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 EPHA10 284656 broad.mit.edu 37 1 38192843 38192843 + Missense_Mutation SNP A A G TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr1:38192843A>G ENST00000373048.4 - 8 1702 c.1703T>C c.(1702-1704)gTc>gCc p.V568A EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.V568A|EPHA10_ENST00000540011.1_Missense_Mutation_p.V63A|EPHA10_ENST00000330210.7_Missense_Mutation_p.V63A NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 568 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACTACGGTGACGACAATGGC 0.642 3 23 --- --- --- --- FAM151A 338094 broad.mit.edu 37 1 55075174 55075174 + Missense_Mutation SNP A A G TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr1:55075174A>G ENST00000302250.2 - 8 1685 c.1525T>C c.(1525-1527)Tcc>Ccc p.S509P FAM151A_ENST00000371304.2_Missense_Mutation_p.S322P|ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000371316.3_Intron NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 509 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 ATCTGGAAGGACACAGGTTGC 0.632 21 103 --- --- --- --- CCT4 10575 broad.mit.edu 37 2 62099698 62099698 + Missense_Mutation SNP T T C TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr2:62099698T>C ENST00000394440.3 - 11 1447 c.1151A>G c.(1150-1152)aAa>aGa p.K384R CCT4_ENST00000544079.1_Missense_Mutation_p.K354R|CCT4_ENST00000538252.1_Missense_Mutation_p.K328R|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544185.1_Missense_Mutation_p.K234R|AC107081.5_ENST00000425779.1_RNA NM_006430.3 NP_006421.2 P50991 TCPD_HUMAN chaperonin containing TCP1, subunit 4 (delta) 384 'de novo' posttranslational protein folding melanosome|microtubule organizing center|nucleus ATP binding|unfolded protein binding breast(1)|large_intestine(2)|lung(6)|ovary(2) 11 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221) TGTAACTGTTTTTCCAGGGCT 0.448 14 42 --- --- --- --- IGKV2-30 28919 broad.mit.edu 37 2 89544386 89544386 + RNA SNP C C G TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr2:89544386C>G ENST00000468494.1 - 0 267 ACCCCAGAGTCCCGGTTAGAA 0.498 41 156 --- --- --- --- COL6A3 1293 broad.mit.edu 37 2 238283426 238283426 + Missense_Mutation SNP C C T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr2:238283426C>T ENST00000295550.4 - 8 3760 c.3308G>A c.(3307-3309)gGg>gAg p.G1103E COL6A3_ENST00000347401.3_Missense_Mutation_p.G902E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G496E|COL6A3_ENST00000392004.3_Missense_Mutation_p.G897E|COL6A3_ENST00000392003.2_Missense_Mutation_p.G696E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G897E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G903E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G897E NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1103 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGGGGTCGGCCCTCCCAGCAG 0.617 15 37 --- --- --- --- CNTN6 27255 broad.mit.edu 37 3 1367541 1367541 + Missense_Mutation SNP C C T rs150393896 by1000genomes TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr3:1367541C>T ENST00000446702.2 + 9 1616 c.989C>T c.(988-990)tCt>tTt p.S330F CNTN6_ENST00000539053.1_Missense_Mutation_p.S258F|CNTN6_ENST00000350110.2_Missense_Mutation_p.S330F Q9UQ52 CNTN6_HUMAN contactin 6 330 Ig-like C2-type 4. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) ACACACCTCTCTATCTATGAC 0.418 12 62 --- --- --- --- SRGAP3 9901 broad.mit.edu 37 3 9055452 9055452 + Missense_Mutation SNP C C T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr3:9055452C>T ENST00000383836.3 - 16 2315 c.1888G>A c.(1888-1890)Gtc>Atc p.V630I SRGAP3_ENST00000360413.3_Missense_Mutation_p.V606I NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 630 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TATCTCATGACCACAATGACC 0.557 T RAF1 pilocytic astrocytoma 8 42 --- --- --- --- DNAJC13 23317 broad.mit.edu 37 3 132196704 132196704 + Missense_Mutation SNP T T A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr3:132196704T>A ENST00000260818.6 + 23 2765 c.2517T>A c.(2515-2517)gaT>gaA p.D839E NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 839 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TGGAGGAAGATGAGAATGAAG 0.348 17 104 --- --- --- --- ATP8A1 10396 broad.mit.edu 37 4 42576684 42576684 + Missense_Mutation SNP C C T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr4:42576684C>T ENST00000381668.5 - 14 1478 c.1247G>A c.(1246-1248)tGc>tAc p.C416Y ATP8A1_ENST00000264449.10_Missense_Mutation_p.C416Y NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 416 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) CATTACATTGCATGTCAGAGT 0.308 16 81 --- --- --- --- NAA15 80155 broad.mit.edu 37 4 140297585 140297585 + Missense_Mutation SNP A A G TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr4:140297585A>G ENST00000296543.5 + 16 2337 c.2014A>G c.(2014-2016)Ata>Gta p.I672V NAA15_ENST00000398947.1_Missense_Mutation_p.I672V NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 672 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 GAAGAACAAGATAGAGACTCA 0.333 12 45 --- --- --- --- PCDHA1 56147 broad.mit.edu 37 5 140168038 140168038 + Silent SNP G G T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr5:140168038G>T ENST00000504120.2 + 1 2163 c.2163G>T c.(2161-2163)ctG>ctT p.L721L PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.L721L NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACGGCGCTGCGGTGCTCAG 0.657 4 49 --- --- --- --- RANBP9 10048 broad.mit.edu 37 6 13625976 13625976 + Silent SNP T T C TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr6:13625976T>C ENST00000011619.3 - 13 2026 c.1968A>G c.(1966-1968)gcA>gcG p.A656A RANBP9_ENST00000539980.1_Silent_p.A427A|NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000469916.1_5'UTR NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 656 Interaction with FMR1. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) GATCTGAATATGCTAGTAGAC 0.388 26 68 --- --- --- --- HIST1H3C 8352 broad.mit.edu 37 6 26045770 26045770 + Silent SNP G G A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr6:26045770G>A ENST00000540144.1 + 1 132 c.132G>A c.(130-132)ccG>ccA p.P44P NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 44 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 GCTACCGCCCGGGCACCGTGG 0.647 6 68 --- --- --- --- CHRM2 1129 broad.mit.edu 37 7 136699850 136699850 + Missense_Mutation SNP T T C TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr7:136699850T>C ENST00000445907.2 + 3 766 c.238T>C c.(238-240)Tac>Cac p.Y80H hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.Y80H|CHRM2_ENST00000453373.1_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.Y80H|CHRM2_ENST00000402486.3_Missense_Mutation_p.Y80H|CHRM2_ENST00000397608.3_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000592183.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 80 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CATGAACTTGTACACCCTCTA 0.468 22 90 --- --- --- --- ST3GAL1 6482 broad.mit.edu 37 8 134472109 134472109 + Silent SNP C C T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr8:134472109C>T ENST00000319914.5 - 9 1948 c.921G>A c.(919-921)gcG>gcA p.A307A ST3GAL1_ENST00000521180.1_Silent_p.A307A|ST3GAL1_ENST00000522652.1_Silent_p.A307A|ST3GAL1_ENST00000399640.2_Silent_p.A307A Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 1 307 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) GAAAAGCCCCCGCGGATGGGT 0.552 4 167 --- --- --- --- PDE6C 5146 broad.mit.edu 37 10 95399905 95399905 + Silent SNP T T C TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr10:95399905T>C ENST00000371447.3 + 12 1699 c.1561T>C c.(1561-1563)Ttg>Ctg p.L521L NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 521 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) AGAGCACGGATTGATTAAATG 0.413 17 47 --- --- --- --- TACC2 10579 broad.mit.edu 37 10 123844843 123844843 + Missense_Mutation SNP C C T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr10:123844843C>T ENST00000369005.1 + 4 3168 c.2828C>T c.(2827-2829)gCa>gTa p.A943V TACC2_ENST00000453444.2_Missense_Mutation_p.A943V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.A943V|TACC2_ENST00000515273.1_Missense_Mutation_p.A943V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A943V NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 943 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) AAGTTGCCTGCACTAGGGGAG 0.527 22 66 --- --- --- --- USP35 57558 broad.mit.edu 37 11 77917055 77917055 + Missense_Mutation SNP C C T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr11:77917055C>T ENST00000441408.2 + 5 684 c.119C>T c.(118-120)tCc>tTc p.S40F USP35_ENST00000530267.1_Silent_p.I23I|USP35_ENST00000526425.1_Silent_p.I186I|USP35_ENST00000529308.1_Silent_p.I455I|USP35_ENST00000530535.1_Intron Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 0 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) TCAACAGCATCCTTCAGGCCT 0.547 5 298 --- --- --- --- WNK1 65125 broad.mit.edu 37 12 994555 994555 + Missense_Mutation SNP C C G TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr12:994555C>G ENST00000537687.1 + 19 6008 c.5365C>G c.(5365-5367)Cta>Gta p.L1789V WNK1_ENST00000315939.6_Missense_Mutation_p.L1529V|WNK1_ENST00000530271.2_Missense_Mutation_p.L2027V|WNK1_ENST00000535572.1_Missense_Mutation_p.L1282V|WNK1_ENST00000340908.4_Missense_Mutation_p.L1122V NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1529 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CGCACACTCACTAGATAAGAC 0.468 64 166 --- --- --- --- IL4R 3566 broad.mit.edu 37 16 27367221 27367221 + Missense_Mutation SNP A A C TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr16:27367221A>C ENST00000395762.2 + 8 1022 c.763A>C c.(763-765)Atc>Ctc p.I255L IL4R_ENST00000170630.2_Missense_Mutation_p.I255L|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Missense_Mutation_p.I240L|IL4R_ENST00000543915.2_Missense_Mutation_p.I255L NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 255 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 CTATGTCAGCATCACCAAGTG 0.612 6 42 --- --- --- --- EVPL 2125 broad.mit.edu 37 17 74006445 74006445 + Silent SNP G G C TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr17:74006445G>C ENST00000301607.3 - 22 3094 c.2841C>G c.(2839-2841)acC>acG p.T947T EVPL_ENST00000586740.1_Silent_p.T969T NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 947 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 AGGGCCGCTGGGTCCTCAGCT 0.667 11 36 --- --- --- --- ZNF750 79755 broad.mit.edu 37 17 80790121 80790121 + Silent SNP T T G TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr17:80790121T>G ENST00000269394.3 - 2 1043 c.210A>C c.(208-210)tcA>tcC p.S70S TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 70 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGGGGTCTAGTGAGTTAGATT 0.473 21 86 --- --- --- --- EPB41L3 23136 broad.mit.edu 37 18 5398057 5398057 + Missense_Mutation SNP A A G TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr18:5398057A>G ENST00000341928.2 - 17 2775 c.2435T>C c.(2434-2436)aTa>aCa p.I812T EPB41L3_ENST00000342933.3_Missense_Mutation_p.I812T|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542146.1_Missense_Mutation_p.I117T|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Missense_Mutation_p.I643T|EPB41L3_ENST00000427684.2_Missense_Mutation_p.I109T NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 812 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 AACCCCTCCTATGAATTCTGT 0.443 38 163 --- --- --- --- PHACTR3 116154 broad.mit.edu 37 20 58348360 58348360 + Missense_Mutation SNP A A T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr20:58348360A>T ENST00000371015.1 + 6 1245 c.778A>T c.(778-780)Agc>Tgc p.S260C PHACTR3_ENST00000361300.4_Missense_Mutation_p.S149C|PHACTR3_ENST00000359926.3_Missense_Mutation_p.S257C|PHACTR3_ENST00000355648.4_Missense_Mutation_p.S219C|PHACTR3_ENST00000395639.4_Missense_Mutation_p.S149C|PHACTR3_ENST00000541461.1_Missense_Mutation_p.S219C|PHACTR3_ENST00000395636.2_Missense_Mutation_p.S219C NM_001281507.1|NM_080672.3 NP_001268436.1|NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 260 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CCAAGCCTCCAGCATGAAGAG 0.632 22 57 --- --- --- --- ALMS1 7840 broad.mit.edu 37 2 73835695 73835696 + Frame_Shift_Ins INS - - A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr2:73835695_73835696insA ENST00000264448.6 + 22 12564_12565 c.12453_12454insA c.(12454-12456)aaafs p.K4152fs ALMS1_ENST00000409009.1_Frame_Shift_Ins_p.K4110fs NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4152 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CCCAGCTATATAAAAAGGTCAG 0.426 7 25 --- --- --- ---