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 SLC30A8 169026 broad.mit.edu 37 8 118175681 118175681 + Silent SNP C C T TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr8:118175681C>T ENST00000427715.2 + 9 1028 c.594C>T c.(592-594)gcC>gcT p.A198A SLC30A8_ENST00000521243.1_Silent_p.A198A|SLC30A8_ENST00000456015.2_Silent_p.A247A|SLC30A8_ENST00000519688.1_Silent_p.A198A NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 247 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) ATAAAATAGCCGACCCAATCT 0.383000 5 44 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85521642 85521642 + Missense_Mutation SNP G G A TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr12:85521642G>A ENST00000393217.2 + 18 4101 c.4040G>A c.(4039-4041)cGt>cAt p.R1347H NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1347 IQ 2. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TCATACTGGCGTGGTTACCTC 0.388000 6 82 0 0 1 0 0 RASA4B 100271927 broad.mit.edu 37 7 102136604 102136604 + Missense_Mutation SNP C C T rs746316 TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr7:102136604C>T ENST00000481893.1 - 16 1962 c.838G>A c.(838-840)Gtg>Atg p.V280M RASA4B_ENST00000541662.1_Missense_Mutation_p.V352M|RASA4B_ENST00000306682.6_Missense_Mutation_p.V280M|RASA4B_ENST00000465829.1_Missense_Mutation_p.V352M RAS p21 protein activator 4B p.V352M(1) skin(1) 1 AAAGACTCCACGGACTTTGAG 0.542000 4 53 0 0 1 0 0 MSH2 4436 broad.mit.edu 37 2 47637343 47637343 + Silent SNP A A G TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr2:47637343A>G ENST00000406134.1 + 3 539 c.477A>G c.(475-477)agA>agG p.R159R MSH2_ENST00000543555.1_Silent_p.R93R|MSH2_ENST00000233146.2_Silent_p.R159R P43246 MSH2_HUMAN mutS homolog 2 159 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ATGGCCAGAGACAGGTTGGAG 0.443000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 16 155 0 0 1 0 0 ZNF727 442319 broad.mit.edu 37 7 63529386 63529386 + Missense_Mutation SNP T T G TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr7:63529386T>G ENST00000550760.3 + 2 300 c.121T>G c.(121-123)Ttc>Gtc p.F41V RP11-3N2.13_ENST00000445978.1_RNA NM_001159522.1 NP_001152994.1 A8MUV8 ZN727_HUMAN zinc finger protein 727 41 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F41V(1) endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 CGGAAACCTGTTCTCCTTGGG 0.383000 3 10 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846004 18846004 + RNA SNP C C T TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr22:18846004C>T ENST00000412938.1 + 0 3362 CTGCGCAGGCCGACACTCACT 0.612000 4 28 0 0 1 0 0 FANK1 92565 broad.mit.edu 37 10 127585218 127585218 + Missense_Mutation SNP C C A TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr10:127585218C>A ENST00000368693.1 + 1 111 c.7C>A c.(7-9)Ccc>Acc p.P3T FANK1_ENST00000368695.1_5'UTR|FANK1_ENST00000449042.2_5'UTR Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 3 cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) GACCATGGAGCCCCAGAGTAA 0.761000 3 14 0.115264 0.117884 1 1 0 ANKRD20A5P 0 broad.mit.edu 37 18 14179412 14179412 + RNA SNP A A G TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr18:14179412A>G ENST00000581935.1 + 0 317 lung(3) 3 GTTCGGCTTCAGGAGCCGCAG 0.607000 4 9 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140554081 140554081 + Missense_Mutation SNP C C A TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr5:140554081C>A ENST00000231137.3 + 1 1839 c.1665C>A c.(1663-1665)aaC>aaA p.N555K NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 555 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGACGCCAACGACAACTCGC 0.726000 9 49 0.00621372 0.00681993 1 1 0 COL19A1 1310 broad.mit.edu 37 6 70639450 70639450 + Missense_Mutation SNP G G C TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr6:70639450G>C ENST00000322773.4 + 6 626 c.524G>C c.(523-525)gGc>gCc p.G175A NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 175 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 CACAAACTTGGCATTAGTATA 0.408000 7 55 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 30 0.00909568 0.00974537 1 1 0 DIDO1 11083 broad.mit.edu 37 20 61513251 61513251 + Missense_Mutation SNP C C T TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr20:61513251C>T ENST00000266070.4 - 16 4382 c.4057G>A c.(4057-4059)Ggg>Agg p.G1353R DIDO1_ENST00000395343.1_Missense_Mutation_p.G1353R NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1353 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GCCGGCACCCCGTCCTCTGCT 0.577000 7 83 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61986869 61986869 + Missense_Mutation SNP T T C TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr13:61986869T>C ENST00000409186.1 - 5 3468 c.1363A>G c.(1363-1365)Acc>Gcc p.T455A PCDH20_ENST00000409204.4_Missense_Mutation_p.T455A Q8N6Y1 PCD20_HUMAN protocadherin 20 428 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TCTCTTATGGTGAAAAACGCA 0.413000 10 93 0 0 1 0 0 FYCO1 79443 broad.mit.edu 37 3 46009701 46009701 + Silent SNP A A G TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr3:46009701A>G ENST00000296137.2 - 8 1330 c.1125T>C c.(1123-1125)gcT>gcC p.A375A FYCO1_ENST00000535325.1_Silent_p.A375A NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 375 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) CCTTCTGCTGAGCCATGGCTA 0.577000 5 115 0 0 1 0 0 EHBP1 23301 broad.mit.edu 37 2 63175612 63175612 + Missense_Mutation SNP T T C TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr2:63175612T>C ENST00000263991.5 + 14 2218 c.1736T>C c.(1735-1737)gTt>gCt p.V579A EHBP1_ENST00000405289.1_Missense_Mutation_p.V544A|EHBP1_ENST00000354487.3_Missense_Mutation_p.V544A|EHBP1_ENST00000405015.3_Missense_Mutation_p.V544A|EHBP1_ENST00000431489.1_Missense_Mutation_p.V544A NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 579 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) AACAGTTCTGTTGATCAAGAA 0.403000 5 54 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 5 94 0 0 1 0 0 ARAF 369 broad.mit.edu 37 X 47428273 47428273 + Silent SNP G G A TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chrX:47428273G>A ENST00000377045.4 + 11 1427 c.1233G>A c.(1231-1233)cgG>cgA p.R411R NM_001256196.1|NM_001654.4 NP_001243125.1|NP_001645.1 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene homolog 411 Protein kinase. intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 29 Adenosine triphosphate(DB00171) ACGTGGCCCGGCAGACTGCCC 0.637000 OREG0019759 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 1 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35189761 35189761 + Splice_Site SNP G G A TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr15:35189761G>A ENST00000156471.5 - 21 2614 c.2390_splice c.e21+1 p.R797_splice NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 797 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TAAAATTACCGTTTGGGTTGA 0.343000 5 49 0 0 1 0 0 C10orf118 55088 broad.mit.edu 37 10 115887293 115887293 + Missense_Mutation SNP G G A TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr10:115887293G>A ENST00000369287.3 - 14 2586 c.2320C>T c.(2320-2322)Cgg>Tgg p.R774W C10orf118_ENST00000543782.1_Missense_Mutation_p.R372W NM_018017.2 NP_060487.2 Q7Z3E2 CJ118_HUMAN chromosome 10 open reading frame 118 774 NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2) 24 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) TCATTTTTCCGGGCATGTGCT 0.383000 5 57 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104063362 104063362 + Missense_Mutation SNP A A G TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr12:104063362A>G ENST00000388887.2 + 21 2420 c.2216A>G c.(2215-2217)cAg>cGg p.Q739R NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 739 EGF-like 6. 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 GACTGCAACCAGTGTCCAGGA 0.433000 5 44 0 0 1 0 0 SLC46A3 283537 broad.mit.edu 37 13 29284911 29284911 + Missense_Mutation SNP C C T rs139317940 byFrequency TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr13:29284911C>T ENST00000266943.6 - 4 1499 c.1130G>A c.(1129-1131)cGt>cAt p.R377H SLC46A3_ENST00000380814.4_Missense_Mutation_p.R377H NM_001135919.1|NM_181785.3 NP_001129391.1|NP_861450.1 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 377 transmembrane transport integral to membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1) 15 Lung SC(185;0.0367) all cancers(112;0.159) TTCAGTCGAACGAACCACTTT 0.383000 4 51 0 0 1 0 0 WTAP 9589 broad.mit.edu 37 6 160157288 160157288 + Splice_Site SNP A A T TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr6:160157288A>T ENST00000358372.4 + 2 1749 c.e2-1 SOD2_ENST00000546087.1_Intron|WTAP_ENST00000494513.1_Splice_Site|WTAP_ENST00000337387.4_Splice_Site NM_001270531.1|NM_004906.4 NP_001257460.1|NP_004897.2 Q15007 FL2D_HUMAN Wilms tumor 1 associated protein cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 18 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) TTTTTTTTTTAGGATTCAAGA 0.318000 4 102 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16860790 16860790 + Missense_Mutation SNP G G C TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr19:16860790G>C ENST00000524140.2 + 6 1755 c.1337G>C c.(1336-1338)cGc>cCc p.R446P NWD1_ENST00000552788.1_Missense_Mutation_p.R446P|NWD1_ENST00000523826.1_Missense_Mutation_p.R240P|NWD1_ENST00000339803.6_Missense_Mutation_p.R311P|NWD1_ENST00000549814.1_Missense_Mutation_p.R446P|NWD1_ENST00000379808.3_Missense_Mutation_p.R446P NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 446 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GACTCTGTCCGCCATGCTCGG 0.592000 5 38 0 0 1 0 0 LCE4A 199834 broad.mit.edu 37 1 152681746 152681746 + Missense_Mutation SNP C C A TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr1:152681746C>A ENST00000368777.1 + 2 451 c.195C>A c.(193-195)caC>caA p.H65Q LCE4A_ENST00000335535.3_Missense_Mutation_p.H65Q Q5TA78 LCE4A_HUMAN late cornified envelope 4A 65 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.116) ACCACAGACACCATAGGTCCC 0.622000 6 54 0.00116845 0.0013145 1 1 0 FAM171B 165215 broad.mit.edu 37 2 187626300 187626300 + Missense_Mutation SNP C C A TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr2:187626300C>A ENST00000304698.5 + 8 1434 c.1231C>A c.(1231-1233)Cat>Aat p.H411N NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 411 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 ACACATAAATCATATCAGTAC 0.383000 12 96 0.0167234 0.0175012 1 1 0 ITGA2 3673 broad.mit.edu 37 5 52360743 52360743 + Splice_Site SNP G G A TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr5:52360743G>A ENST00000296585.5 + 14 1747 c.1602_splice c.e14-1 p.G535_splice NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 535 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) CTTTGCAAGGGCATTTTGGGT 0.448000 6 61 0 0 1 0 0 HNRNPH2 3188 broad.mit.edu 37 X 100667605 100667605 + Missense_Mutation SNP A A G TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chrX:100667605A>G ENST00000316594.5 + 2 707 c.629A>G c.(628-630)tAt>tGt p.Y210C NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4 NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1 P55795 HNRH2_HUMAN heterogeneous nuclear ribonucleoprotein H2 (H') 210 nuclear mRNA splicing, via spliceosome actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding breast(3)|large_intestine(2)|lung(6)|skin(1) 12 CCAGGTCCCTATGATAGGCCG 0.552000 4 24 0 0 1 0 0 PCNA 5111 broad.mit.edu 37 20 5099414 5099414 + Splice_Site SNP C C T rs112672560 TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr20:5099414C>T ENST00000379160.3 - 3 562 c.e3+1 PCNA_ENST00000379143.5_Splice_Site NM_002592.2 NP_002583.1 P12004 PCNA_HUMAN proliferating cell nuclear antigen cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(2) 9 GTACGACTTACTTGGTGCTTC 0.413000 DNA polymerases (catalytic subunits) 17 204 0 0 1 0 0 SUZ12P 0 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 6 110 0 0 1 0 0 DFNB59 494513 broad.mit.edu 37 2 179320876 179320876 + Missense_Mutation SNP C C T rs111706634 TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr2:179320876C>T ENST00000409117.3 + 4 903 c.547C>T c.(547-549)Cgg>Tgg p.R183W DFNB59_ENST00000375129.4_Missense_Mutation_p.R183W|DFNB59_ENST00000605419.1_3'UTR NM_001042702.3 NP_001036167.1 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 183 R -> W (in DFNB59). sensory perception of sound breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) GGAAGCAATGCGGGTAAACCA 0.443000 3 22 0 0 1 0 0 STIL 6491 broad.mit.edu 37 1 47746429 47746429 + Silent SNP C C T TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr1:47746429C>T ENST00000360380.3 - 13 2064 c.1701G>A c.(1699-1701)ccG>ccA p.P567P STIL_ENST00000396221.2_Silent_p.P567P|STIL_ENST00000371877.3_Silent_p.P567P|STIL_ENST00000337817.5_Silent_p.P567P|STIL_ENST00000243182.6_Silent_p.P567P Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 567 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) GTTGGGACTGCGGGGCAAGAG 0.433000 4 71 0 0 1 0 0 RAP1A 5906 broad.mit.edu 37 1 112240073 112240073 + Missense_Mutation SNP T T C TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr1:112240073T>C ENST00000369709.3 + 4 316 c.137T>C c.(136-138)gTc>gCc p.V46A RAP1A_ENST00000545460.1_Missense_Mutation_p.V46A|RAP1A_ENST00000356415.1_Missense_Mutation_p.V46A|RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000436150.2_Missense_Mutation_p.V46A NM_002884.2 NP_002875.1 P62834 RAP1A_HUMAN RAP1A, member of RAS oncogene family 46 activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion cytosol|plasma membrane GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021) Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141) CAAGTTGAAGTCGATTGCCAA 0.363000 5 66 0 0 1 0 0 MFSD6L 162387 broad.mit.edu 37 17 8702014 8702014 + Missense_Mutation SNP G G C TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr17:8702014G>C ENST00000329805.4 - 1 653 c.425C>G c.(424-426)gCc>gGc p.A142G NM_152599.3 NP_689812.3 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 6-like 142 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 AGTCCTCTTGGCTGGGTGGCT 0.587000 5 61 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27453211 27453211 + Missense_Mutation SNP T T C TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr3:27453211T>C ENST00000295736.5 - 12 1731 c.1661A>G c.(1660-1662)aAt>aGt p.N554S SLC4A7_ENST00000455077.1_Missense_Mutation_p.N435S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.N550S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.N435S|SLC4A7_ENST00000388777.4_Missense_Mutation_p.N104S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.N439S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.N430S|SLC4A7_ENST00000425128.2_Missense_Mutation_p.N546S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.N550S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.N563S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.N546S NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 554 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 GGTAGATCCATTGTGAAACAC 0.413000 6 20 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296674 39296674 + Silent SNP G G A TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr17:39296674G>A ENST00000345847.4 - 1 65 c.66C>T c.(64-66)cgC>cgT p.R22R NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 22 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 AGCAGCTGGGGCGGCAGCAGG 0.632000 4 33 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296626 39296626 + Silent SNP G G A TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr17:39296626G>A ENST00000345847.4 - 1 113 c.114C>T c.(112-114)ccC>ccT p.P38P NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 38 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 CACAGCAGCTGGGGCGGCAGC 0.667000 3 41 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173542454 173542454 + Missense_Mutation SNP T T A TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr1:173542454T>A ENST00000367714.3 - 9 1335 c.913A>T c.(913-915)Att>Ttt p.I305F SLC9C2_ENST00000536496.1_Missense_Mutation_p.I203F|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 305 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity GATGAAAAAATTCTTAAGAAC 0.269000 6 47 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45566931 45566931 + Missense_Mutation SNP A A C TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr18:45566931A>C ENST00000588982.1 - 3 1049 c.548T>G c.(547-549)aTc>aGc p.I183S ZBTB7C_ENST00000535628.2_Missense_Mutation_p.I183S|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.I183S|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.I183S|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.I183S A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 183 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GTGGCAGCTGATGTCCTGGGG 0.562000 5 55 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1592193 1592193 + Silent SNP C C T TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr20:1592193C>T ENST00000279477.7 - 2 307 c.243G>A c.(241-243)caG>caA p.Q81Q RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Silent_p.Q81Q|SIRPB1_ENST00000381605.4_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 81 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 GGCCTTCTTTCTGATTGTAGA 0.522000 3 18 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696431 47696431 + Missense_Mutation SNP C C A TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr17:47696431C>A ENST00000393331.3 - 7 862 c.392G>T c.(391-393)tGg>tTg p.W131L SPOP_ENST00000504102.1_Missense_Mutation_p.W131L|SPOP_ENST00000503676.1_Missense_Mutation_p.W131L|SPOP_ENST00000393328.2_Missense_Mutation_p.W131L|SPOP_ENST00000347630.2_Missense_Mutation_p.W131L NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 131 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 CTTGAATCCCCAGTCTTTGCC 0.453000 Prostate(2;0.17) 5 79 0.217242 0.217242 1 1 0 C5orf38 153571 broad.mit.edu 37 5 2755214 2755214 + Silent SNP G G A TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr5:2755214G>A ENST00000397835.4 + 3 405 c.405G>A c.(403-405)gcG>gcA p.A135A C5orf38_ENST00000334000.3_3'UTR Q86SI9 CEI_HUMAN chromosome 5 open reading frame 38 0 extracellular region endometrium(2)|large_intestine(1)|lung(1) 4 GBM - Glioblastoma multiforme(108;0.205) GAGGCCGAGCGCGAGGAACAG 0.657000 9 53 0 0 1 0 0 SEMA3C 10512 broad.mit.edu 37 7 80418784 80418784 + Missense_Mutation SNP C C G TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr7:80418784C>G ENST00000265361.3 - 12 1753 c.1192G>C c.(1192-1194)Gtc>Ctc p.V398L SEMA3C_ENST00000544525.1_Missense_Mutation_p.V416L|SEMA3C_ENST00000419255.2_Missense_Mutation_p.V398L NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 398 Sema. immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 ATAAAAGTGACAACATCATCT 0.388000 3 31 0 0 1 0 0 PRRC2C 23215 broad.mit.edu 37 1 171493968 171493968 + Frame_Shift_Del DEL A A - TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr1:171493968delA ENST00000367742.3 + 10 1306 c.1064delA c.(1063-1065)cafs p.Q355fs PRRC2C_ENST00000338920.4_Frame_Shift_Del_p.Q353fs|PRRC2C_ENST00000392078.3_Frame_Shift_Del_p.Q355fs|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000426496.2_Frame_Shift_Del_p.Q353fs Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 353 protein C-terminus binding AGTGAGGATCAAGGTTCAAAA 0.328 2 4 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195400918 195400919 + RNA INS - - T rs55992531 by1000genomes TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr3:195400918_195400919insT ENST00000445430.1 + 0 1454 AGTCttttttctttttttttga 0.525 4 3 --- --- --- --- AC011516.2 0 broad.mit.edu 37 19 22803277 22803277 + RNA DEL C C - TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr19:22803277delC ENST00000598042.1 - 0 115 GTGCAGGGGTCCAGAGCCATT 0.597 2 4 --- --- --- --- ACPT 93650 broad.mit.edu 37 19 51293714 51293716 + In_Frame_Del DEL CTG CTG - TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chr19:51293714_51293716delCTG ENST00000270593.1 + 1 43_45 c.43_45delCTG c.(43-45)del p.L20del ACPT_ENST00000270594.3_In_Frame_Del_p.L20del NM_033068.2 NP_149059.1 Q9BZG2 PPAT_HUMAN acid phosphatase, testicular 20 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) TGGACCTCTCctgctgctgctgc 0.709 2 4 --- --- --- --- RNA5-8SP6 0 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82e2c88f-f5dd-441d-8a01-80d89c3f693d a1004109-c2d6-4bb6-8dc9-d41d46ba165a g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 2 4 --- --- --- ---