM_001174156.1|NM_144660.2 NP_001167627.1|NP_653261.1 Q96LT4 SAMD8_HUMAN sterile alpha motif domain containing 8 232 sphingomyelin biosynthetic process integral to membrane NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 12 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) TGCGAAGGCTCTGTAGTCTGA 0.448000 5 169 0 0 1 0 0 RYK 6259 broad.mit.edu 37 3 133878181 133878181 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:133878181G>C ENST00000427044.2 - 15 1655 c.1045C>G c.(1045-1047)Ctg>Gtg p.L349V RYK_ENST00000296084.4_Missense_Mutation_p.L539V P34925 RYK_HUMAN receptor-like tyrosine kinase 535 Protein kinase. corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway cytoplasm|integral to plasma membrane|nucleus ATP binding|transmembrane receptor protein tyrosine kinase activity p.L539V(1) lung(1)|ovary(3) 4 GTCTGGCCCAGAGTCATGAGT 0.522000 10 47 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179582510 179582510 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:179582510C>G ENST00000589042.1 - 87 25315 c.25091G>C c.(25090-25092)aGa>aCa p.R8364T TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R7120T|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R8047T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8047 Ig-like 66. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCAGTTTTCTTGCAAAGAA 0.413000 7 26 0 0 1 0 0 TMEM248 55069 broad.mit.edu 37 7 66418288 66418288 + Missense_Mutation SNP T T C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr7:66418288T>C ENST00000341567.4 + 6 1111 c.856T>C c.(856-858)Tgc>Cgc p.C286R NM_017994.4 NP_060464.1 transmembrane protein 248 AACAATGTTTTGCTATGCTGT 0.423000 22 94 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105414321 105414321 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr14:105414321C>T ENST00000333244.5 - 7 7586 c.7467G>A c.(7465-7467)aaG>aaA p.K2489K AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2489 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ATGACGGCATCTTGAACTTGG 0.612000 63 336 0 0 1 0 0 NUDT16L1 84309 broad.mit.edu 37 16 4744970 4744970 + Missense_Mutation SNP C C T rs149968687 TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr16:4744970C>T ENST00000586536.1 + 3 516 c.496C>T c.(496-498)Cgt>Tgt p.R166C NUDT16L1_ENST00000586252.1_Intron|NUDT16L1_ENST00000405142.1_3'UTR|NUDT16L1_ENST00000304301.6_Silent_p.L142L NM_001193452.1 NP_001180381.1 Q9BRJ7 SDOS_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1 0 Interaction with PXN (By similarity). cytoplasm hydrolase activity endometrium(1)|large_intestine(1)|lung(1)|skin(1) 4 TGCTGGGCCTCGTGCGGGTCC 0.647000 6 16 0 0 1 0 0 ZNF700 90592 broad.mit.edu 37 19 12060248 12060248 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:12060248G>C ENST00000482090.1 + 3 1773 c.1355G>C c.(1354-1356)gGa>gCa p.G452A CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.G470A|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron Q9H0M5 ZN700_HUMAN zinc finger protein 700 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 ACTCATACTGGAGAGAAACCC 0.443000 17 50 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43846349 43846349 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr12:43846349G>A ENST00000389420.3 - 13 1909 c.1910C>T c.(1909-1911)tCt>tTt p.S637F ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S637F NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 637 Cys-rich. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CCTCACATTAGAGGGAATGCC 0.373000 6 33 0 0 1 0 0 EFNB3 1949 broad.mit.edu 37 17 7612627 7612627 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr17:7612627G>A ENST00000226091.2 + 5 1153 c.756G>A c.(754-756)cgG>cgA p.R252R NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 252 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) TGTGTTGGCGGAGACGGCGGG 0.726000 5 19 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6167819 6167819 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr6:6167819C>T ENST00000264870.3 - 13 2045 c.1780G>A c.(1780-1782)Gag>Aag p.E594K NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 594 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CCCATGTACTCGCCGGCTTGG 0.522000 10 29 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35704682 35704682 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr5:35704682C>G ENST00000440995.2 + 17 2410 c.2410C>G c.(2410-2412)Cac>Gac p.H804D CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.H809D|SPEF2_ENST00000509059.1_Missense_Mutation_p.H804D Q9C093 SPEF2_HUMAN sperm flagellar 2 809 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TAAAACTGCTCACGAAGATAT 0.313000 10 38 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49965527 49965527 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chrX:49965527G>C ENST00000358526.2 - 1 137 c.14C>G c.(13-15)tCt>tGt p.S5C AKAP4_ENST00000376056.2_5'UTR|AKAP4_ENST00000376058.2_5'UTR NM_003886.2 NP_003877.2 Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 5 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) TGTAGTATCAGAGTACGCCAT 0.443000 20 43 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170819360 170819360 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:170819360C>G ENST00000436636.2 - 22 2813 c.2469G>C c.(2467-2469)atG>atC p.M823I TNIK_ENST00000470834.1_Missense_Mutation_p.M786I|TNIK_ENST00000475336.1_Missense_Mutation_p.M731I|TNIK_ENST00000341852.6_Missense_Mutation_p.M739I|TNIK_ENST00000460047.1_Missense_Mutation_p.M760I|TNIK_ENST00000488470.1_Missense_Mutation_p.M768I|TNIK_ENST00000538048.1_Missense_Mutation_p.M775I|TNIK_ENST00000369326.5_Missense_Mutation_p.M801I|TNIK_ENST00000357327.5_Missense_Mutation_p.M794I|TNIK_ENST00000284483.8_Missense_Mutation_p.M815I NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 823 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TCACCTTCTTCATTGGGCGGT 0.468000 27 173 0 0 1 0 0 TUBG2 27175 broad.mit.edu 37 17 40817761 40817761 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr17:40817761C>T ENST00000251412.7 + 8 958 c.759C>T c.(757-759)ctC>ctT p.L253L NM_016437.2 NP_057521.1 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 253 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) ACAATGACCTCATCGGCCTCA 0.622000 57 189 0 0 1 0 0 RRM1 6240 broad.mit.edu 37 11 4142861 4142861 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:4142861G>C ENST00000300738.5 + 10 1108 c.904G>C c.(904-906)Gag>Cag p.E302Q RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000423050.2_Missense_Mutation_p.E205Q|RRM1_ENST00000537197.1_5'UTR|RRM1_ENST00000534285.1_Missense_Mutation_p.E80Q NM_001033.3 NP_001024.1 P23921 RIR1_HUMAN ribonucleotide reductase M1 302 deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) TATTTACCTGGAGCCTTGGCA 0.388000 14 38 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71021784 71021784 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:71021784C>T ENST00000318789.4 - 18 2099 c.1574G>A c.(1573-1575)cGa>cAa p.R525Q FOXP1_ENST00000498215.1_Missense_Mutation_p.R525Q|FOXP1_ENST00000484350.1_Missense_Mutation_p.R449Q|FOXP1_ENST00000475937.1_Missense_Mutation_p.R525Q|FOXP1_ENST00000493089.1_Missense_Mutation_p.R524Q|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000491238.1_Missense_Mutation_p.R527Q NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 525 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GTTTTCTACTCGCACAAAACA 0.388000 T PAX5 ALL 9 51 0 0 1 0 0 HDAC3 8841 broad.mit.edu 37 5 141008863 141008863 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr5:141008863G>A ENST00000305264.3 - 7 566 c.487C>T c.(487-489)Cgg>Tgg p.R163W NM_003883.3 NP_003874.2 O15379 HDAC3_HUMAN histone deacetylase 3 163 Histone deacetylase. anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) TAGAGCACCCGAGGGTGGTAC 0.537000 6 63 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101828953 101828953 + Missense_Mutation SNP G G T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:101828953G>T ENST00000263468.8 + 5 831 c.561G>T c.(559-561)caG>caT p.Q187H KIAA1377_ENST00000537689.1_5'UTR NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 187 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) ACAAGCATCAGAAACAACTCT 0.358000 50 213 2.52991e-16 2.75739e-16 1 1 0 ZMIZ1 57178 broad.mit.edu 37 10 81072426 81072426 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr10:81072426G>A ENST00000334512.5 + 25 3696 c.3124G>A c.(3124-3126)Gag>Aag p.E1042K ZMIZ1_ENST00000446377.2_Missense_Mutation_p.E108K NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1042 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) AAATCCTGACGAGCTCCTGTC 0.567000 48 217 0 0 1 0 0 HIAT1 64645 broad.mit.edu 37 1 100546054 100546054 + Missense_Mutation SNP G G T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:100546054G>T ENST00000370152.3 + 11 1241 c.1105G>T c.(1105-1107)Gtc>Ttc p.V369F RP4-714D9.2_ENST00000432294.1_RNA NM_033055.2 NP_149044.2 Q96MC6 HIAT1_HUMAN hippocampus abundant transcript 1 369 transmembrane transport integral to membrane|plasma membrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) CAATGTAGGTGTCGTTCAAGG 0.348000 24 90 6.44725e-10 6.87707e-10 1 1 0 RPL22 6146 broad.mit.edu 37 1 6253099 6253099 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:6253099C>T ENST00000234875.4 - 3 171 c.133G>A c.(133-135)Gaa>Aaa p.E45K RPL22_ENST00000497965.1_Missense_Mutation_p.E12K|RPL22_ENST00000484532.1_Missense_Mutation_p.E12K NM_000983.3 NP_000974.1 P35268 RL22_HUMAN ribosomal protein L22 45 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit heparin binding|RNA binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 Ovarian(185;0.0634) all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) TTGATCCTTTCTTGCAAAAAC 0.438000 T RUNX1 """AML, CML""" 24 72 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A rs121913287 TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:178916876G>A ENST00000263967.3 + 2 420 c.263G>A c.(262-264)cGa>cAa p.R88Q NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 88 PI3K-ABD. R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R88Q(53) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAACAAGACGACTTTGTGAC 0.363000 R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 40 100 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7673616 7673616 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr17:7673616G>C ENST00000572933.1 + 25 5448 c.3988G>C c.(3988-3990)Gaa>Caa p.E1330Q DNAH2_ENST00000389173.2_Missense_Mutation_p.E1330Q Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1330 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GTTTGATCAGGAATCTGAAAG 0.532000 9 68 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62294856 62294856 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:62294856C>G ENST00000378024.4 - 5 7307 c.7033G>C c.(7033-7035)Gaa>Caa p.E2345Q AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2345 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ACATCCAATTCTGGACCTTTT 0.443000 38 153 0 0 1 0 0 CYP3A43 64816 broad.mit.edu 37 7 99445814 99445814 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr7:99445814G>C ENST00000354829.2 + 6 561 c.458G>C c.(457-459)gGa>gCa p.G153A CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000312017.5_Missense_Mutation_p.G153A|CYP3A43_ENST00000342499.4_Missense_Mutation_p.W15C|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.G153A|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000417625.1_Intron NM_022820.3|NM_057095.1 NP_073731.1|NP_476436.1 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 153 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) TCCCAATGTGGAGATATGTTG 0.473000 6 33 0 0 1 0 0 OR7G3 390883 broad.mit.edu 37 19 9237262 9237262 + Missense_Mutation SNP C C G rs144765135 TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:9237262C>G ENST00000305444.2 - 1 364 c.365G>C c.(364-366)cGa>cCa p.R122P NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 GGCCACAAATCGATCATAGGC 0.473000 16 103 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86280055 86280055 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:86280055G>A ENST00000263857.6 - 16 2655 c.2277C>T c.(2275-2277)taC>taT p.Y759Y POLR1A_ENST00000409681.1_Silent_p.Y759Y O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 759 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GGACCAGGCCGTAGGCGGAGC 0.627000 13 25 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48800551 48800551 + Silent SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:48800551G>C ENST00000315396.7 - 14 2377 c.1695C>G c.(1693-1695)ctC>ctG p.L565L NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 565 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) TGCTGGAGCTGAGGCCGCCAA 0.642000 24 60 0 0 1 0 0 MTBP 27085 broad.mit.edu 37 8 121528214 121528214 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr8:121528214G>A ENST00000305949.1 + 18 2074 c.2029G>A c.(2029-2031)Gaa>Aaa p.E677K NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 677 Interaction with MDM2 (By similarity). cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) AGGATTTTCTGAACTTCAGTC 0.403000 22 39 0 0 1 0 0 CD177 57126 broad.mit.edu 37 19 43866475 43866475 + RNA SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:43866475C>G ENST00000378009.4 + 0 1478 CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) CCTGCTAACTCTATTACCCCC 0.592000 3 10 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 96030304 96030304 + Missense_Mutation SNP C C G rs121912605 TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr10:96030304C>G ENST00000260766.3 + 18 5085 c.4451C>G c.(4450-4452)tCg>tGg p.S1484W PLCE1_ENST00000371375.1_Missense_Mutation_p.S1176W|PLCE1_ENST00000371380.2_Missense_Mutation_p.S1484W|PLCE1_ENST00000371385.3_Missense_Mutation_p.S1176W NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1484 PI-PLC X-box. S -> L (in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis). activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) ATCATCATATCGATTGAGAAC 0.438000 17 64 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49652942 49652942 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:49652942C>T ENST00000334186.4 + 28 3842 c.3493C>T c.(3493-3495)Ccg>Tcg p.P1165S PPFIA3_ENST00000602351.1_Missense_Mutation_p.P1156S NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 1165 cell surface|cytoplasm protein binding p.G1160fs*>21(2) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) CCTGGGCTCTCCGGGGCTCCC 0.642000 5 39 0 0 1 0 0 ARSE 415 broad.mit.edu 37 X 2854807 2854807 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chrX:2854807C>T ENST00000545496.1 - 11 1753 c.1462G>A c.(1462-1464)Gca>Aca p.A488T ARSE_ENST00000540563.1_Missense_Mutation_p.A418T|ARSE_ENST00000381134.3_Missense_Mutation_p.A463T P51690 ARSE_HUMAN arylsulfatase E (chondrodysplasia punctata 1) 463 skeletal system development Golgi stack arylsulfatase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CACCTGGCTGCGTGCAGAAAC 0.557000 11 7 0 0 1 0 0 RNASE3 6037 broad.mit.edu 37 14 21360228 21360228 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr14:21360228G>C ENST00000304639.3 + 2 441 c.383G>C c.(382-384)aGa>aCa p.R128T NM_002935.2 NP_002926.2 P12724 ECP_HUMAN ribonuclease, RNase A family, 3 128 defense response to bacterium|RNA catabolic process extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1) 9 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) TATGCAGACAGACCAGGAAGG 0.473000 22 62 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7982421 7982421 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:7982421G>A ENST00000328600.2 - 2 899 c.738C>T c.(736-738)ttC>ttT p.F246F NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 246 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CATCCAGGATGAACAGGAGCC 0.537000 4 63 0 0 1 0 0 FCHO2 115548 broad.mit.edu 37 5 72311471 72311471 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr5:72311471G>A ENST00000430046.2 + 7 735 c.619G>A c.(619-621)Gaa>Aaa p.E207K FCHO2_ENST00000512348.1_Intron|FCHO2_ENST00000341845.6_Missense_Mutation_p.E207K|FCHO2_ENST00000287761.6_Missense_Mutation_p.E207K NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 207 cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) AGATATTGAAGAAACTCATCT 0.289000 5 29 0 0 1 0 0 NEDD9 4739 broad.mit.edu 37 6 11213618 11213618 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr6:11213618G>C ENST00000379446.5 - 2 521 c.355C>G c.(355-357)Caa>Gaa p.Q119E NEDD9_ENST00000504387.1_Missense_Mutation_p.Q119E|RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000379433.5_Missense_Mutation_p.Q119E NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 119 Interacts strongly with spindle- regulatory protein D1M1. actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) GTGGGGACTTGGTAAATTCCC 0.547000 10 158 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24432036 24432036 + Nonsense_Mutation SNP C C A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:24432036C>A ENST00000355123.4 - 36 4971 c.4528G>T c.(4528-4530)Gag>Tag p.E1510* ITSN2_ENST00000361999.3_Nonsense_Mutation_p.E1483* NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 1510 PH. 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) AAGACAGGCTCATCGCTGGAA 0.502000 6 49 8.12818e-05 8.31528e-05 1 1 0 HIVEP3 59269 broad.mit.edu 37 1 42047722 42047722 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:42047722G>A ENST00000372584.1 - 3 3761 c.2747C>T c.(2746-2748)tCa>tTa p.S916L HIVEP3_ENST00000372583.1_Missense_Mutation_p.S916L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S916L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S916L NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 916 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CTCCCCTGATGATTGGGCCAT 0.597000 39 200 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142658159 142658159 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr7:142658159G>A ENST00000355265.2 - 4 730 c.256C>T c.(256-258)Cgg>Tgg p.R86W KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 86 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) TAATGATCCCGGAGATCCAAA 0.542000 15 66 0 0 1 0 0 YY1AP1 55249 broad.mit.edu 37 1 155642519 155642519 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:155642519C>G ENST00000368340.5 - 6 937 c.829G>C c.(829-831)Gag>Cag p.E277Q YY1AP1_ENST00000295566.4_Missense_Mutation_p.E205Q|YY1AP1_ENST00000355499.4_Missense_Mutation_p.E139Q|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.E128Q|YY1AP1_ENST00000535662.1_Missense_Mutation_p.E5Q|YY1AP1_ENST00000438245.2_Missense_Mutation_p.E139Q|YY1AP1_ENST00000359205.5_Missense_Mutation_p.E128Q|YY1AP1_ENST00000407221.1_Missense_Mutation_p.E128Q|YY1AP1_ENST00000361831.5_Missense_Mutation_p.E128Q|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000368330.2_Missense_Mutation_p.E139Q|YY1AP1_ENST00000368339.5_Missense_Mutation_p.E277Q|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000405763.3_Missense_Mutation_p.E277Q|YY1AP1_ENST00000347088.5_Missense_Mutation_p.E139Q|YY1AP1_ENST00000404643.1_Missense_Mutation_p.E139Q NM_001198904.1 NP_001185833.1 YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) GTTCCCAGCTCTTTCTGGGAA 0.448000 6 57 0 0 1 0 0 VPS52 6293 broad.mit.edu 37 6 33232653 33232653 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr6:33232653C>T ENST00000445902.2 - 13 1524 c.1306G>A c.(1306-1308)Gac>Aac p.D436N VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.D311N|VPS52_ENST00000478934.1_5'UTR NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 436 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 TCGTAGCAGTCAGCTAGATAA 0.448000 33 142 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885289 12885289 + Silent SNP G G T rs148273194 by1000genomes TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:12885289G>T ENST00000535591.1 - 4 1017 c.822C>A c.(820-822)ctC>ctA p.L274L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 274 p.L274L(3) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGCACTGGGAGAGATGCTTCA 0.458000 7 319 2.0095e-06 2.08238e-06 1 1 0 HIVEP3 59269 broad.mit.edu 37 1 42045430 42045430 + Missense_Mutation SNP G G T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:42045430G>T ENST00000372584.1 - 3 6053 c.5039C>A c.(5038-5040)tCc>tAc p.S1680Y HIVEP3_ENST00000372583.1_Missense_Mutation_p.S1680Y|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1680Y|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1680Y NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1680 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGGCTTGCGGGAGCTGGATGG 0.512000 19 81 2.21704e-12 2.39033e-12 1 1 0 C22orf42 150297 broad.mit.edu 37 22 32555103 32555103 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr22:32555103C>T ENST00000382097.3 - 1 172 c.100G>A c.(100-102)Gag>Aag p.E34K NM_001010859.1 NP_001010859.1 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 34 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 GCCACAGTCTCAGGAATCTCA 0.577000 4 116 0 0 1 0 0 CCNB1IP1 57820 broad.mit.edu 37 14 20779857 20779857 + Missense_Mutation SNP C C A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr14:20779857C>A ENST00000398169.3 - 7 1302 c.686G>T c.(685-687)gGa>gTa p.G229V CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.G229V|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.G229V|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.G229V|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.G229V|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.G229V Q9NPC3 CIP1_HUMAN cyclin B1 interacting protein 1, E3 ubiquitin protein ligase 229 chromosome|nucleus ligase activity|metal ion binding|protein binding HMGA2/CCNB1IP1(2) breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 9 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;8.86e-07)|all cancers(55;4.98e-06) GBM - Glioblastoma multiforme(265;0.0164) ATCTCCATCTCCATCGCCCCG 0.398000 T HMGA2 leiomyoma 27 97 3.1745e-13 3.43189e-13 1 1 0 EHD1 10938 broad.mit.edu 37 11 64627491 64627491 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:64627491C>T ENST00000320631.3 - 3 1074 c.820G>A c.(820-822)Gag>Aag p.E274K EHD1_ENST00000359393.2_Missense_Mutation_p.E274K NM_006795.2 NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 274 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 TCCTGCTCCTCGGCCTCAAAG 0.612000 19 45 0 0 1 0 0 PVRL4 81607 broad.mit.edu 37 1 161049441 161049441 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:161049441C>G ENST00000368012.3 - 2 680 c.378G>C c.(376-378)gaG>gaC p.E126D NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 126 Ig-like V-type 1. adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TGACCCGGCACTCGTACTCGC 0.711000 8 26 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89807156 89807156 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr15:89807156G>A ENST00000310775.7 + 8 654 c.568G>A c.(568-570)Gag>Aag p.E190K FANCI_ENST00000300027.8_Missense_Mutation_p.E190K|FANCI_ENST00000567996.1_Missense_Mutation_p.E190K|FANCI_ENST00000451393.2_Missense_Mutation_p.E11K NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 190 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) GACTGCAGAAGAGGTGGAATT 0.423000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 10 54 0 0 1 0 0 SLC4A10 57282 broad.mit.edu 37 2 162833336 162833336 + Silent SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:162833336G>C ENST00000375514.5 + 25 3524 c.3237G>C c.(3235-3237)ctG>ctC p.L1079L SLC4A10_ENST00000272716.5_Silent_p.L1068L|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000415876.2_Silent_p.L1068L|SLC4A10_ENST00000446997.1_Silent_p.L1098L NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 1098 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GGAACCTTCTGATTACTGCCG 0.338000 4 4 0 0 1 0 0 VGLL1 51442 broad.mit.edu 37 X 135618380 135618380 + Silent SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chrX:135618380G>C ENST00000370634.3 + 2 371 c.201G>C c.(199-201)gtG>gtC p.V67V NM_016267.3 NP_057351.1 Q99990 VGLL1_HUMAN vestigial like 1 (Drosophila) 67 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;0.000127) GTGAAGGTGTGATGCTGAAAA 0.527000 10 32 0 0 1 0 0 NUDT16 131870 broad.mit.edu 37 3 131102278 131102278 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:131102278G>A ENST00000537561.1 + 4 547 c.472G>A c.(472-474)Gag>Aag p.E158K NUDT16_ENST00000359850.3_3'UTR|NUDT16_ENST00000502852.1_3'UTR|NUDT16_ENST00000521288.1_3'UTR NM_001171905.1 NP_001165376.1 Q96DE0 NUD16_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 16 0 Nudix hydrolase. nucleolus|nucleoplasm hydrolase activity|metal ion binding|RNA binding large_intestine(1)|lung(6) 7 TATTGGATCTGAGAGATGATA 0.468000 4 7 0 0 1 0 0 MIR381HG 378881 broad.mit.edu 37 14 101513736 101513736 + RNA SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr14:101513736C>G ENST00000553692.1 + 0 28 TTTTGAGTATCAAATCTTGCC 0.483000 3 20 0 0 1 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79974881 79974881 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr17:79974881G>C ENST00000306729.7 + 16 1919 c.1822G>C c.(1822-1824)Gag>Cag p.E608Q ASPSCR1_ENST00000306739.4_Missense_Mutation_p.E514Q|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.E462Q|ASPSCR1_ENST00000582404.1_3'UTR NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 514 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) ACCTAAGTCTGAGCCAGCTGC 0.677000 T TFE3 alveolar soft part sarcoma 10 49 0 0 1 0 0 SDF4 51150 broad.mit.edu 37 1 1158640 1158640 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:1158640G>A ENST00000263741.7 - 4 853 c.561C>T c.(559-561)ctC>ctT p.L187L SDF4_ENST00000360001.6_Silent_p.L187L|SDF4_ENST00000545427.1_Silent_p.L187L NM_016176.3|NM_016547.2 NP_057260.2|NP_057631.1 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 187 cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|identical protein binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 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;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) CATCCACTTTGAGTTCCTCGT 0.562000 23 61 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5190238 5190238 + Missense_Mutation SNP C C A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr5:5190238C>A ENST00000274181.7 + 7 1340 c.1202C>A c.(1201-1203)aCt>aAt p.T401N ADAMTS16_ENST00000511368.1_Missense_Mutation_p.T401N NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 401 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CCCTGTGACACTTTGGGTGAG 0.507000 5 88 1.23904e-05 1.27408e-05 1 1 0 HIVEP3 59269 broad.mit.edu 37 1 42050278 42050278 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:42050278G>A ENST00000372584.1 - 3 1205 c.191C>T c.(190-192)tCa>tTa p.S64L HIVEP3_ENST00000372583.1_Missense_Mutation_p.S64L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S64L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S64L NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 64 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CCTAAGAACTGATGAGGGGCC 0.632000 35 191 0 0 1 0 0 GAL3ST2 64090 broad.mit.edu 37 2 242741215 242741215 + Nonsense_Mutation SNP G G T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:242741215G>T ENST00000192314.6 + 3 270 c.139G>T c.(139-141)Gag>Tag p.E47* AC114730.5_ENST00000437438.1_RNA NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 47 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) GGGCCAGGCTGAGGGGCCGCC 0.652000 15 34 6.31663e-08 6.64908e-08 1 1 0 SH3RF1 57630 broad.mit.edu 37 4 170077830 170077830 + Splice_Site SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr4:170077830C>G ENST00000284637.9 - 3 735 c.393_splice c.e3-1 p.G132_splice SH3RF1_ENST00000508685.1_5'UTR NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 132 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) TGAGGTATACCCTTTAAAAAA 0.328000 14 52 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62294601 62294601 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:62294601C>G ENST00000378024.4 - 5 7562 c.7288G>C c.(7288-7290)Gag>Cag p.E2430Q AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2430 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCTGGTCCCTCAATGTCAATG 0.468000 14 64 0 0 1 0 0 IL19 29949 broad.mit.edu 37 1 207010027 207010027 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:207010027C>T ENST00000270218.6 + 3 959 c.20C>T c.(19-21)tCc>tTc p.S7F IL19_ENST00000340758.2_Missense_Mutation_p.S45F NM_013371.3 NP_037503.2 Q9UHD0 IL19_HUMAN interleukin 19 7 apoptosis|immune response|signal transduction extracellular space cytokine activity central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(75;0.211) CAGTGTGTTTCCCTTTGGCTC 0.478000 66 74 0 0 1 0 0 AOC2 314 broad.mit.edu 37 17 41001263 41001263 + Silent SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr17:41001263C>G ENST00000253799.3 + 2 1776 c.1749C>G c.(1747-1749)ctC>ctG p.L583L AOC2_ENST00000452774.2_Silent_p.L583L NM_009590.2 NP_033720.2 O75106 AOC2_HUMAN amine oxidase, copper containing 2 (retina-specific) 583 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) CCCGCTACCTCTACCTGGCTA 0.607000 33 133 0 0 1 0 0 ABCD1 215 broad.mit.edu 37 X 153008774 153008774 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chrX:153008774C>T ENST00000218104.3 + 9 2364 c.1965C>T c.(1963-1965)ctC>ctT p.L655L U52111.14_ENST00000434284.1_RNA NM_000033.3 NP_000024.2 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 1 655 ABC transporter. fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTGCCCTGCTCTCCATCACCC 0.687000 3 6 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52541667 52541667 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:52541667G>A ENST00000321725.6 + 19 2104 c.2028G>A c.(2026-2028)acG>acA p.T676T NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 676 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) ACACCAGCACGTGTCCCCCCA 0.612000 13 54 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101580639 101580639 + Splice_Site SNP G G T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:101580639G>T ENST00000335681.5 + 8 1002 c.e8+1 NPAS2_ENST00000542504.1_Splice_Site NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATTCTTAAAGGCAAGTACCTG 0.443000 17 88 1.45105e-14 1.57296e-14 1 1 0 COL6A6 131873 broad.mit.edu 37 3 130293197 130293197 + Silent SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:130293197G>C ENST00000358511.6 + 7 3406 c.3375G>C c.(3373-3375)ctG>ctC p.L1125L COL6A6_ENST00000453409.2_Silent_p.L1125L NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1125 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CGGAAGCCCTGAGACACAGAG 0.567000 26 107 0 0 1 0 0 SIMC1 375484 broad.mit.edu 37 5 175772396 175772396 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr5:175772396C>T ENST00000443967.1 + 12 2974 c.2567C>T c.(2566-2568)gCg>gTg p.A856V SIMC1_ENST00000430704.2_Missense_Mutation_p.A441V|SIMC1_ENST00000341199.6_Missense_Mutation_p.A441V|SIMC1_ENST00000332772.4_Missense_Mutation_p.A317V SUMO-interacting motifs containing 1 TTCTATGCTGCGGACTTGAAC 0.572000 9 44 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47739054 47739054 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:47739054C>G ENST00000263773.5 - 17 2986 c.2974G>C c.(2974-2976)Gag>Cag p.E992Q NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 992 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 GCATTTCTCTCTGCCATGCCA 0.328000 10 41 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 14996 14996 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chrM:14996G>A ENST00000361789.2 + 1 250 c.250G>A c.(250-252)Gcc>Acc p.84_84insT mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 GCTACCTTCACGCCAATGGCG 0.483000 13 17 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117214932 117214932 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:117214932G>C ENST00000278935.3 + 4 280 c.133G>C c.(133-135)Gaa>Caa p.E45Q NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 45 Interaction with ATRIP. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) CAAGGAACCAGAACTGATGTG 0.532000 9 14 0 0 1 0 0 DPPA2 151871 broad.mit.edu 37 3 109028070 109028070 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:109028070G>A ENST00000478945.1 - 4 535 c.289C>T c.(289-291)Cgg>Tgg p.R97W NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 97 SAP. nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AAAGTGTCCCGACACACCTTA 0.448000 48 250 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39727051 39727051 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr12:39727051C>G ENST00000395670.3 - 18 2869 c.2450G>C c.(2449-2451)aGa>aCa p.R817T KIF21A_ENST00000361961.3_Missense_Mutation_p.R804T|KIF21A_ENST00000544797.2_Missense_Mutation_p.R804T|KIF21A_ENST00000361418.5_Missense_Mutation_p.R817T|KIF21A_ENST00000541463.2_Intron Q7Z4S6 KI21A_HUMAN kinesin family member 21A 817 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TTCTTGGTTTCTTTTTTGGGC 0.328000 28 113 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179604916 179604916 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:179604916G>A ENST00000589042.1 - 48 13268 c.13044C>T c.(13042-13044)aaC>aaT p.N4348N TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Silent_p.N3985N|TTN_ENST00000359218.5_Silent_p.N4110N|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Silent_p.N4177N|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Silent_p.N4031N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4031 Ig-like 23. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCATCACCACGTTGTCAGAAT 0.463000 10 58 0 0 1 0 0 ZKSCAN1 7586 broad.mit.edu 37 7 99621306 99621306 + Missense_Mutation SNP C C A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr7:99621306C>A ENST00000324306.6 + 2 411 c.177C>A c.(175-177)ttC>ttA p.F59L ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.F23L|ZKSCAN1_ENST00000535170.1_Intron NM_003439.1 NP_003430.1 P17029 ZKSC1_HUMAN zinc finger with KRAB and SCAN domains 1 59 SCAN box. viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) GCCAACGCTTCAGGCGCTTCT 0.552000 27 68 8.24728e-16 8.96444e-16 1 1 0 FRYL 285527 broad.mit.edu 37 4 48546000 48546000 + Missense_Mutation SNP C C G rs955713 TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr4:48546000C>G ENST00000537810.1 - 44 6020 c.5416G>C c.(5416-5418)Gaa>Caa p.E1806Q FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.E1806Q|FRYL_ENST00000358350.4_Missense_Mutation_p.E1806Q|FRYL_ENST00000507873.2_5'UTR O94915 FRYL_HUMAN FRY-like 1806 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 AGATGATGTTCCAGATGAATT 0.408000 11 39 0 0 1 0 0 MCF2L 23263 broad.mit.edu 37 13 113699197 113699197 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr13:113699197C>T ENST00000397021.1 + 1 222 c.159C>T c.(157-159)ggC>ggT p.G53G MCF2L_ENST00000375597.4_Intron|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000480321.1_3'UTR|MCF2L_ENST00000423482.2_Intron|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000421756.1_Intron O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 388 CRAL-TRIO. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CCAGGACCGGCGTGATGTATG 0.522000 3 45 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606712 21606712 + Silent SNP T T C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:21606712T>C ENST00000392288.2 + 4 1360 c.1251T>C c.(1249-1251)tcT>tcC p.S417S CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S289S NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATAAGGAGTCTTCACACCTTA 0.348000 3 44 0 0 1 0 0 TMEM120A 83862 broad.mit.edu 37 7 75621579 75621579 + RNA SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr7:75621579C>T ENST00000493111.2 - 0 200 TMEM120A_ENST00000338761.4_RNA Q9BXJ8 T120A_HUMAN transmembrane protein 120A integral to membrane GGGTTTGCATCTGCGGGTAAG 0.617000 4 84 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91736691 91736691 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr7:91736691G>C ENST00000359028.2 + 48 11738 c.11513G>C c.(11512-11514)aGa>aCa p.R3838T AKAP9_ENST00000356239.3_Missense_Mutation_p.R3834T|AKAP9_ENST00000358100.2_Missense_Mutation_p.R3784T Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3838 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TATCGCTCAAGATCAGATCTG 0.363000 T BRAF papillary thyroid 10 35 0 0 1 0 0 C4BPA 722 broad.mit.edu 37 1 207317276 207317276 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:207317276C>T ENST00000367070.3 + 11 1752 c.1558C>T c.(1558-1560)Ccc>Tcc p.P520S NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 520 Sushi 8. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TGTGGTTGGTCCCCAAAGTAT 0.478000 23 38 0 0 1 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28217210 28217210 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr21:28217210C>T ENST00000284984.2 - 1 518 c.64G>A c.(64-66)Gag>Aag p.E22K NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 22 integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) GGAGCCCGCTCCGCGTTCCCC 0.716000 OREG0026151 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 12 0 0 1 0 0 TMEM169 92691 broad.mit.edu 37 2 216960858 216960858 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:216960858G>A ENST00000454545.1 + 3 498 c.172G>A c.(172-174)Gac>Aac p.D58N TMEM169_ENST00000437356.2_Missense_Mutation_p.D58N|TMEM169_ENST00000406027.2_Missense_Mutation_p.D58N|TMEM169_ENST00000295658.4_Missense_Mutation_p.D58N NM_001142310.1 NP_001135782.1 Q96HH4 TM169_HUMAN transmembrane protein 169 58 integral to membrane breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2) 13 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTACCGCTCAGACAATGAGAA 0.517000 10 43 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38964982 38964982 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr5:38964982G>C ENST00000357387.3 - 16 1342 c.1312C>G c.(1312-1314)Ctt>Gtt p.L438V RICTOR_ENST00000296782.5_Missense_Mutation_p.L438V NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 438 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) GAATGAGGAAGAATTGTGTTT 0.363000 7 24 0 0 1 0 0 IMMT 10989 broad.mit.edu 37 2 86371549 86371549 + Missense_Mutation SNP C C A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:86371549C>A ENST00000410111.3 - 15 2506 c.2119G>T c.(2119-2121)Gca>Tca p.A707S IMMT_ENST00000409051.2_Missense_Mutation_p.A660S|IMMT_ENST00000449247.2_Missense_Mutation_p.A696S|IMMT_ENST00000442664.2_Missense_Mutation_p.A706S|IMMT_ENST00000254636.5_Missense_Mutation_p.A608S NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 707 integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 ACAAACTTTGCTGCTAGCTCC 0.478000 18 61 5.03518e-11 5.38522e-11 1 1 0 FARS2 10667 broad.mit.edu 37 6 5369021 5369021 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr6:5369021G>C ENST00000324331.6 + 2 554 c.218G>C c.(217-219)aGa>aCa p.R73T FARS2_ENST00000274680.4_Missense_Mutation_p.R73T O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2, mitochondrial 73 phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) GTCCTCACCAGAGTTGGCAGG 0.587000 7 60 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178418925 178418925 + Missense_Mutation SNP C C G rs62638204 TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr5:178418925C>G ENST00000231188.5 - 2 842 c.664G>C c.(664-666)Gag>Cag p.E222Q GRM6_ENST00000517717.1_Missense_Mutation_p.E222Q NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 222 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TAGTTGCCCTCGGAGGCCAGC 0.617000 14 49 0 0 1 0 0 SLC2A2 6514 broad.mit.edu 37 3 170727825 170727825 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:170727825G>C ENST00000314251.3 - 4 497 c.418C>G c.(418-420)Ctc>Gtc p.L140V SLC2A2_ENST00000382808.4_Missense_Mutation_p.L21V NM_000340.1 NP_000331.1 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose transporter), member 2 140 carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) CCCATCAAGAGAGCTCCAACT 0.343000 8 64 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115374043 115374043 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr10:115374043C>G ENST00000369358.4 - 29 3467 c.3223G>C c.(3223-3225)Gag>Cag p.E1075Q NRAP_ENST00000360478.3_Missense_Mutation_p.E1032Q|NRAP_ENST00000369360.3_Missense_Mutation_p.E1040Q|NRAP_ENST00000359988.3_Missense_Mutation_p.E1067Q Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1067 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TCAAATGCCTCTTTGTATTTG 0.463000 20 91 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75676757 75676757 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr15:75676757C>G ENST00000394947.3 - 17 3357 c.3043G>C c.(3043-3045)Gag>Cag p.E1015Q SIN3A_ENST00000360439.4_Missense_Mutation_p.E1015Q|SIN3A_ENST00000394949.4_Missense_Mutation_p.E1015Q NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 1015 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 ACACAGATCTCATCACTCACG 0.468000 10 59 0 0 1 0 0 SULT1A2 6799 broad.mit.edu 37 16 28606873 28606873 + Nonsense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr16:28606873G>C ENST00000533150.1 - 2 1388 c.272C>G c.(271-273)tCa>tGa p.S91* SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.S91*|SULT1A2_ENST00000395630.1_Nonsense_Mutation_p.S91* P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 91 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2) 14 ACACACACCTGAGGGAATCCC 0.587000 15 73 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108140005 108140005 + Silent SNP T T C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:108140005T>C ENST00000273353.3 - 29 3875 c.3819A>G c.(3817-3819)gcA>gcG p.A1273A NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1273 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TATCTAGCTTTGCAGTTGCTT 0.458000 37 124 0 0 1 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 46 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152081441 152081441 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:152081441C>T ENST00000368804.1 - 2 4251 c.4252G>A c.(4252-4254)Gag>Aag p.E1418K NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1418 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTTCCTCCTCGCGGAATTTT 0.582000 36 135 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32135582 32135582 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr12:32135582C>G ENST00000312561.4 + 4 2107 c.1693C>G c.(1693-1695)Ccc>Gcc p.P565A KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 AATTTCTGTTCCCAAGTCCAT 0.378000 9 31 0 0 1 0 0 GPR176 11245 broad.mit.edu 37 15 40212072 40212072 + Missense_Mutation SNP G G T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr15:40212072G>T ENST00000299092.3 - 1 354 c.156C>A c.(154-156)ttC>ttA p.F52L GPR176_ENST00000561100.1_Missense_Mutation_p.F52L NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 52 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) GCGAGCCTATGAAGATGACGA 0.736000 4 15 1.23904e-05 1.27408e-05 1 1 0 AMH 268 broad.mit.edu 37 19 2251939 2251939 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:2251939G>A ENST00000221496.3 + 5 2332 c.1666G>A c.(1666-1668)Gag>Aag p.E556K NM_000479.3 NP_000470.2 P03971 MIS_HUMAN anti-Mullerian hormone 556 cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination extracellular space growth factor activity|hormone activity lung(2) 2 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) GGTGGCCACCGAGTGTGGCTG 0.706000 Persistant Mullerian Duct Syndrome (type I and II) 3 9 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32090179 32090179 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr5:32090179G>A ENST00000438447.1 + 20 7013 c.6625G>A c.(6625-6627)Gag>Aag p.E2209K PDZD2_ENST00000282493.3_Missense_Mutation_p.E2209K O15018 PDZD2_HUMAN PDZ domain containing 2 2209 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CCCCTCGGGGGAGGACCATCT 0.587000 61 247 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17257809 17257809 + Silent SNP C C T rs144262827 TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:17257809C>T ENST00000375541.5 + 8 942 c.873C>T c.(871-873)aaC>aaT p.N291N CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 291 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) ACTTCAGCAACGAGCACAGTC 0.622000 22 119 0 0 1 0 0 MEP1B 4225 broad.mit.edu 37 18 29782855 29782855 + Splice_Site SNP G G T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr18:29782855G>T ENST00000269202.6 + 6 297 c.e6-1 MEP1B_ENST00000581447.1_Splice_Site NM_005925.2 NP_005916.2 Q16820 MEP1B_HUMAN meprin A, beta digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 TCTTCCTTCAGAAATGAATGC 0.348000 4 8 1.23904e-05 1.27408e-05 1 1 0 ZNF253 56242 broad.mit.edu 37 19 20002778 20002778 + Nonsense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:20002778C>G ENST00000589717.1 + 4 814 c.722C>G c.(721-723)tCa>tGa p.S241* ZNF253_ENST00000355650.4_Nonsense_Mutation_p.S165* NM_021047.2 NP_066385.2 O75346 ZN253_HUMAN zinc finger protein 253 241 Missing (in Ref. 1; AAC26844). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AAGCAGTCCTCAAACCTTACT 0.403000 13 50 0 0 1 0 0 SENP7 57337 broad.mit.edu 37 3 101090902 101090902 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:101090902C>T ENST00000394095.2 - 7 799 c.746G>A c.(745-747)cGa>cAa p.R249Q SENP7_ENST00000358203.3_Missense_Mutation_p.R85Q|SENP7_ENST00000394094.2_Missense_Mutation_p.R184Q|SENP7_ENST00000394091.1_Missense_Mutation_p.R85Q|SENP7_ENST00000314261.7_Missense_Mutation_p.R183Q|SENP7_ENST00000348610.3_Missense_Mutation_p.R216Q NM_020654.3 NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 249 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 ATCCTTTCTTCGTTTTTCTTT 0.353000 10 44 0 0 1 0 0 IQGAP1 8826 broad.mit.edu 37 15 91029307 91029307 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr15:91029307C>G ENST00000268182.5 + 31 4091 c.3967C>G c.(3967-3969)Cca>Gca p.P1323A IQGAP1_ENST00000560738.1_Missense_Mutation_p.P751A NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1323 C2. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) GCACAATGATCCAATCCACGA 0.502000 7 18 0 0 1 0 0 TMEM169 92691 broad.mit.edu 37 2 216960780 216960780 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:216960780G>C ENST00000454545.1 + 3 420 c.94G>C c.(94-96)Gat>Cat p.D32H TMEM169_ENST00000437356.2_Missense_Mutation_p.D32H|TMEM169_ENST00000406027.2_Missense_Mutation_p.D32H|TMEM169_ENST00000295658.4_Missense_Mutation_p.D32H NM_001142310.1 NP_001135782.1 Q96HH4 TM169_HUMAN transmembrane protein 169 32 integral to membrane breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2) 13 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTGGCGCTGGATGGGGAATC 0.552000 15 67 0 0 1 0 0 UBR3 130507 broad.mit.edu 37 2 170938325 170938325 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:170938325G>C ENST00000272793.5 + 39 5689 c.5639G>C c.(5638-5640)aGa>aCa p.R1880T UBR3_ENST00000392631.1_Missense_Mutation_p.R701T|UBR3_ENST00000418381.1_Missense_Mutation_p.R1880T Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1880 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 ATCAATAAAAGATGGGGTCCA 0.373000 10 51 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529668 80529668 + Missense_Mutation SNP T T A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:80529668T>A ENST00000295057.3 - 2 1933 c.1277A>T c.(1276-1278)cAc>cTc p.H426L CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.H426L NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 426 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GACCACCTTGTGGATCTGCAC 0.657000 HNSCC(69;0.2) 21 53 0 0 1 0 0 CSNK2A2 1459 broad.mit.edu 37 16 58201591 58201591 + Nonsense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr16:58201591G>A ENST00000262506.3 - 7 805 c.622C>T c.(622-624)Cag>Tag p.Q208* CSNK2A2_ENST00000566813.1_5'UTR NM_001896.2 NP_001887.1 P19784 CSK22_HUMAN casein kinase 2, alpha prime polypeptide 208 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|nucleus ATP binding|protein N-terminus binding|protein serine/threonine kinase activity central_nervous_system(1) 1 AAGTTTACCTGATAGTCCACG 0.438000 20 43 0 0 1 0 0 GPT2 84706 broad.mit.edu 37 16 46960843 46960843 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr16:46960843C>G ENST00000440783.2 + 11 1740 c.1075C>G c.(1075-1077)Caa>Gaa p.Q359E GPT2_ENST00000340124.4_Missense_Mutation_p.Q459E NM_001142466.1 NP_001135938.1 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase (alanine aminotransferase) 2 459 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) ATAGGCCCATCAAATGGCTCC 0.517000 13 42 0 0 1 0 0 FANCF 2188 broad.mit.edu 37 11 22646256 22646256 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:22646256G>A ENST00000327470.3 - 1 1131 c.1101C>T c.(1099-1101)ctC>ctT p.L367L NM_022725.3 NP_073562.1 Q9NPI8 FANCF_HUMAN Fanconi anemia, complementation group F 367 DNA repair nucleoplasm protein binding kidney(3)|large_intestine(3)|lung(6)|skin(1) 13 GGCCTGCGCTGAGACCCAAAA 0.378000 """N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia OREG0020844 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 70 0 0 1 0 0 ACSS1 84532 broad.mit.edu 37 20 25003652 25003652 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr20:25003652G>A ENST00000537502.1 - 3 2166 c.635C>T c.(634-636)tCa>tTa p.S212L ACSS1_ENST00000432802.2_Missense_Mutation_p.S295L|ACSS1_ENST00000323482.4_Missense_Mutation_p.S295L|ACSS1_ENST00000542618.1_Missense_Mutation_p.S174L Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 295 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GGTGCTCCCTGAGGTGTACAG 0.597000 11 36 0 0 1 0 0 AMBP 259 broad.mit.edu 37 9 116825030 116825030 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr9:116825030C>T ENST00000265132.3 - 7 874 c.612G>A c.(610-612)cgG>cgA p.R204R NM_001633.3 NP_001624.1 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin precursor 204 cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) GCACAGCCCTCCGGACTCTCT 0.507000 9 53 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42045758 42045758 + Missense_Mutation SNP G G T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:42045758G>T ENST00000372584.1 - 3 5725 c.4711C>A c.(4711-4713)Ctg>Atg p.L1571M HIVEP3_ENST00000372583.1_Missense_Mutation_p.L1571M|HIVEP3_ENST00000429157.2_Missense_Mutation_p.L1571M|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L1571M NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1571 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GACAGAGGCAGAGAGCTCGGA 0.532000 22 108 4.35082e-09 4.60404e-09 1 1 0 OR6F1 343169 broad.mit.edu 37 1 247875358 247875358 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:247875358G>A ENST00000302084.2 - 1 747 c.700C>T c.(700-702)Cgg>Tgg p.R234W RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GCTTTGCTCCGGCCACTGGCA 0.522000 63 118 0 0 1 0 0 TNPO2 30000 broad.mit.edu 37 19 12829958 12829958 + Silent SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:12829958G>C ENST00000425528.1 - 5 567 c.210C>G c.(208-210)ctC>ctG p.L70L TNPO2_ENST00000441499.1_Silent_p.L70L|TNPO2_ENST00000450764.2_Silent_p.L70L|TNPO2_ENST00000588216.1_Silent_p.L70L|TNPO2_ENST00000356861.5_Silent_p.L70L|TNPO2_ENST00000592287.1_Silent_p.L70L|TNPO2_ENST00000589956.1_5'UTR O14787 TNPO2_HUMAN transportin 2 70 Importin N-terminal. intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CGTTGTTCTTGAGGATGAGGC 0.577000 21 60 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8890400 8890400 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:8890400C>T ENST00000256707.3 - 24 3437 c.3256G>A c.(3256-3258)Gag>Aag p.E1086K KIDINS220_ENST00000473731.1_Missense_Mutation_p.E1086K|KIDINS220_ENST00000427284.1_Missense_Mutation_p.E1086K|KIDINS220_ENST00000418530.1_Missense_Mutation_p.E1044K NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1086 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GGAGGACCCTCATGTAGAGGG 0.582000 16 65 0 0 1 0 0 DESI2 51029 broad.mit.edu 37 1 244869039 244869039 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:244869039C>T ENST00000302550.11 + 5 912 c.533C>T c.(532-534)tCc>tTc p.S178F DESI2_ENST00000263831.7_Missense_Mutation_p.S145F NM_016076.3 NP_057160.2 Q9BSY9 PPDE1_HUMAN desumoylating isopeptidase 2 178 GCATCCGCTTCCGTGGCAAGC 0.567000 18 74 0 0 1 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39915990 39915990 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:39915990C>G ENST00000458508.2 + 20 3811 c.3685C>G c.(3685-3687)Cag>Gag p.Q1229E PLEKHG2_ENST00000425673.1_3'UTR|PLEKHG2_ENST00000409797.2_3'UTR|PLEKHG2_ENST00000409794.3_3'UTR Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 0 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CATAGACCCTCAGAACTTGAC 0.572000 3 35 0 0 1 0 0 BOK 666 broad.mit.edu 37 2 242511758 242511758 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:242511758C>T ENST00000318407.3 + 5 862 c.560C>T c.(559-561)tCc>tTc p.S187F NM_032515.4 NP_115904.1 Q9UMX3 BOK_HUMAN BCL2-related ovarian killer 187 activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis mitochondrial membrane|nucleus large_intestine(1)|lung(3)|ovary(1) 5 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835) GGCCTCCGCTCCCACTGGCTG 0.642000 7 24 0 0 1 0 0 EML1 2009 broad.mit.edu 37 14 100363537 100363537 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr14:100363537G>C ENST00000262233.6 + 7 872 c.733G>C c.(733-735)Gag>Cag p.E245Q EML1_ENST00000334192.4_Missense_Mutation_p.E264Q|EML1_ENST00000327921.9_Missense_Mutation_p.E233Q NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 245 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) TCCGACGGGAGAGACCGTCTA 0.488000 19 64 0 0 1 0 0 OR10A4 283297 broad.mit.edu 37 11 6897953 6897953 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:6897953G>C ENST00000379829.2 + 1 98 c.75G>C c.(73-75)caG>caC p.Q25H NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTGAGCTTCAGGCTCTACTGT 0.458000 35 101 0 0 1 0 0 DIP2B 57609 broad.mit.edu 37 12 51126172 51126172 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr12:51126172C>T ENST00000301180.5 + 32 3868 c.3834C>T c.(3832-3834)tgC>tgT p.C1278C NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 1278 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 ACCTCTCCTGCGTCCGGACCT 0.562000 15 75 0 0 1 0 0 PTDSS1 9791 broad.mit.edu 37 8 97299290 97299290 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr8:97299290C>T ENST00000517309.1 + 4 683 c.357C>T c.(355-357)ctC>ctT p.L119L PTDSS1_ENST00000455950.2_Intron|PTDSS1_ENST00000518776.1_3'UTR NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 119 phosphatidylserine biosynthetic process integral to membrane transferase activity endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) TATTCCTACTCTTCCTGAATT 0.413000 36 139 0 0 1 0 0 SAMD4B 55095 broad.mit.edu 37 19 39874164 39874164 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:39874164C>T ENST00000314471.6 + 16 3117 c.2082C>T c.(2080-2082)atC>atT p.I694I SAMD4B_ENST00000598913.1_Intron|SAMD4B_ENST00000596368.1_Intron NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 694 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CCTCCACCATCTGACGGGACC 0.647000 38 107 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820394 35820394 + Silent SNP T T C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chrX:35820394T>C ENST00000399989.1 + 2 360 c.81T>C c.(79-81)gtT>gtC p.V27V MAGEB16_ENST00000399992.1_Silent_p.V59V|MAGEB16_ENST00000399987.1_Silent_p.V27V|MAGEB16_ENST00000399988.1_Silent_p.V27V|MAGEB16_ENST00000399985.1_Silent_p.V27V NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 27 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GCCTGGAGGTTGCACAGGTCT 0.562000 15 13 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71492935 71492935 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr5:71492935C>T ENST00000296755.7 + 5 4051 c.3753C>T c.(3751-3753)gtC>gtT p.V1251V NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1251 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GTGAAAAGGTCAGCCCATCGA 0.502000 15 58 0 0 1 0 0 ASAP3 55616 broad.mit.edu 37 1 23779205 23779205 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:23779205C>T ENST00000336689.3 - 4 452 c.408G>A c.(406-408)ctG>ctA p.L136L ASAP3_ENST00000437606.2_Silent_p.L136L NM_017707.3 NP_060177.2 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 136 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 GACCGTCCCTCAGCTGCCCCT 0.572000 68 281 0 0 1 0 0 KLHL11 55175 broad.mit.edu 37 17 40021244 40021244 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr17:40021244G>A ENST00000319121.3 - 1 440 c.380C>T c.(379-381)tCg>tTg p.S127L NM_018143.1 NP_060613.1 Q9NVR0 KLH11_HUMAN kelch-like family member 11 127 BTB. extracellular region NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 Breast(137;0.00156) AAACTGGCCCGAGAGCAGGGG 0.677000 9 38 0 0 1 0 0 DNM1 1759 broad.mit.edu 37 9 131008756 131008756 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr9:131008756C>G ENST00000341179.7 + 16 1847 c.1755C>G c.(1753-1755)atC>atG p.I585M DNM1_ENST00000486160.1_Missense_Mutation_p.I585M|DNM1_ENST00000475805.1_Missense_Mutation_p.I585M|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000393594.3_Missense_Mutation_p.I585M|DNM1_ENST00000372923.3_Missense_Mutation_p.I585M NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 585 PH. receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 GCAAGCATATCTTTGCCCTCT 0.557000 4 42 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13057601 13057601 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr18:13057601G>A ENST00000506447.1 + 20 4206 c.4126G>A c.(4126-4128)Gag>Aag p.E1376K CEP192_ENST00000325971.8_Missense_Mutation_p.E780K|CEP192_ENST00000430049.2_Missense_Mutation_p.E901K NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 971 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CCGAGTGCCCGAGGAGTTGAA 0.502000 12 35 0 0 1 0 0 SMC3 9126 broad.mit.edu 37 10 112343948 112343948 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr10:112343948C>G ENST00000361804.4 + 13 1225 c.1099C>G c.(1099-1101)Caa>Gaa p.Q367E NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 367 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) TAGATTGGCTCAAGCTACCCA 0.378000 5 50 0 0 1 0 0 SWT1 54823 broad.mit.edu 37 1 185173910 185173910 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:185173910C>G ENST00000367500.4 + 12 1913 c.1748C>G c.(1747-1749)tCt>tGt p.S583C SWT1_ENST00000367501.3_Missense_Mutation_p.S583C NM_017673.6 NP_060143.4 Q5T5J6 SWT1_HUMAN SWT1 RNA endoribonuclease homolog (S. cerevisiae) 583 breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 AGCATTGTATCTGATCTTGAA 0.343000 19 38 0 0 1 0 0 CCL24 6369 broad.mit.edu 37 7 75441279 75441279 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr7:75441279G>A ENST00000416943.1 - 4 288 c.195C>T c.(193-195)ttC>ttT p.F65F CCL24_ENST00000222902.2_Silent_p.F65F NM_002991.2 NP_002982.2 O00175 CCL24_HUMAN chemokine (C-C motif) ligand 24 65 cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction extracellular space chemokine activity endometrium(1)|lung(2) 3 TCTTGGTGGTGAAGCTGTGGA 0.592000 10 58 0 0 1 0 0 NSMCE4A 54780 broad.mit.edu 37 10 123727232 123727232 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr10:123727232G>A ENST00000538652.1 - 4 751 c.114C>T c.(112-114)tcC>tcT p.S38S NSMCE4A_ENST00000369017.5_Silent_p.S197S|NSMCE4A_ENST00000369023.3_Silent_p.S197S|NSMCE4A_ENST00000489266.1_5'UTR Q9NXX6 NSE4A_HUMAN non-SMC element 4 homolog A (S. cerevisiae) 197 breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 6 all_neural(114;0.138)|Glioma(114;0.222) TTATCTTCCAGGAGTCATAGA 0.363000 20 74 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54080760 54080760 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:54080760C>G ENST00000253144.9 + 7 2279 c.946C>G c.(946-948)Cag>Gag p.Q316E ZNF331_ENST00000513999.1_Missense_Mutation_p.Q316E|ZNF331_ENST00000449416.1_Missense_Mutation_p.Q316E|ZNF331_ENST00000411977.2_Missense_Mutation_p.Q316E|ZNF331_ENST00000511154.1_Missense_Mutation_p.Q316E|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000511593.2_Missense_Mutation_p.Q316E|ZNF331_ENST00000512387.1_Missense_Mutation_p.Q316E NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 316 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) TTACCTTACTCAGCATCAGAA 0.478000 T ? follicular thyroid adenoma 21 73 0 0 1 0 0 SNX19 399979 broad.mit.edu 37 11 130781546 130781546 + Translation_Start_Site SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:130781546G>C ENST00000530356.1 - 0 348 SNX19_ENST00000539184.1_Missense_Mutation_p.L42V|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000265909.4_Missense_Mutation_p.L599V|SNX19_ENST00000528555.1_De_novo_Start_OutOfFrame|SNX19_ENST00000533214.1_Missense_Mutation_p.L599V Q92543 SNX19_HUMAN sorting nexin 19 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) AACTTTCGTAGATCTGGTTTC 0.547000 4 46 0 0 1 0 0 ABHD6 57406 broad.mit.edu 37 3 58270845 58270845 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:58270845C>T ENST00000478253.1 + 8 1216 c.715C>T c.(715-717)Cat>Tat p.H239Y ABHD6_ENST00000295962.4_Missense_Mutation_p.H239Y Q9BV23 ABHD6_HUMAN abhydrolase domain containing 6 239 integral to membrane acylglycerol lipase activity NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209) CCGCATCCCTCATAACAACTT 0.433000 7 68 0 0 1 0 0 PORCN 64840 broad.mit.edu 37 X 48368320 48368320 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chrX:48368320G>A ENST00000359882.4 + 2 291 c.112G>A c.(112-114)Gcc>Acc p.A38T PORCN_ENST00000355092.3_Missense_Mutation_p.A38T|PORCN_ENST00000537758.1_Missense_Mutation_p.A38T|PORCN_ENST00000361988.3_Missense_Mutation_p.A38T|PORCN_ENST00000326194.6_Missense_Mutation_p.A38T|PORCN_ENST00000355961.4_Missense_Mutation_p.A38T|PORCN_ENST00000367574.4_5'UTR|PORCN_ENST00000486272.1_3'UTR Q9H237 PORCN_HUMAN porcupine homolog (Drosophila) 38 Leu-rich. Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CATCTGCCTCGCCTGCCGCCT 0.597000 15 13 0 0 1 0 0 CPT2 1376 broad.mit.edu 37 1 53676293 53676293 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:53676293G>A ENST00000371486.3 + 4 1462 c.947G>A c.(946-948)aGg>aAg p.R316K RP5-1024G6.2_ENST00000452466.1_RNA NM_000098.2 NP_000089.1 P23786 CPT2_HUMAN carnitine palmitoyltransferase 2 316 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation mitochondrial inner membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 15 L-Carnitine(DB00583)|Perhexiline(DB01074) GAGAGCCTGAGGAAAGTGGAC 0.547000 28 90 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187521167 187521167 + Silent SNP A A G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr4:187521167A>G ENST00000441802.2 - 22 12197 c.11988T>C c.(11986-11988)taT>taC p.Y3996Y NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3996 Laminin G-like. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CGATGTGTGCATAGCTTCTGG 0.507000 HNSCC(5;0.00058) 26 87 0 0 1 0 0 TRPC3 7222 broad.mit.edu 37 4 122828590 122828590 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr4:122828590G>C ENST00000264811.5 - 6 2124 c.1706C>G c.(1705-1707)tCt>tGt p.S569C TRPC3_ENST00000513531.1_Missense_Mutation_p.S514C|TRPC3_ENST00000379645.3_Missense_Mutation_p.S642C NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 557 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CCTTCCAAGAGAGATCTGCAG 0.418000 5 162 0 0 1 0 0 LRRC19 64922 broad.mit.edu 37 9 26996311 26996311 + Nonsense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr9:26996311G>C ENST00000380055.5 - 4 892 c.782C>G c.(781-783)tCa>tGa p.S261* IFT74_ENST00000433700.1_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000429045.2_Intron|IFT74_ENST00000380062.5_Intron|LRRC19_ENST00000482770.1_5'UTR NM_022901.2 NP_075052.1 Q9H756 LRC19_HUMAN leucine rich repeat containing 19 261 integral to membrane breast(1)|endometrium(2)|kidney(1)|lung(2) 6 all_neural(11;1.81e-09) Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001) TATATTACCTGAATTTCTTGT 0.259000 5 20 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31387101 31387101 + Nonsense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr20:31387101C>T ENST00000328111.2 + 16 2047 c.1726C>T c.(1726-1728)Cga>Tga p.R576* DNMT3B_ENST00000201963.3_Nonsense_Mutation_p.R568*|DNMT3B_ENST00000456297.2_Nonsense_Mutation_p.R480*|DNMT3B_ENST00000443239.3_Nonsense_Mutation_p.R514*|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000348286.2_Nonsense_Mutation_p.R556*|DNMT3B_ENST00000353855.2_Nonsense_Mutation_p.R556*|DNMT3B_ENST00000344505.4_Nonsense_Mutation_p.R556* NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 576 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GCGGCCCATTCGAGTCCTGTC 0.587000 4 25 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47342716 47342716 + Missense_Mutation SNP A A G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr14:47342716A>G ENST00000426342.1 - 14 2524 c.1778T>C c.(1777-1779)aTa>aCa p.I593T MDGA2_ENST00000357362.3_Missense_Mutation_p.I593T|MDGA2_ENST00000439988.2_Missense_Mutation_p.I822T|MDGA2_ENST00000399222.3_Missense_Mutation_p.I24T|MDGA2_ENST00000399232.2_Missense_Mutation_p.I891T NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 822 Ig-like 6. spinal cord motor neuron differentiation anchored to membrane|plasma membrane p.I593R(2)|p.I891R(1) breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TTTGGGAGCTATGCTGAAAAC 0.383000 25 79 0 0 1 0 0 PBK 55872 broad.mit.edu 37 8 27678199 27678199 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr8:27678199C>T ENST00000301905.4 - 6 941 c.478G>A c.(478-480)Gaa>Aaa p.E160K PBK_ENST00000522944.1_Missense_Mutation_p.E160K NM_018492.2 NP_060962.2 Q96KB5 TOPK_HUMAN PDZ binding kinase 160 Protein kinase. mitosis ATP binding|protein binding|protein serine/threonine kinase activity endometrium(1)|large_intestine(2)|lung(1) 4 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141) AGTTTCTTTTCTTGGTGCAGA 0.303000 7 35 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56493802 56493802 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr12:56493802C>T ENST00000267101.3 + 25 3558 c.3118C>T c.(3118-3120)Cgg>Tgg p.R1040W ERBB3_ENST00000415288.2_Missense_Mutation_p.R981W|ERBB3_ENST00000450146.2_Missense_Mutation_p.R397W|ERBB3_ENST00000553131.1_Missense_Mutation_p.R281W|ERBB3_ENST00000549832.1_Missense_Mutation_p.R160W NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 1040 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AACACTTAATCGGCCACGTGG 0.527000 26 110 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102124560 102124560 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr6:102124560C>T ENST00000369138.1 + 4 1094 c.604C>T c.(604-606)Cgt>Tgt p.R202C GRIK2_ENST00000369134.4_Missense_Mutation_p.R153C|GRIK2_ENST00000413795.1_Missense_Mutation_p.R202C|GRIK2_ENST00000421544.1_Missense_Mutation_p.R202C|GRIK2_ENST00000318991.6_Missense_Mutation_p.R202C|GRIK2_ENST00000358361.3_Missense_Mutation_p.R202C|GRIK2_ENST00000369137.3_Missense_Mutation_p.R202C NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 202 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.R202C(4) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) ACTCAAAATTCGTCAGTTACC 0.343000 7 26 0 0 1 0 0 HAS2 3037 broad.mit.edu 37 8 122629412 122629412 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr8:122629412G>A ENST00000303924.4 - 3 1199 c.662C>T c.(661-663)tCa>tTa p.S221L NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 221 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) CTCCACAGATGAGGCTGGGTC 0.398000 11 32 0 0 1 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102482338 102482338 + Missense_Mutation SNP T T C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr5:102482338T>C ENST00000321521.9 + 6 1168 c.595T>C c.(595-597)Tat>Cat p.Y199H PPIP5K2_ENST00000358359.3_Missense_Mutation_p.Y199H|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.Y199H|PPIP5K2_ENST00000513500.1_3'UTR O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 199 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TGTTTACATTTATTACCCAAC 0.368000 6 49 0 0 1 0 0 EPB41L5 57669 broad.mit.edu 37 2 120932482 120932482 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:120932482G>A ENST00000263713.5 + 25 2415 c.2201G>A c.(2200-2202)tGa>tAa p.*734* EPB41L5_ENST00000452780.1_Silent_p.*733*|AC012363.4_ENST00000455707.1_RNA|EPB41L5_ENST00000443902.2_3'UTR NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 0 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 ACTGAGCTCTGAGGGCCTGTA 0.488000 28 93 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53607396 53607396 + Missense_Mutation SNP T T C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr12:53607396T>C ENST00000425354.2 - 8 1389 c.902A>G c.(901-903)aAt>aGt p.N301S RARG_ENST00000394426.1_Missense_Mutation_p.N301S|RARG_ENST00000338561.5_Missense_Mutation_p.N290S|RARG_ENST00000327550.3_Missense_Mutation_p.N229S|RARG_ENST00000543726.1_Missense_Mutation_p.N279S|RARG_ENST00000543762.1_5'UTR NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 301 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GAAGCCGGCATTGTGCATCTG 0.622000 OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 65 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31523073 31523073 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr18:31523073C>T ENST00000261592.5 - 9 1795 c.1498G>A c.(1498-1500)Gag>Aag p.E500K NOL4_ENST00000269185.4_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.E426K|NOL4_ENST00000535384.1_Missense_Mutation_p.E215K|NOL4_ENST00000535475.1_Missense_Mutation_p.E281K|NOL4_ENST00000589544.1_Intron NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 500 nucleolus RNA binding p.E500*(1) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TTTCTACTCTCACTCTCACAA 0.428000 14 52 0 0 1 0 0 AMOTL1 154810 broad.mit.edu 37 11 94592733 94592733 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:94592733C>T ENST00000433060.2 + 9 2129 c.1988C>T c.(1987-1989)gCc>gTc p.A663V AMOTL1_ENST00000317829.8_Missense_Mutation_p.A613V|AMOTL1_ENST00000317837.9_Intron NM_130847.2 NP_570899.1 Q8IY63 AMOL1_HUMAN angiomotin like 1 663 cytoplasm|tight junction identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) GAATACAATGCCCCAGCCCTC 0.527000 5 21 0 0 1 0 0 NEUROD1 4760 broad.mit.edu 37 2 182542615 182542615 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:182542615G>A ENST00000295108.3 - 2 1430 c.973C>T c.(973-975)Cgc>Tgc p.R325C NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 325 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding p.R325C(1) endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) ATCTCGCAGCGAGGGGCAGCG 0.498000 12 82 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22167727 22167727 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:22167727C>T ENST00000374695.3 - 71 9459 c.9380G>A c.(9379-9381)gGa>gAa p.G3127E NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3127 Ig-like C2-type 17. 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) GACAGCCTTTCCCACTTTCAC 0.652000 14 74 0 0 1 0 0 EIF3B 8662 broad.mit.edu 37 7 2409171 2409171 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr7:2409171C>G ENST00000360876.4 + 10 1524 c.1468C>G c.(1468-1470)Cca>Gca p.P490A EIF3B_ENST00000397011.2_Missense_Mutation_p.P490A NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 490 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CAAAGATATTCCAGCCAGGGT 0.483000 48 157 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105410651 105410651 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr14:105410651C>T ENST00000333244.5 - 7 11256 c.11137G>A c.(11137-11139)Gag>Aag p.E3713K AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3713 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCGGCTCCCTCGGGCACCTGG 0.632000 59 221 0 0 1 0 0 PNKP 11284 broad.mit.edu 37 19 50367447 50367447 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:50367447C>T ENST00000322344.3 - 6 734 c.625G>A c.(625-627)Gag>Aag p.E209K PNKP_ENST00000596014.1_Missense_Mutation_p.E209K|PNKP_ENST00000600910.1_Missense_Mutation_p.E209K|PNKP_ENST00000600573.1_Missense_Mutation_p.E209K NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 209 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) TTGTAGCCCTCGGCTTCCAGC 0.642000 Other BER factors 32 45 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71135092 71135092 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr7:71135092G>A ENST00000333538.5 + 8 2036 c.1402G>A c.(1402-1404)Gag>Aag p.E468K WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 468 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TGCTTACGGGGAGGTAATTCA 0.413000 8 186 0 0 1 0 0 FRZB 2487 broad.mit.edu 37 2 183731003 183731003 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:183731003G>A ENST00000295113.4 - 1 887 c.278C>T c.(277-279)gCg>gTg p.A93V NM_001463.3 NP_001454.2 Q92765 SFRP3_HUMAN frizzled-related protein 93 FZ. brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) GCAGATGGGCGCGTACATGGC 0.607000 33 42 0 0 1 0 0 PIBF1 10464 broad.mit.edu 37 13 73401164 73401164 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr13:73401164G>A ENST00000326291.6 + 7 1161 c.823G>A c.(823-825)Gaa>Aaa p.E275K NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 275 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) TGATGCACTTGAACAGGAAGT 0.338000 4 46 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64966452 64966452 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr10:64966452C>G ENST00000399262.2 - 10 5195 c.4977G>C c.(4975-4977)aaG>aaC p.K1659N JMJD1C_ENST00000542921.1_Missense_Mutation_p.K1477N|JMJD1C_ENST00000402544.1_Missense_Mutation_p.K1440N|JMJD1C_ENST00000399251.1_Missense_Mutation_p.K1440N NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1659 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) CACCTTTTCTCTTTTGCAAAT 0.373000 19 49 0 0 1 0 0 PIAS2 9063 broad.mit.edu 37 18 44424064 44424064 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr18:44424064C>G ENST00000585916.1 - 8 993 c.994G>C c.(994-996)Gat>Cat p.D332H PIAS2_ENST00000545673.1_Missense_Mutation_p.D42H|PIAS2_ENST00000324794.7_Missense_Mutation_p.D332H NM_004671.3 NP_004662.2 O75928 PIAS2_HUMAN protein inhibitor of activated STAT, 2 332 androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 ATTTCACTATCAGGATCTGCA 0.279000 20 69 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135496474 135496474 + Missense_Mutation SNP A A C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chrX:135496474A>C ENST00000394143.1 + 25 9484 c.9193A>C c.(9193-9195)Agc>Cgc p.S3065R GPR112_ENST00000394141.1_Missense_Mutation_p.S2860R|GPR112_ENST00000287534.4_Missense_Mutation_p.S2784R|GPR112_ENST00000370652.1_Missense_Mutation_p.S3065R|GPR112_ENST00000412101.1_Missense_Mutation_p.S2860R NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 3065 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TTCAGAAATAAGCTTTCCAAA 0.388000 29 49 0 0 1 0 0 DDX31 64794 broad.mit.edu 37 9 135470375 135470375 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr9:135470375C>G ENST00000372159.3 - 20 2585 c.2434G>C c.(2434-2436)Ggt>Cgt p.G812R DDX31_ENST00000372153.1_Missense_Mutation_p.G739R|DDX31_ENST00000438527.3_Missense_Mutation_p.G683R NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 812 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) GGCCGGCCACCAGGCTCTCCA 0.547000 35 145 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73050782 73050782 + Missense_Mutation SNP C C T rs139601435 TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr10:73050782C>T ENST00000335350.6 + 9 1626 c.1210C>T c.(1210-1212)Cgt>Tgt p.R404C UNC5B_ENST00000373192.4_Missense_Mutation_p.R393C NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 404 apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 CCGCAACTGCCGTGACTTCGA 0.607000 62 229 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52885413 52885413 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr12:52885413C>T ENST00000330722.6 - 2 716 c.648G>A c.(646-648)caG>caA p.Q216Q NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 216 Linker 1.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) TGTTGATGTACTGCTCGAACA 0.587000 4 124 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9056550 9056550 + Nonsense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:9056550G>C ENST00000397910.4 - 3 31099 c.30896C>G c.(30895-30897)tCa>tGa p.S10299* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10301 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACCTGAACCTGAGATGGCTCG 0.532000 16 85 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 4 102 0 0 1 0 0 POLR2L 5441 broad.mit.edu 37 11 842418 842418 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:842418C>G ENST00000322028.4 - 1 127 c.91G>C c.(91-93)Gag>Cag p.E31Q NM_021128.4 NP_066951.1 P62875 RPAB5_HUMAN polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa 31 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|zinc ion binding lung(1) 1 all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227) all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) cctcaccccTCGGTGTACTCG 0.731000 7 14 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56494849 56494849 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr12:56494849C>G ENST00000267101.3 + 27 3646 c.3206C>G c.(3205-3207)tCt>tGt p.S1069C ERBB3_ENST00000415288.2_Missense_Mutation_p.S1010C|ERBB3_ENST00000450146.2_Missense_Mutation_p.S426C|ERBB3_ENST00000553131.1_Missense_Mutation_p.S310C|ERBB3_ENST00000549832.1_Missense_Mutation_p.S189C NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 1069 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CCTTAGGAGTCTGCAGTTTCT 0.463000 6 23 0 0 1 0 0 PDZD3 79849 broad.mit.edu 37 11 119057090 119057090 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr11:119057090C>T ENST00000531114.1 + 2 768 c.219C>T c.(217-219)agC>agT p.S73S PDZD3_ENST00000525131.1_Intron|PDZD3_ENST00000392817.2_Silent_p.S73S|PDZD3_ENST00000355547.5_Intron|PDZD3_ENST00000322712.4_Intron Q86UT5 NHRF4_HUMAN PDZ domain containing 3 73 cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport apical part of cell|brush border|cytosol|membrane fraction|subapical complex guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 14 all_hematologic(175;0.0977) Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.52e-05) AACTGCCCAGCACCCTATCAG 0.617000 6 27 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128496974 128496974 + Splice_Site SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr7:128496974C>T ENST00000325888.8 + 45 7821 c.7561_splice c.e45+1 p.T2520_splice RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Splice_Site_p.T2487_splice NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2520 Interaction with INPPL1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GAGGCACTACCGGTGAGTGCC 0.637000 10 20 0 0 1 0 0 HIST1H4F 8361 broad.mit.edu 37 6 26240845 26240845 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr6:26240845G>C ENST00000377745.2 + 1 285 c.192G>C c.(190-192)gaG>gaC p.E64D NM_003540.3 NP_003531.1 P62805 H4_HUMAN histone cluster 1, H4f 64 E -> Q (in a breast cancer sample; somatic mutation). CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) TGTTCCTGGAGAATGTGATAC 0.597000 14 49 0 0 1 0 0 PFN2 5217 broad.mit.edu 37 3 149686274 149686274 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:149686274G>C ENST00000239940.7 - 2 448 c.196C>G c.(196-198)Ctt>Gtt p.L66V PFN2_ENST00000498307.1_Missense_Mutation_p.L17V|PFN2_ENST00000497148.1_Missense_Mutation_p.L17V|PFN2_ENST00000475518.1_Missense_Mutation_p.L17V|PFN2_ENST00000494827.1_Missense_Mutation_p.L17V|PFN2_ENST00000481767.1_Missense_Mutation_p.L17V|PFN2_ENST00000452853.2_Missense_Mutation_p.L66V|PFN2_ENST00000481275.1_Missense_Mutation_p.L17V|PFN2_ENST00000423691.2_Missense_Mutation_p.L66V|PFN2_ENST00000461868.1_Missense_Mutation_p.L66V|PFN2_ENST00000490975.1_Missense_Mutation_p.L66V|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000489155.1_Missense_Mutation_p.L17V P35080 PROF2_HUMAN profilin 2 66 actin cytoskeleton organization|regulation of actin polymerization or depolymerization actin cytoskeleton|cytoplasm actin binding|phosphatidylinositol-4,5-bisphosphate binding large_intestine(1)|lung(4)|ovary(1)|prostate(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TTCGCGCCAAGAGTCAAACCG 0.443000 37 222 0 0 1 0 0 HIST1H2BN 8341 broad.mit.edu 37 6 27806606 27806606 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr6:27806606C>T ENST00000606613.1 + 1 228 c.167C>T c.(166-168)tCg>tTg p.S56L HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.S56L Q99877 H2B1N_HUMAN histone cluster 1, H2bn 56 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1) 8 ACCGGTATCTCGTCCAAGGCC 0.597000 78 247 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67108383 67108383 + Silent SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr17:67108383C>G ENST00000284425.2 - 16 2247 c.2073G>C c.(2071-2073)ctG>ctC p.L691L NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 691 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) CTGCACACTTCAGTCTCCCAT 0.373000 36 100 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18845939 18845939 + RNA SNP G G A rs117961252 by1000genomes TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr22:18845939G>A ENST00000412938.1 + 0 3297 TGCCTGGGCCGTGGAGCACTC 0.483000 3 23 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103297012 103297012 + Nonsense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr13:103297012C>T ENST00000376052.3 + 18 2297 c.2281C>T c.(2281-2283)Cag>Tag p.Q761* TPP2_ENST00000376065.4_Nonsense_Mutation_p.Q761* P29144 TPP2_HUMAN tripeptidyl peptidase II 761 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TACTGCTCCTCAGTTAAACAT 0.343000 5 40 0 0 1 0 0 KRT222 125113 broad.mit.edu 37 17 38816365 38816365 + Missense_Mutation SNP T T A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr17:38816365T>A ENST00000476049.1 - 3 361 c.320A>T c.(319-321)gAg>gTg p.E107V KRT222_ENST00000394052.3_Missense_Mutation_p.E107V Q8N1A0 KT222_HUMAN keratin 222 107 intermediate filament structural molecule activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1) 15 TTCCTGTAGCTCTTTTTCTAG 0.483000 24 87 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145756245 145756245 + Silent SNP C C A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr8:145756245C>A ENST00000276826.5 - 9 3099 c.2898G>T c.(2896-2898)ctG>ctT p.L966L ARHGAP39_ENST00000540274.1_Silent_p.L966L|ARHGAP39_ENST00000377307.2_Silent_p.L997L Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 966 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 ACCACAGCTTCAGCAGGGACG 0.706000 14 24 2.61681e-11 2.80624e-11 1 1 0 FOXC1 2296 broad.mit.edu 37 6 1610983 1610983 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr6:1610983G>A ENST00000380874.2 + 1 303 c.303G>A c.(301-303)ctG>ctA p.L101L NM_001453.2 NP_001444.2 Q12948 FOXC1_HUMAN forkhead box C1 101 L -> Q (in Ref. 5; AAK13575). anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis nuclear heterochromatin|transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 8 Ovarian(93;0.0733) all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895) Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168) AGATCACCCTGAACGGCATCT 0.597000 31 174 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186670114 186670114 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:186670114G>C ENST00000343098.5 + 17 16348 c.16348G>C c.(16348-16350)Gaa>Caa p.E5450Q FSIP2_ENST00000424728.1_Missense_Mutation_p.E5361Q NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 ACAGTTCATAGAAAAATGCAC 0.313000 4 70 0 0 1 0 0 IGHV3-35 28432 broad.mit.edu 37 14 106845429 106845429 + RNA SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr14:106845429G>C ENST00000390617.2 - 0 259 GCCCTTCACAGAGTCTGCATA 0.522000 52 172 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52676138 52676138 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr13:52676138C>G ENST00000355568.4 - 11 962 c.823G>C c.(823-825)Gaa>Caa p.E275Q NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 275 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) TGACTGAATTCTTCCTGAATG 0.468000 10 44 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43772592 43772592 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:43772592C>T ENST00000372476.3 + 4 645 c.566C>T c.(565-567)tCg>tTg p.S189L TIE1_ENST00000441333.2_Missense_Mutation_p.S189L|TIE1_ENST00000538015.1_Missense_Mutation_p.S189L NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 189 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CAGCCACCATCGAGCGGCATC 0.607000 51 84 0 0 1 0 0 NPM2 10361 broad.mit.edu 37 8 21883270 21883270 + Nonsense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr8:21883270C>G ENST00000397940.1 + 4 1272 c.257C>G c.(256-258)tCa>tGa p.S86* NPM2_ENST00000518119.1_Nonsense_Mutation_p.S86*|NPM2_ENST00000381530.5_Nonsense_Mutation_p.S86*|NPM2_ENST00000521157.1_Nonsense_Mutation_p.S86*|NPM2_ENST00000289820.6_Nonsense_Mutation_p.S86*|NPM2_ENST00000520180.1_3'UTR Q86SE8 NPM2_HUMAN nucleophosmin/nucleoplasmin 2 86 chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization cytoplasmic chromatin|nuclear chromatin histone binding|nucleic acid binding large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) CTCCAGGCCTCAGTCCTCCCC 0.597000 63 173 0 0 1 0 0 SH3RF1 57630 broad.mit.edu 37 4 170077719 170077719 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr4:170077719C>G ENST00000284637.9 - 3 846 c.505G>C c.(505-507)Gaa>Caa p.E169Q SH3RF1_ENST00000508685.1_5'UTR NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 169 SH3 1. Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) TACCAATTTTCATCCACTTGT 0.433000 23 105 0 0 1 0 0 HM13 81502 broad.mit.edu 37 20 30154072 30154072 + Silent SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr20:30154072C>G ENST00000335574.5 + 11 1132 c.1008C>G c.(1006-1008)gcC>gcG p.A336A HM13_ENST00000340852.5_Silent_p.A336A|HM13_ENST00000398174.3_Silent_p.A336A|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000376127.3_Silent_p.A294A NM_178580.1 NP_848695.1 Q8TCT9 HM13_HUMAN histocompatibility (minor) 13 336 membrane protein proteolysis cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane aspartic-type endopeptidase activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) TGGCGCTGGCCAAGGGAGAAG 0.617000 9 41 0 0 1 0 0 ARGFX 503582 broad.mit.edu 37 3 121305090 121305090 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:121305090G>C ENST00000334384.3 + 4 601 c.591G>C c.(589-591)gaG>gaC p.E197D NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 197 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E197D(1) kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) CCTTCACTGAGAGTTCTACCA 0.468000 38 169 0 0 1 0 0 UFSP2 55325 broad.mit.edu 37 4 186339890 186339890 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr4:186339890C>G ENST00000264689.6 - 3 233 c.117G>C c.(115-117)ttG>ttC p.L39F UFSP2_ENST00000502282.1_5'UTR NM_018359.3 NP_060829.2 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 39 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) ACAGGTCACTCAACACATGTT 0.348000 10 41 0 0 1 0 0 SLC46A1 113235 broad.mit.edu 37 17 26726681 26726681 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr17:26726681C>T ENST00000440501.1 - 6 1466 c.1371G>A c.(1369-1371)caG>caA p.Q457Q SLC46A1_ENST00000321666.5_Silent_p.Q428Q|SLC46A1_ENST00000584729.1_5'UTR|SARM1_ENST00000457710.3_3'UTR NM_080669.4 NP_542400.2 Q96NT5 PCFT_HUMAN solute carrier family 46 (folate transporter), member 1 457 cellular iron ion homeostasis|folic acid metabolic process apical plasma membrane|cytoplasm|integral to membrane folic acid binding|folic acid transporter activity|heme transporter activity lung(5) 5 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Folic Acid(DB00158) ATCAGGGGCTCTGGGGAAACT 0.562000 9 30 0 0 1 0 0 ZKSCAN4 387032 broad.mit.edu 37 6 28219640 28219640 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr6:28219640C>G ENST00000377294.2 - 1 362 c.119G>C c.(118-120)aGa>aCa p.R40T ZKSCAN4_ENST00000423974.2_Intron NM_019110.3 NP_061983.2 Q969J2 ZKSC4_HUMAN zinc finger with KRAB and SCAN domains 4 40 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 GCAGGGTGCTCTCACCTCCGC 0.701000 5 74 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113374459 113374459 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr3:113374459G>A ENST00000316407.4 - 7 6480 c.6070C>T c.(6070-6072)Ctt>Ttt p.L2024F KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.L2024F NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 2024 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TGACGTCCAAGAATCATACTG 0.463000 12 72 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154395085 154395085 + Missense_Mutation SNP C C A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr5:154395085C>A ENST00000435029.4 + 1 1826 c.1666C>A c.(1666-1668)Caa>Aaa p.Q556K NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 556 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CATTCAGTTTCAATACCAGGA 0.403000 20 35 8.34094e-07 8.66591e-07 1 1 0 RAB31 11031 broad.mit.edu 37 18 9859311 9859311 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr18:9859311C>T ENST00000578921.1 + 7 818 c.577C>T c.(577-579)Cgg>Tgg p.R193W RAB31_ENST00000577284.1_3'UTR NM_006868.3 NP_006859.2 Q13636 RAB31_HUMAN RAB31, member RAS oncogene family 192 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1) 10 AGCCAGCCGCCGGTGCTGTTG 0.577000 7 46 0 0 1 0 0 LPAR2 9170 broad.mit.edu 37 19 19737862 19737862 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr19:19737862C>G ENST00000542587.1 - 5 1134 c.232G>C c.(232-234)Gac>Cac p.D78H LPAR2_ENST00000407877.3_Missense_Mutation_p.D78H|LPAR2_ENST00000586703.1_Missense_Mutation_p.D78H Q9HBW0 LPAR2_HUMAN lysophosphatidic acid receptor 2 78 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration cell surface|integral to plasma membrane LIM domain binding|lipid binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 10 GCGAAGAGGTCAGCCGCGGCC 0.632000 6 33 0 0 1 0 0 CTAGE1 64693 broad.mit.edu 37 18 19995791 19995791 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr18:19995791G>C ENST00000391403.2 - 1 2087 c.1984C>G c.(1984-1986)Cct>Gct p.P662A NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 662 Pro-rich. integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) AGAGGTGGAGGAACAAAGCCA 0.473000 32 171 0 0 1 0 0 RASL11A 387496 broad.mit.edu 37 13 27847221 27847221 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr13:27847221G>A ENST00000241463.4 + 4 937 c.319G>A c.(319-321)Gag>Aag p.E107K RASL11A_ENST00000480803.1_3'UTR NM_206827.1 NP_996563.1 Q6T310 RSLBA_HUMAN RAS-like, family 11, member A 107 Small GTPase-like. positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent membrane|nucleolus GTP binding|GTPase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1) 10 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164) GCAGTGGGCCGAGGGTTTTCT 0.517000 4 85 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93773754 93773754 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr10:93773754C>G ENST00000265990.6 + 32 4860 c.4552C>G c.(4552-4554)Caa>Gaa p.Q1518E BTAF1_ENST00000544642.1_Missense_Mutation_p.Q346E NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1518 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) TAAAATTATTCAAGACTATTA 0.383000 18 94 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907294 153907294 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:153907294C>T ENST00000361217.4 - 18 3133 c.2715G>A c.(2713-2715)caG>caA p.Q905Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 905 Gln-rich. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgctgctgctgctgct 0.632000 4 73 0 0 1 0 0 SLC35G6 643664 broad.mit.edu 37 17 7386226 7386226 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr17:7386226C>T ENST00000412468.2 + 2 1038 c.923C>T c.(922-924)tCt>tTt p.S308F ZBTB4_ENST00000311403.4_Intron NM_001102614.1 NP_001096084.1 P0C7Q6 AMCL3_HUMAN solute carrier family 35, member G6 308 DUF6 2. integral to membrane GTGGCACCTTCTGACATCGTG 0.577000 4 163 0 0 1 0 0 FMO2 2327 broad.mit.edu 37 1 171174566 171174567 + Frame_Shift_Ins INS - - T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr1:171174566_171174567insT ENST00000441535.1 + 7 1093_1094 c.976_977insT c.(976-978)tttfs p.F326fs FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Frame_Shift_Ins_p.F326fs|RP1-127D3.4_ENST00000445909.1_RNA NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 326 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGATGTCATCATTTTTGCAACA 0.396 12 59 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710019 38710019 + RNA DEL T T - rs2005502 by1000genomes TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:38710019delT ENST00000417039.1 - 0 696 CTTtaaaaaataaataaataa 0.244 2 4 --- --- --- --- STAT1 6772 broad.mit.edu 37 2 191845380 191845399 + Splice_Site DEL GGGCTGGCGTTAGGACCTAA GGGCTGGCGTTAGGACCTAA - rs148573907 byFrequency TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr2:191845380_191845399delGGGCTGGCGTTAGGACCTAA ENST00000361099.3 - 19 1970_1985 c.1582_splice c.e19-1 p.528_splice STAT1_ENST00000409465.1_Splice_Site_p.528_splice|STAT1_ENST00000392322.3_Splice_Site_p.528_splice|STAT1_ENST00000392323.2_Splice_Site_p.530_splice|STAT1_ENST00000540176.1_3'UTR NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 528 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity p.A531T(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) GAGACCATCGGGGCTGGCGTTAGGACCTAAACAAATAAAA 0.436 10 53 --- --- --- --- CDH18 1016 broad.mit.edu 37 5 19747265 19747265 + Frame_Shift_Del DEL A A - TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr5:19747265delA ENST00000507958.1 - 6 1299 c.309delT c.(307-309)atfs p.I103fs CDH18_ENST00000382275.1_Frame_Shift_Del_p.I103fs|CDH18_ENST00000511273.1_Frame_Shift_Del_p.I103fs|CDH18_ENST00000506372.1_Frame_Shift_Del_p.I103fs|CDH18_ENST00000502796.1_Frame_Shift_Del_p.I103fs|CDH18_ENST00000274170.4_Frame_Shift_Del_p.I103fs Q13634 CAD18_HUMAN cadherin 18, type 2 103 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TGGTATCGTCAATGATAAATA 0.433 16 60 --- --- --- --- LOC153910 153910 broad.mit.edu 37 6 142860299 142860299 + RNA DEL T T - TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr6:142860299delT ENST00000447311.1 - 0 364 NR_027312.1 taggccagtatttttttttta 0.473 4 3 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396277 + RNA DEL G G - rs148140777 by1000genomes TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr10:118396277delG ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTT 0.423 2 4 --- --- --- --- LOC101929735 101929735 broad.mit.edu 37 14 22892201 22892202 + RNA INS - - A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr14:22892201_22892202insA ENST00000514473.2 - 0 225 AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000541008.1_RNA actaaaaatacaaaaaaaaaaa 0.545 2 4 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 2 4 --- --- --- --- DDX3X 1654 broad.mit.edu 37 X 41202088 41202089 + Splice_Site DEL GT GT - TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a57af901-b526-49ff-8fae-21ac6d6455d1 6fac8c8f-b381-4cb2-8701-0d6225b76804 g.chrX:41202088_41202089delGT ENST00000399959.2 + 6 1397_1398 c.543_splice c.e6+1 p.S181_splice DDX3X_ENST00000542215.1_Splice_Site_p.S225_splice|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Splice_Site_p.S165_splice|DDX3X_ENST00000441189.2_Intron NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 181 interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 CATATTGAAAGTGTGAGTATTT 0.386 HNSCC(61;0.18) 9 25 --- --- --- ---