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 OR1L1 26737 broad.mit.edu 37 9 125424836 125424836 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr9:125424836C>T ENST00000373686.1 + 1 992 c.992C>T c.(991-993)aCt>aTt p.T331I Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 331 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 ACCGTACTGACTCCTATGCTA 0.393000 45 69 0 0 1 0 0 UGT1A6 54578 broad.mit.edu 37 2 234602469 234602469 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:234602469C>T ENST00000305139.6 + 1 958 c.819C>T c.(817-819)ttC>ttT p.F273F UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_3'UTR|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Silent_p.F6F|UGT1A10_ENST00000344644.5_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000373424.1_Silent_p.F6F NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) ACATGGTCTTCATTGGAGGTA 0.433000 177 413 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47969775 47969775 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr21:47969775C>T ENST00000318711.7 + 22 2800 c.2617C>T c.(2617-2619)Cag>Tag p.Q873* DIP2A_ENST00000417564.2_Nonsense_Mutation_p.Q872*|DIP2A_ENST00000427143.2_Nonsense_Mutation_p.Q808*|DIP2A_ENST00000457905.3_Nonsense_Mutation_p.Q872*|DIP2A_ENST00000400274.1_Nonsense_Mutation_p.Q868* NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 872 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GGACAGCTTCCAGTGGATGAG 0.647000 37 75 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5041932 5041932 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:5041932G>A ENST00000251170.7 + 6 748 c.568G>A c.(568-570)Gat>Aat p.D190N NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 190 integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 CCGTGAGGAGGATGCCCGCAA 0.667000 5 15 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41038976 41038976 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:41038976C>T ENST00000399564.4 - 21 2526 c.2076G>A c.(2074-2076)ggG>ggA p.G692G MROH2B_ENST00000506092.2_Silent_p.G247G NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GGCTCTTTTTCCCAGAAAAAA 0.438000 14 55 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274319 39274319 + Missense_Mutation SNP G G C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:39274319G>C ENST00000391413.2 - 1 287 c.249C>G c.(247-249)agC>agG p.S83R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 83 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.S83R(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCTTGCAGCAGCTGGACACAC 0.662000 4 76 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123097534 123097534 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:123097534C>T ENST00000466202.1 - 12 2670 c.2094G>A c.(2092-2094)atG>atA p.M698I RP11-332K15.1_ENST00000419832.1_RNA|IQUB_ENST00000324698.6_Missense_Mutation_p.M698I Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 698 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TCCATCTGACCATGACCAGAT 0.483000 53 141 0 0 1 0 0 CSF3R 1441 broad.mit.edu 37 1 36932124 36932124 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:36932124G>A ENST00000373103.1 - 17 2973 c.2426C>T c.(2425-2427)cCc>cTc p.P809L CSF3R_ENST00000331941.5_Intron|CSF3R_ENST00000361632.4_Missense_Mutation_p.P782L|CSF3R_ENST00000373106.1_Missense_Mutation_p.P782L|CSF3R_ENST00000373104.1_Intron|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000440588.2_Missense_Mutation_p.P809L|CSF3R_ENST00000418048.2_Missense_Mutation_p.P782L|CSF3R_ENST00000338937.5_Missense_Mutation_p.P751S NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 782 cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) CTTGGGGCTGGGGGTGAGGCC 0.652000 5 21 0 0 1 0 0 SPATA20 64847 broad.mit.edu 37 17 48628176 48628176 + Silent SNP C C T rs146293806 TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:48628176C>T ENST00000006658.6 + 11 1401 c.1281C>T c.(1279-1281)ctC>ctT p.L427L SPATA20_ENST00000356488.4_Silent_p.L411L|SPATA20_ENST00000393244.3_Silent_p.L367L|SPATA20_ENST00000511937.1_3'UTR NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 411 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) TTCAGCAGCTCCTCCCGGAGC 0.627000 OREG0024568 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 155 0 0 1 0 0 ZNF816 125893 broad.mit.edu 37 19 53453437 53453437 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:53453437G>A ENST00000357666.4 - 5 1891 c.1591C>T c.(1591-1593)Cat>Tat p.H531Y ZNF816_ENST00000444460.2_Missense_Mutation_p.H531Y|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 531 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 TCCCCAGTATGAATTCTCCTA 0.413000 33 128 0 0 1 0 0 LEMD2 221496 broad.mit.edu 37 6 33744783 33744783 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:33744783G>A ENST00000293760.5 - 8 1328 c.1309C>T c.(1309-1311)Cca>Tca p.P437S LEMD2_ENST00000508327.1_Missense_Mutation_p.P135S NM_181336.3 NP_851853.1 Q8NC56 LEMD2_HUMAN LEM domain containing 2 437 integral to nuclear inner membrane central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1) 9 CCTACATATGGATAGCGCTCC 0.617000 31 83 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91859860 91859860 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:91859860G>A ENST00000370425.3 - 4 382 c.284C>T c.(283-285)cCt>cTt p.P95L HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 95 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TTTATCAGAAGGAAAGGCAAA 0.313000 15 48 0 0 1 0 0 CTSO 1519 broad.mit.edu 37 4 156864341 156864341 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:156864341G>A ENST00000433477.3 - 2 280 c.211C>T c.(211-213)Cag>Tag p.Q71* NM_001334.2 NP_001325.1 P43234 CATO_HUMAN cathepsin O 71 proteolysis lysosome cysteine-type endopeptidase activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1) 16 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) TAGGAAAACTGATTTATTCCA 0.318000 37 124 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94841674 94841674 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:94841674C>T ENST00000357742.4 + 1 180 c.180C>T c.(178-180)gcC>gcT p.A60A MCTP2_ENST00000543482.1_Silent_p.A60A|MCTP2_ENST00000451018.3_Silent_p.A60A|MCTP2_ENST00000331706.4_5'UTR NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 60 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) AGGCTGAGGCCTTGGCCCCAG 0.602000 22 65 0 0 1 0 0 DLX2 1746 broad.mit.edu 37 2 172966369 172966369 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:172966369C>T ENST00000234198.4 - 2 767 c.406G>A c.(406-408)Gag>Aag p.E136K DLX2_ENST00000466293.2_Missense_Mutation_p.E136K NM_004405.3 NP_004396.1 Q07687 DLX2_HUMAN distal-less homeobox 2 136 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.216) TCAAGGTCCTCCTTCTCTGCA 0.582000 18 68 0 0 1 0 0 COLQ 8292 broad.mit.edu 37 3 15495347 15495347 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:15495347G>A ENST00000383788.5 - 16 1412 c.1287C>T c.(1285-1287)acC>acT p.T429T COLQ_ENST00000383786.5_Silent_p.T395T|COLQ_ENST00000383787.2_Silent_p.T420T|COLQ_ENST00000435459.2_Silent_p.T419T|COLQ_ENST00000603808.1_Silent_p.T430T|COLQ_ENST00000383781.4_Silent_p.T419T|COLQ_ENST00000383785.2_3'UTR NM_005677.3 NP_005668.2 Q9Y215 COLQ_HUMAN collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 429 acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft endometrium(2)|large_intestine(4)|lung(10)|skin(3) 19 CAGGGAGATAGGTCTCGCATG 0.557000 11 21 0 0 1 0 0 LRIT2 340745 broad.mit.edu 37 10 85985197 85985197 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:85985197C>T ENST00000372113.4 - 1 85 c.80G>A c.(79-81)gGa>gAa p.G27E LRIT2_ENST00000538192.1_Missense_Mutation_p.G27E NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 27 LRRNT. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 GCAAGTGCATCCTGGCAGACA 0.473000 9 34 0 0 1 0 0 LTBP3 4054 broad.mit.edu 37 11 65318931 65318931 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:65318931C>T ENST00000301873.5 - 10 1831 c.1563G>A c.(1561-1563)gaG>gaA p.E521E LTBP3_ENST00000536982.1_Silent_p.E147E|LTBP3_ENST00000322147.4_Silent_p.E521E NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 521 extracellular region calcium ion binding|growth factor binding p.E521D(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 GCACTGACCTCTCCTCACTCA 0.637000 12 37 0 0 1 0 0 GCSAML 148823 broad.mit.edu 37 1 247737658 247737658 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:247737658G>A ENST00000366491.2 + 7 819 c.322G>A c.(322-324)Gat>Aat p.D108N RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000366489.1_Missense_Mutation_p.D108N|GCSAML_ENST00000463359.1_Missense_Mutation_p.D96N|GCSAML_ENST00000366488.4_Missense_Mutation_p.D128N|GCSAML_ENST00000527541.1_Missense_Mutation_p.D96N|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000527084.1_Missense_Mutation_p.D96N|GCSAML_ENST00000536561.1_Missense_Mutation_p.D108N germinal center-associated, signaling and motility-like CCATGAGCATGATTATGAAGT 0.438000 44 64 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156844765 156844765 + Missense_Mutation SNP A A G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:156844765A>G ENST00000368196.3 + 10 1421 c.1301A>G c.(1300-1302)aAc>aGc p.N434S NTRK1_ENST00000358660.3_Missense_Mutation_p.N434S|NTRK1_ENST00000392302.2_Missense_Mutation_p.N404S|NTRK1_ENST00000524377.1_Missense_Mutation_p.N440S NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 440 activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CTTGTGCTCAACAAATGTGGA 0.572000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 53 129 0 0 1 0 0 PRAME 23532 broad.mit.edu 37 22 22891015 22891015 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr22:22891015G>A ENST00000543184.1 - 5 1866 c.1004C>T c.(1003-1005)tCg>tTg p.S335L PRAME_ENST00000402697.1_Missense_Mutation_p.S335L|PRAME_ENST00000539862.1_Missense_Mutation_p.S319L|PRAME_ENST00000405655.3_Missense_Mutation_p.S335L|PRAME_ENST00000424204.2_Missense_Mutation_p.S319L|PRAME_ENST00000398743.2_Missense_Mutation_p.S335L|PRAME_ENST00000398741.1_Missense_Mutation_p.S335L NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 335 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) ATCCCCTTCCGAAAGCCGGCA 0.542000 68 138 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3598685 3598685 + RNA SNP G G T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:3598685G>T ENST00000301749.7 - 0 3077 NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GGAGGTGAGGGTGCGGTTTTC 0.627000 3 7 6.4e-05 6.41212e-05 1 1 0 CPZ 8532 broad.mit.edu 37 4 8603098 8603098 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:8603098G>A ENST00000360986.4 + 3 544 c.370G>A c.(370-372)Ggc>Agc p.G124S CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.G113S|CPZ_ENST00000506287.1_3'UTR NM_001014447.2 NP_001014447.1 Q66K79 CBPZ_HUMAN carboxypeptidase Z 124 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CATCTGCGAGGGCCTGCGGGA 0.692000 6 7 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150841035 150841035 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:150841035G>A ENST00000370357.4 + 14 2063 c.1818G>A c.(1816-1818)caG>caA p.Q606Q NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 606 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) GATTTTTACAGGCCCAACCCA 0.493000 35 55 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179613743 179613743 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:179613743C>T ENST00000360870.5 - 46 13606 c.13384G>A c.(13384-13386)Gaa>Aaa p.E4462K TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 590 Ig-like 24. 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) TTTTCAAATTCGATAATTCTA 0.348000 15 59 0 0 1 0 0 MARVELD3 91862 broad.mit.edu 37 16 71663283 71663283 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:71663283G>A ENST00000268485.3 + 2 525 c.481G>A c.(481-483)Gag>Aag p.E161K MARVELD3_ENST00000567501.1_5'UTR|MARVELD3_ENST00000299952.4_Missense_Mutation_p.E161K|MARVELD3_ENST00000567566.1_Missense_Mutation_p.E161K|MARVELD3_ENST00000565261.1_Silent_p.R106R NM_052858.3 NP_443090.4 Q96A59 MALD3_HUMAN MARVEL domain containing 3 161 Pro-rich. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) ACCCCCTTCGGAGAGATATCT 0.507000 17 50 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60485599 60485599 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:60485599C>T ENST00000360469.5 + 9 1398 c.1310C>T c.(1309-1311)cCa>cTa p.P437L CDH4_ENST00000543233.1_Missense_Mutation_p.P363L NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 437 Cadherin 3. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) AGTGGGGATCCATCCGGGCAC 0.602000 11 48 0 0 1 0 0 CEACAM19 56971 broad.mit.edu 37 19 45175224 45175224 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:45175224C>T ENST00000358777.4 + 1 501 c.21C>T c.(19-21)acC>acT p.T7T CEACAM19_ENST00000403660.3_Silent_p.T7T|CTB-171A8.1_ENST00000590796.1_RNA NM_001127893.1|NM_020219.3 NP_001121365.1|NP_064604.2 Q7Z692 CEA19_HUMAN carcinoembryonic antigen-related cell adhesion molecule 19 7 integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 11 Lung NSC(12;0.00308)|all_lung(12;0.00806) Prostate(69;0.0376) CCATGGGGACCCAGGGCTGCT 0.572000 7 10 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 716085 716085 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:716085C>T ENST00000549091.1 + 36 4668 c.4576C>T c.(4576-4578)Cac>Tac p.H1526Y WDR90_ENST00000547944.1_Missense_Mutation_p.H123Y|WDR90_ENST00000293879.4_Missense_Mutation_p.H1524Y|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000315764.4_Missense_Mutation_p.H123Y NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1524 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GATGCACCCCCACCCGGTGGC 0.672000 20 67 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73066682 73066682 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:73066682C>T ENST00000263674.3 + 4 3908 c.3558C>T c.(3556-3558)ctC>ctT p.L1186L NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1186 DH. actin cytoskeleton organization|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 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CTGCCTTTCTCAAGTTCCTAG 0.557000 18 52 0 0 1 0 0 THRB 7068 broad.mit.edu 37 3 24185190 24185190 + Silent SNP C C T rs142830943 byFrequency TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:24185190C>T ENST00000396671.2 - 8 888 c.540G>A c.(538-540)ctG>ctA p.L180L THRB_ENST00000416420.1_Silent_p.L180L|THRB_ENST00000356447.4_Silent_p.L180L|THRB_ENST00000280696.5_Silent_p.L195L NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 180 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) TGCTGTCATCCAGCACCACTG 0.577000 24 52 0 0 1 0 0 AGAP3 116988 broad.mit.edu 37 7 150839270 150839270 + Missense_Mutation SNP C C G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:150839270C>G ENST00000397238.2 + 15 1980 c.1980C>G c.(1978-1980)aaC>aaG p.N660K AGAP3_ENST00000463381.1_Missense_Mutation_p.N329K NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 624 Arf-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 GGAACCAGAACGCAGCTCTGG 0.632000 62 213 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126004025 126004025 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:126004025G>A ENST00000299308.3 + 4 1140 c.1132G>A c.(1132-1134)Gga>Aga p.G378R NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 378 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AGTGGACTTTGGAATTGATAA 0.463000 32 76 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25016461 25016461 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr22:25016461C>T ENST00000400382.1 + 8 1304 c.549C>T c.(547-549)acC>acT p.T183T GGT1_ENST00000400383.1_Silent_p.T183T|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400380.1_Silent_p.T183T|GGT1_ENST00000406383.2_Silent_p.T183T|GGT1_ENST00000248923.4_Silent_p.T183T P19440 GGT1_HUMAN gamma-glutamyltransferase 1 183 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) ACAAGCGGACCGTCATCGAGC 0.677000 4 84 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176903435 176903435 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:176903435G>A ENST00000367654.2 - 16 2561 c.2548C>T c.(2548-2550)Cgt>Tgt p.R850C ASTN1_ENST00000361833.2_Missense_Mutation_p.R842C|ASTN1_ENST00000367657.3_Missense_Mutation_p.R842C|ASTN1_ENST00000424564.2_Missense_Mutation_p.R842C O14525 ASTN1_HUMAN astrotactin 1 850 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AAATCTGCACGAGATGTAGCC 0.507000 19 48 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784482 9784482 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:9784482G>A ENST00000304374.2 + 1 1225 c.829G>A c.(829-831)Gcc>Acc p.A277T NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 277 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GAGCAGCGCAGCCTGCGCGCC 0.642000 14 54 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60904063 60904063 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:60904063G>A ENST00000252999.3 - 34 4350 c.4284C>T c.(4282-4284)tcC>tcT p.S1428S NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1428 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TATAGAAGAGGGAGAGGGAAG 0.657000 23 79 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141802440 141802440 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:141802440G>A ENST00000475668.2 + 69 8028 c.7974G>A c.(7972-7974)ggG>ggA p.G2658G MGAM_ENST00000549489.2_Silent_p.G1762G O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1762 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATACCTATGGGAAAGGACTCT 0.418000 8 19 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60926762 60926762 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:60926762G>A ENST00000252999.3 - 6 1020 c.954C>T c.(952-954)ttC>ttT p.F318F LAMA5_ENST00000370692.3_Silent_p.F318F|LAMA5_ENST00000370677.3_Silent_p.F318F NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 318 Laminin EGF-like 1. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCCTCACCTGAACGGGTCCG 0.627000 5 19 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105189954 105189954 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:105189954C>T ENST00000428173.2 + 25 4456 c.4153C>T c.(4153-4155)Cca>Tca p.P1385S NRK_ENST00000243300.9_Missense_Mutation_p.P1384S Q7Z2Y5 NRK_HUMAN Nik related kinase 1384 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GGCAGCTGATCCAGTGAACCG 0.448000 HNSCC(51;0.14) 9 22 0 0 1 0 0 DEPDC7 91614 broad.mit.edu 37 11 33053943 33053943 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:33053943C>T ENST00000311388.3 + 6 1405 c.1029C>T c.(1027-1029)ttC>ttT p.F343F DEPDC7_ENST00000241051.3_Silent_p.F352F NM_139160.2 NP_631899.2 Q96QD5 DEPD7_HUMAN DEP domain containing 7 352 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 TTTTAGATTTCCAAAATAGAG 0.333000 43 95 0 0 1 0 0 FKBP9L 360132 broad.mit.edu 37 7 55755677 55755677 + RNA SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:55755677C>T ENST00000455909.1 - 0 389 NR_027340.1|NR_027342.1 FK506 binding protein 9-like endometrium(1)|kidney(1)|lung(3) 5 TGAGAGTGTTCCTAtgagaag 0.408000 27 47 0 0 1 0 0 CENPO 79172 broad.mit.edu 37 2 25016350 25016350 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:25016350G>A ENST00000473706.1 + 1 337 c.8G>A c.(7-9)gGa>gAa p.G3E CENPO_ENST00000380834.2_5'UTR|CENPO_ENST00000260662.1_5'UTR NM_001199803.1 NP_001186732.1 Q9BU64 CENPO_HUMAN centromere protein O 0 cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) TGGATGGCGGGAATTCTCGCT 0.632000 14 40 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118537066 118537066 + Missense_Mutation SNP A A C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:118537066A>C ENST00000336338.5 - 35 5206 c.5141T>G c.(5140-5142)cTc>cGc p.L1714R NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1714 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CCTTGACCGGAGATTAGGAGG 0.423000 50 61 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103090193 103090193 + Translation_Start_Site SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:103090193G>A ENST00000295269.4 + 0 432 NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 TCCACACAGGGGTGTAGGTAG 0.502000 20 49 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 150840688 150840688 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:150840688G>A ENST00000474524.1 + 3 361 c.323G>A c.(322-324)cGa>cAa p.R108Q MED12L_ENST00000309237.4_Missense_Mutation_p.R108Q|MED12L_ENST00000273432.4_Missense_Mutation_p.R108Q|MED12L_ENST00000422248.2_Missense_Mutation_p.R108Q NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 108 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTTACTGCTCGATCCCAGAGT 0.358000 13 26 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79410080 79410080 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:79410080C>T ENST00000307745.7 + 9 1705 c.1705C>T c.(1705-1707)Ctg>Ttg p.L569L GCGCAAGTCCCTGGAGCTGGC 0.701000 15 28 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70532143 70532143 + Missense_Mutation SNP C C A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr18:70532143C>A ENST00000327305.6 - 3 777 c.120G>T c.(118-120)caG>caT p.Q40H NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.Q39H|NETO1_ENST00000299430.2_Missense_Mutation_p.Q39H|NETO1_ENST00000583169.1_Missense_Mutation_p.Q40H NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 40 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) AAGTTCCACACTGCACTGACT 0.388000 14 45 1.36491e-13 1.38987e-13 1 1 0 NACA2 342538 broad.mit.edu 37 17 59668251 59668251 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:59668251C>T ENST00000521764.1 - 1 312 c.291G>A c.(289-291)tgG>tgA p.W97* NM_199290.3 NP_954984.1 Q9H009 NACA2_HUMAN nascent polypeptide-associated complex alpha subunit 2 97 NAC-A/B. protein transport cytoplasm|nucleus p.W97*(1) large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) TCTTAGATTTCCAGATAGTGA 0.448000 116 272 0 0 1 0 0 POM121C 100101267 broad.mit.edu 37 7 75053355 75053355 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:75053355G>A ENST00000453279.2 - 12 1889 c.1025C>T c.(1024-1026)cCc>cTc p.P342L POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000257665.5_Missense_Mutation_p.P584L NM_001099415.1 NP_001092885.1 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 584 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.|Ser-rich. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 CAGGCTCGGGGGAGTCTGCAT 0.632000 32 131 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324797 152324797 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:152324797C>T ENST00000388718.5 - 3 5537 c.5465G>A c.(5464-5466)cGa>cAa p.R1822Q FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1822 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGTGTGTCCTCGTGAGTGTGG 0.522000 129 313 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220494022 220494022 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:220494022C>T ENST00000358055.3 + 4 886 c.374C>T c.(373-375)cCc>cTc p.P125L SLC4A3_ENST00000317151.3_Missense_Mutation_p.P125L|SLC4A3_ENST00000273063.6_Missense_Mutation_p.P125L|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Missense_Mutation_p.P125L|SLC4A3_ENST00000373762.3_Missense_Mutation_p.P125L P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 125 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGACCCCTCCCATCCAGGAG 0.637000 11 20 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14862611 14862611 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:14862611C>T ENST00000285046.5 + 1 2143 c.2033C>T c.(2032-2034)tCt>tTt p.S678F FGD5_ENST00000543601.1_Missense_Mutation_p.S437F NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 678 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GTGTCTTCCTCTAGGTCCTCT 0.502000 20 41 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220494144 220494144 + Splice_Site SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:220494144G>A ENST00000358055.3 + 4 1007 c.e4+1 SLC4A3_ENST00000317151.3_Splice_Site|SLC4A3_ENST00000273063.6_Splice_Site|SLC4A3_ENST00000497589.1_Splice_Site|SLC4A3_ENST00000373760.2_Splice_Site|SLC4A3_ENST00000373762.3_Splice_Site P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAAGGCAAAGGTAGGGGCTTC 0.617000 7 19 0 0 1 0 0 LAT2 7462 broad.mit.edu 37 7 73638359 73638359 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:73638359G>A ENST00000460943.1 + 12 1349 c.460G>A c.(460-462)Gag>Aag p.E154K LAT2_ENST00000275635.7_Missense_Mutation_p.E154K|LAT2_ENST00000398475.1_Missense_Mutation_p.E154K|LAT2_ENST00000344995.5_Missense_Mutation_p.E154K NM_032464.2 NP_115853.2 Q9GZY6 NTAL_HUMAN linker for activation of T cells family, member 2 154 B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 6 TGCCCAGCAGGAGGGCATAGG 0.627000 12 37 0 0 1 0 0 CCDC104 112942 broad.mit.edu 37 2 55749278 55749278 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:55749278G>A ENST00000349456.4 + 2 304 c.156G>A c.(154-156)gaG>gaA p.E52E CCDC104_ENST00000339012.3_Silent_p.E77E|CCDC104_ENST00000407816.3_Silent_p.E52E|CCDC104_ENST00000406691.3_Silent_p.E52E|CCDC104_ENST00000403007.3_Silent_p.E52E Q96G28 CC104_HUMAN coiled-coil domain containing 104 52 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2) 14 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CCTATACAGAGATTCATCAGG 0.234000 6 16 0 0 1 0 0 OR5R1 219479 broad.mit.edu 37 11 56185601 56185601 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:56185601C>T ENST00000312253.1 - 1 107 c.108G>A c.(106-108)ctG>ctA p.L36L NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) GCACTGTGACCAGATAGATAA 0.428000 23 85 0 0 1 0 0 CALCRL 10203 broad.mit.edu 37 2 188245470 188245470 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:188245470C>T ENST00000409998.1 - 7 1010 c.229G>A c.(229-231)Gat>Aat p.D77N CALCRL_ENST00000392370.3_Missense_Mutation_p.D77N|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.D77N Q16602 CALRL_HUMAN calcitonin receptor-like 77 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) GCTGCAACATCGTTCCAGCAG 0.413000 10 31 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2315774 2315774 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:2315774C>T ENST00000381458.5 + 11 1718 c.1655C>T c.(1654-1656)cCc>cTc p.P552L NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 552 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) GCAGAACATCCCATAAAGATC 0.547000 25 70 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95734615 95734615 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:95734615C>T ENST00000311106.3 - 11 1793 c.1556G>A c.(1555-1557)gGa>gAa p.G519E PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.G472E NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 519 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATGAAGGTCTCCTCTTCGGGA 0.343000 18 65 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123490021 123490021 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:123490021C>T ENST00000280562.5 - 6 923 c.718G>A c.(718-720)Gag>Aag p.E240K PITPNM2_ENST00000542749.1_Missense_Mutation_p.E240K|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Missense_Mutation_p.E240K|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Missense_Mutation_p.E240K Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 240 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CGGATGTTCTCCATGCTCAGC 0.612000 46 146 0 0 1 0 0 CHP1 11261 broad.mit.edu 37 15 41571573 41571573 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:41571573C>T ENST00000334660.5 + 7 814 c.574C>T c.(574-576)Cga>Tga p.R192* CHP1_ENST00000558351.1_3'UTR|CHP1_ENST00000560397.1_Nonsense_Mutation_p.R151* NM_007236.4 NP_009167.1 Q99653 CHP1_HUMAN calcineurin-like EF-hand protein 1 192 potassium ion transport|small GTPase mediated signal transduction potassium channel regulator activity AATGAGCATCCGATTTCTTCA 0.443000 16 32 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29606651 29606651 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:29606651C>T ENST00000389048.3 - 5 2135 c.1229G>A c.(1228-1230)gGa>gAa p.G410E ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 410 MAM 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GCTGCGGTTTCCACTGGAGAT 0.512000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 26 51 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129162698 129162698 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:129162698C>T ENST00000540052.1 + 7 4211 c.4167C>T c.(4165-4167)gtC>gtT p.V1389V BCORL1_ENST00000218147.7_Silent_p.V1389V|BCORL1_ENST00000303743.5_Silent_p.V1389V|BCORL1_ENST00000359304.2_Silent_p.V1259V NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1389 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CCAACAAAGTCCAGGGGATCT 0.493000 OREG0019921 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 96 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48530055 48530055 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:48530055G>A ENST00000537810.1 - 52 7677 c.7073C>T c.(7072-7074)aCa>aTa p.T2358I FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.T2358I|FRYL_ENST00000358350.4_Missense_Mutation_p.T2358I O94915 FRYL_HUMAN FRY-like 2358 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 CTTTTCTCTTGTTCTTCGCTA 0.358000 21 37 0 0 1 0 0 TET2 54790 broad.mit.edu 37 4 106156562 106156562 + Missense_Mutation SNP A A G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:106156562A>G ENST00000540549.1 + 3 2323 c.1463A>G c.(1462-1464)aAt>aGt p.N488S TET2_ENST00000413648.2_Missense_Mutation_p.N488S|TET2_ENST00000305737.2_Missense_Mutation_p.N488S|TET2_ENST00000380013.4_Missense_Mutation_p.N488S|TET2_ENST00000513237.1_Missense_Mutation_p.N509S|TET2_ENST00000394764.1_Missense_Mutation_p.N488S|TET2_ENST00000545826.1_Missense_Mutation_p.N488S Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 488 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) GTGAACAGGAATGACATACAG 0.458000 """Mis N, F""" MDS 29 73 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100687012 100687012 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:100687012C>T ENST00000306151.4 + 3 12379 c.12315C>T c.(12313-12315)ttC>ttT p.F4105F NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4105 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCACTTCCTTCCCCACGGTGA 0.542000 26 90 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27463243 27463243 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:27463243G>A ENST00000295736.5 - 9 1337 c.1267C>T c.(1267-1269)Cct>Tct p.P423S SLC4A7_ENST00000454389.1_Missense_Mutation_p.P432S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.P308S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P419S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.P299S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P419S|SLC4A7_ENST00000455077.1_Missense_Mutation_p.P304S|SLC4A7_ENST00000388777.4_Intron|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P304S|SLC4A7_ENST00000425128.2_Missense_Mutation_p.P415S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P415S NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 423 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 GCACCCGTAGGAATTTTTCTC 0.388000 33 65 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56321627 56321627 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:56321627G>A ENST00000443188.1 - 5 1059 c.349C>T c.(349-351)Cat>Tat p.H117Y NLRP11_ENST00000589093.1_Missense_Mutation_p.H117Y|NLRP11_ENST00000360133.3_Missense_Mutation_p.H117Y|NLRP11_ENST00000589824.2_Missense_Mutation_p.H117Y|NLRP11_ENST00000592953.1_Missense_Mutation_p.H18Y NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 117 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) AATTTATAATGAAATTTTCCA 0.388000 17 45 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121643801 121643801 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:121643801C>T ENST00000489711.1 + 13 1433 c.1045C>T c.(1045-1047)Ccc>Tcc p.P349S SLC15A2_ENST00000295605.2_Missense_Mutation_p.P318S NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 349 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) GGTTCTAAATCCCCTTCTGGT 0.393000 40 138 0 0 1 0 0 OR5P2 120065 broad.mit.edu 37 11 7817731 7817731 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:7817731G>A ENST00000329434.2 - 1 789 c.759C>T c.(757-759)ttC>ttT p.F253F RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCACATAAATGAAGGTAATGG 0.502000 46 91 0 0 1 0 0 SLFN11 91607 broad.mit.edu 37 17 33680005 33680005 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:33680005C>T ENST00000394566.1 - 7 2348 c.2076G>A c.(2074-2076)aaG>aaA p.K692K SLFN11_ENST00000308377.4_Silent_p.K692K NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 692 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGGGCCACCCTTTGCTCTCC 0.483000 46 130 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72147103 72147103 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr13:72147103G>A ENST00000305425.4 - 4 1596 c.1174C>T c.(1174-1176)Cct>Tct p.P392S DACH1_ENST00000359684.2_Missense_Mutation_p.P444S|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 442 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) AGGCTGACAGGAATTAGAGGG 0.438000 18 44 0 0 1 0 0 C12orf4 57102 broad.mit.edu 37 12 4609466 4609466 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:4609466G>A ENST00000261250.3 - 11 1365 c.1278C>T c.(1276-1278)atC>atT p.I426I C12orf4_ENST00000545746.1_Silent_p.I426I NM_020374.2 NP_065107.1 Q9NQ89 CL004_HUMAN chromosome 12 open reading frame 4 426 NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) AAGCAACATGGATTTCTGAGA 0.383000 25 55 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156880118 156880118 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:156880118G>A ENST00000338302.3 + 15 1996 c.1771G>A c.(1771-1773)Gag>Aag p.E591K PEAR1_ENST00000292357.7_Missense_Mutation_p.E591K Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 591 EGF-like 7. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGTCTCCCTGAGAATGGCAA 0.642000 OREG0013890 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 69 202 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16024554 16024554 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:16024554C>T ENST00000402119.3 - 12 1989 c.1563G>A c.(1561-1563)gcG>gcA p.A521A CYP4F11_ENST00000326742.7_3'UTR|CYP4F11_ENST00000248041.7_Silent_p.A521A NM_021187.3 NP_067010.3 Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 521 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 ACTGTGAGTTCGCACCCAGGG 0.592000 8 25 0 0 1 0 0 POLR3E 55718 broad.mit.edu 37 16 22343421 22343421 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:22343421G>A ENST00000299853.5 + 20 2152 c.1985G>A c.(1984-1986)cGg>cAg p.R662Q POLR3E_ENST00000418581.2_Missense_Mutation_p.R626Q|POLR3E_ENST00000564209.1_Intron|POLR3E_ENST00000359210.4_Intron NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 662 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) AAAAATTACCGGGTACGCCGA 0.398000 37 91 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33464970 33464970 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr9:33464970G>A ENST00000379471.2 - 21 2773 c.2686C>T c.(2686-2688)Ccc>Tcc p.P896S NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.P844S Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 896 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) CCAACCTGGGGGGAACTAAAG 0.512000 21 31 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9012839 9012839 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:9012839C>T ENST00000397910.4 - 34 38808 c.38605G>A c.(38605-38607)Gag>Aag p.E12869K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12871 SEA 6. Missing (in Ref. 3; AAK74120). 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 ATGTCCTCCTCGTACTGCAGG 0.582000 65 145 0 0 1 0 0 COL6A5 256076 broad.mit.edu 37 3 130159114 130159114 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:130159114G>A ENST00000265379.6 + 35 6426 c.5932G>A c.(5932-5934)Gag>Aag p.E1978K COL6A5_ENST00000432398.2_Missense_Mutation_p.E1978K A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 1978 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 AGCAAAGGATGAGTTTAAGGC 0.403000 10 30 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169586332 169586332 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:169586332G>A ENST00000263686.6 - 3 452 c.415C>T c.(415-417)Ccg>Tcg p.P139S SELP_ENST00000367791.2_Missense_Mutation_p.P139S|SELP_ENST00000367786.2_Missense_Mutation_p.P139S|SELP_ENST00000367794.2_Missense_Mutation_p.P139S|SELP_ENST00000367793.2_Missense_Mutation_p.P139S|SELP_ENST00000458599.2_Missense_Mutation_p.P139S|SELP_ENST00000367792.2_Missense_Mutation_p.P139S|SELP_ENST00000367788.2_Missense_Mutation_p.P139S NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 139 C-type lectin. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GGGGCTGACGGACTCTTGATG 0.463000 56 142 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17464352 17464352 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:17464352C>T ENST00000302539.4 - 10 1670 c.1545G>A c.(1543-1545)gaG>gaA p.E515E ABCC8_ENST00000389817.3_Silent_p.E515E NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 515 ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GGAAGATGTTCTCCCAGGCGT 0.597000 26 77 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156928857 156928857 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:156928857C>T ENST00000368194.3 - 16 2399 c.1360G>A c.(1360-1362)Gag>Aag p.E454K ARHGEF11_ENST00000361409.2_Missense_Mutation_p.E414K NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 414 RGSL. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGGATCTGCTCTTGGATCTCA 0.602000 18 39 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33881305 33881305 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:33881305G>A ENST00000504830.1 - 2 743 c.408C>T c.(406-408)gcC>gcT p.A136A ADAMTS12_ENST00000352040.3_Silent_p.A136A|ADAMTS12_ENST00000515401.1_Silent_p.A136A NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 136 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GGCAGAGGGGGGCAGAGGAAG 0.527000 HNSCC(64;0.19) 31 91 0 0 1 0 0 MAP7D2 256714 broad.mit.edu 37 X 20030588 20030588 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:20030588G>A ENST00000379651.3 - 14 1846 c.1828C>T c.(1828-1830)Ccc>Tcc p.P610S MAP7D2_ENST00000443379.3_Missense_Mutation_p.P565S|MAP7D2_ENST00000379643.5_Missense_Mutation_p.P651S|MAP7D2_ENST00000452324.3_Missense_Mutation_p.P558S|MAP7D2_ENST00000543767.1_Missense_Mutation_p.P495S NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 610 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 ATGTCTTGGGGATAAGTTTCT 0.448000 6 107 0 0 1 0 0 SNX19 399979 broad.mit.edu 37 11 130784838 130784838 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:130784838G>A ENST00000265909.4 - 1 1566 c.997C>T c.(997-999)Cac>Tac p.H333Y SNX19_ENST00000533214.1_Missense_Mutation_p.H333Y|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron NM_014758.2 NP_055573.2 Q92543 SNX19_HUMAN sorting nexin 19 333 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) ACAGCTTCGTGGCCTTCTTCA 0.507000 24 81 0 0 1 0 0 LSS 4047 broad.mit.edu 37 21 47616176 47616176 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr21:47616176G>A ENST00000397728.3 - 18 1754 c.1676C>T c.(1675-1677)aCc>aTc p.T559I LSS_ENST00000356396.4_Missense_Mutation_p.T559I|LSS_ENST00000457828.2_Missense_Mutation_p.T479I|LSS_ENST00000522411.1_Missense_Mutation_p.T548I NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 559 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) CTGCGTGAGGGTCTCCCTGGA 0.542000 14 31 0 0 1 0 0 LGR4 55366 broad.mit.edu 37 11 27406903 27406903 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:27406903G>A ENST00000379214.4 - 5 957 c.514C>T c.(514-516)Ccc>Tcc p.P172S LGR4_ENST00000389858.4_Missense_Mutation_p.P148S|LGR4_ENST00000480977.2_Missense_Mutation_p.P124S NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 172 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 TTGCTGAGGGGGTGCACAGGC 0.527000 29 68 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105924123 105924123 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:105924123G>A ENST00000393359.2 - 2 1062 c.636C>T c.(634-636)atC>atT p.I212I TGFBRAP1_ENST00000258449.1_Silent_p.I212I Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 212 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 TCCTCTTGACGATCGGCGGCC 0.592000 55 166 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52547738 52547738 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:52547738C>T ENST00000321725.6 + 31 3352 c.3276C>T c.(3274-3276)gtC>gtT p.V1092V NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1092 FAS1 3. 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) TCCAGAGGGTCTGGGTGCAGA 0.607000 17 32 0 0 1 0 0 DLG3 1741 broad.mit.edu 37 X 69722078 69722078 + Missense_Mutation SNP T T C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:69722078T>C ENST00000194900.4 + 21 2850 c.2509T>C c.(2509-2511)Tct>Cct p.S837P DLG3_ENST00000374360.3_Missense_Mutation_p.S805P|DLG3_ENST00000374355.3_Missense_Mutation_p.S500P|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000542398.1_Missense_Mutation_p.S354P Q92796 DLG3_HUMAN discs, large homolog 3 (Drosophila) 805 axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1) 22 Renal(35;0.156) TGAGGACCAGTCTGGGCACTA 0.423000 10 21 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 30009039 30009039 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:30009039G>A ENST00000346128.6 - 23 4452 c.3978C>T c.(3976-3978)atC>atT p.I1326I TJP1_ENST00000356107.6_Silent_p.I1326I|TJP1_ENST00000400011.2_Silent_p.I1250I|TJP1_ENST00000545208.2_Silent_p.I1246I NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 1326 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GAGGTTCTGGGATCCTAACAG 0.343000 12 43 0 0 1 0 0 KRT23 25984 broad.mit.edu 37 17 39081698 39081698 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:39081698C>T ENST00000209718.3 - 7 1474 c.1050G>A c.(1048-1050)caG>caA p.Q350Q AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Silent_p.Q213Q NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 350 Coil 2.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) ATTCATTGTTCTGCCGCTCCA 0.547000 32 66 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24434540 24434540 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:24434540G>A ENST00000330966.7 - 3 350 c.188C>T c.(187-189)gCc>gTc p.A63V MYOM3_ENST00000329601.7_Missense_Mutation_p.A62V|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Missense_Mutation_p.A62V Q5VTT5 MYOM3_HUMAN myomesin 3 62 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GTAGTCCGCGGCGCTGAACTC 0.632000 19 33 0 0 1 0 0 C17orf98 388381 broad.mit.edu 37 17 36993474 36993474 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:36993474C>T ENST00000398575.4 - 2 292 c.227G>A c.(226-228)aGg>aAg p.R76K NM_001080465.2 NP_001073934.1 A8MV24 CQ098_HUMAN chromosome 17 open reading frame 98 76 endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3) 14 CCAGCCATCCCTTCCTGTACC 0.532000 34 121 0 0 1 0 0 BRD9 65980 broad.mit.edu 37 5 878589 878589 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:878589G>A ENST00000323510.4 - 8 863 c.864C>T c.(862-864)tcC>tcT p.S288S BRD9_ENST00000467963.1_Silent_p.S384S|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000388890.4_Silent_p.S268S|BRD9_ENST00000483173.1_Silent_p.S331S Q9H8M2 BRD9_HUMAN bromodomain containing 9 384 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) TAGTGGCACTGGAGAGAAAGG 0.562000 10 85 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58573698 58573698 + Missense_Mutation SNP T T A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:58573698T>A ENST00000317147.5 - 35 5298 c.4966A>T c.(4966-4968)Ata>Tta p.I1656L CNOT1_ENST00000569240.1_Missense_Mutation_p.I1651L|CNOT1_ENST00000245138.4_Missense_Mutation_p.I507L NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1656 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AGAGCAGCTATGGCATCCCGA 0.438000 28 58 0 0 1 0 0 SAMD4A 23034 broad.mit.edu 37 14 55251330 55251330 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:55251330C>T ENST00000251091.5 + 10 2161 c.1856C>T c.(1855-1857)gCc>gTc p.A619V SAMD4A_ENST00000554335.1_Missense_Mutation_p.A707V|SAMD4A_ENST00000555192.1_Missense_Mutation_p.A334V|SAMD4A_ENST00000357634.3_Missense_Mutation_p.A706V|SAMD4A_ENST00000392067.3_Missense_Mutation_p.A707V NM_001161576.2 NP_001155048.2 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4A 707 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 ACCGAACACGCCCTGGGAGGT 0.552000 23 100 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39933057 39933057 + Silent SNP T T C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:39933057T>C ENST00000342274.4 - 4 1904 c.1542A>G c.(1540-1542)ccA>ccG p.P514P BCOR_ENST00000378444.4_Silent_p.P514P|BCOR_ENST00000397354.3_Silent_p.P514P|BCOR_ENST00000378455.4_Silent_p.P514P NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 514 Interaction with BCL6. heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 CGTTAGGACTTGGCCCGGGCA 0.507000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 17 35 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10696118 10696118 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr18:10696118C>T ENST00000302079.6 - 43 6804 c.6805G>A c.(6805-6807)Gga>Aga p.G2269R PIEZO2_ENST00000538948.1_Missense_Mutation_p.G226R|PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2294R|PIEZO2_ENST00000285141.4_Missense_Mutation_p.G124R|PIEZO2_ENST00000503781.3_Missense_Mutation_p.G2269R Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2269 integral to membrane ion channel activity AAGTGAATTCCGAACACAAGA 0.502000 45 96 0 0 1 0 0 CDKL4 344387 broad.mit.edu 37 2 39406387 39406387 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:39406387G>A ENST00000378803.1 - 8 867 c.868C>T c.(868-870)Caa>Taa p.Q290* CDKL4_ENST00000395035.3_Nonsense_Mutation_p.Q290* NM_001009565.1 NP_001009565.1 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 290 cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1) 12 all_hematologic(82;0.248) TGGGCCTCTTGAAAAGAATCA 0.403000 26 76 0 0 1 0 0 ZNF572 137209 broad.mit.edu 37 8 125989792 125989792 + Missense_Mutation SNP G G A rs144443575 TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:125989792G>A ENST00000319286.5 + 3 1436 c.1282G>A c.(1282-1284)Gtg>Atg p.V428M NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TTCCACCCTGGTGATTCACCA 0.443000 HNSCC(60;0.17) 32 87 0 0 1 0 0 OR4E2 26686 broad.mit.edu 37 14 22134091 22134091 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:22134091C>T ENST00000408935.1 + 1 795 c.795C>T c.(793-795)ttC>ttT p.F265F NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) ACACCAGCTTCTCCATTGACA 0.512000 14 42 0 0 1 0 0 OAS1 4938 broad.mit.edu 37 12 113346562 113346562 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:113346562C>T ENST00000452357.2 + 2 592 c.402C>T c.(400-402)ttC>ttT p.F134F OAS1_ENST00000551241.1_Silent_p.F134F|OAS1_ENST00000553185.1_Silent_p.F134F|OAS1_ENST00000202917.5_Silent_p.F134F|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Silent_p.F134F NM_002534.2 NP_002525.2 P00973 OAS1_HUMAN 2'-5'-oligoadenylate synthetase 1, 40/46kDa 134 Necessary for binding to dsRNA. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 CGCTCAGCTTCGTACTGAGTT 0.572000 30 68 0 0 1 0 0 GABRG3 2567 broad.mit.edu 37 15 27572012 27572012 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:27572012C>T ENST00000333743.6 + 4 581 c.327C>T c.(325-327)ttC>ttT p.F109F GABRG3_ENST00000555083.1_Silent_p.F109F NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 109 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F109F(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) GCCTTCGATTCAACAGCACAA 0.423000 36 112 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79414164 79414164 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:79414164C>T ENST00000307745.7 + 15 3266 c.3266C>T c.(3265-3267)aCc>aTc p.T1089I ATGCAAACCACCGCCCCGGGG 0.677000 11 39 0 0 1 0 0 STEAP2 261729 broad.mit.edu 37 7 89861701 89861701 + Silent SNP T T A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:89861701T>A ENST00000287908.3 + 5 1629 c.1236T>A c.(1234-1236)atT>atA p.I412I STEAP2_ENST00000394629.2_Silent_p.I412I|STEAP2_ENST00000394622.2_Silent_p.I412I|STEAP2_ENST00000394626.1_Silent_p.I412I|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000394621.2_Silent_p.I412I NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 412 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) ATGTTTTAATTTATGGATGGA 0.378000 6 29 0 0 1 0 0 ATP8B1 5205 broad.mit.edu 37 18 55361822 55361822 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr18:55361822C>T ENST00000536015.1 - 11 1140 c.1021G>A c.(1021-1023)Gtt>Att p.V341I RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.V341I|RP11-35G9.5_ENST00000588925.1_RNA NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 341 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) ACCGTGTAAACCATGTAGTTC 0.294000 6 22 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18876370 18876370 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:18876370G>A ENST00000266505.7 - 4 505 c.242C>T c.(241-243)tCt>tTt p.S81F PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.S79F Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 81 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) CCGGTTTTCAGAATATGTGTT 0.343000 18 36 0 0 1 0 0 CIZ1 25792 broad.mit.edu 37 9 130941631 130941631 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr9:130941631G>A ENST00000538431.1 - 8 1102 c.855C>T c.(853-855)gcC>gcT p.A285A CIZ1_ENST00000357558.5_Silent_p.A285A|CIZ1_ENST00000393608.1_Silent_p.A285A|CIZ1_ENST00000372948.3_Silent_p.A285A|CIZ1_ENST00000277465.4_Silent_p.A285A|CIZ1_ENST00000372954.1_Silent_p.A261A|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000325721.8_Silent_p.A256A|CIZ1_ENST00000372938.5_Silent_p.A285A|CIZ1_ENST00000541172.1_Silent_p.A184A NM_001257975.1 NP_001244904.1 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 285 Gln-rich. nucleus nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 CTGTCATCCGGGCCTGCGGCT 0.577000 30 50 0 0 1 0 0 CT45A1 541466 broad.mit.edu 37 X 134856771 134856771 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:134856771G>A ENST00000370741.3 + 5 791 c.546G>A c.(544-546)aaG>aaA p.K182K CT45A1_ENST00000482795.1_3'UTR NM_001017417.1 NP_001017417.1 Q5HYN5 CT451_HUMAN cancer/testis antigen family 45, member A1 182 AGCACCTTAAGAAGAAACTGA 0.383000 22 470 0 0 1 0 0 STEAP2 261729 broad.mit.edu 37 7 89854874 89854874 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:89854874G>A ENST00000287908.3 + 2 871 c.478G>A c.(478-480)Gat>Aat p.D160N STEAP2_ENST00000394629.2_Missense_Mutation_p.D160N|STEAP2_ENST00000394622.2_Missense_Mutation_p.D160N|STEAP2_ENST00000394626.1_Missense_Mutation_p.D160N|STEAP2_ENST00000402625.2_Missense_Mutation_p.D160N|STEAP2_ENST00000394632.1_Missense_Mutation_p.D160N|STEAP2_ENST00000394621.2_Missense_Mutation_p.D160N NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 160 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) AGGACCTAAGGATGCCAGCCG 0.338000 47 98 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111779807 111779807 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:111779807C>T ENST00000261726.6 + 21 3763 c.3609C>T c.(3607-3609)ttC>ttT p.F1203F NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1203 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 TCCTCTCCTTCCAGCTCAACC 0.617000 22 78 0 0 1 0 0 ZNF544 27300 broad.mit.edu 37 19 58773948 58773948 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:58773948C>T ENST00000269829.4 + 7 2450 c.1976C>T c.(1975-1977)cCt>cTt p.P659L ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.P631L|ZNF544_ENST00000600044.1_Missense_Mutation_p.P631L|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599953.1_Missense_Mutation_p.P517L|ZNF544_ENST00000415203.2_Missense_Mutation_p.P631L|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596652.1_Missense_Mutation_p.P659L NM_014480.2 NP_055295.2 Q6NX49 ZN544_HUMAN zinc finger protein 544 659 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) GGTGAGAAACCTTTTGAGTGT 0.458000 40 111 0 0 1 0 0 ARIH2 10425 broad.mit.edu 37 3 49017013 49017013 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:49017013C>T ENST00000356401.4 + 12 1399 c.1060C>T c.(1060-1062)Caa>Taa p.Q354* ARIH2_ENST00000449376.1_Nonsense_Mutation_p.Q354*|ARIH2_ENST00000490095.1_3'UTR NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 354 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) GAACCAGAGCCAACAAGCCCA 0.498000 21 69 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25419986 25419986 + RNA SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:25419986C>T ENST00000549301.1 + 0 721 SNHG14_ENST00000441592.2_RNA tccctgacttccctcaacaCT 0.517000 48 112 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907232 164907232 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:164907232G>A ENST00000475390.1 - 2 1830 c.1387C>T c.(1387-1389)Ctt>Ttt p.L463F SLITRK3_ENST00000241274.3_Missense_Mutation_p.L463F O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 463 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TTGCCATTAAGGAAGAGGCTC 0.443000 HNSCC(40;0.11) 23 49 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65180989 65180989 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr18:65180989G>A ENST00000310045.7 - 2 2360 c.887C>T c.(886-888)tCc>tTc p.S296F CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 286 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) CTGTGTGACGGATTTAGCTGT 0.393000 37 84 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61511583 61511583 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:61511583C>T ENST00000257215.5 + 20 2867 c.2751C>T c.(2749-2751)atC>atT p.I917I NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 917 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) CCGAGTTCATCGACAGCCTCT 0.667000 22 48 0 0 1 0 0 RPS6KL1 83694 broad.mit.edu 37 14 75375609 75375609 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:75375609C>T ENST00000555647.1 - 10 1674 c.1387G>A c.(1387-1389)Gaa>Aaa p.E463K RPS6KL1_ENST00000557413.1_Missense_Mutation_p.E463K|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.E432K|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.E463K Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 463 Protein kinase. ribosome ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(234;0.00658) TCACAGGCTTCCGTCAGCTCG 0.582000 20 58 0 0 1 0 0 PHF14 9678 broad.mit.edu 37 7 11076096 11076096 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:11076096C>T ENST00000403050.3 + 9 2106 c.1654C>T c.(1654-1656)Cga>Tga p.R552* PHF14_ENST00000445996.2_Nonsense_Mutation_p.R267* NM_014660.3 NP_055475.2 O94880 PHF14_HUMAN PHD finger protein 14 552 zinc ion binding NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) AGAACTAGCTCGATCTACCAG 0.433000 8 38 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119739810 119739810 + Missense_Mutation SNP C C A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:119739810C>A ENST00000541757.1 + 12 1126 c.746C>A c.(745-747)gCt>gAt p.A249D MARCO_ENST00000327097.4_Missense_Mutation_p.A327D Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 327 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 CCTGGCAGTGCTGGCTCCCCT 0.612000 17 81 1.15088e-07 1.16075e-07 1 1 0 HEPH 9843 broad.mit.edu 37 X 65486494 65486494 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:65486494C>T ENST00000519389.1 + 21 3798 c.3619C>T c.(3619-3621)Ctt>Ttt p.L1207F HEPH_ENST00000441993.2_Missense_Mutation_p.L1155F|HEPH_ENST00000336279.5_Missense_Mutation_p.L886F|HEPH_ENST00000343002.2_Missense_Mutation_p.L1153F|HEPH_ENST00000419594.1_Missense_Mutation_p.L964F|HEPH_ENST00000374727.3_Missense_Mutation_p.L1156F Q9BQS7 HEPH_HUMAN hephaestin 1153 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CAGCTTCAAGCTTCTGTCTTT 0.507000 17 25 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70551549 70551549 + Missense_Mutation SNP G G A rs149620212 TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:70551549G>A ENST00000323786.5 - 3 370 c.349C>T c.(349-351)Cgt>Tgt p.R117C COG4_ENST00000393612.4_Missense_Mutation_p.R113C|COG4_ENST00000564653.1_Missense_Mutation_p.R117C NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 113 Interacts with STX5. Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding p.R117C(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) TCAAGCTGACGAACTTTGCTG 0.458000 29 62 0 0 1 0 0 STEAP3 55240 broad.mit.edu 37 2 120005756 120005756 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:120005756G>A ENST00000354888.5 + 4 1498 c.994G>A c.(994-996)Gac>Aac p.D332N STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Missense_Mutation_p.D332N|STEAP3_ENST00000393110.2_Missense_Mutation_p.D342N|STEAP3_ENST00000409811.1_Missense_Mutation_p.D332N|STEAP3_ENST00000393106.2_Missense_Mutation_p.D332N|STEAP3_ENST00000450943.2_Missense_Mutation_p.D332N|STEAP3_ENST00000393107.2_Missense_Mutation_p.D332N|STEAP3_ENST00000393108.2_Missense_Mutation_p.D332N NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase 332 Ferric oxidoreductase. apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 CCACCGCTACGACCTGGTCAA 0.657000 13 48 0 0 1 0 0 ASB15 142685 broad.mit.edu 37 7 123270105 123270105 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:123270105C>T ENST00000451558.1 + 13 2047 c.1526C>T c.(1525-1527)cCt>cTt p.P509L ASB15_ENST00000275699.3_Missense_Mutation_p.P509L|ASB15_ENST00000451215.1_Missense_Mutation_p.P509L|ASB15_ENST00000540573.1_Missense_Mutation_p.P509L|ASB15_ENST00000434204.1_Missense_Mutation_p.P509L Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 509 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 GATTATGTTCCTCTGTGTGCT 0.378000 28 70 0 0 1 0 0 HSDL1 83693 broad.mit.edu 37 16 84163956 84163956 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:84163956C>T ENST00000219439.4 - 4 477 c.301G>A c.(301-303)Gag>Aag p.E101K HSDL1_ENST00000434463.3_Missense_Mutation_p.E101K NM_001146051.1|NM_031463.4 NP_001139523.1|NP_113651.4 Q3SXM5 HSDL1_HUMAN hydroxysteroid dehydrogenase like 1 101 mitochondrion oxidoreductase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 AACTTCTCCTCGTTCCGACTA 0.463000 53 135 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701378 56701378 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:56701378C>T ENST00000586855.2 - 5 1619 c.1306G>A c.(1306-1308)Gag>Aag p.E436K ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.E436K A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 436 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 AACGGCCTCTCCCCGGTGTGG 0.562000 13 48 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65165729 65165729 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:65165729C>T ENST00000381210.3 - 8 847 c.737G>A c.(736-738)gGa>gAa p.G246E TECRL_ENST00000507440.1_Missense_Mutation_p.G246E|TECRL_ENST00000513125.1_5'UTR NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 246 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 TTGCCTGTTTCCAAATGCTGG 0.299000 45 94 0 0 1 0 0 RPL18A 6142 broad.mit.edu 37 19 17972151 17972151 + Missense_Mutation SNP A A C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:17972151A>C ENST00000600147.1 + 2 104 c.68A>C c.(67-69)cAc>cCc p.H23P RPL18A_ENST00000599870.1_5'UTR|RPL18A_ENST00000599898.1_Intron|RPL18A_ENST00000222247.5_Missense_Mutation_p.H23P Q02543 RL18A_HUMAN ribosomal protein L18a 23 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1) 5 CCCAAATGCCACACGCCGCCC 0.547000 8 26 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704158 56704158 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:56704158C>T ENST00000586855.2 - 2 577 c.264G>A c.(262-264)gtG>gtA p.V88V ZSCAN5B_ENST00000358992.3_Silent_p.V88V A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 88 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 ACTGCTCCATCACCAGCATGT 0.562000 7 44 0 0 1 0 0 INTS3 65123 broad.mit.edu 37 1 153735242 153735242 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:153735242C>T ENST00000456435.1 + 15 2123 c.937C>T c.(937-939)Cat>Tat p.H313Y INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000318967.2_Missense_Mutation_p.H519Y|INTS3_ENST00000512605.1_Missense_Mutation_p.H313Y|INTS3_ENST00000435409.2_Missense_Mutation_p.H519Y Q68E01 INT3_HUMAN integrator complex subunit 3 520 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GATGGACAACCATATGTCGGA 0.478000 11 55 0 0 1 0 0 GSK3B 2932 broad.mit.edu 37 3 119634983 119634983 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:119634983G>A ENST00000264235.8 - 5 1498 c.516C>T c.(514-516)atC>atT p.I172I GSK3B_ENST00000316626.5_Silent_p.I172I NM_001146156.1|NM_002093.3 NP_001139628.1|NP_002084.2 P49841 GSK3B_HUMAN glycogen synthase kinase 3 beta 172 Protein kinase. axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding endometrium(1)|large_intestine(8)|lung(7)|prostate(2) 18 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) CAAAGGAATGGATATAGGCTA 0.358000 19 49 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106680961 106680961 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:106680961C>T ENST00000526355.1 - 5 1918 c.1450G>A c.(1450-1452)Gaa>Aaa p.E484K GUCY1A2_ENST00000282249.2_Missense_Mutation_p.E484K|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.E505K NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 484 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) TTCTCTTCTTCCAGGGCCTGG 0.433000 21 72 0 0 1 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48896967 48896967 + Missense_Mutation SNP G G A rs148943401 byFrequency TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:48896967G>A ENST00000394754.1 + 9 3311 c.3197G>A c.(3196-3198)gGa>gAa p.G1066E GTF2A1L_ENST00000430487.2_Missense_Mutation_p.G328E|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.G362E|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.G1066E|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.G1019E|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.G1066E|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.G1066E NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 1019 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GAAGAAATAGGAAGTACAAGA 0.383000 29 102 0 0 1 0 0 TRIM22 10346 broad.mit.edu 37 11 5719637 5719637 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:5719637G>A ENST00000379965.3 + 4 889 c.612G>A c.(610-612)aaG>aaA p.K204K TRIM5_ENST00000380027.1_Intron NM_001199573.1|NM_006074.4 NP_001186502.1|NP_006065.2 Q8IYM9 TRI22_HUMAN tripartite motif containing 22 204 immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) AGCTGCAAAAGCTGGAGGAAG 0.498000 19 55 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164760924 164760924 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:164760924C>T ENST00000264382.3 - 17 1989 c.1927G>A c.(1927-1929)Gaa>Aaa p.E643K NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 643 Isomaltase. 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) CAAAGTTCTTCTGTGGTTTCA 0.368000 HNSCC(35;0.089) 22 41 0 0 1 0 0 BRF2 55290 broad.mit.edu 37 8 37702335 37702335 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:37702335G>A ENST00000220659.6 - 4 1053 c.933C>T c.(931-933)gcC>gcT p.A311A BRF2_ENST00000520601.1_3'UTR|GPR124_ENST00000315215.7_3'UTR NM_018310.3 NP_060780.2 Q9HAW0 BRF2_HUMAN BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit 311 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 12 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) CATCCCGAAAGGCAGAGCGGA 0.582000 19 59 0 0 1 0 0 FAM117B 150864 broad.mit.edu 37 2 203622097 203622097 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:203622097C>T ENST00000303116.6 + 6 1276 c.534C>T c.(532-534)tcC>tcT p.S178S FAM117B_ENST00000392238.2_Silent_p.S422S NM_173511.3 NP_775782.2 Q6P1L5 F117B_HUMAN family with sequence similarity 117, member B 422 breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 TCACCATTTCCAATGAAGGTA 0.537000 29 52 0 0 1 0 0 C16orf11 146325 broad.mit.edu 37 16 615050 615050 + Missense_Mutation SNP C C A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:615050C>A ENST00000409413.3 + 3 1738 c.1459C>A c.(1459-1461)Ccc>Acc p.P487T NM_145270.2 NP_660313.1 P0CG20 CP011_HUMAN chromosome 16 open reading frame 11 487 central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 GTGGGGGCGGCCCGAGCTGGG 0.721000 7 17 1.06961e-07 1.07982e-07 1 1 0 USP20 10868 broad.mit.edu 37 9 132637876 132637876 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr9:132637876G>A ENST00000315480.4 + 21 2414 c.2256G>A c.(2254-2256)ctG>ctA p.L752L USP20_ENST00000372429.3_Silent_p.L752L|USP20_ENST00000358355.1_Silent_p.L752L Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 752 DUSP 1. 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) TCGACGACCTGGTGGTCATCC 0.637000 34 54 0 0 1 0 0 BBOX1 8424 broad.mit.edu 37 11 27147251 27147251 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:27147251G>A ENST00000263182.3 + 8 1255 c.887G>A c.(886-888)aGg>aAg p.R296K BBOX1_ENST00000529202.1_Missense_Mutation_p.R296K|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.R296K|BBOX1_ENST00000528583.1_Missense_Mutation_p.R296K NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 296 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) aacgcaactagggacacaata 0.343000 8 29 0 0 1 0 0 TAS2R14 50840 broad.mit.edu 37 12 11090894 11090894 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:11090894C>T ENST00000537503.1 - 1 968 c.913G>A c.(913-915)Ggg>Agg p.G305R TAS2R14_ENST00000381852.4_5'UTR|PRR4_ENST00000536668.1_Intron NM_023922.1 NP_076411.1 Q9NYV8 T2R14_HUMAN taste receptor, type 2, member 14 305 detection of chemical stimulus involved in sensory perception of bitter taste bitter taste receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 8 GAGGGCTCCCCATCTTTGAAC 0.363000 42 79 0 0 1 0 0 C1orf94 84970 broad.mit.edu 37 1 34666411 34666411 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:34666411G>A ENST00000488417.1 + 3 1168 c.1048G>A c.(1048-1050)Ggg>Agg p.G350R C1orf94_ENST00000373374.3_Missense_Mutation_p.G160R NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 160 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) AAAGGGTCAAGGGAGCCTCTT 0.592000 38 75 0 0 1 0 0 KTN1 3895 broad.mit.edu 37 14 56125297 56125297 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:56125297C>T ENST00000416613.1 + 29 2998 c.2926C>T c.(2926-2928)Caa>Taa p.Q976* KTN1_ENST00000395314.3_Nonsense_Mutation_p.Q976*|KTN1_ENST00000395308.1_Nonsense_Mutation_p.Q953*|KTN1_ENST00000438792.2_Nonsense_Mutation_p.Q976*|KTN1_ENST00000413890.2_Nonsense_Mutation_p.Q953*|KTN1_ENST00000395311.1_Nonsense_Mutation_p.Q953*|KTN1_ENST00000395309.3_Nonsense_Mutation_p.Q976*|KTN1_ENST00000554507.1_Nonsense_Mutation_p.Q271* Q86UP2 KTN1_HUMAN kinectin 1 (kinesin receptor) 976 microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 GTTTAAGTCCCAAATTGAGCA 0.289000 T RET papillary thryoid 24 69 0 0 1 0 0 ELOVL4 6785 broad.mit.edu 37 6 80626597 80626597 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:80626597G>A ENST00000369816.4 - 6 973 c.673C>T c.(673-675)Caa>Taa p.Q225* NM_022726.3 NP_073563.1 Q9GZR5 ELOV4_HUMAN ELOVL fatty acid elongase 4 225 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) ACATGGAATTGAATCTGAAAA 0.418000 17 42 0 0 1 0 0 ITGA1 3672 broad.mit.edu 37 5 52206085 52206085 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:52206085G>A ENST00000282588.6 + 14 2151 c.1693G>A c.(1693-1695)Gag>Aag p.E565K NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 565 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) AAACAAAAATGAGCCATGCGG 0.443000 30 62 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160676315 160676315 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:160676315C>T ENST00000263636.4 - 29 4102 c.4075G>A c.(4075-4077)Gat>Aat p.D1359N LY75_ENST00000553424.1_Missense_Mutation_p.D1359N|LY75_ENST00000554112.1_Missense_Mutation_p.D1359N|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D1359N|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.D1359N NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) GTTTGAATATCCCAGAAGCCG 0.353000 27 77 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282675 152282675 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:152282675C>T ENST00000368799.1 - 3 4722 c.4687G>A c.(4687-4689)Gaa>Aaa p.E1563K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1563 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGGAAGGTTCATGGTGACGT 0.587000 Ichthyosis 128 315 0 0 1 0 0 KIAA0513 9764 broad.mit.edu 37 16 85106555 85106555 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:85106555G>A ENST00000566428.1 + 4 1085 c.454G>A c.(454-456)Gag>Aag p.E152K KIAA0513_ENST00000538274.1_Missense_Mutation_p.E152K|KIAA0513_ENST00000258180.3_Missense_Mutation_p.E152K|KIAA0513_ENST00000567328.1_Missense_Mutation_p.E152K O60268 K0513_HUMAN KIAA0513 152 cytoplasm breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.234) GTGTGTCTCAGAGGCAACCTT 0.547000 25 66 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9068217 9068217 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:9068217G>A ENST00000397910.4 - 3 19432 c.19229C>T c.(19228-19230)tCc>tTc p.S6410F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6412 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 GCCTTGGATGGATGTTCTGCT 0.488000 43 102 0 0 1 0 0 ITGB8 3696 broad.mit.edu 37 7 20403340 20403340 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:20403340C>T ENST00000222573.3 + 2 892 c.208C>T c.(208-210)Caa>Taa p.Q70* ITGB8_ENST00000537992.1_5'UTR NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 70 cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 ATGGTGTGTTCAAGAGGTGTG 0.428000 10 15 0 0 1 0 0 FAAH 2166 broad.mit.edu 37 1 46877286 46877286 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:46877286C>T ENST00000243167.8 + 12 1403 c.1319C>T c.(1318-1320)tCg>tTg p.S440L NM_001441.2 NP_001432.2 O00519 FAAH1_HUMAN fatty acid amide hydrolase 440 fatty acid catabolic process cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 22 Acute lymphoblastic leukemia(166;0.155) Propofol(DB00818)|Thiopental(DB00599) CTGCCCAGTTCGGCTGGAAAA 0.597000 11 28 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183574952 183574952 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:183574952G>A ENST00000511685.1 + 6 1140 c.1017G>A c.(1015-1017)caG>caA p.Q339Q TENM3_ENST00000406950.2_Silent_p.Q339Q teneurin transmembrane protein 3 TCAACTGGCAGCTACAGCAGA 0.428000 16 20 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248436323 248436323 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:248436323G>A ENST00000318021.2 - 1 815 c.794C>T c.(793-795)tCc>tTc p.S265F NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATGGTTAGTGGACCTATGGGA 0.483000 10 285 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40440365 40440365 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:40440365G>A ENST00000319592.4 - 4 1255 c.546C>T c.(544-546)atC>atT p.I182I RBM47_ENST00000295971.7_Silent_p.I182I|RBM47_ENST00000381795.6_Silent_p.I182I|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Silent_p.I182I|RBM47_ENST00000514014.1_Silent_p.I144I A0AV96 RBM47_HUMAN RNA binding motif protein 47 182 RRM 2. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 TGGCGTAGACGATCACGTCCA 0.632000 44 104 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8485953 8485953 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr9:8485953G>A ENST00000381196.4 - 25 3407 c.2864C>T c.(2863-2865)aCc>aTc p.T955I PTPRD_ENST00000356435.5_Missense_Mutation_p.T955I|PTPRD_ENST00000358503.5_Missense_Mutation_p.T933I|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.T955I|PTPRD_ENST00000360074.4_Missense_Mutation_p.T942I|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 955 Fibronectin type-III 7. 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) ATAAAGAAGGGTATACTTGGT 0.478000 TSP Lung(15;0.13) 27 69 0 0 1 0 0 C11orf84 144097 broad.mit.edu 37 11 63585827 63585827 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:63585827C>T ENST00000294244.4 + 3 896 c.597C>T c.(595-597)ctC>ctT p.L199L NM_138471.1 NP_612480.1 Q9BUA3 CK084_HUMAN chromosome 11 open reading frame 84 199 Pro-rich. endometrium(3)|kidney(1)|lung(3)|skin(1) 8 TCCGCCCCCTCGAGCTTCCTG 0.597000 28 76 0 0 1 0 0 DRD1 1812 broad.mit.edu 37 5 174868954 174868954 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:174868954C>T ENST00000393752.2 - 2 2141 c.1149G>A c.(1147-1149)aaG>aaA p.K383K NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 383 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) GATTGCACTCCTTGGAGATGG 0.537000 33 84 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91774779 91774779 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:91774779C>T ENST00000389857.6 - 17 3008 c.2922G>A c.(2920-2922)atG>atA p.M974I NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 974 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TTTCTTCTTTCATGGCTAGTG 0.398000 36 70 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34262985 34262985 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:34262985C>T ENST00000262622.3 + 4 1050 c.292C>T c.(292-294)Ccg>Tcg p.P98S CHST8_ENST00000434302.1_Missense_Mutation_p.P98S|CHST8_ENST00000438847.2_Missense_Mutation_p.P98S NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 98 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) GCCTCAACCCCCGCTGCAGAG 0.667000 11 41 0 0 1 0 0 NXF5 55998 broad.mit.edu 37 X 101091804 101091804 + Splice_Site SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:101091804C>T ENST00000361708.2 - 16 1442 c.e16-1 NXF5_ENST00000537026.1_Intron|NXF5_ENST00000473265.2_Intron Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 ACACCACCACCTGAGAGTTAC 0.498000 41 45 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98348912 98348912 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:98348912G>A ENST00000370192.3 - 2 158 c.58C>T c.(58-60)Cct>Tct p.P20S DPYD_ENST00000306031.5_Missense_Mutation_p.P20S|DPYD_ENST00000423006.2_Intron NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 20 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TGTGTTCGAGGATTTAAAGCC 0.313000 13 52 0 0 1 0 0 SLC1A7 6512 broad.mit.edu 37 1 53555537 53555537 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:53555537G>A ENST00000371494.4 - 9 1423 c.1296C>T c.(1294-1296)atC>atT p.I432I SLC1A7_ENST00000488036.1_5'UTR NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 432 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) AGGTGAGCACGATGACCATGG 0.622000 28 82 0 0 1 0 0 C8orf4 56892 broad.mit.edu 37 8 40011145 40011145 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:40011145C>T ENST00000315792.3 + 1 157 c.94C>T c.(94-96)Cgt>Tgt p.R32C NM_020130.4 NP_064515.1 Q9NR00 CH004_HUMAN chromosome 8 open reading frame 4 32 apoptosis breast(1)|large_intestine(1)|ovary(1) 3 Ovarian(28;0.0173) all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141) LUSC - Lung squamous cell carcinoma(45;0.000149) KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) CACAGCCTCTCGTAAGAAAGC 0.502000 25 60 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193042716 193042716 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:193042716G>A ENST00000342358.4 - 14 1728 c.1611C>T c.(1609-1611)atC>atT p.I537I NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 537 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CATTGAGAAGGATCAGAGAGT 0.552000 60 156 0 0 1 0 0 SCAPER 49855 broad.mit.edu 37 15 76797204 76797204 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:76797204G>A ENST00000538941.2 - 24 3151 c.2212C>T c.(2212-2214)Cct>Tct p.P738S SCAPER_ENST00000563290.1_Missense_Mutation_p.P984S|SCAPER_ENST00000324767.7_Missense_Mutation_p.P984S NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 983 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 ACTTACTTAGGAGGAATTCTT 0.378000 8 12 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74043938 74043938 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:74043938C>T ENST00000409561.1 + 3 2709 c.2588C>T c.(2587-2589)cCt>cTt p.P863L NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 863 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 CCCACTGTTCCTGAGCCAGTA 0.522000 25 57 0 0 1 0 0 SIRT3 23410 broad.mit.edu 37 11 233184 233184 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:233184G>A ENST00000382743.4 - 3 607 c.505C>T c.(505-507)Cag>Tag p.Q169* SIRT3_ENST00000529382.1_Nonsense_Mutation_p.Q27*|SIRT3_ENST00000528702.1_5'UTR|SIRT3_ENST00000532956.1_Nonsense_Mutation_p.Q169*|SIRT3_ENST00000525319.1_Nonsense_Mutation_p.Q88*|SIRT3_ENST00000524564.1_Nonsense_Mutation_p.Q105* NM_001017524.2|NM_012239.5 NP_001017524.1|NP_036371.1 Q9NTG7 SIRT3_HUMAN sirtuin 3 169 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding endometrium(1)|lung(5)|urinary_tract(1) 7 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129) TCGTACTGCTGGAGGTTGCTG 0.547000 22 55 0 0 1 0 0 NDRG4 65009 broad.mit.edu 37 16 58542880 58542880 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:58542880C>T ENST00000394282.4 + 13 1307 c.900C>T c.(898-900)tcC>tcT p.S300S NDRG4_ENST00000563799.1_Silent_p.S266S|NDRG4_ENST00000394279.2_Silent_p.S280S|NDRG4_ENST00000562999.1_Silent_p.S248S|NDRG4_ENST00000356752.4_Silent_p.S278S|NDRG4_ENST00000258187.5_Silent_p.S280S|NDRG4_ENST00000568640.1_Silent_p.S266S|NDRG4_ENST00000569923.1_Silent_p.S193S|NDRG4_ENST00000570248.1_Silent_p.S248S|NDRG4_ENST00000566192.1_Silent_p.S248S NM_001130487.1 NP_001123959.1 Q9ULP0 NDRG4_HUMAN NDRG family member 4 248 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 AGTGCAACTCCAAACTGGACC 0.617000 9 26 0 0 1 0 0 LRRC37A5P 652972 broad.mit.edu 37 9 114371322 114371322 + RNA SNP T T A rs4978450 by1000genomes TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr9:114371322T>A ENST00000374304.1 - 0 477 TTTCTGTTCATTCTGGGCTTC 0.483000 4 34 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95186442 95186442 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:95186442G>A ENST00000027335.3 - 6 595 c.471C>T c.(469-471)gcC>gcT p.A157A CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.A157A NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 157 Cadherin 2. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CATTGGGAGTGGCCGGATCAT 0.418000 60 165 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54304614 54304614 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:54304614C>T ENST00000324134.6 - 7 2791 c.2623G>A c.(2623-2625)Gag>Aag p.E875K NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000345770.5_Missense_Mutation_p.E876K|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Missense_Mutation_p.E875K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E875K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E876K NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 875 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding p.E875*(1) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GAGGCCAGCTCGTCACAGGCA 0.527000 12 30 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130832468 130832468 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:130832468G>A ENST00000357462.5 - 15 2670 c.2577C>T c.(2575-2577)gtC>gtT p.V859V POTEF_ENST00000409914.2_Silent_p.V859V A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 859 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CAGTGTGGGTGACCCCGTCAC 0.612000 26 62 0 0 1 0 0 E2F6 1876 broad.mit.edu 37 2 11593908 11593908 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:11593908C>T ENST00000381525.3 - 3 449 c.180G>A c.(178-180)aaG>aaA p.K60K E2F6_ENST00000362009.4_Silent_p.K60K|E2F6_ENST00000307236.4_Silent_p.K28K|E2F6_ENST00000542100.1_5'UTR|E2F6_ENST00000546212.1_5'UTR NM_198256.2 NP_937987.2 O75461 E2F6_HUMAN E2F transcription factor 6 60 negative regulation of transcription from RNA polymerase II promoter MLL1 complex|transcription factor complex DNA binding|transcription corepressor activity cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168) AACGAGGTCTCTTCACTTTTA 0.328000 20 32 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103787 53103787 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:53103787C>T ENST00000408890.4 + 1 439 c.423C>T c.(421-423)atC>atT p.I141I NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 141 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCATCGGGATCGCGCCCCCTG 0.716000 17 40 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113673986 113673986 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:113673986G>A ENST00000003302.4 - 23 2824 c.2756C>T c.(2755-2757)tCc>tTc p.S919F USP28_ENST00000544967.1_Missense_Mutation_p.S595F|USP28_ENST00000260188.5_Missense_Mutation_p.S887F|USP28_ENST00000545540.1_Missense_Mutation_p.S762F NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 919 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TACCAGGTAGGAAAGTGCCTC 0.473000 21 78 0 0 1 0 0 GALNT5 11227 broad.mit.edu 37 2 158157376 158157376 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:158157376C>T ENST00000259056.4 + 7 2789 c.2304C>T c.(2302-2304)atC>atT p.I768I GALNT5_ENST00000463418.1_3'UTR NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 768 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 ACCACCTCATCGACCAAGGGC 0.517000 6 51 0 0 1 0 0 CCDC30 728621 broad.mit.edu 37 1 43021879 43021879 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:43021879G>A ENST00000428554.2 + 12 1621 c.478G>A c.(478-480)Gag>Aag p.E160K CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.E160K|CCDC30_ENST00000340612.4_Missense_Mutation_p.E160K Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 160 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 GTCAGTAAAGGAGGGCAGTTT 0.393000 8 52 0 0 1 0 0 ZNF239 8187 broad.mit.edu 37 10 44052324 44052324 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:44052324G>A ENST00000306006.6 - 2 1856 c.1204C>T c.(1204-1206)Ccc>Tcc p.P402S ZNF239_ENST00000535642.1_Missense_Mutation_p.P402S|ZNF239_ENST00000374446.2_Missense_Mutation_p.P402S|ZNF239_ENST00000426961.1_Missense_Mutation_p.P402S NM_005674.2 NP_005665.2 Q16600 ZN239_HUMAN zinc finger protein 239 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 CAGTGATAGGGCTTCTCTCCA 0.517000 23 56 0 0 1 0 0 ZNF585B 92285 broad.mit.edu 37 19 37680975 37680975 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:37680975G>A ENST00000532828.2 - 3 401 c.150C>T c.(148-150)aaC>aaT p.N50N ZNF585B_ENST00000586320.1_Silent_p.N35N|ZNF585B_ENST00000531805.1_5'UTR|ZNF585B_ENST00000527838.1_Silent_p.N50N|CTC-454I21.3_ENST00000585860.2_Silent_p.N50N NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 50 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCCGGTACAGGTTTCTCTGAG 0.517000 22 71 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40980841 40980841 + Missense_Mutation SNP T T A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:40980841T>A ENST00000373198.3 - 10 1880 c.1645A>T c.(1645-1647)Acc>Tcc p.T549S PTPRT_ENST00000373187.1_Missense_Mutation_p.T549S|PTPRT_ENST00000373201.1_Missense_Mutation_p.T549S|PTPRT_ENST00000373190.1_Missense_Mutation_p.T549S|PTPRT_ENST00000373193.3_Missense_Mutation_p.T549S|PTPRT_ENST00000373184.1_Missense_Mutation_p.T549S|PTPRT_ENST00000356100.2_Missense_Mutation_p.T549S NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 549 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGGTGGTGGGTTTCATTCCGG 0.572000 31 70 0 0 1 0 0 ITGB3 3690 broad.mit.edu 37 17 45367134 45367134 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:45367134C>T ENST00000559488.1 + 7 1043 c.1027C>T c.(1027-1029)Ctc>Ttc p.L343F ITGB3_ENST00000435993.2_Missense_Mutation_p.L296F|ITGB3_ENST00000560629.1_Missense_Mutation_p.S331F|ITGB3_ENST00000571680.1_Missense_Mutation_p.L343F NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 343 VWFA. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding p.L343I(1) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) TGTAGTCAATCTCTATCAGGT 0.488000 22 63 0 0 1 0 0 GLT1D1 144423 broad.mit.edu 37 12 129373189 129373189 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:129373189C>T ENST00000442111.2 + 3 311 c.223C>T c.(223-225)Cga>Tga p.R75* GLT1D1_ENST00000281703.6_Nonsense_Mutation_p.R75*|GLT1D1_ENST00000537468.1_Nonsense_Mutation_p.R64*|GLT1D1_ENST00000542193.1_5'UTR Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 75 biosynthetic process extracellular region transferase activity, transferring glycosyl groups p.R75*(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) TGCAGGCCACCGAATCCCTTT 0.458000 4 30 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196799380 196799380 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:196799380C>T ENST00000312428.6 - 21 3506 c.3406G>A c.(3406-3408)Gcc>Acc p.A1136T NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1136 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TGACCTCTGGCTTTGGCTGTT 0.383000 45 124 0 0 1 0 0 ADARB2 105 broad.mit.edu 37 10 1262911 1262911 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:1262911G>A ENST00000381312.1 - 7 1987 c.1662C>T c.(1660-1662)tcC>tcT p.S554S ADARB2_ENST00000469464.1_5'UTR NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 554 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) TGTCCGTGCAGGACATGGTGA 0.682000 6 18 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55541830 55541830 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:55541830G>A ENST00000220676.1 + 4 5536 c.5388G>A c.(5386-5388)acG>acA p.T1796T NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1796 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.T1796T(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CAGGCCCAACGATGGATGAAC 0.448000 21 36 0 0 1 0 0 HAO1 54363 broad.mit.edu 37 20 7875857 7875857 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:7875857C>T ENST00000378789.3 - 5 787 c.736G>A c.(736-738)Gag>Aag p.E246K NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 246 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TTAACAGCCTCCCTGGCATCA 0.502000 39 82 0 0 1 0 0 ZNF157 7712 broad.mit.edu 37 X 47269705 47269705 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:47269705G>A ENST00000377073.3 + 2 189 c.103G>A c.(103-105)Gat>Aat p.D35N NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 35 KRAB. negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 TGTGGCTGTGGATTTCACCCG 0.498000 31 54 0 0 1 0 0 ZNF648 127665 broad.mit.edu 37 1 182026400 182026400 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:182026400G>A ENST00000339948.3 - 2 953 c.746C>T c.(745-747)cCc>cTc p.P249L NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 GCACCTGTAGGGACGCGCCTC 0.736000 7 10 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166245514 166245514 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:166245514C>T ENST00000375437.2 + 27 5488 c.5198C>T c.(5197-5199)cCt>cTt p.P1733L SCN2A_ENST00000283256.6_Missense_Mutation_p.P1733L|SCN2A_ENST00000357398.3_Missense_Mutation_p.P1733L|SCN2A_ENST00000375427.2_Missense_Mutation_p.P1733L NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1733 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GACTGTGACCCTGACAAAGAT 0.453000 75 241 0 0 1 0 0 PLSCR4 57088 broad.mit.edu 37 3 145914535 145914535 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:145914535C>T ENST00000354952.2 - 7 910 c.670G>A c.(670-672)Gaa>Aaa p.E224K PLSCR4_ENST00000446574.2_Missense_Mutation_p.E224K|PLSCR4_ENST00000383083.2_Missense_Mutation_p.E134K|PLSCR4_ENST00000433593.2_Missense_Mutation_p.E119K|PLSCR4_ENST00000493382.1_Missense_Mutation_p.E224K NM_020353.2 NP_065086.2 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 224 blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1) 17 TTCCAATGTTCCGCAACAAAG 0.478000 25 43 0 0 1 0 0 LRIT3 345193 broad.mit.edu 37 4 110790861 110790861 + Missense_Mutation SNP C C A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:110790861C>A ENST00000327908.3 + 4 1171 c.407C>A c.(406-408)tCt>tAt p.S136Y LRIT3_ENST00000594814.1_Missense_Mutation_p.S319Y|LRIT3_ENST00000409621.2_Missense_Mutation_p.S136Y|LRIT3_ENST00000379920.3_Missense_Mutation_p.S274Y Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 274 integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) ACAGGCATTTCTTCCAAAGAC 0.433000 46 108 5.34276e-22 5.46676e-22 1 1 0 TFF1 7031 broad.mit.edu 37 21 43783428 43783428 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr21:43783428G>A ENST00000291527.2 - 2 272 c.174C>T c.(172-174)ttC>ttT p.F58F NM_003225.2 NP_003216.1 P04155 TFF1_HUMAN trefoil factor 1 58 P-type. carbohydrate metabolic process|response to estradiol stimulus growth factor activity cervix(1)|lung(1) 2 CGGTGTCGTCGAAACAGCAGC 0.517000 20 54 0 0 1 0 0 IFT57 55081 broad.mit.edu 37 3 107885815 107885815 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:107885815G>A ENST00000264538.3 - 8 1114 c.867C>T c.(865-867)ctC>ctT p.L289L IFT57_ENST00000468021.1_5'UTR NM_018010.3 NP_060480.1 Q9NWB7 IFT57_HUMAN intraflagellar transport 57 homolog (Chlamydomonas) 289 activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 14 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) TTTCATTATGGAGTTTGTCCA 0.338000 8 41 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18321953 18321953 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:18321953G>A ENST00000355502.3 - 19 2796 c.1925C>T c.(1924-1926)cCc>cTc p.P642L PDE4C_ENST00000594617.2_Missense_Mutation_p.P642L|PDE4C_ENST00000447275.2_Missense_Mutation_p.P536L|PDE4C_ENST00000594465.2_Missense_Mutation_p.P642L|PDE4C_ENST00000539010.1_Missense_Mutation_p.P411L|PDE4C_ENST00000262805.11_Missense_Mutation_p.P610L|AC068499.10_ENST00000594805.2_RNA Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 642 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) GAGGTCTGAGGGACTTCGGGG 0.592000 23 88 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36698091 36698091 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:36698091C>T ENST00000399881.3 + 15 1666 c.1629C>T c.(1627-1629)gcC>gcT p.A543A NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 543 Segment S8. voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CTGAAGTTGCCCGGTAAGTGA 0.428000 7 27 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79852917 79852917 + Splice_Site SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr9:79852917G>A ENST00000360280.3 + 18 1855 c.e18-1 VPS13A_ENST00000376636.3_Splice_Site|VPS13A_ENST00000376634.4_Splice_Site|VPS13A_ENST00000357409.5_Splice_Site NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TTTTAATGCAGATTTGAAACT 0.289000 19 20 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1013972 1013972 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:1013972C>T ENST00000421673.2 - 32 7119 c.7069G>A c.(7069-7071)Gag>Aag p.E2357K NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 2357 CTCK. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AACGTGATCTCCTCCTGCTGC 0.662000 4 5 0 0 1 0 0 TLR10 81793 broad.mit.edu 37 4 38774977 38774977 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:38774977C>T ENST00000308973.4 - 4 2840 c.2235G>A c.(2233-2235)ctG>ctA p.L745L TLR10_ENST00000508334.1_Silent_p.L745L|TLR10_ENST00000361424.2_Silent_p.L745L|TLR10_ENST00000506111.1_Silent_p.L745L NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 745 TIR. inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 GGAGAGCTTTCAGTTTATGAT 0.403000 36 83 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44579069 44579069 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:44579069G>A ENST00000289547.4 - 2 982 c.927C>T c.(925-927)ccC>ccT p.P309P NPC1L1_ENST00000546276.1_Silent_p.P309P|NPC1L1_ENST00000423141.1_Silent_p.P309P|NPC1L1_ENST00000381160.3_Silent_p.P309P NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 309 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) TGTCCCTGGCGGGGGCCACAC 0.597000 37 92 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65346915 65346915 + Missense_Mutation SNP C C G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:65346915C>G ENST00000330909.8 - 23 3676 c.3677G>C c.(3676-3678)cGt>cCt p.R1226P MAGI1_ENST00000402939.2_Missense_Mutation_p.R1198P|MAGI1_ENST00000497477.2_Missense_Mutation_p.R1131P|MAGI1_ENST00000483466.1_Missense_Mutation_p.R1227P NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1227 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CAGAAACAGACGAACTCTGCG 0.443000 22 73 0 0 1 0 0 DCAF4L1 285429 broad.mit.edu 37 4 41984870 41984870 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:41984870C>T ENST00000333141.5 + 1 1158 c.1061C>T c.(1060-1062)tCc>tTc p.S354F NM_001029955.3 NP_001025126.2 Q3SXM0 DC4L1_HUMAN DDB1 and CUL4 associated factor 4-like 1 354 breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1) 37 ACCATCCCTTCCCCGTACTCT 0.637000 19 62 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64949039 64949039 + Missense_Mutation SNP T T G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:64949039T>G ENST00000399262.2 - 18 6677 c.6459A>C c.(6457-6459)ttA>ttC p.L2153F JMJD1C_ENST00000542921.1_Missense_Mutation_p.L1971F|JMJD1C_ENST00000402544.1_Missense_Mutation_p.L1916F|JMJD1C_ENST00000399251.1_3'UTR NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2153 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) TATCACTGTATAATTTATTAT 0.323000 41 65 0 0 1 0 0 C7orf55-LUC7L2 100996928 broad.mit.edu 37 7 139086975 139086975 + Missense_Mutation SNP T T A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:139086975T>A ENST00000354926.4 + 4 702 c.348T>A c.(346-348)agT>agA p.S116R LUC7L2_ENST00000541515.3_Missense_Mutation_p.S182R|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.S115R|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.S113R NM_016019.3 NP_057103.2 AAGAGATTAGTGCTGAAGTAG 0.328000 8 27 0 0 1 0 0 OR1F1 4992 broad.mit.edu 37 16 3255043 3255043 + Missense_Mutation SNP A A C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:3255043A>C ENST00000304646.2 + 1 797 c.797A>C c.(796-798)cAc>cCc p.H266P AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 CTGTCCTCCCACTCAGCTGAG 0.488000 56 123 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41330674 41330674 + Missense_Mutation SNP C C G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:41330674C>G ENST00000551295.2 + 10 1194 c.1077C>G c.(1075-1077)atC>atG p.I359M CNTN1_ENST00000547702.1_Missense_Mutation_p.I359M|CNTN1_ENST00000360099.3_Missense_Mutation_p.I359M|CNTN1_ENST00000348761.2_Missense_Mutation_p.I348M|CNTN1_ENST00000547849.1_Missense_Mutation_p.I359M|CNTN1_ENST00000347616.1_Missense_Mutation_p.I359M NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 359 Ig-like C2-type 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GAAAGCCCATCCCTACAATCC 0.478000 43 117 0 0 1 0 0 ATG9B 285973 broad.mit.edu 37 7 150713833 150713833 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:150713833G>A ENST00000377974.2 - 11 2438 c.2363C>T c.(2362-2364)cCa>cTa p.P788L ATG9B_ENST00000444312.1_Missense_Mutation_p.P274L|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_3'UTR Q674R7 ATG9B_HUMAN autophagy related 9B 789 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGCCGCAGCTGGACAGGGGGC 0.647000 7 24 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 617491 617491 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:617491C>T ENST00000358353.3 - 16 2720 c.2398G>A c.(2398-2400)Gag>Aag p.E800K CDHR5_ENST00000397542.2_Missense_Mutation_p.E800K|CDHR5_ENST00000349570.7_Missense_Mutation_p.E606K Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 800 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 ACGTCTGCCTCCGTCCCGATG 0.711000 15 41 0 0 1 0 0 DES 1674 broad.mit.edu 37 2 220284878 220284878 + Splice_Site SNP G G A rs59188358 TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:220284878G>A ENST00000373960.3 + 2 725 c.e2+1 NM_001927.3 NP_001918.3 P17661 DESM_HUMAN desmin cytoskeleton organization|muscle filament sliding|regulation of heart contraction cytosol|Z disc protein binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1) 18 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) CTTCCGAGCGGTGAGTGCCCT 0.587000 21 59 0 0 1 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42279460 42279460 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:42279460G>A ENST00000399518.3 - 17 2431 c.1945C>T c.(1945-1947)Cgg>Tgg p.R649W CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.R620W NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 637 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) ACGAAGGACCGATGGGTAAGG 0.517000 20 42 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162508677 162508677 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:162508677G>A ENST00000306100.5 - 8 1381 c.945C>T c.(943-945)caC>caT p.H315H FSTL5_ENST00000536695.1_Silent_p.H314H|FSTL5_ENST00000379164.4_Silent_p.H314H|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000427802.2_Silent_p.H314H NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 315 Ig-like 1. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AATTGCCAACGTGAGTTGTGG 0.343000 25 74 0 0 1 0 0 RNF43 54894 broad.mit.edu 37 17 56435408 56435408 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:56435408G>A ENST00000584437.1 - 8 3684 c.1729C>T c.(1729-1731)Cag>Tag p.Q577* RNF43_ENST00000407977.2_Nonsense_Mutation_p.Q577*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.Q536*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Nonsense_Mutation_p.Q450*|RNF43_ENST00000581868.1_Nonsense_Mutation_p.Q450*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.Q577*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.Q536* Q68DV7 RNF43_HUMAN ring finger protein 43 577 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGCCTGGACTGGGGGACTCCG 0.622000 31 105 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11666900 11666900 + Missense_Mutation SNP G G T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:11666900G>T ENST00000262442.3 + 36 7207 c.7139G>T c.(7138-7140)tGg>tTg p.W2380L DNAH9_ENST00000454412.2_Missense_Mutation_p.W2380L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2380 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCTGCCATCTGGGCTTTCGGC 0.468000 21 41 1.96292e-10 1.98544e-10 1 1 0 PROM2 150696 broad.mit.edu 37 2 95944469 95944469 + Splice_Site SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:95944469G>A ENST00000317620.9 + 9 1184 c.1050_splice c.e9-1 p.E351_splice PROM2_ENST00000317668.4_Splice_Site_p.E351_splice|PROM2_ENST00000542147.1_Splice_Site_p.E351_splice|PROM2_ENST00000403131.2_Splice_Site_p.E351_splice NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 351 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 GTTCCTGCAGGAGAACAGCAC 0.632000 18 68 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7494450 7494450 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:7494450G>A ENST00000486284.1 + 6 1605 c.1331G>A c.(1330-1332)gGa>gAa p.G444E GRM7_ENST00000403881.1_Missense_Mutation_p.G444E|GRM7_ENST00000389336.4_Missense_Mutation_p.G444E|GRM7_ENST00000357716.4_Missense_Mutation_p.G444E|GRM7_ENST00000402647.2_Missense_Mutation_p.G444E|GRM7_ENST00000458641.2_3'UTR NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 444 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GAGCAAGCTGGAGGCAAGAAG 0.463000 6 33 0 0 1 0 0 ZNF644 84146 broad.mit.edu 37 1 91405830 91405830 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:91405830G>A ENST00000370440.1 - 3 1298 c.1081C>T c.(1081-1083)Caa>Taa p.Q361* ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.Q361*|ZNF644_ENST00000467231.1_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) ATTAGATGTTGGAAGGCATCC 0.358000 52 147 0 0 1 0 0 OR5K1 26339 broad.mit.edu 37 3 98188783 98188783 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:98188783C>T ENST00000332650.5 + 1 460 c.363C>T c.(361-363)gaC>gaT p.D121D NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TGGCCTATGACCGCTATGTGG 0.463000 68 173 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46245442 46245442 + Missense_Mutation SNP A A T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:46245442A>T ENST00000334344.6 + 15 3708 c.3536A>T c.(3535-3537)aAt>aTt p.N1179I ARID2_ENST00000422737.1_Missense_Mutation_p.N1030I|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.N789I NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1179 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GTTGTGCCAAATACGAGTTTT 0.473000 """N, S, F""" hepatocellular carcinoma 32 90 0 0 1 0 0 SLC38A11 151258 broad.mit.edu 37 2 165802230 165802230 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:165802230G>A ENST00000303735.4 - 3 399 c.69C>T c.(67-69)tcC>tcT p.S23S SLC38A11_ENST00000409662.1_Silent_p.S23S|SLC38A11_ENST00000409149.3_Silent_p.S23S|SLC38A11_ENST00000409058.1_Silent_p.S54S NM_173512.2 NP_775783.1 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 23 amino acid transport|sodium ion transport integral to membrane endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 ATAAAACAAGGGAAAAGTCTG 0.368000 17 81 0 0 1 0 0 ETV3L 440695 broad.mit.edu 37 1 157067777 157067777 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:157067777G>A ENST00000454449.2 - 4 774 c.490C>T c.(490-492)Ctg>Ttg p.L164L NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 164 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) ATGCTGTGCAGGAGCTGAGGG 0.557000 19 55 0 0 1 0 0 RSPRY1 89970 broad.mit.edu 37 16 57238576 57238576 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:57238576C>T ENST00000537866.1 + 2 879 c.6C>T c.(4-6)atC>atT p.I2I RSPRY1_ENST00000394420.4_Silent_p.I2I Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 2 extracellular region zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 CCTAAATGATCGTCTTTGGTT 0.448000 86 198 0 0 1 0 0 FAM19A4 151647 broad.mit.edu 37 3 68788312 68788312 + Missense_Mutation SNP G G A rs138970524 TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:68788312G>A ENST00000295569.7 - 5 817 c.325C>T c.(325-327)Ccg>Tcg p.P109S NM_001005527.2|NM_182522.4 NP_001005527.1|NP_872328.1 Q96LR4 F19A4_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 109 extracellular region p.P109S(1) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2) 10 Lung NSC(201;0.0198) BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904) TCCAAACACGGATTCATGTGA 0.408000 37 106 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155823531 155823531 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:155823531G>A ENST00000437809.1 - 2 163 c.41C>T c.(40-42)tCc>tTc p.S14F GON4L_ENST00000368331.1_Missense_Mutation_p.S14F|GON4L_ENST00000361040.5_Missense_Mutation_p.S14F|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.S14F Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 14 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) ATGCTGTAGGGACTCTGTCAC 0.398000 16 67 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54754805 54754805 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:54754805G>A ENST00000450632.1 - 13 1907 c.1830C>T c.(1828-1830)ccC>ccT p.P610P LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 0 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCCTGCAGCGGGGGAGAGTGA 0.622000 16 48 0 0 1 0 0 DNM1P46 196968 broad.mit.edu 37 15 100332276 100332276 + RNA SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:100332276G>A ENST00000341853.1 - 0 1915 NR_003260.1 GTCTGTGAGTGGGGAGACCCA 0.662000 19 71 0 0 1 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140866808 140866808 + Missense_Mutation SNP A A G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:140866808A>G ENST00000306593.1 + 1 2068 c.2068A>G c.(2068-2070)Acc>Gcc p.T690A PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCTCGTCTAACCCTCTACTT 0.493000 38 95 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203743 140203743 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:140203743C>T ENST00000378126.3 + 1 2383 c.2383C>T c.(2383-2385)Ccc>Tcc p.P795S PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron NM_031501.1 NP_113689.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCCATCTTTCCCTCCCAATT 0.378000 11 33 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881535 228881535 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:228881535C>T ENST00000392056.3 - 7 4081 c.4035G>A c.(4033-4035)gaG>gaA p.E1345E SPHKAP_ENST00000344657.5_Silent_p.E1345E NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1345 cytoplasm protein binding p.E1345D(2) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTGCACACTTCTCTGCTTGCG 0.512000 22 82 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21501012 21501012 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr18:21501012C>T ENST00000313654.9 + 61 8278 c.8037C>T c.(8035-8037)gaC>gaT p.D2679D LAMA3_ENST00000399516.3_Silent_p.D2623D|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.D1014D|LAMA3_ENST00000269217.6_Silent_p.D1070D NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2679 Laminin G-like 2. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACGGCAGAGACCATTCGGTAC 0.383000 14 46 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31552616 31552616 + Silent SNP T T G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:31552616T>G ENST00000389082.5 - 16 3304 c.3040A>C c.(3040-3042)Aga>Cga p.R1014R DENND5B_ENST00000306833.6_Silent_p.R1049R|DENND5B_ENST00000536562.1_Silent_p.R1049R NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1014 PLAT. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 ATTTCATTTCTGACCATGACA 0.418000 7 31 0 0 1 0 0 SKIV2L 6499 broad.mit.edu 37 6 31935611 31935611 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:31935611C>T ENST00000375394.2 + 22 2816 c.2703C>T c.(2701-2703)ctC>ctT p.L901L SKIV2L_ENST00000544581.1_Silent_p.L708L NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 901 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 CAGATGACCTCGTGGGATTCA 0.557000 40 81 0 0 1 0 0 PTPN11 5781 broad.mit.edu 37 12 112926922 112926922 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:112926922C>T ENST00000351677.2 + 13 1740 c.1542C>T c.(1540-1542)atC>atT p.I514I NM_002834.3 NP_002825.3 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 11 518 Tyrosine-protein phosphatase. Q -> P (in LEOPARD1). axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 ACCGATTTATCTATATGGCGG 0.498000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 68 170 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033958 52033958 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:52033958C>T ENST00000346477.3 - 3 751 c.683G>A c.(682-684)aGa>aAa p.R228K SIGLEC6_ENST00000391797.3_Missense_Mutation_p.R217K|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.R228K|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.R228K|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.R192K|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.R228K NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 228 Ig-like C2-type 1. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CTGGATGGTTCTCTCCATGGT 0.632000 38 84 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66932940 66932940 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:66932940G>A ENST00000359742.4 - 4 576 c.336C>T c.(334-336)ttC>ttT p.F112F GRIP1_ENST00000398016.3_Silent_p.F112F|GRIP1_ENST00000286445.7_Silent_p.F112F Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 112 PDZ 1. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CGTCATGGCGGAATTTGGCCA 0.483000 41 111 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34543105 34543105 + Missense_Mutation SNP A A C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:34543105A>C ENST00000354181.3 - 11 1979 c.1487T>G c.(1486-1488)gTt>gGt p.V496G SLC12A6_ENST00000560611.1_Missense_Mutation_p.V496G|SLC12A6_ENST00000451844.2_Missense_Mutation_p.V308G|SLC12A6_ENST00000558589.1_Missense_Mutation_p.V487G|SLC12A6_ENST00000458406.2_Missense_Mutation_p.V437G|SLC12A6_ENST00000397702.2_Missense_Mutation_p.V437G|SLC12A6_ENST00000397707.2_Missense_Mutation_p.V481G|SLC12A6_ENST00000290209.5_Missense_Mutation_p.V445G|SLC12A6_ENST00000560164.1_Missense_Mutation_p.V308G|SLC12A6_ENST00000558667.1_Missense_Mutation_p.V496G Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 496 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) TTTACCTGTAACAGAGGGAAA 0.433000 18 58 0 0 1 0 0 SLC15A3 51296 broad.mit.edu 37 11 60704807 60704807 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:60704807G>A ENST00000227880.3 - 8 1863 c.1630C>T c.(1630-1632)Ctg>Ttg p.L544L NM_016582.2 NP_057666.1 Q8IY34 S15A3_HUMAN solute carrier family 15 (oligopeptide transporter), member 3 544 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2) 17 CCAGCCAGCAGGAAGAAGTAG 0.592000 33 56 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 108011981 108011981 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:108011981G>A ENST00000280758.5 + 10 2806 c.2278G>A c.(2278-2280)Gat>Aat p.D760N BTBD11_ENST00000357167.4_Missense_Mutation_p.D297N|BTBD11_ENST00000490090.2_Missense_Mutation_p.D760N|BTBD11_ENST00000420571.2_Intron NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 760 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GGAGAAGAGTGATATCCTGTC 0.577000 15 67 0 0 1 0 0 CRISP1 167 broad.mit.edu 37 6 49825110 49825110 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:49825110C>T ENST00000335847.4 - 2 105 c.4G>A c.(4-6)Gaa>Aaa p.E2K CRISP1_ENST00000355791.2_Missense_Mutation_p.E2K|CRISP1_ENST00000505118.1_Missense_Mutation_p.E2K|CRISP1_ENST00000329411.5_Missense_Mutation_p.E2K|CRISP1_ENST00000536021.1_Missense_Mutation_p.E2K|CRISP1_ENST00000507853.1_Missense_Mutation_p.E2K NM_001131.2 NP_001122.2 P54107 CRIS1_HUMAN cysteine-rich secretory protein 1 2 fusion of sperm to egg plasma membrane extracellular space endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0358) TGTTTAATTTCCATCCCTGAA 0.323000 12 43 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764222 77764222 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:77764222C>T ENST00000521891.2 + 10 5513 c.5065C>T c.(5065-5067)Cag>Tag p.Q1689* ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Q1644*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Q1644*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Q1663* NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1644 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q1689E(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCACCCACCACAGTCACCAGC 0.418000 HNSCC(33;0.089) 30 88 0 0 1 0 0 ATAD3B 83858 broad.mit.edu 37 1 1421570 1421570 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:1421570C>T ENST00000308647.7 + 10 1160 c.1044C>T c.(1042-1044)atC>atT p.I348I NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 348 ATP binding|nucleoside-triphosphatase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ACAGGCACATCCTGCTGTATG 0.657000 32 34 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56814369 56814369 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:56814369G>A ENST00000229201.4 - 26 3363 c.3209C>T c.(3208-3210)cCc>cTc p.P1070L TIMELESS_ENST00000554616.1_Missense_Mutation_p.P568L|TIMELESS_ENST00000553532.1_Missense_Mutation_p.P1071L NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 1071 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 AGAGGCAGGGGGCCGAACCCC 0.522000 28 87 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7494457 7494457 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:7494457G>A ENST00000486284.1 + 6 1612 c.1338G>A c.(1336-1338)aaG>aaA p.K446K GRM7_ENST00000403881.1_Silent_p.K446K|GRM7_ENST00000389336.4_Silent_p.K446K|GRM7_ENST00000357716.4_Silent_p.K446K|GRM7_ENST00000402647.2_Silent_p.K446K|GRM7_ENST00000458641.2_3'UTR NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 446 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CTGGAGGCAAGAAGTTGCTGA 0.453000 13 25 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 99013438 99013438 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:99013438G>A ENST00000393504.1 + 8 2222 c.1805G>A c.(1804-1806)gGa>gAa p.G602E CNGA3_ENST00000436404.2_Missense_Mutation_p.G584E|CNGA3_ENST00000409937.1_Missense_Mutation_p.G606E|CNGA3_ENST00000272602.2_Missense_Mutation_p.G602E NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 602 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 GAGGAGAAAGGACGGCAGATC 0.602000 20 48 0 0 1 0 0 GDF11 10220 broad.mit.edu 37 12 56137491 56137491 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:56137491G>A ENST00000257868.5 + 1 428 c.391G>A c.(391-393)Gag>Aag p.E131K NM_005811.3 NP_005802.1 O95390 GDF11_HUMAN growth differentiation factor 11 131 growth|mesoderm development|skeletal system development extracellular space cytokine activity|growth factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1) 12 GGACTTCCTGGAGGAGGACGA 0.677000 12 31 0 0 1 0 0 SLC16A9 220963 broad.mit.edu 37 10 61413826 61413826 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:61413826C>T ENST00000395348.3 - 5 1594 c.958G>A c.(958-960)Ggg>Agg p.G320R SLC16A9_ENST00000395347.1_Missense_Mutation_p.G320R NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 320 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 GGTGGAAACCCTCCGATGTCA 0.353000 26 57 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47886647 47886647 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:47886647G>A ENST00000289672.2 - 32 5033 c.4983C>T c.(4981-4983)tcC>tcT p.S1661S NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1661 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CATCCAATAAGGATAAATAGC 0.393000 15 19 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15376339 15376339 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:15376339G>A ENST00000263377.2 - 5 896 c.675C>T c.(673-675)ttC>ttT p.F225F BRD4_ENST00000371835.4_Silent_p.F225F|BRD4_ENST00000360016.5_Silent_p.F225F NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 225 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) TGACGGCAGGGAAGGGGTGAG 0.657000 T C15orf55 lethal midline carcinoma of young people 57 140 0 0 1 0 0 ITGAE 3682 broad.mit.edu 37 17 3643120 3643120 + Missense_Mutation SNP T T A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:3643120T>A ENST00000263087.4 - 20 2599 c.2501A>T c.(2500-2502)cAg>cTg p.Q834L NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 834 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) GGTGGCCAACTGTAATTCTGC 0.532000 24 74 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169586312 169586312 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:169586312C>T ENST00000263686.6 - 3 472 c.435G>A c.(433-435)tgG>tgA p.W145* SELP_ENST00000367791.2_Nonsense_Mutation_p.W145*|SELP_ENST00000367786.2_Nonsense_Mutation_p.W145*|SELP_ENST00000367794.2_Nonsense_Mutation_p.W145*|SELP_ENST00000367793.2_Nonsense_Mutation_p.W145*|SELP_ENST00000458599.2_Nonsense_Mutation_p.W145*|SELP_ENST00000367792.2_Nonsense_Mutation_p.W145*|SELP_ENST00000367788.2_Nonsense_Mutation_p.W145* NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 145 C-type lectin. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GCTCATCATTCCACTTGCCAG 0.448000 53 135 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37692835 37692835 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:37692835C>T ENST00000412232.2 + 12 1765 c.1752C>T c.(1750-1752)ccC>ccT p.P584P GPR124_ENST00000315215.7_Intron NM_032777.9 NP_116166.9 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 584 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) CACCTGAGCCCGAGCCCCCAG 0.682000 15 30 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 31099465 31099465 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:31099465C>T ENST00000597505.1 - 16 2244 c.2245G>A c.(2245-2247)Gga>Aga p.G749R DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GAGTCATCTCCACTATGTCTG 0.353000 13 20 0 0 1 0 0 SUMF1 285362 broad.mit.edu 37 3 4461818 4461818 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:4461818G>A ENST00000272902.5 - 4 567 c.532C>T c.(532-534)Ccc>Tcc p.P178S SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000534863.1_Missense_Mutation_p.P178S|SUMF1_ENST00000405420.2_Missense_Mutation_p.P178S|SUMF1_ENST00000383843.5_Missense_Mutation_p.P153S NM_182760.3 NP_877437.2 Q8NBK3 SUMF1_HUMAN sulfatase modifying factor 1 178 endoplasmic reticulum lumen metal ion binding|oxidoreductase activity breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3) 13 Melanoma(143;0.068)|Colorectal(144;0.233) Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549) AACCACCAGGGAGCAGCTGCA 0.483000 12 52 0 0 1 0 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374490 95374490 + RNA SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:95374490C>T ENST00000494840.1 - 0 1371 NR_077228.1 ATCTAATTATCTAATTATCAA 0.383000 11 34 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32190365 32190365 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:32190365G>A ENST00000375023.3 - 3 512 c.374C>T c.(373-375)tCc>tTc p.S125F NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 125 EGF-like 3. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GGAACAGAAGGAGGGAGGACA 0.617000 26 82 0 0 1 0 0 MARK2 2011 broad.mit.edu 37 11 63669730 63669730 + Missense_Mutation SNP G G T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:63669730G>T ENST00000402010.2 + 12 1741 c.1162G>T c.(1162-1164)Gcc>Tcc p.A388S MARK2_ENST00000361128.5_Missense_Mutation_p.A388S|MARK2_ENST00000377809.4_Missense_Mutation_p.A388S|MARK2_ENST00000513765.2_Missense_Mutation_p.A355S|MARK2_ENST00000502399.3_Missense_Mutation_p.A388S|MARK2_ENST00000315032.8_Missense_Mutation_p.A388S|MARK2_ENST00000350490.7_Missense_Mutation_p.A388S|MARK2_ENST00000408948.3_Missense_Mutation_p.A355S|MARK2_ENST00000413835.2_Missense_Mutation_p.A388S|MARK2_ENST00000377810.3_Missense_Mutation_p.A355S|MARK2_ENST00000509502.2_Missense_Mutation_p.A355S|MARK2_ENST00000508192.1_Missense_Mutation_p.A388S|MARK2_ENST00000425897.2_Missense_Mutation_p.A355S NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 388 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 CAATAGCAGCGCCCCATCCCC 0.572000 OREG0021038 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 74 1.64293e-13 1.67137e-13 1 1 0 SPHKAP 80309 broad.mit.edu 37 2 228855733 228855733 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:228855733C>T ENST00000392056.3 - 11 4988 c.4942G>A c.(4942-4944)Gaa>Aaa p.E1648K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1619K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1648 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ATTCTGTTTTCCTGAGATTTC 0.463000 11 57 0 0 1 0 0 C10orf120 399814 broad.mit.edu 37 10 124457349 124457349 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:124457349G>A ENST00000329446.4 - 3 939 c.908C>T c.(907-909)tCa>tTa p.S303L NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 303 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) GTCTCTCCGTGATATAAAATC 0.428000 33 98 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 4 72 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148865249 148865249 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:148865249C>T ENST00000367467.3 + 18 3118 c.2643C>T c.(2641-2643)ccC>ccT p.P881P NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 881 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) AGGCCCAGCCCCTGGAGCAAG 0.532000 42 202 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2894668 2894668 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:2894668G>A ENST00000254695.8 + 12 981 c.891G>A c.(889-891)acG>acA p.T297T RAP1GAP2_ENST00000366401.4_Silent_p.T282T|RAP1GAP2_ENST00000542807.1_Silent_p.T297T|RAP1GAP2_ENST00000540393.2_Silent_p.T278T NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 297 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 TGGGGGACACGATCACACTGC 0.522000 6 8 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247751766 247751766 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:247751766G>A ENST00000320065.1 + 1 105 c.105G>A c.(103-105)ttG>ttA p.L35L RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 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;0.017) TGCTCATATTGATTCTGTATT 0.398000 79 145 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9062392 9062392 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:9062392C>T ENST00000397910.4 - 3 25257 c.25054G>A c.(25054-25056)Gca>Aca p.A8352T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8354 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 TTGGTCACTGCTGTGTGTGTG 0.483000 32 122 0 0 1 0 0 OCRL 4952 broad.mit.edu 37 X 128696421 128696421 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:128696421C>T ENST00000371113.4 + 11 1165 c.1000C>T c.(1000-1002)Cga>Tga p.R334* OCRL_ENST00000357121.5_Nonsense_Mutation_p.R334* NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 334 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding p.R334*(1) breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 GGATCAGTGTCGATACATTCG 0.393000 51 79 0 0 1 0 0 GABRG3 2567 broad.mit.edu 37 15 27778021 27778021 + Nonsense_Mutation SNP T T A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:27778021T>A ENST00000333743.6 + 10 1652 c.1398T>A c.(1396-1398)taT>taA p.Y466* RP11-100M12.3_ENST00000556642.1_RNA NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 466 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) GATACCTGTATCTCTAAGTGT 0.493000 14 29 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65908912 65908912 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:65908912C>T ENST00000321892.4 + 13 5351 c.5290C>T c.(5290-5292)Ccc>Tcc p.P1764S BPTF_ENST00000424123.3_Missense_Mutation_p.P1625S|BPTF_ENST00000335221.5_Missense_Mutation_p.P1764S|BPTF_ENST00000306378.6_Missense_Mutation_p.P1638S Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1764 Thr-rich. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GCTTTCCACACCCTCCACAGG 0.512000 22 56 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92174530 92174530 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:92174530G>A ENST00000256343.3 - 6 577 c.421C>T c.(421-423)Cta>Tta p.L141L NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 141 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TAAATATTTAGTCCATGATGT 0.303000 20 46 0 0 1 0 0 ZDHHC1 29800 broad.mit.edu 37 16 67432757 67432757 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:67432757G>A ENST00000348579.2 - 6 962 c.621C>T c.(619-621)aaC>aaT p.N207N NM_013304.2 NP_037436.1 Q8WTX9 ZDHC1_HUMAN zinc finger, DHHC-type containing 1 207 integral to membrane DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1) 10 Ovarian(137;0.223) UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022) GACGCATGGGGTTGACAAAGA 0.592000 3 24 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56085954 56085954 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:56085954C>T ENST00000312711.1 + 1 172 c.172C>T c.(172-174)Cct>Tct p.P58S NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) GTTGCAAACCCCTATGTACTT 0.403000 39 143 0 0 1 0 0 AQP10 89872 broad.mit.edu 37 1 154296092 154296092 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:154296092G>A ENST00000484864.1 + 5 553 c.517G>A c.(517-519)Ggg>Agg p.G173R AQP10_ENST00000324978.3_Missense_Mutation_p.G173R|AQP10_ENST00000355197.4_3'UTR Q96PS8 AQP10_HUMAN aquaporin 10 173 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GCTGATTGTGGGGCTCTTGGC 0.597000 46 134 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10085076 10085076 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:10085076G>A ENST00000264828.3 - 46 3436 c.3351C>T c.(3349-3351)gaC>gaT p.D1117D NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1117 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CCTGAGCCCCGTCTGCTCCCT 0.597000 12 32 0 0 1 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68930587 68930587 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:68930587C>T ENST00000356291.2 - 8 890 c.831G>A c.(829-831)agG>agA p.R277R RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 277 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 GAATAATTTTCCTCACATTTC 0.343000 11 26 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179460800 179460800 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:179460800G>A ENST00000367618.3 + 19 2606 c.2219G>A c.(2218-2220)gGa>gAa p.G740E NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 740 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 CATGATATAGGAGTTGCGCGA 0.423000 37 115 0 0 1 0 0 RNF34 80196 broad.mit.edu 37 12 121858580 121858580 + Splice_Site SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:121858580C>T ENST00000361234.5 + 5 1099 c.928_splice c.e5+1 p.S309_splice RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392464.2_Splice_Site_p.S309_splice|RNF34_ENST00000392465.3_Splice_Site_p.S310_splice NM_025126.3 NP_079402.2 Q969K3 RNF34_HUMAN ring finger protein 34, E3 ubiquitin protein ligase 309 apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding breast(1)|large_intestine(1) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) ACCAAAAGTCCTGTAGGTTTA 0.328000 25 76 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28843876 28843876 + Missense_Mutation SNP A A C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:28843876A>C ENST00000336783.4 + 12 1743 c.1576A>C c.(1576-1578)Ata>Cta p.I526L ATXN2L_ENST00000325215.6_Missense_Mutation_p.I526L|ATXN2L_ENST00000340394.8_Missense_Mutation_p.I526L|ATXN2L_ENST00000564304.1_Missense_Mutation_p.I532L|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.I526L|ATXN2L_ENST00000570200.1_Missense_Mutation_p.I526L|ATXN2L_ENST00000382686.4_Missense_Mutation_p.I526L NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 526 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 GCTGGCTCGGATAGCTGGGAA 0.468000 45 103 0 0 1 0 0 BUD13 84811 broad.mit.edu 37 11 116633707 116633707 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:116633707G>A ENST00000260210.4 - 4 621 c.598C>T c.(598-600)Cct>Tct p.P200S BUD13_ENST00000375445.3_Missense_Mutation_p.P200S NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 200 Arg-rich. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) GGGGGAGAAGGATCTGGAGAA 0.567000 67 154 0 0 1 0 0 KIAA1804 84451 broad.mit.edu 37 1 233482258 233482258 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:233482258G>A ENST00000366624.3 + 2 1137 c.876G>A c.(874-876)ttG>ttA p.L292L MLK4_ENST00000366623.3_Silent_p.L292L NM_032435.2 NP_115811.2 ATTTTGGGTTGGCGAGGGAAT 0.433000 17 40 0 0 1 0 0 OR4C46 119749 broad.mit.edu 37 11 51516200 51516200 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:51516200G>A ENST00000328188.1 + 1 919 c.919G>A c.(919-921)Ggt>Agt p.G307S NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 GGACATTTCAGGTGACAAATA 0.358000 18 46 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10426925 10426925 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:10426925C>T ENST00000245503.5 - 37 5744 c.5360G>A c.(5359-5361)cGg>cAg p.R1787Q CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1787Q NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1787 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTTCTTCATCCGCTCCAGGTG 0.517000 48 141 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115524038 115524038 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:115524038C>T ENST00000369522.3 + 29 2704 c.2464C>T c.(2464-2466)Cga>Tga p.R822* SYCP1_ENST00000369518.1_Nonsense_Mutation_p.R822*|SYCP1_ENST00000477590.1_3'UTR NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 822 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AACTGTATCTCGAAATTTCAC 0.338000 25 88 0 0 1 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46057497 46057497 + Missense_Mutation SNP A A G rs377408 TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr21:46057497A>G ENST00000380095.1 + 1 225 c.163A>G c.(163-165)Acg>Gcg p.T55A TSPEAR_ENST00000323084.4_Intron NM_181688.1 NP_859016.1 P60014 KR10A_HUMAN keratin associated protein 10-10 55 15 X 5 AA repeats of C-C-X(3). keratin filament p.T55A(1) NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 CTGCTGCCAGACGGCCTGTGA 0.662000 7 138 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3215171 3215171 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr18:3215171G>A ENST00000356443.4 - 2 384 c.51C>T c.(49-51)taC>taT p.Y17Y RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Silent_p.Y17Y|MYOM1_ENST00000400569.3_Silent_p.Y17Y NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 17 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CCTTGTTGCGGTAGCTGAGAT 0.567000 5 16 0 0 1 0 0 RCSD1 92241 broad.mit.edu 37 1 167659311 167659311 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:167659311C>T ENST00000367854.3 + 4 555 c.224C>T c.(223-225)cCt>cTt p.P75L RCSD1_ENST00000537350.1_Missense_Mutation_p.P45L NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 75 NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) GCGAGCCACCCTCCTAAATTC 0.438000 24 87 0 0 1 0 0 TMEM63A 9725 broad.mit.edu 37 1 226050212 226050212 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:226050212G>A ENST00000366835.3 - 12 1164 c.894C>T c.(892-894)ctC>ctT p.L298L TMEM63A_ENST00000537914.1_5'UTR|TMEM63A_ENST00000474478.1_5'UTR NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 298 integral to membrane|lysosomal membrane nucleotide binding breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) TGGGGTTGATGAGGGTCCGCT 0.592000 30 88 0 0 1 0 0 ZNF627 199692 broad.mit.edu 37 19 11725466 11725466 + Missense_Mutation SNP T T C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:11725466T>C ENST00000361113.5 + 2 336 c.128T>C c.(127-129)gTa>gCa p.V43A ZNF627_ENST00000588174.1_Missense_Mutation_p.V43A NM_145295.3 NP_660338.1 Q7L945 ZN627_HUMAN zinc finger protein 627 43 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 CTGGCTTCTGTAGGTAAGGGT 0.478000 38 107 0 0 1 0 0 IGLV1-36 28826 broad.mit.edu 37 22 22786692 22786692 + RNA SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr22:22786692G>A ENST00000390301.2 + 0 282 GTCTCTGACCGATTCTCTGGC 0.532000 49 127 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53071651 53071651 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:53071651G>A ENST00000276480.7 - 15 2296 c.1613C>T c.(1612-1614)cCa>cTa p.P538L NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 538 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AAATTTCACTGGATTTGGAAA 0.418000 16 73 0 0 1 0 0 NRP2 8828 broad.mit.edu 37 2 206641084 206641084 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:206641084C>T ENST00000357118.4 + 16 2571 c.2540C>T c.(2539-2541)tCc>tTc p.S847F NRP2_ENST00000540178.1_Intron|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000272849.3_Missense_Mutation_p.S852F|NRP2_ENST00000357785.5_Intron NM_201267.1 NP_957719.1 O60462 NRP2_HUMAN neuropilin 2 0 angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 GTGCTGGTCTCCGTCGCGCTG 0.642000 OREG0015157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 96 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770514 31770514 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:31770514G>A ENST00000240587.4 - 2 512 c.185C>T c.(184-186)tCc>tTc p.S62F NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 62 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GGCGGCCGGGGAGTTCTGGTA 0.587000 15 37 0 0 1 0 0 GATA2 2624 broad.mit.edu 37 3 128204728 128204728 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:128204728G>A ENST00000341105.2 - 3 1044 c.713C>T c.(712-714)aCc>aTc p.T238I GATA2_ENST00000487848.1_Missense_Mutation_p.T238I|GATA2_ENST00000430265.2_Missense_Mutation_p.T238I NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 238 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) AGCAGGCTGGGTGCCCATAGT 0.632000 Mis AML(CML blast transformation) 17 41 0 0 1 0 0 PTGES 9536 broad.mit.edu 37 9 132510954 132510954 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr9:132510954G>A ENST00000340607.4 - 2 223 c.189C>T c.(187-189)ccC>ccT p.P63P PTGES_ENST00000481476.1_5'UTR NM_004878.4 NP_004869.1 O14684 PTGES_HUMAN prostaglandin E synthase 63 prostaglandin biosynthetic process|signal transduction integral to membrane|membrane fraction glutathione binding|prostaglandin-E synthase activity lung(1)|skin(1) 2 Ovarian(14;0.00556) GTTCCACGTCGGGGTCGCTCC 0.602000 8 12 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606578 21606578 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:21606578G>A ENST00000392288.2 + 4 1226 c.1117G>A c.(1117-1119)Gga>Aga p.G373R CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.G245R NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 245 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 AATTCATACTGGAGAGAAACC 0.358000 20 65 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188228 140188228 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:140188228G>A ENST00000530339.1 + 1 1456 c.1456G>A c.(1456-1458)Gag>Aag p.E486K PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E486K|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.E486K NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACGCGCAGGAGAACGCGCT 0.657000 38 71 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 11 93 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38958577 38958577 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:38958577G>A ENST00000357387.3 - 24 2418 c.2388C>T c.(2386-2388)caC>caT p.H796H RICTOR_ENST00000503698.1_5'UTR|RICTOR_ENST00000296782.5_Silent_p.H796H NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 796 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) TGTCTCCAAGGTGGGATAACG 0.318000 23 54 0 0 1 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67313980 67313980 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:67313980C>T ENST00000360461.5 + 1 2568 c.33C>T c.(31-33)tcC>tcT p.S11S PLEKHG4_ENST00000379344.3_Silent_p.S11S|PLEKHG4_ENST00000427155.2_Silent_p.S11S|PLEKHG4_ENST00000450733.1_Silent_p.S11S NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 11 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) GGGATGAGTCCCCAGACTCTC 0.617000 13 36 0 0 1 0 0 BTN1A1 696 broad.mit.edu 37 6 26508829 26508829 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:26508829G>A ENST00000244513.6 + 7 1074 c.1008G>A c.(1006-1008)gaG>gaA p.E336E NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 336 B30.2/SPRY. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 AACTGCCTGAGAAAACAGAGA 0.507000 56 141 0 0 1 0 0 RFX4 5992 broad.mit.edu 37 12 107125916 107125916 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:107125916C>T ENST00000392842.1 + 14 1774 c.1360C>T c.(1360-1362)Cac>Tac p.H454Y RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000229387.5_Missense_Mutation_p.H360Y|RFX4_ENST00000357881.4_Missense_Mutation_p.H463Y|RP11-144F15.1_ENST00000551505.1_Intron NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 454 Necessary for dimerization. transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 AGGGTCTTTTCACCTAATTCA 0.468000 28 108 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262127 45262127 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:45262127G>A ENST00000303230.4 - 8 2626 c.2569C>T c.(2569-2571)Cct>Tct p.P857S NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 857 Poly-Pro. P -> L (in Ref. 2; AAC39759). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GGTGCTGGAGGGACTCCTCGG 0.597000 26 82 0 0 1 0 0 MTBP 27085 broad.mit.edu 37 8 121476001 121476001 + Splice_Site SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:121476001G>A ENST00000305949.1 + 10 1092 c.1047_splice c.e10+1 p.K349_splice NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 349 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) TGTGTAGCAAGGTATTGAGGG 0.348000 54 131 0 0 1 0 0 ERC1 23085 broad.mit.edu 37 12 1137706 1137706 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:1137706G>A ENST00000397203.2 + 2 1043 c.637G>A c.(637-639)Gaa>Aaa p.E213K ERC1_ENST00000360905.4_Missense_Mutation_p.E213K|ERC1_ENST00000355446.5_Missense_Mutation_p.E213K|ERC1_ENST00000543086.3_Missense_Mutation_p.E213K|ERC1_ENST00000546231.2_Missense_Mutation_p.E213K|ERC1_ENST00000589028.1_Missense_Mutation_p.E213K Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 213 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) CATTTGGAAGGAACAGTACAG 0.403000 14 42 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496610 20496610 + RNA SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:20496610G>A ENST00000555186.1 + 0 663 NR_038836.1 TCTACTAGTCGAAAGTGGCCT 0.438000 10 51 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7677804 7677804 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:7677804C>T ENST00000446248.2 + 13 2607 c.2506C>T c.(2506-2508)Cac>Tac p.H836Y CAMSAP3_ENST00000160298.4_Missense_Mutation_p.H809Y NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 809 Pro-rich. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 CAGCCTCCCCCACCTGCGCAA 0.721000 9 15 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882796 228882796 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:228882796C>T ENST00000392056.3 - 7 2820 c.2774G>A c.(2773-2775)tGc>tAc p.C925Y SPHKAP_ENST00000344657.5_Missense_Mutation_p.C925Y NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 925 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GTCTGTAATGCAGTAGATGTC 0.483000 50 161 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17496568 17496568 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:17496568C>T ENST00000302539.4 - 2 280 c.155G>A c.(154-156)gGa>gAa p.G52E ABCC8_ENST00000389817.3_Missense_Mutation_p.G52E NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 52 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GCTCTGACTTCCCCATCCTGC 0.582000 15 34 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10356147 10356147 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:10356147C>T ENST00000255381.2 - 25 3324 c.3214G>A c.(3214-3216)Gat>Aat p.D1072N CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1072 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTTTCTGTATCCATTGTGGAT 0.368000 49 114 0 0 1 0 0 DBT 1629 broad.mit.edu 37 1 100701062 100701062 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:100701062G>A ENST00000370132.3 - 3 194 c.181C>T c.(181-183)Cgt>Tgt p.R61C DBT_ENST00000370131.3_Missense_Mutation_p.R61C NM_001918.3 NP_001909.3 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase E2 61 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1) 19 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) ACCTGTCCACGGAGAGCTTCA 0.338000 23 41 0 0 1 0 0 WDR36 134430 broad.mit.edu 37 5 110428013 110428013 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:110428013G>A ENST00000506538.2 + 1 600 c.27G>A c.(25-27)cgG>cgA p.R9R WDR36_ENST00000513710.2_Silent_p.R9R NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 9 response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) GCAGTCTCCGGAAACGCGATT 0.592000 22 99 0 0 1 0 0 PACSIN1 29993 broad.mit.edu 37 6 34499489 34499489 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:34499489G>A ENST00000538621.1 + 9 1395 c.1150G>A c.(1150-1152)Gac>Aac p.D384N PACSIN1_ENST00000244458.2_Missense_Mutation_p.D384N|PACSIN1_ENST00000374043.2_Missense_Mutation_p.D342N NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 384 endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 CTTTGAGGACGACTCCAAGGG 0.662000 64 126 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21330956 21330956 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr18:21330956C>T ENST00000313654.9 + 5 1000 c.759C>T c.(757-759)acC>acT p.T253T LAMA3_ENST00000399516.3_Silent_p.T253T NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 253 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGAGTTTACCAAGGCAACAA 0.473000 27 75 0 0 1 0 0 PAPLN 89932 broad.mit.edu 37 14 73721590 73721590 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:73721590C>T ENST00000427855.1 + 14 1593 c.1491C>T c.(1489-1491)tcC>tcT p.S497S PAPLN_ENST00000340738.5_Silent_p.S470S|PAPLN_ENST00000555445.1_Silent_p.S497S|PAPLN_ENST00000554301.1_Silent_p.S497S|PAPLN_ENST00000381166.3_Silent_p.S497S O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 497 TSP type-1 5. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CTCAGTGCTCCAAGAGCTGCA 0.677000 12 41 0 0 1 0 0 INSC 387755 broad.mit.edu 37 11 15134028 15134028 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:15134028C>T ENST00000379554.3 + 1 59 c.13C>T c.(13-15)Cct>Tct p.P5S NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 5 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 GAGACGGCCCCCTGGCAATGG 0.622000 10 18 0 0 1 0 0 PALLD 23022 broad.mit.edu 37 4 169612443 169612443 + Splice_Site SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:169612443G>A ENST00000335742.7 + 8 1712 c.355_splice c.e8+1 p.E119_splice PALLD_ENST00000512127.1_Splice_Site_p.E119_splice|PALLD_ENST00000505667.1_Splice_Site_p.E501_splice|PALLD_ENST00000261509.6_Splice_Site_p.E501_splice|PALLD_ENST00000333488.4_Splice_Site_p.D378_splice Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 501 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) AGCTGAACCTGGTAAGAATAT 0.338000 Pancreatic Cancer, Familial Clustering of 13 30 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103124013 103124013 + Splice_Site SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:103124013G>A ENST00000375735.2 + 66 10186 c.e66-1 DYNC2H1_ENST00000398093.3_Splice_Site|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TTTTTAAATAGGACCACGTTA 0.299000 15 39 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160798482 160798482 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:160798482G>A ENST00000283243.7 - 30 4405 c.4199C>T c.(4198-4200)cCt>cTt p.P1400L PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1400 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 AACCGCAAGAGGAATGATGCT 0.408000 31 43 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9087373 9087373 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:9087373G>A ENST00000397910.4 - 1 4645 c.4442C>T c.(4441-4443)tCa>tTa p.S1481L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1481 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 ACTCATGGGTGAACTTGGACT 0.433000 60 150 0 0 1 0 0 GRK4 2868 broad.mit.edu 37 4 3024175 3024175 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:3024175C>T ENST00000398052.4 + 10 1310 c.967C>T c.(967-969)Cgt>Tgt p.R323C GRK4_ENST00000504933.1_Missense_Mutation_p.R323C|GRK4_ENST00000398051.4_Missense_Mutation_p.R291C|GRK4_ENST00000345167.6_Missense_Mutation_p.R291C NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 323 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity p.R323C(1) lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCTTGATGATCGTGGTAAGTG 0.423000 48 114 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14548331 14548331 + RNA SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:14548331G>A ENST00000273083.3 - 0 2440 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 AGCCACCCTCGGTGGCCGAGC 0.657000 3 11 0 0 1 0 0 OR52E4 390081 broad.mit.edu 37 11 5905804 5905804 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:5905804C>T ENST00000316987.2 + 1 304 c.282C>T c.(280-282)atC>atT p.I94I NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCAAGAGATCAGCTTTGGGG 0.458000 42 132 0 0 1 0 0 OR4K14 122740 broad.mit.edu 37 14 20483063 20483063 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:20483063C>T ENST00000305045.2 - 1 289 c.290G>A c.(289-291)gGa>gAa p.G97E NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) AGCCATACATCCTCCAAAGGA 0.488000 23 52 0 0 1 0 0 DUSP1 1843 broad.mit.edu 37 5 172195898 172195898 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:172195898G>A ENST00000239223.3 - 4 1213 c.971C>T c.(970-972)cCc>cTc p.P324L RP11-779O18.3_ENST00000523005.1_RNA NM_004417.3 NP_004408.1 P28562 DUS1_HUMAN dual specificity phosphatase 1 324 Tyrosine-protein phosphatase. cell cycle|endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 10 Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729) all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GBM - Glioblastoma multiforme(465;0.0103) AGCCATGGCGGGGCTCCCAGC 0.617000 26 56 0 0 1 0 0 ZNF382 84911 broad.mit.edu 37 19 37117984 37117984 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:37117984C>T ENST00000435416.1 + 3 2677 c.1182C>T c.(1180-1182)ctC>ctT p.L394L ZNF382_ENST00000439428.1_Silent_p.L394L|ZNF382_ENST00000423582.1_Silent_p.L346L|ZNF382_ENST00000292928.2_Silent_p.L395L Q96SR6 ZN382_HUMAN zinc finger protein 382 395 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AGTCATACCTCATTGATCACC 0.468000 33 79 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9243864 9243864 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:9243864G>A ENST00000318602.7 - 19 2709 c.2402C>T c.(2401-2403)tCt>tTt p.S801F NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 801 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) ACGAATCACAGAGTAAGGCAT 0.507000 24 95 0 0 1 0 0 PMS2 5395 broad.mit.edu 37 7 6045616 6045616 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:6045616G>A ENST00000265849.7 - 2 175 c.70C>T c.(70-72)Cat>Tat p.H24Y PMS2_ENST00000406569.3_Missense_Mutation_p.H24Y|PMS2_ENST00000382321.4_Missense_Mutation_p.H24Y|PMS2_ENST00000469652.1_Intron NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 24 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) CAAATCTGATGGACTGACTTC 0.408000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 77 216 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31538286 31538286 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr18:31538286C>T ENST00000261592.5 - 7 1450 c.1153G>A c.(1153-1155)Gaa>Aaa p.E385K NOL4_ENST00000589544.1_Missense_Mutation_p.E385K|NOL4_ENST00000538587.1_Missense_Mutation_p.E311K|NOL4_ENST00000535475.1_Missense_Mutation_p.E230K|NOL4_ENST00000535384.1_Missense_Mutation_p.E100K|NOL4_ENST00000269185.4_Missense_Mutation_p.E271K NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 385 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 TGGTCATCTTCGTCCTCATCT 0.502000 53 155 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16348345 16348345 + Missense_Mutation SNP C C G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:16348345C>G ENST00000408042.1 - 23 3782 c.3625G>C c.(3625-3627)Gtt>Ctt p.V1209L KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000378003.2_Intron NM_001199866.1 NP_001186795.1 Q96L93 KI16B_HUMAN kinesin family member 16B 0 PX. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TTTGGCAAAACTAAATCAGGG 0.448000 12 20 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12855638 12855638 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:12855638G>A ENST00000332296.7 + 4 1021 c.918G>A c.(916-918)ttG>ttA p.L306L PRAMEF1_ENST00000400814.3_Silent_p.L61L NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 306 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCTACCTATTGGAAGAAGACA 0.478000 51 46 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107626774 107626774 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:107626774G>A ENST00000393561.1 - 4 714 c.530C>T c.(529-531)tCg>tTg p.S177L LAMB1_ENST00000222399.6_Missense_Mutation_p.S153L|LAMB1_ENST00000393560.1_Missense_Mutation_p.S153L P07942 LAMB1_HUMAN laminin, beta 1 153 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent p.S153L(1) NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAAGTCGGACGATCGTTCTAT 0.428000 30 76 0 0 1 0 0 MX2 4600 broad.mit.edu 37 21 42748973 42748973 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr21:42748973C>T ENST00000330714.3 + 2 324 c.140C>T c.(139-141)cCa>cTa p.P47L MX2_ENST00000543692.1_Missense_Mutation_p.P47L NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 47 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) ATGTTTCCTCCAAACTGGCAG 0.483000 51 123 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530097 140530097 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:140530097G>A ENST00000231136.1 + 1 259 c.259G>A c.(259-261)Gaa>Aaa p.E87K PCDHB6_ENST00000543635.1_5'UTR NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 87 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTGCTAAATGAAAAACTGGA 0.517000 34 100 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10971334 10971334 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr21:10971334G>A ENST00000298232.7 - 5 390 c.23C>T c.(22-24)aCt>aTt p.T8I TPTE_ENST00000342420.5_Missense_Mutation_p.T8I|TPTE_ENST00000361285.4_Missense_Mutation_p.T8I|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 8 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) CGCCAGGTCAGTCGGATCAGG 0.448000 6 53 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13769113 13769113 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:13769113C>T ENST00000265104.4 - 58 9957 c.9853G>A c.(9853-9855)Gaa>Aaa p.E3285K DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3285 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) TTTGCTGCTTCCAGTTTTTCT 0.468000 Kartagener syndrome 57 151 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82581373 82581373 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:82581373G>A ENST00000423517.2 - 5 9233 c.8896C>T c.(8896-8898)Cgt>Tgt p.R2966C PCLO_ENST00000333891.8_Missense_Mutation_p.R2966C NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2897 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R2897C(1)|p.R2966C(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TAACCAAAACGATCCTCAGGA 0.463000 45 139 0 0 1 0 0 PPP6R3 55291 broad.mit.edu 37 11 68337239 68337239 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:68337239G>A ENST00000393799.2 + 11 1419 c.1152G>A c.(1150-1152)tgG>tgA p.W384* PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.W384*|PPP6R3_ENST00000393800.2_Nonsense_Mutation_p.W384*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.W384*|PPP6R3_ENST00000534534.1_Nonsense_Mutation_p.W152*|PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.W333*|PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.W384*|PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.W384*|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.W384*|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.W333* Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 384 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 AGTATACATGGAATAACTTTT 0.323000 66 46 0 0 1 0 0 ANKRD22 118932 broad.mit.edu 37 10 90585838 90585838 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:90585838C>T ENST00000371930.4 - 4 566 c.356G>A c.(355-357)cGa>cAa p.R119Q NM_144590.2 NP_653191.2 Q5VYY1 ANR22_HUMAN ankyrin repeat domain 22 119 p.R119Q(1) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 Colorectal(252;0.0163) Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05) AAGTAGCATTCGTACAAGAGC 0.328000 20 68 0 0 1 0 0 DAG1 1605 broad.mit.edu 37 3 49568863 49568863 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:49568863C>T ENST00000545947.1 + 6 1641 c.919C>T c.(919-921)Ccc>Tcc p.P307S DAG1_ENST00000538711.1_Missense_Mutation_p.P307S|DAG1_ENST00000539901.1_Missense_Mutation_p.P307S|DAG1_ENST00000308775.2_Missense_Mutation_p.P307S|DAG1_ENST00000541308.1_Missense_Mutation_p.P307S|DAG1_ENST00000515359.2_Missense_Mutation_p.P307S NM_001177634.2 NP_001171105.1 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 307 Required for laminin recognition. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GCCCCCTCTTCCCAAACGCGT 0.617000 36 87 0 0 1 0 0 APBB1IP 54518 broad.mit.edu 37 10 26785320 26785320 + Splice_Site SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:26785320G>A ENST00000376236.4 + 4 615 c.160_splice c.e4+1 p.E54_splice APBB1IP_ENST00000356785.4_Splice_Site_p.E54_splice NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 54 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 AGATTTAAATGGTAAGCATAA 0.318000 21 48 0 0 1 0 0 B3GAT1 27087 broad.mit.edu 37 11 134253616 134253616 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:134253616G>A ENST00000524765.1 - 3 5123 c.579C>T c.(577-579)ttC>ttT p.F193F B3GAT1_ENST00000392580.1_Silent_p.F193F|B3GAT1_ENST00000312527.4_Silent_p.F193F|B3GAT1_ENST00000537389.1_Silent_p.F206F Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) 193 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) CGTCGTCGGCGAAGTAGACCA 0.692000 8 4 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 132990750 132990750 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:132990750C>T ENST00000253861.4 + 4 620 c.591C>T c.(589-591)caC>caT p.H197H EXOC4_ENST00000539845.1_Silent_p.H96H|EXOC4_ENST00000393161.2_Silent_p.H197H NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 197 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) ATGAACTACACCGGCACCTGT 0.488000 26 55 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629578 1629578 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:1629578C>T ENST00000399685.1 - 1 115 c.38G>A c.(37-39)aGc>aAc p.S13N NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 13 keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) GCCCCCACAGCTGGAGCCACA 0.662000 57 134 0 0 1 0 0 CCNA1 8900 broad.mit.edu 37 13 37011993 37011993 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr13:37011993C>T ENST00000418263.1 + 3 872 c.522C>T c.(520-522)ttC>ttT p.F174F CCNA1_ENST00000255465.4_Silent_p.F175F|CCNA1_ENST00000440264.1_Silent_p.F131F|CCNA1_ENST00000449823.1_Silent_p.F131F NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 175 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) ACCTGCACTTCCTGCTGGATT 0.493000 49 109 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123136850 123136850 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:123136850C>T ENST00000466202.1 - 7 1710 c.1134G>A c.(1132-1134)agG>agA p.R378R IQUB_ENST00000324698.6_Silent_p.R378R|IQUB_ENST00000434450.1_Silent_p.R378R Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 378 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 CTCTTATCTTCCTTAGTTCTT 0.333000 12 24 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92531727 92531727 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:92531727C>T ENST00000298047.6 + 9 5565 c.5548C>T c.(5548-5550)Cat>Tat p.H1850Y FAT3_ENST00000525166.1_Missense_Mutation_p.H1700Y|FAT3_ENST00000409404.2_Missense_Mutation_p.H1850Y Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1850 Cadherin 16. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTTCCATTTTCATGTGCATGT 0.463000 TCGA Ovarian(4;0.039) 13 29 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60886298 60886298 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:60886298G>A ENST00000252999.3 - 73 10074 c.10008C>T c.(10006-10008)acC>acT p.T3336T NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3336 angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGTCTCGGGTGGTCCTGAGGT 0.682000 5 22 0 0 1 0 0 FRMD1 79981 broad.mit.edu 37 6 168467458 168467458 + Translation_Start_Site SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:168467458G>A ENST00000537786.1 - 0 156 FRMD1_ENST00000283309.6_Silent_p.Y146Y|FRMD1_ENST00000440994.2_Silent_p.Y78Y Q8N878 FRMD1_HUMAN FERM domain containing 1 cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CGTTTTCCACGTAGTGCTGCA 0.547000 27 34 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100393 168100393 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:168100393G>A ENST00000409195.1 + 9 2580 c.2491G>A c.(2491-2493)Gaa>Aaa p.E831K XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E831K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E609K|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 656 actin cytoskeleton organization cell junction actin binding p.E831K(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CATTGAAAAGGAAAAAATAAT 0.388000 40 92 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9076139 9076139 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:9076139G>A ENST00000397910.4 - 3 11510 c.11307C>T c.(11305-11307)atC>atT p.I3769I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3770 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 TAGCTGGGCTGATCATGGTTT 0.527000 60 127 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135429708 135429708 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:135429708G>A ENST00000394143.1 + 6 4134 c.3843G>A c.(3841-3843)aaG>aaA p.K1281K GPR112_ENST00000370652.1_Silent_p.K1281K|GPR112_ENST00000412101.1_Silent_p.K1076K|GPR112_ENST00000394141.1_Silent_p.K1076K|GPR112_ENST00000287534.4_Silent_p.K1218K NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1281 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) CCCCATCAAAGAATTCTTTTA 0.433000 30 52 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156812213 156812213 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:156812213G>A ENST00000368195.3 - 18 3610 c.3214C>T c.(3214-3216)Cga>Tga p.R1072* NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1072 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CGCAAAGATCGAAGATGGCTC 0.592000 32 102 0 0 1 0 0 SLC19A2 10560 broad.mit.edu 37 1 169446457 169446457 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:169446457G>A ENST00000236137.5 - 2 979 c.743C>T c.(742-744)cCt>cTt p.P248L SLC19A2_ENST00000367802.3_Intron|SLC19A2_ENST00000367804.3_Intron NM_006996.2 NP_008927.1 O60779 S19A2_HUMAN solute carrier family 19 (thiamine transporter), member 2 248 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.208) CTCCCAGCCAGGAAGGTGGTT 0.468000 42 98 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14905670 14905670 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:14905670C>T ENST00000285046.5 + 2 2671 c.2561C>T c.(2560-2562)tCg>tTg p.S854L FGD5_ENST00000543601.1_Missense_Mutation_p.S613L NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 854 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TGTCCCATCTCGTCGGCAGCC 0.532000 27 61 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 44917198 44917198 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:44917198C>T ENST00000429094.2 - 17 2378 c.1874G>A c.(1873-1875)gGa>gAa p.G625E NELL2_ENST00000395487.2_Missense_Mutation_p.G624E|NELL2_ENST00000452445.2_Missense_Mutation_p.G625E|NELL2_ENST00000549027.1_Missense_Mutation_p.G624E|NELL2_ENST00000551601.1_Missense_Mutation_p.G577E|NELL2_ENST00000437801.2_Missense_Mutation_p.G675E|NELL2_ENST00000333837.4_Missense_Mutation_p.G648E NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 625 EGF-like 6; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity p.G625A(1)|p.G675A(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) ACAATCATATCCGCCATCCAA 0.443000 34 89 0 0 1 0 0 FGF20 26281 broad.mit.edu 37 8 16850796 16850796 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:16850796C>T ENST00000180166.5 - 3 569 c.421G>A c.(421-423)Gag>Aag p.E141K NM_019851.2 NP_062825.1 Q9NP95 FGF20_HUMAN fibroblast growth factor 20 141 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway extracellular region|soluble fraction growth factor activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 11 Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207) TCAAACTGCTCCCTAAAGATG 0.348000 41 127 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159283829 159283829 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:159283829G>A ENST00000332217.5 - 1 620 c.621C>T c.(619-621)gtC>gtT p.V207V NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V207V(1) breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) GTAGAACAAGGACACAGACGC 0.478000 39 121 0 0 1 0 0 DCAF4 26094 broad.mit.edu 37 14 73406578 73406578 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:73406578C>T ENST00000555042.1 + 3 226 c.161C>T c.(160-162)tCg>tTg p.S54L DCAF4_ENST00000394234.2_5'UTR|DCAF4_ENST00000358377.2_Missense_Mutation_p.S54L|DCAF4_ENST00000353777.3_Missense_Mutation_p.S54L|DCAF4_ENST00000510612.1_3'UTR|DCAF4_ENST00000553457.1_5'UTR|DCAF4_ENST00000509153.1_Missense_Mutation_p.S54L NM_001163508.1 NP_001156980.1 Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 54 CUL4 RING ubiquitin ligase complex NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 CCGTCAACCTCGTCTGGCACA 0.622000 9 10 0 0 1 0 0 UQCRC1 7384 broad.mit.edu 37 3 48641066 48641066 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:48641066G>A ENST00000203407.5 - 6 1053 c.637C>T c.(637-639)Cgt>Tgt p.R213C NM_003365.2 NP_003356.2 P31930 QCR1_HUMAN ubiquinol-cytochrome c reductase core protein I 213 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) AAGTCTGCACGAGACAGCTTC 0.527000 13 28 0 0 1 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672781 141672781 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:141672781G>A ENST00000547270.1 - 1 792 c.709C>T c.(709-711)Ccc>Tcc p.P237S NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 237 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) TCCAGGCTGGGGTCACGAGAG 0.498000 20 58 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156589940 156589940 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:156589940G>A ENST00000302938.4 - 2 1431 c.1336C>T c.(1336-1338)Cac>Tac p.H446Y NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 446 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCCTTGCGGTGATGAGAACTT 0.502000 63 139 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120797766 120797766 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:120797766G>A ENST00000369144.3 - 20 3839 c.3712C>T c.(3712-3714)Cgc>Tgc p.R1238C EIF3A_ENST00000541549.1_Missense_Mutation_p.R1204C|EIF3A_ENST00000478852.1_Intron NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 1238 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) CTTCTGAAGCGATCCTCTCGA 0.493000 23 45 0 0 1 0 0 DEFB119 245932 broad.mit.edu 37 20 29976852 29976852 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:29976852C>T ENST00000376315.2 - 2 242 c.243G>A c.(241-243)atG>atA p.M81I DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376321.3_Intron NM_001271209.1|NM_153323.4 NP_001258138.1|NP_697018.1 Q8N690 DB119_HUMAN defensin, beta 119 0 defense response to bacterium extracellular region p.M81I(1) large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TATTTGTCTTCATTTTTGGAG 0.383000 14 51 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11348193 11348193 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:11348193G>A ENST00000294618.7 - 18 2023 c.2012C>T c.(2011-2013)cCc>cTc p.P671L C19orf80_ENST00000591200.1_5'UTR|DOCK6_ENST00000319867.7_5'UTR NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 671 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 GAGACAGAAGGGGCCGGTCCT 0.672000 21 52 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160721324 160721324 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:160721324C>T ENST00000274547.2 - 11 1520 c.1303G>A c.(1303-1305)Gat>Aat p.D435N GABRB2_ENST00000517901.1_Missense_Mutation_p.D334N|GABRB2_ENST00000393959.1_Missense_Mutation_p.D435N|GABRB2_ENST00000520240.1_Missense_Mutation_p.D397N|GABRB2_ENST00000353437.6_Missense_Mutation_p.D397N|GABRB2_ENST00000517547.1_Missense_Mutation_p.D237N NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 435 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CTGGAGGCATCATAGGCTAGC 0.498000 29 73 0 0 1 0 0 LSG1 55341 broad.mit.edu 37 3 194379860 194379860 + Missense_Mutation SNP T T A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:194379860T>A ENST00000265245.5 - 7 899 c.585A>T c.(583-585)gaA>gaT p.E195D NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 195 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) TCACATAACATTCCTAAGCAA 0.398000 43 92 0 0 1 0 0 LOC101928215 101928215 broad.mit.edu 37 16 29115563 29115563 + RNA SNP G G T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:29115563G>T ENST00000562618.1 - 0 1254 RRN3P2_ENST00000564580.1_RNA ATAGTAAGTGGCAAgtcgctc 0.488000 22 42 1.96292e-10 1.98544e-10 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113316976 113316976 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:113316976C>T ENST00000297405.5 - 52 8484 c.8240G>A c.(8239-8241)tGg>tAg p.W2747* CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W2707*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W2677*|CSMD3_ENST00000455883.2_Intron NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2747 Sushi 16. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTCATTTCTCCAACTCCAAGT 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 29 57 0 0 1 0 0 SERAC1 84947 broad.mit.edu 37 6 158534506 158534506 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:158534506G>A ENST00000367104.3 - 16 1934 c.1803C>T c.(1801-1803)ctC>ctT p.L601L SERAC1_ENST00000367102.2_3'UTR NM_032861.3 NP_116250.3 Q96JX3 SRAC1_HUMAN serine active site containing 1 601 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) GTACCACATGGAGCTTAATCA 0.383000 20 58 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4854879 4854879 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:4854879G>A ENST00000354582.6 + 56 7827 c.7477G>A c.(7477-7479)Gag>Aag p.E2493K ITPR1_ENST00000544951.1_Missense_Mutation_p.E471K|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Missense_Mutation_p.E2445K|ITPR1_ENST00000443694.2_Missense_Mutation_p.E2493K|ITPR1_ENST00000423119.2_Missense_Mutation_p.E2460K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E2460K|ITPR1_ENST00000302640.8_Missense_Mutation_p.E2493K Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 2508 Interaction with ERP44 (By similarity). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GTGTAGGGTGGAGAGTGGGGA 0.507000 44 71 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7700489 7700489 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:7700489G>A ENST00000303635.7 + 7 747 c.540G>A c.(538-540)ctG>ctA p.L180L CAMTA1_ENST00000439411.2_Silent_p.L180L NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TGCACTACCTGAACGTGCCGG 0.632000 T WWTR1 epitheliod hemangioendothelioma 28 45 0 0 1 0 0 RDH8 50700 broad.mit.edu 37 19 10129507 10129507 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:10129507C>T ENST00000591589.1 + 3 612 c.423C>T c.(421-423)ctC>ctT p.L141L RDH8_ENST00000171214.1_Silent_p.L121L Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 121 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) CTGTCCGTCTCGTCAAAGCTG 0.592000 34 102 0 0 1 0 0 UBE2U 148581 broad.mit.edu 37 1 64671363 64671363 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:64671363G>A ENST00000371077.4 + 2 532 c.108G>A c.(106-108)tgG>tgA p.W36* UBE2U_ENST00000371076.3_Nonsense_Mutation_p.W36* Q5VVX9 UBE2U_HUMAN ubiquitin-conjugating enzyme E2U (putative) 36 ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(3)|lung(2)|skin(1) 6 TGATGGAATGGGAAGTTGAAA 0.289000 18 79 0 0 1 0 0 LGI3 203190 broad.mit.edu 37 8 22006032 22006032 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:22006032G>A ENST00000306317.2 - 8 1577 c.1288C>T c.(1288-1290)Cgt>Tgt p.R430C LGI3_ENST00000424267.2_Missense_Mutation_p.R406C NM_139278.2 NP_644807.1 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 430 exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome p.R430G(1) endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 17 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) CGGCCGGCACGAAAGTGTTTC 0.632000 11 38 0 0 1 0 0 FHL3 2275 broad.mit.edu 37 1 38465046 38465046 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:38465046G>A ENST00000373016.3 - 2 207 c.39C>T c.(37-39)tcC>tcT p.S13S FHL3_ENST00000485803.1_Intron NM_001243878.1|NM_004468.4 NP_001230807.1|NP_004459.2 Q13643 FHL3_HUMAN four and a half LIM domains 3 13 muscle organ development zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GTCCATACAGGGACTCGTTGC 0.542000 20 52 0 0 1 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401558 11401558 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:11401558C>T ENST00000002596.5 - 2 1246 c.72G>A c.(70-72)gaG>gaA p.E24E NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 24 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 GCTGGCCTAGCTCGGCGGGGC 0.706000 6 9 0 0 1 0 0 DAND5 199699 broad.mit.edu 37 19 13080430 13080430 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:13080430C>T ENST00000585548.1 + 2 142 c.46C>T c.(46-48)Cca>Tca p.P16S DAND5_ENST00000317060.2_5'UTR Q8N907 DAND5_HUMAN DAN domain family member 5, BMP antagonist 0 extracellular region kidney(2)|lung(3)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(19;1.87e-18) GACCTTGAGCCCAGTCCGgac 0.587000 44 74 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29056140 29056140 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr18:29056140C>T ENST00000257189.4 + 16 3000 c.2917C>T c.(2917-2919)Cct>Tct p.P973S NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 973 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TTCCAGTGTTCCTGGCAACCT 0.498000 46 128 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65266531 65266531 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:65266531G>A ENST00000389722.3 - 8 1051 c.998C>T c.(997-999)tCg>tTg p.S333L SPTB_ENST00000389720.3_Missense_Mutation_p.S333L|SPTB_ENST00000556626.1_Missense_Mutation_p.S333L|SPTB_ENST00000389721.5_Missense_Mutation_p.S333L|SPTB_ENST00000542895.1_Missense_Mutation_p.S333L NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 333 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GCCCGTCAGCGAGTTGGCAAA 0.602000 20 71 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101198081 101198081 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:101198081C>T ENST00000294728.2 + 7 1734 c.1633C>T c.(1633-1635)Ctg>Ttg p.L545L VCAM1_ENST00000370115.1_Silent_p.L346L|VCAM1_ENST00000370119.4_Silent_p.L483L|VCAM1_ENST00000347652.2_Silent_p.L453L NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 545 Ig-like C2-type 6. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TCCGAAAATCCTGTGGAGCAG 0.488000 45 77 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7580990 7580990 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:7580990G>A ENST00000379802.3 + 23 4908 c.4567G>A c.(4567-4569)Gag>Aag p.E1523K DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1523 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TAGTGCGACGGAGACAATAAA 0.468000 30 103 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143623447 143623447 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:143623447C>T ENST00000517894.1 + 28 4746 c.3852C>T c.(3850-3852)tcC>tcT p.S1284S BAI1_ENST00000323289.5_Silent_p.S1284S O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1284 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CCAACGTGTCCAAGCTGCACC 0.662000 15 31 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769800 247769800 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:247769800C>T ENST00000320002.2 + 1 945 c.913C>T c.(913-915)Ctc>Ttc p.L305F RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 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;0.017) GAGGAAACTTCTCTCGGGAAA 0.383000 24 87 0 0 1 0 0 LRRC1 55227 broad.mit.edu 37 6 53747712 53747712 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:53747712G>A ENST00000370888.1 + 4 661 c.384G>A c.(382-384)caG>caA p.Q128Q LRRC1_ENST00000370882.1_Silent_p.Q128Q NM_018214.4 NP_060684.4 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 128 cytoplasm|membrane cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) CTGAATTACAGAATTTAACAT 0.323000 9 37 0 0 1 0 0 FBXL20 84961 broad.mit.edu 37 17 37417768 37417768 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:37417768G>A ENST00000264658.6 - 15 1516 c.1256C>T c.(1255-1257)cCc>cTc p.P419L FBXL20_ENST00000577399.1_Missense_Mutation_p.P421L|FBXL20_ENST00000394294.3_Missense_Mutation_p.P387L|FBXL20_ENST00000583610.1_Missense_Mutation_p.P419L NM_032875.2 NP_116264.2 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 419 cytoplasm breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 LUAD - Lung adenocarcinoma(14;0.146) TACTGATGGGGGTGGAGTGAC 0.468000 35 82 0 0 1 0 0 ELMOD3 84173 broad.mit.edu 37 2 85598217 85598217 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:85598217C>T ENST00000315658.7 + 7 628 c.369C>T c.(367-369)atC>atT p.I123I ELMOD3_ENST00000409890.2_Silent_p.I123I|ELMOD3_ENST00000428955.2_Silent_p.I123I|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409344.3_Silent_p.I123I|ELMOD3_ENST00000393852.4_Silent_p.I123I|ELMOD3_ENST00000409013.3_Silent_p.I123I NM_032213.4 NP_115589.2 Q96FG2 ELMD3_HUMAN ELMO/CED-12 domain containing 3 123 phagocytosis cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 12 AGAAAAGAATCCAGCCAACTA 0.557000 74 170 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197073244 197073244 + Missense_Mutation SNP G G A rs143911853 TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:197073244G>A ENST00000367409.4 - 18 5393 c.5137C>T c.(5137-5139)Cgt>Tgt p.R1713C ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1713 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TTTTTGGAACGGTAACATTGC 0.358000 43 97 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315607 30315607 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:30315607G>A ENST00000375377.1 - 3 3571 c.3470C>T c.(3469-3471)cCt>cTt p.P1157L NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1157 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TACAAAGAGAGGGCTCTTGGT 0.607000 41 116 0 0 1 0 0 DLG4 1742 broad.mit.edu 37 17 7100290 7100290 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:7100290G>A ENST00000399510.2 - 11 1850 c.998C>T c.(997-999)tCc>tTc p.S333F DLG4_ENST00000302955.6_Missense_Mutation_p.S287F|DLG4_ENST00000399506.2_Missense_Mutation_p.S290F NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 290 PDZ 3. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 GCGCCGAGGGGAAGTGGGGGT 0.617000 4 26 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143081732 143081732 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:143081732G>A ENST00000367603.2 - 9 6435 c.5693C>T c.(5692-5694)tCc>tTc p.S1898F HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1898F|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S1898F NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1898 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CTCAGCATCGGAGAACTGATG 0.388000 12 38 0 0 1 0 0 SCYL1 57410 broad.mit.edu 37 11 65294435 65294435 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:65294435C>T ENST00000524944.1 + 6 729 c.696C>T c.(694-696)atC>atT p.I232I SCYL1_ENST00000270176.5_Silent_p.I232I|SCYL1_ENST00000525364.1_Silent_p.I232I|SCYL1_ENST00000533862.1_Silent_p.I232I|SCYL1_ENST00000420247.2_Silent_p.I232I|SCYL1_ENST00000527009.1_Silent_p.I89I|SCYL1_ENST00000279270.6_Silent_p.I232I|SCYL1_ENST00000527630.1_Silent_p.I232I Q96KG9 NTKL_HUMAN SCY1-like 1 (S. cerevisiae) 232 Protein kinase. regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity ovary(1)|skin(1) 2 CCCTACAGATCCCCAAAACGC 0.637000 9 40 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168106696 168106696 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:168106696G>A ENST00000409195.1 + 9 8883 c.8794G>A c.(8794-8796)Gaa>Aaa p.E2932K XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2932K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2710K|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2757 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CTCTGTGAAAGAATCCCAGCG 0.378000 40 102 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101084398 101084398 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:101084398C>T ENST00000360863.6 - 5 594 c.400G>A c.(400-402)Gaa>Aaa p.E134K RGS22_ENST00000523437.1_Missense_Mutation_p.E134K|RGS22_ENST00000523287.1_Intron NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 134 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) CAATCACTTTCCAGAAATGCT 0.338000 24 62 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156381661 156381661 + Silent SNP C C G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:156381661C>G ENST00000274532.2 - 2 221 c.165G>C c.(163-165)ggG>ggC p.G55G TIMD4_ENST00000407087.3_Silent_p.G55G NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 55 Ig-like V-type. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACTGGTCTTTCCCCCAGCACA 0.532000 29 53 0 0 1 0 0 F2RL1 2150 broad.mit.edu 37 5 76128663 76128663 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:76128663C>T ENST00000296677.4 + 2 437 c.231C>T c.(229-231)ttC>ttT p.F77F NM_005242.4 NP_005233.3 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 77 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) CCACTGTCTTCCTTCCAATTG 0.468000 51 164 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70946726 70946726 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:70946726G>A ENST00000334414.6 - 21 5262 c.5218C>T c.(5218-5220)Cgg>Tgg p.R1740W PTPRB_ENST00000451516.2_Missense_Mutation_p.R1432W|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1652W|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1522W|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1432W|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1432W NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1522 Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGATACACCCGAATGGAGGCA 0.483000 47 116 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67148008 67148008 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:67148008C>T ENST00000371037.4 + 15 1348 c.1271C>T c.(1270-1272)tCg>tTg p.S424L SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.S428L NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 424 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 ACTGTGGTTTCGTCCCCCGGA 0.552000 74 256 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24874743 24874743 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:24874743G>A ENST00000396432.2 - 26 4961 c.4475C>T c.(4474-4476)tCa>tTa p.S1492L NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1491 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 TTTTCCTAGTGATATCTTTTC 0.438000 72 200 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51757773 51757773 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:51757773C>T ENST00000251076.5 - 31 7880 c.7593G>A c.(7591-7593)ctG>ctA p.L2531L DMXL2_ENST00000449909.3_Silent_p.L1895L|DMXL2_ENST00000543779.2_Silent_p.L2532L|RP11-707P17.1_ENST00000561007.1_RNA NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2531 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CAGAGAATTCCAGTCCAGCAA 0.338000 33 119 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62462784 62462784 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:62462784C>T ENST00000430451.2 + 1 244 c.47C>T c.(46-48)cCt>cTt p.P16L SYT16_ENST00000446982.2_Missense_Mutation_p.P16L NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 16 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) TTCTTCCAGCCTTTCTCTTCC 0.463000 20 52 0 0 1 0 0 OR52E4 390081 broad.mit.edu 37 11 5905934 5905934 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:5905934C>T ENST00000316987.2 + 1 434 c.412C>T c.(412-414)Ctc>Ttc p.L138F NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACCATGATCCTCACCAATAA 0.438000 29 103 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82452714 82452714 + Splice_Site SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:82452714G>A ENST00000370728.1 + 24 4270 c.e24+1 LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370723.1_Splice_Site|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000370725.1_Splice_Site|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000370717.2_Splice_Site|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000394879.1_Splice_Site|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370721.1_Splice_Site O95490 LPHN2_HUMAN latrophilin 2 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AACTCACCAGGTGTGCTTTAC 0.393000 21 51 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137237251 137237251 + Missense_Mutation SNP T T C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:137237251T>C ENST00000453654.1 - 20 1650 c.1111A>G c.(1111-1113)Act>Gct p.T371A DGKI_ENST00000424189.2_Missense_Mutation_p.T671A|DGKI_ENST00000288490.5_Missense_Mutation_p.T671A|DGKI_ENST00000446122.1_Missense_Mutation_p.T671A O75912 DGKI_HUMAN diacylglycerol kinase, iota 671 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GATTTGTAAGTTAGAAGCATG 0.517000 54 121 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560390 44560390 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr18:44560390C>T ENST00000332567.4 - 1 1598 c.1246G>A c.(1246-1248)Gaa>Aaa p.E416K KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 416 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding p.E416K(1) breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CCCTTGGATTCGTTTGCTTTC 0.507000 34 80 0 0 1 0 0 NPAS1 4861 broad.mit.edu 37 19 47542691 47542691 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:47542691G>A ENST00000602212.1 + 8 1051 c.831G>A c.(829-831)cgG>cgA p.R277R NPAS1_ENST00000602189.1_Silent_p.R102R|NPAS1_ENST00000449844.2_Silent_p.R277R|NPAS1_ENST00000439365.2_Silent_p.R101R Q99742 NPAS1_HUMAN neuronal PAS domain protein 1 277 central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) GGCGCCTTCGGGCCCACGCCC 0.687000 26 55 0 0 1 0 0 OR51I1 390063 broad.mit.edu 37 11 5462631 5462631 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:5462631C>T ENST00000380211.1 - 1 113 c.114G>A c.(112-114)atG>atA p.M38I HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAATGGAGATCATGTAGAGGA 0.522000 42 111 0 0 1 0 0 CAB39L 81617 broad.mit.edu 37 13 49885024 49885024 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr13:49885024C>T ENST00000355854.4 - 9 1437 c.940G>A c.(940-942)Gat>Aat p.D314N CAB39L_ENST00000409130.1_Missense_Mutation_p.D170N|CAB39L_ENST00000409308.1_Missense_Mutation_p.D314N|CAB39L_ENST00000347776.5_Missense_Mutation_p.D314N|CAB39L_ENST00000410043.1_Missense_Mutation_p.D314N NM_030925.2 NP_112187.2 Q9H9S4 CB39L_HUMAN calcium binding protein 39-like 314 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1) 12 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) TGCTCATCATCCGTCCTTTCT 0.478000 60 153 0 0 1 0 0 SYT15 83849 broad.mit.edu 37 10 46965029 46965029 + Missense_Mutation SNP G G A rs146472908 by1000genomes TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:46965029G>A ENST00000374323.3 - 5 1662 c.1075C>T c.(1075-1077)Cgg>Tgg p.R359W SYT15_ENST00000374325.3_Missense_Mutation_p.R306W|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Missense_Mutation_p.R306W|SYT15_ENST00000503753.1_Missense_Mutation_p.R306W Q9BQS2 SYT15_HUMAN synaptotagmin XV 306 C2 2. integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 TCCTGGAGCCGGAGGCCCTTG 0.632000 10 49 0 0 1 0 0 DRG2 1819 broad.mit.edu 37 17 18004859 18004859 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:18004859C>T ENST00000225729.3 + 8 822 c.684C>T c.(682-684)ttC>ttT p.F228F DRG2_ENST00000395726.4_Silent_p.F228F|DRG2_ENST00000583355.1_Intron NM_001388.4 NP_001379.1 P55039 DRG2_HUMAN developmentally regulated GTP binding protein 2 228 signal transduction GTP binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 14 all_neural(463;0.228) CGGACGAGTTCATCGATGTGA 0.582000 33 58 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323881 79323881 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr9:79323881G>A ENST00000428286.1 - 8 3432 c.2232C>T c.(2230-2232)aaC>aaT p.N744N PRUNE2_ENST00000376718.3_Silent_p.N1103N Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1103 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCTGCCGGGAGTTGGTGCTGC 0.512000 45 65 0 0 1 0 0 IGSF3 3321 broad.mit.edu 37 1 117120086 117120086 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:117120086G>A ENST00000369486.3 - 11 4198 c.3433C>T c.(3433-3435)Ctt>Ttt p.L1145F IGSF3_ENST00000369483.1_Missense_Mutation_p.L1165F|IGSF3_ENST00000318837.6_Missense_Mutation_p.L1165F NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 1145 integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) CGCACCAGAAGGATGGTGATG 0.522000 38 54 0 0 1 0 0 SLC25A11 8402 broad.mit.edu 37 17 4841164 4841164 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:4841164C>T ENST00000225665.7 - 8 1157 c.817G>A c.(817-819)Gag>Aag p.E273K SLC25A11_ENST00000544061.2_Missense_Mutation_p.E222K NM_001165417.1|NM_003562.4 NP_001158889.1|NP_003553.2 Q02978 M2OM_HUMAN solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 273 gluconeogenesis integral to plasma membrane|mitochondrial inner membrane oxoglutarate:malate antiporter activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 10 AAGAAGCCCTCGTAGCGGACA 0.607000 44 90 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78444801 78444801 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:78444801C>T ENST00000397909.2 + 11 2563 c.2390C>T c.(2389-2391)tCa>tTa p.S797L NAV3_ENST00000228327.6_Missense_Mutation_p.S797L|NAV3_ENST00000536525.2_Missense_Mutation_p.S797L|NAV3_ENST00000266692.7_Missense_Mutation_p.S797L Q8IVL0 NAV3_HUMAN neuron navigator 3 797 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GGAAACATGTCACAGATTGAC 0.507000 HNSCC(70;0.22) 24 53 0 0 1 0 0 OR52L1 338751 broad.mit.edu 37 11 6007701 6007701 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:6007701G>A ENST00000332249.4 - 1 514 c.460C>T c.(460-462)Ctg>Ttg p.L154L NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTGGATGCAGGATTGTGGAA 0.507000 21 56 0 0 1 0 0 CLVS2 134829 broad.mit.edu 37 6 123319236 123319236 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:123319236C>T ENST00000275162.4 + 2 1649 c.314C>T c.(313-315)cCt>cTt p.P105L CLVS2_ENST00000368438.1_Intron NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 105 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 GATGGCTTCCCTGGGGGCCTG 0.512000 28 93 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431178 56431178 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:56431178G>A ENST00000302969.2 + 1 41 c.17G>A c.(16-18)aGc>aAc p.S6N NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 AAAGAAAACAGCTCAATGGTG 0.393000 40 123 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196837011 196837011 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:196837011C>T ENST00000312428.6 - 16 2113 c.2013G>A c.(2011-2013)agG>agA p.R671R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 671 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TAATGATTTTCCTGTGTTCTT 0.328000 19 72 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124345657 124345657 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:124345657C>T ENST00000338354.3 + 16 1647 c.1541C>T c.(1540-1542)tCc>tTc p.S514F DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.S504F|DMBT1_ENST00000368909.3_Missense_Mutation_p.S514F|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.S504F Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 514 SRCR 4. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TACCGAGGCTCCTGGGGCACC 0.587000 155 138 0 0 1 0 0 DPH6 89978 broad.mit.edu 37 15 35830584 35830584 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:35830584G>A ENST00000440392.2 - 3 253 c.203C>T c.(202-204)cCc>cTc p.P68L DPH6_ENST00000256538.4_Missense_Mutation_p.P68L NM_001141972.1 NP_001135444.1 diphthamine biosynthesis 6 GCGATAGAGGGGAAGAGCCAT 0.443000 37 95 0 0 1 0 0 ZNF248 57209 broad.mit.edu 37 10 38121734 38121734 + Silent SNP G G A rs145831910 TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:38121734G>A ENST00000395867.3 - 6 1099 c.549C>T c.(547-549)atC>atT p.I183I ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Silent_p.I183I|ZNF248_ENST00000494133.1_Intron NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 CTCCAATAGGGATTTTCTCAT 0.343000 18 63 0 0 1 0 0 DOK5 55816 broad.mit.edu 37 20 53171482 53171482 + Translation_Start_Site SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:53171482G>A ENST00000395939.1 + 0 198 DOK5_ENST00000262593.5_Missense_Mutation_p.R26Q Q9P104 DOK5_HUMAN docking protein 5 insulin receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1) 19 Colorectal(105;0.202) ATTTATCAGCGATGCTGGTTA 0.373000 15 30 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67698438 67698438 + Missense_Mutation SNP G G C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:67698438G>C ENST00000545606.1 + 9 1784 c.1347G>C c.(1345-1347)aaG>aaC p.K449N NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 449 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) AAAGTGTGAAGACCCGACAGT 0.388000 25 46 0 0 1 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65713198 65713198 + RNA SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:65713198C>T ENST00000532620.1 + 0 283 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein endometrium(2)|kidney(3)|lung(9) 14 GGTTAGGACCCCGTCGGTGTG 0.607000 14 46 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159283909 159283909 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:159283909C>T ENST00000332217.5 - 1 540 c.541G>A c.(541-543)Gat>Aat p.D181N NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) TGTCTCACATCACAGAAGAAG 0.498000 34 90 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47886646 47886646 + Missense_Mutation SNP A A T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:47886646A>T ENST00000289672.2 - 32 5034 c.4984T>A c.(4984-4986)Tta>Ata p.L1662I NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1662 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GCATCCAATAAGGATAAATAG 0.388000 15 21 0 0 1 0 0 STK10 6793 broad.mit.edu 37 5 171520703 171520703 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:171520703G>A ENST00000176763.5 - 9 1610 c.1267C>T c.(1267-1269)Cag>Tag p.Q423* NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 423 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGGGCTACCTGAATTCTGGCA 0.627000 23 31 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55127399 55127399 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:55127399G>A ENST00000257290.5 + 3 518 c.187G>A c.(187-189)Gaa>Aaa p.E63K PDGFRA_ENST00000508170.1_Missense_Mutation_p.E63K|FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 63 Ig-like C2-type 1. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CCCCATGTCTGAAGAAGAGAG 0.483000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 49 154 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325056 150325056 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:150325056G>A ENST00000328902.5 - 3 846 c.630C>T c.(628-630)gcC>gcT p.A210A GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 210 GTP binding p.A210A(1) endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCGCAGTTGGGCCTCCTGCT 0.532000 64 186 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92088437 92088437 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:92088437G>A ENST00000298047.6 + 1 3176 c.3159G>A c.(3157-3159)aaG>aaA p.K1053K FAT3_ENST00000525166.1_Silent_p.K903K|FAT3_ENST00000409404.2_Silent_p.K1053K|FAT3_ENST00000541502.1_Silent_p.K1053K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1053 Cadherin 10. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GATCTGTAAAGGAAAACTCAC 0.493000 TCGA Ovarian(4;0.039) 38 28 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52554112 52554112 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:52554112G>A ENST00000321725.6 + 51 5464 c.5388G>A c.(5386-5388)cgG>cgA p.R1796R NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1796 FAS1 6. 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) CCATTCTGCGGGGCCACATGA 0.617000 28 71 0 0 1 0 0 GLP2R 9340 broad.mit.edu 37 17 9792763 9792763 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:9792763G>A ENST00000262441.5 + 13 1916 c.1403G>A c.(1402-1404)gGg>gAg p.G468E GLP2R_ENST00000574745.1_Missense_Mutation_p.G288E NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 468 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) TGTGTCCTGGGGAAGGACTTC 0.592000 36 64 0 0 1 0 0 PRSS23 11098 broad.mit.edu 37 11 86518920 86518920 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:86518920G>A ENST00000280258.5 + 2 660 c.235G>A c.(235-237)Gaa>Aaa p.E79K PRSS23_ENST00000441050.1_Intron|PRSS23_ENST00000533902.2_Intron NM_007173.4 NP_009104.1 O95084 PRS23_HUMAN protease, serine, 23 79 proteolysis extracellular region|nucleus serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GCCCACTTACGAAGAGGCCAA 0.502000 29 69 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42931065 42931065 + Missense_Mutation SNP T T A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:42931065T>A ENST00000244289.4 - 1 513 c.237A>T c.(235-237)caA>caT p.Q79H LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 79 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) AAGCAGATTTTTGTTGGGCTC 0.517000 68 176 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26463190 26463190 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:26463190G>A ENST00000265944.5 + 30 4163 c.3997G>A c.(3997-3999)Gag>Aag p.E1333K MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1333 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GACAGTCAAAGAGAGGCAAGT 0.502000 41 105 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43926841 43926841 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr22:43926841C>T ENST00000262726.7 - 31 4490 c.4237G>A c.(4237-4239)Gaa>Aaa p.E1413K EFCAB6_ENST00000396231.2_Missense_Mutation_p.E1261K|EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000461800.1_5'UTR NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1413 Interaction with AR.|Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) GCGCCGGCTTCTTTCTAGACA 0.592000 27 53 0 0 1 0 0 ASPRV1 151516 broad.mit.edu 37 2 70188423 70188423 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:70188423G>A ENST00000320256.4 - 1 974 c.398C>T c.(397-399)aCc>aTc p.T133I NM_152792.2 NP_690005.2 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 133 protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 CCTTAGCTTGGTGATATGGTC 0.537000 19 45 0 0 1 0 0 GLYCTK 132158 broad.mit.edu 37 3 52324696 52324696 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:52324696C>T ENST00000354773.4 + 2 434 c.338C>T c.(337-339)cCc>cTc p.P113L GLYCTK_ENST00000473032.1_Missense_Mutation_p.P113L|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000436784.2_Missense_Mutation_p.P113L|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_Missense_Mutation_p.P113L|GLYCTK_ENST00000305690.8_Missense_Mutation_p.P113L NM_001144951.1 NP_001138423.1 Q8IVS8 GLCTK_HUMAN glycerate kinase 113 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) ATCAGCGTTCCCAAGGGGATC 0.612000 14 40 0 0 1 0 0 CLEC4F 165530 broad.mit.edu 37 2 71046974 71046974 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:71046974G>A ENST00000272367.2 - 2 187 c.111C>T c.(109-111)ctC>ctT p.L37L CLEC4F_ENST00000426626.1_Silent_p.L37L NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 37 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 TAGCCTGAACGAGCCTCGGTA 0.557000 14 68 0 0 1 0 0 ITGB3 3690 broad.mit.edu 37 17 45369764 45369764 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:45369764C>T ENST00000559488.1 + 10 1536 c.1520C>T c.(1519-1521)tCc>tTc p.S507F ITGB3_ENST00000435993.2_Missense_Mutation_p.S460F|ITGB3_ENST00000560629.1_Silent_p.F495F NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 507 Cysteine-rich tandem repeats. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) TATCGCCCTTCCCAGCAGGAC 0.622000 32 75 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719540 140719540 + Silent SNP C C T rs149528645 TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:140719540C>T ENST00000394576.2 + 1 1002 c.1002C>T c.(1000-1002)atC>atT p.I334I PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAAGGTTATCGTCACGGTTC 0.428000 57 151 0 0 1 0 0 ZNF223 7766 broad.mit.edu 37 19 44571352 44571352 + Missense_Mutation SNP A A T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:44571352A>T ENST00000591793.1 + 7 1784 c.1701A>T c.(1699-1701)aaA>aaT p.K567N ZNF223_ENST00000434772.3_Missense_Mutation_p.K457N Q9UK11 ZN223_HUMAN zinc finger protein 223 457 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) ATCCATCCAAATGTGAAGACT 0.363000 32 64 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137206693 137206693 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:137206693G>A ENST00000453654.1 - 21 1806 c.1267C>T c.(1267-1269)Cgt>Tgt p.R423C DGKI_ENST00000424189.2_Missense_Mutation_p.R744C|DGKI_ENST00000288490.5_Missense_Mutation_p.R723C|DGKI_ENST00000446122.1_Missense_Mutation_p.R723C O75912 DGKI_HUMAN diacylglycerol kinase, iota 723 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 ATCCTCAGACGATCTGGGACA 0.463000 6 27 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31552617 31552617 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:31552617G>A ENST00000389082.5 - 16 3303 c.3039C>T c.(3037-3039)gtC>gtT p.V1013V DENND5B_ENST00000306833.6_Silent_p.V1048V|DENND5B_ENST00000536562.1_Silent_p.V1048V NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1013 PLAT. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 TTTCATTTCTGACCATGACAC 0.418000 7 31 0 0 1 0 0 ABCC10 89845 broad.mit.edu 37 6 43414039 43414039 + Silent SNP C C A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:43414039C>A ENST00000244533.3 + 14 3674 c.3315C>A c.(3313-3315)ctC>ctA p.L1105L ABCC10_ENST00000372530.4_Silent_p.L1133L NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 1133 ABC transmembrane type-1 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) ACCTGCGACTCCTTGAGCTAA 0.597000 33 91 4.3181e-19 4.4098e-19 1 1 0 GABRG3 2567 broad.mit.edu 37 15 27778022 27778022 + Missense_Mutation SNP C C A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:27778022C>A ENST00000333743.6 + 10 1653 c.1399C>A c.(1399-1401)Ctc>Atc p.L467I RP11-100M12.3_ENST00000556642.1_RNA NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 467 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) ATACCTGTATCTCTAAGTGTT 0.493000 13 29 6.72482e-11 6.815e-11 1 1 0 ESRRA 2101 broad.mit.edu 37 11 64083425 64083425 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:64083425C>T ENST00000405666.1 + 7 1493 c.1259C>T c.(1258-1260)gCc>gTc p.A420V ESRRA_ENST00000000442.6_Missense_Mutation_p.A420V|ESRRA_ENST00000406310.1_Missense_Mutation_p.A419V P11474 ERR1_HUMAN estrogen-related receptor alpha 420 AF-2 domain. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(8) 14 ATGCTCGAGGCCATGATGGAC 0.642000 12 50 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61946647 61946647 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:61946647G>A ENST00000280772.1 - 17 2102 c.1911C>T c.(1909-1911)atC>atT p.I637I ANK3_ENST00000373827.2_Silent_p.I631I|ANK3_ENST00000503366.1_Silent_p.I620I NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 637 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTTTGGCAGCGATGTGCAGTG 0.458000 27 80 0 0 1 0 0 NPR2 4882 broad.mit.edu 37 9 35802771 35802771 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr9:35802771C>T ENST00000342694.2 + 12 2113 c.1858C>T c.(1858-1860)Cgt>Tgt p.R620C NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 620 Protein kinase. intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity p.R620C(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) CTGGATGTTTCGTTATTCACT 0.408000 38 44 0 0 1 0 0 LYPD5 284348 broad.mit.edu 37 19 44301849 44301849 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:44301849G>A ENST00000377950.3 - 5 730 c.650C>T c.(649-651)tCc>tTc p.S217F LYPD5_ENST00000414615.2_Missense_Mutation_p.S174F|LYPD5_ENST00000594013.1_Missense_Mutation_p.S174F NM_001031749.2 NP_001026919.2 Q6UWN5 LYPD5_HUMAN LY6/PLAUR domain containing 5 217 anchored to membrane|plasma membrane breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 8 Prostate(69;0.0352) CTGGGTCATGGATTTCCTGTT 0.662000 22 58 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 192997197 192997197 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:192997197G>A ENST00000342358.4 - 28 3390 c.3273C>T c.(3271-3273)ttC>ttT p.F1091F ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 1091 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) AAAACAGAATGAAAATTGTGA 0.348000 16 38 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33477071 33477071 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:33477071C>T ENST00000268876.5 + 4 307 c.210C>T c.(208-210)atC>atT p.I70I UNC45B_ENST00000591048.1_Silent_p.I70I|UNC45B_ENST00000394570.2_Silent_p.I70I|UNC45B_ENST00000378449.1_Silent_p.I70I|UNC45B_ENST00000433649.1_Silent_p.I70I NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 70 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) CGATAGCCATCGACATCAACT 0.597000 14 41 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100417334 100417334 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:100417334G>A ENST00000358173.3 - 6 1610 c.1142C>T c.(1141-1143)cCc>cTc p.P381L EPHB4_ENST00000360620.3_Missense_Mutation_p.P381L|EPHB4_ENST00000477446.1_5'UTR NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 381 Fibronectin type-III 1. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) CCGGGGGCCGGGGTCAAAAGT 0.662000 10 29 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37623548 37623548 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:37623548C>T ENST00000434837.2 - 4 1685 c.507G>A c.(505-507)tgG>tgA p.W169* MDGA1_ENST00000505425.1_Nonsense_Mutation_p.W169*|MDGA1_ENST00000297153.7_Nonsense_Mutation_p.W169* NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 169 Ig-like 2. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 AACCCCGCTTCCAGATGAAGC 0.592000 6 22 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70488850 70488850 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:70488850G>A ENST00000310961.5 + 18 1906 c.1488G>A c.(1486-1488)ggG>ggA p.G496G RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Silent_p.G491G Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 491 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GCCAGCGTGGGATTACTCTCC 0.557000 28 45 0 0 1 0 0 CDC40 51362 broad.mit.edu 37 6 110550068 110550068 + Missense_Mutation SNP A A G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:110550068A>G ENST00000368932.1 + 15 1552 c.1451A>G c.(1450-1452)cAa>cGa p.Q484R CDC40_ENST00000368933.1_Missense_Mutation_p.Q484R|CDC40_ENST00000307731.1_Missense_Mutation_p.Q484R|CDC40_ENST00000368930.1_Missense_Mutation_p.Q484R|CDC40_ENST00000445340.2_Intron O60508 PRP17_HUMAN cell division cycle 40 484 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) ATGGACAACCAAATCTTAATT 0.303000 8 26 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38154822 38154822 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr13:38154822C>T ENST00000379747.4 - 11 1522 c.1405G>A c.(1405-1407)Gaa>Aaa p.E469K POSTN_ENST00000541481.1_Missense_Mutation_p.E469K|POSTN_ENST00000379743.4_Missense_Mutation_p.E469K|POSTN_ENST00000541179.1_Missense_Mutation_p.E469K|POSTN_ENST00000379742.4_Missense_Mutation_p.E469K|POSTN_ENST00000379749.4_Missense_Mutation_p.E469K NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 469 FAS1 3. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CATGAATTTTCAATGCAGACA 0.423000 63 150 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58256196 58256196 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:58256196G>A ENST00000249750.4 - 9 1740 c.973C>T c.(973-975)Cgc>Tgc p.R325C ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R229C|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R304C|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R287C|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R296C NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 325 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) ACGAAGATGCGAGAGCCTGCA 0.562000 33 69 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2229562 2229562 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:2229562C>T ENST00000399655.1 + 3 708 c.443C>T c.(442-444)cCa>cTa p.P148L CACNA1C_ENST00000399603.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.P148L|CACNA1C_ENST00000399591.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000344100.3_Missense_Mutation_p.P148L|CACNA1C_ENST00000335762.5_Missense_Mutation_p.P148L|CACNA1C_ENST00000399601.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000406454.3_Missense_Mutation_p.P148L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000347598.4_Missense_Mutation_p.P148L|CACNA1C_ENST00000399629.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000480911.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000327702.7_Missense_Mutation_p.P148L|CACNA1C_ENST00000399634.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000399638.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000399621.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000399606.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000399595.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000399649.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000399617.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000399644.1_Missense_Mutation_p.P148L NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 148 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) ATTCCCTTTCCAGAAGATGAT 0.413000 40 104 0 0 1 0 0 SMG6 23293 broad.mit.edu 37 17 1968969 1968969 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:1968969G>A ENST00000544865.1 - 17 4257 c.3747C>T c.(3745-3747)atC>atT p.I1249I SMG6_ENST00000263073.5_Silent_p.I1280I|SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000536871.2_Silent_p.I372I|SMG6_ENST00000354901.4_Silent_p.I372I Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 1280 PINc. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CCAGCTCATTGATCACTGATG 0.582000 10 25 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33881304 33881304 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:33881304G>A ENST00000504830.1 - 2 744 c.409C>T c.(409-411)Ccc>Tcc p.P137S ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P137S|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.P137S NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 137 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TGGCAGAGGGGGGCAGAGGAA 0.527000 HNSCC(64;0.19) 31 92 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 4 71 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55494709 55494709 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:55494709C>T ENST00000543010.1 + 6 1786 c.1643C>T c.(1642-1644)cCc>cTc p.P548L NLRP2_ENST00000339757.7_Missense_Mutation_p.P526L|NLRP2_ENST00000448584.2_Missense_Mutation_p.P548L|NLRP2_ENST00000538819.1_Missense_Mutation_p.P524L|NLRP2_ENST00000427260.2_Missense_Mutation_p.P525L|NLRP2_ENST00000263437.6_Missense_Mutation_p.P545L|NLRP2_ENST00000391721.4_Missense_Mutation_p.P524L|NLRP2_ENST00000537859.1_Missense_Mutation_p.P526L NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 548 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CTCAGGAACCCCGACCTGATC 0.567000 31 86 0 0 1 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010865 59010865 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:59010865G>A ENST00000263093.2 - 7 1770 c.1661C>T c.(1660-1662)aCc>aTc p.T554I SLC27A5_ENST00000601355.1_Missense_Mutation_p.T470I NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 554 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity p.T554I(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) GGACCGGAAGGTGTCCCCGAG 0.657000 12 42 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93563530 93563530 + Missense_Mutation SNP A A T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:93563530A>T ENST00000557381.1 + 38 5902 c.5195A>T c.(5194-5196)cAg>cTg p.Q1732L CHD2_ENST00000394196.4_Intron O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 0 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AACCTTTGCCAGGAGCTGTTT 0.458000 14 40 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111927207 111927207 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:111927207G>A ENST00000305815.5 - 16 2056 c.1804C>T c.(1804-1806)Cgt>Tgt p.R602C SLC9C1_ENST00000487372.1_Missense_Mutation_p.R554C NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 602 Ion transport-like. cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TGGCATATACGAAAAAAGAAG 0.269000 30 74 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55539605 55539605 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:55539605G>A ENST00000220676.1 + 4 3311 c.3163G>A c.(3163-3165)Gaa>Aaa p.E1055K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1055 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGTTTACCAGGAAATAAACCT 0.378000 34 95 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231379974 231379974 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:231379974C>T ENST00000264052.5 + 25 2614 c.2259C>T c.(2257-2259)atC>atT p.I753I SP100_ENST00000340126.4_Intron NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 753 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AAACCTATATCCCTCCTAAAG 0.423000 41 70 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144945633 144945633 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:144945633C>T ENST00000525985.1 - 2 1860 c.1789G>A c.(1789-1791)Ggc>Agc p.G597S P58107 EPIPL_HUMAN epiplakin 1 597 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCCAGGCTGCCCACATCCTTG 0.642000 9 17 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23731084 23731084 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr9:23731084G>A ENST00000397312.2 - 3 543 c.269C>T c.(268-270)cCc>cTc p.P90L ELAVL2_ENST00000223951.6_Missense_Mutation_p.P90L|ELAVL2_ENST00000380110.4_Missense_Mutation_p.P119L|ELAVL2_ENST00000544538.1_Missense_Mutation_p.P90L|ELAVL2_ENST00000380117.1_Missense_Mutation_p.P90L NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 90 RRM 1. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TGCATCCTTGGGGTCAATGTA 0.373000 14 26 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55129947 55129947 + Missense_Mutation SNP T T G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:55129947T>G ENST00000257290.5 + 4 812 c.481T>G c.(481-483)Tta>Gta p.L161V PDGFRA_ENST00000508170.1_Missense_Mutation_p.L161V|FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 161 Ig-like C2-type 2. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TCCTGTAACCTTACACAACAG 0.498000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 26 101 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67049401 67049401 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:67049401G>A ENST00000315962.4 + 4 952 c.579G>A c.(577-579)ctG>ctA p.L193L TRIM55_ENST00000353317.5_Silent_p.L193L|TRIM55_ENST00000350034.4_Silent_p.L193L|TRIM55_ENST00000276573.7_Silent_p.L193L NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 193 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) TCAGCCAGCTGGAAGACACCT 0.522000 19 51 0 0 1 0 0 OR3A3 8392 broad.mit.edu 37 17 3324774 3324774 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:3324774G>A ENST00000291231.1 + 1 913 c.913G>A c.(913-915)Gat>Aat p.D305N NM_012373.2 NP_036505.2 P47888 OR3A3_HUMAN olfactory receptor, family 3, subfamily A, member 3 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1) 9 CAGAAATACTGATGTTCAGGG 0.502000 27 89 0 0 1 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010864 59010864 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:59010864G>A ENST00000263093.2 - 7 1771 c.1662C>T c.(1660-1662)acC>acT p.T554T SLC27A5_ENST00000601355.1_Silent_p.T470T NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 554 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity p.T554I(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) CGGACCGGAAGGTGTCCCCGA 0.657000 12 40 0 0 1 0 0 OR2A5 393046 broad.mit.edu 37 7 143747855 143747855 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:143747855G>A ENST00000408906.2 + 1 395 c.361G>A c.(361-363)Gat>Aat p.D121N NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) GATGTCCTACGATCGGTACAT 0.468000 85 208 0 0 1 0 0 RHBDD1 84236 broad.mit.edu 37 2 227729501 227729501 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:227729501C>T ENST00000392062.2 + 4 616 c.92C>T c.(91-93)aCc>aTc p.T31I RHBDD1_ENST00000341329.3_Missense_Mutation_p.T31I NM_001167608.1 NP_001161080.1 Q8TEB9 RHBD1_HUMAN rhomboid domain containing 1 31 integral to membrane serine-type endopeptidase activity breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175) CCACCTGTCACCCTAGCAACT 0.448000 49 138 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7218091 7218091 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:7218091G>A ENST00000361972.4 - 17 1935 c.1845C>T c.(1843-1845)atC>atT p.I615I SFMBT2_ENST00000397167.1_Silent_p.I615I NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 615 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 ATGTCCGTACGATTTTGACCA 0.453000 31 81 0 0 1 0 0 OR10R2 343406 broad.mit.edu 37 1 158450470 158450470 + Missense_Mutation SNP T T G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:158450470T>G ENST00000368152.1 + 1 803 c.803T>G c.(802-804)gTt>gGt p.V268G RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) CTCAGTGTTGTTATTGTTCAT 0.483000 21 71 0 0 1 0 0 TADA2A 6871 broad.mit.edu 37 17 35797857 35797857 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:35797857C>T ENST00000394395.2 + 5 384 c.211C>T c.(211-213)Ctt>Ttt p.L71F TADA2A_ENST00000225396.6_Missense_Mutation_p.L71F|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000417170.1_Missense_Mutation_p.L71F|TADA2A_ENST00000586023.1_Missense_Mutation_p.L71F NM_001166105.1 NP_001159577.1 O75478 TAD2A_HUMAN transcriptional adaptor 2A 71 SANT. histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1) 13 TTTTCCTGTCCTTGATCCCAG 0.458000 28 66 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139153476 139153476 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:139153476C>T ENST00000395297.1 - 17 3925 c.3755G>A c.(3754-3756)gGa>gAa p.G1252E NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1252 p.G1252V(2)|p.G1252E(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTACAGGGTTCCCAGGTGAGG 0.537000 HNSCC(54;0.14) 18 49 0 0 1 0 0 PANX3 116337 broad.mit.edu 37 11 124489198 124489198 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:124489198G>A ENST00000284288.2 + 4 613 c.546G>A c.(544-546)cgG>cgA p.R182R NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 182 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) CCAGGGCTCGGAAAGAACGAT 0.478000 20 63 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533336 533336 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:533336G>A ENST00000417302.1 - 5 660 c.473C>T c.(472-474)tCc>tTc p.S158F HRAS_ENST00000397594.1_Missense_Mutation_p.S158F|HRAS_ENST00000451590.1_Intron|HRAS_ENST00000311189.7_Intron|HRAS_ENST00000397596.2_Intron NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 0 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) CCCGGAGCTGGAGCTAGAGCC 0.726000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 11 34 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163693142 163693142 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:163693142C>T ENST00000332142.5 - 2 311 c.212G>A c.(211-213)gGa>gAa p.G71E KCNH7_ENST00000328032.4_Missense_Mutation_p.G71E NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 71 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) GGTCTCGGGTCCATGGAGAAA 0.483000 11 27 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138394392 138394392 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:138394392G>A ENST00000310018.2 - 21 2688 c.2406C>T c.(2404-2406)ttC>ttT p.F802F ATP6V0A4_ENST00000353492.4_Silent_p.F802F|ATP6V0A4_ENST00000393054.1_Silent_p.F802F NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 802 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GGGCGTGCAGGAAAGCAGAGA 0.567000 54 180 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50835719 50835719 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:50835719G>A ENST00000395562.2 + 8 1222 c.753G>A c.(751-753)ttG>ttA p.L251L CHAT_ENST00000455728.2_Silent_p.L215L|CHAT_ENST00000395559.2_Silent_p.L215L|CHAT_ENST00000339797.1_Silent_p.L215L|CHAT_ENST00000337653.2_Silent_p.L333L|CHAT_ENST00000351556.3_Silent_p.L215L NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 333 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TCACTCAGTTGAGAAAGATAG 0.522000 52 137 0 0 1 0 0 LEFTY1 10637 broad.mit.edu 37 1 226075716 226075716 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:226075716G>A ENST00000432920.2 - 6 759 c.592C>T c.(592-594)Cct>Tct p.P198S LEFTY1_ENST00000272134.5_Silent_p.F89F|LEFTY1_ENST00000492457.1_5'UTR CCAACGCCAGGAACCTGCCGG 0.692000 4 14 0 0 1 0 0 ZACN 353174 broad.mit.edu 37 17 74077385 74077385 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:74077385G>A ENST00000334586.5 + 6 654 c.571G>A c.(571-573)Gtg>Atg p.V191M EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 191 response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 CCAGGCCCACGTGGTGAACGA 0.552000 57 127 0 0 1 0 0 AQP12B 653437 broad.mit.edu 37 2 241622144 241622144 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:241622144G>A ENST00000407834.3 - 1 173 c.111C>T c.(109-111)ttC>ttT p.F37F NM_001102467.1 NP_001095937.1 A6NM10 AQ12B_HUMAN aquaporin 12B 37 integral to membrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1) 13 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) CCTCCCGGGCGAAGACTTCAT 0.672000 17 100 0 0 1 0 0 ZNF599 148103 broad.mit.edu 37 19 35250778 35250778 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:35250778G>A ENST00000329285.7 - 4 1301 c.928C>T c.(928-930)Ccc>Tcc p.P310S NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) CATAAAAAGGGTTTTTCTCGA 0.418000 33 113 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152057629 152057629 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:152057629G>A ENST00000368806.1 - 3 2593 c.2529C>T c.(2527-2529)atC>atT p.I843I NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 843 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) AACAATCTGAGATCTCACTGG 0.483000 42 112 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160953678 160953678 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:160953678G>A ENST00000447678.1 - 39 5966 c.5846C>T c.(5845-5847)aCc>aTc p.T1949I LPA_ENST00000316300.5_Missense_Mutation_p.T1949I|LPA_ENST00000484276.1_Intron NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4457 Kringle 17. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) AGTCCCAAAGGTACCTGTGTT 0.453000 11 46 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141731573 141731573 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:141731573G>A ENST00000475668.2 + 13 1618 c.1564G>A c.(1564-1566)Gag>Aag p.E522K MGAM_ENST00000549489.2_Missense_Mutation_p.E522K O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 522 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CAATCAAGTAGAGTTTGATGG 0.383000 23 71 0 0 1 0 0 METTL4 64863 broad.mit.edu 37 18 2566951 2566951 + Silent SNP G G T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr18:2566951G>T ENST00000319888.6 - 2 1063 c.265C>A c.(265-267)Cga>Aga p.R89R METTL4_ENST00000574538.1_Silent_p.R89R Q8N3J2 METL4_HUMAN methyltransferase like 4 89 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 AGTTCAGGTCGAAAAACAAAT 0.378000 26 74 9.80776e-20 1.00257e-19 1 1 0 ERN2 10595 broad.mit.edu 37 16 23713503 23713503 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:23713503C>T ENST00000256797.4 - 11 1485 c.1317G>A c.(1315-1317)gaG>gaA p.E439E ERN2_ENST00000457008.2_Silent_p.E391E NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 391 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CCTGGGTATTCTCTGGAGGTC 0.617000 44 79 0 0 1 0 0 CDRT1 374286 broad.mit.edu 37 17 15516110 15516110 + Missense_Mutation SNP T T C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:15516110T>C ENST00000455584.2 - 11 2000 c.1957A>G c.(1957-1959)Aat>Gat p.N653D CDRT1_ENST00000395906.3_Missense_Mutation_p.N343D TTGGCATAATTAGGATCAATT 0.418000 42 82 0 0 1 0 0 SPRR2E 6704 broad.mit.edu 37 1 153066218 153066218 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:153066218G>A ENST00000368751.1 - 2 84 c.10C>T c.(10-12)Caa>Taa p.Q4* SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Nonsense_Mutation_p.Q4* P22531 SPR2E_HUMAN small proline-rich protein 2E 4 keratinization cornified envelope|cytoplasm protein binding|structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGCTGCTGTTGATAAGACATC 0.542000 36 70 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47046714 47046714 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:47046714C>T ENST00000450053.3 + 40 6642 c.6463C>T c.(6463-6465)Cac>Tac p.H2155Y NBEAL2_ENST00000383740.2_Missense_Mutation_p.H434Y|NBEAL2_ENST00000292309.5_Missense_Mutation_p.H1971Y NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 2155 BEACH. binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) TGACAAGTTCCACTATGGCAC 0.602000 16 49 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144835047 144835047 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:144835047C>T ENST00000367545.3 + 35 4947 c.4947C>T c.(4945-4947)aaC>aaT p.N1649N NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1649 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CTTTGTAGAACCATCAGAACC 0.323000 21 54 0 0 1 0 0 TSPAN12 23554 broad.mit.edu 37 7 120446608 120446608 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:120446608G>A ENST00000222747.3 - 7 1214 c.607C>T c.(607-609)Caa>Taa p.Q203* TSPAN12_ENST00000415871.1_Nonsense_Mutation_p.Q203* NM_012338.3 NP_036470.1 O95859 TSN12_HUMAN tetraspanin 12 203 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) CTCACCTCTTGATAAAGGTCA 0.398000 14 34 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814238 137814238 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:137814238G>A ENST00000409968.1 + 3 566 c.388G>A c.(388-390)Gag>Aag p.E130K THSD7B_ENST00000272643.3_Missense_Mutation_p.E130K|THSD7B_ENST00000413152.2_Missense_Mutation_p.E99K thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TCGGACTGCAGAGTGTGTGAC 0.537000 29 79 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248436215 248436215 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:248436215C>T ENST00000318021.2 - 1 923 c.902G>A c.(901-903)cGg>cAg p.R301Q NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCCCAGCCACCGTTTCAGGGC 0.438000 136 159 0 0 1 0 0 KDM7A 80853 broad.mit.edu 37 7 139824491 139824491 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:139824491G>A ENST00000397560.2 - 7 1078 c.981C>T c.(979-981)ttC>ttT p.F327F JHDM1D_ENST00000006967.5_Silent_p.F327F NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 327 JmjC. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TATCTCCAAAGAACACCTCAC 0.393000 21 47 0 0 1 0 0 PPP1R14C 81706 broad.mit.edu 37 6 150569882 150569882 + Splice_Site SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:150569882G>A ENST00000361131.4 + 4 541 c.423_splice c.e4-1 p.E142_splice NM_030949.2 NP_112211.1 Q8TAE6 PP14C_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14C 142 regulation of phosphorylation cytoplasm|membrane endometrium(1)|large_intestine(1)|prostate(1) 3 Ovarian(120;0.0284) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;9.14e-12) TCTCTTTTAGGAATTTATCAA 0.383000 8 42 0 0 1 0 0 C15orf60 283677 broad.mit.edu 37 15 73832829 73832829 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:73832829G>A ENST00000331090.6 + 3 281 c.253G>A c.(253-255)Ggg>Agg p.G85R C15orf60_ENST00000560581.1_Intron NM_001042367.1 NP_001035826.1 Q7Z4M0 CO060_HUMAN chromosome 15 open reading frame 60 85 endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2) 17 GTTTCAGGAAGGGTTTTCACT 0.358000 66 188 0 0 1 0 0 OR1F2P 26184 broad.mit.edu 37 16 3266157 3266157 + RNA SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:3266157C>T ENST00000576468.1 + 0 418 TGTGACTCCCCTCCTGAAACT 0.532000 15 46 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57330038 57330038 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:57330038G>A ENST00000326441.9 - 8 1065 c.702C>T c.(700-702)ctC>ctT p.L234L ZIM2_ENST00000391708.3_Silent_p.L109L|PEG3_ENST00000593695.1_Silent_p.L108L|ZIM2_ENST00000593711.1_Silent_p.L109L|PEG3_ENST00000423103.2_Silent_p.L234L|PEG3_ENST00000598410.1_Silent_p.L109L|ZIM2_ENST00000601070.1_Silent_p.L109L|ZIM2_ENST00000599935.1_Silent_p.L109L|ZIM2_ENST00000221722.5_Silent_p.L109L NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 234 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGTCCTCAGCGAGGTCCACCA 0.478000 29 86 0 0 1 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58187680 58187680 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:58187680C>T ENST00000318203.5 + 3 864 c.167C>T c.(166-168)tCa>tTa p.S56L NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 56 SCAN box. telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGCAATAATTCATATGCAAGG 0.403000 28 92 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193220362 193220362 + Missense_Mutation SNP A A T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:193220362A>T ENST00000342695.4 - 3 623 c.301T>A c.(301-303)Ttt>Att p.F101I ATP13A4_ENST00000392443.3_Missense_Mutation_p.F101I|ATP13A4_ENST00000295548.3_Missense_Mutation_p.F101I NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 101 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GTGAGACCAAATGCGCTGTTT 0.403000 35 85 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55540286 55540286 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:55540286C>T ENST00000220676.1 + 4 3992 c.3844C>T c.(3844-3846)Cct>Tct p.P1282S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1282 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CACTTTTTTTCCTAGTGATGG 0.408000 79 145 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32241212 32241212 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr22:32241212C>T ENST00000400246.1 + 30 3152 c.3010C>T c.(3010-3012)Cgc>Tgc p.R1004C DEPDC5_ENST00000382112.3_Missense_Mutation_p.R995C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R926C|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R1004C|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R1004C|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R995C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R995C|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R926C O75140 DEPD5_HUMAN DEP domain containing 5 995 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TCGCTCGGATCGCATGATGCG 0.602000 7 24 0 0 1 0 0 OR6C4 341418 broad.mit.edu 37 12 55945062 55945062 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:55945062C>T ENST00000394256.2 + 1 80 c.52C>T c.(52-54)Caa>Taa p.Q18* RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 CCTTACAAATCAACCTGAACT 0.388000 46 131 0 0 1 0 0 PAX4 5078 broad.mit.edu 37 7 127253124 127253124 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:127253124C>T ENST00000341640.2 - 6 848 c.643G>A c.(643-645)Gcc>Acc p.A215T PAX4_ENST00000463946.1_Missense_Mutation_p.A213T|PAX4_ENST00000338516.3_Missense_Mutation_p.A223T|PAX4_ENST00000378740.2_Missense_Mutation_p.A215T NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 223 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 CGCCATTTGGCTCTTCTGTTG 0.527000 14 54 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142445269 142445269 + RNA SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:142445269C>T ENST00000606664.1 + 0 625 MROH5_ENST00000430863.1_RNA GGCCCCTCTCCCAGGCCAGCG 0.677000 7 20 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35873639 35873639 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:35873639G>A ENST00000303115.3 + 5 724 c.595G>A c.(595-597)Gca>Aca p.A199T IL7R_ENST00000343305.4_Missense_Mutation_p.A199T|IL7R_ENST00000506850.1_Missense_Mutation_p.A199T NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 199 Fibronectin type-III. immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CCAACCGGCAGCAATGTATGA 0.423000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 22 54 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24254940 24254940 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:24254940C>T ENST00000538205.1 + 7 908 c.361C>T c.(361-363)Cga>Tga p.R121* ADAMDEC1_ENST00000256412.4_Nonsense_Mutation_p.R200*|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Nonsense_Mutation_p.R121*|RP11-624C23.1_ENST00000523578.1_RNA NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 200 M -> T (in dbSNP:rs7007084). integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) AGGCCCAATTCGAATCTCTAG 0.433000 69 145 0 0 1 0 0 FCGRT 2217 broad.mit.edu 37 19 50027944 50027944 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:50027944C>T ENST00000221466.5 + 5 1268 c.782C>T c.(781-783)tCg>tTg p.S261L FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000426395.3_Missense_Mutation_p.S261L|FCGRT_ENST00000596975.1_Missense_Mutation_p.S169L NM_001136019.2 NP_001129491.1 P55899 FCGRN_HUMAN Fc fragment of IgG, receptor, transporter, alpha 261 Alpha-3. antigen processing and presentation|female pregnancy|immune response integral to membrane|MHC class I protein complex IgG binding|receptor activity endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 9 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) CACGCCTCGTCGTCACTAACA 0.652000 13 49 0 0 1 0 0 NOX5 79400 broad.mit.edu 37 15 69320665 69320665 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:69320665G>A ENST00000260364.5 + 4 532 c.231G>A c.(229-231)atG>atA p.M77I RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000530406.2_Missense_Mutation_p.M95I|NOX5_ENST00000448182.3_Missense_Mutation_p.M77I|NOX5_ENST00000388866.3_Missense_Mutation_p.M95I|NOX5_ENST00000455873.3_Missense_Mutation_p.M88I Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 95 EF-hand 2.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 GCAGCCCCATGGACAAACTCA 0.557000 39 100 0 0 1 0 0 LILRB4 11006 broad.mit.edu 37 19 55179361 55179361 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:55179361C>T ENST00000391736.1 + 14 1553 c.1238C>T c.(1237-1239)gCc>gTc p.A413V LILRB4_ENST00000391734.3_Missense_Mutation_p.A360V|LILRB4_ENST00000270452.2_Missense_Mutation_p.A413V|LILRB4_ENST00000430952.2_Missense_Mutation_p.A412V|LILRB4_ENST00000391733.3_Missense_Mutation_p.A414V NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 413 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GTGACCTACGCCCAGCTGCAC 0.652000 33 80 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154320906 154320906 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:154320906C>T ENST00000368489.3 + 27 3285 c.3285C>T c.(3283-3285)gcC>gcT p.A1095A NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 1081 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ACACCTTGGCCCAGCCCACGG 0.587000 14 32 0 0 1 0 0 SRPX2 27286 broad.mit.edu 37 X 99917271 99917271 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:99917271G>A ENST00000373004.3 + 4 690 c.262G>A c.(262-264)Gag>Aag p.E88K NM_014467.2 NP_055282.1 O60687 SRPX2_HUMAN sushi-repeat containing protein, X-linked 2 88 Sushi 1. angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1) 19 CACGCGTTGTGAGCTCTCCTG 0.537000 63 60 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61847958 61847958 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:61847958G>A ENST00000280772.1 - 29 3678 c.3487C>T c.(3487-3489)Caa>Taa p.Q1163* ANK3_ENST00000373827.2_Nonsense_Mutation_p.Q1157*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.Q1164*|ANK3_ENST00000355288.2_Nonsense_Mutation_p.Q297* NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1163 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AAAGATGCTTGAACAAGGGGC 0.488000 31 88 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127640772 127640772 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:127640772G>A ENST00000508053.1 - 51 6651 c.5677C>T c.(5677-5679)Cgc>Tgc p.R1893C FBN2_ENST00000262464.4_Missense_Mutation_p.R1893C P35556 FBN2_HUMAN fibrillin 2 1893 EGF-like 31; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.R1893C(1) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CATTCATTGCGATCTAAAACA 0.323000 9 19 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179594547 179594547 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:179594547C>T ENST00000589042.1 - 63 18657 c.18433G>A c.(18433-18435)Gaa>Aaa p.E6145K TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4901K|TTN_ENST00000591111.1_Missense_Mutation_p.E5828K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5828 Ig-like 42. 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) GCTGTTATTTCATTCCCGTCT 0.428000 26 68 0 0 1 0 0 CD6 923 broad.mit.edu 37 11 60781435 60781435 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:60781435C>T ENST00000313421.7 + 8 1522 c.1336C>T c.(1336-1338)Ccg>Tcg p.P446S CD6_ENST00000346437.4_Intron|CD6_ENST00000545105.1_3'UTR|CD6_ENST00000344028.5_Intron|CD6_ENST00000452451.2_Missense_Mutation_p.P446S|CD6_ENST00000352009.5_Intron NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 446 cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 CACCACCATCCCGGCAGGGAG 0.572000 10 35 0 0 1 0 0 PREP 5550 broad.mit.edu 37 6 105816884 105816884 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:105816884G>A ENST00000369110.3 - 6 803 c.611C>T c.(610-612)aCc>aTc p.T204I NM_002726.4 NP_002717.3 P48147 PPCE_HUMAN prolyl endopeptidase 204 proteolysis serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) GTGGAGATTGGTAGATGTCTC 0.393000 36 75 0 0 1 0 0 UBR1 197131 broad.mit.edu 37 15 43269007 43269007 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:43269007G>A ENST00000290650.4 - 39 4355 c.4277C>T c.(4276-4278)cCt>cTt p.P1426L UBR1_ENST00000382177.2_3'UTR NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 1426 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) AACTGAAGAAGGCTGCAGATC 0.413000 16 41 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28576937 28576937 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr18:28576937C>T ENST00000434452.1 - 15 2467 c.2313G>A c.(2311-2313)atG>atA p.M771I DSC3_ENST00000360428.4_Missense_Mutation_p.M771I NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 771 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) CTCCATTTTTCATTCCTGATC 0.443000 17 46 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21348405 21348405 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr22:21348405G>A ENST00000215739.8 + 14 1821 c.1462G>A c.(1462-1464)Gag>Aag p.E488K LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.E469K NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 488 BTB 1. anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GCTGGAGCAGGAGGCCGCCCC 0.726000 3 11 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39646194 39646194 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:39646194C>T ENST00000265708.4 - 8 739 c.636G>A c.(634-636)acG>acA p.T212T ADAM2_ENST00000347580.4_Silent_p.T193T|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Silent_p.T212T NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 212 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TTACAGCATTCGTCAATCCAA 0.318000 12 35 0 0 1 0 0 OR51B5 282763 broad.mit.edu 37 11 5364133 5364133 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:5364133C>T ENST00000300773.2 - 1 676 c.622G>A c.(622-624)Gat>Aat p.D208N HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCAGATAATCCAGCACAAAT 0.468000 28 87 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10261117 10261117 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:10261117C>T ENST00000418404.3 - 7 836 c.673G>A c.(673-675)Gcc>Acc p.A225T MYH13_ENST00000252172.4_Missense_Mutation_p.A225T|MYH13_ENST00000570743.1_Missense_Mutation_p.A225T Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 225 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 AGTGGGTTGGCCTGGATGATC 0.443000 31 72 0 0 1 0 0 MAS1 4142 broad.mit.edu 37 6 160327991 160327991 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:160327991G>A ENST00000252660.4 + 1 18 c.4G>A c.(4-6)Gat>Aat p.D2N NM_002377.2 NP_002368.1 P04201 MAS_HUMAN MAS1 oncogene 2 anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) CCTCCTCATGGATGGGTCAAA 0.438000 22 64 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193158409 193158409 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:193158409G>A ENST00000342695.4 - 21 2779 c.2457C>T c.(2455-2457)acC>acT p.T819T ATP13A4_ENST00000392443.3_Silent_p.T800T NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 819 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TTGCAAAGATGGTCCCATTGA 0.408000 19 35 0 0 1 0 0 FPR2 2358 broad.mit.edu 37 19 52272868 52272868 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:52272868C>T ENST00000598776.1 + 2 1729 c.957C>T c.(955-957)acC>acT p.T319T FPR2_ENST00000340023.6_Silent_p.T319T|FPR2_ENST00000598953.1_Silent_p.T319T NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 319 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 CCCTGCCCACCAGTCTGGAGA 0.562000 36 84 0 0 1 0 0 HAUS8 93323 broad.mit.edu 37 19 17163670 17163670 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:17163670C>T ENST00000593360.1 - 9 2729 c.711G>A c.(709-711)aaG>aaA p.K237K HAUS8_ENST00000448593.2_Silent_p.K297K|CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000253669.5_Silent_p.K298K Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 298 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CCGTCACGTCCTTGAGTTCGC 0.527000 OREG0025339 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 123 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223177774 223177774 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:223177774C>T ENST00000284476.6 + 8 3199 c.3035C>T c.(3034-3036)gCc>gTc p.A1012V NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 1012 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) AGCCTTTATGCCATCATTTCA 0.488000 53 135 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138946166 138946166 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:138946166C>T ENST00000288561.8 + 6 1074 c.825C>T c.(823-825)ccC>ccT p.P275P UBN2_ENST00000473989.2_Silent_p.P358P NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 358 Lys-rich. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 TGAATAAACCCCCATGTGCTG 0.473000 30 74 0 0 1 0 0 TPP1 1200 broad.mit.edu 37 11 6638550 6638550 + Missense_Mutation SNP C C G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:6638550C>G ENST00000299427.6 - 5 550 c.490G>C c.(490-492)Gcc>Ccc p.A164P TPP1_ENST00000534644.1_5'UTR|TPP1_ENST00000533371.1_5'UTR NM_000391.3 NP_000382.3 O14773 TPP1_HUMAN tripeptidyl peptidase I 164 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) ACATGGGGGGCCAAGGCCTGT 0.577000 25 72 0 0 1 0 0 CHRM5 1133 broad.mit.edu 37 15 34356258 34356258 + Missense_Mutation SNP T T C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:34356258T>C ENST00000383263.5 + 3 2010 c.1340T>C c.(1339-1341)aTt>aCt p.I447T CHRM5_ENST00000557872.1_Missense_Mutation_p.I447T NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 447 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) CTGAGTGCCATTCTCCTGGCC 0.517000 43 78 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46244787 46244787 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:46244787C>T ENST00000334344.6 + 15 3053 c.2881C>T c.(2881-2883)Cag>Tag p.Q961* ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q812*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q571* NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 961 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCAGACAGTTCAGCTAACTGG 0.483000 """N, S, F""" hepatocellular carcinoma 40 147 0 0 1 0 0 SEMA4C 54910 broad.mit.edu 37 2 97532119 97532119 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:97532119G>A ENST00000305476.5 - 3 291 c.159C>T c.(157-159)ttC>ttT p.F53F NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 53 Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 TCAGTGTCAGGAAGTCCTGGA 0.657000 22 76 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152127833 152127833 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:152127833G>A ENST00000316073.3 - 3 1806 c.1742C>T c.(1741-1743)tCc>tTc p.S581F NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 581 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 AATATAGTGGGAACTCTGGCC 0.463000 176 460 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53185099 53185099 + Missense_Mutation SNP C C A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:53185099C>A ENST00000417996.2 - 7 1500 c.1426G>T c.(1426-1428)Gat>Tat p.D476Y KRT3_ENST00000309505.3_Missense_Mutation_p.D476Y NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 476 Coil 2.|Rod. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 GCCAGGTCATCCTTCGCCTGC 0.622000 44 80 4.16155e-14 4.24582e-14 1 1 0 IL5RA 3568 broad.mit.edu 37 3 3137042 3137042 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:3137042G>A ENST00000446632.2 - 8 1370 c.796C>T c.(796-798)Cca>Tca p.P266S IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000438560.1_Missense_Mutation_p.P266S|IL5RA_ENST00000383846.1_Missense_Mutation_p.P266S|IL5RA_ENST00000311981.8_Missense_Mutation_p.P266S|IL5RA_ENST00000256452.3_Missense_Mutation_p.P266S|IL5RA_ENST00000430514.2_Missense_Mutation_p.P266S|IL5RA_ENST00000456302.1_Missense_Mutation_p.P266S|IL5RA_ENST00000418488.2_Intron NM_175726.3 NP_783853.1 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha 266 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) CAATGGATTGGAAAAGCAGAC 0.353000 16 34 0 0 1 0 0 TIGIT 201633 broad.mit.edu 37 3 114014612 114014612 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:114014612C>T ENST00000481065.1 + 3 3098 c.483C>T c.(481-483)acC>acT p.T161T TIGIT_ENST00000486257.1_Silent_p.T94T|TIGIT_ENST00000383671.3_Silent_p.T94T Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 94 negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1) 17 TGGGCCTCACCCTCCAGTCGC 0.577000 19 65 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179594512 179594512 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:179594512G>A ENST00000589042.1 - 63 18692 c.18468C>T c.(18466-18468)ttC>ttT p.F6156F TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.F4912F|TTN_ENST00000591111.1_Silent_p.F5839F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5839 Ig-like 42. 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) AACCATCAATGAAGGAAATGC 0.448000 32 81 0 0 1 0 0 TNK2 10188 broad.mit.edu 37 3 195599264 195599264 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:195599264G>A ENST00000333602.6 - 10 1951 c.1334C>T c.(1333-1335)tCc>tTc p.S445F TNK2_ENST00000428187.1_Missense_Mutation_p.S477F|TNK2_ENST00000392400.1_Missense_Mutation_p.S445F|TNK2_ENST00000381916.2_Missense_Mutation_p.S508F|TNK2_ENST00000316664.3_Missense_Mutation_p.S445F NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 445 SH3. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GCCGGCCACGGAGGTCACCAC 0.667000 17 31 0 0 1 0 0 SVOP 55530 broad.mit.edu 37 12 109309580 109309580 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:109309580G>A ENST00000299134.5 - 13 1222 c.1223C>T c.(1222-1224)tCa>tTa p.S408L NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 ACGGAGTGATGAGAGCACCCA 0.612000 3 13 0 0 1 0 0 BRD9 65980 broad.mit.edu 37 5 876258 876258 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:876258G>A ENST00000323510.4 - 9 1052 c.1053C>T c.(1051-1053)atC>atT p.I351I BRD9_ENST00000467963.1_Silent_p.I447I|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000388890.4_Silent_p.I331I|BRD9_ENST00000483173.1_Silent_p.I394I Q9H8M2 BRD9_HUMAN bromodomain containing 9 447 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) CTCCGCCTGTGATCTGGTCCA 0.637000 16 35 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7640125 7640125 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:7640125C>T ENST00000359156.4 - 8 2082 c.1880G>A c.(1879-1881)gGa>gAa p.G627E CD163_ENST00000541972.1_Missense_Mutation_p.G615E|CD163_ENST00000432237.2_Missense_Mutation_p.G627E|CD163_ENST00000396620.3_Missense_Mutation_p.G660E NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 627 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AAGGGCAACTCCACATTTAAG 0.517000 43 108 0 0 1 0 0 ANLN 54443 broad.mit.edu 37 7 36450141 36450141 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:36450141C>T ENST00000265748.2 + 6 1336 c.1115C>T c.(1114-1116)cCt>cTt p.P372L ANLN_ENST00000396068.2_Missense_Mutation_p.P372L|ANLN_ENST00000495714.1_3'UTR NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 372 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 GGAATTAAGCCTTTCCTGGAA 0.383000 22 50 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24762771 24762771 + Silent SNP C C T rs143282203 byFrequency TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:24762771C>T ENST00000376451.2 + 2 875 c.615C>T c.(613-615)caC>caT p.H205H KIAA1217_ENST00000376452.3_Silent_p.H487H|KIAA1217_ENST00000307544.6_Silent_p.H205H|KIAA1217_ENST00000376462.1_Silent_p.H407H|KIAA1217_ENST00000430453.2_Silent_p.H408H|KIAA1217_ENST00000396446.1_Silent_p.H205H|KIAA1217_ENST00000396445.1_Silent_p.H205H|KIAA1217_ENST00000376454.3_Silent_p.H487H|KIAA1217_ENST00000458595.1_Silent_p.H487H Q5T5P2 SKT_HUMAN KIAA1217 487 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 TAGACATGCACGCTCACTATA 0.557000 5 117 0 0 1 0 0 SCPEP1 59342 broad.mit.edu 37 17 55072876 55072876 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:55072876C>T ENST00000262288.3 + 8 721 c.666C>T c.(664-666)ctC>ctT p.L222L NM_021626.2 NP_067639.1 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 222 proteolysis extracellular region serine-type carboxypeptidase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 14 Breast(9;2.86e-08) AGTCTCTTCTCGAAGACAAAG 0.502000 25 78 0 0 1 0 0 HTR7 3363 broad.mit.edu 37 10 92509065 92509065 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:92509065G>A ENST00000371721.3 - 2 1068 c.826C>T c.(826-828)Cct>Tct p.P276S HTR7_ENST00000336152.3_Missense_Mutation_p.P276S|HTR7_ENST00000277874.6_Missense_Mutation_p.P276S|HTR7_ENST00000371719.2_Missense_Mutation_p.P276S P34969 5HT7R_HUMAN 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 276 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) GGGAAGCCAGGAAACTTGTGT 0.512000 20 56 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 29041173 29041173 + Silent SNP G G C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr13:29041173G>C ENST00000282397.4 - 3 506 c.255C>G c.(253-255)ggC>ggG p.G85G FLT1_ENST00000541932.1_Silent_p.G85G|FLT1_ENST00000539099.1_Silent_p.G85G NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 85 Ig-like C2-type 1. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) AGAATTGTTTGCCATTTCTTC 0.443000 35 97 0 0 1 0 0 NPBWR1 2831 broad.mit.edu 37 8 53853379 53853379 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:53853379C>T ENST00000331251.3 + 1 2389 c.912C>T c.(910-912)ccC>ccT p.P304P NM_005285.3 NP_005276.2 P48145 NPBW1_HUMAN neuropeptides B/W receptor 1 304 synaptic transmission plasma membrane opioid receptor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2) 17 Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431) GCCTCAACCCCTTCCTCTACG 0.657000 15 38 0 0 1 0 0 CXorf66 347487 broad.mit.edu 37 X 139038760 139038760 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:139038760C>T ENST00000370540.1 - 3 404 c.381G>A c.(379-381)agG>agA p.R127R NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 127 Ser-rich. integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 GTGCGGATGCCCTTTCTGGAC 0.448000 81 110 0 0 1 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135920396 135920396 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:135920396C>T ENST00000264158.8 + 21 2508 c.2465C>T c.(2464-2466)cCc>cTc p.P822L RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.P778L|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.P822L|ZRANB3_ENST00000412849.1_Intron NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 822 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) TTGCACTTCCCCAATCCAGAA 0.338000 27 81 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55591294 55591294 + Splice_Site SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:55591294C>T ENST00000373965.2 - 31 4399 c.e31-1 PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000463095.1_Splice_Site|PCDH15_ENST00000409834.1_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000373957.3_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ATCCAAAAATCTTTATTGTTA 0.338000 HNSCC(58;0.16) 11 35 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17415849 17415849 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:17415849G>A ENST00000302539.4 - 37 4637 c.4512C>T c.(4510-4512)atC>atT p.I1504I ABCC8_ENST00000389817.3_Silent_p.I1503I NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1503 ABC transporter 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CCTCGTCCATGATGAAGATGC 0.587000 32 74 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71950406 71950406 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:71950406C>T ENST00000266674.5 + 6 963 c.652C>T c.(652-654)Cat>Tat p.H218Y LGR5_ENST00000540815.2_Missense_Mutation_p.H218Y|LGR5_ENST00000536515.1_Missense_Mutation_p.H146Y O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 218 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 CAGACATCTCCATAACAATAG 0.388000 26 87 0 0 1 0 0 CAT 847 broad.mit.edu 37 11 34475465 34475465 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:34475465C>T ENST00000241052.4 + 6 792 c.703C>T c.(703-705)Cat>Tat p.H235Y NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase 235 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) TTGCAAATTCCATTATAAGGT 0.443000 22 52 0 0 1 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228802 57228802 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:57228802C>T ENST00000396721.2 - 2 235 c.105G>A c.(103-105)cgG>cgA p.R35R SDR16C5_ENST00000522671.1_Silent_p.R35R|SDR16C5_ENST00000303749.3_Silent_p.R35R Q8N3Y7 RDHE2_HUMAN short chain dehydrogenase/reductase family 16C, member 5 35 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 CAACGTTCTTCCGTGGCTTTG 0.458000 30 98 0 0 1 0 0 SLC38A5 92745 broad.mit.edu 37 X 48318136 48318136 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:48318136C>T ENST00000376876.3 - 14 2038 c.1195G>A c.(1195-1197)Gat>Aat p.D399N SLC38A5_ENST00000317669.5_Missense_Mutation_p.D399N|SLC38A5_ENST00000376875.1_Missense_Mutation_p.D348N|SLC38A5_ENST00000480105.1_5'UTR Q8WUX1 S38A5_HUMAN solute carrier family 38, member 5 399 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 19 CCAAAGATATCCCGGATGGTT 0.517000 8 26 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119729076 119729076 + Splice_Site SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:119729076G>A ENST00000541757.1 + 5 572 c.190_splice c.e5-1 p.G64_splice MARCO_ENST00000327097.4_Splice_Site_p.G142_splice Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 142 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 CCCTTGCAGGGATGTTCAGAA 0.587000 35 72 0 0 1 0 0 CCDC67 159989 broad.mit.edu 37 11 93118658 93118658 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:93118658G>A ENST00000298050.3 + 8 984 c.884G>A c.(883-885)aGa>aAa p.R295K CCDC67_ENST00000525646.1_Missense_Mutation_p.R37K NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 295 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) CAATTACACAGAGAATTATTA 0.348000 9 33 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111138100 111138100 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr13:111138100C>T ENST00000360467.5 + 34 3430 c.3124C>T c.(3124-3126)Ccc>Tcc p.P1042S NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1042 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CATCGGAGTCCCCGGCATCCC 0.617000 28 52 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1592124 1592124 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:1592124G>A ENST00000279477.7 - 2 376 c.312C>T c.(310-312)tcC>tcT p.S104S SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000568365.1_Silent_p.S104S|SIRPB1_ENST00000381603.3_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 104 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 TGATGCGGATGGAAAAGTCCA 0.512000 33 52 0 0 1 0 0 MB21D2 151963 broad.mit.edu 37 3 192516963 192516963 + Missense_Mutation SNP G G A rs143060400 byFrequency TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:192516963G>A ENST00000392452.2 - 2 1008 c.688C>T c.(688-690)Cgc>Tgc p.R230C NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 230 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 TACAACATGCGACTACTCCCT 0.473000 22 67 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62462739 62462739 + Translation_Start_Site SNP T T G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:62462739T>G ENST00000430451.2 + 1 199 c.2T>G c.(1-3)aTg>aGg p.M1R SYT16_ENST00000446982.2_Start_Codon_SNP_p.M1R NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 1 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) TAGCTGGCCATGGTGTTGGCC 0.443000 10 35 0 0 1 0 0 C8orf31 286122 broad.mit.edu 37 8 144124457 144124457 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:144124457G>A ENST00000395172.1 + 2 391 c.39G>A c.(37-39)gtG>gtA p.V13V C8orf31_ENST00000517653.1_Intron NM_173687.2 NP_775958.1 Q8N9H6 CH031_HUMAN chromosome 8 open reading frame 31 13 breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1) 10 all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GCAATTCAGTGAGGCAGCTCT 0.602000 26 76 0 0 1 0 0 HS3ST2 9956 broad.mit.edu 37 16 22826270 22826270 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:22826270G>A ENST00000261374.3 + 1 773 c.339G>A c.(337-339)cgG>cgA p.R113R NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 113 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) GTACCAAGCGGTTGCCCCAAG 0.711000 10 10 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2139840 2139840 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:2139840C>T ENST00000262304.4 - 46 13008 c.12800G>A c.(12799-12801)cGg>cAg p.R4267Q PKD1_ENST00000423118.1_Missense_Mutation_p.R4266Q NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 4267 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CAGTGCTGGCCGCAGGCCCGG 0.726000 4 8 0 0 1 0 0 MKL2 57496 broad.mit.edu 37 16 14307405 14307405 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:14307405G>A ENST00000571589.1 + 6 452 c.280G>A c.(280-282)Gaa>Aaa p.E94K MKL2_ENST00000573051.1_Missense_Mutation_p.E43K|MKL2_ENST00000318282.5_Missense_Mutation_p.E94K|MKL2_ENST00000572567.1_Missense_Mutation_p.E83K|MKL2_ENST00000341243.5_Missense_Mutation_p.E83K|MKL2_ENST00000574045.1_Missense_Mutation_p.E94K NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 83 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TTTAAAGACTGAAAACTTTTT 0.294000 16 50 0 0 1 0 0 POTEG 404785 broad.mit.edu 37 14 19573100 19573100 + Splice_Site SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:19573100G>A ENST00000409832.3 + 8 1250 c.1197_splice c.e8-1 p.E400_splice NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 400 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 GCATCTGCAGGAAATGTCTCA 0.284000 8 163 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121758871 121758871 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:121758871G>A ENST00000261367.7 + 6 2008 c.580G>A c.(580-582)Gac>Aac p.D194N SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.D147N|SNCAIP_ENST00000379536.2_Missense_Mutation_p.D147N|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.D194N|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.D194N Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 147 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GGAGCACTACGACCTCGACAT 0.537000 31 85 0 0 1 0 0 TRBV7-7 28591 broad.mit.edu 37 7 142119937 142119937 + RNA SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:142119937G>A ENST00000390377.1 - 0 229 GGGCAGCCCTGATTTGTCTGG 0.532000 20 63 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31324664 31324664 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr18:31324664G>A ENST00000269197.5 + 12 4852 c.4852G>A c.(4852-4854)Gga>Aga p.G1618R NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1618 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GAGGAGCACAGGACAGCCTCT 0.443000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 15 0 0 1 0 0 PRRG3 79057 broad.mit.edu 37 X 150868628 150868628 + Splice_Site SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:150868628G>A ENST00000370353.3 + 3 558 c.168_splice c.e3+1 p.T56_splice PRRG3_ENST00000370354.1_Silent_p.T64T|PRRG3_ENST00000538575.1_Splice_Site_p.T56_splice Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) 56 Gla. extracellular region|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3) 24 Acute lymphoblastic leukemia(192;6.56e-05) AAGAGAAAACGGCATGTACCA 0.542000 26 32 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223991036 223991036 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:223991036G>A ENST00000391878.2 - 8 1149 c.381C>T c.(379-381)atC>atT p.I127I TP53BP2_ENST00000343537.7_Silent_p.I256I NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 250 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) GGTGGCTGTCGATCCTGCCGT 0.498000 36 88 0 0 1 0 0 NME6 10201 broad.mit.edu 37 3 48336288 48336288 + Missense_Mutation SNP C C A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:48336288C>A ENST00000421967.1 - 6 469 c.424G>T c.(424-426)Gtg>Ttg p.V142L NME6_ENST00000442597.1_Missense_Mutation_p.V134L|NME6_ENST00000426689.2_Missense_Mutation_p.V134L|NME6_ENST00000452211.1_Missense_Mutation_p.V134L|NME6_ENST00000415053.1_Missense_Mutation_p.V134L|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000451657.1_Silent_p.L120L|NME6_ENST00000447314.1_Missense_Mutation_p.V89L|NME6_ENST00000444069.1_5'UTR|NME6_ENST00000450160.1_Silent_p.L120L|NME6_ENST00000435684.1_Silent_p.L120L|NME6_ENST00000426723.1_Missense_Mutation_p.V67L|NME6_ENST00000415644.1_Missense_Mutation_p.V67L NM_005793.3 NP_005784.1 O75414 NDK6_HUMAN NME/NM23 nucleoside diphosphate kinase 6 134 anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process mitochondrion ATP binding|metal ion binding|nucleoside diphosphate kinase activity breast(1)|large_intestine(5) 6 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) GCTGAAACCACAGAGTCTGTA 0.527000 15 57 6.72482e-11 6.815e-11 1 1 0 MUC16 94025 broad.mit.edu 37 19 9060020 9060020 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:9060020G>A ENST00000397910.4 - 3 27629 c.27426C>T c.(27424-27426)agC>agT p.S9142S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9144 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 AAGAGGCAGAGCTGGCTTCTT 0.493000 14 73 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848865 73848865 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:73848865G>A ENST00000523207.1 + 3 1863 c.1275G>A c.(1273-1275)aaG>aaA p.K425K NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 425 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AGTTTTACAAGGAGCAGAAAC 0.438000 25 102 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179452321 179452321 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:179452321G>A ENST00000367618.3 + 18 2443 c.2056G>A c.(2056-2058)Gaa>Aaa p.E686K AL160286.1_ENST00000600581.1_Intron|AXDND1_ENST00000457238.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 686 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 GATAGGCAATGAAATTAACAA 0.353000 30 61 0 0 1 0 0 RRP1B 23076 broad.mit.edu 37 21 45107923 45107923 + Silent SNP G G A rs34580302 TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr21:45107923G>A ENST00000340648.4 + 13 1785 c.1668G>A c.(1666-1668)gaG>gaA p.E556E NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 556 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) GCCCCGCAGAGGGGGCGAACA 0.667000 22 32 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 96706813 96706813 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:96706813G>A ENST00000389672.5 + 3 1128 c.1090G>A c.(1090-1092)Gaa>Aaa p.E364K EPHA6_ENST00000542517.1_Missense_Mutation_p.E270K|EPHA6_ENST00000470610.2_Missense_Mutation_p.E364K NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 269 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TACAGGATATGAAGAAATTGA 0.343000 24 64 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654550 46654550 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr22:46654550G>A ENST00000253255.5 - 1 4669 c.4670C>T c.(4669-4671)tCc>tTc p.S1557F NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1557 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ATCCTTTTGGGAAGGGTGCTG 0.453000 59 139 0 0 1 0 0 SPANXD 64648 broad.mit.edu 37 X 140785745 140785745 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:140785745C>T ENST00000370515.3 - 2 504 c.171G>A c.(169-171)agG>agA p.R57R NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 SPANX family, member D breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) TTTTAAAGTTCCTCCTGTAGC 0.483000 93 154 0 0 1 0 0 OR10H5 284433 broad.mit.edu 37 19 15905602 15905602 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:15905602G>A ENST00000308940.8 + 1 842 c.744G>A c.(742-744)gtG>gtA p.V248V NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 ACCTCACTGTGGTGGTCGTGC 0.567000 30 78 0 0 1 0 0 WDR24 84219 broad.mit.edu 37 16 736958 736958 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:736958C>T ENST00000293883.4 - 3 1877 c.1118G>A c.(1117-1119)cGg>cAg p.R373Q WDR24_ENST00000248142.6_Missense_Mutation_p.R503Q NM_032259.2 NP_115635.1 Q96S15 WDR24_HUMAN WD repeat domain 24 503 breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3) 19 Hepatocellular(780;0.0218) GGGGTGGCGCCGGTCGCCAGT 0.682000 12 17 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126239578 126239578 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:126239578C>T ENST00000394329.3 + 1 2025 c.2012C>T c.(2011-2013)tCa>tTa p.S671L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 671 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCCCAGTCATCAATGGCTCGC 0.488000 25 87 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172501885 172501885 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:172501885C>T ENST00000367723.3 + 1 397 c.273C>T c.(271-273)ggC>ggT p.G91G NM_016227.2 NP_057311.2 SUN domain containing ossification factor TTCTGGAAGGCAAACTACAAC 0.537000 18 35 0 0 1 0 0 CDK5RAP3 80279 broad.mit.edu 37 17 46058647 46058647 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:46058647C>T ENST00000536708.2 + 13 1586 c.1477C>T c.(1477-1479)Ctg>Ttg p.L493L CDK5RAP3_ENST00000578663.1_3'UTR|RP11-6N17.10_ENST00000578239.1_RNA|CDK5RAP3_ENST00000338399.4_Silent_p.L468L NM_001278197.1 NP_001265126.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 468 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 GCAGGCGGCTCTGGAGCCTAA 0.572000 19 44 0 0 1 0 0 PTPN22 26191 broad.mit.edu 37 1 114397547 114397547 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:114397547G>A ENST00000359785.5 - 8 800 c.665C>T c.(664-666)cCc>cTc p.P222L PTPN22_ENST00000538253.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.P222L|PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.P222L|PTPN22_ENST00000460620.1_Intron NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051.3 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 222 Tyrosine-protein phosphatase. negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AATGCATATGGGAACACTGTC 0.418000 61 94 0 0 1 0 0 OR5V1 81696 broad.mit.edu 37 6 29323552 29323552 + Missense_Mutation SNP A A G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:29323552A>G ENST00000377154.1 - 4 720 c.421T>C c.(421-423)Tgc>Cgc p.C141R OR5V1_ENST00000543825.1_Missense_Mutation_p.C141R Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AATTGATTGCATAGAACCTTG 0.448000 21 88 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101490417 101490417 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:101490417C>T ENST00000392979.3 + 18 2098 c.1737C>T c.(1735-1737)ttC>ttT p.F579F ANO4_ENST00000550015.1_Silent_p.F134F|ANO4_ENST00000299222.9_Silent_p.F134F|ANO4_ENST00000392977.3_Silent_p.F614F NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 614 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TCGCATTCTTCCTCGGAAGGT 0.507000 HNSCC(74;0.22) 24 65 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8670162 8670162 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:8670162G>A ENST00000270328.4 - 3 436 c.170C>T c.(169-171)tCg>tTg p.S57L ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.S57L Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 57 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 AGGAGGTGGCGAGAAGGCCAG 0.662000 11 19 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13885216 13885216 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:13885216G>A ENST00000265104.4 - 19 2969 c.2865C>T c.(2863-2865)gcC>gcT p.A955A CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 955 Stem (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) GTAACTCGCGGGCTTCTTCCC 0.443000 Kartagener syndrome 28 73 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137688727 137688727 + Missense_Mutation SNP C C T rs141301771 TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr9:137688727C>T ENST00000371817.3 + 36 3292 c.2878C>T c.(2878-2880)Cct>Tct p.P960S NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 960 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.P960S(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CACAGGATTTCCTGGACCAAA 0.597000 16 42 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87362404 87362404 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:87362404C>T ENST00000327946.7 - 16 2741 c.2656G>A c.(2656-2658)Gaa>Aaa p.E886K GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.E457K NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 886 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GCAATGTCTTCATCCATGAGG 0.587000 Multiple Myeloma(13;0.14) 9 16 0 0 1 0 0 FOXR2 139628 broad.mit.edu 37 X 55650710 55650710 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:55650710C>T ENST00000339140.3 + 1 878 c.566C>T c.(565-567)tCc>tTc p.S189F NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 189 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex 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 biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 CAAGAGAAGTCCTGGCAAAGG 0.498000 32 41 0 0 1 0 0 IBTK 25998 broad.mit.edu 37 6 82937003 82937003 + Missense_Mutation SNP A A T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:82937003A>T ENST00000306270.7 - 5 1109 c.560T>A c.(559-561)tTt>tAt p.F187Y IBTK_ENST00000503631.1_Missense_Mutation_p.F187Y|IBTK_ENST00000510291.1_Missense_Mutation_p.F187Y NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 187 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) CACGGAGTGAAATTTACAAAG 0.353000 19 57 0 0 1 0 0 TRAV8-3 28683 broad.mit.edu 37 14 22321169 22321169 + RNA SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:22321169C>T ENST00000390435.1 + 0 327 CTGAGTACTTCTGTGCTGTGG 0.478000 20 60 0 0 1 0 0 SLC25A52 147407 broad.mit.edu 37 18 29340039 29340039 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr18:29340039G>A ENST00000269205.5 - 1 804 c.616C>T c.(616-618)Ccc>Tcc p.P206S SLC25A52_ENST00000579441.2_Missense_Mutation_p.P196S NM_001034172.2 NP_001029344.3 Q3SY17 MCAR2_HUMAN solute carrier family 25, member 52 196 transport integral to membrane|mitochondrial inner membrane TCCTTAATGGGACCTCGAAGG 0.478000 32 112 0 0 1 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32210981 32210981 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:32210981C>T ENST00000346541.3 + 6 1135 c.598C>T c.(598-600)Cca>Tca p.P200S CBFA2T2_ENST00000375279.2_Missense_Mutation_p.P200S|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.P191S|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.P171S|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.P171S|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.P171S|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.P210S NM_005093.3 NP_005084.1 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 200 TAFH. nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P191T(1)|p.P200T(1) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 CAAGCAGACCCCATCCCAGTA 0.587000 27 66 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72153752 72153752 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:72153752G>A ENST00000537465.1 - 20 3178 c.3020C>T c.(3019-3021)cCg>cTg p.P1007L PMFBP1_ENST00000237353.10_Missense_Mutation_p.P1002L|PMFBP1_ENST00000537792.1_Intron|PMFBP1_ENST00000355636.6_Missense_Mutation_p.P877L Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 1007 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) AGACGTACCCGGGCAGTGGGG 0.473000 22 65 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117639383 117639383 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:117639383C>T ENST00000368508.3 - 37 6171 c.5973G>A c.(5971-5973)aaG>aaA p.K1991K GOPC_ENST00000467125.1_5'UTR|ROS1_ENST00000368507.3_Silent_p.K1985K NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1991 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GGAATTCAATCTTCTCCTGGT 0.393000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 10 37 0 0 1 0 0 OR5M10 390167 broad.mit.edu 37 11 56344629 56344629 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:56344629G>A ENST00000526812.2 - 1 634 c.569C>T c.(568-570)tCt>tTt p.S190F NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 ACGGGTGTCAGAGCAGGCCAG 0.443000 24 65 0 0 1 0 0 ULBP2 80328 broad.mit.edu 37 6 150267668 150267668 + Missense_Mutation SNP A A T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:150267668A>T ENST00000367351.3 + 3 583 c.510A>T c.(508-510)gaA>gaT p.E170D NM_025217.2 NP_079493.1 Q9BZM5 N2DL2_HUMAN UL16 binding protein 2 170 MHC class I alpha-2 like. antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|cell surface|extracellular space|MHC class I protein complex MHC class I receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) AGATGAAAGAAAAGTGGGAGA 0.473000 50 158 0 0 1 0 0 ADAD1 132612 broad.mit.edu 37 4 123336636 123336636 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:123336636G>A ENST00000296513.2 + 11 1537 c.1352G>A c.(1351-1353)aGa>aAa p.R451K ADAD1_ENST00000388725.2_Missense_Mutation_p.R433K|ADAD1_ENST00000388724.2_Missense_Mutation_p.R440K NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 451 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTAGTCAACAGACCTCATATT 0.388000 49 151 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39070699 39070699 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:39070699C>T ENST00000355481.4 + 99 14558 c.14427C>T c.(14425-14427)ctC>ctT p.L4809L RYR1_ENST00000359596.3_Silent_p.L4814L|RYR1_ENST00000360985.3_Silent_p.L4809L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4814 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTGCCCATCTCCTGGACATCG 0.597000 37 75 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57769019 57769019 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:57769019C>T ENST00000371030.2 + 1 2945 c.2945C>T c.(2944-2946)tCa>tTa p.S982L NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 982 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TTTGTTGGGTCAGGACTGGGG 0.637000 25 61 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141726990 141726990 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:141726990G>A ENST00000475668.2 + 9 1112 c.1058G>A c.(1057-1059)gGa>gAa p.G353E MGAM_ENST00000549489.2_Missense_Mutation_p.G353E O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 353 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.G353E(2) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GTGTTCTTGGGAAACACTCCA 0.398000 29 79 0 0 1 0 0 OR8D4 338662 broad.mit.edu 37 11 123777273 123777273 + Missense_Mutation SNP G G A rs150490501 TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:123777273G>A ENST00000321355.2 + 1 165 c.135G>A c.(133-135)atG>atA p.M45I NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M45I(1) large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) ACCTCAGCATGATCTCAATTA 0.408000 42 105 0 0 1 0 0 OR6C65 403282 broad.mit.edu 37 12 55795218 55795218 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:55795218C>T ENST00000379665.2 + 1 1005 c.906C>T c.(904-906)ttC>ttT p.F302F NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 TTAGGGAATTCACCAAAAAAA 0.353000 18 38 0 0 1 0 0 EPS8L3 79574 broad.mit.edu 37 1 110302390 110302390 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:110302390G>A ENST00000369805.3 - 4 394 c.165C>T c.(163-165)ttC>ttT p.F55F EPS8L3_ENST00000361965.4_Silent_p.F55F|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.F55F NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 55 cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) CATCCATCTCGAACAGCTTCT 0.607000 39 38 0 0 1 0 0 OR52J3 119679 broad.mit.edu 37 11 5068238 5068238 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:5068238G>A ENST00000380370.1 + 1 483 c.483G>A c.(481-483)atG>atA p.M161I NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CACTTCCCATGGTCTATCTTA 0.453000 16 77 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8374849 8374849 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:8374849C>T ENST00000538603.1 - 7 1522 c.964G>A c.(964-966)Gga>Aga p.G322R FAM90A1_ENST00000307435.6_Missense_Mutation_p.G322R NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 322 nucleic acid binding|zinc ion binding p.G322R(1) endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) AGCTCACCTCCCTGGATGGCG 0.637000 18 30 0 0 1 0 0 BAG4 9530 broad.mit.edu 37 8 38065149 38065149 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:38065149C>T ENST00000287322.4 + 3 769 c.498C>T c.(496-498)tcC>tcT p.S166S BAG4_ENST00000521282.1_3'UTR|BAG4_ENST00000432471.2_Silent_p.S130S NM_004874.3 NP_004865.1 O95429 BAG4_HUMAN BCL2-associated athanogene 4 166 anti-apoptosis|apoptosis|protein folding cytoplasm|nucleus receptor signaling protein activity breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1) 11 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) CCAGTTACTCCACAGAAGTTC 0.527000 25 48 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 716084 716084 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:716084C>T ENST00000549091.1 + 36 4667 c.4575C>T c.(4573-4575)ccC>ccT p.P1525P WDR90_ENST00000547944.1_Silent_p.P122P|WDR90_ENST00000293879.4_Silent_p.P1523P|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000315764.4_Silent_p.P122P NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1523 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) AGATGCACCCCCACCCGGTGG 0.672000 20 68 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48713417 48713417 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:48713417G>A ENST00000314191.2 - 72 10106 c.10050C>T c.(10048-10050)atC>atT p.I3350I PRKDC_ENST00000338368.3_Silent_p.I3350I|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3351 FAT. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGTCCTCCTCGATTTCAGCAA 0.458000 Non-homologous end-joining 7 19 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11174416 11174416 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:11174416G>A ENST00000361445.4 - 53 7335 c.7259C>T c.(7258-7260)gCc>gTc p.A2420V MTOR_ENST00000376838.1_Missense_Mutation_p.A625V NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2420 PI3K/PI4K. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 ATAGACAAAGGCTTCCAGCAC 0.527000 24 36 0 0 1 0 0 OR4K13 390433 broad.mit.edu 37 14 20502829 20502829 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:20502829C>T ENST00000315693.2 - 1 90 c.89G>A c.(88-90)gGa>gAa p.G30E NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) CACAGAGAATCCCAAGAAGAA 0.398000 21 38 0 0 1 0 0 OR2T8 343172 broad.mit.edu 37 1 248085113 248085113 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:248085113C>T ENST00000319968.4 + 1 794 c.794C>T c.(793-795)tCc>tTc p.S265F NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S265Y(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCCCACAGGTCCACTAACCAC 0.493000 75 114 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179501362 179501362 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:179501362C>T ENST00000589042.1 - 225 41316 c.41092G>A c.(41092-41094)Gag>Aag p.E13698K TTN_ENST00000359218.5_Missense_Mutation_p.E4758K|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4825K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11130K|TTN_ENST00000591111.1_Missense_Mutation_p.E12057K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4633K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12057 Ig-like 93. 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) CCAACGAACTCTGATTCTGTC 0.458000 16 54 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100417333 100417333 + Silent SNP G G A rs2289058 byFrequency TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:100417333G>A ENST00000358173.3 - 6 1611 c.1143C>T c.(1141-1143)ccC>ccT p.P381P EPHB4_ENST00000360620.3_Silent_p.P381P|EPHB4_ENST00000477446.1_5'UTR NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 381 Fibronectin type-III 1. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) CCCGGGGGCCGGGGTCAAAAG 0.657000 11 30 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65489554 65489554 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:65489554G>A ENST00000261883.4 - 9 3236 c.3070C>T c.(3070-3072)Ctg>Ttg p.L1024L NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 1024 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 ACCTTCACCAGGGTGCGGTCC 0.592000 30 84 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46828842 46828842 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:46828842C>T ENST00000339613.2 + 11 1473 c.1218C>T c.(1216-1218)ctC>ctT p.L406L HIF3A_ENST00000600383.1_Silent_p.L393L|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Silent_p.L460L|HIF3A_ENST00000377670.4_Silent_p.L462L|HIF3A_ENST00000244303.6_Silent_p.L393L|HIF3A_ENST00000472815.1_Silent_p.L393L|HIF3A_ENST00000420102.2_Silent_p.L411L Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) TGCACAGACTCTTCACCTCCG 0.517000 33 139 0 0 1 0 0 FASLG 356 broad.mit.edu 37 1 172634809 172634809 + Missense_Mutation SNP G G A rs80358236 TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:172634809G>A ENST00000367721.2 + 4 683 c.499G>A c.(499-501)Gga>Aga p.G167R FASLG_ENST00000340030.3_3'UTR NM_000639.1 NP_000630.1 P48023 TNFL6_HUMAN Fas ligand (TNF superfamily, member 6) 167 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 AGACACCTATGGAATTGTCCT 0.433000 27 68 0 0 1 0 0 AKAP14 158798 broad.mit.edu 37 X 119037502 119037502 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:119037502G>A ENST00000371431.3 + 4 488 c.214G>A c.(214-216)Gaa>Aaa p.E72K AKAP14_ENST00000394594.2_Missense_Mutation_p.E72K|AKAP14_ENST00000371422.1_Missense_Mutation_p.E72K|AKAP14_ENST00000371423.2_Missense_Mutation_p.E72K|AKAP14_ENST00000334356.2_Missense_Mutation_p.E72K|AKAP14_ENST00000371425.4_Missense_Mutation_p.E72K NM_178813.5 NP_848928.1 Q86UN6 AKA28_HUMAN A kinase (PRKA) anchor protein 14 72 cytoplasm endometrium(4)|large_intestine(1)|lung(8) 13 GACTCACGGTGAATTCACTGT 0.423000 21 35 0 0 1 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409143 56409143 + Missense_Mutation SNP A A T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:56409143A>T ENST00000544374.1 - 1 804 c.776T>A c.(775-777)tTt>tAt p.F259Y OR5AP2_ENST00000302981.1_Missense_Mutation_p.F258Y Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 GATTGTTCCAAAGAATATGGT 0.458000 37 95 0 0 1 0 0 PUM2 23369 broad.mit.edu 37 2 20458107 20458107 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:20458107G>A ENST00000361078.2 - 15 2403 c.2381C>T c.(2380-2382)gCc>gTc p.A794V PUM2_ENST00000319801.5_Missense_Mutation_p.A715V|PUM2_ENST00000338086.5_Missense_Mutation_p.A794V|PUM2_ENST00000403432.1_Missense_Mutation_p.A794V|PUM2_ENST00000536417.1_Missense_Mutation_p.A738V Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 794 PUM-HD. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTAGCCAGGGCTAATTTTTG 0.398000 30 50 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756473 94756473 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:94756473G>A ENST00000554723.1 - 2 996 c.578C>T c.(577-579)tCc>tTc p.S193F SERPINA10_ENST00000554173.1_Missense_Mutation_p.S153F|SERPINA10_ENST00000261994.4_Missense_Mutation_p.S153F|SERPINA10_ENST00000393096.1_Missense_Mutation_p.S153F Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 153 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) CAGGTTGCGGGAGAGGGTCTC 0.517000 18 74 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21796666 21796666 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:21796666G>A ENST00000206660.6 + 18 2979 c.2979G>A c.(2977-2979)aaG>aaA p.K993K RPGRIP1_ENST00000557771.1_Silent_p.K955K|RPGRIP1_ENST00000556336.1_Silent_p.K650K|RPGRIP1_ENST00000400017.2_Silent_p.K993K|RPGRIP1_ENST00000307974.4_Silent_p.K352K|RPGRIP1_ENST00000382933.4_Silent_p.K319K Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 993 Interaction with RPGR. response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GAGAAAGAAAGGAGAAGGAGC 0.433000 27 55 0 0 1 0 0 SLC24A4 123041 broad.mit.edu 37 14 92922828 92922828 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:92922828G>A ENST00000532405.1 + 12 1357 c.1131G>A c.(1129-1131)ggG>ggA p.G377G SLC24A4_ENST00000298877.1_Silent_p.G360G|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000531433.1_Silent_p.G358G|SLC24A4_ENST00000393265.2_Silent_p.G313G|SLC24A4_ENST00000351924.5_Silent_p.G341G Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 377 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) TTGAGAACGGGAATGTTCCTG 0.597000 OREG0022876 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 42 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1783079 1783079 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:1783079G>A ENST00000539485.1 - 29 4114 c.3881C>T c.(3880-3882)tCc>tTc p.S1294F ATP8B3_ENST00000525591.1_Missense_Mutation_p.S1247F|ATP8B3_ENST00000310127.6_Missense_Mutation_p.S1284F O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1284 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 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) TGGGTCTAGGGATTCAGATGC 0.537000 11 22 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13727712 13727712 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:13727712C>T ENST00000265104.4 - 70 12041 c.11937G>A c.(11935-11937)gaG>gaA p.E3979E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3979 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) GAGGTTCCTCCTCCGGGTTTT 0.418000 Kartagener syndrome 23 51 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196718247 196718247 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:196718247G>A ENST00000312428.6 - 46 8701 c.8601C>T c.(8599-8601)gaC>gaT p.D2867D NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2867 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TGCTGCAAAGGTCAACCTCGA 0.383000 15 22 0 0 1 0 0 PYGM 5837 broad.mit.edu 37 11 64521012 64521012 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:64521012G>A ENST00000164139.3 - 11 1780 c.1382C>T c.(1381-1383)tCc>tTc p.S461F PYGM_ENST00000377432.3_Missense_Mutation_p.S373F NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 461 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) GAGGATCTCGGAGTGGATGCG 0.652000 4 14 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112524905 112524905 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:112524905C>T ENST00000369697.1 - 1 513 c.444G>A c.(442-444)atG>atA p.M148I KCND3_ENST00000302127.4_Missense_Mutation_p.M148I|KCND3_ENST00000315987.2_Missense_Mutation_p.M148I Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 148 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CGTTGTCGTCCATGAGCCGCT 0.632000 32 56 0 0 1 0 0 NPY1R 4886 broad.mit.edu 37 4 164247611 164247611 + Silent SNP A A G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:164247611A>G ENST00000296533.2 - 2 627 c.96T>C c.(94-96)gaT>gaC p.D32D NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 32 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GCAGATGACAATCATCATTTT 0.393000 29 83 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47246260 47246260 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:47246260C>T ENST00000300404.2 + 10 1552 c.1493C>T c.(1492-1494)tCa>tTa p.S498L B4GALNT2_ENST00000393354.2_Missense_Mutation_p.S438L|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.S412L NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 498 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) GTGGCTCACTCAGGTGGGAAG 0.577000 8 33 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84671525 84671525 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:84671525G>A ENST00000284136.6 - 8 981 c.938C>T c.(937-939)cCt>cTt p.P313L NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 313 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 ATCACTTCCAGGAATTGAGCA 0.398000 82 191 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34867067 34867067 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:34867067C>T ENST00000360581.1 + 5 661 c.533C>T c.(532-534)tCc>tTc p.S178F NPSR1_ENST00000359791.1_Missense_Mutation_p.S178F|NPSR1_ENST00000381542.1_Missense_Mutation_p.S112F|NPSR1_ENST00000381539.3_Missense_Mutation_p.S178F|NPSR1_ENST00000531252.1_Missense_Mutation_p.S167F NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 178 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) TTTCTGTTCTCCATTCCCACC 0.522000 18 58 0 0 1 0 0 TRGV4 6977 broad.mit.edu 37 7 38393368 38393368 + RNA SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:38393368C>T ENST00000390345.2 - 0 635 AATAAGATTTCGCAGTATCAT 0.468000 21 44 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19341013 19341013 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr22:19341013G>A ENST00000263208.5 - 23 2970 c.2714C>T c.(2713-2715)tCc>tTc p.S905F HIRA_ENST00000546308.1_3'UTR|HIRA_ENST00000541063.1_Missense_Mutation_p.S861F|HIRA_ENST00000340170.4_Missense_Mutation_p.S698F NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 905 Interaction with histone H4. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) ATGAGGCACGGAGAAGAGCCG 0.622000 9 23 0 0 1 0 0 CA5A 763 broad.mit.edu 37 16 87960436 87960436 + Silent SNP G G A rs145171357 byFrequency TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:87960436G>A ENST00000309893.2 - 2 323 c.258C>T c.(256-258)tcC>tcT p.S86S CA5A_ENST00000568801.1_5'UTR NM_001739.1 NP_001730.1 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial 86 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(80;0.0513) CCGCTTCATAGGAGACCCTGA 0.607000 19 45 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57417763 57417763 + Silent SNP C C T rs148088012 TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:57417763C>T ENST00000543257.1 - 6 1034 c.468G>A c.(466-468)acG>acA p.T156T C8B_ENST00000371237.4_Silent_p.T208T|C8B_ENST00000535057.1_Silent_p.T146T NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 208 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 TCCTAAACCTCGTGTTCAGGA 0.512000 47 136 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117114062 117114062 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:117114062G>A ENST00000310357.3 - 6 2045 c.2024C>T c.(2023-2025)tCc>tTc p.S675F GPRC6A_ENST00000368549.3_Missense_Mutation_p.S604F|GPRC6A_ENST00000530250.1_Missense_Mutation_p.S500F NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 675 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CAAAATGCAGGAGATGCAAAG 0.403000 20 81 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127666379 127666379 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:127666379C>T ENST00000508053.1 - 39 5205 c.4231G>A c.(4231-4233)Gaa>Aaa p.E1411K FBN2_ENST00000507835.1_Missense_Mutation_p.E261K|FBN2_ENST00000508989.1_Missense_Mutation_p.E1378K|FBN2_ENST00000262464.4_Missense_Mutation_p.E1411K P35556 FBN2_HUMAN fibrillin 2 1411 EGF-like 23; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.E1411Q(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTAGAACATTCGTCCAGATCT 0.428000 13 48 0 0 1 0 0 XKR3 150165 broad.mit.edu 37 22 17288903 17288903 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr22:17288903C>T ENST00000331428.5 - 2 163 c.61G>A c.(61-63)Gaa>Aaa p.E21K NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 21 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) ACTATTTCTTCTTTCGAAGAT 0.418000 43 94 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1507796 1507796 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:1507796C>T ENST00000345913.4 + 14 2554 c.2463C>T c.(2461-2463)ttC>ttT p.F821F TPO_ENST00000382201.3_Silent_p.F764F|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Silent_p.F648F|TPO_ENST00000346956.3_Intron|TPO_ENST00000382198.1_Silent_p.F648F|TPO_ENST00000337415.3_Silent_p.F821F|TPO_ENST00000329066.4_Silent_p.F821F NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 821 EGF-like; calcium-binding (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) AAGGCGGCTTCCAGTGTCTCT 0.597000 19 51 0 0 1 0 0 PRDM14 63978 broad.mit.edu 37 8 70971075 70971075 + Missense_Mutation SNP A A C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:70971075A>C ENST00000276594.2 - 6 1387 c.1186T>G c.(1186-1188)Tct>Gct p.S396A NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) CCTTCTGCAGACTCTGTCAAA 0.398000 18 42 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124392716 124392716 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:124392716C>T ENST00000338354.3 + 49 6126 c.6020C>T c.(6019-6021)tCc>tTc p.S2007F DMBT1_ENST00000330163.4_Missense_Mutation_p.S1379F|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1379F|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1997F|DMBT1_ENST00000368909.3_Missense_Mutation_p.S2007F|DMBT1_ENST00000359586.6_Missense_Mutation_p.S727F|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1997F Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2007 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GCAGATTATTCCTGCGGAGGC 0.473000 31 72 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140712259 140712259 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:140712259G>A ENST00000517417.1 + 1 2008 c.2008G>A c.(2008-2010)Gac>Aac p.D670N PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D670N NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGATCTCCGACATCCTGGC 0.697000 32 96 0 0 1 0 0 NPLOC4 55666 broad.mit.edu 37 17 79556066 79556066 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:79556066G>A ENST00000374747.5 - 12 1314 c.1185C>T c.(1183-1185)gtC>gtT p.V395V NPLOC4_ENST00000539314.1_Silent_p.V234V|NPLOC4_ENST00000331134.6_Silent_p.V395V Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) 395 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) ACTCATCACGGACCAGTGCCA 0.502000 20 63 0 0 1 0 0 IL36A 27179 broad.mit.edu 37 2 113763579 113763579 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:113763579G>A ENST00000259211.6 + 2 450 c.39G>A c.(37-39)ggG>ggA p.G13G NM_014440.1 NP_055255.1 Q9UHA7 IL36A_HUMAN interleukin 36, alpha 13 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 CTCAGCAGGGGAGCATTCAGG 0.468000 21 67 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762118 92762118 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:92762118G>A ENST00000318238.4 - 5 4383 c.3167C>T c.(3166-3168)tCc>tTc p.S1056F SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1056F|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1056F NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1056 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CATTAATGGGGAAAACAGAGT 0.393000 40 87 0 0 1 0 0 OR1I1 126370 broad.mit.edu 37 19 15198834 15198834 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:15198834G>A ENST00000209540.2 + 1 1044 c.958G>A c.(958-960)Gat>Aat p.D320N NM_001004713.1 NP_001004713.1 O60431 OR1I1_HUMAN olfactory receptor, family 1, subfamily I, member 1 320 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2) 20 acagttattggatgtttatca 0.527000 9 29 0 0 1 0 0 GFRAL 389400 broad.mit.edu 37 6 55264214 55264214 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:55264214C>T ENST00000340465.2 + 8 1182 c.1096C>T c.(1096-1098)Ctt>Ttt p.L366F NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 366 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CTGTGGAATCCTTCTGTTGGT 0.373000 19 55 0 0 1 0 0 OPTC 26254 broad.mit.edu 37 1 203467937 203467937 + Missense_Mutation SNP C C A rs149651299 TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:203467937C>A ENST00000367222.2 + 4 615 c.499C>A c.(499-501)Cgt>Agt p.R167S NM_014359.3 NP_055174.1 Q9UBM4 OPT_HUMAN opticin 167 proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.109) CCGCATCAGCCGTATCAGGGC 0.552000 26 62 4.87955e-14 4.97357e-14 1 1 0 BMP6 654 broad.mit.edu 37 6 7845453 7845453 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:7845453G>A ENST00000283147.6 + 2 904 c.745G>A c.(745-747)Gag>Aag p.E249K NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 249 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) TCCTGAGGGTGAGGTGGTGAC 0.433000 42 91 0 0 1 0 0 EFCAB13 124989 broad.mit.edu 37 17 45419399 45419399 + Splice_Site SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:45419399G>A ENST00000331493.2 + 6 714 c.e6+1 EFCAB13_ENST00000517484.1_Splice_Site|ITGB3_ENST00000435993.2_Splice_Site|ITGB3_ENST00000560629.1_Splice_Site NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 AAGAACTGAGGTAAATAAAGA 0.313000 15 27 0 0 1 0 0 OPCML 4978 broad.mit.edu 37 11 132527054 132527054 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:132527054C>T ENST00000331898.7 - 2 906 c.328G>A c.(328-330)Gaa>Aaa p.E110K OPCML_ENST00000541867.1_Missense_Mutation_p.E110K|OPCML_ENST00000374778.4_Missense_Mutation_p.E69K|OPCML_ENST00000524381.1_Missense_Mutation_p.E103K|OPCML_ENST00000529038.1_5'UTR NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 110 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity p.E110K(1) endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TACGGACCTTCGTCATACACA 0.512000 33 80 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 9021761 9021761 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:9021761G>A ENST00000299698.7 + 33 4363 c.4183G>A c.(4183-4185)Gaa>Aaa p.E1395K A2ML1_ENST00000539547.1_Missense_Mutation_p.E904K NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 1239 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 GAAGAAGGTTGAATTTGGAAC 0.448000 51 136 0 0 1 0 0 ZNF525 170958 broad.mit.edu 37 19 53884616 53884616 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:53884616C>T ENST00000467003.1 + 4 877 c.676C>T c.(676-678)Cgt>Tgt p.R226C ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.R262C zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 TGCACGCCATCGTAGATGTCA 0.403000 29 89 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995047 140995047 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:140995047G>A ENST00000285879.4 + 4 2143 c.1857G>A c.(1855-1857)gaG>gaA p.E619E MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 619 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCAGGGGGAGGAATTCCAGT 0.567000 HNSCC(15;0.026) 129 202 0 0 1 0 0 IL36A 27179 broad.mit.edu 37 2 113763578 113763578 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:113763578G>A ENST00000259211.6 + 2 449 c.38G>A c.(37-39)gGg>gAg p.G13E NM_014440.1 NP_055255.1 Q9UHA7 IL36A_HUMAN interleukin 36, alpha 13 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 CCTCAGCAGGGGAGCATTCAG 0.473000 18 71 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38949939 38949939 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:38949939G>A ENST00000355481.4 + 19 2452 c.2321G>A c.(2320-2322)gGg>gAg p.G774E RYR1_ENST00000359596.3_Missense_Mutation_p.G774E|RYR1_ENST00000360985.3_Missense_Mutation_p.G774E NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 774 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AACCTGGACGGGCTCTTCTTC 0.602000 20 32 0 0 1 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64748621 64748621 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:64748621C>T ENST00000536360.1 - 5 1569 c.756G>A c.(754-756)gtG>gtA p.V252V Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 252 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) CCAATGTCTCCACAAACCGTT 0.418000 25 99 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8374449 8374449 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:8374449G>A ENST00000538603.1 - 7 1922 c.1364C>T c.(1363-1365)tCc>tTc p.S455F FAM90A1_ENST00000307435.6_Missense_Mutation_p.S455F NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 455 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) GTCCTCTGAGGAGGAGGGAAC 0.607000 13 39 0 0 1 0 0 AMPD3 272 broad.mit.edu 37 11 10483118 10483118 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:10483118C>T ENST00000396554.3 + 2 420 c.79C>T c.(79-81)Cgg>Tgg p.R27W AMPD3_ENST00000444303.2_5'UTR NM_000480.2 NP_000471.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 18 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) TGAGCAAGTCCGGCTCCTGGC 0.547000 46 145 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114141766 114141766 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:114141766G>A ENST00000276198.1 + 6 1893 c.1165G>A c.(1165-1167)Gta>Ata p.V389I HTR2C_ENST00000371951.1_Missense_Mutation_p.V389I|HTR2C_ENST00000371950.3_3'UTR NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 389 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) CAATTATAAGGTAGAGAAAAA 0.428000 55 77 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236732404 236732404 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:236732404G>A ENST00000366582.3 - 29 4083 c.3969C>T c.(3967-3969)atC>atT p.I1323I HEATR1_ENST00000366581.2_Silent_p.I1242I NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1323 rRNA processing nucleolus|ribonucleoprotein complex protein binding p.I1323M(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AAATAGACATGATATTGTGTA 0.313000 11 39 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67553656 67553656 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:67553656C>T ENST00000335894.4 + 2 164 c.98C>T c.(97-99)tCa>tTa p.S33L IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000512104.1_Missense_Mutation_p.S33L NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 33 S -> T (in Ref. 1; AAK27307). NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) ACAAAATTCTCACCTGAGGAA 0.328000 35 84 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228470836 228470836 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:228470836G>A ENST00000570156.2 + 37 9949 c.9875G>A c.(9874-9876)aGg>aAg p.R3292K OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2863K|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1710K|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2863K|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2326 Ig-like 33. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTGAAGGACAGGAAGGCCATC 0.657000 3 5 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92532485 92532485 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:92532485G>A ENST00000298047.6 + 9 6323 c.6306G>A c.(6304-6306)ctG>ctA p.L2102L FAT3_ENST00000525166.1_Silent_p.L1952L|FAT3_ENST00000409404.2_Silent_p.L2102L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2102 Cadherin 19. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCGGGACTCTGATTTATCAGG 0.443000 TCGA Ovarian(4;0.039) 36 18 0 0 1 0 0 OLFM3 118427 broad.mit.edu 37 1 102302452 102302452 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:102302452G>A ENST00000370103.4 - 2 412 c.199C>T c.(199-201)Cgc>Tgc p.R67C OLFM3_ENST00000338858.5_Missense_Mutation_p.R87C|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.R87C|OLFM3_ENST00000536598.1_5'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 87 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) AGTAGTTGGCGAAGTTGCCTG 0.458000 53 80 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136582572 136582572 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:136582572C>T ENST00000531224.1 - 12 2840 c.2588G>A c.(2587-2589)gGa>gAa p.G863E BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G690E|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G861E|BCLAF1_ENST00000031135.9_Missense_Mutation_p.G81E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G814E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G812E|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G812E NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 863 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding p.G863E(1) haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ACGACCTCTTCCTCTTTTGGC 0.408000 48 265 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10432554 10432554 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:10432554G>A ENST00000245503.5 - 26 3663 c.3279C>T c.(3277-3279)atC>atT p.I1093I CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.I1093I NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1093 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCAGATTGCTGATTTCAAACT 0.333000 23 41 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801068 185801068 + Silent SNP A A G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:185801068A>G ENST00000302277.6 + 4 1539 c.945A>G c.(943-945)caA>caG p.Q315Q NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 315 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GCAAGTTTCAACTTCAGTTAT 0.333000 16 57 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86415685 86415685 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:86415685C>T ENST00000361669.2 + 3 1676 c.577C>T c.(577-579)Ccc>Tcc p.P193S GRM3_ENST00000394720.2_Missense_Mutation_p.P191S|GRM3_ENST00000439827.1_Missense_Mutation_p.P193S|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.P65S NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 193 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GACCGTGCCCCCCGACTTCTA 0.572000 34 112 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60511877 60511877 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:60511877C>T ENST00000360469.5 + 16 2715 c.2627C>T c.(2626-2628)aCc>aTc p.T876I CDH4_ENST00000543233.1_Missense_Mutation_p.T802I NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 876 Ser-rich. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) AGCGGCTCCACCGCAGGCTCC 0.627000 12 34 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80620348 80620348 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:80620348G>A ENST00000466387.1 + 12 1793 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K CTNNA2_ENST00000361291.4_Missense_Mutation_p.E391K|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E357K|CTNNA2_ENST00000343114.3_Missense_Mutation_p.E36K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E357K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E357K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.E357K P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 357 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 TGGAAGGAAAGAAAAAGGAGA 0.289000 21 65 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46230571 46230571 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:46230571C>T ENST00000334344.6 + 8 992 c.820C>T c.(820-822)Cga>Tga p.R274* ARID2_ENST00000422737.1_Nonsense_Mutation_p.R125*|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 274 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCATCCACCTCGAAAGCTGGG 0.363000 """N, S, F""" hepatocellular carcinoma 36 59 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31341880 31341880 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:31341880C>T ENST00000544665.3 + 28 3304 c.3233C>T c.(3232-3234)tCc>tTc p.S1078F ITGAM_ENST00000287497.8_Missense_Mutation_p.S1077F NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 1077 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 TTTAACGATTCCGTGTTCACC 0.607000 10 23 0 0 1 0 0 C10orf120 399814 broad.mit.edu 37 10 124459225 124459225 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:124459225C>T ENST00000329446.4 - 1 113 c.82G>A c.(82-84)Gaa>Aaa p.E28K NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 28 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) ACTGGCTTTTCATTCTTCCTT 0.443000 27 50 0 0 1 0 0 CLDN1 9076 broad.mit.edu 37 3 190027972 190027972 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:190027972G>A ENST00000295522.3 - 3 727 c.459C>T c.(457-459)acC>acT p.T153T NM_021101.4 NP_066924.1 O95832 CLD1_HUMAN claudin 1 153 calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) CATTGACTGGGGTCATAGGGT 0.378000 17 50 0 0 1 0 0 GJB3 2707 broad.mit.edu 37 1 35250896 35250896 + Missense_Mutation SNP T T A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:35250896T>A ENST00000373366.2 + 2 1148 c.533T>A c.(532-534)aTt>aAt p.I178N RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Missense_Mutation_p.I178N NM_024009.2 NP_076872.1 O75712 CXB3_HUMAN gap junction protein, beta 3, 31kDa 178 cell communication connexon complex|integral to membrane gap junction channel activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GACTGCTACATTGCCCGACCT 0.577000 48 103 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228403470 228403470 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:228403470G>A ENST00000570156.2 + 6 2109 c.2035G>A c.(2035-2037)Ggg>Agg p.G679R OBSCN_ENST00000422127.1_Missense_Mutation_p.G679R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.G679R|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 679 Ig-like 6. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAGCCTGCACGGGGCGCAGCT 0.652000 5 18 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36872551 36872551 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:36872551G>A ENST00000301807.6 - 21 8638 c.6741C>T c.(6739-6741)ttC>ttT p.F2247F TRANK1_ENST00000428977.2_Silent_p.F2247F|TRANK1_ENST00000429976.2_Silent_p.F2797F NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2797 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CCTTCTCGTGGAAAAATTCTG 0.527000 41 151 0 0 1 0 0 THAP4 51078 broad.mit.edu 37 2 242572546 242572546 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:242572546G>A ENST00000407315.1 - 2 1457 c.1026C>T c.(1024-1026)atC>atT p.I342I NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 342 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) GCAGTGAGTCGATGAGCTTGC 0.627000 15 39 0 0 1 0 0 SHROOM1 134549 broad.mit.edu 37 5 132159880 132159880 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:132159880G>A ENST00000378679.3 - 7 2277 c.1473C>T c.(1471-1473)ccC>ccT p.P491P SHROOM1_ENST00000319854.3_Silent_p.P491P|SHROOM1_ENST00000378676.1_Silent_p.P422P NM_001172700.1 NP_001166171.1 Q2M3G4 SHRM1_HUMAN shroom family member 1 491 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGCTGTGGGGGGATTGGTGG 0.537000 15 56 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20476979 20476979 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:20476979G>A ENST00000573854.1 + 3 432 c.318G>A c.(316-318)ggG>ggA p.G106G ACSM2A_ENST00000417235.2_Silent_p.G27G|ACSM2A_ENST00000575690.1_Silent_p.G106G|ACSM2A_ENST00000219054.6_Silent_p.G106G|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000396104.2_Silent_p.G106G|ACSM2A_ENST00000424070.1_Silent_p.G106G|ACSM2A_ENST00000575558.1_3'UTR NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 106 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 TGCAGCGTGGGGATCGTGTGG 0.572000 15 46 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17698469 17698469 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:17698469C>T ENST00000399080.2 - 1 1237 c.1214G>A c.(1213-1215)aGa>aAa p.R405K NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 405 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TCCTCTATTTCTTCTCAAAAT 0.313000 13 46 0 0 1 0 0 ZDHHC11 79844 broad.mit.edu 37 5 840527 840527 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:840527G>A ENST00000511539.1 - 2 332 c.228C>T c.(226-228)gtC>gtT p.V76V ZDHHC11_ENST00000283441.8_Intron|ZDHHC11_ENST00000424784.2_Intron|ZDHHC11_ENST00000503758.2_Intron Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 0 integral to membrane acyltransferase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) CAGGGTTAGGGACATACTCAA 0.577000 8 45 0 0 1 0 0 OR52E8 390079 broad.mit.edu 37 11 5878768 5878768 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:5878768G>A ENST00000537935.1 - 1 196 c.165C>T c.(163-165)atC>atT p.I55I TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTCAGTCTGGATCACAAACA 0.478000 68 137 0 0 1 0 0 SELE 6401 broad.mit.edu 37 1 169698400 169698400 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:169698400G>A ENST00000333360.7 - 7 1156 c.1017C>T c.(1015-1017)ttC>ttT p.F339F SELE_ENST00000367782.4_Silent_p.F339F|SELE_ENST00000367775.1_Silent_p.F277F|SELE_ENST00000367774.1_Silent_p.F339F|SELE_ENST00000367781.4_Silent_p.F339F|SELE_ENST00000367776.1_Silent_p.F339F|SELE_ENST00000367780.4_Silent_p.F277F|SELE_ENST00000367777.1_Silent_p.F339F|SELE_ENST00000367779.4_Silent_p.F339F|C1orf112_ENST00000498289.1_Intron NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 339 Sushi 3. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) CCTGCAACATGAAGCCTTCCT 0.527000 13 37 0 0 1 0 0 BPGM 669 broad.mit.edu 37 7 134346437 134346437 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:134346437C>T ENST00000393132.2 + 3 667 c.178C>T c.(178-180)Ctt>Ttt p.L60F BPGM_ENST00000344924.3_Missense_Mutation_p.L60F|BPGM_ENST00000418040.1_Missense_Mutation_p.L60F NM_199186.2 NP_954655.1 P07738 PMGE_HUMAN 2,3-bisphosphoglycerate mutase 60 glycolysis|respiratory gaseous exchange 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity breast(1)|endometrium(1)|lung(2)|stomach(1) 5 CACATCTGTCCTTAATCGGTC 0.493000 14 40 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538936 55538936 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:55538936G>A ENST00000220676.1 + 4 2642 c.2494G>A c.(2494-2496)Gat>Aat p.D832N NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 832 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AAAACCCAAAGATTTTTATGC 0.328000 20 53 0 0 1 0 0 REN 5972 broad.mit.edu 37 1 204128724 204128724 + Splice_Site SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:204128724C>T ENST00000367195.2 - 5 536 c.e5-1 REN_ENST00000272190.8_Splice_Site P00797 RENI_HUMAN renin angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1) 19 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) TTCCACCCACCTGTGGGAGGA 0.597000 11 46 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50769433 50769433 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:50769433G>A ENST00000216923.4 - 6 1647 c.1298C>T c.(1297-1299)tCc>tTc p.S433F ZFP64_ENST00000371515.4_Missense_Mutation_p.S431F|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.S379F NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 CCGCATGAAGGAGGCATCGCA 0.567000 21 67 0 0 1 0 0 FAM46B 115572 broad.mit.edu 37 1 27338932 27338932 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:27338932G>A ENST00000289166.5 - 1 395 c.230C>T c.(229-231)cCc>cTc p.P77L NM_052943.3 NP_443175.2 Q96A09 FA46B_HUMAN family with sequence similarity 46, member B 77 breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) GCTCAGCGTGGGGAAGTTGCC 0.657000 7 3 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784682 9784682 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:9784682C>T ENST00000304374.2 + 1 1425 c.1029C>T c.(1027-1029)gtC>gtT p.V343V NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 343 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CCTTCGACGTCTTCGTCTGGT 0.597000 28 125 0 0 1 0 0 ZNF606 80095 broad.mit.edu 37 19 58490716 58490716 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:58490716C>T ENST00000341164.4 - 7 1952 c.1332G>A c.(1330-1332)acG>acA p.T444T ZNF606_ENST00000536132.1_Silent_p.T354T NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) GTTCATGTTTCGTAAGGGCTG 0.363000 19 34 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215838741 215838741 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:215838741C>T ENST00000272895.7 - 36 5713 c.5494G>A c.(5494-5496)Gaa>Aaa p.E1832K ABCA12_ENST00000389661.4_Missense_Mutation_p.E1514K NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1832 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TTCCATTTTTCCAGACTGTCT 0.378000 18 44 0 0 1 0 0 ICA1 3382 broad.mit.edu 37 7 8258108 8258108 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:8258108G>A ENST00000402384.3 - 6 672 c.406C>T c.(406-408)Cga>Tga p.R136* ICA1_ENST00000396675.3_Nonsense_Mutation_p.R136*|ICA1_ENST00000407906.1_Nonsense_Mutation_p.R136*|ICA1_ENST00000406470.2_Nonsense_Mutation_p.R136*|ICA1_ENST00000265577.7_Nonsense_Mutation_p.R135*|ICA1_ENST00000476942.1_5'UTR|ICA1_ENST00000422063.2_Nonsense_Mutation_p.R136*|ICA1_ENST00000401396.1_Nonsense_Mutation_p.R124* Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 136 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) TGGTGAAATCGACACAAAGGA 0.473000 20 45 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133923693 133923693 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:133923693C>T ENST00000220616.4 + 19 4114 c.4074C>T c.(4072-4074)acC>acT p.T1358T TG_ENST00000377869.1_Silent_p.T1358T NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1358 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GTTGTCTGACCAGGGAGCGTT 0.473000 49 94 0 0 1 0 0 C15orf54 400360 broad.mit.edu 37 15 39544514 39544514 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:39544514G>A ENST00000318578.3 + 2 546 c.178G>A c.(178-180)Gag>Aag p.E60K RP11-624L4.1_ENST00000558209.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.E60K|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA NM_207445.2 NP_997328.1 Q8N8G6 CO054_HUMAN chromosome 15 open reading frame 54 60 NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2) 5 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) TCACATGACGGAGCTCCCTCT 0.433000 105 258 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756472 94756472 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:94756472G>A ENST00000554723.1 - 2 997 c.579C>T c.(577-579)tcC>tcT p.S193S SERPINA10_ENST00000554173.1_Silent_p.S153S|SERPINA10_ENST00000261994.4_Silent_p.S153S|SERPINA10_ENST00000393096.1_Silent_p.S153S Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 153 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) CCAGGTTGCGGGAGAGGGTCT 0.522000 19 77 0 0 1 0 0 CYB5D2 124936 broad.mit.edu 37 17 4047155 4047155 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:4047155C>T ENST00000301391.3 + 1 606 c.106C>T c.(106-108)Cgc>Tgc p.R36C CYB5D2_ENST00000575251.1_Intron|CYB5D2_ENST00000573984.1_Intron NM_144611.3 NP_653212.1 Q8WUJ1 NEUFC_HUMAN cytochrome b5 domain containing 2 36 Cytochrome b5 heme-binding. nervous system development extracellular region heme binding breast(1)|large_intestine(3)|liver(2)|ovary(1) 7 CGCTGGCTTTCGCCTTTTCAT 0.672000 23 47 0 0 1 0 0 TLK2 11011 broad.mit.edu 37 17 60689771 60689771 + Silent SNP T T C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:60689771T>C ENST00000582809.1 + 23 2354 c.1651T>C c.(1651-1653)Ttg>Ctg p.L551L TLK2_ENST00000542523.1_Silent_p.L668L|TLK2_ENST00000346027.5_Silent_p.L700L|TLK2_ENST00000343388.7_Silent_p.L668L|TLK2_ENST00000326270.9_Silent_p.L722L Q86UE8 TLK2_HUMAN tousled-like kinase 2 722 Protein kinase. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 TCGACGATGCTTGGCCTACCG 0.542000 27 49 0 0 1 0 0 CD300LG 146894 broad.mit.edu 37 17 41926210 41926210 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:41926210G>A ENST00000317310.4 + 2 369 c.328G>A c.(328-330)Gaa>Aaa p.E110K CD300LG_ENST00000586233.1_Missense_Mutation_p.E110K|CD300LG_ENST00000588884.1_Missense_Mutation_p.E110K|CD300LG_ENST00000539718.1_Missense_Mutation_p.E110K|CD300LG_ENST00000377203.4_Missense_Mutation_p.E110K|CD300LG_ENST00000293396.8_Missense_Mutation_p.E110K NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g 110 Ig-like V-type. apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity p.E110K(3) central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) GTGTGGGGTCGAAAAACGGGG 0.592000 28 85 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2604963 2604963 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:2604963G>A ENST00000358864.1 + 17 2242 c.2227G>A c.(2227-2229)Gat>Aat p.D743N NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 743 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 CATTGAAAACGATTTCCCAAC 0.483000 25 87 0 0 1 0 0 NAALADL1 10004 broad.mit.edu 37 11 64825364 64825364 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:64825364G>A ENST00000358658.3 - 3 490 c.463C>T c.(463-465)Cct>Tct p.P155S NAALADL1_ENST00000339885.2_Missense_Mutation_p.P155S|NAALADL1_ENST00000355721.3_Missense_Mutation_p.P155S|NAALADL1_ENST00000340252.4_Missense_Mutation_p.P155S|NAALADL1_ENST00000356632.3_Missense_Mutation_p.P155S|NAALADL1_ENST00000355369.2_Missense_Mutation_p.P155S NM_005468.2 NP_005459.2 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 1 155 proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 29 GTTCCAGAAGGAGCATAGGCA 0.647000 23 77 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139905958 139905958 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr9:139905958G>A ENST00000265662.5 - 37 5847 c.5700C>T c.(5698-5700)gtC>gtT p.V1900V ABCA2_ENST00000341511.6_Silent_p.V1900V|ABCA2_ENST00000371605.3_Silent_p.V1899V Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1899 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CGGAGCTGGGGACCTCGAACC 0.632000 4 7 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50053842 50053842 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:50053842C>T ENST00000376042.1 + 6 2971 c.2673C>T c.(2671-2673)atC>atT p.I891I CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.I891I|CCNB3_ENST00000348603.2_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 891 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) AGGAGACCATCTTCAAGGAGT 0.498000 31 31 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144945634 144945634 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:144945634C>T ENST00000525985.1 - 2 1859 c.1788G>A c.(1786-1788)gtG>gtA p.V596V P58107 EPIPL_HUMAN epiplakin 1 596 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCAGGCTGCCCACATCCTTGG 0.637000 9 17 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9928059 9928059 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:9928059C>T ENST00000396573.2 - 9 1989 c.1680G>A c.(1678-1680)atG>atA p.M560I GRIN2A_ENST00000330684.3_Missense_Mutation_p.M560I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M403I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M560I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M560I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M560I NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 560 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCACAAACATCATCACCCAGA 0.433000 39 118 0 0 1 0 0 PARP12 64761 broad.mit.edu 37 7 139741542 139741542 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:139741542C>T ENST00000263549.3 - 6 1957 c.1084G>A c.(1084-1086)Gcc>Acc p.A362T NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 362 nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) ACAGAGGAGGCCGTGGAGAGG 0.517000 76 162 0 0 1 0 0 LIPI 149998 broad.mit.edu 37 21 15561696 15561696 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr21:15561696C>T ENST00000344577.2 - 2 179 c.154G>A c.(154-156)Gat>Aat p.D52N LIPI_ENST00000536861.1_Missense_Mutation_p.D31N NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 31 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) CTGAAGGAATCCTTTACACTT 0.348000 29 95 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148806 34148806 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:34148806G>A ENST00000346193.3 - 1 1641 c.1590C>T c.(1588-1590)ctC>ctT p.L530L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 530 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GCTCCGGACCGAGACTGGACG 0.657000 33 68 0 0 1 0 0 SMPD3 55512 broad.mit.edu 37 16 68404800 68404800 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:68404800C>T ENST00000219334.5 - 3 1888 c.1285G>A c.(1285-1287)Gac>Aac p.D429N SMPD3_ENST00000563226.1_Missense_Mutation_p.D429N|SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000568373.1_Missense_Mutation_p.D429N NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 429 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) AGGGCATCGTCGTTACACTTG 0.592000 13 30 0 0 1 0 0 NPBWR1 2831 broad.mit.edu 37 8 53853378 53853378 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:53853378C>T ENST00000331251.3 + 1 2388 c.911C>T c.(910-912)cCc>cTc p.P304L NM_005285.3 NP_005276.2 P48145 NPBW1_HUMAN neuropeptides B/W receptor 1 304 synaptic transmission plasma membrane opioid receptor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2) 17 Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431) TGCCTCAACCCCTTCCTCTAC 0.652000 15 40 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175493 140175493 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:140175493C>T ENST00000526136.1 + 1 944 c.944C>T c.(943-945)tCc>tTc p.S315F PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.S315F|PCDHA2_ENST00000378132.1_Missense_Mutation_p.S315F NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGCAAAGTCCTACGAGATT 0.393000 21 50 0 0 1 0 0 IFRD2 7866 broad.mit.edu 37 3 50330257 50330257 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:50330257C>T ENST00000336089.4 - 2 47 c.48G>A c.(46-48)gaG>gaA p.E16E IFRD2_ENST00000436390.1_5'UTR Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 228 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) ACAGCCAAACCTCAGGCAGTG 0.537000 18 58 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45387155 45387155 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:45387155G>A ENST00000389039.6 - 32 4759 c.4374C>T c.(4372-4374)ttC>ttT p.F1458F DUOX2_ENST00000603300.1_Silent_p.F1458F Q9NRD8 DUOX2_HUMAN dual oxidase 2 1458 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) TCCTGAGGTCGAACTTCTCAG 0.587000 23 62 0 0 1 0 0 KCNJ15 3772 broad.mit.edu 37 21 39672267 39672267 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr21:39672267G>A ENST00000398930.1 + 4 1438 c.1084G>A c.(1084-1086)Gaa>Aaa p.E362K KCNJ15_ENST00000398938.2_Missense_Mutation_p.E362K|KCNJ15_ENST00000398932.1_Missense_Mutation_p.E362K|KCNJ15_ENST00000398934.1_Missense_Mutation_p.E362K|KCNJ15_ENST00000328656.3_Missense_Mutation_p.E362K Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 362 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 GGATCAGAGGGAAAGAGAACT 0.468000 18 69 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104092971 104092971 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:104092971C>T ENST00000388887.2 + 34 3884 c.3680C>T c.(3679-3681)tCc>tTc p.S1227F NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1227 FAS1 4. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CTGGGTTTCTCCTATTTCCTT 0.483000 17 44 0 0 1 0 0 SCAF8 22828 broad.mit.edu 37 6 155153624 155153624 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:155153624C>T ENST00000367178.3 + 20 3487 c.2911C>T c.(2911-2913)Cct>Tct p.P971S SCAF8_ENST00000367186.4_Missense_Mutation_p.P1037S|SCAF8_ENST00000417268.1_Missense_Mutation_p.P971S NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 971 Pro-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 TGGACCTTTTCCTCCAGGAGA 0.463000 65 156 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152325397 152325397 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:152325397C>T ENST00000388718.5 - 3 4937 c.4865G>A c.(4864-4866)gGa>gAa p.G1622E FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1622 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTATCTGTCCATGAGTAGT 0.507000 118 388 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156811480 156811480 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:156811480G>A ENST00000368195.3 - 20 3900 c.3504C>T c.(3502-3504)atC>atT p.I1168I NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1168 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGGTGGTGAAGATCCCATCTT 0.647000 33 66 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90020670 90020670 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:90020670C>T ENST00000405460.2 + 46 9866 c.9770C>T c.(9769-9771)tCc>tTc p.S3257F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3257 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GTTGTGTTTTCCGTATTTCAA 0.289000 32 84 0 0 1 0 0 POLN 353497 broad.mit.edu 37 4 2195030 2195030 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:2195030G>A ENST00000511885.2 - 7 1275 c.922C>T c.(922-924)Caa>Taa p.Q308* POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Nonsense_Mutation_p.Q308* Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 308 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) TTCATTGTTTGAAATAGCACG 0.328000 DNA polymerases (catalytic subunits) 12 37 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95481126 95481126 + RNA SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:95481126C>T ENST00000432432.2 - 0 2234 NR_040113.1 TCTTTCATTTCCTGTGTTTGC 0.363000 46 159 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135429699 135429699 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:135429699C>T ENST00000394143.1 + 6 4125 c.3834C>T c.(3832-3834)tcC>tcT p.S1278S GPR112_ENST00000370652.1_Silent_p.S1278S|GPR112_ENST00000412101.1_Silent_p.S1073S|GPR112_ENST00000394141.1_Silent_p.S1073S|GPR112_ENST00000287534.4_Silent_p.S1215S NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1278 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) CAGAAATGTCCCCATCAAAGA 0.433000 34 61 0 0 1 0 0 KRT9 3857 broad.mit.edu 37 17 39723916 39723916 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:39723916C>T ENST00000246662.4 - 7 1546 c.1481G>A c.(1480-1482)gGa>gAa p.G494E KRT9_ENST00000588431.1_Missense_Mutation_p.G261E NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 494 Tail. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) atagctgcctccacttcctcc 0.557000 6 20 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154159268 154159268 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:154159268C>T ENST00000360256.4 - 14 2997 c.2797G>A c.(2797-2799)Gat>Aat p.D933N NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 933 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AATTGACTATCATAATGAACT 0.378000 35 38 0 0 1 0 0 UGT1A6 54578 broad.mit.edu 37 2 234601738 234601738 + Missense_Mutation SNP C C A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:234601738C>A ENST00000305139.6 + 1 227 c.88C>A c.(88-90)Ctg>Atg p.L30M UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) TGACAAGCTGCTGGTGGTCCC 0.507000 32 89 1.06801e-11 1.08441e-11 1 1 0 XIRP1 165904 broad.mit.edu 37 3 39227580 39227580 + Splice_Site SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:39227580C>T ENST00000396251.1 - 2 3587 c.3357_splice c.e2+1 p.K1119_splice XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000340369.3_Silent_p.K1119K NM_001198621.1 NP_001185550.1 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1119 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CCCTACTGACCTTTCTGGGGG 0.602000 28 96 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30701991 30701991 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:30701991G>A ENST00000256246.2 - 1 4617 c.4543C>T c.(4543-4545)Cat>Tat p.H1515Y NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1515 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GTGCTCAGATGGGAATCAATC 0.343000 55 144 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13830949 13830949 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:13830949C>T ENST00000284951.5 - 19 1909 c.1835G>A c.(1834-1836)aGa>aAa p.R612K SEL1L2_ENST00000378072.5_Missense_Mutation_p.R499K|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 612 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 GTACAATCTTCTGGCCAAGTG 0.448000 22 65 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1093735 1093735 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:1093735C>T ENST00000441003.2 + 30 5581 c.5554C>T c.(5554-5556)Cct>Tct p.P1852S MUC2_ENST00000333592.6_Missense_Mutation_p.P140S|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1855 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CACATCCAATCCTCCGCCTGA 0.602000 56 255 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109804975 109804975 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:109804975G>A ENST00000271332.3 + 6 4514 c.4453G>A c.(4453-4455)Gat>Aat p.D1485N NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1485 Laminin G-like 1. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GGTGACCGTGGATGGCTGTGA 0.617000 37 27 0 0 1 0 0 CABS1 85438 broad.mit.edu 37 4 71201872 71201872 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:71201872G>A ENST00000273936.4 + 1 1175 c.1116G>A c.(1114-1116)aaG>aaA p.K372K NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 372 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CAGACTATAAGGAAGACACCT 0.383000 31 70 0 0 1 0 0 COCH 1690 broad.mit.edu 37 14 31348049 31348049 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:31348049G>A ENST00000396618.3 + 5 328 c.272G>A c.(271-273)cGa>cAa p.R91Q COCH_ENST00000460581.2_5'UTR|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.R91Q|COCH_ENST00000475087.1_Missense_Mutation_p.R91Q NM_004086.2 NP_004077.1 O43405 COCH_HUMAN cochlin 91 LCCL. sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) GGACCTGTACGAGTCTATAGC 0.458000 31 77 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67047236 67047236 + Missense_Mutation SNP A A T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:67047236A>T ENST00000315962.4 + 3 726 c.353A>T c.(352-354)aAa>aTa p.K118I TRIM55_ENST00000353317.5_Missense_Mutation_p.K118I|TRIM55_ENST00000350034.4_Missense_Mutation_p.K118I|TRIM55_ENST00000276573.7_Missense_Mutation_p.K118I NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 118 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) CCAGAAAAGAAATCCGACCAG 0.512000 23 37 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115258745 115258745 + Missense_Mutation SNP C C G rs121434595 TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:115258745C>G ENST00000369535.4 - 2 290 c.37G>C c.(37-39)Ggt>Cgt p.G13R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 13 G -> D (in a patient with an autoimmune lymphoproliferative disorder).|G -> R (in colorectal cancer). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.G13R(76)|p.G13C(23)|p.G13S(5)|p.G13N(1)|p.G13Y(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCCCAACACCACCTGCTCCA 0.498000 G13R(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 50 92 0 0 1 0 0 FCHO1 23149 broad.mit.edu 37 19 17886797 17886797 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:17886797G>A ENST00000594202.1 + 16 1288 c.1009G>A c.(1009-1011)Gcc>Acc p.A337T FCHO1_ENST00000597512.1_Missense_Mutation_p.A344T|FCHO1_ENST00000252771.7_Missense_Mutation_p.A337T|FCHO1_ENST00000389133.4_Missense_Mutation_p.A337T|FCHO1_ENST00000596951.1_Missense_Mutation_p.A337T|FCHO1_ENST00000600676.1_Missense_Mutation_p.A337T|FCHO1_ENST00000539407.1_Missense_Mutation_p.A337T|FCHO1_ENST00000596536.1_Missense_Mutation_p.A337T|FCHO1_ENST00000595033.1_Missense_Mutation_p.A287T NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 337 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 CCCACGCACGGCCGAGCCCTC 0.627000 OREG0025349 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 62 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347291 71347291 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:71347291C>T ENST00000413702.1 + 4 1118 c.830C>T c.(829-831)cCa>cTa p.P277L MUC7_ENST00000304887.5_Missense_Mutation_p.P277L|MUC7_ENST00000456088.1_Missense_Mutation_p.P277L NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 277 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) GCCTCAGCTCCACCAGAGACC 0.582000 65 220 0 0 1 0 0 SSX6 280657 broad.mit.edu 37 X 47969370 47969370 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:47969370G>A ENST00000376932.2 + 2 81 c.7G>A c.(7-9)Gga>Aga p.G3R SSX6_ENST00000319275.3_5'UTR large_intestine(6)|lung(4)|skin(2)|stomach(1) 13 TGCCATGAACGGAGACGACGC 0.567000 34 58 0 0 1 0 0 LRRC6 23639 broad.mit.edu 37 8 133650317 133650317 + Missense_Mutation SNP T T A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:133650317T>A ENST00000519595.1 - 4 391 c.293A>T c.(292-294)aAt>aTt p.N98I LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.N98I|LRRC6_ENST00000518642.1_Missense_Mutation_p.N98I Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 98 cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TCCAATGAAATTCACAGTCAG 0.403000 19 59 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204022527 204022527 + Missense_Mutation SNP A A G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:204022527A>G ENST00000449802.1 + 35 5939 c.5606A>G c.(5605-5607)gAt>gGt p.D1869G NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 1869 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CCTGAAGAGGATATAACAGCT 0.333000 32 71 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658175 72658175 + RNA SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:72658175G>A ENST00000425256.1 - 0 1736 NR_002164.1 agcacagagtgatttcggatg 0.502000 58 106 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50054462 50054462 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:50054462C>T ENST00000376042.1 + 6 3591 c.3293C>T c.(3292-3294)cCt>cTt p.P1098L CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.P1098L|CCNB3_ENST00000348603.2_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 1098 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) TCTGATAAACCTGTCTCACCA 0.473000 27 26 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165997345 165997345 + Missense_Mutation SNP A A T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:165997345A>T ENST00000360093.3 - 13 2326 c.1835T>A c.(1834-1836)tTt>tAt p.F612Y SCN3A_ENST00000409101.3_Missense_Mutation_p.F612Y|SCN3A_ENST00000283254.7_Missense_Mutation_p.F612Y NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 612 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) GTGCGGCACAAACAGTGAGTC 0.498000 23 53 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13841188 13841188 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:13841188G>A ENST00000265104.4 - 34 5640 c.5536C>T c.(5536-5538)Ctt>Ttt p.L1846F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1846 Stem (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) GCATTTCTAAGGGCTTCTTCT 0.368000 Kartagener syndrome 20 62 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76423318 76423318 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr13:76423318C>T ENST00000357063.3 + 28 5670 c.4410C>T c.(4408-4410)atC>atT p.I1470I LMO7_ENST00000526202.1_Silent_p.I1062I|LMO7_ENST00000377534.3_Silent_p.I1470I|LMO7_ENST00000321797.8_Silent_p.I1185I|LMO7_ENST00000465261.2_Silent_p.I1185I|LMO7_ENST00000341547.4_Silent_p.I1136I Q8WWI1 LMO7_HUMAN LIM domain 7 1470 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) GGCAACAAATCCTTCAGGAAA 0.453000 20 39 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61761046 61761046 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:61761046G>A ENST00000577390.1 - 9 2442 c.1488C>T c.(1486-1488)ttC>ttT p.F496F CDH8_ENST00000584337.1_Silent_p.F496F|CDH8_ENST00000577730.1_Silent_p.F496F|CDH8_ENST00000299345.6_Silent_p.F496F NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 496 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.F496F(1) biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ATTCGGATGCGAATTCAGGGG 0.398000 49 119 0 0 1 0 0 CXXC5 51523 broad.mit.edu 37 5 139060330 139060330 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:139060330C>T ENST00000302517.3 + 2 936 c.222C>T c.(220-222)cgC>cgT p.R74R CXXC5_ENST00000511048.1_Silent_p.R74R NM_016463.7 NP_057547.5 Q7LFL8 CXXC5_HUMAN CXXC finger protein 5 74 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGCCTGCGCCGCTCCCGCC 0.642000 31 87 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 37903742 37903742 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:37903742G>A ENST00000261439.4 + 2 381 c.26G>A c.(25-27)aGg>aAg p.R9K TBC1D1_ENST00000508802.1_Missense_Mutation_p.R9K|TBC1D1_ENST00000402522.1_Missense_Mutation_p.R9K NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 9 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TTCACAGCAAGGAAACATCTG 0.488000 42 107 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204943419 204943419 + Splice_Site SNP G G T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:204943419G>T ENST00000367172.4 + 13 1719 c.e13+1 NFASC_ENST00000403080.1_Splice_Site|NFASC_ENST00000401399.1_Splice_Site|NFASC_ENST00000404076.1_Splice_Site|NFASC_ENST00000539706.1_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000338586.6_Splice_Site|NFASC_ENST00000360049.4_Splice_Site|NFASC_ENST00000404907.1_Splice_Site|NFASC_ENST00000367169.4_Splice_Site|NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000338515.6_Splice_Site|NFASC_ENST00000513543.1_Splice_Site O94856 NFASC_HUMAN neurofascin axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CACTGCGATGGTAAGTTCCAG 0.562000 10 23 4.68919e-08 4.73845e-08 1 1 0 DPY19L4 286148 broad.mit.edu 37 8 95778881 95778881 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:95778881C>T ENST00000414645.2 + 11 1242 c.1143C>T c.(1141-1143)ttC>ttT p.F381F NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 381 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) TGCTGAAATTCCTTGAAGTAA 0.303000 8 29 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17046507 17046507 + RNA SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:17046507G>A ENST00000492551.1 - 0 145 NR_026567.1 GTCTCCTTTGGCTGCAGCGTA 0.622000 26 59 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119462855 119462855 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:119462855G>A ENST00000273390.5 + 14 1791 c.1714G>A c.(1714-1716)Gaa>Aaa p.E572K NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 GGCCGGACTGGAAGGAAGGGC 0.458000 22 57 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89981753 89981753 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:89981753G>A ENST00000405460.2 + 29 6527 c.6431G>A c.(6430-6432)gGa>gAa p.G2144E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2144 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACTAGAACAGGAGGAGCATTT 0.418000 8 17 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33634975 33634975 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr13:33634975G>A ENST00000380099.3 + 4 1767 c.1759G>A c.(1759-1761)Gaa>Aaa p.E587K KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 587 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TTTACTCCAGGAAATGCACGT 0.502000 41 105 0 0 1 0 0 PRKAR1B 5575 broad.mit.edu 37 7 720202 720202 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:720202G>A ENST00000406797.1 - 3 513 c.339C>T c.(337-339)taC>taT p.Y113Y PRKAR1B_ENST00000544935.1_Silent_p.Y113Y|PRKAR1B_ENST00000537384.1_Silent_p.Y113Y|PRKAR1B_ENST00000360274.4_Silent_p.Y113Y|PRKAR1B_ENST00000403562.1_Silent_p.Y113Y NM_001164761.1 NP_001158233.1 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type I, beta 113 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1) 17 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) CCTTCCTGACGTAGGACACGG 0.697000 17 22 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82586111 82586111 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:82586111C>T ENST00000423517.2 - 5 4495 c.4158G>A c.(4156-4158)aaG>aaA p.K1386K PCLO_ENST00000333891.8_Silent_p.K1386K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1317 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGAGAATATCCTTTTCATCAG 0.428000 16 44 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148865248 148865248 + Missense_Mutation SNP C C T rs139892427 TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:148865248C>T ENST00000367467.3 + 18 3117 c.2642C>T c.(2641-2643)cCc>cTc p.P881L NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 881 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) AAGGCCCAGCCCCTGGAGCAA 0.537000 45 203 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13871781 13871781 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:13871781G>A ENST00000265104.4 - 23 3594 c.3490C>T c.(3490-3492)Ccc>Tcc p.P1164S CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1164 Stem (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) GAAAGCAAGGGGCTCTGTGTA 0.398000 Kartagener syndrome 20 45 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108409770 108409770 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:108409770G>A ENST00000265843.4 - 3 534 c.424C>T c.(424-426)Cca>Tca p.P142S EXPH5_ENST00000428840.1_Missense_Mutation_p.P66S|EXPH5_ENST00000525344.1_Missense_Mutation_p.P135S NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 142 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CCCAGTGATGGAAGCTTTGAA 0.443000 63 47 0 0 1 0 0 GPR161 23432 broad.mit.edu 37 1 168073917 168073917 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:168073917G>A ENST00000367838.1 - 4 485 c.172C>T c.(172-174)Ctc>Ttc p.L58F GPR161_ENST00000271357.5_Missense_Mutation_p.L58F|GPR161_ENST00000546300.1_Intron|GPR161_ENST00000537209.1_Missense_Mutation_p.L78F|GPR161_ENST00000361697.2_Missense_Mutation_p.L58F|GPR161_ENST00000367835.1_Missense_Mutation_p.L58F|GPR161_ENST00000367836.1_Intron|GPR161_ENST00000539777.1_Intron NM_001267611.1|NM_153832.2 NP_001254540.1|NP_722561.1 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 58 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) AGGGTGAGGAGGTAGGACTTC 0.532000 41 94 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139606407 139606407 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:139606407C>T ENST00000303045.6 - 63 4914 c.4468G>A c.(4468-4470)Gcg>Acg p.A1490T COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.A1470T NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1490 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TTCATGTACGCCGGGGGCATC 0.597000 HNSCC(7;0.00092) 18 40 0 0 1 0 0 LARS 51520 broad.mit.edu 37 5 145500038 145500038 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:145500038G>A ENST00000394434.2 - 31 3387 c.3221C>T c.(3220-3222)cCc>cTc p.P1074L LARS_ENST00000510191.1_Missense_Mutation_p.P1020L|LARS_ENST00000274562.9_Missense_Mutation_p.P1047L|LARS_ENST00000545646.1_Missense_Mutation_p.P1028L NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 1074 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) GGATGGCTGGGGATTCACCAG 0.413000 38 88 0 0 1 0 0 HLCS 3141 broad.mit.edu 37 21 38309461 38309461 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr21:38309461G>A ENST00000399120.1 - 5 1514 c.284C>T c.(283-285)cCc>cTc p.P95L HLCS_ENST00000336648.3_Missense_Mutation_p.P95L NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 95 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) ATGCTCAACGGGGCCCCCTCC 0.547000 29 50 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89953743 89953743 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:89953743G>A ENST00000405460.2 + 21 4496 c.4400G>A c.(4399-4401)gGa>gAa p.G1467E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1467 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTGAGAATTGGAGCAGGGATA 0.403000 22 56 0 0 1 0 0 RPGR 6103 broad.mit.edu 37 X 38146056 38146056 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:38146056C>T ENST00000378505.2 - 15 2372 c.2196G>A c.(2194-2196)gaG>gaA p.E732E RPGR_ENST00000342811.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Intron NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 718 Glu-rich. intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 catgctcctcctcccctccct 0.537000 3 8 0 0 1 0 0 GNAT3 346562 broad.mit.edu 37 7 80091888 80091888 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:80091888C>T ENST00000398291.3 - 6 743 c.650G>A c.(649-651)gGa>gAa p.G217E CD36_ENST00000435819.1_Intron NM_001102386.1 NP_001095856.1 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha transducing 3 217 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1) 9 GCATGTAACTCCTTCAAAGCA 0.378000 22 40 0 0 1 0 0 R3HDM2 22864 broad.mit.edu 37 12 57650227 57650227 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:57650227G>A ENST00000402412.1 - 22 2907 c.2517C>T c.(2515-2517)ctC>ctT p.L839L R3HDM2_ENST00000413953.2_Silent_p.L552L|R3HDM2_ENST00000393811.2_Silent_p.L552L|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000403821.2_Silent_p.L859L|R3HDM2_ENST00000441731.2_Silent_p.L520L|R3HDM2_ENST00000347140.3_Silent_p.L825L|R3HDM2_ENST00000358907.2_Silent_p.L825L Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 825 nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 ACTGGCCATGGAGCAAGGGAG 0.542000 6 12 0 0 1 0 0 PSMC1 5700 broad.mit.edu 37 14 90730042 90730042 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:90730042C>T ENST00000261303.8 + 5 419 c.316C>T c.(316-318)Ccg>Tcg p.P106S PSMC1_ENST00000543772.2_Missense_Mutation_p.P33S NM_002802.2 NP_002793.2 P62191 PRS4_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 1 106 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding endometrium(2)|kidney(2)|upper_aerodigestive_tract(2) 6 all_cancers(154;0.142) COAD - Colon adenocarcinoma(157;0.21) GAGGGGGACCCCGATGTCAGT 0.433000 22 70 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56019909 56019909 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:56019909G>A ENST00000303059.3 + 1 234 c.234G>A c.(232-234)ttG>ttA p.L78L NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TGGTTGTGTTGGTCATTGAGG 0.378000 29 71 0 0 1 0 0 KLF6 1316 broad.mit.edu 37 10 3823908 3823908 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:3823908G>A ENST00000497571.1 - 2 861 c.601C>T c.(601-603)Cgg>Tgg p.R201W KLF6_ENST00000469435.1_Missense_Mutation_p.R201W|KLF6_ENST00000173785.4_Intron|KLF6_ENST00000542957.1_Missense_Mutation_p.R201W NM_001160124.1|NM_001300.5 NP_001153596.1|NP_001291.3 Q99612 KLF6_HUMAN Kruppel-like factor 6 201 B cell differentiation nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Colorectal(1;0.238) AAGTGGCACCGGTGCACCCTC 0.647000 OREG0019980 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 62 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117609813 117609813 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:117609813C>T ENST00000368508.3 - 43 7084 c.6886G>A c.(6886-6888)Gaa>Aaa p.E2296K ROS1_ENST00000368507.3_Missense_Mutation_p.E2290K NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 2296 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity p.E2296K(2) TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GATTCAGATTCCTGGGAGCCT 0.453000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 23 58 0 0 1 0 0 TMEM74 157753 broad.mit.edu 37 8 109796603 109796603 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:109796603C>T ENST00000297459.3 - 2 903 c.725G>A c.(724-726)gGg>gAg p.G242E TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 242 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) GATGACGCCCCCCAGCGTGAG 0.587000 24 62 0 0 1 0 0 ERI2 112479 broad.mit.edu 37 16 20810648 20810648 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:20810648G>A ENST00000564349.1 - 9 865 c.390C>T c.(388-390)gcC>gcT p.A130A ERI2_ENST00000563117.1_Silent_p.A130A|ERI2_ENST00000357967.4_Silent_p.A223A|ERI2_ENST00000389345.5_5'UTR|ERI2_ENST00000569729.1_Silent_p.A223A|ERI2_ENST00000300005.3_Silent_p.A223A A8K979 ERI2_HUMAN ERI1 exoribonuclease family member 2 223 Exonuclease. intracellular exonuclease activity|nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2) 11 AAGCAAGAAGGGCAGTATTCC 0.358000 29 78 0 0 1 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65197525 65197525 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:65197525C>T ENST00000247226.7 + 4 715 c.407C>T c.(406-408)gCc>gTc p.A136V PLEKHG3_ENST00000394691.1_Missense_Mutation_p.A192V NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 192 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) AGCTCCGTGGCCGCCCTGACG 0.642000 9 34 0 0 1 0 0 SCLY 51540 broad.mit.edu 37 2 239006844 239006844 + Splice_Site SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:239006844C>T ENST00000254663.6 + 12 1352 c.1208_splice c.e12-1 p.P404_splice SCLY_ENST00000555827.1_Splice_Site_p.P396_splice|SCLY_ENST00000429612.2_Splice_Site_p.P190_splice|SCLY_ENST00000422984.2_Splice_Site_p.P302_splice NM_016510.5 NP_057594.4 Q96I15 SCLY_HUMAN selenocysteine lyase 396 cellular amino acid metabolic process cytosol pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 22 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) CCTCCCCAGGCCGTCCCCAGT 0.697000 9 17 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15739209 15739209 + RNA SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:15739209G>A ENST00000441682.2 + 0 1274 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 CTGCACCCAGGACGTGGTGCT 0.667000 47 110 0 0 1 0 0 LRRC34 151827 broad.mit.edu 37 3 169525457 169525457 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:169525457G>A ENST00000522526.2 - 3 735 c.298C>T c.(298-300)Cgc>Tgc p.R100C LRRC34_ENST00000316515.7_Missense_Mutation_p.R87C|LRRC34_ENST00000522830.1_Missense_Mutation_p.R39C|LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000446859.1_Missense_Mutation_p.R100C Q8IZ02 LRC34_HUMAN leucine rich repeat containing 34 87 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2) 10 all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) GGCACTAAGCGATTGTTACCA 0.294000 8 38 0 0 1 0 0 CCDC30 728621 broad.mit.edu 37 1 43119576 43119576 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:43119576G>A ENST00000428554.2 + 23 3372 c.2229G>A c.(2227-2229)aaG>aaA p.K743K CCDC30_ENST00000390640.4_Silent_p.K532K|CCDC30_ENST00000507855.1_Silent_p.K532K|CCDC30_ENST00000342022.4_Silent_p.K743K|CCDC30_ENST00000340612.4_Silent_p.K743K Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 743 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 CAAGTTCAAAGTCCCCTGAAA 0.403000 27 61 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179604201 179604201 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:179604201C>T ENST00000589042.1 - 48 13983 c.13759G>A c.(13759-13761)Gag>Aag p.E4587K TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4349K|TTN_ENST00000342175.6_Missense_Mutation_p.E4416K|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E4270K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4224K|TTN-AS1_ENST00000590773.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4270 Ig-like 26. 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) GTAGCAACCTCCTCAGTACCA 0.453000 20 76 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103306741 103306741 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:103306741C>T ENST00000375735.2 + 85 12581 c.12437C>T c.(12436-12438)gCc>gTc p.A4146V DYNC2H1_ENST00000398093.3_Missense_Mutation_p.A4153V|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.A759V NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 4146 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GGTCTTGTTGCCCGTGCCCTT 0.418000 13 14 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76023211 76023211 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:76023211G>A ENST00000393004.2 - 5 2558 c.2337C>T c.(2335-2337)tcC>tcT p.S779S FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.S680S|FILIP1_ENST00000237172.7_Silent_p.S779S Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 779 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TGTAGCGCTTGGAAAGCTCCA 0.443000 54 103 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62302497 62302497 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:62302497G>A ENST00000378024.4 - 4 594 c.320C>T c.(319-321)tCc>tTc p.S107F AHNAK_ENST00000257247.7_Missense_Mutation_p.S107F|AHNAK_ENST00000530124.1_Missense_Mutation_p.S107F NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 107 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) AGAGCTGCAGGAGCTGAAGAC 0.667000 17 38 0 0 1 0 0 ART3 419 broad.mit.edu 37 4 77003191 77003191 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:77003191G>A ENST00000355810.4 + 3 403 c.284G>A c.(283-285)gGa>gAa p.G95E ART3_ENST00000349321.3_Missense_Mutation_p.G95E|ART3_ENST00000341029.5_Missense_Mutation_p.G95E|ART3_ENST00000513494.1_3'UTR NM_001130016.2 NP_001123488.1 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 95 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GATAACCATGGAATAGCCCTG 0.438000 31 93 0 0 1 0 0 GAP43 2596 broad.mit.edu 37 3 115395143 115395143 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:115395143G>A ENST00000393780.3 + 3 890 c.422G>A c.(421-423)gGa>gAa p.G141E GAP43_ENST00000305124.6_Missense_Mutation_p.G105E NM_001130064.1 NP_001123536.1 P17677 NEUM_HUMAN growth associated protein 43 105 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) GGCAAAGCAGGAGAAACTCCT 0.637000 25 37 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150171112 150171112 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:150171112G>A ENST00000307271.3 + 4 1269 c.695G>A c.(694-696)aGg>aAg p.R232K NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 232 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CCAAGGGAAAGGCAGCTGCAG 0.527000 32 90 0 0 1 0 0 ATP6V1C2 245973 broad.mit.edu 37 2 10866644 10866644 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:10866644C>T ENST00000381661.3 + 3 255 c.146C>T c.(145-147)tCc>tTc p.S49F ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.S49F NM_144583.3 NP_653184.2 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 49 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) ACCTTGGATTCCCTGGTTGGC 0.458000 25 53 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34962223 34962223 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:34962223G>A ENST00000329357.5 + 1 1311 c.1275G>A c.(1273-1275)ccG>ccA p.P425P NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 425 p.P425P(1) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GTCTCTGCCCGGAGCCTACCA 0.547000 38 54 0 0 1 0 0 NEU4 129807 broad.mit.edu 37 2 242755860 242755860 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:242755860C>T ENST00000391969.2 + 3 890 c.179C>T c.(178-180)aCg>aTg p.T60M NEU4_ENST00000405370.1_Missense_Mutation_p.T60M|NEU4_ENST00000407683.1_Missense_Mutation_p.T60M|NEU4_ENST00000325935.6_Missense_Mutation_p.T73M|NEU4_ENST00000404257.1_Missense_Mutation_p.T72M NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 60 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 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;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-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;0.0825) AGGAGGGGCACGCTGGCCGGG 0.746000 4 7 0 0 1 0 0 ATG9B 285973 broad.mit.edu 37 7 150721039 150721039 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:150721039C>T ENST00000605938.1 - 1 547 c.472G>A c.(472-474)Gac>Aac p.D158N ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.D158N|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605952.1_Missense_Mutation_p.D158N NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 158 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCTCAGGGTCACAGTCCTCC 0.632000 3 9 0 0 1 0 0 KCNC2 3747 broad.mit.edu 37 12 75434908 75434908 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:75434908C>T ENST00000341669.3 - 5 2402 c.1859G>A c.(1858-1860)gGa>gAa p.G620E KCNC2_ENST00000298972.1_3'UTR|RP11-81K13.1_ENST00000547040.1_RNA|RP11-81K13.1_ENST00000549762.1_RNA|KCNC2_ENST00000350228.2_3'UTR|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000548513.1_3'UTR|KCNC2_ENST00000549446.1_3'UTR|KCNC2_ENST00000550433.1_Missense_Mutation_p.G620E NM_001260498.1 NP_001247427.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 0 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 AAGTCTGTTTCCAGTATAGTC 0.433000 14 41 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20005705 20005705 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:20005705C>T ENST00000396085.1 + 11 3041 c.2680C>T c.(2680-2682)Cgt>Tgt p.R894C NAV2_ENST00000540292.1_Missense_Mutation_p.R848C|NAV2_ENST00000396087.3_Missense_Mutation_p.R917C|NAV2_ENST00000360655.4_Missense_Mutation_p.R830C|NAV2_ENST00000349880.4_Missense_Mutation_p.R894C|NAV2_ENST00000527559.2_Missense_Mutation_p.R846C NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 917 nucleus ATP binding|helicase activity p.R917S(1) NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CCTCTATACCCGTCGCCTGAA 0.532000 34 94 0 0 1 0 0 PSAPL1 768239 broad.mit.edu 37 4 7436358 7436358 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:7436358C>T ENST00000319098.4 - 1 342 c.249G>A c.(247-249)acG>acA p.T83T SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron NM_001085382.1 NP_001078851.1 Q6NUJ1 SAPL1_HUMAN prosaposin-like 1 (gene/pseudogene) 83 Saposin B-type 1. sphingolipid metabolic process extracellular region|lysosome lung(4) 4 TGTCAGACTCCGTGGCGTCAG 0.607000 8 22 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31685104 31685104 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr18:31685104G>A ENST00000261592.5 - 3 732 c.435C>T c.(433-435)ttC>ttT p.F145F NOL4_ENST00000589544.1_Silent_p.F145F|NOL4_ENST00000538587.1_Silent_p.F71F|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000269185.4_Silent_p.F31F NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 145 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 CTCTTGGTAGGAAGGCATAGC 0.383000 32 73 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78604228 78604228 + Missense_Mutation SNP A A T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:78604228A>T ENST00000397909.2 + 40 7262 c.7089A>T c.(7087-7089)caA>caT p.Q2363H NAV3_ENST00000228327.6_Missense_Mutation_p.Q2341H|NAV3_ENST00000541270.1_Missense_Mutation_p.Q193H|NAV3_ENST00000536525.2_Missense_Mutation_p.Q2341H|NAV3_ENST00000266692.7_Missense_Mutation_p.Q2164H Q8IVL0 NAV3_HUMAN neuron navigator 3 2363 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CGAGCACACAAAGCTGCGACA 0.413000 HNSCC(70;0.22) 18 56 0 0 1 0 0 EEF1G 1937 broad.mit.edu 37 11 62327225 62327225 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:62327225G>A ENST00000378019.3 - 10 1480 c.1390C>T c.(1390-1392)Cga>Tga p.R464* EEF1G_ENST00000329251.4_Nonsense_Mutation_p.R414*|MIR3654_ENST00000496634.2_3'UTR P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 gamma 414 response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AAGTACTCTCGAACCAGCGTC 0.547000 13 27 0 0 1 0 0 ARMS2 387715 broad.mit.edu 37 10 124214296 124214296 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:124214296G>A ENST00000528446.1 + 1 128 c.53G>A c.(52-54)gGg>gAg p.G18E NM_001099667.1 NP_001093137.1 P0C7Q2 ARMS2_HUMAN age-related maculopathy susceptibility 2 18 retina homeostasis mitochondrion|photoreceptor inner segment ovary(1) 1 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGGAAAGGAGGGCCTGAGATG 0.577000 34 97 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2039706 2039706 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr9:2039706C>T ENST00000382203.1 + 4 805 c.596C>T c.(595-597)cCc>cTc p.P199L SMARCA2_ENST00000357248.2_Missense_Mutation_p.P199L|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Missense_Mutation_p.P199L|SMARCA2_ENST00000349721.2_Missense_Mutation_p.P199L P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 199 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CAGCCCCTCCCCGAAACGCTG 0.582000 16 26 0 0 1 0 0 ATP11C 286410 broad.mit.edu 37 X 138857016 138857016 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chrX:138857016G>A ENST00000370557.1 - 19 3076 c.2049C>T c.(2047-2049)tcC>tcT p.S683S ATP11C_ENST00000327569.3_Silent_p.S686S|ATP11C_ENST00000361648.2_Silent_p.S686S|ATP11C_ENST00000370543.1_Silent_p.S686S|ATP11C_ENST00000359686.2_Silent_p.S686S|ATP11C_ENST00000460773.1_5'UTR Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 686 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) CATAGCATGTGGATTTAGCTG 0.478000 40 53 0 0 1 0 0 IFNAR2 3455 broad.mit.edu 37 21 34635309 34635309 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr21:34635309C>T ENST00000342136.4 + 9 1378 c.1052C>T c.(1051-1053)tCt>tTt p.S351F AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S351F P48551 INAR2_HUMAN interferon (alpha, beta and omega) receptor 2 351 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) GGTCAGGCCTCTGCCACCTCT 0.572000 40 65 0 0 1 0 0 HPS1 3257 broad.mit.edu 37 10 100177399 100177399 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:100177399G>A ENST00000325103.6 - 20 2258 c.2025C>T c.(2023-2025)atC>atT p.I675I HPS1_ENST00000361490.4_Silent_p.I675I|HPS1_ENST00000467246.1_5'UTR NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 675 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) GGTCAGTGGGGATGACAGACA 0.677000 Hermansky-Pudlak syndrome 7 35 0 0 1 0 0 PAM 5066 broad.mit.edu 37 5 102338740 102338740 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:102338740G>A ENST00000438793.3 + 16 2087 c.1617G>A c.(1615-1617)tcG>tcA p.S539S PAM_ENST00000304400.7_Silent_p.S539S|PAM_ENST00000348126.2_Silent_p.S432S|PAM_ENST00000274392.9_Silent_p.S442S|PAM_ENST00000346918.2_Silent_p.S539S|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000455264.2_Silent_p.S539S NM_000919.3|NM_001177306.1|NM_138766.2 NP_000910.2|NP_001170777.1|NP_620121.1 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 539 Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) TGTTTAGCTCGTTTGACAGCA 0.348000 11 31 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61559949 61559949 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:61559949C>T ENST00000290866.4 + 8 1265 c.1241C>T c.(1240-1242)cCc>cTc p.P414L ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.P414L|ACE_ENST00000428043.1_Missense_Mutation_p.P414L NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 414 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GGGGCCAACCCCGGCTTCCAT 0.597000 41 124 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432870 104432870 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr9:104432870C>T ENST00000361820.3 - 3 2424 c.1824G>A c.(1822-1824)tgG>tgA p.W608* NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 608 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GCCCATTTTTCCATGCTCCAT 0.483000 29 49 0 0 1 0 0 BPI 671 broad.mit.edu 37 20 36932730 36932730 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:36932730G>A ENST00000262865.4 + 1 206 c.117G>A c.(115-117)agG>agA p.R39R CTD-2308N23.2_ENST00000437016.1_RNA NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 39 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) TCGTGGTCAGGATCTCCCAGA 0.632000 28 44 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3678655 3678655 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:3678655G>A ENST00000344754.4 - 8 1911 c.1912C>T c.(1912-1914)Cac>Tac p.H638Y SIGLEC1_ENST00000202578.4_Missense_Mutation_p.H638Y NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 638 Ig-like C2-type 6. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CGGTCCTTGTGGAGCAGCTGC 0.672000 23 47 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207684981 207684981 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:207684981G>A ENST00000367049.4 + 4 469 c.469G>A c.(469-471)Gaa>Aaa p.E157K CR1_ENST00000367052.1_Missense_Mutation_p.E157K|CR1_ENST00000400960.2_Missense_Mutation_p.E157K|CR1_ENST00000367053.1_Missense_Mutation_p.E157K|CR1_ENST00000367051.1_Missense_Mutation_p.E157K|CR1_ENST00000367050.4_3'UTR NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 157 Sushi 2. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TTGGGATAATGAAACACCTAT 0.353000 16 61 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31367975 31367975 + Missense_Mutation SNP C C A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:31367975C>A ENST00000268296.4 + 3 294 c.173C>A c.(172-174)aCa>aAa p.T58K ITGAX_ENST00000562522.1_Missense_Mutation_p.T58K|ITGAX_ENST00000562918.1_3'UTR NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 58 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 CAAAAGATAACAGCTGCCAAC 0.607000 3 6 1 1 1 1 0 CCDC105 126402 broad.mit.edu 37 19 15132481 15132481 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:15132481G>A ENST00000292574.3 + 5 1177 c.1095G>A c.(1093-1095)acG>acA p.T365T NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 365 microtubule cytoskeleton organization microtubule p.T365T(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 TCCGGTGTACGAAATATAACC 0.592000 18 48 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7736843 7736843 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:7736843G>A ENST00000572933.1 + 86 14736 c.13276G>A c.(13276-13278)Gac>Aac p.D4426N DNAH2_ENST00000389173.2_Missense_Mutation_p.D4426N Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 4426 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) CATGAGCCTGGACAGCTGAGA 0.577000 15 49 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23858602 23858602 + Splice_Site SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:23858602C>T ENST00000405093.3 - 28 4048 c.3978_splice c.e28+1 p.K1326_splice MYH6_ENST00000356287.3_Splice_Site_p.K1326_splice NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1326 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TGGGCCTCACCTTGCCCTCCT 0.587000 27 81 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43547663 43547663 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:43547663G>A ENST00000395891.1 + 23 4404 c.3799G>A c.(3799-3801)Gtg>Atg p.V1267M HECW1_ENST00000453890.1_Missense_Mutation_p.V1233M NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1267 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CTTCAATCAGGTGATGGCCTA 0.532000 18 41 0 0 1 0 0 OR52N5 390075 broad.mit.edu 37 11 5799452 5799452 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:5799452G>A ENST00000317093.2 - 1 445 c.413C>T c.(412-414)cCt>cTt p.P138L TRIM5_ENST00000380027.1_Intron NM_001001922.2 NP_001001922.2 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, member 5 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) ATAACGCAAAGGGTAGCAAAT 0.512000 48 77 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45131562 45131562 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:45131562C>T ENST00000457685.2 - 6 1625 c.302G>A c.(301-303)gGa>gAa p.G101E ZNF334_ENST00000347606.4_Missense_Mutation_p.G139E|ZNF334_ENST00000593880.1_Missense_Mutation_p.G162E Q9HCZ1 ZN334_HUMAN zinc finger protein 334 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) ACTGTTTCCTCCTGGATTACA 0.353000 25 48 0 0 1 0 0 PAM 5066 broad.mit.edu 37 5 102361015 102361015 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:102361015G>A ENST00000438793.3 + 23 3136 c.2666G>A c.(2665-2667)tGg>tAg p.W889* PAM_ENST00000304400.7_Nonsense_Mutation_p.W889*|PAM_ENST00000348126.2_Nonsense_Mutation_p.W782*|PAM_ENST00000274392.9_Nonsense_Mutation_p.W791*|PAM_ENST00000346918.2_Intron|PAM_ENST00000379787.4_Nonsense_Mutation_p.W269*|PAM_ENST00000455264.2_Intron NM_000919.3|NM_001177306.1|NM_138766.2 NP_000910.2|NP_001170777.1|NP_620121.1 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 889 peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) TTTATTCGGTGGAAAAAATCA 0.473000 35 82 0 0 1 0 0 ULK1 8408 broad.mit.edu 37 12 132401997 132401997 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:132401997C>T ENST00000321867.4 + 22 2575 c.2224C>T c.(2224-2226)Cgt>Tgt p.R742C NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 742 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) CCCAGGAGCCCGTGCTGGGGG 0.706000 4 5 0 0 1 0 0 KATNAL2 83473 broad.mit.edu 37 18 44589357 44589357 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr18:44589357C>T ENST00000245121.5 + 6 542 c.348C>T c.(346-348)gaC>gaT p.D116D KATNAL2_ENST00000356157.7_Silent_p.D188D|KATNAL2_ENST00000592005.1_Intron NM_031303.2 NP_112593.2 Q8IYT4 KATL2_HUMAN katanin p60 subunit A-like 2 188 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 AAATCATTGACTTCCAAGGGC 0.443000 5 77 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88729587 88729587 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:88729587G>A ENST00000340700.5 - 2 797 c.346C>T c.(346-348)Cat>Tat p.H116Y KCNK10_ENST00000312350.5_Missense_Mutation_p.H121Y|KCNK10_ENST00000319231.5_Missense_Mutation_p.H121Y NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 116 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 ACACAGACATGATCCCGCAGG 0.577000 23 45 0 0 1 0 0 OR1C1 26188 broad.mit.edu 37 1 247921397 247921397 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:247921397G>A ENST00000408896.2 - 1 585 c.312C>T c.(310-312)ttC>ttT p.F104F NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CAAAAGAAACGAAGAAGAAGA 0.473000 43 53 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17370472 17370472 + Missense_Mutation SNP C C G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:17370472C>G ENST00000242057.4 + 6 1310 c.667C>G c.(667-669)Cgt>Ggt p.R223G NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 223 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) CTTCATATGTCGTCTAAGGTG 0.403000 19 41 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70954741 70954741 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:70954741C>T ENST00000393567.2 - 46 7688 c.7538G>A c.(7537-7539)aGa>aAa p.R2513K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2513 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) caggcgctctctctcccGGTC 0.711000 10 9 0 0 1 0 0 CCDC170 80129 broad.mit.edu 37 6 151894515 151894515 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:151894515G>A ENST00000367290.5 + 6 1070 c.981G>A c.(979-981)agG>agA p.R327R CCDC170_ENST00000239374.7_Silent_p.R327R Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 327 TCTCATTTAGGGAGAAAATCG 0.488000 19 49 0 0 1 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401009 11401009 + Silent SNP G G A rs139094851 TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:11401009G>A ENST00000002596.5 - 2 1795 c.621C>T c.(619-621)ttC>ttT p.F207F NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 207 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity p.F207F(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 GGCGCAGCGGGAAAAAGCGCA 0.597000 17 27 0 0 1 0 0 WDR91 29062 broad.mit.edu 37 7 134871868 134871868 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:134871868G>A ENST00000344400.5 - 13 1883 c.1822C>T c.(1822-1824)Ccc>Tcc p.P608S WDR91_ENST00000354475.4_Silent_p.L645L|WDR91_ENST00000423565.1_Silent_p.L610L A4D1P6 WDR91_HUMAN WD repeat domain 91 0 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 CATCTGAGGGGAGGCTGTACT 0.592000 31 84 0 0 1 0 0 LRP12 29967 broad.mit.edu 37 8 105510108 105510108 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:105510108G>A ENST00000276654.5 - 5 780 c.672C>T c.(670-672)tcC>tcT p.S224S LRP12_ENST00000424843.2_Silent_p.S205S NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 224 LDL-receptor class A 2. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TGGTAAAACGGGATAAACACT 0.448000 41 98 0 0 1 0 0 GLB1L2 89944 broad.mit.edu 37 11 134212670 134212670 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:134212670C>T ENST00000535456.2 + 2 297 c.109C>T c.(109-111)Cct>Tct p.P37S GLB1L2_ENST00000339772.7_Missense_Mutation_p.P37S|GLB1L2_ENST00000389881.3_Missense_Mutation_p.P37S NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 37 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CACCCTGGTCCCTCTGCGGCT 0.632000 17 48 0 0 1 0 0 LPO 4025 broad.mit.edu 37 17 56342326 56342326 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:56342326G>A ENST00000262290.4 + 10 1826 c.1510G>A c.(1510-1512)Gtc>Atc p.V504I LPO_ENST00000582328.1_Missense_Mutation_p.V421I|LPO_ENST00000421678.2_Missense_Mutation_p.V421I|LPO_ENST00000543544.1_Missense_Mutation_p.V445I NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 504 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 TTGGAGGATGGTCAAAGATGG 0.537000 16 60 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23907842 23907842 + Missense_Mutation SNP G G T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr13:23907842G>T ENST00000382298.3 - 10 10761 c.10173C>A c.(10171-10173)ttC>ttA p.F3391L SACS_ENST00000382292.3_Missense_Mutation_p.F3391L|SACS_ENST00000402364.1_Missense_Mutation_p.F2641L NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3391 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AATTGCAGTTGAAATACATCA 0.348000 32 86 1.06801e-11 1.08441e-11 1 1 0 PCK1 5105 broad.mit.edu 37 20 56137166 56137166 + Silent SNP C C T rs144697339 byFrequency TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:56137166C>T ENST00000319441.4 + 3 428 c.264C>T c.(262-264)atC>atT p.I88I PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Intron NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 88 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) TGGCCAGGATCGAAAGCAAGA 0.562000 16 46 0 0 1 0 0 HIPK4 147746 broad.mit.edu 37 19 40887038 40887038 + Missense_Mutation SNP G G A rs145519209 TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:40887038G>A ENST00000291823.2 - 3 1144 c.860C>T c.(859-861)tCg>tTg p.S287L NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 287 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) CTGGTCCAACGACTTGAGCAT 0.632000 20 53 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072006 17072006 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr22:17072006C>T ENST00000359963.3 - 1 1694 c.1435G>A c.(1435-1437)Ggt>Agt p.G479S NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 479 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GTTCCCACACCCATTAGGAGG 0.507000 52 136 0 0 1 0 0 XKR4 114786 broad.mit.edu 37 8 56435906 56435906 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:56435906G>A ENST00000327381.5 + 3 1173 c.1073G>A c.(1072-1074)cGg>cAg p.R358Q NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 358 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) AAGGCCCTCCGGGACTCTCGA 0.577000 25 54 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50900658 50900658 + Missense_Mutation SNP G G C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr22:50900658G>C ENST00000380817.2 - 19 2555 c.2372C>G c.(2371-2373)gCc>gGc p.A791G SBF1_ENST00000390679.3_Missense_Mutation_p.A791G|SBF1_ENST00000348911.6_Missense_Mutation_p.A792G NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 791 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GCTGTTGCTGGCGCTCTCCAG 0.667000 28 67 0 0 1 0 0 C10orf107 219621 broad.mit.edu 37 10 63520681 63520681 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:63520681G>A ENST00000330194.2 + 6 777 c.472G>A c.(472-474)Gat>Aat p.D158N NM_173554.2 NP_775825.1 Q8IVU9 CJ107_HUMAN chromosome 10 open reading frame 107 158 breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1) 8 Prostate(12;0.016) CTCAGACATGGATCCTTTAGT 0.403000 27 55 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215884364 215884364 + Missense_Mutation SNP C C T rs150321357 byFrequency TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:215884364C>T ENST00000272895.7 - 12 1663 c.1444G>A c.(1444-1446)Gaa>Aaa p.E482K ABCA12_ENST00000389661.4_Missense_Mutation_p.E164K NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 482 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GCTGCTATTTCGGTGCCCAGC 0.433000 24 54 0 0 1 0 0 SLC30A6 55676 broad.mit.edu 37 2 32400423 32400423 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:32400423C>T ENST00000282587.5 + 4 248 c.211C>T c.(211-213)Ctt>Ttt p.L71F SLC30A6_ENST00000357055.3_Intron|SLC30A6_ENST00000379343.2_Missense_Mutation_p.L71F|SLC30A6_ENST00000435660.1_Missense_Mutation_p.L71F|SLC30A6_ENST00000406369.1_Intron|SLC30A6_ENST00000538303.1_Missense_Mutation_p.L42F NM_017964.3 NP_060434.2 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), member 6 71 Golgi membrane|integral to membrane zinc ion transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CATTTTTGATCTTTTTAGGTA 0.313000 12 24 0 0 1 0 0 CCDC126 90693 broad.mit.edu 37 7 23682576 23682576 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr7:23682576C>T ENST00000307471.3 + 4 722 c.265C>T c.(265-267)Ctt>Ttt p.L89F CCDC126_ENST00000410069.1_Missense_Mutation_p.L89F|CCDC126_ENST00000409765.1_Missense_Mutation_p.L89F NM_138771.3 NP_620126.2 Q96EE4 CC126_HUMAN coiled-coil domain containing 126 89 extracellular region endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1) 7 AATTGCTGTCCTTCTGGATGA 0.378000 23 66 0 0 1 0 0 SLC18A2 6571 broad.mit.edu 37 10 119013973 119013973 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:119013973G>A ENST00000298472.5 + 6 808 c.665G>A c.(664-666)gGa>gAa p.G222E SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 222 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) AACGTCATGGGAATCGCCTTG 0.592000 13 46 0 0 1 0 0 EIF5B 9669 broad.mit.edu 37 2 99980236 99980236 + Missense_Mutation SNP A A G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:99980236A>G ENST00000289371.5 + 5 1250 c.1048A>G c.(1048-1050)Aag>Gag p.K350E NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 350 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AGCTCTGGCTAAGCTTAAAGA 0.373000 12 53 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120769326 120769326 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:120769326C>T ENST00000527524.2 + 12 1537 c.1250C>T c.(1249-1251)aCc>aTc p.T417I GRIK4_ENST00000438375.2_Missense_Mutation_p.T417I Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 417 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) TTCAACACCACCCTGGTCGTC 0.627000 7 30 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70332969 70332969 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:70332969G>A ENST00000338508.4 - 32 3431 c.3432C>T c.(3430-3432)tcC>tcT p.S1144S SHANK2_ENST00000449833.2_Silent_p.S548S|SHANK2_ENST00000423696.2_Silent_p.S764S|SHANK2_ENST00000409161.1_Silent_p.S547S Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 764 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TCGGCATGGGGGATGACAGCT 0.682000 38 22 0 0 1 0 0 OR6C70 390327 broad.mit.edu 37 12 55863664 55863664 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:55863664C>T ENST00000327335.4 - 1 258 c.259G>A c.(259-261)Gaa>Aaa p.E87K RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 ATGGTCTTTTCCCTGGTAACA 0.383000 24 68 0 0 1 0 0 ORAOV1 220064 broad.mit.edu 37 11 69482731 69482731 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:69482731G>A ENST00000279147.4 - 4 384 c.277C>T c.(277-279)Cct>Tct p.P93S ORAOV1_ENST00000536870.1_Missense_Mutation_p.P34S|ORAOV1_ENST00000535657.1_Missense_Mutation_p.P93S|ORAOV1_ENST00000539414.1_Missense_Mutation_p.P93S NM_153451.2 NP_703152.1 Q8WV07 ORAV1_HUMAN oral cancer overexpressed 1 93 NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) TCATCATAAGGGAATTTCTGG 0.413000 24 51 0 0 1 0 0 CIB4 130106 broad.mit.edu 37 2 26806663 26806663 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:26806663C>T ENST00000288861.4 - 5 485 c.432G>A c.(430-432)acG>acA p.T144T CIB4_ENST00000405346.3_5'UTR NM_001029881.1 NP_001025052.1 A0PJX0 CIB4_HUMAN calcium and integrin binding family member 4 144 EF-hand 3. calcium ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACACGTGGTTCGTGAGGTCCA 0.582000 26 71 0 0 1 0 0 MFSD1 64747 broad.mit.edu 37 3 158541955 158541955 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:158541955C>T ENST00000415822.2 + 13 1506 c.1365C>T c.(1363-1365)atC>atT p.I455I MFSD1_ENST00000392813.4_Silent_p.I416I|MFSD1_ENST00000264266.8_Silent_p.I406I NM_022736.2 NP_073573.2 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 1 406 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 26 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) TCATTTCCATCATTGCTGGTA 0.378000 125 339 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1926430 1926430 + Missense_Mutation SNP T T C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:1926430T>C ENST00000399161.2 - 10 1858 c.1111A>G c.(1111-1113)Acg>Gcg p.T371A MYT1L_ENST00000428368.2_Missense_Mutation_p.T371A NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 371 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CTGTCCGGCGTCCTTCCGGGG 0.602000 12 31 0 0 1 0 0 NEK11 79858 broad.mit.edu 37 3 130871272 130871272 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:130871272C>T ENST00000383366.4 + 8 981 c.688C>T c.(688-690)Cat>Tat p.H230Y NEK11_ENST00000508196.1_Missense_Mutation_p.H230Y|NEK11_ENST00000511262.1_Missense_Mutation_p.H230Y|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000510688.1_Missense_Mutation_p.H230Y|NEK11_ENST00000510769.1_Intron|NEK11_ENST00000412440.2_Missense_Mutation_p.H82Y|NEK11_ENST00000356918.4_Missense_Mutation_p.H230Y|NEK11_ENST00000507910.1_Missense_Mutation_p.H230Y|NEK11_ENST00000429253.2_Missense_Mutation_p.H230Y NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 230 Protein kinase. cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity p.H230D(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 CTGCATGAATCATGCATTCGC 0.343000 34 83 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53207919 53207919 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:53207919C>T ENST00000293774.4 - 1 416 c.146G>A c.(145-147)cGa>cAa p.R49Q KRT4_ENST00000551956.1_5'UTR B4DRS2 B4DRS2_HUMAN keratin 4 0 keratin filament structural molecule activity p.R49P(1) endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 CCTCAGCCTTCGTCTCTTATA 0.567000 23 57 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64595015 64595015 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:64595015G>A ENST00000342711.5 - 32 4133 c.4134C>T c.(4132-4134)ctC>ctT p.L1378L NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1378 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 GCTGGTTCCTGAGGTAGGTCA 0.662000 17 38 0 0 1 0 0 TXK 7294 broad.mit.edu 37 4 48088624 48088624 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:48088624G>A ENST00000264316.4 - 10 900 c.815C>T c.(814-816)gCt>gTt p.A272V NM_003328.2 NP_003319.2 P42681 TXK_HUMAN TXK tyrosine kinase 272 Protein kinase. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 CTTTATAAAAGCCAACTCAGA 0.403000 25 67 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156589810 156589810 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:156589810C>T ENST00000302938.4 - 2 1561 c.1466G>A c.(1465-1467)aGg>aAg p.R489K NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 489 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCGCTTGCCCCTTACGTTGCT 0.517000 36 137 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 184008945 184008945 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:184008945G>A ENST00000402825.3 + 17 2306 c.2306G>A c.(2305-2307)gGg>gAg p.G769E EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.G651E|ECE2_ENST00000357474.5_Missense_Mutation_p.G697E|ECE2_ENST00000359140.4_Missense_Mutation_p.G622E NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 769 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CAGGTCAATGGGGAGAGGCTC 0.617000 39 83 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7695570 7695570 + Splice_Site SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:7695570G>A ENST00000572933.1 + 46 8514 c.7053_splice c.e46-1 p.D2352_splice DNAH2_ENST00000389173.2_Splice_Site_p.D2352_splice Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2352 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) CCCTCCTTAGGACACGGTATA 0.522000 17 59 0 0 1 0 0 SCGB1D2 10647 broad.mit.edu 37 11 62010915 62010915 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:62010915C>T ENST00000244926.3 + 2 308 c.210C>T c.(208-210)tcC>tcT p.S70S RP11-703H8.9_ENST00000529875.1_RNA NM_006551.3 NP_006542.1 O95969 SG1D2_HUMAN secretoglobin, family 1D, member 2 70 extracellular space binding breast(1)|endometrium(1)|lung(1) 3 ATCAGATGTCCCTTCAGAAAC 0.463000 38 92 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182360570 182360570 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:182360570G>A ENST00000397033.2 + 14 1876 c.1446G>A c.(1444-1446)acG>acA p.T482T NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 482 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TAAATAGAACGAAATTTGACT 0.388000 38 103 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2690858 2690858 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:2690858C>T ENST00000399655.1 + 14 2263 c.1998C>T c.(1996-1998)tcC>tcT p.S666S CACNA1C_ENST00000399603.1_Silent_p.S666S|CACNA1C_ENST00000402845.3_Silent_p.S666S|CACNA1C_ENST00000399591.1_Silent_p.S666S|CACNA1C_ENST00000344100.3_Silent_p.S666S|CACNA1C_ENST00000335762.5_Silent_p.S691S|CACNA1C_ENST00000399601.1_Silent_p.S666S|CACNA1C_ENST00000406454.3_Silent_p.S666S|CACNA1C_ENST00000399597.1_Silent_p.S666S|CACNA1C_ENST00000347598.4_Silent_p.S666S|CACNA1C_ENST00000399629.1_Silent_p.S666S|CACNA1C_ENST00000480911.1_Silent_p.S666S|CACNA1C_ENST00000327702.7_Silent_p.S666S|CACNA1C_ENST00000399634.1_Silent_p.S666S|CACNA1C_ENST00000399638.1_Silent_p.S666S|CACNA1C_ENST00000399621.1_Silent_p.S666S|CACNA1C_ENST00000399641.1_Silent_p.S666S|CACNA1C_ENST00000399606.1_Silent_p.S666S|CACNA1C_ENST00000399595.1_Silent_p.S666S|CACNA1C_ENST00000399649.1_Silent_p.S666S|CACNA1C_ENST00000399617.1_Silent_p.S666S|CACNA1C_ENST00000399637.1_Silent_p.S666S|CACNA1C_ENST00000399644.1_Silent_p.S666S NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 666 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) tcatcttctccctcctGGGGA 0.537000 12 14 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21038411 21038411 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:21038411G>A ENST00000261383.3 - 38 5477 c.5478C>T c.(5476-5478)tcC>tcT p.S1826S DNAH3_ENST00000415178.1_Silent_p.S1826S NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1826 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GGCTCATCTTGGAGTTCATCT 0.552000 11 33 0 0 1 0 0 CHIC2 26511 broad.mit.edu 37 4 54876273 54876273 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:54876273G>A ENST00000263921.3 - 6 876 c.487C>T c.(487-489)Cga>Tga p.R163* CHIC2_ENST00000512964.1_Nonsense_Mutation_p.R144*|FIP1L1_ENST00000507166.1_Intron NM_012110.3 NP_036242.1 Q9UKJ5 CHIC2_HUMAN cysteine-rich hydrophobic domain 2 163 plasma membrane protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08) LUSC - Lung squamous cell carcinoma(32;0.00216) TAATCTGGTCGAAAAATCGGT 0.338000 T ETV6 AML 13 30 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38591838 38591838 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:38591838C>T ENST00000413689.1 - 28 6218 c.6025G>A c.(6025-6027)Gac>Aac p.D2009N SCN5A_ENST00000425664.1_Missense_Mutation_p.D1991N|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1991N|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1955N|SCN5A_ENST00000333535.4_Missense_Mutation_p.D2009N|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1955N|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1955N|SCN5A_ENST00000423572.2_Missense_Mutation_p.D2008N|SCN5A_ENST00000443581.1_Missense_Mutation_p.D2008N|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1976N NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 2009 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CGGTCCCTGTCCGGAGAAGGG 0.572000 35 110 0 0 1 0 0 TMEM144 55314 broad.mit.edu 37 4 159154116 159154116 + Silent SNP T T C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:159154116T>C ENST00000514558.1 + 6 2273 c.477T>C c.(475-477)acT>acC p.T159T TMEM144_ENST00000296529.6_Silent_p.T159T Q7Z5S9 TM144_HUMAN transmembrane protein 144 159 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1) 19 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) TGGATACCACTCCATTAATAA 0.269000 13 28 0 0 1 0 0 C4BPB 725 broad.mit.edu 37 1 207273196 207273196 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:207273196G>A ENST00000243611.5 + 6 975 c.681G>A c.(679-681)aaG>aaA p.K227K C4BPB_ENST00000391923.1_Silent_p.K227K|C4BPB_ENST00000367078.3_Silent_p.K227K|C4BPB_ENST00000367076.3_Silent_p.K226K|C4BPB_ENST00000470767.1_3'UTR NM_000716.3 NP_000707.1 P20851 C4BPB_HUMAN complement component 4 binding protein, beta 227 blood coagulation|complement activation, classical pathway|innate immune response extracellular region breast(2)|lung(1)|ovary(1) 4 AACAATTAAAGGAAAGTGGCA 0.393000 28 64 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57646454 57646454 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:57646454C>T ENST00000269834.1 - 5 1636 c.1251G>A c.(1249-1251)agG>agA p.R417R NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATCTATAGGTCCTCTCTCCGC 0.393000 39 145 0 0 1 0 0 ZNF304 57343 broad.mit.edu 37 19 57867741 57867741 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:57867741G>A ENST00000391705.3 + 4 788 c.504G>A c.(502-504)acG>acA p.T168T ZNF304_ENST00000598744.1_Silent_p.T126T|ZNF304_ENST00000282286.5_Silent_p.T168T|ZNF304_ENST00000443917.2_Silent_p.T215T NM_020657.2 NP_065708.2 Q9HCX3 ZN304_HUMAN zinc finger protein 304 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) GATCCTTTACGTGCAGGGAGG 0.498000 20 62 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18876418 18876418 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:18876418C>T ENST00000266505.7 - 4 457 c.194G>A c.(193-195)cGa>cAa p.R65Q PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.R63Q Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 65 EF-hand. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.R65Q(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) CGTGATAATTCGATAAATTGC 0.343000 17 44 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182363375 182363375 + Missense_Mutation SNP T T A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:182363375T>A ENST00000397033.2 + 15 1996 c.1566T>A c.(1564-1566)gaT>gaA p.D522E NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 522 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TGAGTTTGGATGTGAACAGAA 0.333000 21 43 0 0 1 0 0 GPR35 2859 broad.mit.edu 37 2 241569976 241569976 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:241569976C>T ENST00000319838.5 + 6 1549 c.607C>T c.(607-609)Ccc>Tcc p.P203S GPR35_ENST00000407714.1_Missense_Mutation_p.P203S|GPR35_ENST00000403859.1_Missense_Mutation_p.P203S|GPR35_ENST00000438013.2_Missense_Mutation_p.P234S|GPR35_ENST00000430267.1_Missense_Mutation_p.P203S NM_001195381.1 NP_001182310.1 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 203 integral to plasma membrane G-protein coupled receptor activity NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 17 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) CCAGAGGCCACCCACCGACGT 0.667000 23 47 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48650043 48650043 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr17:48650043G>A ENST00000352832.5 + 6 1247 c.875G>A c.(874-876)gGg>gAg p.G292E CACNA1G_ENST00000507336.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G292E|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G292E|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G292E|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G292E|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000416767.4_Missense_Mutation_p.G292E|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G292E|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G292E|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G292E|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G292E|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G292E NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 292 Poly-Gly. axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CGCGGGGACGGGGGCGGTGGC 0.622000 12 18 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119087271 119087271 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:119087271C>T ENST00000264245.4 + 3 788 c.256C>T c.(256-258)Cag>Tag p.Q86* NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 86 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 AGTGTACCTCCAGGACATCCA 0.502000 19 71 0 0 1 0 0 CIB2 10518 broad.mit.edu 37 15 78401636 78401636 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:78401636G>A ENST00000258930.3 - 4 615 c.287C>T c.(286-288)tCc>tTc p.S96F CIB2_ENST00000557846.1_Missense_Mutation_p.S47F|CIB2_ENST00000539011.1_Missense_Mutation_p.S53F|CIB2_ENST00000560618.1_Missense_Mutation_p.S53F NM_006383.2 NP_006374.1 O75838 CIB2_HUMAN calcium and integrin binding family member 2 96 EF-hand 1. calcium ion binding p.S96F(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 11 GCAGAGCACGGAAAACATGTC 0.532000 14 53 0 0 1 0 0 GPR75 10936 broad.mit.edu 37 2 54080838 54080838 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:54080838G>A ENST00000394705.2 - 2 1326 c.1056C>T c.(1054-1056)ttC>ttT p.F352F ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 352 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GGTAAAGAATGAAGCTCCCAT 0.443000 31 82 0 0 1 0 0 B3GNT5 84002 broad.mit.edu 37 3 182987986 182987986 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:182987986C>T ENST00000326505.3 + 2 930 c.400C>T c.(400-402)Cct>Tct p.P134S MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.P134S|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.P134S|MCF2L2_ENST00000447025.2_Intron NM_032047.4 NP_114436.1 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 134 central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CTTAGGAACTCCTAATCCACT 0.408000 30 66 0 0 1 0 0 CALR3 125972 broad.mit.edu 37 19 16601311 16601311 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:16601311C>T ENST00000269881.3 - 3 326 c.264G>A c.(262-264)ggG>ggA p.G88G CTD-3222D19.2_ENST00000409035.1_Intron NM_145046.4 NP_659483.2 Q96L12 CALR3_HUMAN calreticulin 3 88 N-domain. protein folding endoplasmic reticulum lumen calcium ion binding|sugar binding|unfolded protein binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1) 15 CCAGAGTTTTCCCTTTATTGC 0.438000 46 117 0 0 1 0 0 ACPT 93650 broad.mit.edu 37 19 51295399 51295399 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:51295399G>A ENST00000270593.1 + 5 520 c.520G>A c.(520-522)Gag>Aag p.E174K ACPT_ENST00000270594.3_Intron NM_033068.2 NP_149059.1 Q9BZG2 PPAT_HUMAN acid phosphatase, testicular 174 integral to membrane acid phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3) 11 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CGAGGCCGCCGAGTACCAGGA 0.706000 10 18 0 0 1 0 0 SLC17A6 57084 broad.mit.edu 37 11 22399123 22399123 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:22399123G>A ENST00000263160.3 + 12 2023 c.1586G>A c.(1585-1587)gGg>gAg p.G529E NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 529 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 GAAGAAACAGGGGACATTACT 0.423000 15 59 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51778369 51778369 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:51778369G>A ENST00000251076.5 - 23 5670 c.5383C>T c.(5383-5385)Cct>Tct p.P1795S DMXL2_ENST00000449909.3_Missense_Mutation_p.P1159S|DMXL2_ENST00000543779.2_Missense_Mutation_p.P1795S|RP11-707P17.1_ENST00000561007.1_RNA NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1795 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CGCAGGAAAGGATCAGGATGT 0.413000 24 62 0 0 1 0 0 LGI2 55203 broad.mit.edu 37 4 25005714 25005714 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:25005714G>A ENST00000382114.4 - 8 1182 c.997C>T c.(997-999)Cag>Tag p.Q333* NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 333 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) TCGTCGATCTGAAACAGCTCG 0.438000 61 142 0 0 1 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49309166 49309166 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr15:49309166G>A ENST00000559471.1 - 10 1561 c.1298C>T c.(1297-1299)cCa>cTa p.P433L SECISBP2L_ENST00000261847.3_Missense_Mutation_p.P388L NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 433 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 AATAGGAATTGGAGTCTGAAC 0.373000 20 59 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164489 139164489 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:139164489G>A ENST00000395297.1 - 13 2399 c.2229C>T c.(2227-2229)atC>atT p.I743I NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 743 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GAGAAGCCTGGATGCCGCTTG 0.517000 HNSCC(54;0.14) 20 49 0 0 1 0 0 PRSS38 339501 broad.mit.edu 37 1 228033738 228033738 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:228033738C>T ENST00000366757.3 + 5 834 c.810C>T c.(808-810)tcC>tcT p.S270S NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 270 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GAGGCTGCTCCAACCCTCTGT 0.537000 18 53 0 0 1 0 0 C20orf196 149840 broad.mit.edu 37 20 5844062 5844062 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr20:5844062G>A ENST00000303142.6 + 3 658 c.571G>A c.(571-573)Gat>Aat p.D191N NM_152504.2 NP_689717.2 Q8IYI0 CT196_HUMAN chromosome 20 open reading frame 196 191 endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1) 9 ACTGTCAAAGGATATTACTCA 0.498000 27 111 0 0 1 0 0 RDH16 8608 broad.mit.edu 37 12 57345911 57345911 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:57345911C>T ENST00000398138.3 - 4 1712 c.856G>A c.(856-858)Gat>Aat p.D286N RDH16_ENST00000360752.4_5'UTR NM_003708.3 NP_003699.3 O75452 RDH16_HUMAN retinol dehydrogenase 16 (all-trans) 286 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9) 16 AGCTTGGCATCCCAGCCAGCT 0.567000 24 45 0 0 1 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215098 140215098 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:140215098G>A ENST00000525929.1 + 1 1130 c.1130G>A c.(1129-1131)cGa>cAa p.R377Q PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R377Q|PCDHA4_ENST00000530339.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGTTTGACCGAGATTTTGGA 0.507000 59 168 0 0 1 0 0 SERPINA1 5265 broad.mit.edu 37 14 94844815 94844815 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr14:94844815C>T ENST00000448921.1 - 7 1800 c.1228G>A c.(1228-1230)Gga>Aga p.G410R SERPINA1_ENST00000404814.4_Missense_Mutation_p.G410R|SERPINA1_ENST00000449399.3_Missense_Mutation_p.G410R|SERPINA1_ENST00000437397.1_Missense_Mutation_p.G410R|SERPINA1_ENST00000355814.4_Missense_Mutation_p.G410R|SERPINA1_ENST00000440909.1_Missense_Mutation_p.G410R|SERPINA1_ENST00000393088.4_Missense_Mutation_p.G410R|SERPINA1_ENST00000393087.4_Missense_Mutation_p.G410R NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 410 G -> L (in Ref. 24; AA sequence). acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) ACCACTTTTCCCATGAAGAGG 0.493000 21 69 0 0 1 0 0 MTMR12 54545 broad.mit.edu 37 5 32230067 32230067 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:32230067G>A ENST00000382142.3 - 16 2231 c.2061C>T c.(2059-2061)gcC>gcT p.A687A MTMR12_ENST00000280285.5_Silent_p.A633A|MTMR12_ENST00000264934.5_Silent_p.A577A NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 687 cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 CAGCCTGGGGGGCCTGCTGGC 0.572000 29 118 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102503334 102503334 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr6:102503334C>T ENST00000369138.1 + 15 2931 c.2441C>T c.(2440-2442)gCc>gTc p.A814V GRIK2_ENST00000369134.4_Missense_Mutation_p.A765V|GRIK2_ENST00000421544.1_Missense_Mutation_p.A814V|GRIK2_ENST00000369137.3_Missense_Mutation_p.A738V|GRIK2_ENST00000318991.6_Missense_Mutation_p.A814V|GRIK2_ENST00000413795.1_Missense_Mutation_p.A814V NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 814 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 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) GAGGCCAGTGCCCTGGGGGTT 0.483000 35 100 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19747261 19747261 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:19747261C>T ENST00000507958.1 - 6 1303 c.313G>A c.(313-315)Gat>Aat p.D105N CDH18_ENST00000511273.1_Missense_Mutation_p.D105N|CDH18_ENST00000274170.4_Missense_Mutation_p.D105N|CDH18_ENST00000506372.1_Missense_Mutation_p.D105N|CDH18_ENST00000382275.1_Missense_Mutation_p.D105N|CDH18_ENST00000502796.1_Missense_Mutation_p.D105N Q13634 CAD18_HUMAN cadherin 18, type 2 105 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D104_D105>EY(2)|p.D105Y(2) 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) CCCGTGGTATCGTCAATGATA 0.438000 34 73 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123810043 123810043 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:123810043C>T ENST00000369005.1 + 3 464 c.124C>T c.(124-126)Cct>Tct p.P42S TACC2_ENST00000515273.1_Missense_Mutation_p.P42S|TACC2_ENST00000513429.1_Missense_Mutation_p.P42S|TACC2_ENST00000358010.1_Missense_Mutation_p.P42S|TACC2_ENST00000334433.3_Missense_Mutation_p.P42S|TACC2_ENST00000515603.1_Missense_Mutation_p.P42S|TACC2_ENST00000453444.2_Missense_Mutation_p.P42S NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 42 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GCCCGGAAGCCCTGACCACAG 0.597000 11 42 0 0 1 0 0 VSIG10 54621 broad.mit.edu 37 12 118517363 118517363 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:118517363G>A ENST00000359236.5 - 4 989 c.713C>T c.(712-714)tCg>tTg p.S238L NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 238 Ig-like C2-type 3. integral to membrane endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 CAACATGAACGATCCTGATGC 0.547000 29 107 0 0 1 0 0 GALNT14 79623 broad.mit.edu 37 2 31133899 31133899 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:31133899G>A ENST00000349752.5 - 15 2166 c.1527C>T c.(1525-1527)atC>atT p.I509I GALNT14_ENST00000406653.1_Silent_p.I489I|GALNT14_ENST00000420311.2_Silent_p.I474I|GALNT14_ENST00000356174.3_Silent_p.I476I|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Silent_p.I514I NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 509 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) CTATGTGCTCGATGTGGGAAC 0.488000 40 74 0 0 1 0 0 RNF180 285671 broad.mit.edu 37 5 63509920 63509920 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:63509920C>T ENST00000389100.4 + 4 839 c.767C>T c.(766-768)tCc>tTc p.S256F RNF180_ENST00000296615.6_Missense_Mutation_p.S256F|RNF180_ENST00000381081.2_Intron NM_001113561.1 NP_001107033.1 Q86T96 RN180_HUMAN ring finger protein 180 256 integral to membrane|nuclear envelope zinc ion binding breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) ACTGCCTATTCCAGACTAAAT 0.348000 39 95 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56578824 56578824 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr12:56578824G>A ENST00000394023.3 - 4 494 c.389C>T c.(388-390)tCc>tTc p.S130F RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.S130F|SMARCC2_ENST00000267064.4_Missense_Mutation_p.S130F|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000347471.4_Missense_Mutation_p.S130F NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 130 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) CTGCACCAAGGACTTCTCAAT 0.428000 26 64 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182322468 182322468 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr2:182322468G>A ENST00000397033.2 + 1 517 c.87G>A c.(85-87)ccG>ccA p.P29P ITGA4_ENST00000339307.4_Silent_p.P29P NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 29 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TGGGGGTCCCGACCGGCCGCC 0.701000 12 12 0 0 1 0 0 ETFB 2109 broad.mit.edu 37 19 51869540 51869540 + Missense_Mutation SNP A A G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:51869540A>G ENST00000309244.4 - 1 132 c.41T>C c.(40-42)aTc>aCc p.I14T CTD-2616J11.11_ENST00000600067.1_Intron NM_001985.2 NP_001976.1 P38117 ETFB_HUMAN electron-transfer-flavoprotein, beta polypeptide 14 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity kidney(2)|large_intestine(1)|lung(3) 6 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661) GGCGTAGTCGATGACCCTCTT 0.672000 5 24 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61830301 61830301 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr10:61830301C>T ENST00000280772.1 - 37 10529 c.10338G>A c.(10336-10338)tgG>tgA p.W3446* ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3446 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CCTCTGTGTTCCAGATATCTT 0.458000 24 77 0 0 1 0 0 NME3 4832 broad.mit.edu 37 16 1820925 1820925 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:1820925G>A ENST00000219302.3 - 4 544 c.349C>T c.(349-351)Ccg>Tcg p.P117S NME3_ENST00000563498.1_Missense_Mutation_p.P33S NM_002513.2 NP_002504.2 Q13232 NDK3_HUMAN NME/NM23 nucleoside diphosphate kinase 3 117 apoptosis|CTP biosynthetic process|GTP biosynthetic process|induction of apoptosis|UTP biosynthetic process ATP binding|metal ion binding|nucleoside diphosphate kinase activity lung(1) 1 GTGCCGGGCGGGGCGTCGGCC 0.726000 18 41 0 0 1 0 0 IFT57 55081 broad.mit.edu 37 3 107885814 107885814 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr3:107885814G>A ENST00000264538.3 - 8 1115 c.868C>T c.(868-870)Cat>Tat p.H290Y IFT57_ENST00000468021.1_5'UTR NM_018010.3 NP_060480.1 Q9NWB7 IFT57_HUMAN intraflagellar transport 57 homolog (Chlamydomonas) 290 activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 14 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) ATTTCATTATGGAGTTTGTCC 0.338000 8 41 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56329477 56329477 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:56329477C>T ENST00000443188.1 - 4 774 c.64G>A c.(64-66)Gaa>Aaa p.E22K NLRP11_ENST00000589093.1_Missense_Mutation_p.E22K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E22K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E22K|NLRP11_ENST00000592953.1_Intron NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 22 DAPIN. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CTCTGAAATTCCTTGTCACTG 0.433000 29 55 0 0 1 0 0 PDGFC 56034 broad.mit.edu 37 4 157693921 157693921 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr4:157693921C>T ENST00000502773.1 - 4 1110 c.620G>A c.(619-621)aGa>aAa p.R207K PDGFC_ENST00000542208.1_Missense_Mutation_p.R52K|PDGFC_ENST00000422544.2_Missense_Mutation_p.R207K|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Missense_Mutation_p.R44K NM_016205.2 NP_057289.1 Q9NRA1 PDGFC_HUMAN platelet derived growth factor C 207 central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) CAACTGCCATCTCTCTGGTTC 0.438000 20 60 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366692 248366692 + Missense_Mutation SNP T T C TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr1:248366692T>C ENST00000456743.1 + 1 361 c.323T>C c.(322-324)cTt>cCt p.L108P NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ACATCACTGCTTGGCTCTGAG 0.463000 110 451 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6937554 6937554 + Splice_Site SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr19:6937554G>A ENST00000312053.4 + 20 2587 c.e20-1 EMR1_ENST00000450315.3_Splice_Site|EMR1_ENST00000381404.4_Splice_Site|EMR1_ENST00000250572.8_Splice_Site|EMR1_ENST00000381407.5_Splice_Site NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TCCTTCTCCAGGTACGAGAAG 0.577000 38 112 0 0 1 0 0 CTC-338M12.9 0 broad.mit.edu 37 5 180708658 180708658 + RNA DEL A A - TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr5:180708658delA ENST00000412295.2 + 0 238 GAGCGGTAGGAGgggggctgg 0.711 5 11 --- --- --- --- FAM66D 100132923 broad.mit.edu 37 8 11994626 11994627 + RNA DEL GT GT - rs138516564 by1000genomes TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr8:11994626_11994627delGT ENST00000434078.2 + 0 608 NR_027425.1 gtatttgtgcgtgtgtgtgtgt 0.510 7 128 --- --- --- --- EXPH5 23086 broad.mit.edu 37 11 108385329 108385333 + Frame_Shift_Del DEL TCCCT TCCCT - TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr11:108385329_108385333delTCCCT ENST00000265843.4 - 6 1011_1015 c.901_905delAGGGA c.(901-906)gfs p.RE301fs EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Frame_Shift_Del_p.RE225fs|EXPH5_ENST00000525344.1_Frame_Shift_Del_p.RE294fs|EXPH5_ENST00000443411.1_Frame_Shift_Del_p.RE113fs NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 301 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GACTCTGGGCTCCCTTGTCCTATAC 0.429 26 42 --- --- --- --- FAM216B 144809 broad.mit.edu 37 13 43362867 43362881 + In_Frame_Del DEL CCTGTATCTGTGGTT CCTGTATCTGTGGTT - TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr13:43362867_43362881delCCTGTATCTGTGGTT ENST00000537894.1 + 4 484_498 c.361_375delCCTGTATCTGTGGTT c.(361-375)del p.PVSVV121del FAM216B_ENST00000313851.1_In_Frame_Del_p.PVSVV121del NM_182508.2 NP_872314.1 Q8N7L0 CM030_HUMAN family with sequence similarity 216, member B 121 ATCAGTACTACCTGTATCTGTGGTTCTACCTAGGG 0.474 12 71 --- --- --- --- CYB5B 80777 broad.mit.edu 37 16 69493023 69493027 + Splice_Site DEL AGGTT AGGTT - TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr16:69493023_69493027delAGGTT ENST00000512062.1 + 4 520_521 c.350_splice c.e4+1 p.117_splice CYB5B_ENST00000307892.8_Splice_Site_p.121_splice|CYB5B_ENST00000515314.1_Intron|CYB5B_ENST00000561792.1_Splice_Site_p.117_splice O43169 CYB5B_HUMAN cytochrome b5 type B (outer mitochondrial membrane) 117 electron transport chain|transport integral to membrane|mitochondrial outer membrane heme binding endometrium(3)|kidney(3)|lung(2) 8 Ovarian(137;0.101) TACATGCAAAAGGTTAGTATCTCCT 0.302 19 68 --- --- --- --- KDSR 2531 broad.mit.edu 37 18 61018162 61018163 + Frame_Shift_Ins INS - - G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr18:61018162_61018163insG ENST00000406396.3 - 6 958_959 c.567_568insC c.(565-570)tcagttfs p.V190fs KDSR_ENST00000326575.5_Intron NM_002035.2 NP_002026.1 Q06136 KDSR_HUMAN 3-ketodihydrosphingosine reductase 190 3-keto-sphinganine metabolic process endoplasmic reticulum membrane|extracellular space|integral to membrane 3-dehydrosphinganine reductase activity|binding endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 9 ATGGCAAACTTGGATGCAGAGT 0.480 68 142 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085461 11085462 + RNA INS - - AAA rs10446207 by1000genomes TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ec65b1-5471-401b-bc78-c8552becf75b bb78648c-2843-465f-9057-8b97db7f5a50 g.chr21:11085461_11085462insAAA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 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) ccatcaccactaccactaccac 0.535 3 5 --- --- --- ---