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 OTOGL 283310 broad.mit.edu 37 12 80650233 80650233 + Missense_Mutation SNP C C A TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr12:80650233C>A ENST00000458043.2 + 16 1683 c.1677C>A c.(1675-1677)aaC>aaA p.N559K OTOGL_ENST00000547103.1_Missense_Mutation_p.N559K NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 AAGGCTTCAACCTGAATGGTA 0.388000 2 11 1 1 1 1 0 ST5 6764 broad.mit.edu 37 11 8752316 8752316 + Missense_Mutation SNP C C T TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr11:8752316C>T ENST00000534127.1 - 6 906 c.521G>A c.(520-522)cGc>cAc p.R174H ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.R174H|ST5_ENST00000313726.6_Missense_Mutation_p.R174H|ST5_ENST00000526757.1_Intron NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 174 positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CGCCTCTCGGCGACCTTCCCA 0.706000 3 67 0 0 1 0 0 KIF11 3832 broad.mit.edu 37 10 94405250 94405250 + Missense_Mutation SNP C C T TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr10:94405250C>T ENST00000260731.3 + 18 2488 c.2398C>T c.(2398-2400)Cac>Tac p.H800Y NM_004523.3 NP_004514.2 P52732 KIF11_HUMAN kinesin family member 11 800 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATCTGTGAAACACTCTGATAA 0.353000 4 46 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85972118 85972118 + Silent SNP C C T TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr10:85972118C>T ENST00000372117.3 + 15 1840 c.1737C>T c.(1735-1737)agC>agT p.S579S CDHR1_ENST00000440770.2_Silent_p.S283S|CDHR1_ENST00000332904.3_Silent_p.S579S NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 579 Cadherin 6. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 TTGGAAAGAGCGTTCAGAAGA 0.517000 3 118 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81591292 81591292 + Missense_Mutation SNP A A C TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr7:81591292A>C ENST00000356860.3 - 36 3222 c.2884T>G c.(2884-2886)Tgc>Ggc p.C962G CACNA2D1_ENST00000356253.5_Missense_Mutation_p.C974G|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.C174G NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 974 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TCAGTAATGCAGCTCTGCTTG 0.448000 10 57 0 0 1 0 0 CANT1 124583 broad.mit.edu 37 17 76993313 76993313 + Missense_Mutation SNP T T C TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr17:76993313T>C ENST00000302345.2 - 2 886 c.392A>G c.(391-393)aAg>aGg p.K131R CANT1_ENST00000392446.5_Missense_Mutation_p.K131R|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 131 positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) CAGGTAGCCCTTTTTCAGGTA 0.577000 T ETV4 prostate 5 377 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248524937 248524937 + Missense_Mutation SNP A A T TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr1:248524937A>T ENST00000366475.1 + 1 55 c.55A>T c.(55-57)Atg>Ttg p.M19L NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|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;0.0265) TTTCATCCTGATGGGACTCTT 0.488000 3 84 0 0 1 0 0 YARS2 51067 broad.mit.edu 37 12 32903753 32903753 + Silent SNP G G A TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr12:32903753G>A ENST00000324868.8 - 3 1030 c.1003C>T c.(1003-1005)Ctg>Ttg p.L335L NM_001040436.2 NP_001035526.1 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 335 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 16 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) TTGACATGCAGCTGCATGATA 0.428000 3 74 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89128877 89128877 + Silent SNP C C T TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr8:89128877C>T ENST00000286614.6 - 6 1223 c.942G>A c.(940-942)ccG>ccA p.P314P MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 314 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding p.P314P(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TTGGGTCAGCCGGAGGAATAG 0.537000 22 179 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544783 23544783 + Missense_Mutation SNP C C T rs410211 TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr19:23544783C>T ENST00000300619.7 - 4 1203 c.998G>A c.(997-999)cGt>cAt p.R333H ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 333 R -> H (in Ref. 1; AAA59469). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R333H(1) all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAACGGCTAAAAGC 0.393000 3 77 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75855959 75855959 + Splice_Site SNP C C A TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr6:75855959C>A ENST00000322507.8 - 24 4728 c.4417_splice c.e24-1 p.L1473_splice COL12A1_ENST00000416123.2_Splice_Site_p.L1473_splice|COL12A1_ENST00000483888.2_Splice_Site_p.L1473_splice|COL12A1_ENST00000345356.6_Splice_Site_p.L309_splice NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1473 cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CAGGCACTGGCACTTCCAAAA 0.418000 4 26 0.150653 0.159784 1 1 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 37 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34931659 34931659 + Missense_Mutation SNP A A C TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr21:34931659A>C ENST00000356577.4 + 5 6920 c.6445A>C c.(6445-6447)Aaa>Caa p.K2149Q SON_ENST00000300278.4_Missense_Mutation_p.K2149Q|SON_ENST00000381692.2_Missense_Mutation_p.K177Q|SON_ENST00000290239.6_Missense_Mutation_p.K2149Q NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 2149 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 CAGTGAACCCAAACCTATTTT 0.323000 12 95 0 0 1 0 0 CATSPER2 117155 broad.mit.edu 37 15 43924399 43924399 + Missense_Mutation SNP G G C TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr15:43924399G>C ENST00000396879.1 - 13 1665 c.1553C>G c.(1552-1554)gCa>gGa p.A518G CATSPER2_ENST00000321596.5_Missense_Mutation_p.A520G|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Missense_Mutation_p.A524G|CATSPER2_ENST00000355438.2_3'UTR|CATSPER2_ENST00000354127.4_Missense_Mutation_p.A518G Q96P56 CTSR2_HUMAN cation channel, sperm associated 2 520 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) CTCCATACCTGCAAACTCTTG 0.453000 3 77 0 0 1 0 0 RNF8 9025 broad.mit.edu 37 6 37336290 37336290 + Missense_Mutation SNP C C T TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr6:37336290C>T ENST00000373479.4 + 3 464 c.271C>T c.(271-273)Cgt>Tgt p.R91C RNF8_ENST00000469731.1_Missense_Mutation_p.R91C|RNF8_ENST00000479516.1_3'UTR NM_003958.3|NM_183078.2 NP_003949.1|NP_898901.1 O76064 RNF8_HUMAN ring finger protein 8, E3 ubiquitin protein ligase 91 FHA. cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13 GAACAGAGCGCGTCTGGAACC 0.423000 3 139 0 0 1 0 0 USP50 373509 broad.mit.edu 37 15 50833426 50833426 + Silent SNP T T C TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr15:50833426T>C ENST00000532404.1 - 4 653 c.480A>G c.(478-480)ggA>ggG p.G160G USP50_ENST00000530218.1_Intron NM_203494.4 NP_987090.2 E9PP86 E9PP86_HUMAN ubiquitin specific peptidase 50 160 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5) 13 all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288) TCTGAGTAGATCCTTTCTCAT 0.393000 3 75 0 0 1 0 0 TMPRSS2 0 broad.mit.edu 37 21 42843813 42843813 + Missense_Mutation SNP A A T TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr21:42843813A>T ENST00000398585.3 - 10 1166 c.1106T>A c.(1105-1107)aTt>aAt p.I369N TMPRSS2_ENST00000458356.1_Missense_Mutation_p.I332N|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.I332N NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 332 Peptidase S1. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) TGGATGAGAAATCACTTTTTC 0.458000 T """ERG, ETV1, ETV4, ETV5""" prostate 3 56 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 3 37 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10480104 10480104 + Splice_Site SNP T T C TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr8:10480104T>C ENST00000382483.3 - 2 831 c.609_splice c.e2+1 p.K203_splice RP1L1_ENST00000329335.3_5'UTR NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 203 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) ACAGCCTACCTTTTTCCCGCT 0.483000 3 175 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49646094 49646094 + Missense_Mutation SNP G G A TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr19:49646094G>A ENST00000334186.4 + 21 2927 c.2578G>A c.(2578-2580)Gcc>Acc p.A860T PPFIA3_ENST00000602351.1_Missense_Mutation_p.A860T NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 860 SAM 1. cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GTATGTGGCCGCCTGCCGGGC 0.627000 3 159 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366998 248366998 + Missense_Mutation SNP C C T TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr1:248366998C>T ENST00000456743.1 + 1 667 c.629C>T c.(628-630)cCt>cTt p.P210L NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 210 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) ATTGTTTTCCCTGTTGCAATC 0.418000 49 351 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43915893 43915893 + Missense_Mutation SNP G G C rs143747399 by1000genomes TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr9:43915893G>C ENST00000377564.3 + 23 4134 c.3741G>C c.(3739-3741)atG>atC p.M1247I NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 1247 cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 CTGCTGTCATGGGAGGTAACA 0.433000 2 22 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49671826 49671826 + Missense_Mutation SNP G G A TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr19:49671826G>A ENST00000252826.5 + 6 755 c.629G>A c.(628-630)aGg>aAg p.R210K TRPM4_ENST00000427978.2_Missense_Mutation_p.R210K|TRPM4_ENST00000355712.5_5'UTR NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 210 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) TTCCCTGCGAGGTACCGGTGG 0.647000 3 94 0 0 1 0 0 WDR83 84292 broad.mit.edu 37 19 12780686 12780686 + Missense_Mutation SNP G G A TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr19:12780686G>A ENST00000418543.3 + 3 431 c.82G>A c.(82-84)Gtg>Atg p.V28M WDR83_ENST00000242796.4_Missense_Mutation_p.V28M|WDR83OS_ENST00000596731.1_5'UTR NM_001099737.2 NP_001093207.1 Q9BRX9 WDR83_HUMAN WD repeat domain 83 28 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm breast(2)|large_intestine(1)|lung(1) 4 GCAGGGGGCAGTGCGAGCCGT 0.637000 3 137 0 0 1 0 0 SSBP4 170463 broad.mit.edu 37 19 18543390 18543390 + Silent SNP G G A TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr19:18543390G>A ENST00000270061.6 + 11 946 c.726G>A c.(724-726)ccG>ccA p.P242P SSBP4_ENST00000348495.5_Silent_p.P220P NM_032627.4 NP_116016.1 Q9BWG4 SSBP4_HUMAN single stranded DNA binding protein 4 242 Pro-rich. nucleus single-stranded DNA binding endometrium(2)|kidney(1)|skin(1) 4 TTCGTGGCCCGTGGGCCAGCC 0.667000 3 116 0 0 1 0 0 TRIM51HP 0 broad.mit.edu 37 11 55064991 55064991 + RNA SNP G G T rs115145648 by1000genomes TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr11:55064991G>T ENST00000526016.1 - 0 434 NR_038174.2 CCATGTTCAGGTTTCTGAGAT 0.403000 3 31 0.184627 0.190058 1 1 0 MORC1 27136 broad.mit.edu 37 3 108819312 108819312 + Missense_Mutation SNP C C T TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr3:108819312C>T ENST00000232603.5 - 5 348 c.266G>A c.(265-267)cGg>cAg p.R89Q MORC1_ENST00000483760.1_Missense_Mutation_p.R89Q NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 89 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 GGTTGACAGCCGTTTTTTGGA 0.398000 3 147 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248524908 248524908 + Missense_Mutation SNP G G A rs140989725 TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr1:248524908G>A ENST00000366475.1 + 1 26 c.26G>A c.(25-27)aGc>aAc p.S9N NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|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;0.0265) TGGATGGCCAGCCACACTGGA 0.483000 3 70 0 0 1 0 0 OR4K14 122740 broad.mit.edu 37 14 20482441 20482441 + Missense_Mutation SNP G G C TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr14:20482441G>C ENST00000305045.2 - 1 911 c.912C>G c.(910-912)aaC>aaG p.N304K NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 304 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) TCACCCGTCGGTTTTGCAGTT 0.358000 5 142 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 4 3 0 0 1 0 0 MARCKSL1 65108 broad.mit.edu 37 1 32800539 32800540 + Frame_Shift_Ins INS - - G TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr1:32800539_32800540insG ENST00000329421.7 - 2 591_592 c.246_247insC c.(244-249)ccaggafs p.G83fs NM_023009.6 NP_075385.1 P49006 MRP_HUMAN MARCKS-like 1 83 plasma membrane calmodulin binding p.K83fs*33(2) breast(1)|large_intestine(3)|lung(1)|ovary(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GGGGTCTCCTTGGGGGGGACCT 0.589 12 55 --- --- --- --- PBXIP1 57326 broad.mit.edu 37 1 154917508 154917510 + In_Frame_Del DEL GGT GGT - rs143592003 TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr1:154917508_154917510delGGT ENST00000368463.3 - 11 2257_2259 c.2186_2188delACC c.(2185-2190)cgg>c p.HR729del PBXIP1_ENST00000539880.1_In_Frame_Del_p.HR556del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.HR700del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.HR574del NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 729 His-rich. cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGTCAGCCCCGGTGGTGGTGGTG 0.640 7 140 --- --- --- --- AC019118.2 0 broad.mit.edu 37 2 2910378 2910379 + RNA INS - - C rs72051156 by1000genomes TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr2:2910378_2910379insC ENST00000457478.1 - 0 594 ACAGCCGCCCACCCTACACCTT 0.639 4 2 --- --- --- --- RRH 10692 broad.mit.edu 37 4 110756541 110756541 + Frame_Shift_Del DEL T T - TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr4:110756541delT ENST00000317735.4 + 3 351 c.317delT c.(316-318)atfs p.I106fs NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 106 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) GGATTGAATATTTTTTTTGGA 0.393 8 96 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085495 11085497 + RNA DEL AAA AAA - rs79040424 TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr21:11085495_11085497delAAA 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) catcaccactaaaaccacgacca 0.567 3 6 --- --- --- ---