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 ATXN2L 11273 broad.mit.edu 37 16 28845421 28845421 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr16:28845421C>T ENST00000336783.4 + 16 2228 c.2061C>T c.(2059-2061)ccC>ccT p.P687P ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000325215.6_Silent_p.P687P|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Silent_p.P693P|ATXN2L_ENST00000395547.2_Silent_p.P687P|ATXN2L_ENST00000570200.1_Silent_p.P687P|ATXN2L_ENST00000382686.4_Silent_p.P687P|ATXN2L_ENST00000340394.8_Silent_p.P687P NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 687 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CTCCGGGGCCCCGGACTCATT 0.522000 9 71 0 0 0.00136819 0 0 RHOH 399 broad.mit.edu 37 4 40245228 40245228 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:40245228G>A ENST00000381799.4 + 3 946 c.222G>A c.(220-222)caG>caA p.Q74Q RHOH_ENST00000505618.1_Silent_p.Q74Q NM_001278363.1|NM_001278365.1|NM_004310.3 NP_001265292.1|NP_001265294.1|NP_004301.1 Q15669 RHOH_HUMAN ras homolog family member H 74 Interaction with ZAP70 (By similarity). negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding kidney(1)|large_intestine(3)|lung(7)|ovary(1) 12 TGTCCTACCAGCAGGCAGACG 0.552000 9 36 0 0 0.000442599 0 0 MYO3A 53904 broad.mit.edu 37 10 26241128 26241128 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:26241128G>A ENST00000265944.5 + 3 255 c.89G>A c.(88-90)gGa>gAa p.G30E MYO3A_ENST00000376301.1_Missense_Mutation_p.G30E|MYO3A_ENST00000543632.1_Missense_Mutation_p.G30E|MYO3A_ENST00000376302.1_Missense_Mutation_p.G30E NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 30 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 ATTGGCAAAGGAACTTATGGG 0.323000 9 68 0 0 0.000274275 0 0 OR4K1 79544 broad.mit.edu 37 14 20404056 20404056 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr14:20404056C>T ENST00000285600.4 + 1 290 c.231C>T c.(229-231)gcC>gcT p.A77A NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) CTAACTTTGCCACCCCCAAGA 0.388000 18 134 0 0 0.00074312 0 0 FOXM1 2305 broad.mit.edu 37 12 2973634 2973634 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:2973634C>T ENST00000342628.2 - 8 1231 c.1118G>A c.(1117-1119)cGg>cAg p.R373Q FOXM1_ENST00000359843.3_Missense_Mutation_p.R373Q|FOXM1_ENST00000361953.3_Missense_Mutation_p.R358Q NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 373 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) TGAGCTGACCCGTGGTAGCAG 0.597000 7 36 0 0 0.000157383 0 0 EPHA1 2041 broad.mit.edu 37 7 143098582 143098582 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:143098582C>T ENST00000275815.3 - 3 353 c.267G>A c.(265-267)ggG>ggA p.G89G NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 89 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) AAGCCTCCTCCCCGCGGTAGA 0.607000 30 98 0 0 0.000491102 0 0 TOMM70A 9868 broad.mit.edu 37 3 100093971 100093971 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:100093971C>T ENST00000284320.5 - 7 1566 c.1118G>A c.(1117-1119)aGa>aAa p.R373K NM_014820.4 NP_055635.3 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) 373 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 32 CATGCTGCCTCTTTTGATGAG 0.413000 27 133 0 0 0.000339439 0 0 PYGB 5834 broad.mit.edu 37 20 25274902 25274902 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr20:25274902C>T ENST00000216962.4 + 18 2396 c.2286C>T c.(2284-2286)atC>atT p.I762I PYGB_ENST00000471359.1_3'UTR NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 762 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) TCAAGGACATCGTGAACATGC 0.592000 OREG0025844 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 48 0 0 0.000308642 0 0 CUBN 8029 broad.mit.edu 37 10 16911829 16911829 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:16911829G>A ENST00000377833.4 - 59 9325 c.9260C>T c.(9259-9261)cCc>cTc p.P3087L NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3087 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGAGGTGGAGGGAACCACATC 0.438000 7 37 0 0 8.12818e-05 0 0 KLK7 5650 broad.mit.edu 37 19 51483090 51483090 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:51483090G>A ENST00000391807.1 - 5 661 c.560C>T c.(559-561)tCc>tTc p.S187F CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Missense_Mutation_p.S187F|KLK7_ENST00000597707.1_Missense_Mutation_p.S115F|KLK7_ENST00000336317.4_Missense_Mutation_p.S74F NM_139277.2 NP_644806.1 P49862 KLK7_HUMAN kallikrein-related peptidase 7 187 Peptidase S1. epidermis development|proteolysis extracellular region serine-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) GCACAGCATGGAATTTTCCAG 0.567000 3 3 0 0 6.4e-05 0 0 VWA8 23078 broad.mit.edu 37 13 42293798 42293798 + Silent SNP T T G TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr13:42293798T>G ENST00000379310.3 - 26 3113 c.3045A>C c.(3043-3045)atA>atC p.I1015I VWA8_ENST00000281496.6_Silent_p.I1015I NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 TGTTAATCAATATCTCCCTCA 0.393000 20 59 0 0 0.000586117 0 0 OTOGL 283310 broad.mit.edu 37 12 80704456 80704456 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:80704456G>A ENST00000458043.2 + 29 3378 c.3372G>A c.(3370-3372)aaG>aaA p.K1124K OTOGL_ENST00000547103.1_Silent_p.K1124K NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CTTATGCCAAGAAAGAATGCT 0.333000 11 72 0 0 0.00185496 0 0 PKD1L2 114780 broad.mit.edu 37 16 81222604 81222604 + Splice_Site SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr16:81222604C>T ENST00000599697.1 - 10 1671 c.e10-1 PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CTTTATCTTTCTGCAAAAAAA 0.517000 19 56 0 0 0.00152264 0 0 WFS1 7466 broad.mit.edu 37 4 6296781 6296781 + Silent SNP C C T rs71524381 TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:6296781C>T ENST00000226760.1 + 7 896 c.726C>T c.(724-726)atC>atT p.I242I WFS1_ENST00000503569.1_Silent_p.I242I NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 242 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) AGAACTACATCGCGCTGGATG 0.592000 38 153 0 0 0.00148497 0 0 ABHD16A 7920 broad.mit.edu 37 6 31659677 31659677 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:31659677G>A ENST00000395952.3 - 8 807 c.645C>T c.(643-645)acC>acT p.T215T XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000375842.4_5'UTR|ABHD16A_ENST00000440843.2_Silent_p.T182T NM_021160.2 NP_066983.1 O95870 ABHGA_HUMAN abhydrolase domain containing 16A 215 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 GGCGCCCTAGGGTGTGCGCCA 0.627000 42 38 0 0 0.000509022 0 0 CRTAP 10491 broad.mit.edu 37 3 33171502 33171502 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:33171502C>T ENST00000320954.6 + 4 964 c.865C>T c.(865-867)Ccg>Tcg p.P289S CRTAP_ENST00000485310.1_3'UTR|CRTAP_ENST00000449224.1_Intron NM_006371.4 NP_006362.1 O75718 CRTAP_HUMAN cartilage associated protein 289 proteinaceous extracellular matrix binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 AGGAGGCTATCCGGTTGAGAA 0.383000 12 83 0 0 0.00185496 0 0 ROBO2 6092 broad.mit.edu 37 3 77600060 77600060 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:77600060C>T ENST00000461745.1 + 8 2051 c.1151C>T c.(1150-1152)tCc>tTc p.S384F ROBO2_ENST00000332191.8_Missense_Mutation_p.S384F|ROBO2_ENST00000487694.3_Missense_Mutation_p.S400F NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 384 Ig-like C2-type 4. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ATTCAACGTTCCGACGCGGGT 0.478000 12 38 0 0 0.000978159 0 0 OR11H4 390442 broad.mit.edu 37 14 20711150 20711150 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr14:20711150C>T ENST00000315409.2 + 1 253 c.200C>T c.(199-201)aCc>aTc p.T67I NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) CTACTACACACCCCCATGTAC 0.438000 8 87 0 0 0.000157383 0 0 MYO7A 4647 broad.mit.edu 37 11 76910694 76910694 + Splice_Site SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:76910694G>A ENST00000458637.2 + 35 4835 c.4568_splice c.e35-1 p.R1523_splice MYO7A_ENST00000409619.2_Splice_Site_p.R1512_splice|MYO7A_ENST00000409709.3_Silent_p.R1561R NM_001127180.1 NP_001120652.1 Q13402 MYO7A_HUMAN myosin VIIA 1561 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GGTCCTGCAGGGGAGCGAAAA 0.637000 8 13 0 0 0.000673444 0 0 CD163L1 283316 broad.mit.edu 37 12 7585176 7585176 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:7585176G>A ENST00000313599.3 - 4 659 c.602C>T c.(601-603)tCt>tTt p.S201F CD163L1_ENST00000396630.1_Missense_Mutation_p.S201F|CD163L1_ENST00000416109.2_Missense_Mutation_p.S211F Q9NR16 C163B_HUMAN CD163 molecule-like 1 201 SRCR 2. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 AGAAATAAAAGAAGATGGACA 0.468000 7 48 0 0 8.12818e-05 0 0 CD200R1L 344807 broad.mit.edu 37 3 112546506 112546506 + Missense_Mutation SNP C C A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:112546506C>A ENST00000488794.1 - 5 664 c.75G>T c.(73-75)atG>atT p.M25I CD200R1L_ENST00000448932.1_Missense_Mutation_p.M25I|CD200R1L_ENST00000398214.1_Missense_Mutation_p.M46I Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like 46 integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 CATTTATATCCATCAGTACAG 0.383000 7 92 0.000274275 0.00171775 0.000274275 1 0 PBX4 80714 broad.mit.edu 37 19 19680375 19680375 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:19680375G>A ENST00000251203.8 - 5 937 c.651C>T c.(649-651)ttC>ttT p.F217F NM_025245.2 NP_079521.1 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 217 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(4)|ovary(1)|prostate(3) 9 CCTGCTTGCTGAAATTCCGCC 0.522000 29 119 0 0 0.000409698 0 0 SF3B3 23450 broad.mit.edu 37 16 70599046 70599046 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr16:70599046C>T ENST00000302516.5 + 19 2753 c.2542C>T c.(2542-2544)Cct>Tct p.P848S NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 848 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) TGAAAACCTCCCTGAATCCAT 0.532000 15 48 0 0 0.000308642 0 0 TTN 7273 broad.mit.edu 37 2 179558399 179558399 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:179558399C>T ENST00000589042.1 - 119 31755 c.31531G>A c.(31531-31533)Gaa>Aaa p.E10511K TTN_ENST00000342992.6_Missense_Mutation_p.E9267K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10194K|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10194 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTAACAATTTCCTTTTGTACC 0.299000 6 32 0 0 8.12818e-05 0 0 KRT3 3850 broad.mit.edu 37 12 53189772 53189772 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:53189772G>A ENST00000417996.2 - 1 129 c.55C>T c.(55-57)Cgc>Tgc p.R19C KRT3_ENST00000309505.3_Missense_Mutation_p.R19C NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 19 Gly-rich.|Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 ACAGCAGAGCGGCCGGAGAAA 0.622000 7 32 0 0 0.000274275 0 0 SEC31A 22872 broad.mit.edu 37 4 83765663 83765663 + Splice_Site SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:83765663C>T ENST00000432794.1 - 21 2666 c.e21-1 SEC31A_ENST00000348405.4_Splice_Site|SEC31A_ENST00000508502.1_Splice_Site|SEC31A_ENST00000505984.1_Splice_Site|SEC31A_ENST00000448323.1_Splice_Site|SEC31A_ENST00000355196.2_Splice_Site|SEC31A_ENST00000509142.1_Splice_Site|SEC31A_ENST00000311785.7_Splice_Site|SEC31A_ENST00000326950.5_Splice_Site|SEC31A_ENST00000508479.1_Splice_Site|SEC31A_ENST00000443462.2_Splice_Site|SEC31A_ENST00000500777.2_Splice_Site|SEC31A_ENST00000264405.5_Splice_Site|SEC31A_ENST00000505472.1_Splice_Site|SEC31A_ENST00000395310.2_Splice_Site|SEC31A_ENST00000513858.1_Splice_Site O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) GATTTTCTCCCTAAGAAACAA 0.418000 5 32 0 0 0.000602214 0 0 PDZRN3 23024 broad.mit.edu 37 3 73438978 73438978 + Missense_Mutation SNP G G T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:73438978G>T ENST00000263666.4 - 7 1519 c.1405C>A c.(1405-1407)Cgc>Agc p.R469S PDZRN3_ENST00000479530.1_Missense_Mutation_p.R186S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R126S|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R191S|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R126S NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 469 PDZ 2. ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TGGATAATGCGGTCTCCTTCT 0.468000 5 87 0.00116845 0.00727623 0.00116845 1 0 OBSCN 84033 broad.mit.edu 37 1 228491568 228491568 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:228491568C>T ENST00000570156.2 + 52 14005 c.13931C>T c.(13930-13932)gCt>gTt p.A4644V OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1334V|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3687 Ig-like 47. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CGTGGCCTGGCTGTGGAGGAC 0.577000 16 46 0 0 0.000422831 0 0 KCNH1 3756 broad.mit.edu 37 1 210857365 210857365 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:210857365C>T ENST00000367007.4 - 11 2316 c.2147G>A c.(2146-2148)aGa>aAa p.R716K KCNH1_ENST00000271751.4_Missense_Mutation_p.R743K NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 743 Calmodulin-binding. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CTGTCGGAATCTCTGGAAGAG 0.582000 8 45 0 0 0.000978159 0 0 ABCC10 89845 broad.mit.edu 37 6 43413674 43413674 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:43413674C>T ENST00000244533.3 + 13 3643 c.3284C>T c.(3283-3285)aCc>aTc p.T1095I ABCC10_ENST00000372530.4_Missense_Mutation_p.T1123I NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 1123 ABC transmembrane type-1 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) ACAGGGGCCACCTACAGGTGT 0.617000 24 15 0 0 0.000878237 0 0 TRBV6-7 28600 broad.mit.edu 37 7 142144055 142144055 + RNA SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:142144055G>A ENST00000390373.2 - 0 29 GGAGAGAAAAGGCCACACAGC 0.602000 8 66 0 0 0.000442599 0 0 KDR 3791 broad.mit.edu 37 4 55955063 55955063 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:55955063C>T ENST00000263923.4 - 26 3777 c.3482G>A c.(3481-3483)gGa>gAa p.G1161E RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1161 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CAAGAGATTTCCCAAATGTTC 0.483000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 7 25 0 0 0.000673444 0 0 GATA3 2625 broad.mit.edu 37 10 8100409 8100409 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:8100409G>A ENST00000379328.3 + 3 951 c.383G>A c.(382-384)gGg>gAg p.G128E GATA3_ENST00000346208.3_Missense_Mutation_p.G128E|GATA3_ENST00000461472.1_3'UTR NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 128 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 GGCTCCCCGGGGCCCCTCTCC 0.721000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 10 53 0 0 0.000978159 0 0 KIAA1524 57650 broad.mit.edu 37 3 108300998 108300998 + Missense_Mutation SNP C C A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:108300998C>A ENST00000295746.8 - 4 485 c.409G>T c.(409-411)Ggt>Tgt p.G137C KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_5'UTR NM_020890.2 NP_065941.2 Q8TCG1 CIP2A_HUMAN KIAA1524 137 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ATATTGGCACCAGAATAGAAA 0.249000 8 199 0.000978159 0.00610862 0.000978159 1 0 MAGEC2 51438 broad.mit.edu 37 X 141291321 141291321 + Silent SNP G G A rs147374365 byFrequency TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrX:141291321G>A ENST00000247452.3 - 3 800 c.453C>T c.(451-453)ttC>ttT p.F151F NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 151 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) TGAGGAGCAGGAACTCCACTA 0.483000 HNSCC(46;0.14) 39 52 0 0 0.00111076 0 0 JMY 133746 broad.mit.edu 37 5 78610164 78610164 + Nonsense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:78610164C>T ENST00000396137.4 + 9 2611 c.2149C>T c.(2149-2151)Caa>Taa p.Q717* JMY_ENST00000412001.1_Intron NM_152405.4 NP_689618.4 Q8N9B5 JMY_HUMAN junction mediating and regulatory protein, p53 cofactor 717 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) TCCTGTTCTCCAAGAGGATCA 0.443000 16 36 0 0 0.000422831 0 0 GPR137 56834 broad.mit.edu 37 11 64055269 64055269 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:64055269C>T ENST00000539851.1 + 4 951 c.484C>T c.(484-486)Cat>Tat p.H162Y GPR137_ENST00000377702.4_Missense_Mutation_p.H162Y|GPR137_ENST00000411458.1_Missense_Mutation_p.H220Y|GPR137_ENST00000438980.2_Missense_Mutation_p.H162Y|GPR137_ENST00000313074.3_Missense_Mutation_p.H162Y NM_001177358.1 NP_001170829.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 162 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 TGTGCTCTCCCATCGGCGCCG 0.667000 21 37 0 0 0.000375601 0 0 TENM3 55714 broad.mit.edu 37 4 183659601 183659601 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:183659601G>A ENST00000511685.1 + 18 3406 c.3283G>A c.(3283-3285)Gaa>Aaa p.E1095K TENM3_ENST00000406950.2_Missense_Mutation_p.E1095K|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 p.E1095*(1) GACTCTGTGGGAAAAGAGGAC 0.468000 45 182 0 0 0.000781405 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12955495 12955495 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:12955495G>A ENST00000235347.4 - 2 263 c.184C>T c.(184-186)Ctc>Ttc p.L62F NM_001039361.3 NP_001034450.2 O60809 PRA10_HUMAN PRAME family member 10 62 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGGAGGCTGAGGAAGGGCCAG 0.582000 27 56 0 0 0.001512 0 0 SLC4A1 6521 broad.mit.edu 37 17 42337236 42337236 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:42337236G>A ENST00000262418.6 - 7 705 c.550C>T c.(550-552)Cct>Tct p.P184S AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 184 bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) GGCTGTGAAGGATCCCCAGAG 0.622000 16 43 0 0 0.000422831 0 0 PCDH10 57575 broad.mit.edu 37 4 134071430 134071430 + Silent SNP T T C rs75753256 by1000genomes TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:134071430T>C ENST00000264360.4 + 1 961 c.135T>C c.(133-135)atT>atC p.I45I NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 45 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GTCTGGACATTACAAAACTTT 0.522000 17 92 0 0 0.00152264 0 0 TRIML2 205860 broad.mit.edu 37 4 189020158 189020158 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:189020158G>A ENST00000536972.1 - 5 899 c.652C>T c.(652-654)Cat>Tat p.H218Y TRIML2_ENST00000326754.3_Intron|TRIML2_ENST00000512729.1_Intron Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 0 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) ATACTGGAATGAATTTTATTT 0.428000 6 16 0 0 0.00116845 0 0 CRY2 1408 broad.mit.edu 37 11 45882453 45882453 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:45882453C>T ENST00000443527.2 + 4 607 c.585C>T c.(583-585)gcC>gcT p.A195A CRY2_ENST00000417225.2_Silent_p.A113A|CRY2_ENST00000473199.1_Intron NM_021117.3 NP_066940.2 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) 174 DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 GCTTTCAGGCCATCATCAGCC 0.577000 13 75 0 0 0.000219431 0 0 TLL2 7093 broad.mit.edu 37 10 98180793 98180793 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:98180793C>T ENST00000357947.3 - 7 1068 c.843G>A c.(841-843)atG>atA p.M281I TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 281 Metalloprotease (By similarity). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CCCCAGCTTCCATTTTTAAGA 0.478000 8 59 0 0 0.000274275 0 0 GNAT3 346562 broad.mit.edu 37 7 80108245 80108245 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:80108245C>T ENST00000398291.3 - 4 466 c.373G>A c.(373-375)Gag>Aag p.E125K CD36_ENST00000435819.1_Intron NM_001102386.1 NP_001095856.1 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha transducing 3 125 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1) 9 TTTATTACCTCAGCCAGTTGA 0.438000 27 123 0 0 0.001512 0 0 FBN1 2200 broad.mit.edu 37 15 48703468 48703468 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr15:48703468C>T ENST00000316623.5 - 66 8790 c.8335G>A c.(8335-8337)Gaa>Aaa p.E2779K FBN1_ENST00000561429.1_5'UTR NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2779 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GGAAGGAGTTCTAGGATTCGA 0.413000 21 92 0 0 0.00188189 0 0 ANXA10 11199 broad.mit.edu 37 4 169060698 169060698 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:169060698G>A ENST00000359299.3 + 3 348 c.162G>A c.(160-162)atG>atA p.M54I NM_007193.4 NP_009124.2 Q9UJ72 ANX10_HUMAN annexin A10 54 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) AAAGGATGATGATTGCAGAGG 0.418000 11 35 0 0 0.00136819 0 0 FRMD7 90167 broad.mit.edu 37 X 131212865 131212865 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrX:131212865C>T ENST00000298542.4 - 12 1355 c.1180G>A c.(1180-1182)Gag>Aag p.E394K FRMD7_ENST00000464296.1_Missense_Mutation_p.E379K|FRMD7_ENST00000370879.1_Missense_Mutation_p.E274K NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 394 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) TTGGAatgctccagctcagtt 0.483000 28 77 0 0 0.000339439 0 0 GRIA2 2891 broad.mit.edu 37 4 158254447 158254447 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:158254447G>A ENST00000296526.7 + 8 1422 c.1097G>A c.(1096-1098)gGa>gAa p.G366E GRIA2_ENST00000507898.1_Missense_Mutation_p.G319E|GRIA2_ENST00000449365.1_Missense_Mutation_p.G319E|GRIA2_ENST00000264426.9_Missense_Mutation_p.G366E|GRIA2_ENST00000393815.2_Missense_Mutation_p.G319E NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 366 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) GACCAGAATGGAAAAAGAATA 0.363000 5 49 0 0 0.00116845 0 0 SBK2 646643 broad.mit.edu 37 19 56041206 56041206 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:56041206C>T ENST00000413299.1 - 4 978 c.941G>A c.(940-942)aGg>aAg p.R314K SBK2_ENST00000344158.3_Missense_Mutation_p.R314K NM_001101401.2 NP_001094871.2 P0C263 SBK2_HUMAN SH3 domain binding kinase family, member 2 314 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 AGCGCTCCTCCTTCGGGGGTG 0.761000 7 34 0 0 0.000157383 0 0 CNTN5 53942 broad.mit.edu 37 11 100170035 100170035 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:100170035C>T ENST00000524871.1 + 20 2817 c.2527C>T c.(2527-2529)Cct>Tct p.P843S CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.P843S|CNTN5_ENST00000528682.1_Missense_Mutation_p.P843S|CNTN5_ENST00000418526.2_Missense_Mutation_p.P769S|CNTN5_ENST00000279463.3_Missense_Mutation_p.P843S NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 843 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AAGTGTCCCTCCTCTTACTCC 0.423000 19 71 0 0 0.00152264 0 0 OR52K2 119774 broad.mit.edu 37 11 4471175 4471175 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:4471175C>T ENST00000325719.4 + 1 651 c.606C>T c.(604-606)atC>atT p.I202I NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTATGGCATCGCTGTGGCCA 0.512000 52 124 0 0 0.000781405 0 0 DIDO1 11083 broad.mit.edu 37 20 61542525 61542525 + Missense_Mutation SNP T T C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr20:61542525T>C ENST00000266070.4 - 3 765 c.440A>G c.(439-441)gAc>gGc p.D147G DIDO1_ENST00000354665.4_Missense_Mutation_p.D147G|DIDO1_ENST00000370366.1_Missense_Mutation_p.D147G|DIDO1_ENST00000370371.4_Missense_Mutation_p.D147G|DIDO1_ENST00000370368.1_Missense_Mutation_p.D147G|DIDO1_ENST00000395343.1_Missense_Mutation_p.D147G|DIDO1_ENST00000266071.5_Missense_Mutation_p.D147G|DIDO1_ENST00000395335.2_Missense_Mutation_p.D147G|DIDO1_ENST00000395340.1_Missense_Mutation_p.D147G NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 147 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) GTCATCGTGGTCATCCCCTCC 0.577000 5 46 0 0 0.000602214 0 0 DDX26B 203522 broad.mit.edu 37 X 134706811 134706811 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrX:134706811G>A ENST00000370752.4 + 11 1693 c.1359G>A c.(1357-1359)gtG>gtA p.V453V DDX26B_ENST00000493637.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 453 large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) GAATTAAAGTGAAAAATCATT 0.358000 17 21 0 0 0.00074312 0 0 IL10RA 3587 broad.mit.edu 37 11 117870008 117870008 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:117870008G>A ENST00000227752.3 + 7 1509 c.1389G>A c.(1387-1389)ctG>ctA p.L463L IL10RA_ENST00000541785.1_Silent_p.L443L|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Silent_p.L314L NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 463 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) CAGGCTGCCTGGAGGAAGAAT 0.582000 13 44 0 0 0.000219431 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058153 152058153 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:152058153C>T ENST00000368806.1 - 3 2069 c.2005G>A c.(2005-2007)Gaa>Aaa p.E669K NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 669 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) ATCTCTATTTCCAGGGACTTT 0.512000 18 104 0 0 0.00188189 0 0 GUCY2C 2984 broad.mit.edu 37 12 14827622 14827622 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:14827622C>T ENST00000261170.3 - 8 1157 c.1021G>A c.(1021-1023)Gaa>Aaa p.E341K RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 341 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TCTCCATTTTCAAGAAATATC 0.358000 24 101 0 0 0.00047179 0 0 TLR4 7099 broad.mit.edu 37 9 120475443 120475443 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:120475443C>T ENST00000355622.6 + 3 1138 c.1037C>T c.(1036-1038)cCc>cTc p.P346L TLR4_ENST00000394487.4_Missense_Mutation_p.P306L|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 346 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GGACAGTTTCCCACATTGAAA 0.358000 14 82 0 0 0.000219431 0 0 SRGAP3 9901 broad.mit.edu 37 3 9057317 9057317 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:9057317G>A ENST00000383836.3 - 15 2204 c.1777C>T c.(1777-1779)Cct>Tct p.P593S SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.P569S NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 593 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) CTTTCCTTAGGAAAGAGTGGG 0.388000 T RAF1 pilocytic astrocytoma 17 56 0 0 0.000566183 0 0 PDZRN4 29951 broad.mit.edu 37 12 41587940 41587940 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:41587940G>A ENST00000402685.2 + 3 801 c.793G>A c.(793-795)Gga>Aga p.G265R NM_001164595.1 NP_001158067.1 Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 265 PDZ 1. ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TTTAGAAAATGGACCTGCTGA 0.338000 11 52 0 0 0.00185496 0 0 LRRC48 83450 broad.mit.edu 37 17 17896134 17896134 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:17896134C>T ENST00000313838.8 + 7 879 c.500C>T c.(499-501)cCt>cTt p.P167L LRRC48_ENST00000584166.1_Missense_Mutation_p.P167L|LRRC48_ENST00000399182.1_Missense_Mutation_p.P167L|LRRC48_ENST00000399187.1_Missense_Mutation_p.P167L|LRRC48_ENST00000411504.2_Missense_Mutation_p.P167L NM_001130090.1 NP_001123562.1 Q9H069 LRC48_HUMAN leucine rich repeat containing 48 167 LRRCT. cytoplasm breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1) 7 all_neural(463;0.228) TCTAGGAACCCTATCTCTGAG 0.537000 9 22 0 0 0.000442599 0 0 SPEF2 79925 broad.mit.edu 37 5 35779292 35779292 + Missense_Mutation SNP A A G TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:35779292A>G ENST00000440995.2 + 30 4276 c.4276A>G c.(4276-4278)Agc>Ggc p.S1426G CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.S1431G|SPEF2_ENST00000303129.4_5'UTR Q9C093 SPEF2_HUMAN sperm flagellar 2 1431 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACTTTATTTAAGCCAAGAAGA 0.373000 19 54 0 0 0.00188189 0 0 ANK3 288 broad.mit.edu 37 10 61831494 61831494 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:61831494G>A ENST00000280772.1 - 37 9336 c.9145C>T c.(9145-9147)Cct>Tct p.P3049S ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3049 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AAAGAATCAGGAGATTTGGTG 0.448000 20 69 0 0 0.00121646 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94879485 94879485 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:94879485C>T ENST00000289495.5 + 8 2464 c.2248C>T c.(2248-2250)Ctc>Ttc p.L750F PPP1R9A_ENST00000424654.1_Missense_Mutation_p.L750F|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.L750F|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.L772F|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.L750F|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.L750F NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 750 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) GAATGAGCATCTCAAAGAGAC 0.388000 HNSCC(28;0.073) 10 51 0 0 0.000978159 0 0 ADCY10 55811 broad.mit.edu 37 1 167852768 167852768 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:167852768C>T ENST00000367848.1 - 9 1148 c.651G>A c.(649-651)gaG>gaA p.E217E ADCY10_ENST00000367851.4_Silent_p.E309E|ADCY10_ENST00000545172.1_Silent_p.E156E Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 309 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 CTGGGCCTATCTCTTCTGCTT 0.433000 16 88 0 0 0.00074312 0 0 LVRN 206338 broad.mit.edu 37 5 115336309 115336309 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:115336309C>T ENST00000357872.4 + 9 1725 c.1601C>T c.(1600-1602)tCc>tTc p.S534F AQPEP_ENST00000395528.2_Missense_Mutation_p.S51F NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 534 proteolysis integral to membrane metallopeptidase activity|zinc ion binding AAGACATTTTCCTACTCAAAC 0.343000 7 68 0 0 0.000274275 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255358 140255358 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:140255358G>A ENST00000398631.2 + 1 301 c.301G>A c.(301-303)Gag>Aag p.E101K PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGAGCGCGGAGTGCAGTAT 0.562000 20 182 0 0 0.00152264 0 0 ATP2A2 488 broad.mit.edu 37 12 110788103 110788103 + Missense_Mutation SNP T T G TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:110788103T>G ENST00000308664.6 + 21 3661 c.2987T>G c.(2986-2988)cTg>cGg p.L996R ATP2A2_ENST00000395494.2_3'UTR NM_001681.3|NM_170665.3 NP_001672.1|NP_733765.1 P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 0 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TCAGCAATACTGGAGTAACCG 0.413000 9 45 0 0 0.000673444 0 0 MUC16 94025 broad.mit.edu 37 19 9061972 9061972 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:9061972C>T ENST00000397910.4 - 3 25677 c.25474G>A c.(25474-25476)Gaa>Aaa p.E8492K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8494 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGGCACTTTCTGCTGATTCT 0.498000 29 126 0 0 0.000692331 0 0 MYH8 4626 broad.mit.edu 37 17 10293783 10293783 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:10293783G>A ENST00000403437.2 - 40 5896 c.5802C>T c.(5800-5802)atC>atT p.I1934I CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1934 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 ACTCTGCACTGATTTTTGTGT 0.473000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 24 140 0 0 0.000878237 0 0 TECTA 7007 broad.mit.edu 37 11 121038915 121038915 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:121038915G>A ENST00000392793.1 + 19 6010 c.5739G>A c.(5737-5739)aaG>aaA p.K1913K TECTA_ENST00000264037.2_Silent_p.K1913K O75443 TECTA_HUMAN tectorin alpha 1913 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CTGTTGTGAAGCCTATGCTAA 0.428000 11 92 0 0 0.000308642 0 0 OR9G1 390174 broad.mit.edu 37 11 56468589 56468589 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:56468589C>T ENST00000312153.1 + 1 726 c.726C>T c.(724-726)tcC>tcT p.S242S NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 p.S242S(1) breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 CATGCTCCTCCCACCTGACCT 0.478000 19 234 0 0 0.000586117 0 0 TOP2A 7153 broad.mit.edu 37 17 38568043 38568043 + Missense_Mutation SNP T T C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:38568043T>C ENST00000423485.1 - 8 975 c.817A>G c.(817-819)Atg>Gtg p.M273V NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 273 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) TTCAAATACATGTCCACATAA 0.333000 10 40 0 0 0.000219431 0 0 CSMD3 114788 broad.mit.edu 37 8 113293492 113293492 + Missense_Mutation SNP G G C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:113293492G>C ENST00000297405.5 - 59 9663 c.9419C>G c.(9418-9420)tCc>tGc p.S3140C CSMD3_ENST00000343508.3_Missense_Mutation_p.S3100C|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2971C|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3070C NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3140 Sushi 23. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTCCATGCAGGAATAAATGAC 0.423000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 40 51 0 0 0.00195071 0 0 SEPT14 346288 broad.mit.edu 37 7 55863612 55863612 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:55863612C>T ENST00000388975.3 - 10 1409 c.1293G>A c.(1291-1293)aaG>aaA p.K431K NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 431 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ACTATTATTTCTTACGATGTT 0.373000 15 79 0 0 0.000422831 0 0 KLK5 25818 broad.mit.edu 37 19 51451958 51451958 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:51451958G>A ENST00000336334.3 - 5 1016 c.664C>T c.(664-666)Ccg>Tcg p.P222S KLK5_ENST00000593428.1_Missense_Mutation_p.P222S|KLK5_ENST00000391809.2_Missense_Mutation_p.P222S NM_012427.4 NP_036559.1 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 222 Peptidase S1. epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) ATCTGTCTCGGGTAAGCATCC 0.498000 9 47 0 0 0.000673444 0 0 MARCH10 162333 broad.mit.edu 37 17 60814083 60814083 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:60814083C>T ENST00000544856.2 - 7 1521 c.1143G>A c.(1141-1143)agG>agA p.R381R RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Silent_p.R382R|MARCH10_ENST00000583600.1_Silent_p.R420R|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Silent_p.R382R Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 382 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 TAGCAGATTCCCTATCAGGCA 0.537000 20 140 0 0 0.000586117 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433367 73433367 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:73433367C>T ENST00000263666.4 - 10 2464 c.2350G>A c.(2350-2352)Gag>Aag p.E784K PDZRN3_ENST00000479530.1_Missense_Mutation_p.E501K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E441K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E506K|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E441K NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 784 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CTGATGCCCTCCGCCGCTCTC 0.647000 5 21 0 0 0.00116845 0 0 C1orf127 148345 broad.mit.edu 37 1 11008189 11008189 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:11008189G>A ENST00000377004.4 - 12 2002 c.2003C>T c.(2002-2004)tCc>tTc p.S668F C1orf127_ENST00000377008.4_Missense_Mutation_p.S501F NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 519 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) ACTTGGGGTGGAGAATGTGGC 0.642000 21 26 0 0 0.00152264 0 0 ALDH3A2 224 broad.mit.edu 37 17 19575037 19575037 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:19575037C>T ENST00000176643.6 + 9 1657 c.1211C>T c.(1210-1212)tCc>tTc p.S404F ALDH3A2_ENST00000339618.4_Missense_Mutation_p.S404F|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.S404F|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.S404F|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.S404F|ALDH3A2_ENST00000571163.1_Intron P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 404 cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development endoplasmic reticulum membrane|integral to membrane 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) NADH(DB00157) ATTTCAGGTTCCAGTGGGATG 0.413000 17 74 0 0 0.000958276 0 0 TENM3 55714 broad.mit.edu 37 4 183673135 183673135 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:183673135G>A ENST00000511685.1 + 20 3935 c.3812G>A c.(3811-3813)aGa>aAa p.R1271K TENM3_ENST00000406950.2_Missense_Mutation_p.R1271K|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 GACGAGGCGAGATGTGGGGAT 0.478000 5 20 0 0 0.00116845 0 0 ASH1L 55870 broad.mit.edu 37 1 155340630 155340630 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:155340630G>A ENST00000368346.3 - 11 7131 c.6492C>T c.(6490-6492)ccC>ccT p.P2164P ASH1L_ENST00000392403.3_Silent_p.P2159P Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2164 SET. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CAGCTTTTAGGGGCTCTTTGG 0.453000 19 53 0 0 0.00188189 0 0 SUCNR1 56670 broad.mit.edu 37 3 151598496 151598496 + Nonsense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:151598496G>A ENST00000362032.4 + 3 270 c.165G>A c.(163-165)tgG>tgA p.W55* RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_033050.4 NP_149039.2 Q9BXA5 SUCR1_HUMAN succinate receptor 1 55 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) TGAAGAACTGGAACAGCAGTA 0.408000 28 137 0 0 0.001512 0 0 TUBAL3 79861 broad.mit.edu 37 10 5435860 5435860 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:5435860C>T ENST00000380419.3 - 4 998 c.961G>A c.(961-963)Gcc>Acc p.A321T TUBAL3_ENST00000479328.1_Missense_Mutation_p.A281T NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 321 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 AGGCAGCAGGCCATGTACTTC 0.532000 8 40 0 0 0.000157383 0 0 ASMTL 8623 broad.mit.edu 37 X 1546837 1546837 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrX:1546837G>A ENST00000534940.1 - 7 738 c.513C>T c.(511-513)atC>atT p.I171I ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000381333.4_Silent_p.I213I|ASMTL_ENST00000381317.3_Silent_p.I229I|ASMTL_ENST00000416733.2_Silent_p.I153I NM_001173473.1 NP_001166944.1 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 229 MAF-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCGCGGCCGGGATGGAGTCGT 0.677000 10 33 0 0 0.000673444 0 0 PDE6B 5158 broad.mit.edu 37 4 650079 650079 + Nonsense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:650079C>T ENST00000255622.6 + 8 1148 c.1105C>T c.(1105-1107)Cag>Tag p.Q369* PDE6B_ENST00000429163.2_Nonsense_Mutation_p.Q90*|PDE6B_ENST00000496514.1_Nonsense_Mutation_p.Q369* NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 369 GAF 2. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GTTCAAATTTCAGGTATCTGT 0.353000 17 84 0 0 0.000958276 0 0 OR13F1 138805 broad.mit.edu 37 9 107266793 107266793 + Missense_Mutation SNP A A C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:107266793A>C ENST00000334726.2 + 1 339 c.250A>C c.(250-252)Aac>Cac p.N84H NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 AATGCTGGCAAACTTTGTTTC 0.517000 17 79 0 0 0.00074312 0 0 UBAP2 55833 broad.mit.edu 37 9 33960857 33960857 + Nonsense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:33960857C>T ENST00000379239.4 - 7 569 c.32G>A c.(31-33)tGg>tAg p.W11* UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000449054.1_Silent_p.V255V|UBAP2_ENST00000379238.1_Silent_p.V255V|UBAP2_ENST00000360802.1_Silent_p.V255V|UBAP2_ENST00000418786.2_Silent_p.V202V Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 0 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) TCCACTCTTCCACAGAATTCT 0.363000 13 51 0 0 0.000219431 0 0 NME8 51314 broad.mit.edu 37 7 37927957 37927957 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:37927957G>A ENST00000199447.4 + 15 1698 c.1326G>A c.(1324-1326)agG>agA p.R442R NME8_ENST00000440017.1_Silent_p.R442R|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 442 NDK 2. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity CCGCTGAAAGGGAAATACAGC 0.378000 14 54 0 0 0.000308642 0 0 ANGPTL5 253935 broad.mit.edu 37 11 101762107 101762107 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:101762107C>T ENST00000334289.3 - 9 1665 c.1070G>A c.(1069-1071)gGa>gAa p.G357E NM_178127.4 NP_835228.2 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 357 Fibrinogen C-terminal. signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) CCATTGAATTCCAGTTGCAAG 0.383000 33 148 0 0 0.000814825 0 0 COL4A6 1288 broad.mit.edu 37 X 107422663 107422663 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrX:107422663G>A ENST00000334504.7 - 26 2370 c.2137C>T c.(2137-2139)Cct>Tct p.P713S COL4A6_ENST00000538570.1_Missense_Mutation_p.P713S|COL4A6_ENST00000372216.4_Missense_Mutation_p.P714S|COL4A6_ENST00000545689.1_Missense_Mutation_p.P713S|COL4A6_ENST00000394872.2_Missense_Mutation_p.P714S NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 714 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CGAGGTCCAGGAAATCCTAAA 0.473000 Alport syndrome with Diffuse Leiomyomatosis 5 16 0 0 0.00116845 0 0 PAX7 5081 broad.mit.edu 37 1 19062399 19062399 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:19062399C>T ENST00000375375.3 + 8 2027 c.1429C>T c.(1429-1431)Ccc>Tcc p.P477S PAX7_ENST00000400661.3_Missense_Mutation_p.P475S|PAX7_ENST00000420770.2_Intron NM_002584.2|NM_013945.2 NP_002575.1|NP_039236.1 P23759 PAX7_HUMAN paired box 7 477 anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2) 31 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) CTGGGCGTCCCCCGTCCCCAT 0.622000 T FOXO1A alveolar rhabdomyosarcoma 7 23 0 0 8.12818e-05 0 0 GPHB5 122876 broad.mit.edu 37 14 63784486 63784486 + RNA SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr14:63784486G>A ENST00000539258.1 - 0 134 Q86YW7 GPHB5_HUMAN glycoprotein hormone beta 5 extracellular region hormone activity breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978) GGTTCCCACTGGAGGCACCGA 0.612000 9 40 0 0 0.000308642 0 0 TNN 63923 broad.mit.edu 37 1 175052944 175052944 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:175052944G>A ENST00000239462.4 + 5 1220 c.1107G>A c.(1105-1107)gtG>gtA p.V369V NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 369 Fibronectin type-III 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCCTTGACGTGGAGTGGGAAA 0.567000 9 38 0 0 0.00136819 0 0 C1orf27 54953 broad.mit.edu 37 1 186375273 186375273 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:186375273C>T ENST00000367470.3 + 11 1226 c.990C>T c.(988-990)tcC>tcT p.S330S C1orf27_ENST00000419367.3_Silent_p.S321S|C1orf27_ENST00000432021.3_Silent_p.S330S|C1orf27_ENST00000287859.6_Silent_p.S353S NM_001164245.1 NP_001157717.1 Q5SWX8 ODR4_HUMAN chromosome 1 open reading frame 27 353 integral to membrane oxidoreductase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 9 TTCCTGGATCCACTGTAATGT 0.353000 19 75 0 0 0.00152264 0 0 SPRR1B 6699 broad.mit.edu 37 1 153005041 153005041 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:153005041C>T ENST00000307098.4 + 2 285 c.220C>T c.(220-222)Cct>Tct p.P74S SPRR1B_ENST00000392661.3_Missense_Mutation_p.P58S NM_003125.2 NP_003116.2 P22528 SPR1B_HUMAN small proline-rich protein 1B 74 6 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2) 9 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGAGCCCTGCCCTTCAATAGT 0.627000 11 48 0 0 0.00185496 0 0 BMPER 168667 broad.mit.edu 37 7 34118707 34118707 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:34118707C>T ENST00000297161.2 + 13 1691 c.1317C>T c.(1315-1317)cgC>cgT p.R439R BMPER_ENST00000426693.1_Silent_p.R439R NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 439 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 TCACCGTGCGCTGGAACGGCT 0.662000 7 41 0 0 0.000442599 0 0 TTN 7273 broad.mit.edu 37 2 179442498 179442498 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:179442498C>T ENST00000589042.1 - 323 68879 c.68655G>A c.(68653-68655)tcG>tcA p.S22885S TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.S20317S|TTN_ENST00000342175.6_Silent_p.S14012S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.S13820S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.S21244S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.S13945S|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21244 Fibronectin type-III 66. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCAAGACTTCGAAGGTAGAT 0.393000 14 98 0 0 0.000308642 0 0 RABGAP1 23637 broad.mit.edu 37 9 125835866 125835866 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:125835866G>A ENST00000373647.4 + 16 2153 c.2019G>A c.(2017-2019)aaG>aaA p.K673K RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_Silent_p.K12K NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 673 Rab-GAP TBC. cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 TTCTGGTCAAGATCATGTTTG 0.443000 25 150 0 0 0.000586117 0 0 ASTN2 23245 broad.mit.edu 37 9 119568093 119568093 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:119568093C>T ENST00000313400.4 - 13 2314 c.2214G>A c.(2212-2214)gtG>gtA p.V738V ASTN2_ENST00000373996.3_Silent_p.V734V|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.V687V O75129 ASTN2_HUMAN astrotactin 2 738 EGF-like 3. integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 TGTACTCCTCCACGCAACTGT 0.478000 20 92 0 0 0.00121646 0 0 ZNF425 155054 broad.mit.edu 37 7 148801467 148801467 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:148801467G>A ENST00000378061.2 - 4 1628 c.1496C>T c.(1495-1497)cCc>cTc p.P499L NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 499 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CTCGCCGCAGGGAAACTCCTT 0.632000 8 33 0 0 0.00136819 0 0 DOCK10 55619 broad.mit.edu 37 2 225666704 225666704 + Missense_Mutation SNP A A G TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:225666704A>G ENST00000409592.3 - 40 4417 c.4304T>C c.(4303-4305)tTa>tCa p.L1435S DOCK10_ENST00000258390.7_Missense_Mutation_p.L1441S Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1441 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AATTATAGGTAAAGTTTGTGA 0.368000 40 91 0 0 0.00128727 0 0 STK36 27148 broad.mit.edu 37 2 219558013 219558013 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:219558013G>A ENST00000295709.3 + 17 2373 c.2094G>A c.(2092-2094)agG>agA p.R698R STK36_ENST00000440309.1_Silent_p.R698R|STK36_ENST00000392106.2_Silent_p.R698R|STK36_ENST00000392105.3_Silent_p.R698R NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 698 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GCCAGCTCAGGCCATCCCTCA 0.483000 7 47 0 0 8.12818e-05 0 0 GPR50 9248 broad.mit.edu 37 X 150348275 150348275 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrX:150348275G>A ENST00000218316.3 + 2 289 c.220G>A c.(220-222)Gat>Aat p.D74N NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 74 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CTCTGTGGCCGATATGCTGGT 0.498000 58 116 0 0 0.000781405 0 0 PROP1 5626 broad.mit.edu 37 5 177421179 177421179 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:177421179C>T ENST00000308304.2 - 2 578 c.270G>A c.(268-270)agG>agA p.R90R NM_006261.4 NP_006252.3 O75360 PROP1_HUMAN PROP paired-like homeobox 1 90 central nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(9)|stomach(1) 13 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGTACTGGTTCCTCCCAAAGG 0.662000 30 55 0 0 0.000409698 0 0 SIRPB1 10326 broad.mit.edu 37 20 1552525 1552525 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr20:1552525C>T ENST00000381605.4 - 3 656 c.592G>A c.(592-594)Gac>Aac p.D198N SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 198 Ig-like C1-type 1. 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 CCTGCGGGGTCCACGTTGGTC 0.557000 11 62 0 0 0.000308642 0 0 KRTAP1-1 81851 broad.mit.edu 37 17 39197549 39197549 + Missense_Mutation SNP G G C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:39197549G>C ENST00000306271.4 - 1 164 c.101C>G c.(100-102)tCc>tGc p.S34C NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 34 Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6). extracellular region|keratin filament p.S34C(6) NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCTGGCAGGAGCTGGTCTC 0.612000 5 73 0 0 0.00116845 0 0 CD163 9332 broad.mit.edu 37 12 7635291 7635291 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:7635291G>A ENST00000359156.4 - 14 3397 c.3195C>T c.(3193-3195)ttC>ttT p.F1065F CD163_ENST00000396620.3_Silent_p.F1098F|CD163_ENST00000541972.1_Silent_p.F1053F|CD163_ENST00000432237.2_Silent_p.F1065F NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1065 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 ATAATGCGACGAAAATGGCCA 0.423000 25 96 0 0 0.000720815 0 0 TRBV25-1 28562 broad.mit.edu 37 7 142378908 142378908 + RNA SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:142378908G>A ENST00000390398.3 + 0 213 CAAGATCCAGGAATGGAACTA 0.438000 15 86 0 0 0.000308642 0 0 WDR31 114987 broad.mit.edu 37 9 116079162 116079162 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:116079162C>T ENST00000374193.4 - 11 1217 c.971G>A c.(970-972)gGa>gAa p.G324E WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_Missense_Mutation_p.G199E|WDR31_ENST00000341761.4_Missense_Mutation_p.G323E NM_001012361.2|NM_145241.3 NP_001012361.1|NP_660284.1 Q8NA23 WDR31_HUMAN WD repeat domain 31 324 NS(1)|large_intestine(1)|lung(2)|prostate(2) 6 GGGTCCTGATCCATCCAGAGA 0.483000 11 34 0 0 0.00136819 0 0 KANK4 163782 broad.mit.edu 37 1 62713245 62713245 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:62713245C>T ENST00000371153.4 - 9 3160 c.2782G>A c.(2782-2784)Gat>Aat p.D928N KANK4_ENST00000354381.3_Missense_Mutation_p.D300N|KANK4_ENST00000371150.1_Missense_Mutation_p.D284N|KANK4_ENST00000317477.4_Missense_Mutation_p.D66N NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 928 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 GAGGATCCATCGTGGTCCTGC 0.627000 19 38 0 0 0.00152264 0 0 TTN 7273 broad.mit.edu 37 2 179473425 179473425 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:179473425C>T ENST00000589042.1 - 274 52537 c.52313G>A c.(52312-52314)gGa>gAa p.G17438E TTN_ENST00000342992.6_Missense_Mutation_p.G14870E|TTN_ENST00000342175.6_Missense_Mutation_p.G8565E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8373E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G15797E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8498E|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15797 Fibronectin type-III 26. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTACTCTTTTCCTTCAATCAG 0.393000 9 38 0 0 0.000673444 0 0 GCOM1 145781 broad.mit.edu 37 15 57924750 57924750 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr15:57924750C>T ENST00000574161.1 + 7 916 c.797C>T c.(796-798)gCt>gTt p.A266V GCOM1_ENST00000587652.1_Missense_Mutation_p.A266V|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000572390.1_Missense_Mutation_p.A266V|GCOM1_ENST00000380560.2_Missense_Mutation_p.A197V|GCOM1_ENST00000396180.1_Missense_Mutation_p.A235V|MYZAP_ENST00000267853.5_Missense_Mutation_p.A266V|GCOM1_ENST00000380569.2_Missense_Mutation_p.A266V|GCOM1_ENST00000380568.3_Missense_Mutation_p.A266V|MYZAP_ENST00000380565.4_Missense_Mutation_p.A266V|GCOM1_ENST00000380561.2_Missense_Mutation_p.A235V NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 266 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 GAGAAGGAGGCTCTTTTGGTG 0.463000 16 83 0 0 0.00074312 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561324 145561324 + Nonsense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:145561324C>T ENST00000355594.4 + 10 1099 c.1012C>T c.(1012-1014)Cga>Tga p.R338* NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 338 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GAACCAGATTCGAGAGCAGGC 0.577000 7 17 0 0 0.000157383 0 0 ANKRD10 55608 broad.mit.edu 37 13 111546482 111546482 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr13:111546482G>A ENST00000375758.5 - 4 657 c.523C>T c.(523-525)Ccc>Tcc p.P175S ANKRD10_ENST00000310847.4_Missense_Mutation_p.P175S|ANKRD10_ENST00000267339.2_Intron|ANKRD10_ENST00000489973.2_5'UTR Q9NXR5 ANR10_HUMAN ankyrin repeat domain 10 0 central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3) 9 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208) AAAACTGAGGGATCAAAAGTA 0.383000 18 109 0 0 0.00188189 0 0 CRHR1 1394 broad.mit.edu 37 17 43911143 43911143 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:43911143C>T ENST00000314537.5 + 11 1218 c.993C>T c.(991-993)ttC>ttT p.F331F CRHR1_ENST00000398285.3_Silent_p.F360F|CRHR1_ENST00000577353.1_Silent_p.F331F|CRHR1_ENST00000339069.5_Intron|CRHR1_ENST00000352855.5_Silent_p.F291F|CRHR1_ENST00000293493.7_Silent_p.F156F NM_001145147.1|NM_001145148.1|NM_004382.4 NP_001138619.1|NP_001138620.1|NP_004373.2 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 360 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) TGCTGTTCTTCGTCAATCCCG 0.607000 6 58 0 0 8.12818e-05 0 0 COPS2 9318 broad.mit.edu 37 15 49423006 49423006 + Nonsense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr15:49423006G>A ENST00000388901.5 - 10 1028 c.955C>T c.(955-957)Cag>Tag p.Q319* COPS2_ENST00000299259.6_Nonsense_Mutation_p.Q326*|COPS2_ENST00000542928.1_Nonsense_Mutation_p.Q255* NM_001143887.1|NM_004236.3 NP_001137359.1|NP_004227.1 P61201 CSN2_HUMAN COP9 signalosome subunit 2 319 PCI. cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2) 18 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) TCATTATTCTGATAGGCACTA 0.303000 12 57 0 0 0.00136819 0 0 A2M 2 broad.mit.edu 37 12 9225293 9225293 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:9225293C>T ENST00000318602.7 - 30 4238 c.3931G>A c.(3931-3933)Gaa>Aaa p.E1311K NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 1311 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) ATGCTGTATTCCCCAGGCAGC 0.517000 36 126 0 0 0.00195071 0 0 PAIP2 51247 broad.mit.edu 37 5 138700376 138700376 + Nonsense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:138700376C>T ENST00000394795.2 + 3 1253 c.262C>T c.(262-264)Caa>Taa p.Q88* PAIP2_ENST00000503553.2_3'UTR|PAIP2_ENST00000265192.4_Nonsense_Mutation_p.Q88*|PAIP2_ENST00000510080.1_Nonsense_Mutation_p.Q88*|PAIP2_ENST00000511706.1_Intron Q9BPZ3 PAIP2_HUMAN poly(A) binding protein interacting protein 2 88 negative regulation of translational initiation cytoplasm protein binding|translation repressor activity kidney(1)|large_intestine(2)|lung(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GGACCAAATCCAAGACCAGTT 0.373000 9 71 0 0 0.000274275 0 0 SORL1 6653 broad.mit.edu 37 11 121491909 121491909 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:121491909G>A ENST00000260197.7 + 44 6155 c.6026G>A c.(6025-6027)gGg>gAg p.G2009E SORL1_ENST00000525532.1_Missense_Mutation_p.G953E|SORL1_ENST00000534286.1_Missense_Mutation_p.G919E|SORL1_ENST00000532694.1_Missense_Mutation_p.G855E|SORL1_ENST00000527934.1_Missense_Mutation_p.G624E NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 2009 Fibronectin type-III 5. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GTCCAACTGGGGAACATGAGC 0.483000 16 44 0 0 0.000566183 0 0 VWA2 340706 broad.mit.edu 37 10 116044669 116044669 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:116044669G>A ENST00000603594.1 + 10 1258 c.937G>A c.(937-939)Gaa>Aaa p.E313K VWA2_ENST00000392982.3_Missense_Mutation_p.E313K NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 313 EGF-like 1. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) ATGTGTTCCAGAAGGACTGGA 0.607000 6 10 0 0 0.000274275 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130222625 130222625 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrX:130222625C>T ENST00000276211.5 + 12 1855 c.1510C>T c.(1510-1512)Cct>Tct p.P504S ARHGAP36_ENST00000370921.1_Missense_Mutation_p.P368S|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.P492S NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 504 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GCCAGCTGTGCCTTCCGGCAC 0.537000 4 9 0 0 0.00116845 0 0 CYP2A13 1553 broad.mit.edu 37 19 41601005 41601005 + Splice_Site SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:41601005G>A ENST00000330436.3 + 8 1303 c.1303_splice c.e8+1 p.G435_splice NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 435 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) CTTTTCCATCGGTAAGAGACC 0.567000 19 85 0 0 0.000295444 0 0 C11orf82 220042 broad.mit.edu 37 11 82641290 82641290 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:82641290G>A ENST00000533655.1 + 5 579 c.367G>A c.(367-369)Gga>Aga p.G123R C11orf82_ENST00000430323.2_Missense_Mutation_p.G123R|C11orf82_ENST00000525361.1_Missense_Mutation_p.G123R|C11orf82_ENST00000329143.3_Intron|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000524921.1_Intron|C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000525388.1_Intron NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 123 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 TTGCTTTGTTGGACAAAGCTT 0.308000 7 52 0 0 0.000442599 0 0 WDR93 56964 broad.mit.edu 37 15 90281443 90281443 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr15:90281443G>A ENST00000268130.7 + 16 2038 c.1937G>A c.(1936-1938)aGa>aAa p.R646K WDR93_ENST00000560294.1_Missense_Mutation_p.R618K|WDR93_ENST00000444934.2_Missense_Mutation_p.R363K NM_020212.1 NP_064597.1 Q6P2C0 WDR93_HUMAN WD repeat domain 93 646 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) CTGGAGAAGAGATGTGAGCGT 0.493000 29 128 0 0 0.000339439 0 0 YWHAB 7529 broad.mit.edu 37 20 43532690 43532690 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr20:43532690C>T ENST00000372839.3 + 4 631 c.357C>T c.(355-357)ttC>ttT p.F119F YWHAB_ENST00000353703.4_Silent_p.F119F|YWHAB_ENST00000479421.1_3'UTR NM_003404.3 NP_003395.1 P31946 1433B_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide 119 activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction centrosome|cytosol|melanosome|perinuclear region of cytoplasm histone deacetylase binding|phosphoserine binding|protein domain specific binding breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1) 12 Myeloproliferative disorder(115;0.0122) GTAAGGTGTTCTACTTGAAAA 0.318000 14 69 0 0 0.000219431 0 0 ZNF827 152485 broad.mit.edu 37 4 146696987 146696987 + Missense_Mutation SNP C C T rs147131944 byFrequency TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:146696987C>T ENST00000508784.1 - 10 2874 c.2647G>A c.(2647-2649)Gtc>Atc p.V883I ZNF827_ENST00000513320.1_Missense_Mutation_p.V533I|ZNF827_ENST00000379448.4_Missense_Mutation_p.V883I Q17R98 ZN827_HUMAN zinc finger protein 827 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) TCAGAGGTGACGGCGCTGACA 0.507000 10 62 0 0 0.000442599 0 0 CD300A 11314 broad.mit.edu 37 17 72477440 72477440 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:72477440C>T ENST00000360141.3 + 5 929 c.641C>T c.(640-642)tCa>tTa p.S214L CD300A_ENST00000310828.5_Missense_Mutation_p.S101L|CD300A_ENST00000361933.3_Missense_Mutation_p.S18L|CD300A_ENST00000577511.1_Missense_Mutation_p.S84L|CD300A_ENST00000392625.3_Missense_Mutation_p.S101L NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 214 cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 GGTGACCATTCAGAGCTGTCC 0.567000 12 72 0 0 0.000219431 0 0 DSG3 1830 broad.mit.edu 37 18 29040811 29040811 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr18:29040811C>T ENST00000257189.4 + 7 783 c.700C>T c.(700-702)Cgt>Tgt p.R234C NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 234 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TAGCAGCTATCGTCTGGTTGT 0.338000 6 45 0 0 0.000442599 0 0 EXOSC10 5394 broad.mit.edu 37 1 11151167 11151167 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:11151167G>A ENST00000544779.1 - 5 552 c.547C>T c.(547-549)Cct>Tct p.P183S EXOSC10_ENST00000376936.4_Missense_Mutation_p.P183S|EXOSC10_ENST00000304457.7_Missense_Mutation_p.P183S Q01780 EXOSX_HUMAN exosome component 10 183 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) TTGAGCTGAGGTCGGATGATA 0.378000 44 78 0 0 0.00170553 0 0 RP1 6101 broad.mit.edu 37 8 55541857 55541857 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:55541857C>T ENST00000220676.1 + 4 5563 c.5415C>T c.(5413-5415)ctC>ctT p.L1805L NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1805 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CTTCAGAACTCGAGGAACTGA 0.443000 8 9 0 0 0.000442599 0 0 ZNF831 128611 broad.mit.edu 37 20 57766525 57766525 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr20:57766525C>T ENST00000371030.2 + 1 451 c.451C>T c.(451-453)Cgc>Tgc p.R151C NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 151 intracellular nucleic acid binding|zinc ion binding p.R151C(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GCACTGTGGTCGCGACTGCCT 0.662000 11 76 0 0 0.00185496 0 0 ZKSCAN4 387032 broad.mit.edu 37 6 28217580 28217580 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:28217580G>A ENST00000377294.2 - 2 699 c.456C>T c.(454-456)ctC>ctT p.L152L ZKSCAN4_ENST00000423974.2_5'UTR NM_019110.3 NP_061983.2 Q969J2 ZKSC4_HUMAN zinc finger with KRAB and SCAN domains 4 152 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 TCTTGCAACAGAGCAGTTCTT 0.453000 13 153 0 0 0.00185496 0 0 CSF2RA 1438 broad.mit.edu 37 X 1401656 1401656 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrX:1401656G>A ENST00000381524.3 + 3 246 c.60G>A c.(58-60)ctG>ctA p.L20L CSF2RA_ENST00000381509.3_Silent_p.L20L|CSF2RA_ENST00000361536.3_Silent_p.L20L|CSF2RA_ENST00000381529.3_Silent_p.L20L|CSF2RA_ENST00000417535.2_Silent_p.L20L|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000355432.3_Silent_p.L20L|CSF2RA_ENST00000381500.1_Silent_p.L20L|CSF2RA_ENST00000432318.2_Silent_p.L20L|CSF2RA_ENST00000355805.2_Silent_p.L20L P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 20 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) CATTCCTCCTGATCCCAGAGA 0.537000 37 160 0 0 0.000437636 0 0 SI 6476 broad.mit.edu 37 3 164777010 164777010 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:164777010G>A ENST00000264382.3 - 11 1286 c.1224C>T c.(1222-1224)ctC>ctT p.L408L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 408 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CAAATTGAGGGAGTCCGTTAA 0.338000 HNSCC(35;0.089) 10 49 0 0 0.000442599 0 0 COX6B1 1340 broad.mit.edu 37 19 36145521 36145521 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:36145521C>T ENST00000246554.3 + 3 347 c.155C>T c.(154-156)tCt>tTt p.S52F COX6B1_ENST00000592141.1_Missense_Mutation_p.S52F|COX6B1_ENST00000392201.1_Missense_Mutation_p.S52F NM_001863.4 NP_001854.1 P14854 CX6B1_HUMAN cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) 52 respiratory electron transport chain mitochondrial inner membrane|mitochondrial intermembrane space cytochrome-c oxidase activity lung(6)|prostate(1)|stomach(1) 8 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGCGATATCTCTGTGTGCGAA 0.552000 16 70 0 0 0.00074312 0 0 HAL 3034 broad.mit.edu 37 12 96384290 96384290 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:96384290G>A ENST00000261208.3 - 10 1104 c.736C>T c.(736-738)Cca>Tca p.P246S HAL_ENST00000541929.1_Missense_Mutation_p.P38S|HAL_ENST00000538703.1_Missense_Mutation_p.P246S NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 246 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) CCTTTCTCTGGGACATAGGGC 0.547000 9 53 0 0 0.000442599 0 0 ZPLD1 131368 broad.mit.edu 37 3 102175187 102175187 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:102175187G>A ENST00000306176.1 + 4 626 c.526G>A c.(526-528)Gaa>Aaa p.E176K ZPLD1_ENST00000466937.1_Missense_Mutation_p.E160K|ZPLD1_ENST00000491959.1_Missense_Mutation_p.E160K NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 160 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 TTATCCATTGGAATACCTGGT 0.368000 22 143 0 0 0.00047179 0 0 TFAP2B 7021 broad.mit.edu 37 6 50791300 50791300 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:50791300C>T ENST00000263046.4 + 3 455 c.289C>T c.(289-291)Cac>Tac p.H97Y TFAP2B_ENST00000393655.3_Missense_Mutation_p.H88Y|TFAP2B_ENST00000489228.1_3'UTR Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 88 Gln/Pro-rich (transactivation domain). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) CCCCTACTCCCACGTCAACGA 0.677000 5 34 0 0 0.000602214 0 0 CCR2 729230 broad.mit.edu 37 3 46399345 46399345 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:46399345G>A ENST00000292301.4 + 2 812 c.327G>A c.(325-327)ggG>ggA p.G109G CCR2_ENST00000465202.1_Intron|CCR2_ENST00000400888.2_Silent_p.G109G|CCR2_ENST00000445132.2_Silent_p.G109G NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 109 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) GGGTCTTTGGGAATGCAATGT 0.443000 58 248 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9082989 9082989 + Missense_Mutation SNP C C A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:9082989C>A ENST00000397910.4 - 1 9029 c.8826G>T c.(8824-8826)atG>atT p.M2942I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2943 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTGTGGAAGTCATCATCCTTG 0.498000 19 80 7.16444e-05 0.000449984 0.000586117 1 0 SLC2A4 6517 broad.mit.edu 37 17 7186857 7186857 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:7186857C>T ENST00000317370.8 + 3 484 c.216C>T c.(214-216)atC>atT p.I72I SLC2A4_ENST00000571308.1_Silent_p.I72I|RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000424875.2_Silent_p.I62I NM_001042.2 NP_001033.1 P14672 GTR4_HUMAN solute carrier family 2 (facilitated glucose transporter), member 4 72 carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 CCAGCTCCATCCCTCCAGGCA 0.602000 12 56 0 0 0.00136819 0 0 DNAH7 56171 broad.mit.edu 37 2 196709789 196709789 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:196709789C>T ENST00000312428.6 - 47 8982 c.8882G>A c.(8881-8883)cGa>cAa p.R2961Q NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2961 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATTCCAAGTTCGAATTGTCAC 0.363000 8 29 0 0 0.000442599 0 0 C1orf173 127254 broad.mit.edu 37 1 75078372 75078372 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:75078372G>A ENST00000326665.5 - 9 1340 c.1122C>T c.(1120-1122)tcC>tcT p.S374S C1orf173_ENST00000420661.2_Silent_p.S177S|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 374 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CTCCAAGCCTGGAACCTTTCC 0.463000 14 38 0 0 0.000219431 0 0 DNAH8 1769 broad.mit.edu 37 6 38879331 38879331 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:38879331C>T ENST00000359357.3 + 64 9431 c.9177C>T c.(9175-9177)ttC>ttT p.F3059F DNAH8_ENST00000441566.1_Silent_p.F3023F|DNAH8_ENST00000449981.2_Silent_p.F3276F dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGGTGAAGTTCATTAATGAAC 0.358000 7 62 0 0 0.000274275 0 0 SLC29A2 3177 broad.mit.edu 37 11 66138782 66138782 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:66138782C>T ENST00000357440.2 - 2 272 c.44G>A c.(43-45)gGg>gAg p.G15E SLC29A2_ENST00000546034.1_Missense_Mutation_p.G15E|SLC29A2_ENST00000544554.1_Missense_Mutation_p.G15E|SLC29A2_ENST00000311161.7_Missense_Mutation_p.G15E NM_001532.2 NP_001523.2 Q14542 S29A2_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 2 15 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 GAAGCTGATCCCGACCAGGTG 0.697000 14 29 0 0 0.00074312 0 0 IGHV1-58 28464 broad.mit.edu 37 14 107078801 107078801 + RNA SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr14:107078801C>T ENST00000390628.2 - 0 68 CCTCCAAATCCAGTCCATAGT 0.527000 6 48 0 0 0.00116845 0 0 OR1F1 4992 broad.mit.edu 37 16 3255040 3255040 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr16:3255040C>T ENST00000304646.2 + 1 794 c.794C>T c.(793-795)tCc>tTc p.S265F AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 CCTCTGTCCTCCCACTCAGCT 0.478000 57 101 0 0 0.000781405 0 0 SPATA16 83893 broad.mit.edu 37 3 172694801 172694801 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:172694801C>T ENST00000351008.3 - 5 1073 c.890G>A c.(889-891)gGa>gAa p.G297E NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 297 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) CTCTTCCCTTCCTCCACCAAG 0.393000 8 77 0 0 0.000442599 0 0 MIA3 375056 broad.mit.edu 37 1 222837433 222837433 + Nonsense_Mutation SNP G G T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:222837433G>T ENST00000344922.5 + 27 5381 c.5356G>T c.(5356-5358)Gga>Tga p.G1786* MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Nonsense_Mutation_p.G1786*|MIA3_ENST00000340535.7_Nonsense_Mutation_p.G664* NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1786 Pro-rich. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) CATTCGATATGGACCACCACC 0.537000 10 441 0.00136819 0.00849598 0.00136819 1 0 TAS2R4 50832 broad.mit.edu 37 7 141479032 141479032 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:141479032C>T ENST00000247881.2 + 1 791 c.744C>T c.(742-744)gtC>gtT p.V248V SSBP1_ENST00000465582.1_Intron NM_016944.1 NP_058640.1 Q9NYW5 TA2R4_HUMAN taste receptor, type 2, member 4 248 sensory perception of taste cilium membrane taste receptor activity endometrium(1)|large_intestine(4)|lung(2) 7 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) CTACCCTGGTCCAGTATCTCC 0.448000 17 91 0 0 0.00152264 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104208524 104208524 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr14:104208524C>T ENST00000202556.9 - 11 1707 c.1425G>A c.(1423-1425)tcG>tcA p.S475S PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_5'UTR NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 475 Pro-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) GGGAGCTTGTCGACCCAGGAC 0.622000 7 37 0 0 8.12818e-05 0 0 IGLV9-49 28773 broad.mit.edu 37 22 22697939 22697939 + RNA SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr22:22697939G>A ENST00000427632.2 + 0 264 GGGATTGTGGGATCCAAGGGG 0.552000 OREG0026357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 13 0 0 0.00024832 0 0 THAP4 51078 broad.mit.edu 37 2 242545819 242545819 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:242545819G>A ENST00000407315.1 - 3 1741 c.1310C>T c.(1309-1311)cCt>cTt p.P437L THAP4_ENST00000402136.1_Missense_Mutation_p.P25L|THAP4_ENST00000402545.1_Missense_Mutation_p.P25L NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 437 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) CCCGGCTCCAGGTGGGTCCGA 0.597000 5 7 0 0 0.00116845 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86526906 86526906 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:86526906G>A ENST00000450689.2 - 19 2786 c.2601C>T c.(2599-2601)ttC>ttT p.F867F KIAA1324L_ENST00000297222.6_Silent_p.F627F|KIAA1324L_ENST00000416314.1_Silent_p.F700F|KIAA1324L_ENST00000444627.1_Silent_p.F796F NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 867 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) TCTCCCACAGGAAATAGAACG 0.453000 5 29 0 0 0.000602214 0 0 CCDC74B 91409 broad.mit.edu 37 2 130900001 130900001 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:130900001G>A ENST00000392984.3 - 2 1298 c.555C>T c.(553-555)tcC>tcT p.S185S CCDC74B_ENST00000310463.6_Intron|CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000409128.1_Intron Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 0 endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) AGGTCCCGAGGGAGAGCATGG 0.637000 5 45 0 0 0.00116845 0 0 MALAT1 378938 broad.mit.edu 37 11 65267752 65267752 + RNA SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:65267752C>T ENST00000534336.1 + 0 2520 NR_002819.2 GAAGGACTTTCGTAACGGAAG 0.308000 13 46 0 0 0.000219431 0 0 ARHGAP19-SLIT1 100533184 broad.mit.edu 37 10 98995023 98995023 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:98995023G>A ENST00000453547.2 - 9 1234 c.1235C>T c.(1234-1236)tCc>tTc p.S412F ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.S403F|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.S403F|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.S412F|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.S412F|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.S383F TTGTACCTGGGAAGTAGAAGG 0.418000 29 148 0 0 0.000339439 0 0 EPHA10 284656 broad.mit.edu 37 1 38227462 38227462 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:38227462G>A ENST00000373048.4 - 3 464 c.465C>T c.(463-465)atC>atT p.I155I EPHA10_ENST00000319637.6_Silent_p.I155I|EPHA10_ENST00000427468.2_Silent_p.I155I NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 155 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) CGTCCGCCGCGATCGTGTCGA 0.662000 16 21 0 0 0.000308642 0 0 NPVF 64111 broad.mit.edu 37 7 25268055 25268055 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:25268055C>T ENST00000222674.2 - 1 50 c.4G>A c.(4-6)Gaa>Aaa p.E2K NM_022150.3 NP_071433.3 Q9HCQ7 RFRP_HUMAN neuropeptide VF precursor 2 neuropeptide signaling pathway extracellular region|membrane G-protein coupled receptor activity cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1) 15 GAAATAATTTCCATTTTGTCT 0.294000 9 43 0 0 0.000274275 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597125 136597125 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:136597125G>A ENST00000531224.1 - 5 1790 c.1538C>T c.(1537-1539)cCc>cTc p.P513L BCLAF1_ENST00000527536.1_Missense_Mutation_p.P513L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P511L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P511L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P511L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P340L NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 513 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GTGTAGAGGGGGACTGTAATC 0.413000 17 206 0 0 0.00121646 0 0 MROH2B 133558 broad.mit.edu 37 5 41064581 41064581 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:41064581G>A ENST00000399564.4 - 5 903 c.453C>T c.(451-453)ttC>ttT p.F151F NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CACCAATACAGAAAGTCCCCT 0.448000 7 19 0 0 8.12818e-05 0 0 PEAR1 375033 broad.mit.edu 37 1 156878777 156878777 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:156878777G>A ENST00000338302.3 + 12 1585 c.1360G>A c.(1360-1362)Gaa>Aaa p.E454K PEAR1_ENST00000292357.7_Missense_Mutation_p.E454K Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 454 integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGCTCATGTGAAAATGCCAT 0.582000 8 47 0 0 0.000157383 0 0 ACAN 176 broad.mit.edu 37 15 89386843 89386843 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr15:89386843G>A ENST00000439576.2 + 6 1389 c.1015G>A c.(1015-1017)Gac>Aac p.D339N ACAN_ENST00000558207.1_Missense_Mutation_p.D339N|ACAN_ENST00000561243.1_Missense_Mutation_p.D339N|ACAN_ENST00000559004.1_Missense_Mutation_p.D339N|ACAN_ENST00000352105.7_Missense_Mutation_p.D339N NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 339 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGGCTACCCCGACCCCTCATC 0.642000 9 43 0 0 0.000978159 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307484 39307484 + Missense_Mutation SNP T T C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:39307484T>C ENST00000541347.1 - 2 756 c.517A>G c.(517-519)Aat>Gat p.N173D CX3CR1_ENST00000358309.3_Missense_Mutation_p.N205D|CX3CR1_ENST00000399220.2_Missense_Mutation_p.N173D|CX3CR1_ENST00000542107.1_Missense_Mutation_p.N173D NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 173 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) AGGCATTCATTTTCTTTCTGC 0.547000 18 73 0 0 0.000958276 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718198 142718198 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrX:142718198C>T ENST00000381779.4 - 2 952 c.727G>A c.(727-729)Gaa>Aaa p.E243K SLITRK4_ENST00000338017.4_Missense_Mutation_p.E243K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E243K NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 243 LRRCT 1. integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) CTGGGAGTTTCACAGATAGCT 0.438000 10 20 0 0 0.000673444 0 0 OR10G2 26534 broad.mit.edu 37 14 22102951 22102951 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr14:22102951G>A ENST00000542433.1 - 1 145 c.48C>T c.(46-48)ttC>ttT p.F16F NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) CCAGAAGAATGAAATCTGTCA 0.458000 18 110 0 0 0.00152264 0 0 HK3 3101 broad.mit.edu 37 5 176316452 176316452 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:176316452C>T ENST00000292432.5 - 8 935 c.844G>A c.(844-846)Gcg>Acg p.A282T NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 282 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGTCCCAGCGCCCCATCATCG 0.642000 14 19 0 0 0.00185496 0 0 NRAS 4893 broad.mit.edu 37 1 115256528 115256528 + Missense_Mutation SNP T T G rs121913255 TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:115256528T>G ENST00000369535.4 - 3 436 c.183A>C c.(181-183)caA>caC p.Q61H NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61H(100)|p.Q61Q(3)|p.Q61L(3)|p.Q61R(2)|p.Q61K(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TGTACTCTTCTTGTCCAGCTG 0.463000 Q61H(ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61H(RD_SOFT_TISSUE) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 38 90 0 0 0.00148497 0 0 CRHR1 1394 broad.mit.edu 37 17 43910564 43910564 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:43910564C>T ENST00000314537.5 + 9 1056 c.831C>T c.(829-831)atC>atT p.I277I CRHR1_ENST00000398285.3_Silent_p.I306I|CRHR1_ENST00000577353.1_Silent_p.I277I|CRHR1_ENST00000339069.5_Silent_p.I176I|CRHR1_ENST00000352855.5_Silent_p.I237I|CRHR1_ENST00000293493.7_Silent_p.I102I NM_001145147.1|NM_001145148.1|NM_004382.4 NP_001138619.1|NP_001138620.1|NP_004373.2 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 306 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) GCCCCATGATCCTGGTCCTGC 0.592000 10 51 0 0 0.000978159 0 0 KCNJ6 3763 broad.mit.edu 37 21 39087105 39087105 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr21:39087105C>T ENST00000400482.3 - 3 944 c.355G>A c.(355-357)Gga>Aga p.G119R KCNJ6_ENST00000288309.6_Missense_Mutation_p.G119R NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 119 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) TCCATGTCTCCCCGTATGTAT 0.458000 19 65 0 0 0.00188189 0 0 IDUA 3425 broad.mit.edu 37 4 995680 995680 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:995680C>T ENST00000453894.1 + 5 750 c.662C>T c.(661-663)gCc>gTc p.A221V IDUA_ENST00000247933.4_Intron|IDUA_ENST00000514224.1_Intron P35475 IDUA_HUMAN iduronidase, alpha-L- 20 disaccharide metabolic process lysosome cation binding|L-iduronidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) GTGCGCCCTGCCCCTCCGTCC 0.736000 4 6 0 0 0.00024832 0 0 EPHB1 2047 broad.mit.edu 37 3 134670831 134670831 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:134670831G>A ENST00000398015.3 + 3 1112 c.742G>A c.(742-744)Gtg>Atg p.V248M EPHB1_ENST00000488154.1_Intron NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 248 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GGAATGGATGGTGCCTATTGG 0.572000 28 140 0 0 0.00127121 0 0 CD300A 11314 broad.mit.edu 37 17 72473669 72473669 + Splice_Site SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:72473669G>A ENST00000360141.3 + 4 916 c.628_splice c.e4+1 p.A210_splice CD300A_ENST00000310828.5_Splice_Site_p.A97_splice|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_Splice_Site_p.A80_splice|CD300A_ENST00000392625.3_Splice_Site_p.A97_splice NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 210 cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 ATGGATCAAAGGTGAGTTGGC 0.587000 11 21 0 0 0.000978159 0 0 TDRD5 163589 broad.mit.edu 37 1 179562978 179562978 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:179562978G>A ENST00000444136.1 + 3 866 c.616G>A c.(616-618)Gaa>Aaa p.E206K TDRD5_ENST00000294848.8_Missense_Mutation_p.E206K|TDRD5_ENST00000367614.1_Missense_Mutation_p.E206K NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 206 Lotus/OST-HTH 2. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TGTAACAGAGGAAAAGCCGAG 0.453000 9 43 0 0 0.000442599 0 0 CARM1 10498 broad.mit.edu 37 19 11022887 11022887 + Missense_Mutation SNP G G T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:11022887G>T ENST00000327064.4 + 5 776 c.586G>T c.(586-588)Ggg>Tgg p.G196W CARM1_ENST00000344150.4_Missense_Mutation_p.G196W NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 196 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 CTGTGGCTCTGGGATCCTGTC 0.597000 9 204 0.00136819 0.00849598 0.00136819 1 0 COL14A1 7373 broad.mit.edu 37 8 121309794 121309794 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:121309794C>T ENST00000297848.3 + 35 4551 c.4281C>T c.(4279-4281)gcC>gcT p.A1427A COL14A1_ENST00000309791.4_Silent_p.A1427A|COL14A1_ENST00000247781.3_Silent_p.A1332A NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1427 Nonhelical region (NC4). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CATCATGGGCCAATACAGACA 0.284000 12 77 0 0 0.000422831 0 0 TRRAP 8295 broad.mit.edu 37 7 98524910 98524910 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:98524910G>A ENST00000359863.4 + 23 3305 c.3096G>A c.(3094-3096)aaG>aaA p.K1032K TRRAP_ENST00000446306.3_Silent_p.K1031K|TRRAP_ENST00000355540.3_Silent_p.K1032K NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1032 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CTGTCATTAAGGACCTGCGGC 0.602000 8 49 0 0 0.000157383 0 0 RGL1 23179 broad.mit.edu 37 1 183711306 183711306 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:183711306C>T ENST00000304685.3 + 2 475 c.14C>T c.(13-15)cCt>cTt p.P5L RGL1_ENST00000536277.1_Missense_Mutation_p.P5L|RGL1_ENST00000367531.1_Missense_Mutation_p.P5L NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 0 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 GAGGTGAAACCTGTGGGAGAA 0.443000 6 43 0 0 0.000157383 0 0 RIMS4 140730 broad.mit.edu 37 20 43385568 43385568 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr20:43385568G>A ENST00000372851.3 - 5 628 c.562C>T c.(562-564)Cct>Tct p.P188S RIMS4_ENST00000541604.2_Missense_Mutation_p.P189S NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 188 C2. exocytosis|neurotransmitter transport cell junction|synapse central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) GGACTCTCAGGAAACAGCAGC 0.552000 25 152 0 0 0.000720815 0 0 NPAP1 23742 broad.mit.edu 37 15 24924064 24924064 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr15:24924064G>A ENST00000329468.2 + 1 3524 c.3050G>A c.(3049-3051)gGt>gAt p.G1017D NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTATGGATGGTGGGAGCATT 0.537000 4 29 0 0 0.00024832 0 0 GRN 2896 broad.mit.edu 37 17 42429158 42429158 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:42429158C>T ENST00000053867.3 + 10 1236 c.1174C>T c.(1174-1176)Cca>Tca p.P392S GRN_ENST00000589265.1_Missense_Mutation_p.P235S|GRN_ENST00000589923.1_3'UTR NM_002087.2 NP_002078.1 P28799 GRN_HUMAN granulin 392 signal transduction extracellular space cytokine activity|growth factor activity p.P392T(1) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CTGTCCAATCCCAGAGGTATA 0.582000 7 23 0 0 0.000274275 0 0 FCER1A 2205 broad.mit.edu 37 1 159277610 159277610 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:159277610G>A ENST00000368115.1 + 6 761 c.662G>A c.(661-663)gGa>gAa p.G221E FCER1A_ENST00000368114.1_Missense_Mutation_p.G188E NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 221 integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) GTGGACACAGGATTATTTATC 0.443000 11 75 0 0 0.000308642 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457571 110457571 + Missense_Mutation SNP A A T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:110457571A>T ENST00000378402.5 + 38 5577 c.5473A>T c.(5473-5475)Aac>Tac p.N1825Y NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1825 IPT/TIG 10. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGCTCTGGGAAACCTGACTGT 0.483000 HNSCC(38;0.096) 7 68 0 0 0.000157383 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68178328 68178328 + Missense_Mutation SNP T T C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:68178328T>C ENST00000262215.3 - 14 2425 c.2036A>G c.(2035-2037)tAc>tGc p.Y679C ARFGEF1_ENST00000520381.1_Missense_Mutation_p.Y133C NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 679 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CTGTGTACTGTAGCTGCCTAT 0.383000 25 60 0 0 0.00106085 0 0 DMXL2 23312 broad.mit.edu 37 15 51749620 51749620 + Nonsense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr15:51749620G>A ENST00000251076.5 - 36 8463 c.8176C>T c.(8176-8178)Caa>Taa p.Q2726* DMXL2_ENST00000449909.3_Nonsense_Mutation_p.Q2090*|RP11-707P17.2_ENST00000559977.1_RNA|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.Q2727* NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2726 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) GCACTGGGTTGATAAAGAGTT 0.438000 14 51 0 0 0.000422831 0 0 NACC2 138151 broad.mit.edu 37 9 138905090 138905090 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:138905090G>A ENST00000371753.1 - 4 1268 c.1210C>T c.(1210-1212)Ccc>Tcc p.P404S NACC2_ENST00000277554.2_Missense_Mutation_p.P404S Q96BF6 NACC2_HUMAN NACC family member 2, BEN and BTB (POZ) domain containing 404 BEN. negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization nuclear body endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 TTCCGGCTGGGGTCGCTGGTG 0.672000 11 66 0 0 0.00136819 0 0 NRG2 9542 broad.mit.edu 37 5 139232076 139232076 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:139232076C>T ENST00000541337.1 - 6 1516 c.1287G>A c.(1285-1287)ggG>ggA p.G429G NRG2_ENST00000289409.4_Silent_p.G489G|NRG2_ENST00000358522.3_Silent_p.G497G|NRG2_ENST00000394770.1_3'UTR|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000361474.1_Silent_p.G495G|NRG2_ENST00000289422.7_Silent_p.G503G|NRG2_ENST00000340391.3_Silent_p.G292G|NRG2_ENST00000545385.1_Silent_p.G497G NM_001184935.1 NP_001171864.1 O14511 NRG2_HUMAN neuregulin 2 495 embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAGTGGCTCCCAGAGAAGG 0.537000 29 47 0 0 0.00127121 0 0 NAP1L3 4675 broad.mit.edu 37 X 92928261 92928261 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrX:92928261G>A ENST00000373079.3 - 1 306 c.43C>T c.(43-45)Cat>Tat p.H15Y NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 15 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 GCAACCCCATGGGCGACAGGT 0.532000 12 21 0 0 0.00185496 0 0 SPATA25 128497 broad.mit.edu 37 20 44515165 44515165 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr20:44515165G>A ENST00000372519.3 - 2 719 c.675C>T c.(673-675)tcC>tcT p.S225S NM_080608.3 NP_542175.1 Q9BR10 CT165_HUMAN spermatogenesis associated 25 225 integral to membrane TCTACAAGCAGGAGCCAGGAG 0.592000 21 139 0 0 0.00047179 0 0 CDKN2AIP 55602 broad.mit.edu 37 4 184367982 184367982 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:184367982C>T ENST00000504169.1 + 3 1352 c.1145C>T c.(1144-1146)tCt>tTt p.S382F CDKN2AIP_ENST00000302350.4_3'UTR NM_017632.2 NP_060102.1 Q9NXV6 CARF_HUMAN CDKN2A interacting protein 382 Ser-rich. negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability granular component|nucleoplasm double-stranded RNA binding|p53 binding endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) ACCAGTGGATCTCTGGTTTCC 0.473000 7 52 0 0 8.12818e-05 0 0 CSH2 1443 broad.mit.edu 37 17 61950619 61950619 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:61950619G>A ENST00000336844.5 - 2 242 c.91C>T c.(91-93)Ccg>Tcg p.P31S CSH2_ENST00000560142.1_Intron|CSH2_ENST00000392886.2_Missense_Mutation_p.P31S|CSH2_ENST00000345366.7_Missense_Mutation_p.P31S NM_022644.3 NP_072170.1 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 31 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding endometrium(2)|large_intestine(1)|lung(3) 6 CTGGATAACGGAACGGTTTGG 0.607000 27 127 0 0 0.000720815 0 0 USP40 55230 broad.mit.edu 37 2 234386139 234386139 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:234386139G>A ENST00000251722.6 - 32 3724 c.3607C>T c.(3607-3609)Ctc>Ttc p.L1203F USP40_ENST00000427112.2_Missense_Mutation_p.L1203F|USP40_ENST00000450966.1_Missense_Mutation_p.L1215F Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 1203 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) TGCTCATGGAGGGCTTCTTGG 0.562000 7 25 0 0 0.000157383 0 0 PTPN22 26191 broad.mit.edu 37 1 114372239 114372239 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:114372239G>A ENST00000359785.5 - 18 2360 c.2225C>T c.(2224-2226)cCt>cTt p.P742L PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.P742L|PTPN22_ENST00000538253.1_Missense_Mutation_p.P498L|PTPN22_ENST00000528414.1_Missense_Mutation_p.P687L|PTPN22_ENST00000525799.1_Missense_Mutation_p.P615L NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051.3 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 742 P -> S (in Ref. 2; AAD27764). negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTTTTTCCAGGAGTCTTCAG 0.388000 40 70 0 0 0.000589545 0 0 FAT4 79633 broad.mit.edu 37 4 126411606 126411606 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:126411606G>A ENST00000394329.3 + 17 13642 c.13629G>A c.(13627-13629)ccG>ccA p.P4543P FAT4_ENST00000335110.5_Silent_p.P2784P NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4543 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P4543P(1)|p.P4486P(1) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGAAGAAACCGAAGGAGAAGA 0.517000 15 41 0 0 0.000308642 0 0 FAT4 79633 broad.mit.edu 37 4 126370109 126370109 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:126370109C>T ENST00000394329.3 + 9 7951 c.7938C>T c.(7936-7938)ttC>ttT p.F2646F FAT4_ENST00000335110.5_Silent_p.F944F NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2646 Cadherin 25. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 acggtggtttccctcctttct 0.368000 9 34 0 0 0.000442599 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85546093 85546093 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:85546093C>T ENST00000393217.2 + 20 4426 c.4365C>T c.(4363-4365)tcC>tcT p.S1455S NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1455 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) CATTAGATTCCACCCGCTTCC 0.373000 26 106 0 0 0.000409698 0 0 POLR3D 661 broad.mit.edu 37 8 22105716 22105716 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:22105716C>T ENST00000397802.4 + 4 626 c.411C>T c.(409-411)atC>atT p.I137I POLR3D_ENST00000306433.4_Silent_p.I137I P05423 RPC4_HUMAN polymerase (RNA) III (DNA directed) polypeptide D, 44kDa 137 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 13 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) CTTCTCATATCATCAACATCA 0.483000 21 40 0 0 0.00121646 0 0 ASTN1 460 broad.mit.edu 37 1 176833657 176833657 + Splice_Site SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:176833657C>T ENST00000367654.2 - 23 3685 c.3671_splice c.e23-1 p.R1224_splice ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Splice_Site_p.R1216_splice O14525 ASTN1_HUMAN astrotactin 1 1224 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GACCAGCTTTCCTATGGATCA 0.488000 10 40 0 0 0.000673444 0 0 S100A8 6279 broad.mit.edu 37 1 153362720 153362720 + Splice_Site SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:153362720C>T ENST00000368733.3 - 3 311 c.e3-1 S100A8_ENST00000368732.1_Splice_Site|S100A8_ENST00000477801.1_Splice_Site NM_002964.4 NP_002955.2 P05109 S10A8_HUMAN S100 calcium binding protein A8 chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) CACCCTTTTTCTGTCAAGATT 0.507000 22 112 0 0 0.000878237 0 0 IL36B 27177 broad.mit.edu 37 2 113788703 113788703 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:113788703G>A ENST00000259213.4 - 3 150 c.43C>T c.(43-45)Cgt>Tgt p.R15C IL36B_ENST00000327407.2_Missense_Mutation_p.R15C NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 15 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 CGAGAATCACGAATAGCATAG 0.473000 25 54 0 0 0.001512 0 0 ASH1L 55870 broad.mit.edu 37 1 155450538 155450538 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:155450538G>A ENST00000368346.3 - 3 2762 c.2123C>T c.(2122-2124)cCa>cTa p.P708L ASH1L_ENST00000392403.3_Missense_Mutation_p.P708L Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 708 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTTTTTTAATGGTTTGGACTG 0.398000 12 46 0 0 0.00136819 0 0 F7 2155 broad.mit.edu 37 13 113772926 113772926 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr13:113772926C>T ENST00000375581.3 + 9 1040 c.1005C>T c.(1003-1005)ttC>ttT p.F335F F7_ENST00000346342.3_Silent_p.F313F|F7_ENST00000541084.1_Silent_p.F266F NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 335 Peptidase S1. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) CGCTGGCCTTCGTGCGCTTCT 0.677000 11 24 0 0 0.00136819 0 0 DAK 26007 broad.mit.edu 37 11 61111709 61111709 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:61111709G>A ENST00000394900.3 + 13 1433 c.1204G>A c.(1204-1206)Ggc>Agc p.G402S NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 402 DhaL. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 TGCTGGTGACGGCGACTGTGG 0.627000 15 36 0 0 0.000422831 0 0 GRN 2896 broad.mit.edu 37 17 42429159 42429159 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:42429159C>T ENST00000053867.3 + 10 1237 c.1175C>T c.(1174-1176)cCa>cTa p.P392L GRN_ENST00000589265.1_Missense_Mutation_p.P235L|GRN_ENST00000589923.1_3'UTR NM_002087.2 NP_002078.1 P28799 GRN_HUMAN granulin 392 signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) TGTCCAATCCCAGAGGTATAT 0.582000 7 22 0 0 0.000274275 0 0 RGS9 8787 broad.mit.edu 37 17 63157006 63157006 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:63157006G>A ENST00000449996.3 + 6 474 c.402G>A c.(400-402)ggG>ggA p.G134G RGS9_ENST00000262406.9_Silent_p.G134G|RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Silent_p.G134G NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 134 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 AAAAGAAAGGGATTTTGGAAG 0.388000 12 95 0 0 0.000422831 0 0 PIWIL1 9271 broad.mit.edu 37 12 130832683 130832683 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:130832683G>A ENST00000245255.3 + 7 961 c.689G>A c.(688-690)cGa>cAa p.R230Q NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 230 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) CAAATTGGACGAAATTATTAT 0.333000 7 47 0 0 0.000157383 0 0 PROL1 58503 broad.mit.edu 37 4 71275139 71275139 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:71275139G>A ENST00000399575.2 + 3 268 c.94G>A c.(94-96)Ggc>Agc p.G32S PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 32 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) ATATCTACCTGGCCAGCTGCC 0.433000 6 56 0 0 8.12818e-05 0 0 PRMT3 10196 broad.mit.edu 37 11 20483679 20483679 + Missense_Mutation SNP C C T rs142036289 TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:20483679C>T ENST00000331079.6 + 12 1443 c.1226C>T c.(1225-1227)cCg>cTg p.P409L PRMT3_ENST00000437750.2_Missense_Mutation_p.P347L NM_001145167.1|NM_005788.3 NP_001138639.1|NP_005779.1 O60678 ANM3_HUMAN protein arginine methyltransferase 3 409 zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1) 17 GTTTTAGATCCGAAGACTCTT 0.348000 23 139 0 0 0.00127121 0 0 OR5H6 79295 broad.mit.edu 37 3 97983449 97983449 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:97983449G>A ENST00000383696.2 + 1 362 c.321G>A c.(319-321)atG>atA p.M107I RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 AGAGTAAGATGATATCTCTCT 0.398000 17 103 0 0 0.000422831 0 0 NACA 4666 broad.mit.edu 37 12 57110778 57110778 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:57110778G>A ENST00000454682.1 - 3 4817 c.4536C>T c.(4534-4536)tcC>tcT p.S1512S NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CCTCTTTGGGGGAAGAAGGAA 0.587000 T BCL6 NHL 12 41 0 0 0.00185496 0 0 GRIA1 2890 broad.mit.edu 37 5 153085609 153085609 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:153085609G>A ENST00000285900.5 + 11 2148 c.1805G>A c.(1804-1806)gGa>gAa p.G602E GRIA1_ENST00000340592.5_Missense_Mutation_p.G602E|GRIA1_ENST00000448073.4_Missense_Mutation_p.G612E|GRIA1_ENST00000518783.1_Missense_Mutation_p.G612E|GRIA1_ENST00000518142.1_Missense_Mutation_p.G522E|GRIA1_ENST00000521843.2_Missense_Mutation_p.G533E NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 602 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATGCAGCAAGGATGTGACATT 0.433000 22 51 0 0 0.000375601 0 0 SPAG6 9576 broad.mit.edu 37 10 22675742 22675742 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:22675742G>A ENST00000376603.2 + 5 902 c.760G>A c.(760-762)Gag>Aag p.E254K SPAG6_ENST00000313311.6_Missense_Mutation_p.E178K|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376624.3_Missense_Mutation_p.E178K|SPAG6_ENST00000538630.1_Missense_Mutation_p.E153K|SPAG6_ENST00000376601.1_Intron O75602 SPAG6_HUMAN sperm associated antigen 6 178 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 CTGTATCCAGGAGCCAGAAAT 0.463000 8 60 0 0 0.000978159 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133948566 133948566 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:133948566G>A ENST00000298622.4 + 4 1009 c.871G>A c.(871-873)Gat>Aat p.D291N NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) GGATGAAAAAGATGCCCGGCG 0.498000 5 30 0 0 0.00116845 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23826111 23826111 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:23826111G>A ENST00000264867.2 - 6 897 c.778C>T c.(778-780)Ctt>Ttt p.L260F PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 260 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) GTCAGAGGAAGAGATAAAGTT 0.348000 27 191 0 0 0.000491102 0 0 DAB1 1600 broad.mit.edu 37 1 57538063 57538063 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:57538063G>A ENST00000371236.2 - 5 594 c.331C>T c.(331-333)Cat>Tat p.H111Y DAB1_ENST00000371231.1_Missense_Mutation_p.H111Y|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000414851.2_Missense_Mutation_p.H111Y|DAB1_ENST00000371230.1_Missense_Mutation_p.H111Y|DAB1_ENST00000371234.4_Missense_Mutation_p.H111Y|DAB1_ENST00000420954.2_Missense_Mutation_p.H111Y|DAB1_ENST00000485760.1_5'UTR O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 111 PID. cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GATATTTCATGAACAGCATGA 0.408000 11 50 0 0 0.000978159 0 0 PABPC4 8761 broad.mit.edu 37 1 40036935 40036935 + Missense_Mutation SNP C C A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:40036935C>A ENST00000372857.3 - 3 1266 c.474G>T c.(472-474)atG>atT p.M158I PABPC4_ENST00000372858.3_Missense_Mutation_p.M158I|PABPC4_ENST00000372856.3_Missense_Mutation_p.M158I|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372862.3_Missense_Mutation_p.M158I NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 158 RRM 2. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GCATGCCATTCATCTTCTCGA 0.547000 49 110 9.79885e-19 6.23486e-18 0.000781405 1 0 HPX 3263 broad.mit.edu 37 11 6452878 6452878 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:6452878G>A ENST00000265983.3 - 9 1222 c.1122C>T c.(1120-1122)atC>atT p.I374I NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin 374 cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) CACCTGCCATGATATGGAGCC 0.577000 6 65 0 0 8.12818e-05 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170939 207170939 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:207170939C>T ENST00000374423.3 + 5 2073 c.1687C>T c.(1687-1689)Cgg>Tgg p.R563W NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 563 nucleic acid binding|zinc ion binding p.R563W(2) endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AACAAAACTTCGGAAGAAGGC 0.438000 5 35 0 0 0.000602214 0 0 TRBV7-1 28597 broad.mit.edu 37 7 142032317 142032317 + RNA SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:142032317C>T ENST00000547918.2 + 0 170 GATCCAATTTCAGGTCATAAT 0.502000 7 11 0 0 0.000157383 0 0 ZNF480 147657 broad.mit.edu 37 19 52825755 52825755 + Nonsense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:52825755C>T ENST00000595962.1 + 5 1318 c.1252C>T c.(1252-1254)Cga>Tga p.R418* ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.R341*|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.R375*|CTD-2525I3.6_ENST00000594379.1_RNA NM_144684.2 NP_653285.2 Q8WV37 ZN480_HUMAN zinc finger protein 480 418 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) TGCACGACATCGAAGAATTCA 0.378000 19 104 0 0 0.00074312 0 0 IPMK 253430 broad.mit.edu 37 10 59955965 59955965 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:59955965C>T ENST00000373935.3 - 6 1445 c.1123G>A c.(1123-1125)Gag>Aag p.E375K NM_152230.4 NP_689416.1 Q8NFU5 IPMK_HUMAN inositol polyphosphate multikinase 375 nucleus ATP binding|inositol trisphosphate 6-kinase activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1) 22 TCAGCAATCTCTTGGCAACCA 0.393000 25 102 0 0 0.000720815 0 0 MKI67 4288 broad.mit.edu 37 10 129906706 129906706 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:129906706G>A ENST00000368654.3 - 13 3773 c.3398C>T c.(3397-3399)cCa>cTa p.P1133L MKI67_ENST00000368653.3_Missense_Mutation_p.P773L NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1133 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGATTCTGGTGGTGGAGATTT 0.463000 43 220 0 0 0.000781405 0 0 SERTAD4 56256 broad.mit.edu 37 1 210415599 210415599 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:210415599G>A ENST00000367012.3 + 4 1218 c.988G>A c.(988-990)Gaa>Aaa p.E330K NM_019605.3 NP_062551.1 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 330 protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) CAATGTAAATGAATCTTGGAA 0.403000 7 51 0 0 8.12818e-05 0 0 WFDC8 90199 broad.mit.edu 37 20 44184421 44184421 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr20:44184421G>A ENST00000357199.4 - 4 442 c.364C>T c.(364-366)Ccc>Tcc p.P122S WFDC8_ENST00000289953.2_Missense_Mutation_p.P122S NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 122 BPTI/Kunitz inhibitor. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) TATTTGAAGGGTGTGCAGCGG 0.488000 8 51 0 0 0.000274275 0 0 DEFB124 245937 broad.mit.edu 37 20 30053465 30053465 + Splice_Site SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr20:30053465C>T ENST00000317676.2 - 2 59 c.58_splice c.e2-1 p.G20_splice NM_001037500.1 NP_001032589.1 Q8NES8 DB124_HUMAN defensin, beta 124 20 defense response to bacterium extracellular region Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) ATTCACTTCTCCCTAAACAGA 0.517000 8 49 0 0 0.000157383 0 0 ADAM19 8728 broad.mit.edu 37 5 156920179 156920179 + Silent SNP C C T rs143295058 byFrequency TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:156920179C>T ENST00000257527.4 - 16 1788 c.1710G>A c.(1708-1710)gcG>gcA p.A570A ADAM19_ENST00000394020.1_Silent_p.A572A|ADAM19_ENST00000430702.2_Silent_p.A303A|ADAM19_ENST00000517905.1_Silent_p.A570A NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 570 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCCCACACTTCGCATCTCTGG 0.562000 19 40 0 0 0.00188189 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195672 18195672 + Missense_Mutation SNP T T C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:18195672T>C ENST00000314254.3 + 1 1289 c.869T>C c.(868-870)gTt>gCt p.V290A RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 290 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 CTGAAGCTGGTTCTCCAGAGG 0.537000 24 40 0 0 0.000295444 0 0 B4GALT5 9334 broad.mit.edu 37 20 48263559 48263559 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr20:48263559G>A ENST00000371711.4 - 3 494 c.307C>T c.(307-309)Cct>Tct p.P103S NM_004776.3 NP_004767.1 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 103 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane galactosyltransferase activity|metal ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) AAGTCTTCAGGAAGAAATGTT 0.438000 5 64 0 0 0.00116845 0 0 ZNF700 90592 broad.mit.edu 37 19 12059187 12059187 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:12059187G>A ENST00000482090.1 + 3 712 c.294G>A c.(292-294)gaG>gaA p.E98E ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Silent_p.E116E|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron Q9H0M5 ZN700_HUMAN zinc finger protein 700 116 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 ACTTCCAGGAGAAGAAAGCTT 0.403000 19 120 0 0 0.00152264 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147314 26147314 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr16:26147314G>A ENST00000331351.5 + 2 1508 c.1116G>A c.(1114-1116)caG>caA p.Q372Q HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 372 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) CCAAAGTACAGGATTTTCTAG 0.502000 9 58 0 0 0.000442599 0 0 OR2A5 393046 broad.mit.edu 37 7 143747899 143747899 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:143747899C>T ENST00000408906.2 + 1 439 c.405C>T c.(403-405)atC>atT p.I135I NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) ATTCTGTCATCATGAGATGGG 0.502000 14 91 0 0 0.000422831 0 0 ZBTB39 9880 broad.mit.edu 37 12 57398536 57398536 + Nonsense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:57398536G>A ENST00000300101.2 - 2 251 c.166C>T c.(166-168)Cag>Tag p.Q56* NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 56 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 AAGAGGTTCTGGAAGTAGCCA 0.577000 39 87 0 0 0.00195071 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111926203 111926203 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr13:111926203C>T ENST00000375741.2 + 11 1429 c.1179C>T c.(1177-1179)agC>agT p.S393S ARHGEF7_ENST00000478679.1_Silent_p.S137S|ARHGEF7_ENST00000375739.2_Silent_p.S343S|ARHGEF7_ENST00000426073.2_Silent_p.S215S|ARHGEF7_ENST00000370623.3_Silent_p.S300S|ARHGEF7_ENST00000375736.4_Silent_p.S215S|ARHGEF7_ENST00000375737.5_Silent_p.S290S|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000218789.5_Silent_p.S215S|ARHGEF7_ENST00000375723.1_Silent_p.S215S|ARHGEF7_ENST00000317133.5_Silent_p.S372S|ARHGEF7_ENST00000483189.1_3'UTR NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 393 DH. apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) GTGCCAGCAGCCCTGGGATTC 0.557000 16 45 0 0 0.000958276 0 0 SLC17A4 10050 broad.mit.edu 37 6 25769267 25769267 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:25769267C>T ENST00000377905.4 + 3 265 c.146C>T c.(145-147)tCa>tTa p.S49L SLC17A4_ENST00000439485.2_Missense_Mutation_p.S49L|SLC17A4_ENST00000397076.2_5'UTR NM_005495.2 NP_005486.1 Q9Y2C5 S17A4_HUMAN solute carrier family 17, member 4 49 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TGTAATTTTTCAATTTACACC 0.478000 43 48 0 0 0.000680045 0 0 TFEB 7942 broad.mit.edu 37 6 41654895 41654895 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:41654895C>T ENST00000394283.1 - 7 1966 c.740G>A c.(739-741)cGa>cAa p.R247Q TFEB_ENST00000230323.4_Missense_Mutation_p.R247Q|TFEB_ENST00000358871.2_Missense_Mutation_p.R261Q|TFEB_ENST00000420312.1_Missense_Mutation_p.R162Q|TFEB_ENST00000403298.4_Missense_Mutation_p.R247Q|TFEB_ENST00000373033.1_Missense_Mutation_p.R247Q P19484 TFEB_HUMAN transcription factor EB 247 embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GTTGAACCTTCGTCTCCTTTC 0.557000 T ALPHA renal (childhood epithelioid) 24 36 0 0 0.00127121 0 0 MAP2K2 5605 broad.mit.edu 37 19 4117552 4117552 + Silent SNP G G A rs147814905 TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:4117552G>A ENST00000262948.5 - 2 421 c.168C>T c.(166-168)gcC>gcT p.A56A MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR NM_030662.3 NP_109587.1 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 56 activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GGGTGAGAAAGGCTTCCAGCC 0.602000 13 68 0 0 0.000219431 0 0 POLA2 23649 broad.mit.edu 37 11 65056524 65056524 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:65056524G>A ENST00000265465.3 + 12 1666 c.1135G>A c.(1135-1137)Ggc>Agc p.G379S POLA2_ENST00000541089.1_Missense_Mutation_p.G171S NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 379 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) CTTGCAGTTTGGCCCTTTCCT 0.498000 22 152 0 0 0.000586117 0 0 MIER1 57708 broad.mit.edu 37 1 67450578 67450578 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:67450578G>A ENST00000357692.2 + 15 1842 c.1585G>A c.(1585-1587)Gac>Aac p.D529N MIER1_ENST00000401042.3_Intron|MIER1_ENST00000371014.1_Intron|MIER1_ENST00000355356.3_Missense_Mutation_p.D512N|MIER1_ENST00000401041.1_Missense_Mutation_p.D565N|MIER1_ENST00000371016.1_Intron|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371018.3_Intron NM_001146110.1 NP_001139582.1 Q8N108 MIER1_HUMAN mesoderm induction early response 1, transcriptional regulator 536 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3) 15 AAACACAGATGACTAAATTTT 0.353000 21 42 0 0 0.000375601 0 0 IGKV2-30 28919 broad.mit.edu 37 2 89544428 89544428 + RNA SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:89544428C>T ENST00000468494.1 - 0 225 GGAGATTGGCCTGGCCTCTGC 0.527000 31 85 0 0 0.000781405 0 0 OTOGL 283310 broad.mit.edu 37 12 80672845 80672845 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:80672845C>T ENST00000458043.2 + 25 2806 c.2800C>T c.(2800-2802)Cca>Tca p.P934S OTOGL_ENST00000547103.1_Missense_Mutation_p.P934S NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CACATATTATCCATGCCCAGC 0.353000 26 203 0 0 0.000409698 0 0 PCNXL2 80003 broad.mit.edu 37 1 233150453 233150453 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:233150453C>T ENST00000258229.8 - 28 5144 c.4910G>A c.(4909-4911)gGg>gAg p.G1637E PCNXL2_ENST00000344698.2_Missense_Mutation_p.G289E NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1637 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) AGCTCTCCTCCCCAGGGTGCA 0.537000 10 58 0 0 0.00185496 0 0 TTN 7273 broad.mit.edu 37 2 179460364 179460364 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:179460364G>A ENST00000589042.1 - 295 57941 c.57717C>T c.(57715-57717)acC>acT p.T19239T TTN_ENST00000342992.6_Silent_p.T16671T|TTN_ENST00000342175.6_Silent_p.T10366T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.T10174T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T17598T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.T10299T|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17598 Fibronectin type-III 39. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATTTTGTCGGGTAACTGTAT 0.443000 9 20 0 0 0.000673444 0 0 SCN10A 6336 broad.mit.edu 37 3 38755548 38755548 + Silent SNP C C T rs147376215 TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:38755548C>T ENST00000449082.2 - 21 3704 c.3705G>A c.(3703-3705)gcG>gcA p.A1235A NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1235 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCAGAATCTTCGCTGTGAGAC 0.537000 11 60 0 0 0.00136819 0 0 B4GALT5 9334 broad.mit.edu 37 20 48263558 48263558 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr20:48263558G>A ENST00000371711.4 - 3 495 c.308C>T c.(307-309)cCt>cTt p.P103L NM_004776.3 NP_004767.1 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 103 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane galactosyltransferase activity|metal ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) GAAGTCTTCAGGAAGAAATGT 0.438000 5 64 0 0 0.00116845 0 0 PCLO 27445 broad.mit.edu 37 7 82545686 82545686 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:82545686G>A ENST00000423517.2 - 7 11953 c.11616C>T c.(11614-11616)acC>acT p.T3872T PCLO_ENST00000437081.1_Silent_p.T592T|PCLO_ENST00000333891.8_Silent_p.T3872T NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3803 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATTCTGTTTGGGTTTGTGGTG 0.478000 46 249 0 0 0.000781405 0 0 ZBBX 79740 broad.mit.edu 37 3 167023676 167023676 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:167023676C>T ENST00000392766.2 - 17 1820 c.1480G>A c.(1480-1482)Gaa>Aaa p.E494K ZBBX_ENST00000392767.2_Missense_Mutation_p.E494K|ZBBX_ENST00000307529.5_Missense_Mutation_p.E494K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E494K|ZBBX_ENST00000392764.1_Missense_Mutation_p.E465K NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 494 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TCAATTTTTTCAATGTCAGAA 0.318000 7 35 0 0 0.000157383 0 0 IGHV1-58 28464 broad.mit.edu 37 14 107078632 107078632 + RNA SNP T T A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr14:107078632T>A ENST00000390628.2 - 0 152 CCCAGGCTTCTTCACCTCAGG 0.562000 9 46 0 0 0.000673444 0 0 CD163 9332 broad.mit.edu 37 12 7640053 7640053 + Missense_Mutation SNP T T G TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:7640053T>G ENST00000359156.4 - 8 2154 c.1952A>C c.(1951-1953)cAc>cCc p.H651P CD163_ENST00000396620.3_Missense_Mutation_p.H684P|CD163_ENST00000541972.1_Missense_Mutation_p.H639P|CD163_ENST00000432237.2_Missense_Mutation_p.H651P NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 651 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CCCAGTGCAGTGAAACATATG 0.488000 17 53 0 0 0.000566183 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85546805 85546805 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:85546805C>T ENST00000393217.2 + 21 4484 c.4423C>T c.(4423-4425)Cct>Tct p.P1475S NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1475 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) TGAAAAGATTCCTGGAAACTT 0.284000 12 81 0 0 0.000219431 0 0 LCT 3938 broad.mit.edu 37 2 136590681 136590681 + Splice_Site SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:136590681C>T ENST00000264162.2 - 2 730 c.720_splice c.e2+1 p.Q240_splice NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 240 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CTGCTGTCACCTGGGCAAGCG 0.443000 37 210 0 0 0.000437636 0 0 ZNF883 169834 broad.mit.edu 37 9 115760460 115760460 + RNA SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:115760460G>A ENST00000427548.1 - 0 1353 P0CG24 ZN883_HUMAN zinc finger protein 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding CTGGGTCAGGGATGCAAGACA 0.388000 18 78 0 0 0.00121646 0 0 ZIM3 114026 broad.mit.edu 37 19 57647025 57647025 + Missense_Mutation SNP T T C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:57647025T>C ENST00000269834.1 - 5 1065 c.680A>G c.(679-681)aAc>aGc p.N227S NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 227 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATTTCCACAGTTCTCACATTT 0.413000 25 116 0 0 0.00106085 0 0 PCDH18 54510 broad.mit.edu 37 4 138452728 138452728 + Missense_Mutation SNP T T A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:138452728T>A ENST00000344876.4 - 1 901 c.515A>T c.(514-516)cAc>cTc p.H172L PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.H172L|PCDH18_ENST00000510305.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 172 Cadherin 2. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CGAGTATGTGTGGAGGGAATT 0.458000 6 37 0 0 8.12818e-05 0 0 UBE4B 10277 broad.mit.edu 37 1 10166366 10166366 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:10166366C>T ENST00000343090.6 + 7 996 c.921C>T c.(919-921)tcC>tcT p.S307S UBE4B_ENST00000377157.3_Intron|UBE4B_ENST00000253251.8_Intron NM_001105562.2 NP_001099032.1 O95155 UBE4B_HUMAN ubiquitination factor E4B 307 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CTGTGCCTTCCACTCCCCTCA 0.632000 13 27 0 0 0.000422831 0 0 CASD1 64921 broad.mit.edu 37 7 94167139 94167139 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:94167139C>T ENST00000297273.4 + 9 1486 c.1199C>T c.(1198-1200)tCa>tTa p.S400L NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 400 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TATACACATTCATCTTTCTTT 0.299000 13 61 0 0 0.00185496 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43800297 43800297 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr21:43800297G>A ENST00000291532.3 - 10 1932 c.977C>T c.(976-978)cCc>cTc p.P326L TMPRSS3_ENST00000398405.1_Missense_Mutation_p.P324L|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.P410L|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.P326L|TMPRSS3_ENST00000474596.1_5'UTR NM_032404.2 NP_115780.1 P57727 TMPS3_HUMAN transmembrane protease, serine 3 326 Peptidase S1. cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 TTCAGAGTTGGGCAGGCACAC 0.507000 12 29 0 0 0.00185496 0 0 OR10K2 391107 broad.mit.edu 37 1 158390110 158390110 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:158390110G>A ENST00000314902.2 - 1 546 c.547C>T c.(547-549)Cct>Tct p.P183S NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P183N(1) NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) TTGAGGACAGGAGCAATGTCA 0.443000 10 65 0 0 0.000978159 0 0 TRIM67 440730 broad.mit.edu 37 1 231349598 231349598 + Missense_Mutation SNP G G C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:231349598G>C ENST00000444294.3 + 9 3013 c.2155G>C c.(2155-2157)Gtg>Ctg p.V719L TRIM67_ENST00000366652.2_Missense_Mutation_p.V721L|TRIM67_ENST00000449018.3_Missense_Mutation_p.V659L|TRIM67_ENST00000366653.5_Missense_Mutation_p.V721L NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 721 B30.2/SPRY. cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) CACCGTGGGCGTGCTGCTGGA 0.612000 13 82 0 0 0.00185496 0 0 WDR33 55339 broad.mit.edu 37 2 128477302 128477302 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:128477302C>T ENST00000322313.4 - 16 2455 c.2297G>A c.(2296-2298)gGg>gAg p.G766E NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 766 Collagen-like. postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) ACCTTGGATCCCTTGAGACCC 0.617000 6 35 0 0 8.12818e-05 0 0 NACC2 138151 broad.mit.edu 37 9 138905089 138905089 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:138905089G>A ENST00000371753.1 - 4 1269 c.1211C>T c.(1210-1212)cCc>cTc p.P404L NACC2_ENST00000277554.2_Missense_Mutation_p.P404L Q96BF6 NACC2_HUMAN NACC family member 2, BEN and BTB (POZ) domain containing 404 BEN. negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization nuclear body endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 CTTCCGGCTGGGGTCGCTGGT 0.672000 11 66 0 0 0.00185496 0 0 TTN 7273 broad.mit.edu 37 2 179585312 179585312 + Missense_Mutation SNP G G A rs17452588 by1000genomes TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:179585312G>A ENST00000589042.1 - 80 23401 c.23177C>T c.(23176-23178)tCg>tTg p.S7726L TTN_ENST00000342992.6_Missense_Mutation_p.S6482L|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7409L|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7409 Ig-like 59. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGGAGTTCCCGAAATTTCACA 0.383000 10 40 0 0 0.000673444 0 0 PCDH12 51294 broad.mit.edu 37 5 141336804 141336804 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:141336804C>T ENST00000231484.3 - 1 1823 c.613G>A c.(613-615)Gaa>Aaa p.E205K NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 205 Cadherin 2. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAATGGATTTCCCTGTCCAGC 0.493000 30 59 0 0 0.00058488 0 0 SLC5A8 160728 broad.mit.edu 37 12 101560291 101560291 + Nonsense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:101560291G>A ENST00000536262.2 - 12 2065 c.1507C>T c.(1507-1509)Caa>Taa p.Q503* NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 503 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TTGTATATTTGAAAAACACTA 0.328000 9 49 0 0 0.000673444 0 0 SMOX 54498 broad.mit.edu 37 20 4162476 4162476 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr20:4162476C>T ENST00000305958.4 + 4 687 c.462C>T c.(460-462)ttC>ttT p.F154F SMOX_ENST00000278795.3_Silent_p.F154F|SMOX_ENST00000339123.6_Silent_p.F154F|SMOX_ENST00000379460.2_Silent_p.F154F|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000484515.1_3'UTR NM_175839.1 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase 154 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) AGGAGTTCTTCCGGCACGATA 0.527000 9 55 0 0 0.000442599 0 0 PROX2 283571 broad.mit.edu 37 14 75323691 75323691 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr14:75323691C>T ENST00000556084.2 - 2 739 c.740G>A c.(739-741)cGc>cAc p.R247H PROX2_ENST00000445876.1_Missense_Mutation_p.R474H|PROX2_ENST00000556489.2_Missense_Mutation_p.R474H NM_001080408.2 NP_001073877.2 Q3B8N5 PROX2_HUMAN prospero homeobox 2 474 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) GGTAATGCAGCGGTTGAACTG 0.448000 28 132 0 0 0.00178596 0 0 SPG7 6687 broad.mit.edu 37 16 89603247 89603247 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr16:89603247C>T ENST00000341316.2 + 10 1406 c.1399C>T c.(1399-1401)Ctc>Ttc p.L467F SPG7_ENST00000268704.2_Intron NM_199367.1 NP_955399.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 347 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) CTGCTCCTGTCTCACGGAGCC 0.582000 34 104 0 0 0.000692331 0 0 TSC2 7249 broad.mit.edu 37 16 2105450 2105450 + Missense_Mutation SNP C C T rs137854207 TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr16:2105450C>T ENST00000219476.3 + 6 1159 c.529C>T c.(529-531)Ctt>Ttt p.L177F TSC2_ENST00000568454.1_Missense_Mutation_p.L188F|TSC2_ENST00000439673.2_Missense_Mutation_p.L140F|TSC2_ENST00000350773.4_Missense_Mutation_p.L177F|TSC2_ENST00000382538.6_Missense_Mutation_p.L128F|TSC2_ENST00000401874.2_Missense_Mutation_p.L177F|TSC2_ENST00000353929.4_Missense_Mutation_p.L177F NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 177 Required for interaction with TSC1. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CTCGGAATTCCTTCTGGTGCT 0.498000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 47 122 0 0 0.000781405 0 0 OR52E8 390079 broad.mit.edu 37 11 5878637 5878637 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:5878637G>A ENST00000537935.1 - 1 327 c.296C>T c.(295-297)tCt>tTt p.S99F TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCTCCAAAAGATATTTCTTT 0.463000 15 158 0 0 0.000566183 0 0 TENM3 55714 broad.mit.edu 37 4 183717907 183717907 + Nonsense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:183717907G>A ENST00000511685.1 + 27 7454 c.7331G>A c.(7330-7332)tGg>tAg p.W2444* TENM3_ENST00000406950.2_Nonsense_Mutation_p.W2444* teneurin transmembrane protein 3 AGTCAGCAGTGGGATGATATA 0.398000 5 23 0 0 0.000602214 0 0 MYBPC3 4607 broad.mit.edu 37 11 47356606 47356606 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:47356606C>T ENST00000545968.1 - 27 2946 c.2892G>A c.(2890-2892)gtG>gtA p.V964V MYBPC3_ENST00000256993.4_Silent_p.V963V|MYBPC3_ENST00000399249.2_Silent_p.V964V NM_000256.3 NP_000247.2 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 963 cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) GGATCTCCTGCACTGTCACCG 0.647000 7 11 0 0 0.000442599 0 0 ABCC10 89845 broad.mit.edu 37 6 43413675 43413675 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:43413675C>T ENST00000244533.3 + 13 3644 c.3285C>T c.(3283-3285)acC>acT p.T1095T ABCC10_ENST00000372530.4_Silent_p.T1123T NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 1123 ABC transmembrane type-1 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CAGGGGCCACCTACAGGTGTG 0.617000 23 14 0 0 0.000720815 0 0 CUBN 8029 broad.mit.edu 37 10 17087009 17087009 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:17087009C>T ENST00000377833.4 - 25 3734 c.3669G>A c.(3667-3669)ctG>ctA p.L1223L NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1223 CUB 7. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TACATACAGCCAGGTAATCTA 0.423000 8 62 0 0 0.000978159 0 0 CTAGE6 340307 broad.mit.edu 37 7 143453526 143453526 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:143453526C>T ENST00000470691.2 - 1 1263 c.1226G>A c.(1225-1227)cGa>cAa p.R409Q NM_178561.4 NP_848656.2 CTAGE family, member 6 Melanoma(164;0.0903) TTCCTCTATTCGGTAATTTTC 0.373000 13 105 0 0 0.00136819 0 0 NXT1 29107 broad.mit.edu 37 20 23334889 23334889 + Nonsense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr20:23334889C>T ENST00000254998.2 + 2 598 c.211C>T c.(211-213)Caa>Taa p.Q71* NM_013248.2 NP_037380.1 Q9UKK6 NXT1_HUMAN NTF2-like export factor 1 71 NTF2. cytoplasm|nuclear pore NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 6 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) CAGCGAGTTCCAAATCAGCGT 0.502000 13 43 0 0 0.00185496 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718918 142718918 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrX:142718918G>A ENST00000381779.4 - 2 232 c.7C>T c.(7-9)Ctg>Ttg p.L3L SLITRK4_ENST00000338017.4_Silent_p.L3L|SLITRK4_ENST00000356928.1_Silent_p.L3L NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 3 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) AACAGCCACAGAAACATCTTC 0.348000 6 13 0 0 0.00116845 0 0 CDH17 1015 broad.mit.edu 37 8 95178008 95178008 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:95178008C>T ENST00000027335.3 - 10 1387 c.1263G>A c.(1261-1263)acG>acA p.T421T CDH17_ENST00000450165.2_Silent_p.T421T|CDH17_ENST00000441892.2_Silent_p.T207T NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 421 Cadherin 4. integral to membrane calcium ion binding p.T421T(1) NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) ACACCTCTATCGTTAAGTTGT 0.408000 19 67 0 0 0.00121646 0 0 MYO3B 140469 broad.mit.edu 37 2 171323057 171323057 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:171323057G>A ENST00000334231.6 + 25 2877 c.2877G>A c.(2875-2877)caG>caA p.Q959Q MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Silent_p.Q950Q|MYO3B_ENST00000408978.4_Silent_p.Q950Q Q8WXR4 MYO3B_HUMAN myosin IIIB 950 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TGGTTGGACAGCCCCACTTTG 0.522000 25 77 0 0 0.00106085 0 0 SCN11A 11280 broad.mit.edu 37 3 38921572 38921572 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:38921572C>T ENST00000450244.1 - 19 3460 c.3262G>A c.(3262-3264)Gaa>Aaa p.E1088K SCN11A_ENST00000456224.3_Missense_Mutation_p.E1050K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E1088K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E1088K Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1088 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TTTAGTAATTCTTGGATTTTG 0.358000 8 33 0 0 0.000274275 0 0 NRCAM 4897 broad.mit.edu 37 7 107872849 107872849 + Silent SNP G G A rs150948949 TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:107872849G>A ENST00000379028.3 - 7 818 c.348C>T c.(346-348)acC>acT p.T116T NRCAM_ENST00000379022.4_Silent_p.T116T|NRCAM_ENST00000379024.4_Silent_p.T116T|NRCAM_ENST00000351718.4_Silent_p.T110T|NRCAM_ENST00000425651.2_Silent_p.T116T|NRCAM_ENST00000413765.2_Silent_p.T116T Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 116 Ig-like 1. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CTCCTTCATAGGTCTCAGCTT 0.468000 22 95 0 0 0.000375601 0 0 SNHG14 104472715 broad.mit.edu 37 15 25420017 25420017 + RNA SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr15:25420017G>A ENST00000549301.1 + 0 752 SNHG14_ENST00000441592.2_RNA ACTGAGCCTTGGTGAGCCCAT 0.527000 13 48 0 0 0.00136819 0 0 RTEL1 51750 broad.mit.edu 37 20 62292792 62292792 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr20:62292792C>T ENST00000318100.4 + 3 1071 c.244C>T c.(244-246)Ccg>Tcg p.P82S RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.P82S|RTEL1_ENST00000508582.2_Missense_Mutation_p.P82S|RTEL1_ENST00000488316.1_3'UTR|RTEL1_ENST00000370018.3_Missense_Mutation_p.P82S|RTEL1_ENST00000360203.5_Missense_Mutation_p.P82S Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 82 Helicase ATP-binding. DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) AGAGCTTTTCCCGGATCGGGC 0.647000 6 24 0 0 8.12818e-05 0 0 VPS33A 65082 broad.mit.edu 37 12 122745861 122745861 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:122745861G>A ENST00000267199.4 - 4 542 c.430C>T c.(430-432)Ctc>Ttc p.L144F RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.L144F|VPS33A_ENST00000542310.1_5'UTR|VPS33A_ENST00000451053.2_Missense_Mutation_p.L144F NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 144 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) AATGGAATGAGATCTAAGCTG 0.453000 12 59 0 0 0.00136819 0 0 USP36 57602 broad.mit.edu 37 17 76800017 76800017 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:76800017G>A ENST00000312010.6 - 16 2584 c.2260C>T c.(2260-2262)Ccc>Tcc p.P754S USP36_ENST00000542802.2_Missense_Mutation_p.P754S|USP36_ENST00000449938.2_Missense_Mutation_p.P454S NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 754 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) GGGCTGAAGGGGGGTTGCAGG 0.632000 30 48 0 0 0.000953801 0 0 OR52E2 119678 broad.mit.edu 37 11 5080058 5080058 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:5080058C>T ENST00000321522.2 - 1 799 c.800G>A c.(799-801)cGa>cAa p.R267Q NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) GGGCACATTTCGGCCAAAGCG 0.478000 12 86 0 0 0.00136819 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561165 11561165 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:11561165G>A ENST00000294484.6 + 2 254 c.116G>A c.(115-117)gGg>gAg p.G39E PTCHD2_ENST00000389575.3_Missense_Mutation_p.G39E NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 39 G -> R (in dbSNP:rs41274528). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCCCAACCTGGGGCAGGGGGA 0.647000 16 20 0 0 0.000958276 0 0 COL18A1 80781 broad.mit.edu 37 21 46902721 46902721 + Missense_Mutation SNP G G C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr21:46902721G>C ENST00000359759.4 + 14 2953 c.2932G>C c.(2932-2934)Gcc>Ccc p.A978P COL18A1_ENST00000400337.2_Missense_Mutation_p.A563P|COL18A1_ENST00000355480.5_Missense_Mutation_p.A743P P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 978 Triple-helical region 3 (COL3). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) TGAAGCAGGCGCCCCAGGACA 0.592000 5 40 0 0 8.12818e-05 0 0 DNAH2 146754 broad.mit.edu 37 17 7720620 7720620 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:7720620G>A ENST00000572933.1 + 65 11367 c.9907G>A c.(9907-9909)Gac>Aac p.D3303N DNAH2_ENST00000389173.2_Missense_Mutation_p.D3303N Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3303 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCTGGAGGAGGACCTGGGCTA 0.602000 11 56 0 0 0.00185496 0 0 S1PR3 1903 broad.mit.edu 37 9 91616967 91616967 + Silent SNP C C T rs149061614 TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:91616967C>T ENST00000375846.3 + 1 5547 c.852C>T c.(850-852)atC>atT p.I284I S1PR3_ENST00000358157.2_Silent_p.I284I Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 284 anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1) 34 AGTGGTTCATCGTGTTGGCTG 0.597000 6 29 0 0 0.000157383 0 0 OR4C11 219429 broad.mit.edu 37 11 55371162 55371162 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:55371162C>T ENST00000302231.4 - 1 712 c.688G>A c.(688-690)Ggg>Agg p.G230R NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 TTTTTCTTCCCTTTGGCACTG 0.408000 24 19 0 0 0.000878237 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935535 151935535 + Missense_Mutation SNP C C T rs34624093 byFrequency TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrX:151935535C>T ENST00000393902.3 - 3 1199 c.632G>A c.(631-633)aGa>aAa p.R211K MAGEA3_ENST00000370278.3_Missense_Mutation_p.R211K P43357 MAGA3_HUMAN melanoma antigen family A, 3 211 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) GTCGCCCTCTCTTGCGATTAT 0.562000 29 56 0 0 0.00111076 0 0 SERPINB11 89778 broad.mit.edu 37 18 61383338 61383338 + RNA SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr18:61383338G>A ENST00000544088.1 + 0 489 SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) ACAGTCTACAGAAGAAACGAG 0.338000 5 43 0 0 8.12818e-05 0 0 BAAT 570 broad.mit.edu 37 9 104130542 104130542 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:104130542G>A ENST00000259407.2 - 3 637 c.529C>T c.(529-531)Cgg>Tgg p.R177W BAAT_ENST00000395051.3_Missense_Mutation_p.R177W NM_001127610.1|NM_001701.3 NP_001121082.1|NP_001692.1 Q14032 BAAT_HUMAN bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) 177 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) AGGCTGGCCCGAAATTCAAGC 0.478000 9 49 0 0 0.000978159 0 0 MYH2 4620 broad.mit.edu 37 17 10430078 10430078 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:10430078G>A ENST00000245503.5 - 30 4409 c.4025C>T c.(4024-4026)tCc>tTc p.S1342F CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S1342F NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1342 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GTCGTGGCGGGAAGACTGCAG 0.522000 9 43 0 0 0.000673444 0 0 CIT 11113 broad.mit.edu 37 12 120196499 120196499 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:120196499G>A ENST00000392521.2 - 21 2482 c.2427C>T c.(2425-2427)atC>atT p.I809I CIT_ENST00000261833.7_Silent_p.I767I|CIT_ENST00000537607.1_5'UTR NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 767 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CCATAGCATTGATCATCTGAA 0.458000 20 101 0 0 0.000295444 0 0 ROBO2 6092 broad.mit.edu 37 3 77600111 77600111 + Nonsense_Mutation SNP T T A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:77600111T>A ENST00000461745.1 + 8 2102 c.1202T>A c.(1201-1203)tTa>tAa p.L401* ROBO2_ENST00000332191.8_Nonsense_Mutation_p.L401*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.L417* NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 401 Ig-like C2-type 4. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GGAAGCATTTTAGCAAAAGCT 0.418000 9 44 0 0 0.000673444 0 0 ITGAX 3687 broad.mit.edu 37 16 31373954 31373954 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr16:31373954C>T ENST00000268296.4 + 12 1360 c.1239C>T c.(1237-1239)ctC>ctT p.L413L ITGAX_ENST00000562522.1_Silent_p.L413L NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 413 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 AGCTGGCCCTCTGGAAAGGGG 0.672000 5 10 0 0 0.000602214 0 0 FGFR2 2263 broad.mit.edu 37 10 123263424 123263424 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:123263424G>A ENST00000358487.5 - 10 1591 c.1319C>T c.(1318-1320)tCc>tTc p.S440F FGFR2_ENST00000369056.1_Missense_Mutation_p.S441F|FGFR2_ENST00000357555.5_Missense_Mutation_p.S351F|FGFR2_ENST00000369061.4_Missense_Mutation_p.S328F|FGFR2_ENST00000369060.4_Missense_Mutation_p.S324F|FGFR2_ENST00000478859.1_Missense_Mutation_p.S212F|FGFR2_ENST00000346997.2_Missense_Mutation_p.S438F|FGFR2_ENST00000369059.1_Missense_Mutation_p.S326F|FGFR2_ENST00000457416.2_Missense_Mutation_p.S441F|FGFR2_ENST00000356226.4_Missense_Mutation_p.S323F|FGFR2_ENST00000360144.3_Missense_Mutation_p.S352F|FGFR2_ENST00000351936.6_Missense_Mutation_p.S438F NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 440 angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CGGGGTGTTGGAGTTCATGGA 0.537000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 7 29 0 0 8.12818e-05 0 0 PXDNL 137902 broad.mit.edu 37 8 52387667 52387667 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:52387667C>T ENST00000356297.4 - 7 659 c.559G>A c.(559-561)Gat>Aat p.D187N PXDNL_ENST00000543296.1_Missense_Mutation_p.D187N NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 187 LRRCT. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CACATCAGATCACAGTCACAA 0.512000 10 38 0 0 0.000219431 0 0 LPHN3 23284 broad.mit.edu 37 4 62363038 62363038 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:62363038C>T ENST00000512091.1 + 3 774 c.27C>T c.(25-27)ttC>ttT p.F9F LPHN3_ENST00000509896.1_Silent_p.F9F|LPHN3_ENST00000514996.1_Silent_p.F9F|LPHN3_ENST00000504896.1_Silent_p.F9F|LPHN3_ENST00000511324.1_Silent_p.F9F|LPHN3_ENST00000545650.1_Silent_p.F9F|LPHN3_ENST00000506720.1_Silent_p.F9F|LPHN3_ENST00000508946.1_Silent_p.F9F|LPHN3_ENST00000514157.1_Silent_p.F9F|LPHN3_ENST00000506746.1_Silent_p.F9F|LPHN3_ENST00000514591.1_Silent_p.F9F|LPHN3_ENST00000506700.1_Silent_p.F9F|LPHN3_ENST00000507625.1_Silent_p.F9F|LPHN3_ENST00000508693.1_Silent_p.F9F|LPHN3_ENST00000507164.1_Silent_p.F9F Q9HAR2 LPHN3_HUMAN latrophilin 3 9 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TACTAATTTTCATGATGCTCT 0.363000 8 36 0 0 0.000442599 0 0 GPC5 2262 broad.mit.edu 37 13 92346025 92346025 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr13:92346025G>A ENST00000377067.3 + 3 1282 c.910G>A c.(910-912)Gat>Aat p.D304N NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 304 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) AGAACTCTCGGATGCAATGCA 0.483000 16 92 0 0 0.00074312 0 0 MUC16 94025 broad.mit.edu 37 19 9049612 9049612 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:9049612G>A ENST00000397910.4 - 5 32222 c.32019C>T c.(32017-32019)tcC>tcT p.S10673S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10675 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTCATGTGGGGACTTAGTCA 0.448000 14 58 0 0 0.000219431 0 0 ASTN1 460 broad.mit.edu 37 1 176983946 176983946 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:176983946C>T ENST00000367654.2 - 8 1541 c.1528G>A c.(1528-1530)Gaa>Aaa p.E510K ASTN1_ENST00000367657.3_Missense_Mutation_p.E502K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E502K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.E502K O14525 ASTN1_HUMAN astrotactin 1 510 cell migration|neuron cell-cell adhesion integral to membrane p.E502K(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GTCCCCCATTCGTTCCGAATG 0.493000 54 226 0 0 0.000781405 0 0 SH3BGR 6450 broad.mit.edu 37 21 40880956 40880956 + Splice_Site SNP T T G TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr21:40880956T>G ENST00000333634.4 + 5 702 c.e5+2 SH3BGR_ENST00000380631.1_Splice_Site|SH3BGR_ENST00000380637.3_Splice_Site|SH3BGR_ENST00000380634.1_Splice_Site|SH3BGR_ENST00000458295.1_Splice_Site NM_007341.2 NP_031367.1 P55822 SH3BG_HUMAN SH3 domain binding glutamic acid-rich protein protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) ACAGAAGAGGTACGGTCGACC 0.353000 7 56 0 0 0.000673444 0 0 DCLK1 9201 broad.mit.edu 37 13 36700265 36700265 + Missense_Mutation SNP C C A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr13:36700265C>A ENST00000255448.4 - 2 221 c.10G>T c.(10-12)Ggc>Tgc p.G4C DCLK1_ENST00000360631.3_Missense_Mutation_p.G4C|DCLK1_ENST00000379892.4_Missense_Mutation_p.G4C NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 4 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) ATGTCTCTGCCGAAGGACATG 0.507000 18 57 3.28513e-13 2.08423e-12 0.000586117 1 0 NLRP7 199713 broad.mit.edu 37 19 55445094 55445094 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:55445094G>A ENST00000588756.1 - 10 2971 c.2485C>T c.(2485-2487)Cgt>Tgt p.R829C NLRP7_ENST00000592784.1_Missense_Mutation_p.R829C|NLRP7_ENST00000590030.1_Missense_Mutation_p.R829C|NLRP7_ENST00000340844.2_Missense_Mutation_p.R829C|NLRP7_ENST00000328092.5_Missense_Mutation_p.R801C|NLRP7_ENST00000448121.2_Missense_Mutation_p.R801C|NLRP7_ENST00000446217.1_Missense_Mutation_p.R857C Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 829 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TCTGTAAGACGACAGTTTTCC 0.478000 13 53 0 0 0.00185496 0 0 AHNAK 79026 broad.mit.edu 37 11 62294950 62294950 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:62294950G>A ENST00000378024.4 - 5 7213 c.6939C>T c.(6937-6939)tcC>tcT p.S2313S AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2313 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CATCAGGCATGGAGATCTTGG 0.468000 31 168 0 0 0.000491102 0 0 LYG2 254773 broad.mit.edu 37 2 99861920 99861920 + Splice_Site SNP C C T rs142190861 by1000genomes TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:99861920C>T ENST00000409679.1 - 4 330 c.184_splice c.e4-1 p.G62_splice LYG2_ENST00000409238.1_Splice_Site_p.G62_splice|LYG2_ENST00000333017.2_Splice_Site_p.G62_splice Q86SG7 LYG2_HUMAN lysozyme G-like 2 62 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1) 12 AACCACGGATCCCTACGTCAA 0.478000 7 40 0 0 0.000157383 0 0 SDK2 54549 broad.mit.edu 37 17 71364628 71364628 + Silent SNP G G A rs146100082 byFrequency TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:71364628G>A ENST00000392650.3 - 37 5085 c.5085C>T c.(5083-5085)gcC>gcT p.A1695A SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.A1676A NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1695 Fibronectin type-III 11. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TGACCATGTAGGCCGTGTAGC 0.632000 8 25 0 0 0.000442599 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537225 5537225 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:5537225G>A ENST00000380184.1 - 1 710 c.447C>T c.(445-447)gcC>gcT p.A149A HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 149 endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) CCACAAAGTGGGCCAGTTCCA 0.527000 14 32 0 0 0.000308642 0 0 CNTROB 116840 broad.mit.edu 37 17 7843499 7843499 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:7843499G>A ENST00000380262.3 + 9 2175 c.1250G>A c.(1249-1251)gGa>gAa p.G417E CNTROB_ENST00000565740.1_Missense_Mutation_p.G417E|CNTROB_ENST00000563694.1_Missense_Mutation_p.G417E|CNTROB_ENST00000380255.3_Missense_Mutation_p.G417E NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 417 Required for centrosome localization. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) CGGCTGGAAGGAGAGCTGGAT 0.562000 14 88 0 0 0.000308642 0 0 EPHA6 285220 broad.mit.edu 37 3 97439109 97439109 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:97439109G>A ENST00000389672.5 + 15 2827 c.2789G>A c.(2788-2790)gGa>gAa p.G930E NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 835 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TTCCAGGGTGGAAAAATCCCC 0.393000 14 70 0 0 0.000566183 0 0 ANLN 54443 broad.mit.edu 37 7 36450702 36450702 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:36450702G>A ENST00000265748.2 + 7 1543 c.1322G>A c.(1321-1323)cGa>cAa p.R441Q ANLN_ENST00000396068.2_Missense_Mutation_p.R441Q|ANLN_ENST00000495714.1_3'UTR NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 441 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 CTTCGTGGCCGATTTGACAAG 0.378000 15 48 0 0 0.000566183 0 0 FMO3 2328 broad.mit.edu 37 1 171073096 171073096 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:171073096G>A ENST00000367755.4 + 3 414 c.303G>A c.(301-303)ctG>ctA p.L101L FMO3_ENST00000392085.2_Silent_p.L101L|FMO3_ENST00000538429.1_Intron|FMO3_ENST00000542847.1_Silent_p.L81L NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 101 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGAACCTCCTGAAGTACATAC 0.378000 5 39 0 0 0.000602214 0 0 ABCB11 8647 broad.mit.edu 37 2 169869860 169869860 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:169869860C>T ENST00000263817.6 - 5 435 c.311G>A c.(310-312)gGa>gAa p.G104E NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 104 ABC transmembrane type-1 1. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) ACATGCTTTTCCTGGAATCTG 0.413000 72 198 0 0 0.000781405 0 0 USP54 159195 broad.mit.edu 37 10 75289504 75289504 + Missense_Mutation SNP C C A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:75289504C>A ENST00000339859.4 - 14 2094 c.1994G>T c.(1993-1995)aGt>aTt p.S665I USP54_ENST00000428547.1_Missense_Mutation_p.S515I|USP54_ENST00000408019.1_Missense_Mutation_p.S665I|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.S665I|USP54_ENST00000497106.1_5'UTR Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 665 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) GTTCCTCTCACTGCTTTCATA 0.557000 OREG0020266 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 124 2.39556e-15 1.52205e-14 0.000375601 1 0 PRKCG 5582 broad.mit.edu 37 19 54387439 54387439 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:54387439G>A ENST00000263431.3 + 3 509 c.227G>A c.(226-228)cGa>cAa p.R76Q PRKCG_ENST00000540413.1_Missense_Mutation_p.R76Q|PRKCG_ENST00000536044.1_Missense_Mutation_p.R76Q|PRKCG_ENST00000542049.1_De_novo_Start_InFrame NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 76 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GTTCATCGACGATGCCACGAA 0.567000 14 64 0 0 0.000566183 0 0 BRD4 23476 broad.mit.edu 37 19 15355540 15355540 + Missense_Mutation SNP G G C rs149185763 byFrequency TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:15355540G>C ENST00000263377.2 - 12 2413 c.2192C>G c.(2191-2193)cCc>cGc p.P731R NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 731 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) CTCCCTCCCGGGGTGCCCCTT 0.582000 T C15orf55 lethal midline carcinoma of young people 4 96 0 0 0.000602214 0 0 PQLC2 54896 broad.mit.edu 37 1 19652757 19652757 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:19652757C>T ENST00000375153.3 + 5 1041 c.401C>T c.(400-402)tCc>tTc p.S134F PQLC2_ENST00000375155.3_Missense_Mutation_p.S134F|PQLC2_ENST00000400548.2_Missense_Mutation_p.S69F NM_001040125.1 NP_001035214.1 Q6ZP29 PQLC2_HUMAN PQ loop repeat containing 2 134 integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCCATCAACTCCGTGCTGTTG 0.662000 9 23 0 0 0.000308642 0 0 KRTAP3-3 85293 broad.mit.edu 37 17 39150346 39150346 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:39150346C>T ENST00000391586.1 - 1 39 c.4G>A c.(4-6)Gat>Aat p.D2N NM_033185.2 NP_149441.1 Q9BYR6 KRA33_HUMAN keratin associated protein 3-3 2 keratin filament structural molecule activity lung(2)|prostate(2) 4 Breast(137;0.00043) GCACAGCAATCCATGGCTATT 0.527000 9 92 0 0 0.000978159 0 0 LIFR 3977 broad.mit.edu 37 5 38496621 38496621 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:38496621G>A ENST00000263409.4 - 13 1910 c.1748C>T c.(1747-1749)tCc>tTc p.S583F LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.S583F NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 583 Fibronectin type-III 4. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TTCAGAAAGGGACTGTGTTTC 0.383000 T PLAG1 salivary adenoma 27 63 0 0 0.00106085 0 0 PDCL2 132954 broad.mit.edu 37 4 56448350 56448350 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:56448350G>A ENST00000295645.4 - 2 163 c.61C>T c.(61-63)Cct>Tct p.P21S NM_152401.2 NP_689614.2 Q8N4E4 PDCL2_HUMAN phosducin-like 2 21 endometrium(1)|kidney(1)|lung(4)|ovary(1) 7 Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669) TCTTTAGGAGGAAGAATGCCG 0.358000 12 64 0 0 0.000308642 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6528321 6528321 + Missense_Mutation SNP G G A rs150666859 TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:6528321G>A ENST00000377748.1 - 21 3303 c.2806C>T c.(2806-2808)Cgc>Tgc p.R936C PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R915C|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R928C|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R859C|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R896C|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R938C|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R859C NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 915 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) GTGCGGCGGCGGAGACGGGGC 0.677000 15 20 0 0 0.000422831 0 0 REN 5972 broad.mit.edu 37 1 204125924 204125924 + Splice_Site SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:204125924C>T ENST00000367195.2 - 6 733 c.689_splice c.e6-1 p.R230_splice REN_ENST00000272190.8_Splice_Site_p.E233_splice P00797 RENI_HUMAN renin 230 R -> K (in RTD). angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1) 19 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) ATTGGGAATTCCTAAAGGAAA 0.522000 7 49 0 0 0.000157383 0 0 DNAH1 25981 broad.mit.edu 37 3 52380497 52380497 + Missense_Mutation SNP T T C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:52380497T>C ENST00000420323.2 + 11 1927 c.1666T>C c.(1666-1668)Ttc>Ctc p.F556L NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 556 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGTGCAGATGTTCCTCAAGGA 0.587000 4 10 0 0 0.000602214 0 0 ZNF812 729648 broad.mit.edu 37 19 9801638 9801638 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:9801638C>T ENST00000457674.2 - 5 1059 c.541G>A c.(541-543)Gat>Aat p.D181N ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATGTGATTATCAAGGCTTGCA 0.393000 5 16 0 0 0.00116845 0 0 ANK3 288 broad.mit.edu 37 10 61946488 61946488 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:61946488C>T ENST00000280772.1 - 17 2261 c.2070G>A c.(2068-2070)gtG>gtA p.V690V ANK3_ENST00000503366.1_Silent_p.V673V|ANK3_ENST00000373827.2_Silent_p.V684V NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 690 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGCTCAGGTTCACATTCGCAT 0.507000 9 25 0 0 0.000274275 0 0 LPA 4018 broad.mit.edu 37 6 161007508 161007508 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:161007508G>A ENST00000447678.1 - 26 4222 c.4102C>T c.(4102-4104)Cca>Tca p.P1368S LPA_ENST00000316300.5_Missense_Mutation_p.P1368S NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3876 Kringle 12. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TCTGTGCTTGGAACTGGGACC 0.478000 6 49 0 0 8.12818e-05 0 0 COPG1 22820 broad.mit.edu 37 3 128971792 128971792 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:128971792C>T ENST00000314797.6 + 5 421 c.317C>T c.(316-318)aCc>aTc p.T106I NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 106 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ATCATTGTCACCAGCAGGCAA 0.493000 7 46 0 0 0.000274275 0 0 STK31 56164 broad.mit.edu 37 7 23827599 23827599 + Splice_Site SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:23827599G>A ENST00000354639.3 + 21 2883 c.2418_splice c.e21-1 p.E807_splice STK31_ENST00000428484.1_Splice_Site_p.E807_splice|STK31_ENST00000355870.3_Splice_Site_p.E830_splice|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Splice_Site_p.E830_splice NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 830 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TTATCTATAGGAAACTTTAAA 0.348000 12 78 0 0 0.000219431 0 0 L3MBTL4 91133 broad.mit.edu 37 18 5956313 5956313 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr18:5956313G>A ENST00000284898.6 - 20 1978 c.1778C>T c.(1777-1779)cCa>cTa p.P593L L3MBTL4_ENST00000400105.2_Missense_Mutation_p.P593L|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.P397L|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.P584L|RP11-793A3.1_ENST00000577704.1_RNA NM_173464.3 NP_775735.2 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 593 SAM. chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) CTTCAGTGCTGGGCCCAGTTT 0.458000 40 132 0 0 0.000509022 0 0 KIAA1217 56243 broad.mit.edu 37 10 24762678 24762678 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:24762678G>A ENST00000376451.2 + 2 782 c.522G>A c.(520-522)agG>agA p.R174R KIAA1217_ENST00000430453.2_Silent_p.R377R|KIAA1217_ENST00000376454.3_Silent_p.R456R|KIAA1217_ENST00000396445.1_Silent_p.R174R|KIAA1217_ENST00000307544.6_Silent_p.R174R|KIAA1217_ENST00000458595.1_Silent_p.R456R|KIAA1217_ENST00000376462.1_Silent_p.R376R|KIAA1217_ENST00000396446.1_Silent_p.R174R|KIAA1217_ENST00000376452.3_Silent_p.R456R Q5T5P2 SKT_HUMAN KIAA1217 456 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AGAAATCAAGGAAATATCCGG 0.502000 12 47 0 0 0.00185496 0 0 OR13C4 138804 broad.mit.edu 37 9 107289416 107289416 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:107289416G>A ENST00000277216.3 - 1 74 c.75C>T c.(73-75)atC>atT p.I25I NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 CAAAGAAAATGATCTCAAGTT 0.418000 7 29 0 0 8.12818e-05 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149200044 149200044 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:149200044G>A ENST00000309241.5 + 2 159 c.127G>A c.(127-129)Gac>Aac p.D43N PPARGC1B_ENST00000394320.3_Missense_Mutation_p.D43N|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.D18N|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.D43N NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 43 Abolishes DNA transcriptional activity when missing. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TCCAGAACTTGACCTCTCCCA 0.582000 29 48 0 0 0.00178596 0 0 CPA1 1357 broad.mit.edu 37 7 130027837 130027837 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:130027837G>A ENST00000011292.3 + 10 1395 c.1245G>A c.(1243-1245)ctG>ctA p.L415L CPA1_ENST00000484324.1_Silent_p.L327L NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 415 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) AGCACACCCTGAATCACCCCT 0.567000 18 99 0 0 0.000958276 0 0 SRSF7 6432 broad.mit.edu 37 2 38977248 38977248 + Silent SNP A A G TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:38977248A>G ENST00000313117.6 - 2 354 c.117T>C c.(115-117)acT>acC p.T39T SRSF7_ENST00000409276.1_Silent_p.T39T|SRSF7_ENST00000446327.2_Silent_p.T39T NM_001031684.2|NM_001195446.1 NP_001026854.1|NP_001182375.1 Q16629 SRSF7_HUMAN serine/arginine-rich splicing factor 7 39 RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CAATCCATACAGTTCTTAAAG 0.428000 25 59 0 0 0.000586117 0 0 KRT6A 3853 broad.mit.edu 37 12 52885395 52885395 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:52885395C>T ENST00000330722.6 - 2 734 c.666G>A c.(664-666)agG>agA p.R222R NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 222 Coil 1B.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) CCAGCTGCCTCCTGAGGTTGT 0.567000 7 47 0 0 0.000157383 0 0 RIMS2 9699 broad.mit.edu 37 8 104709350 104709350 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:104709350G>A ENST00000406091.3 + 2 213 c.213G>A c.(211-213)caG>caA p.Q71Q NM_001100117.2 NP_001093587.1 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 102 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ATAAAGAGCAGGTAAAGAAGA 0.388000 HNSCC(12;0.0054) 9 78 0 0 0.000442599 0 0 ETAA1 54465 broad.mit.edu 37 2 67631562 67631562 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:67631562C>T ENST00000272342.5 + 5 1878 c.1748C>T c.(1747-1749)cCc>cTc p.P583L ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 583 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 TGGAATGATCCCTCATTTGCC 0.363000 18 106 0 0 0.00121646 0 0 B3GALT6 126792 broad.mit.edu 37 1 1168027 1168027 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:1168027C>T ENST00000379198.2 + 1 399 c.369C>T c.(367-369)ccC>ccT p.P123P NM_080605.3 NP_542172.2 Q96L58 B3GT6_HUMAN UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 123 glycosaminoglycan biosynthetic process|protein glycosylation Golgi cisterna membrane|Golgi medial cisterna|integral to membrane galactosylxylosylprotein 3-beta-galactosyltransferase activity lung(3) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TGCTGCTGCCCGCGCTGCGCG 0.736000 8 13 0 0 0.000274275 0 0 IKBKE 9641 broad.mit.edu 37 1 206666707 206666707 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:206666707C>T ENST00000367120.3 + 20 2414 c.2041C>T c.(2041-2043)Ctc>Ttc p.L681F IKBKE_ENST00000462698.1_3'UTR|C1orf147_ENST00000367119.1_Intron|IKBKE_ENST00000537984.1_Missense_Mutation_p.L596F NM_001193322.1|NM_014002.3 NP_001180251.1|NP_054721.1 Q14164 IKKE_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 681 DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) GGACCTGCTTCTCCAGTAAGT 0.582000 7 35 0 0 0.000157383 0 0 ANO2 57101 broad.mit.edu 37 12 5915235 5915235 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:5915235C>T ENST00000356134.5 - 10 1035 c.964G>A c.(964-966)Gat>Aat p.D322N ANO2_ENST00000546188.1_Missense_Mutation_p.D322N|ANO2_ENST00000327087.8_Missense_Mutation_p.D321N NM_001278596.1|NM_001278597.1 NP_001265525.1|NP_001265526.1 Q9NQ90 ANO2_HUMAN anoctamin 2 326 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TCATTCATATCGTCCTCTGGA 0.478000 11 48 0 0 0.00185496 0 0 STEAP4 79689 broad.mit.edu 37 7 87913481 87913481 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:87913481C>T ENST00000380079.4 - 2 205 c.104G>A c.(103-105)gGa>gAa p.G35E STEAP4_ENST00000414498.1_Missense_Mutation_p.G35E|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.G35E|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 35 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) CATTTTCAATCCCAGTGATCT 0.413000 13 74 0 0 0.000219431 0 0 ABCA10 10349 broad.mit.edu 37 17 67190038 67190038 + Nonsense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:67190038G>A ENST00000269081.4 - 14 2347 c.1438C>T c.(1438-1440)Caa>Taa p.Q480* ABCA10_ENST00000416101.2_Intron NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 480 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) AAGTCAAATTGAAAATTGAAC 0.343000 19 162 0 0 0.000958276 0 0 KIAA0368 23392 broad.mit.edu 37 9 114178561 114178561 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:114178561G>A ENST00000259335.4 - 19 2288 c.2289C>T c.(2287-2289)gcC>gcT p.A763A KIAA0368_ENST00000338205.5_Silent_p.A585A NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 CCTCTCCAAAGGCTGCTGGGT 0.393000 12 68 0 0 0.00185496 0 0 COPG1 22820 broad.mit.edu 37 3 128976654 128976654 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:128976654C>T ENST00000314797.6 + 10 926 c.822C>T c.(820-822)atC>atT p.I274I NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 274 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity CCTCGGCCATCGTCAATCTGC 0.557000 21 110 0 0 0.00188189 0 0 LAMB3 3914 broad.mit.edu 37 1 209789916 209789916 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:209789916C>T ENST00000391911.1 - 21 3671 c.3282G>A c.(3280-3282)caG>caA p.Q1094Q LAMB3_ENST00000367030.3_Silent_p.Q1094Q|LAMB3_ENST00000356082.4_Silent_p.Q1094Q NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 1094 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GCATGGAACTCTGACCCAACC 0.488000 13 77 0 0 0.00136819 0 0 FAM81B 153643 broad.mit.edu 37 5 94784108 94784108 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:94784108G>A ENST00000283357.5 + 9 1211 c.1165G>A c.(1165-1167)Gaa>Aaa p.E389K NM_152548.2 NP_689761.2 Q96LP2 FA81B_HUMAN family with sequence similarity 81, member B 389 central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) CAAAAAGATGGAACAAATGGA 0.338000 13 31 0 0 0.000308642 0 0 MYPN 84665 broad.mit.edu 37 10 69948796 69948796 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:69948796C>T ENST00000358913.5 + 13 3326 c.2838C>T c.(2836-2838)atC>atT p.I946I MYPN_ENST00000354393.2_Silent_p.I671I|MYPN_ENST00000540630.1_Silent_p.I946I NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 946 Ig-like 3.|Interaction with ACTN. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 TTGCTCCCATCTTTGACAAGA 0.443000 11 49 0 0 0.000978159 0 0 POLR2E 5434 broad.mit.edu 37 19 1090091 1090091 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:1090091G>A ENST00000215587.7 - 5 766 c.483C>T c.(481-483)gcC>gcT p.A161A POLR2E_ENST00000586746.1_Silent_p.A161A|POLR2E_ENST00000585838.1_5'UTR P19388 RPAB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide E, 25kDa 161 interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2) 11 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GATACTATCGGGCCAGCAGCT 0.667000 8 37 0 0 0.000274275 0 0 ADORA2A 135 broad.mit.edu 37 22 24837156 24837156 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr22:24837156C>T ENST00000337539.7 + 3 1397 c.938C>T c.(937-939)cCt>cTt p.P313L KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000427813.2_RNA NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1 NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1 P29274 AA2AR_HUMAN adenosine A2a receptor 313 apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1) 21 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) CAGCAAGAACCTTTCAAGGCA 0.602000 10 24 0 0 0.000673444 0 0 CSMD2 114784 broad.mit.edu 37 1 34006189 34006189 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:34006189G>A ENST00000373381.4 - 60 9743 c.9567C>T c.(9565-9567)tcC>tcT p.S3189S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3165 Sushi 26. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCGCGGGCAGGGAGAGCTGGT 0.587000 21 34 0 0 0.00188189 0 0 STAT3 6774 broad.mit.edu 37 17 40478182 40478182 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:40478182G>A ENST00000264657.5 - 15 1629 c.1317C>T c.(1315-1317)atC>atT p.I439I STAT3_ENST00000588969.1_Silent_p.I439I|STAT3_ENST00000389272.3_Silent_p.I341I|STAT3_ENST00000404395.3_Silent_p.I439I|STAT3_ENST00000585517.1_Silent_p.I439I NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 439 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TCTCAAAGGTGATCAGGTGCA 0.527000 Hyperimmunoglobulin E Recurrent Infection Syndrome 10 59 0 0 0.000978159 0 0 RBBP6 5930 broad.mit.edu 37 16 24567190 24567190 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr16:24567190C>T ENST00000319715.4 + 6 918 c.486C>T c.(484-486)ttC>ttT p.F162F RBBP6_ENST00000348022.2_Silent_p.F162F|RBBP6_ENST00000381039.3_Silent_p.F162F NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 162 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.F162F(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) ACACGTGTTTCCGTTGTGGTA 0.358000 16 42 0 0 0.00121646 0 0 MAML2 84441 broad.mit.edu 37 11 95712321 95712321 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:95712321G>A ENST00000524717.1 - 5 4546 c.3262C>T c.(3262-3264)Cct>Tct p.P1088S NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 1088 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) TTGGGTGAAGGAAAATTGCTG 0.488000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 11 63 0 0 0.000978159 0 0 SRP68 6730 broad.mit.edu 37 17 74068551 74068551 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:74068551G>A ENST00000307877.2 - 1 183 c.22C>T c.(22-24)Cca>Tca p.P8S SRP68_ENST00000539137.1_Missense_Mutation_p.P8S|SRP68_ENST00000355113.5_5'UTR NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 8 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 ccgccgccTGGGACCTGCTTC 0.711000 4 33 0 0 8.12818e-05 0 0 SULF1 23213 broad.mit.edu 37 8 70553060 70553060 + Missense_Mutation SNP A A G TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:70553060A>G ENST00000260128.4 + 22 3286 c.2569A>G c.(2569-2571)Agc>Ggc p.S857G SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.S857G|SULF1_ENST00000419716.3_Missense_Mutation_p.S857G|SULF1_ENST00000402687.4_Missense_Mutation_p.S857G NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 857 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) AGATGGAGGAAGCTATGACCT 0.323000 13 90 0 0 0.00185496 0 0 TCF20 6942 broad.mit.edu 37 22 42608389 42608389 + Missense_Mutation SNP G G T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr22:42608389G>T ENST00000359486.3 - 1 3059 c.2923C>A c.(2923-2925)Ctt>Att p.L975I TCF20_ENST00000335626.4_Missense_Mutation_p.L975I NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 975 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TAGTCTGAAAGGGAATCATGG 0.582000 6 92 0.000157383 0.000987079 0.000157383 1 0 ZNF292 23036 broad.mit.edu 37 6 87970414 87970414 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:87970414C>T ENST00000369577.3 + 8 7110 c.7067C>T c.(7066-7068)cCt>cTt p.P2356L ZNF292_ENST00000339907.4_Missense_Mutation_p.P2351L NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 2356 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GAAAATAAGCCTTATTCTCTG 0.353000 6 45 0 0 8.12818e-05 0 0 SP140L 93349 broad.mit.edu 37 2 231222635 231222635 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:231222635C>T ENST00000243810.6 + 3 223 c.223C>T c.(223-225)Ctt>Ttt p.L75F SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000415673.2_Missense_Mutation_p.L75F|SP140L_ENST00000458341.1_5'UTR|SP140L_ENST00000396563.4_Missense_Mutation_p.L75F|SP140L_ENST00000444636.1_Missense_Mutation_p.L75F Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 75 HSR. nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 ATTTCCATTCCTTGAGGGCCT 0.373000 35 236 0 0 0.00128727 0 0 IGHV1-46 28465 broad.mit.edu 37 14 106967396 106967396 + RNA SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr14:106967396G>A ENST00000390622.2 - 0 350 CTCTAAACTGGAAAAAATCCC 0.562000 11 44 0 0 0.000978159 0 0 VNN2 8875 broad.mit.edu 37 6 133077074 133077074 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:133077074G>A ENST00000326499.6 - 3 569 c.445C>T c.(445-447)Cgt>Tgt p.R149C VNN2_ENST00000525289.1_Missense_Mutation_p.R149C|VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525270.1_Missense_Mutation_p.R96C NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 149 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) GTGGAGTCACGGGAATTACAT 0.438000 10 32 0 0 0.000673444 0 0 ETAA1 54465 broad.mit.edu 37 2 67631561 67631561 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:67631561C>T ENST00000272342.5 + 5 1877 c.1747C>T c.(1747-1749)Ccc>Tcc p.P583S ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 583 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 TTGGAATGATCCCTCATTTGC 0.363000 17 107 0 0 0.000958276 0 0 HHIP 64399 broad.mit.edu 37 4 145628247 145628247 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:145628247C>T ENST00000296575.3 + 6 1647 c.992C>T c.(991-993)cCa>cTa p.P331L NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 331 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) AGAAAAAATCCACACCAAGTT 0.383000 6 39 0 0 0.000274275 0 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316570 39316570 + Missense_Mutation SNP T T C rs111563615 TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:39316570T>C ENST00000390661.3 - 1 413 c.374A>G c.(373-375)tAc>tGc p.Y125C NM_032524.1 NP_115913.1 Q9BYR3 KRA44_HUMAN keratin associated protein 4-4 125 26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR]. keratin filament kidney(1)|large_intestine(1)|lung(5) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GGACACACAGTAGCTGGGGCA 0.667000 5 49 0 0 0.000602214 0 0 NCAPG 64151 broad.mit.edu 37 4 17814690 17814690 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:17814690C>T ENST00000251496.2 + 3 642 c.466C>T c.(466-468)Cca>Tca p.P156S NM_022346.3 NP_071741.2 Q9BPX3 CND3_HUMAN non-SMC condensin I complex, subunit G 156 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 27 STAD - Stomach adenocarcinoma(129;0.18) AGATAAGATTCCAAATGTGAG 0.378000 15 54 0 0 0.000308642 0 0 LAIR1 3903 broad.mit.edu 37 19 54868216 54868216 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:54868216G>A ENST00000391743.3 - 5 693 c.413C>T c.(412-414)tCc>tTc p.S138F LAIR1_ENST00000434277.2_Missense_Mutation_p.S155F|LAIR1_ENST00000391742.2_Missense_Mutation_p.S156F|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000474878.1_Missense_Mutation_p.S138F|LAIR1_ENST00000313038.6_Missense_Mutation_p.S149F|LAIR1_ENST00000348231.4_Missense_Mutation_p.S139F Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like receptor 1 156 integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) CAGGCCTTGGGAAGCAGGTGC 0.498000 20 97 0 0 0.00121646 0 0 EYA2 2139 broad.mit.edu 37 20 45630110 45630110 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr20:45630110C>T ENST00000327619.5 + 3 527 c.153C>T c.(151-153)tcC>tcT p.S51S EYA2_ENST00000317304.6_Silent_p.S51S|EYA2_ENST00000357410.3_Silent_p.S51S NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 51 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) AGCTCTTCTCCAGGTGAGTGC 0.507000 8 58 0 0 0.000157383 0 0 KCNH6 81033 broad.mit.edu 37 17 61607752 61607752 + Missense_Mutation SNP A A T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:61607752A>T ENST00000583023.1 + 4 535 c.524A>T c.(523-525)tAc>tTc p.Y175F KCNH6_ENST00000581784.1_Missense_Mutation_p.Y175F|KCNH6_ENST00000580652.1_Missense_Mutation_p.Y175F|KCNH6_ENST00000456941.2_Missense_Mutation_p.Y175F|KCNH6_ENST00000314672.5_Missense_Mutation_p.Y175F NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 175 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) AGGGGCAAGTACAGGACCATC 0.622000 12 78 0 0 0.00136819 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725108 140725108 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:140725108C>T ENST00000253812.6 + 1 1508 c.1508C>T c.(1507-1509)tCc>tTc p.S503F PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCCTGTCCTCCTTCGTCTCT 0.542000 13 54 0 0 0.000219431 0 0 CSMD1 64478 broad.mit.edu 37 8 2820894 2820894 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:2820894G>A ENST00000520002.1 - 61 9862 c.9307C>T c.(9307-9309)Ccg>Tcg p.P3103S CSMD1_ENST00000542608.1_Missense_Mutation_p.P2925S|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2926S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2926S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P3102S|CSMD1_ENST00000602557.1_Missense_Mutation_p.P3103S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3103 Sushi 25. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTCTGCACCGGCGGCGGCTGA 0.537000 54 150 0 0 0.000781405 0 0 RNASET2 8635 broad.mit.edu 37 6 167343198 167343198 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:167343198C>T ENST00000366855.6 - 10 1210 c.535G>A c.(535-537)Ggg>Agg p.G179R RNASET2_ENST00000508775.1_Missense_Mutation_p.G217R|RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000476238.2_Missense_Mutation_p.G217R O00584 RNT2_HUMAN ribonuclease T2 217 RNA catabolic process extracellular region ribonuclease T2 activity|RNA binding large_intestine(4)|lung(4) 8 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665) GGCTGCTCCCCCGGCTCGGTG 0.552000 27 115 0 0 0.001512 0 0 OR2A5 393046 broad.mit.edu 37 7 143747859 143747859 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:143747859G>A ENST00000408906.2 + 1 399 c.365G>A c.(364-366)cGg>cAg p.R122Q NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122L(1) cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) TCCTACGATCGGTACATGGCT 0.468000 23 90 0 0 0.000720815 0 0 HERC2 8924 broad.mit.edu 37 15 28474839 28474839 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr15:28474839C>T ENST00000261609.7 - 32 5072 c.4964G>A c.(4963-4965)aGa>aAa p.R1655K NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1655 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TAGGCACTTTCTCATTTTTTC 0.393000 45 245 0 0 0.000680045 0 0 ASTN1 460 broad.mit.edu 37 1 176984010 176984010 + Splice_Site SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:176984010C>T ENST00000367654.2 - 8 1477 c.1462_splice c.e8-1 p.G488_splice ASTN1_ENST00000367657.3_Splice_Site_p.G480_splice|ASTN1_ENST00000361833.2_Splice_Site_p.G480_splice|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Splice_Site_p.G480_splice O14525 ASTN1_HUMAN astrotactin 1 488 EGF-like 1. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AGAGGCATTCCCCTTAGAAGC 0.428000 24 140 0 0 0.00047179 0 0 OR51V1 283111 broad.mit.edu 37 11 5221720 5221720 + Missense_Mutation SNP A A C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:5221720A>C ENST00000321255.1 - 1 210 c.211T>G c.(211-213)Ttc>Gtc p.F71V NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGGACAGGAAGTAAAACATA 0.532000 12 65 0 0 0.00185496 0 0 TECTB 6975 broad.mit.edu 37 10 114044409 114044409 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:114044409G>A ENST00000369422.3 + 2 193 c.193G>A c.(193-195)Gaa>Aaa p.E65K NM_058222.1 NP_478129.1 Q96PL2 TECTB_HUMAN tectorin beta 65 ZP. anchored to membrane|plasma membrane|proteinaceous extracellular matrix kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) TGGGGTCCACGAAGGAGGTTA 0.493000 5 17 0 0 0.000602214 0 0 NEB 4703 broad.mit.edu 37 2 152404848 152404848 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:152404848G>A ENST00000427231.2 - 131 20333 c.20131C>T c.(20131-20133)Cgg>Tgg p.R6711W NEB_ENST00000603639.1_Missense_Mutation_p.R6711W|NEB_ENST00000409198.1_Missense_Mutation_p.R5010W|NEB_ENST00000172853.10_Missense_Mutation_p.R5010W|NEB_ENST00000397345.3_Missense_Mutation_p.R6711W|NEB_ENST00000604864.1_Missense_Mutation_p.R6711W NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 5010 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTGACTCTCCGGACGTGGACA 0.423000 18 76 0 0 0.000958276 0 0 BEST3 144453 broad.mit.edu 37 12 70049129 70049129 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:70049129G>A ENST00000330891.5 - 10 1791 c.1565C>T c.(1564-1566)tCc>tTc p.S522F BEST3_ENST00000553096.1_Missense_Mutation_p.S416F|BEST3_ENST00000488961.1_Missense_Mutation_p.S309F|BEST3_ENST00000331471.4_Intron NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 522 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GGAGGTAGCGGAATCATGGTG 0.552000 16 98 0 0 0.00121646 0 0 KIAA1614 57710 broad.mit.edu 37 1 180904771 180904771 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:180904771C>T ENST00000367588.4 + 5 1781 c.1726C>T c.(1726-1728)Ctg>Ttg p.L576L KIAA1614_ENST00000367587.1_Silent_p.L197L NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 576 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GCTGGGTGGCCTGAGCTCCCC 0.697000 5 19 0 0 0.000602214 0 0 COL20A1 57642 broad.mit.edu 37 20 61937359 61937359 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr20:61937359C>T ENST00000422202.1 + 4 532 c.464C>T c.(463-465)gCc>gTc p.A155V COL20A1_ENST00000358894.6_Missense_Mutation_p.A155V|COL20A1_ENST00000326996.6_Missense_Mutation_p.A155V|COL20A1_ENST00000435874.1_Missense_Mutation_p.A155V Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 155 cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) CCCCAAGTTGCCTTCACACCA 0.647000 5 32 0 0 0.000157383 0 0 STARD8 9754 broad.mit.edu 37 X 67937585 67937585 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrX:67937585G>A ENST00000252336.6 + 5 961 c.589G>A c.(589-591)Gcc>Acc p.A197T STARD8_ENST00000374599.3_Missense_Mutation_p.A277T|STARD8_ENST00000374597.3_Missense_Mutation_p.A197T NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 197 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 TACTCGGAAGGCCTGGGAGGC 0.612000 8 17 0 0 0.000274275 0 0 STARD8 9754 broad.mit.edu 37 X 67937584 67937584 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrX:67937584G>A ENST00000252336.6 + 5 960 c.588G>A c.(586-588)aaG>aaA p.K196K STARD8_ENST00000374599.3_Silent_p.K276K|STARD8_ENST00000374597.3_Silent_p.K196K NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 196 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 ATACTCGGAAGGCCTGGGAGG 0.617000 8 17 0 0 0.000274275 0 0 HSF2BP 11077 broad.mit.edu 37 21 44949686 44949686 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr21:44949686G>A ENST00000291560.2 - 9 1284 c.953C>T c.(952-954)aCc>aTc p.T318I HSF2BP_ENST00000542962.1_Missense_Mutation_p.T243I NM_007031.1 NP_008962.1 O75031 HSF2B_HUMAN heat shock transcription factor 2 binding protein 318 spermatogenesis|transcription from RNA polymerase II promoter cytosol binding kidney(2)|large_intestine(3)|prostate(1)|skin(1) 7 STAD - Stomach adenocarcinoma(101;0.18) CTGGGCTGCGGTTTGCAGGCG 0.597000 11 48 0 0 0.00136819 0 0 DOCK1 1793 broad.mit.edu 37 10 129209130 129209130 + Missense_Mutation SNP G G T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:129209130G>T ENST00000280333.6 + 43 4416 c.4307G>T c.(4306-4308)cGa>cTa p.R1436L NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1436 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GAGGTCCAGCGATTTGAATAT 0.413000 5 25 0.000602214 0.0037662 0.000602214 1 0 MTTP 4547 broad.mit.edu 37 4 100530059 100530059 + Missense_Mutation SNP G G C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:100530059G>C ENST00000457717.1 + 13 1950 c.1694G>C c.(1693-1695)gGg>gCg p.G565A MTTP_ENST00000265517.5_Missense_Mutation_p.G565A|MTTP_ENST00000511045.1_Missense_Mutation_p.G592A|RP11-766F14.1_ENST00000508578.1_RNA NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 565 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CTGTCTATTGGGGAGCTTCCC 0.418000 5 78 0 0 0.00116845 0 0 SEC14L5 9717 broad.mit.edu 37 16 5041926 5041926 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr16:5041926G>A ENST00000251170.7 + 6 742 c.562G>A c.(562-564)Gag>Aag p.E188K NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 188 integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 CCCAGTCCGTGAGGAGGATGC 0.662000 6 7 0 0 8.12818e-05 0 0 KRBA2 124751 broad.mit.edu 37 17 8273656 8273656 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:8273656G>A ENST00000396267.1 - 2 860 c.29C>T c.(28-30)cCa>cTa p.P10L KRBA2_ENST00000331336.2_Missense_Mutation_p.P92L|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000583963.1_RNA Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 92 DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1) 18 AACCCCAGGTGGATCATTTCC 0.388000 14 81 0 0 0.000219431 0 0 TPCN1 53373 broad.mit.edu 37 12 113704081 113704081 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:113704081G>A ENST00000550785.1 + 5 719 c.550G>A c.(550-552)Gag>Aag p.E184K TPCN1_ENST00000335509.6_Missense_Mutation_p.E112K|TPCN1_ENST00000541517.1_Missense_Mutation_p.E184K|TPCN1_ENST00000392569.4_Missense_Mutation_p.E44K NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 112 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 CTACCTGATGGAGCTGGCCAC 0.622000 46 216 0 0 0.000781405 0 0 TRO 7216 broad.mit.edu 37 X 54957315 54957315 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrX:54957315C>T ENST00000173898.7 + 12 4270 c.4158C>T c.(4156-4158)ttC>ttT p.F1386F TRO_ENST00000420798.2_Silent_p.F917F|TRO_ENST00000375041.2_Silent_p.F989F|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 1386 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 CCAGTGGCTTCAGCGGTGGAC 0.607000 17 24 0 0 0.000958276 0 0 LRFN2 57497 broad.mit.edu 37 6 40359793 40359793 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:40359793C>T ENST00000338305.6 - 3 2801 c.2259G>A c.(2257-2259)acG>acA p.T753T NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 753 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GGCTGCGCTTCGTCCAGATGT 0.642000 9 54 0 0 0.000442599 0 0 FBXO32 114907 broad.mit.edu 37 8 124518802 124518802 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:124518802C>T ENST00000517956.1 - 7 855 c.664G>A c.(664-666)Ggc>Agc p.G222S FBXO32_ENST00000443022.2_Missense_Mutation_p.G129S NM_058229.3|NM_148177.2 NP_478136.1|NP_680482.1 Q969P5 FBX32_HUMAN F-box protein 32 222 autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1) 21 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) AAGGTGAGGCCTTTGAAGGCA 0.632000 23 53 0 0 0.00047179 0 0 GPX6 257202 broad.mit.edu 37 6 28473486 28473486 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:28473486G>A ENST00000361902.1 - 4 502 c.453C>T c.(451-453)ttC>ttT p.F151F GPX6_ENST00000474923.1_Intron NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 151 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) GCACCTTCAGGAAAGTAAAGA 0.473000 42 43 0 0 0.000680045 0 0 BDKRB2 624 broad.mit.edu 37 14 96706850 96706850 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr14:96706850C>T ENST00000542454.2 + 3 3192 c.104C>T c.(103-105)cCc>cTc p.P35L RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Missense_Mutation_p.P62L|BDKRB2_ENST00000306005.3_Missense_Mutation_p.P62L|BDKRB2_ENST00000539359.1_Missense_Mutation_p.P35L P30411 BKRB2_HUMAN bradykinin receptor B2 62 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) ATCCAGCCCCCCTTCCTCTGG 0.587000 18 92 0 0 0.00074312 0 0 PSG9 5678 broad.mit.edu 37 19 43762387 43762387 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:43762387C>T ENST00000244293.7 - 4 997 c.931G>A c.(931-933)Gaa>Aaa p.E311K PSG9_ENST00000418820.2_Missense_Mutation_p.E311K|PSG9_ENST00000593948.1_Missense_Mutation_p.E311K|PSG9_ENST00000443718.3_Missense_Mutation_p.E311K|PSG9_ENST00000270077.3_Missense_Mutation_p.E404K|PSG9_ENST00000291752.5_Missense_Mutation_p.E218K|PSG9_ENST00000596730.1_Missense_Mutation_p.E218K Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 404 Ig-like C2-type 2. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) TTGGAGATTTCCTTGCCAGTG 0.448000 34 140 0 0 0.00058488 0 0 OR13C4 138804 broad.mit.edu 37 9 107288775 107288775 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:107288775G>A ENST00000277216.3 - 1 715 c.716C>T c.(715-717)tCt>tTt p.S239F NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 TGAGCATGTAGAAAATGCCTT 0.438000 16 88 0 0 0.00152264 0 0 C15orf27 123591 broad.mit.edu 37 15 76430111 76430111 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr15:76430111C>T ENST00000388942.3 + 3 378 c.102C>T c.(100-102)acC>acT p.T34T NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 34 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 ACGAAGAAACCAAGAGCATTG 0.527000 21 88 0 0 0.00188189 0 0 CEP170P1 645455 broad.mit.edu 37 4 119461450 119461450 + RNA SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:119461450G>A ENST00000412784.2 + 0 347 NR_003135.2 ACACCAGAAGGAAACAACGGT 0.448000 5 34 0 0 0.00116845 0 0 GUCY2C 2984 broad.mit.edu 37 12 14774139 14774139 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:14774139G>A ENST00000261170.3 - 23 2749 c.2613C>T c.(2611-2613)atC>atT p.I871I NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 871 Guanylate cyclase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 ACGCATCACCGATGGTTTCCA 0.443000 23 103 0 0 0.001512 0 0 EPB41L4B 54566 broad.mit.edu 37 9 112003968 112003968 + Nonsense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:112003968G>A ENST00000374557.4 - 16 2048 c.1531C>T c.(1531-1533)Cga>Tga p.R511* EPB41L4B_ENST00000374566.3_Intron NM_018424.2 NP_060894.2 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 0 His-rich. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AGTTTATCTCGATACATCATA 0.438000 15 81 0 0 0.000219431 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213403858 213403858 + Missense_Mutation SNP A A G TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:213403858A>G ENST00000366960.3 + 9 1213 c.1063A>G c.(1063-1065)Aca>Gca p.T355A RPS6KC1_ENST00000366959.3_Missense_Mutation_p.T343A|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.T143A|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.T58A NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 355 Protein kinase 1. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) TGTAATGGACACAAGGACAGA 0.343000 12 68 0 0 0.000219431 0 0 QRFP 347148 broad.mit.edu 37 9 133769068 133769068 + Nonsense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:133769068C>T ENST00000343079.1 - 1 157 c.158G>A c.(157-159)tGg>tAg p.W53* NM_198180.1 NP_937823.1 P83859 OX26_HUMAN pyroglutamylated RFamide peptide 53 locomotory behavior|neuropeptide signaling pathway|positive regulation of blood pressure|regulation of feeding behavior extracellular region neuropeptide hormone activity|orexigenic neuropeptide QRFP receptor binding cervix(1)|endometrium(3)|lung(1)|skin(2) 7 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267) AGAGGAACCCCACACGGAGTG 0.652000 9 27 0 0 0.000274275 0 0 PLCB1 23236 broad.mit.edu 37 20 8705394 8705394 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr20:8705394C>T ENST00000378641.3 + 16 2148 c.1673C>T c.(1672-1674)tCa>tTa p.S558L PLCB1_ENST00000378637.2_Missense_Mutation_p.S558L|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.S558L NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 558 PI-PLC Y-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TTTGAAATTTCAAAAAGTAAG 0.378000 6 42 0 0 8.12818e-05 0 0 CD33 945 broad.mit.edu 37 19 51729168 51729168 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:51729168C>T ENST00000436584.2 + 2 202 c.147C>T c.(145-147)atC>atT p.I49I CD33_ENST00000262262.4_Silent_p.I176I|CD33_ENST00000391796.3_Silent_p.I176I|CD33_ENST00000421133.2_Silent_p.I49I P20138 CD33_HUMAN CD33 molecule 176 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CACCCCCGATCTTCTCCTGGT 0.622000 12 43 0 0 0.00185496 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70674071 70674071 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:70674071C>T ENST00000260126.3 - 3 1653 c.947G>A c.(946-948)gGa>gAa p.G316E SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G316E|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G316E NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 316 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TAATAAATATCCCACTGCAGG 0.418000 16 34 0 0 0.000422831 0 0 LAMB3 3914 broad.mit.edu 37 1 209799263 209799263 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:209799263C>T ENST00000391911.1 - 13 2095 c.1706G>A c.(1705-1707)cGa>cAa p.R569Q LAMB3_ENST00000367030.3_Missense_Mutation_p.R569Q|LAMB3_ENST00000356082.4_Missense_Mutation_p.R569Q NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 569 Laminin EGF-like 6. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) ACAGTAGCCTCGCTGGCACTG 0.662000 5 21 0 0 0.000602214 0 0 SEC24C 9632 broad.mit.edu 37 10 75530515 75530515 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:75530515C>T ENST00000339365.2 + 23 3265 c.3103C>T c.(3103-3105)Ctc>Ttc p.L1035F SEC24C_ENST00000540668.1_Missense_Mutation_p.L283F|SEC24C_ENST00000345254.4_Missense_Mutation_p.L1035F|SEC24C_ENST00000535742.1_Missense_Mutation_p.L283F|SEC24C_ENST00000411652.2_Missense_Mutation_p.L916F NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 1035 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) GGTTCGAGGCCTCATTGATAG 0.458000 14 57 0 0 0.000566183 0 0 ENPP7 339221 broad.mit.edu 37 17 77708919 77708919 + Silent SNP A A G TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:77708919A>G ENST00000328313.5 + 3 698 c.477A>G c.(475-477)aaA>aaG p.K159K NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 159 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGAGCCGGAAAGAAGGCATCG 0.587000 9 58 0 0 0.000442599 0 0 CAPN5 726 broad.mit.edu 37 11 76831942 76831942 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:76831942C>T ENST00000278559.3 + 10 1663 c.1474C>T c.(1474-1476)Ccc>Tcc p.P492S CAPN5_ENST00000456580.2_Missense_Mutation_p.P532S|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.P492S NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 492 Domain III. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 CACTGATGTGCCCTCCAACTG 0.622000 28 68 0 0 0.00178596 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38647417 38647417 + RNA SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:38647417C>T ENST00000494540.1 + 0 288 NR_003086.1 AGTCATTCTTCCGGGCCTCCA 0.473000 15 49 0 0 0.00121646 0 0 KRT1 3848 broad.mit.edu 37 12 53073598 53073598 + Nonsense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:53073598G>A ENST00000252244.3 - 1 593 c.535C>T c.(535-537)Cga>Tga p.R179* NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 179 Head. Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas). complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 TCCCTTTCTCGAGACTTCACC 0.498000 19 106 0 0 0.000295444 0 0 C9orf135 138255 broad.mit.edu 37 9 72471547 72471547 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:72471547C>T ENST00000377197.3 + 3 425 c.338C>T c.(337-339)gCt>gTt p.A113V C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.A113V NM_001010940.1 NP_001010940.1 Q5VTT2 CI135_HUMAN chromosome 9 open reading frame 135 113 integral to membrane endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 AAGAGCAAGGCTTTATTGAAT 0.353000 11 47 0 0 0.000673444 0 0 GALNTL6 442117 broad.mit.edu 37 4 173232893 173232893 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:173232893C>T ENST00000506823.1 + 4 1033 c.376C>T c.(376-378)Cgt>Tgt p.R126C GALNTL6_ENST00000508122.1_Missense_Mutation_p.R109C|GALNTL6_ENST00000457021.1_3'UTR NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 126 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.R126C(1) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 GCCAGATATTCGTCATGCTAA 0.373000 25 150 0 0 0.000339439 0 0 NRP2 8828 broad.mit.edu 37 2 206659641 206659641 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:206659641C>T ENST00000360409.3 + 17 3446 c.2655C>T c.(2653-2655)ggC>ggT p.G885G NRP2_ENST00000357785.5_Silent_p.G880G|NRP2_ENST00000412873.2_Silent_p.G863G|NRP2_ENST00000540841.1_Silent_p.G863G|NRP2_ENST00000540178.1_Silent_p.G880G NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 885 angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 CCTGTGCAGGCCTCCTGCTCT 0.582000 14 51 0 0 0.000566183 0 0 OR4X1 390113 broad.mit.edu 37 11 48285724 48285724 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:48285724C>T ENST00000320048.1 + 1 312 c.312C>T c.(310-312)ttC>ttT p.F104F NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 CCCTCCATTTCTTTGGTGGCA 0.498000 13 43 0 0 0.00185496 0 0 GALNT8 26290 broad.mit.edu 37 12 4854792 4854792 + Splice_Site SNP A A G TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:4854792A>G ENST00000252318.2 + 5 1395 c.1058_splice c.e5+1 p.K353_splice NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 353 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 GCCCCAGTGAAGTAAGTCTGA 0.478000 6 30 0 0 8.12818e-05 0 0 WDR31 114987 broad.mit.edu 37 9 116079163 116079163 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:116079163C>T ENST00000374193.4 - 11 1216 c.970G>A c.(970-972)Gga>Aga p.G324R WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_Missense_Mutation_p.G199R|WDR31_ENST00000341761.4_Missense_Mutation_p.G323R NM_001012361.2|NM_145241.3 NP_001012361.1|NP_660284.1 Q8NA23 WDR31_HUMAN WD repeat domain 31 324 NS(1)|large_intestine(1)|lung(2)|prostate(2) 6 GGTCCTGATCCATCCAGAGAC 0.483000 10 32 0 0 0.000978159 0 0 EBF3 253738 broad.mit.edu 37 10 131640555 131640555 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:131640555C>T ENST00000368648.3 - 13 1242 c.1170G>A c.(1168-1170)gaG>gaA p.E390E EBF3_ENST00000355311.5_Silent_p.E399E NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 399 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TCAAGATGATCTCCTGCAGCA 0.667000 13 30 0 0 0.00185496 0 0 MEGF8 1954 broad.mit.edu 37 19 42848898 42848898 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:42848898C>T ENST00000334370.4 + 12 2645 c.2010C>T c.(2008-2010)tcC>tcT p.S670S MEGF8_ENST00000251268.6_Silent_p.S670S NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 720 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) TCGTCACGTCCCTGGAGGCCT 0.672000 13 64 0 0 0.00185496 0 0 OR4L1 122742 broad.mit.edu 37 14 20528840 20528840 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr14:20528840C>T ENST00000315683.1 + 1 637 c.637C>T c.(637-639)Ctc>Ttc p.L213F NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) CTGTTTCATCCTCTTGCTTGT 0.453000 12 116 0 0 0.000219431 0 0 C5orf42 65250 broad.mit.edu 37 5 37169642 37169642 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:37169642G>A ENST00000274258.7 - 34 6711 c.3124C>T c.(3124-3126)Cct>Tct p.P1042S C5orf42_ENST00000425232.2_Missense_Mutation_p.P2162S|C5orf42_ENST00000508244.1_Missense_Mutation_p.P2162S E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 2162 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TGACATAAAGGAATACTCCCA 0.358000 27 54 0 0 0.00178596 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17692134 17692134 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:17692134C>T ENST00000399080.2 - 3 3440 c.3417G>A c.(3415-3417)agG>agA p.R1139R NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 1139 Interaction with RAD51. endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GTTGTTTAATCCTTGCTTTTC 0.323000 6 33 0 0 8.12818e-05 0 0 ZNF812 729648 broad.mit.edu 37 19 9801609 9801609 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:9801609C>T ENST00000457674.2 - 5 1088 c.570G>A c.(568-570)gaG>gaA p.E190E ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CACAGAATTTCTCTCCAATGT 0.368000 6 15 0 0 0.00116845 0 0 BDKRB2 624 broad.mit.edu 37 14 96706849 96706849 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr14:96706849C>T ENST00000542454.2 + 3 3191 c.103C>T c.(103-105)Ccc>Tcc p.P35S RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Missense_Mutation_p.P62S|BDKRB2_ENST00000306005.3_Missense_Mutation_p.P62S|BDKRB2_ENST00000539359.1_Missense_Mutation_p.P35S P30411 BKRB2_HUMAN bradykinin receptor B2 62 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) CATCCAGCCCCCCTTCCTCTG 0.587000 19 93 0 0 0.000958276 0 0 COL5A1 1289 broad.mit.edu 37 9 137591825 137591825 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:137591825G>A ENST00000371817.3 + 3 762 c.348G>A c.(346-348)ctG>ctA p.L116L COL5A1_ENST00000464187.1_3'UTR NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 116 Laminin G-like.|TSP N-terminal. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGGCCTTCCTGGTCTCCATCT 0.592000 13 69 0 0 0.00136819 0 0 IQUB 154865 broad.mit.edu 37 7 123143007 123143007 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:123143007C>T ENST00000466202.1 - 5 1434 c.858G>A c.(856-858)agG>agA p.R286R IQUB_ENST00000488987.1_5'UTR|IQUB_ENST00000434450.1_Silent_p.R286R|IQUB_ENST00000324698.6_Silent_p.R286R Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 286 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 CCTGCGTATCCCTACAAAATA 0.338000 11 72 0 0 0.000219431 0 0 GOLGA4 2803 broad.mit.edu 37 3 37368450 37368450 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:37368450G>A ENST00000361924.2 + 14 5447 c.5073G>A c.(5071-5073)ttG>ttA p.L1691L GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.L1713L NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 1691 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TTCACATCTTGGAAGAAAAAC 0.358000 32 155 0 0 0.000339439 0 0 LOC101929006 101929006 broad.mit.edu 37 6 29231360 29231360 + RNA SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:29231360C>T ENST00000441381.1 + 0 79 GTCTCCGCATCGAGGAAGACT 0.468000 15 90 0 0 0.000219431 0 0 CRMP1 1400 broad.mit.edu 37 4 5837688 5837688 + Nonsense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:5837688C>T ENST00000324989.7 - 11 1665 c.1577G>A c.(1576-1578)tGg>tAg p.W526* CRMP1_ENST00000512574.1_Nonsense_Mutation_p.W410*|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Nonsense_Mutation_p.W412* NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 412 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) GTCGGGGTCCCAGATGACCAC 0.507000 13 84 0 0 0.00136819 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382325 41382325 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:41382325C>T ENST00000377801.3 - 2 489 c.415G>A c.(415-417)Gta>Ata p.V139I PLCXD3_ENST00000328457.3_Missense_Mutation_p.V139I Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 139 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 AAGAACACTACCTCCTTATGG 0.418000 8 92 0 0 0.000157383 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118215322 118215322 + Missense_Mutation SNP C C A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:118215322C>A ENST00000369230.3 + 5 691 c.545C>A c.(544-546)cCa>cAa p.P182Q NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 182 lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) TCAAGGATACCAGGCCTTGGA 0.443000 5 56 0.00116845 0.00727623 0.00116845 1 0 SHROOM4 57477 broad.mit.edu 37 X 50351041 50351041 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrX:50351041G>A ENST00000376020.2 - 6 3126 c.3101C>T c.(3100-3102)tCa>tTa p.S1034L SHROOM4_ENST00000460112.3_Missense_Mutation_p.S918L|SHROOM4_ENST00000289292.7_Missense_Mutation_p.S1034L NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1034 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) AGTTTCCTCTGATTTTTTCAA 0.522000 7 7 0 0 0.000157383 0 0 CAMKK2 10645 broad.mit.edu 37 12 121706444 121706444 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:121706444G>A ENST00000324774.5 - 5 1450 c.622C>T c.(622-624)Cca>Tca p.P208S CAMKK2_ENST00000392474.2_Missense_Mutation_p.P208S|CAMKK2_ENST00000446440.2_Missense_Mutation_p.P208S|CAMKK2_ENST00000347034.2_Missense_Mutation_p.P208S|CAMKK2_ENST00000392473.2_Missense_Mutation_p.P208S|CAMKK2_ENST00000538733.1_Missense_Mutation_p.P208S|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000412367.2_Missense_Mutation_p.P208S|CAMKK2_ENST00000404169.3_Missense_Mutation_p.P208S|CAMKK2_ENST00000402834.4_Missense_Mutation_p.P208S|CAMKK2_ENST00000337174.3_Missense_Mutation_p.P208S NM_006549.3 NP_006540.3 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase kinase 2, beta 208 Protein kinase.|RP domain. calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AACTCACGTGGAAAGCCGGCC 0.557000 45 252 0 0 0.000781405 0 0 PEX1 5189 broad.mit.edu 37 7 92134177 92134177 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:92134177G>A ENST00000248633.4 - 12 2035 c.1940C>T c.(1939-1941)gCt>gTt p.A647V PEX1_ENST00000541751.1_Missense_Mutation_p.A64V|PEX1_ENST00000438045.1_Missense_Mutation_p.A325V|PEX1_ENST00000428214.1_Intron NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 647 Missing (in NALD). microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CTCTGAGAAAGCCACCTCTAG 0.458000 20 99 0 0 0.00047179 0 0 SLC35D2 11046 broad.mit.edu 37 9 99084312 99084312 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:99084312G>A ENST00000253270.7 - 11 944 c.882C>T c.(880-882)ttC>ttT p.F294F SLC35D2_ENST00000375259.4_Silent_p.F206F NM_007001.2 NP_008932.2 Q76EJ3 S35D2_HUMAN solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2 294 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity endometrium(3)|large_intestine(3)|lung(4)|skin(2) 12 Acute lymphoblastic leukemia(62;0.0167) TTAACAAAGAGAAAATGTAGT 0.353000 23 113 0 0 0.000878237 0 0 CFB 629 broad.mit.edu 37 6 31912609 31912609 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:31912609G>A ENST00000556679.1 + 13 1604 c.1549G>A c.(1549-1551)Gag>Aag p.E517K C2_ENST00000469372.1_Missense_Mutation_p.E424K|C2_ENST00000468407.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.E441K|C2_ENST00000452323.2_Missense_Mutation_p.E456K|CFB_ENST00000456570.1_Missense_Mutation_p.E517K|C2_ENST00000442278.2_Missense_Mutation_p.E538K|C2_ENST00000299367.5_Missense_Mutation_p.E670K P00751 CFAB_HUMAN complement factor B 690 Peptidase S1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 TGGGACCCAGGAGGATGAGAG 0.562000 82 101 0 0 0.000781405 0 0 USP32 84669 broad.mit.edu 37 17 58288737 58288737 + Splice_Site SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:58288737C>T ENST00000300896.4 - 20 2512 c.2318_splice c.e20+1 p.R773_splice USP32_ENST00000592339.1_Splice_Site_p.R443_splice NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 773 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) GAAAGATTACCTGTTGAGTTC 0.398000 5 125 0 0 8.12818e-05 0 0 TTN 7273 broad.mit.edu 37 2 179640518 179640518 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:179640518C>T ENST00000589042.1 - 28 6297 c.6073G>A c.(6073-6075)Gaa>Aaa p.E2025K TTN_ENST00000342992.6_Missense_Mutation_p.E2025K|TTN_ENST00000342175.6_Missense_Mutation_p.E1979K|TTN_ENST00000460472.2_Missense_Mutation_p.E1979K|TTN_ENST00000360870.5_Missense_Mutation_p.E2025K|TTN_ENST00000591111.1_Missense_Mutation_p.E2025K|TTN_ENST00000359218.5_Missense_Mutation_p.E1979K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1787 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCATAGGATTCATCCTTCTTT 0.458000 47 84 0 0 0.000781405 0 0 DLG1 1739 broad.mit.edu 37 3 196831779 196831779 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:196831779G>A ENST00000346964.2 - 15 1829 c.1640C>T c.(1639-1641)cCt>cTt p.P547L DLG1_ENST00000452595.1_Missense_Mutation_p.P431L|DLG1_ENST00000450955.1_Missense_Mutation_p.P514L|DLG1_ENST00000448528.2_Missense_Mutation_p.P547L|DLG1_ENST00000443183.1_Missense_Mutation_p.P431L|DLG1_ENST00000422288.1_Missense_Mutation_p.P496L|DLG1_ENST00000419354.1_Missense_Mutation_p.P547L|DLG1_ENST00000314062.3_Missense_Mutation_p.P496L|DLG1_ENST00000357674.4_Missense_Mutation_p.P514L|DLG1_ENST00000392382.2_Missense_Mutation_p.P514L NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 547 actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) ATTACCTTCAGGTCGATATTG 0.358000 40 148 0 0 0.00195071 0 0 TLR10 81793 broad.mit.edu 37 4 38775819 38775819 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:38775819G>A ENST00000308973.4 - 4 1998 c.1393C>T c.(1393-1395)Ctg>Ttg p.L465L TLR10_ENST00000506111.1_Silent_p.L465L|TLR10_ENST00000508334.1_Silent_p.L465L|TLR10_ENST00000361424.2_Silent_p.L465L NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 465 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 AAGGCCATCAGATGAATAGTC 0.343000 18 69 0 0 0.00074312 0 0 IDUA 3425 broad.mit.edu 37 4 995681 995681 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:995681C>T ENST00000453894.1 + 5 751 c.663C>T c.(661-663)gcC>gcT p.A221A IDUA_ENST00000247933.4_Intron|IDUA_ENST00000514224.1_Intron P35475 IDUA_HUMAN iduronidase, alpha-L- 20 disaccharide metabolic process lysosome cation binding|L-iduronidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) TGCGCCCTGCCCCTCCGTCCG 0.741000 4 6 0 0 0.00024832 0 0 FTH1P3 2498 broad.mit.edu 37 5 17354308 17354308 + RNA SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:17354308G>A ENST00000511821.1 + 0 167 FTH1P10_ENST00000401830.3_RNA CCACCTCCTTGGTTCTGCAGC 0.473000 34 95 0 0 0.000814825 0 0 APOB 338 broad.mit.edu 37 2 21245739 21245739 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:21245739G>A ENST00000233242.1 - 18 2907 c.2780C>T c.(2779-2781)cCt>cTt p.P927L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 927 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTTTGGGGAAGGAATGATAAA 0.498000 37 219 0 0 0.00148497 0 0 NELL1 4745 broad.mit.edu 37 11 20869159 20869159 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:20869159G>A ENST00000298925.5 + 5 603 c.450G>A c.(448-450)agG>agA p.R150R NELL1_ENST00000325319.5_Intron|NELL1_ENST00000357134.5_Silent_p.R122R|NELL1_ENST00000532434.1_Silent_p.R122R Q92832 NELL1_HUMAN NEL-like 1 (chicken) 122 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 GTGGCCTGAGGGATGAGATTC 0.448000 12 30 0 0 0.00185496 0 0 DNAH7 56171 broad.mit.edu 37 2 196722214 196722214 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:196722214G>A ENST00000312428.6 - 44 8401 c.8301C>T c.(8299-8301)atC>atT p.I2767I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2767 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTTTTCTTATGATATTCATAT 0.393000 23 57 0 0 0.000295444 0 0 SLC9C1 285335 broad.mit.edu 37 3 111923085 111923085 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:111923085G>A ENST00000305815.5 - 17 2404 c.2152C>T c.(2152-2154)Cgt>Tgt p.R718C SLC9C1_ENST00000487372.1_Missense_Mutation_p.R670C NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 718 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity CGTAGTATACGAAAAAATTGA 0.264000 7 49 0 0 0.000157383 0 0 OR10H5 284433 broad.mit.edu 37 19 15905071 15905071 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:15905071C>T ENST00000308940.8 + 1 311 c.213C>T c.(211-213)atC>atT p.I71I NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 TCACCGAGATCCTCTACACCG 0.622000 11 54 0 0 0.00136819 0 0 CDH17 1015 broad.mit.edu 37 8 95186399 95186399 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:95186399G>A ENST00000027335.3 - 6 638 c.514C>T c.(514-516)Ccc>Tcc p.P172S CDH17_ENST00000450165.2_Missense_Mutation_p.P172S|CDH17_ENST00000441892.2_Intron NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 172 Cadherin 2. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TTGATCATGGGAAGCTGGATG 0.483000 64 129 0 0 0.000781405 0 0 EEF1DP3 196549 broad.mit.edu 37 13 32527072 32527072 + RNA SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr13:32527072C>T ENST00000428783.1 + 0 772 TCCCATGCGCCAAGTGGAGCC 0.612000 5 30 0 0 0.00116845 0 0 ZBTB41 360023 broad.mit.edu 37 1 197129067 197129067 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:197129067G>A ENST00000367405.4 - 10 2220 c.2152C>T c.(2152-2154)Cat>Tat p.H718Y ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 GCATCAGAATGAATAACCAGG 0.333000 14 52 0 0 0.000219431 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058761 152058761 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:152058761C>T ENST00000368806.1 - 3 1461 c.1397G>A c.(1396-1398)gGa>gAa p.G466E NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 466 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TGCCTCTTCTCCTGAGACTGC 0.458000 34 161 0 0 0.00170553 0 0 KIAA1199 57214 broad.mit.edu 37 15 81187419 81187419 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr15:81187419G>A ENST00000394685.3 + 11 1594 c.1175G>A c.(1174-1176)aGa>aAa p.R392K KIAA1199_ENST00000356249.5_Missense_Mutation_p.R392K|KIAA1199_ENST00000220244.3_Missense_Mutation_p.R392K Q8WUJ3 K1199_HUMAN KIAA1199 392 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GACCGGGGCAGAGCCTGCCGG 0.547000 5 49 0 0 0.000602214 0 0 ALPK2 115701 broad.mit.edu 37 18 56202291 56202291 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr18:56202291C>T ENST00000361673.3 - 5 5341 c.5128G>A c.(5128-5130)Gag>Aag p.E1710K NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1710 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CTCTTGACCTCCTCTGACCCC 0.567000 11 73 0 0 0.000978159 0 0 GRM6 2916 broad.mit.edu 37 5 178410107 178410107 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:178410107G>A ENST00000231188.5 - 9 2418 c.2240C>T c.(2239-2241)tCg>tTg p.S747L GRM6_ENST00000517717.1_Missense_Mutation_p.S747L|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 747 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) AGACAGATCCGACATGTCGCA 0.642000 20 38 0 0 0.00121646 0 0 CALB1 793 broad.mit.edu 37 8 91094259 91094259 + Missense_Mutation SNP C C G TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:91094259C>G ENST00000265431.3 - 2 332 c.151G>C c.(151-153)Gga>Cga p.G51R NM_004929.2 NP_004920.1 P05937 CALB1_HUMAN calbindin 1, 28kDa 51 nucleus calcium ion binding|vitamin D binding breast(1)|kidney(1)|lung(8)|pancreas(1) 11 BRCA - Breast invasive adenocarcinoma(11;0.00953) CCTACCAATCCAGCCTTCTTT 0.453000 11 178 0 0 0.000219431 0 0 EML1 2009 broad.mit.edu 37 14 100405642 100405642 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr14:100405642C>T ENST00000262233.6 + 21 2439 c.2300C>T c.(2299-2301)tCa>tTa p.S767L EML1_ENST00000334192.4_Missense_Mutation_p.S786L|EML1_ENST00000327921.9_Missense_Mutation_p.S755L NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 767 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) CACCTCTTCTCATACCCCTGC 0.537000 7 30 0 0 0.000157383 0 0 SOX1 6656 broad.mit.edu 37 13 112722044 112722044 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr13:112722044C>T ENST00000330949.1 + 1 132 c.72C>T c.(70-72)ggC>ggT p.G24G NM_005986.2 NP_005977.2 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 24 chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4) 4 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) ACCTCTCGGGCCCCGCCGGGG 0.781000 6 9 0 0 8.12818e-05 0 0 MAP2K2 5605 broad.mit.edu 37 19 4117551 4117551 + Missense_Mutation SNP A A G rs121434498 TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:4117551A>G ENST00000262948.5 - 2 422 c.169T>C c.(169-171)Ttt>Ctt p.F57L MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR NM_030662.3 NP_109587.1 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 57 F -> C (in CFC syndrome). activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGTGAGAAAGGCTTCCAGC 0.597000 14 68 0 0 0.000308642 0 0 HMBOX1 79618 broad.mit.edu 37 8 28902934 28902934 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:28902934C>T ENST00000397358.3 + 8 1612 c.908C>T c.(907-909)gCt>gTt p.A303V HMBOX1_ENST00000523613.1_Missense_Mutation_p.A303V|HMBOX1_ENST00000558662.1_Missense_Mutation_p.A303V|HMBOX1_ENST00000287701.10_Missense_Mutation_p.A303V|HMBOX1_ENST00000524238.1_Missense_Mutation_p.A303V|HMBOX1_ENST00000355231.5_Missense_Mutation_p.A303V|HMBOX1_ENST00000519047.1_Missense_Mutation_p.A303V|HMBOX1_ENST00000444075.1_Missense_Mutation_p.A303V NM_024567.3 NP_078843.2 Q6NT76 HMBX1_HUMAN homeobox containing 1 303 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 11 Ovarian(32;0.0192) KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161) ATTGCAAACGCTTGCAATGCA 0.453000 38 78 0 0 0.00128727 0 0 LIPE 3991 broad.mit.edu 37 19 42907128 42907128 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:42907128C>T ENST00000244289.4 - 9 2874 c.2598G>A c.(2596-2598)ctG>ctA p.L866L LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 866 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) AATCCGTGCCCAGTGGGCCCT 0.622000 8 68 0 0 0.000274275 0 0 ACBD6 84320 broad.mit.edu 37 1 180382602 180382602 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:180382602C>T ENST00000367595.3 - 5 1159 c.472G>A c.(472-474)Gaa>Aaa p.E158K NM_032360.3 NP_115736.1 Q9BR61 ACBD6_HUMAN acyl-CoA binding domain containing 6 158 cytoplasm|nucleus fatty-acyl-CoA binding ACBD6/RRP15(2) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 7 TTTTTGTCTTCTTCCCTAGAA 0.303000 20 54 0 0 0.000295444 0 0 ZNF568 374900 broad.mit.edu 37 19 37440683 37440683 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:37440683C>T ENST00000415168.1 + 5 812 c.436C>T c.(436-438)Cca>Tca p.P146S ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.P210S|ZNF568_ENST00000427117.1_Intron NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 210 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTTTGGGAAACCATTTTACCA 0.373000 9 109 0 0 0.000274275 0 0 OR10G7 390265 broad.mit.edu 37 11 123909307 123909307 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:123909307C>T ENST00000330487.5 - 1 410 c.402G>A c.(400-402)atG>atA p.M134I NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GCCCAGTCATCATGTTGGTGT 0.542000 20 72 0 0 0.000295444 0 0 UNC13C 440279 broad.mit.edu 37 15 54590052 54590052 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr15:54590052G>A ENST00000545554.1 + 11 4032 c.4032G>A c.(4030-4032)ttG>ttA p.L1344L UNC13C_ENST00000537900.1_Silent_p.L1342L|UNC13C_ENST00000260323.11_Silent_p.L1344L Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1344 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CCATACGATTGAAAATCAATG 0.333000 6 24 0 0 8.12818e-05 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 58 0 0 0.000602214 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52004611 52004611 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:52004611C>T ENST00000291707.3 - 1 432 c.377G>A c.(376-378)gGa>gAa p.G126E NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 126 Ig-like V-type 1. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TTTCATATTTCCTCTCTCTAC 0.473000 16 69 0 0 0.000308642 0 0 RIN2 54453 broad.mit.edu 37 20 19981530 19981530 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr20:19981530C>T ENST00000255006.6 + 12 2934 c.2785C>T c.(2785-2787)Cct>Tct p.P929S RIN2_ENST00000440354.2_Missense_Mutation_p.P447S|RIN2_ENST00000484638.1_3'UTR NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 880 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity p.P880S(1) autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 CAAGAACGATCCTTATGGCAT 0.537000 7 46 0 0 0.000157383 0 0 STAB1 23166 broad.mit.edu 37 3 52539133 52539133 + Missense_Mutation SNP C C T rs144229839 byFrequency TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:52539133C>T ENST00000321725.6 + 13 1568 c.1492C>T c.(1492-1494)Ccc>Tcc p.P498S NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 498 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GTGGCAGGCCCCCTCTGGGAC 0.612000 19 70 0 0 0.000958276 0 0 HIVEP3 59269 broad.mit.edu 37 1 42045927 42045927 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:42045927G>A ENST00000372584.1 - 3 5556 c.4542C>T c.(4540-4542)ccC>ccT p.P1514P HIVEP3_ENST00000247584.5_Silent_p.P1514P|HIVEP3_ENST00000429157.2_Silent_p.P1514P|HIVEP3_ENST00000372583.1_Silent_p.P1514P NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1514 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGTGAGGGAGGGGAGGAATTT 0.557000 19 32 0 0 0.000295444 0 0 IGHV3-21 28444 broad.mit.edu 37 14 106691865 106691865 + RNA SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr14:106691865C>T ENST00000390607.2 - 0 237 GGACCCAGTTCATGCTATAGC 0.567000 20 75 0 0 0.000375601 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173882230 173882230 + Missense_Mutation SNP A A C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:173882230A>C ENST00000264111.6 + 21 2190 c.2003A>C c.(2002-2004)gAa>gCa p.E668A RAPGEF4_ENST00000540783.1_Missense_Mutation_p.E516A|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.E516A|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.E449A|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.E669A|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.E669A|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.E525A|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.E498A Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 669 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) GGCTCTGATGAAGGTGAGAAC 0.458000 20 32 0 0 0.000295444 0 0 ESYT3 83850 broad.mit.edu 37 3 138184246 138184246 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:138184246G>A ENST00000389567.4 + 10 1338 c.1152G>A c.(1150-1152)agG>agA p.R384R NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 384 C2 1. integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 ATACCGACAGGGATGACTTCC 0.597000 25 109 0 0 0.001512 0 0 ASMTL 8623 broad.mit.edu 37 X 1546836 1546836 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrX:1546836G>A ENST00000534940.1 - 7 739 c.514C>T c.(514-516)Ccg>Tcg p.P172S ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000381333.4_Missense_Mutation_p.P214S|ASMTL_ENST00000381317.3_Missense_Mutation_p.P230S|ASMTL_ENST00000416733.2_Missense_Mutation_p.P154S NM_001173473.1 NP_001166944.1 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 230 MAF-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCCGCGGCCGGGATGGAGTCG 0.682000 10 34 0 0 0.000673444 0 0 NPY5R 4889 broad.mit.edu 37 4 164272298 164272298 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:164272298G>A ENST00000515560.1 + 4 2395 c.873G>A c.(871-873)aaG>aaA p.K291K NPY5R_ENST00000506953.1_Silent_p.K291K|NPY5R_ENST00000338566.3_Silent_p.K291K Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 291 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) GATATAGCAAGAAGACAGCAT 0.423000 15 84 0 0 0.000219431 0 0 PDE8B 8622 broad.mit.edu 37 5 76645267 76645267 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:76645267G>A ENST00000264917.5 + 8 945 c.900G>A c.(898-900)agG>agA p.R300R PDE8B_ENST00000342343.4_Silent_p.R280R|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000333194.4_Silent_p.R300R NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 300 PAS. cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) CCTTCGAAAGGATGATGGGCT 0.498000 33 187 0 0 0.00058488 0 0 IGSF10 285313 broad.mit.edu 37 3 151155011 151155011 + Silent SNP A A G TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:151155011A>G ENST00000282466.3 - 6 7337 c.7338T>C c.(7336-7338)agT>agC p.S2446S IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2446 Ig-like C2-type 11. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GAGATTCTCCACTGATGCCTT 0.393000 14 84 0 0 0.000422831 0 0 ZNF329 79673 broad.mit.edu 37 19 58640350 58640350 + Missense_Mutation SNP G G A rs147789299 TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:58640350G>A ENST00000598312.1 - 4 754 c.521C>T c.(520-522)tCg>tTg p.S174L ZNF329_ENST00000358067.4_Missense_Mutation_p.S174L NM_024620.3 NP_078896.3 Q86UD4 ZN329_HUMAN zinc finger protein 329 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) ACCTTCATACGATTTCTTGCC 0.363000 13 46 0 0 0.00185496 0 0 SLC9C1 285335 broad.mit.edu 37 3 111888124 111888124 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:111888124G>A ENST00000305815.5 - 24 3223 c.2971C>T c.(2971-2973)Cct>Tct p.P991S SLC9C1_ENST00000487372.1_Missense_Mutation_p.P943S NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 991 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TTAATGAGAGGAGAGCATTGC 0.338000 10 65 0 0 0.000442599 0 0 NME1 4830 broad.mit.edu 37 17 49237347 49237347 + Missense_Mutation SNP G G A rs140072006 TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:49237347G>A ENST00000511355.1 + 3 219 c.133G>A c.(133-135)Gaa>Aaa p.E45K NME1_ENST00000393196.3_Missense_Mutation_p.E45K|NME1_ENST00000013034.3_Missense_Mutation_p.E70K|NME2_ENST00000393193.2_Missense_Mutation_p.E45K|NME2_ENST00000376392.6_Missense_Mutation_p.E45K|NME2_ENST00000555572.1_Missense_Mutation_p.E70K|NME1_ENST00000336097.3_Missense_Mutation_p.E70K|NME1_ENST00000480143.1_Missense_Mutation_p.E70K NME/NM23 nucleoside diphosphate kinase 1 endometrium(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) ATAGGCTTCCGAAGATCTTCT 0.468000 7 96 0 0 0.000442599 0 0 ZNF733P 643955 broad.mit.edu 37 7 62753117 62753117 + RNA SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:62753117C>T ENST00000331425.6 - 0 318 NR_003952.1 TCCACATTTTCCATATGTTCT 0.378000 15 112 0 0 0.00188189 0 0 FNBP4 23360 broad.mit.edu 37 11 47754103 47754103 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:47754103G>A ENST00000263773.5 - 11 1818 c.1806C>T c.(1804-1806)tcC>tcT p.S602S FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 602 WW 2. NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 CCCAGTGGCAGGACCAGCCTT 0.468000 32 168 0 0 0.000692331 0 0 GNB1L 54584 broad.mit.edu 37 22 19808831 19808831 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr22:19808831G>A ENST00000329517.6 - 3 284 c.48C>T c.(46-48)ctC>ctT p.L16L GNB1L_ENST00000405009.1_Silent_p.L16L|GNB1L_ENST00000403325.1_Silent_p.L16L|GNB1L_ENST00000460402.1_Intron NM_053004.2 NP_443730.1 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1-like 16 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 12 Colorectal(54;0.0993) GGGTGCCTCGGAGGACAAACT 0.677000 27 54 0 0 0.000339439 0 0 OR10J5 127385 broad.mit.edu 37 1 159505130 159505130 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:159505130G>A ENST00000334857.2 - 1 712 c.668C>T c.(667-669)tCc>tTc p.S223F NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) TTGAAGGATGGAAGAGATGAC 0.443000 10 39 0 0 0.000673444 0 0 PCLO 27445 broad.mit.edu 37 7 82544610 82544610 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:82544610G>A ENST00000423517.2 - 7 13029 c.12692C>T c.(12691-12693)tCc>tTc p.S4231F PCLO_ENST00000437081.1_Missense_Mutation_p.S951F|PCLO_ENST00000333891.8_Missense_Mutation_p.S4231F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4162 Ser-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S4231F(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGCCCTGGAGGAAATGCCACC 0.388000 6 44 0 0 0.000157383 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111926204 111926204 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr13:111926204C>T ENST00000375741.2 + 11 1430 c.1180C>T c.(1180-1182)Cct>Tct p.P394S ARHGEF7_ENST00000478679.1_Missense_Mutation_p.P138S|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.P344S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P216S|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P301S|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P216S|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P291S|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.P216S|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.P216S|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.P373S|ARHGEF7_ENST00000483189.1_3'UTR NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 394 DH. apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TGCCAGCAGCCCTGGGATTCT 0.557000 16 46 0 0 0.000958276 0 0 KCNQ3 3786 broad.mit.edu 37 8 133153554 133153554 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:133153554C>T ENST00000388996.4 - 10 1707 c.1287G>A c.(1285-1287)cgG>cgA p.R429R KCNQ3_ENST00000519445.1_Silent_p.R429R|KCNQ3_ENST00000521134.1_Silent_p.R309R NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 429 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) AAAGGCGAACCCGATCCAAGA 0.418000 33 54 0 0 0.00058488 0 0 DSEL 92126 broad.mit.edu 37 18 65178797 65178797 + Nonsense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr18:65178797G>A ENST00000310045.7 - 2 4552 c.3079C>T c.(3079-3081)Cag>Tag p.Q1027* CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 1017 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) AAAACTTCCTGAAAAAAATGA 0.408000 23 105 0 0 0.000586117 0 0 P4HTM 54681 broad.mit.edu 37 3 49043169 49043169 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:49043169C>T ENST00000343546.4 + 7 1584 c.1216C>T c.(1216-1218)Cca>Tca p.P406S P4HTM_ENST00000383729.4_Intron NM_177938.2 NP_808807.2 Q9NXG6 P4HTM_HUMAN prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 343 Fe2OG dioxygenase. endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 Vitamin C(DB00126) CTGGGAGCATCCACAACTGGG 0.577000 11 40 0 0 0.000673444 0 0 IL36RN 26525 broad.mit.edu 37 2 113820196 113820196 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:113820196C>T ENST00000393200.2 + 5 571 c.410C>T c.(409-411)cCc>cTc p.P137L IL36RN_ENST00000346807.3_Missense_Mutation_p.P137L NM_012275.2 NP_036407.1 Q9UBH0 I36RA_HUMAN interleukin 36 receptor antagonist 137 extracellular space cytokine activity|interleukin-1 receptor antagonist activity large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 ACCCAGCTTCCCGAGAATGGT 0.627000 7 33 0 0 0.000274275 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6380219 6380219 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:6380219G>A ENST00000335585.5 - 3 272 c.249C>T c.(247-249)ctC>ctT p.L83L PPP2R2C_ENST00000507294.1_Silent_p.L76L|PPP2R2C_ENST00000515571.1_Silent_p.L66L|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Silent_p.L76L|PPP2R2C_ENST00000382599.4_Silent_p.L83L NM_181876.2 NP_870991.1 Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 83 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 CCAGGCTCTTGAGATAGTCAA 0.572000 12 67 0 0 0.00185496 0 0 TTN 7273 broad.mit.edu 37 2 179412371 179412371 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:179412371G>A ENST00000589042.1 - 339 94206 c.93982C>T c.(93982-93984)Ctg>Ttg p.L31328L TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.L28760L|TTN_ENST00000342175.6_Silent_p.L22455L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.L22263L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.L29687L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.L22388L|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29687 Fibronectin type-III 128. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCCCATGACAGGACACACGAT 0.468000 15 105 0 0 0.000422831 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147009297 147009297 + Missense_Mutation SNP G G C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:147009297G>C ENST00000265272.5 - 15 2355 c.1888C>G c.(1888-1890)Cct>Gct p.P630A JAKMIP2_ENST00000333010.6_Missense_Mutation_p.P588A|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.P609A NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 630 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAGATCAGGGATGTTCACA 0.383000 4 59 0 0 0.00024832 0 0 FMO3 2328 broad.mit.edu 37 1 171085366 171085366 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:171085366C>T ENST00000367755.4 + 8 1313 c.1202C>T c.(1201-1203)tCt>tTt p.S401F FMO3_ENST00000392085.2_Missense_Mutation_p.S401F|FMO3_ENST00000538429.1_Missense_Mutation_p.S338F|FMO3_ENST00000542847.1_Missense_Mutation_p.S381F NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 401 PSMEDM -> GPFYGKTL (in Ref. 1; AAA86284). xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ACTTTGCCTTCTATGGAAGAC 0.353000 15 101 0 0 0.00074312 0 0 GAREM 64762 broad.mit.edu 37 18 29850274 29850274 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr18:29850274G>A ENST00000399218.4 - 5 1694 c.1639C>T c.(1639-1641)Ccc>Tcc p.P547S GAREM_ENST00000269209.6_Missense_Mutation_p.P547S NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 GGGATGGAGGGACTGGTGGAC 0.572000 5 21 0 0 0.000602214 0 0 DSTYK 25778 broad.mit.edu 37 1 205156602 205156602 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:205156602C>T ENST00000367162.3 - 2 628 c.598G>A c.(598-600)Gat>Aat p.D200N DSTYK_ENST00000367161.3_Missense_Mutation_p.D200N|DSTYK_ENST00000367160.4_Missense_Mutation_p.D200N NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 200 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 TGAGCAGCATCCTCATTGTTC 0.478000 8 25 0 0 0.000274275 0 0 DAK 26007 broad.mit.edu 37 11 61111710 61111710 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:61111710G>A ENST00000394900.3 + 13 1434 c.1205G>A c.(1204-1206)gGc>gAc p.G402D NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 402 DhaL. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 GCTGGTGACGGCGACTGTGGC 0.622000 16 36 0 0 0.000566183 0 0 LOC440040 440040 broad.mit.edu 37 11 49831850 49831850 + RNA SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:49831850G>A ENST00000527477.1 + 0 2075 ATCCCATAAAGCCCTCTTCCT 0.373000 13 93 0 0 0.00136819 0 0 ST18 9705 broad.mit.edu 37 8 53044549 53044549 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:53044549G>A ENST00000276480.7 - 22 3318 c.2635C>T c.(2635-2637)Cat>Tat p.H879Y NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 879 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TTATTTACATGGCCCAGCCCA 0.488000 10 58 0 0 0.000978159 0 0 RIC3 79608 broad.mit.edu 37 11 8132663 8132663 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:8132663G>A ENST00000396677.2 - 3 205 c.206C>T c.(205-207)cCa>cTa p.P69L RIC3_ENST00000539720.1_Missense_Mutation_p.P182L|RIC3_ENST00000335425.7_Missense_Mutation_p.P49L|RIC3_ENST00000343202.4_Missense_Mutation_p.P230L|RIC3_ENST00000425599.2_Missense_Mutation_p.P150L|RIC3_ENST00000309737.6_Missense_Mutation_p.P231L|RIC3_ENST00000530060.1_5'UTR Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 231 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) GTCATAAATTGGGTAAGTCTC 0.373000 8 58 0 0 0.000157383 0 0 FAT2 2196 broad.mit.edu 37 5 150885198 150885198 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:150885198C>T ENST00000261800.5 - 23 12990 c.12978G>A c.(12976-12978)cgG>cgA p.R4326R NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 4326 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGGGGGCACCCGGGGCTGGC 0.632000 9 27 0 0 0.000673444 0 0 SLC45A4 57210 broad.mit.edu 37 8 142228576 142228576 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:142228576C>T ENST00000519067.1 - 4 1313 c.1010G>A c.(1009-1011)gGc>gAc p.G337D SLC45A4_ENST00000024061.3_Missense_Mutation_p.G337D|SLC45A4_ENST00000433583.2_Missense_Mutation_p.G330D|SLC45A4_ENST00000517878.1_Missense_Mutation_p.G388D Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 388 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TGTGGGGGAGCCACTTCCGTT 0.637000 27 50 0 0 0.00127121 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31142919 31142919 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:31142919C>T ENST00000304166.4 + 14 1404 c.1115C>T c.(1114-1116)tCc>tTc p.S372F ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.S428F|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.S351F|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.S400F NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 372 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 TTTGCCTTCTCCCCAGAGAAT 0.562000 23 71 0 0 0.000586117 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140746136 140746136 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:140746136C>T ENST00000518069.1 + 1 2239 c.2239C>T c.(2239-2241)Cgg>Tgg p.R747W PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 p.R747W(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATGGGGTTCGGGCTTTCCT 0.627000 25 65 0 0 0.000586117 0 0 SETD1A 9739 broad.mit.edu 37 16 30976366 30976366 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr16:30976366C>T ENST00000262519.8 + 7 1989 c.1303C>T c.(1303-1305)Ccg>Tcg p.P435S NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 435 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 GGCTCCACCCCCGGAGCCTCC 0.701000 5 42 0 0 0.00116845 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457763 45457763 + RNA SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:45457763G>A ENST00000548424.1 + 0 448 TTCACCAACAGCCTGGTACAT 0.453000 17 45 0 0 0.000958276 0 0 PLS3 5358 broad.mit.edu 37 X 114879411 114879411 + Missense_Mutation SNP T T A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrX:114879411T>A ENST00000420625.2 + 11 1388 c.1254T>A c.(1252-1254)caT>caA p.H418Q PLS3_ENST00000543070.1_Missense_Mutation_p.H12Q|PLS3_ENST00000539310.1_Missense_Mutation_p.H373Q|PLS3_ENST00000355899.3_Missense_Mutation_p.H418Q|PLS3_ENST00000289290.3_Missense_Mutation_p.H382Q|PLS3_ENST00000537301.1_Missense_Mutation_p.H405Q NM_001136025.3|NM_001172335.1 NP_001129497.1|NP_001165806.1 P13797 PLST_HUMAN plastin 3 418 Actin-binding 2.|CH 3. cytoplasm actin binding|calcium ion binding NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11) 26 ACGTAAACCATCTCTATGCGT 0.348000 8 40 0 0 0.000157383 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33689530 33689530 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:33689530G>A ENST00000321505.4 + 20 5560 c.5380G>A c.(5380-5382)Gag>Aag p.E1794K KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E1800K|RP4-541C22.5_ENST00000534431.1_RNA KIAA1549-like CCCCAGCCTGGAGCAGGCCCC 0.667000 6 21 0 0 0.000442599 0 0 MUC16 94025 broad.mit.edu 37 19 9062585 9062585 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:9062585C>T ENST00000397910.4 - 3 25064 c.24861G>A c.(24859-24861)gaG>gaA p.E8287E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8289 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAGGGAAATCCTCTACTAATG 0.522000 9 38 0 0 0.000673444 0 0 ZG16B 124220 broad.mit.edu 37 16 2882097 2882097 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr16:2882097G>A ENST00000382280.3 + 4 643 c.564G>A c.(562-564)gaG>gaA p.E188E ZG16B_ENST00000572863.1_Silent_p.E158E NM_145252.2 NP_660295.2 Q96DA0 ZG16B_HUMAN zymogen granule protein 16B 188 extracellular region sugar binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 ATCCACTAGAGGAGCCGACCA 0.562000 12 90 0 0 0.000978159 0 0 PLCL2 23228 broad.mit.edu 37 3 17109538 17109538 + Nonsense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:17109538G>A ENST00000418129.2 + 5 3272 c.2807G>A c.(2806-2808)tGg>tAg p.W936* PLCL2_ENST00000432376.1_Nonsense_Mutation_p.W936*|PLCL2_ENST00000396755.2_Nonsense_Mutation_p.W936* NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 1062 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 AGCTTTACCTGGAATATTACC 0.403000 15 72 0 0 0.000958276 0 0 DNAH5 1767 broad.mit.edu 37 5 13900349 13900349 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:13900349C>T ENST00000265104.4 - 15 2329 c.2225G>A c.(2224-2226)cGa>cAa p.R742Q NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 742 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTATCTATCTCGTTTCTGGAA 0.388000 Kartagener syndrome 12 59 0 0 0.00136819 0 0 TNN 63923 broad.mit.edu 37 1 175097807 175097807 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:175097807C>T ENST00000239462.4 + 15 3368 c.3255C>T c.(3253-3255)acC>acT p.T1085T NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1085 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GTCTGTACACCATCTACCTGC 0.597000 15 52 0 0 0.000566183 0 0 KCNJ8 3764 broad.mit.edu 37 12 21918713 21918713 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:21918713C>T ENST00000240662.2 - 3 1564 c.1219G>A c.(1219-1221)Gta>Ata p.V407I RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 407 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) ACCTTTGGTACCATGAGGGAA 0.408000 12 72 0 0 0.000219431 0 0 OPTC 26254 broad.mit.edu 37 1 203472079 203472079 + Missense_Mutation SNP A A G TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:203472079A>G ENST00000367222.2 + 6 886 c.770A>G c.(769-771)aAc>aGc p.N257S NM_014359.3 NP_055174.1 Q9UBM4 OPT_HUMAN opticin 257 proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.109) CTGTCAGACAACCTGCTGGAT 0.572000 11 53 0 0 0.00185496 0 0 CSH2 1443 broad.mit.edu 37 17 61950618 61950618 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:61950618G>A ENST00000336844.5 - 2 243 c.92C>T c.(91-93)cCg>cTg p.P31L CSH2_ENST00000560142.1_Intron|CSH2_ENST00000392886.2_Missense_Mutation_p.P31L|CSH2_ENST00000345366.7_Missense_Mutation_p.P31L NM_022644.3 NP_072170.1 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 31 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding endometrium(2)|large_intestine(1)|lung(3) 6 CCTGGATAACGGAACGGTTTG 0.602000 29 124 0 0 0.00106085 0 0 DLX4 1748 broad.mit.edu 37 17 48051150 48051150 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:48051150G>A ENST00000240306.3 + 3 861 c.566G>A c.(565-567)gGg>gAg p.G189E DLX4_ENST00000411890.2_Missense_Mutation_p.G117E NM_138281.2 NP_612138.1 Q92988 DLX4_HUMAN distal-less homeobox 4 189 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3) 10 GACTTCCCTGGGAGGACCTTC 0.562000 17 60 0 0 0.000422831 0 0 RAPH1 65059 broad.mit.edu 37 2 204305977 204305977 + Missense_Mutation SNP G G C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:204305977G>C ENST00000319170.5 - 14 2235 c.1936C>G c.(1936-1938)Cct>Gct p.P646A RAPH1_ENST00000374493.3_Missense_Mutation_p.P698A|RAPH1_ENST00000457812.1_Intron NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 646 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 agtgggggaggagggggtggt 0.602000 3 16 0 0 0.000602214 0 0 DZIP1L 199221 broad.mit.edu 37 3 137787164 137787164 + Missense_Mutation SNP T T C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:137787164T>C ENST00000327532.2 - 13 2023 c.1661A>G c.(1660-1662)aAg>aGg p.K554R DZIP1L_ENST00000488595.1_5'UTR NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 554 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 GGTCCTGGTCTTTGGCTGGGC 0.587000 OREG0015830 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 284 0 0 0.000781405 0 0 AXDND1 126859 broad.mit.edu 37 1 179497515 179497515 + Missense_Mutation SNP T T G TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:179497515T>G ENST00000367618.3 + 23 3051 c.2664T>G c.(2662-2664)gaT>gaG p.D888E NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 888 Glu-rich. NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 TTGGAGAAGATGAAAATGTTC 0.403000 4 37 0 0 0.00116845 0 0 CHST1 8534 broad.mit.edu 37 11 45672376 45672376 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:45672376G>A ENST00000308064.2 - 4 768 c.98C>T c.(97-99)aCc>aTc p.T33I NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 33 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) CCCGGGGCAGGTGTGAAAGGA 0.647000 16 80 0 0 0.000566183 0 0 NLRP10 338322 broad.mit.edu 37 11 7981739 7981739 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:7981739G>A ENST00000328600.2 - 2 1581 c.1420C>T c.(1420-1422)Cat>Tat p.H474Y NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 474 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GACATGGCATGAAAAAAGTCC 0.532000 23 96 0 0 0.000720815 0 0 CYP7B1 9420 broad.mit.edu 37 8 65537045 65537045 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:65537045C>T ENST00000310193.3 - 2 347 c.174G>A c.(172-174)gtG>gtA p.V58V NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 58 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity p.V58V(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AGTTCAGGACCACTCCAAGAT 0.383000 44 129 0 0 0.000781405 0 0 LGI3 203190 broad.mit.edu 37 8 22009377 22009377 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:22009377G>A ENST00000306317.2 - 6 920 c.631C>T c.(631-633)Ctg>Ttg p.L211L LGI3_ENST00000424267.2_Silent_p.L187L NM_139278.2 NP_644807.1 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 211 LRRCT. exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 17 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) CGCAGCGGCAGGTCCTGCACC 0.627000 9 64 0 0 0.000442599 0 0 VAV1 7409 broad.mit.edu 37 19 6854016 6854016 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:6854016C>T ENST00000304076.2 + 25 2419 c.2325C>T c.(2323-2325)gaC>gaT p.D775D VAV1_ENST00000599806.1_Silent_p.D742D|VAV1_ENST00000602142.1_Silent_p.D797D|VAV1_ENST00000596764.1_Silent_p.D765D|VAV1_ENST00000539284.1_Silent_p.D700D NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 797 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GCGCCCGAGACCGATCAGAGC 0.552000 10 60 0 0 0.00136819 0 0 GSAP 54103 broad.mit.edu 37 7 76984542 76984542 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:76984542G>A ENST00000257626.7 - 16 1404 c.1326C>T c.(1324-1326)ttC>ttT p.F442F NM_017439.3 NP_059135.2 gamma-secretase activating protein GGGCTTCCAGGAACTGCGCAC 0.458000 8 42 0 0 0.000442599 0 0 ARHGEF35 445328 broad.mit.edu 37 7 143884125 143884125 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:143884125G>A ENST00000378115.2 - 2 1481 c.1352C>T c.(1351-1353)cCc>cTc p.P451L ARHGEF35_ENST00000543357.1_Missense_Mutation_p.P451L NM_001003702.2 NP_001003702.2 A5YM69 ARG35_HUMAN Rho guanine nucleotide exchange factor (GEF) 35 451 kidney(1)|large_intestine(1)|lung(3)|stomach(1) 6 CTCTAGCAAGGGAGACAGAGC 0.527000 5 26 0 0 0.000157383 0 0 OR10T2 128360 broad.mit.edu 37 1 158369215 158369215 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:158369215G>A ENST00000334438.1 - 1 41 c.42C>T c.(40-42)atC>atT p.I14I NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) AACCCACCAGGATGAACTGTG 0.438000 6 39 0 0 0.000274275 0 0 CUBN 8029 broad.mit.edu 37 10 17087008 17087008 + Missense_Mutation SNP C C A rs45588636 TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:17087008C>A ENST00000377833.4 - 25 3735 c.3670G>T c.(3670-3672)Gct>Tct p.A1224S NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1224 CUB 7. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATACATACAGCCAGGTAATCT 0.428000 8 62 6.42651e-13 4.07136e-12 0.000978159 1 0 OGFRL1 79627 broad.mit.edu 37 6 72011392 72011392 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:72011392C>T ENST00000370435.4 + 7 1130 c.996C>T c.(994-996)ctC>ctT p.L332L RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000587253.1_RNA NM_024576.3 NP_078852.3 Q5TC84 OGRL1_HUMAN opioid growth factor receptor-like 1 332 membrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1) 13 CTTCCCCTCTCGCCTCCAGTC 0.463000 16 38 0 0 0.000566183 0 0 KRBA2 124751 broad.mit.edu 37 17 8273657 8273657 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:8273657G>A ENST00000396267.1 - 2 859 c.28C>T c.(28-30)Cca>Tca p.P10S KRBA2_ENST00000331336.2_Missense_Mutation_p.P92S|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000583963.1_RNA Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 92 DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1) 18 ACCCCAGGTGGATCATTTCCA 0.388000 14 81 0 0 0.000219431 0 0 DZIP1L 199221 broad.mit.edu 37 3 137787163 137787163 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:137787163C>T ENST00000327532.2 - 13 2024 c.1662G>A c.(1660-1662)aaG>aaA p.K554K DZIP1L_ENST00000488595.1_5'UTR NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 554 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 GGGTCCTGGTCTTTGGCTGGG 0.582000 OREG0015830 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 289 0 0 0.000781405 0 0 HTR6 3362 broad.mit.edu 37 1 19992783 19992783 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:19992783G>A ENST00000289753.1 + 1 1004 c.537G>A c.(535-537)caG>caA p.Q179Q NM_000871.1 NP_000862.1 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled 179 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) TCCCTGGCCAGTGCCGCCTGC 0.687000 23 42 0 0 0.00047179 0 0 FRMPD2 143162 broad.mit.edu 37 10 49393605 49393605 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:49393605G>A ENST00000374201.3 - 18 2652 c.2350C>T c.(2350-2352)Cgt>Tgt p.R784C FRMPD2_ENST00000407470.4_Missense_Mutation_p.R752C|FRMPD2_ENST00000305531.3_Missense_Mutation_p.R759C NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 784 PDZ 1. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding p.R784C(1) NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) CCAAAACCACGATGTGGGTCA 0.502000 20 52 0 0 0.00047179 0 0 AKR1C3 8644 broad.mit.edu 37 10 5144346 5144346 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:5144346G>A ENST00000380554.3 + 6 1276 c.624G>A c.(622-624)tcG>tcA p.S208S AKR1C3_ENST00000439082.2_Silent_p.S89S|AKR1C3_ENST00000605149.1_Silent_p.S185S NM_001253908.1|NM_003739.5 NP_001240837.1|NP_003730.4 P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 208 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity p.S208S(1) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) TCTGCAAGTCGAAAGATATTG 0.373000 14 60 0 0 0.000422831 0 0 GNG4 2786 broad.mit.edu 37 1 235715522 235715522 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:235715522C>T ENST00000391854.2 - 4 568 c.115G>A c.(115-117)Gcg>Acg p.A39T GNG4_ENST00000366597.1_Missense_Mutation_p.A39T|GNG4_ENST00000484517.1_5'UTR|GNG4_ENST00000450593.1_Missense_Mutation_p.A39T|GNG4_ENST00000366598.4_Missense_Mutation_p.A39T NM_001098722.1|NM_004485.3 NP_001092192.1|NP_004476.1 P50150 GBG4_HUMAN guanine nucleotide binding protein (G protein), gamma 4 39 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex signal transducer activity NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.000882) AGGAGGTCCGCAGCTGCCTGG 0.562000 7 42 0 0 0.000157383 0 0 ELK4 2005 broad.mit.edu 37 1 205585768 205585768 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:205585768G>A ENST00000357992.4 - 5 1541 c.1202C>T c.(1201-1203)cCt>cTt p.P401L NM_001973.3 NP_001964.2 ELK4, ETS-domain protein (SRF accessory protein 1) SLC45A3/ELK4(18) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 12 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CAGTACAGAAGGAAACTGAGA 0.443000 T SLC45A3 prostate 8 28 0 0 0.000157383 0 0 TELO2 9894 broad.mit.edu 37 16 1552363 1552363 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr16:1552363C>T ENST00000262319.6 + 13 1890 c.1611C>T c.(1609-1611)gcC>gcT p.A537A TELO2_ENST00000564507.1_3'UTR NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 537 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) CCCTGCGGGCCCTTGAGGGCC 0.667000 6 11 0 0 0.000157383 0 0 ZFHX4 79776 broad.mit.edu 37 8 77775475 77775475 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:77775475C>T ENST00000521891.2 + 11 9973 c.9525C>T c.(9523-9525)tcC>tcT p.S3175S ZFHX4_ENST00000455469.2_Silent_p.S3130S|ZFHX4_ENST00000050961.6_Silent_p.S3126S|ZFHX4_ENST00000518282.1_Silent_p.S3149S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3126 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ctccttcatcctcTCTGTCAG 0.507000 HNSCC(33;0.089) 3 4 0 0 6.4e-05 0 0 IL36RN 26525 broad.mit.edu 37 2 113820197 113820197 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:113820197C>T ENST00000393200.2 + 5 572 c.411C>T c.(409-411)ccC>ccT p.P137P IL36RN_ENST00000346807.3_Silent_p.P137P NM_012275.2 NP_036407.1 Q9UBH0 I36RA_HUMAN interleukin 36 receptor antagonist 137 extracellular space cytokine activity|interleukin-1 receptor antagonist activity large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 CCCAGCTTCCCGAGAATGGTG 0.627000 6 33 0 0 0.000157383 0 0 ZNF71 58491 broad.mit.edu 37 19 57132753 57132753 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:57132753C>T ENST00000328070.6 + 3 332 c.98C>T c.(97-99)cCt>cTt p.P33L NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 33 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GCCAGGGGTCCTGGCTCAGAA 0.587000 7 27 0 0 8.12818e-05 0 0 CCR4 1233 broad.mit.edu 37 3 32995815 32995815 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:32995815C>T ENST00000330953.5 + 2 1069 c.901C>T c.(901-903)Ccc>Tcc p.P301S NM_005508.4 NP_005499.1 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 301 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane p.P301T(1) NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 CTGCCTTAATCCCATCATCTA 0.478000 9 60 0 0 0.000673444 0 0 AOAH 313 broad.mit.edu 37 7 36657927 36657927 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:36657927G>A ENST00000431169.1 - 10 1027 c.727C>T c.(727-729)Cca>Tca p.P243S AOAH_ENST00000258749.5_Missense_Mutation_p.P243S|AOAH_ENST00000535891.1_Missense_Mutation_p.P211S NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 243 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 TTCTCATATGGAACTCCATCT 0.323000 13 64 0 0 0.000422831 0 0 PDE7B 27115 broad.mit.edu 37 6 136429884 136429884 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:136429884G>A ENST00000308191.6 + 3 401 c.98G>A c.(97-99)aGg>aAg p.R33K RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 33 signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) ATACGACTAAGGGGTCAGACG 0.453000 18 61 0 0 0.00188189 0 0 RDH8 50700 broad.mit.edu 37 19 10124157 10124157 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:10124157C>T ENST00000591589.1 + 1 233 c.44C>T c.(43-45)tCc>tTc p.S15F RDH8_ENST00000171214.1_5'UTR Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 0 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) GGTCACGAGTCCAGGGAGGGG 0.612000 7 38 0 0 0.000274275 0 0 ABCA5 23461 broad.mit.edu 37 17 67298924 67298924 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:67298924G>A ENST00000392676.3 - 8 1118 c.1054C>T c.(1054-1056)Ccc>Tcc p.P352S ABCA5_ENST00000392677.2_Missense_Mutation_p.P352S|ABCA5_ENST00000588877.1_Missense_Mutation_p.P352S Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 352 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) AACGATTTGGGAAAACTTTCT 0.323000 7 73 0 0 0.000274275 0 0 SEMA3E 9723 broad.mit.edu 37 7 83025989 83025989 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:83025989C>T ENST00000307792.3 - 12 1890 c.1423G>A c.(1423-1425)Gaa>Aaa p.E475K SEMA3E_ENST00000427262.1_Missense_Mutation_p.E415K NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 475 Sema. axon guidance extracellular space|membrane receptor activity p.E475*(1) breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) ATTACTTCTTCCATTGATTCC 0.289000 5 38 0 0 0.00116845 0 0 CNTN4 152330 broad.mit.edu 37 3 2928779 2928779 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:2928779G>A ENST00000397461.1 + 9 1195 c.811G>A c.(811-813)Gcc>Acc p.A271T CNTN4_ENST00000358480.3_Missense_Mutation_p.A52T|CNTN4_ENST00000418658.1_Missense_Mutation_p.A271T|CNTN4_ENST00000427331.1_Missense_Mutation_p.A271T NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 271 Ig-like C2-type 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AGCAAGGAAAGCCAGAAGACA 0.393000 6 23 0 0 0.00116845 0 0 PCDH15 65217 broad.mit.edu 37 10 55600205 55600205 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:55600205C>T ENST00000373965.2 - 30 4273 c.3879G>A c.(3877-3879)gtG>gtA p.V1293V PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Silent_p.V1264V|PCDH15_ENST00000395432.2_Silent_p.V1249V|PCDH15_ENST00000320301.6_Silent_p.V1286V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Silent_p.V1215V|PCDH15_ENST00000361849.3_Silent_p.V1286V|PCDH15_ENST00000409834.1_Silent_p.V897V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Silent_p.V1291V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Silent_p.V1286V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Silent_p.V1286V|PCDH15_ENST00000395445.1_Silent_p.V1293V NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1286 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CAATGGACTCCACTACGACCT 0.463000 HNSCC(58;0.16) 8 41 0 0 0.000673444 0 0 COL4A1 1282 broad.mit.edu 37 13 110850885 110850885 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr13:110850885C>T ENST00000375820.4 - 21 1335 c.1214G>A c.(1213-1215)gGa>gAa p.G405E COL4A1_ENST00000543140.1_Missense_Mutation_p.G405E NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 405 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) TCCACTTGGTCCTGGCAGAGA 0.592000 14 50 0 0 0.000566183 0 0 SLC29A2 3177 broad.mit.edu 37 11 66138781 66138781 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:66138781C>T ENST00000357440.2 - 2 273 c.45G>A c.(43-45)ggG>ggA p.G15G SLC29A2_ENST00000546034.1_Silent_p.G15G|SLC29A2_ENST00000544554.1_Silent_p.G15G|SLC29A2_ENST00000311161.7_Silent_p.G15G NM_001532.2 NP_001523.2 Q14542 S29A2_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 2 15 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 AGAAGCTGATCCCGACCAGGT 0.697000 14 30 0 0 0.00074312 0 0 OTOP1 133060 broad.mit.edu 37 4 4199349 4199349 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:4199349G>A ENST00000296358.4 - 5 1236 c.1212C>T c.(1210-1212)atC>atT p.I404I NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 404 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGCCCCAGGAGATAAGCCAGG 0.577000 11 46 0 0 0.00136819 0 0 SNX11 29916 broad.mit.edu 37 17 46196339 46196339 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:46196339C>T ENST00000393405.2 + 7 684 c.330C>T c.(328-330)gtC>gtT p.V110V SNX11_ENST00000452859.2_5'UTR|SNX11_ENST00000439357.2_Silent_p.V49V|SNX11_ENST00000580219.1_Silent_p.V102V|SNX11_ENST00000582104.1_Silent_p.V102V|SNX11_ENST00000359238.2_Silent_p.V110V|SNX11_ENST00000578861.1_3'UTR NM_152244.1 NP_689450.1 Q9Y5W9 SNX11_HUMAN sorting nexin 11 110 PX. cell communication|protein transport membrane phosphatidylinositol binding breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 14 TTCCCAGGGTCCTGCAGAGTG 0.542000 16 78 0 0 0.000566183 0 0 KIAA1462 57608 broad.mit.edu 37 10 30336619 30336619 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:30336619C>T ENST00000375377.1 - 2 224 c.123G>A c.(121-123)caG>caA p.Q41Q NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 41 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TCTGCAGGCCCTGGCCTGCTC 0.632000 7 39 0 0 0.000157383 0 0 OR4X2 119764 broad.mit.edu 37 11 48267519 48267519 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:48267519G>A ENST00000302329.3 + 1 912 c.864G>A c.(862-864)aaG>aaA p.K288K NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 AAATGAGGAAGGCCATGAAGA 0.443000 14 93 0 0 0.000422831 0 0 PDS5B 23047 broad.mit.edu 37 13 33270999 33270999 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr13:33270999C>T ENST00000315596.10 + 15 1746 c.1560C>T c.(1558-1560)gcC>gcT p.A520A NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 520 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) AGACAGATGCCAGTGTCAAGG 0.264000 35 113 0 0 0.000437636 0 0 C11orf82 220042 broad.mit.edu 37 11 82641291 82641291 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:82641291G>A ENST00000533655.1 + 5 580 c.368G>A c.(367-369)gGa>gAa p.G123E C11orf82_ENST00000430323.2_Missense_Mutation_p.G123E|C11orf82_ENST00000525361.1_Missense_Mutation_p.G123E|C11orf82_ENST00000329143.3_Intron|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000524921.1_Intron|C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000525388.1_Intron NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 123 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 TGCTTTGTTGGACAAAGCTTT 0.303000 7 53 0 0 0.000442599 0 0 GBP4 115361 broad.mit.edu 37 1 89658754 89658754 + Missense_Mutation SNP C C A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:89658754C>A ENST00000355754.6 - 5 600 c.503G>T c.(502-504)aGg>aTg p.R168M NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 168 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) GGATTTTGCCCTGATTAGCTC 0.463000 13 74 6.72482e-11 4.24807e-10 0.000308642 1 0 EP400 57634 broad.mit.edu 37 12 132490709 132490709 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:132490709C>T ENST00000333577.4 + 15 3205 c.3096C>T c.(3094-3096)atC>atT p.I1032I EP400_ENST00000389562.2_Silent_p.I995I|EP400_ENST00000332482.4_Silent_p.I959I|EP400_ENST00000330386.6_Silent_p.I996I|EP400_ENST00000389561.2_Silent_p.I996I Q96L91 EP400_HUMAN E1A binding protein p400 1032 Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TGGTTCTCATCGACTCGCTTT 0.512000 7 35 0 0 0.000157383 0 0 CASP7 840 broad.mit.edu 37 10 115485222 115485222 + Missense_Mutation SNP A A G TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:115485222A>G ENST00000369321.2 + 6 897 c.577A>G c.(577-579)Aag>Gag p.K193E CASP7_ENST00000369331.4_Intron|CASP7_ENST00000452490.2_Missense_Mutation_p.K135E|CASP7_ENST00000345633.4_Missense_Mutation_p.K160E|CASP7_ENST00000369318.3_Missense_Mutation_p.K160E|CASP7_ENST00000369315.1_Missense_Mutation_p.K160E NM_033338.5 NP_203124.1 P55210 CASP7_HUMAN caspase 7, apoptosis-related cysteine peptidase 160 activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm cysteine-type endopeptidase activity|protein binding kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) CACACCAATAAAGGATTTGAC 0.423000 7 50 0 0 0.000157383 0 0 LOC101927755 101927755 broad.mit.edu 37 17 58053397 58053397 + RNA SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:58053397C>T ENST00000586209.1 + 0 158 GTTTAAGCTTCCTGATTAGTT 0.388000 13 90 0 0 0.000566183 0 0 JMJD1C 221037 broad.mit.edu 37 10 65140161 65140161 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:65140161C>T ENST00000399262.2 - 2 468 c.250G>A c.(250-252)Gaa>Aaa p.E84K JMJD1C_ENST00000399251.1_5'UTR NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 84 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) AAGTGGTATTCCACCAAGAAA 0.393000 10 64 0 0 0.000673444 0 0 TOMM70A 9868 broad.mit.edu 37 3 100086908 100086908 + Missense_Mutation SNP C C A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:100086908C>A ENST00000284320.5 - 11 2101 c.1653G>T c.(1651-1653)atG>atT p.M551I NM_014820.4 NP_055635.3 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) 551 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 32 CAATAGTTCCCATGGTTTCAT 0.343000 10 50 3.07112e-06 1.93168e-05 0.000978159 1 0 UVSSA 57654 broad.mit.edu 37 4 1343498 1343498 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:1343498C>T ENST00000389851.4 + 3 732 c.285C>T c.(283-285)ccC>ccT p.P95P UVSSA_ENST00000507531.1_Silent_p.P95P|UVSSA_ENST00000511216.1_Silent_p.P95P NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 95 GCACAGACCCCGCACAGCCTC 0.627000 5 28 0 0 8.12818e-05 0 0 CLRN2 645104 broad.mit.edu 37 4 17524602 17524602 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:17524602G>A ENST00000511148.2 + 2 471 c.369G>A c.(367-369)atG>atA p.M123I NM_001079827.2 NP_001073296.1 A0PK11 CLRN2_HUMAN clarin 2 123 integral to membrane p.M140I(1) breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1) 15 TTCTTAACATGATCCAGGTCC 0.552000 8 42 0 0 0.000274275 0 0 USP40 55230 broad.mit.edu 37 2 234386140 234386140 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:234386140G>A ENST00000251722.6 - 32 3723 c.3606C>T c.(3604-3606)gcC>gcT p.A1202A USP40_ENST00000427112.2_Silent_p.A1202A|USP40_ENST00000450966.1_Silent_p.A1214A Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 1202 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) GCTCATGGAGGGCTTCTTGGC 0.562000 6 25 0 0 8.12818e-05 0 0 KNSTRN 90417 broad.mit.edu 37 15 40675132 40675132 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr15:40675132G>A ENST00000416151.2 + 1 211 c.96G>A c.(94-96)cgG>cgA p.R32R KNSTRN_ENST00000448395.2_Silent_p.R32R|KNSTRN_ENST00000249776.8_Silent_p.R32R NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein CTAGCTACCGGAAGTTTCTAT 0.577000 13 45 0 0 0.00185496 0 0 ABCC9 10060 broad.mit.edu 37 12 22005125 22005125 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:22005125C>T ENST00000261200.4 - 22 2674 c.2675G>A c.(2674-2676)aGa>aAa p.R892K ABCC9_ENST00000261201.4_Missense_Mutation_p.R892K|ABCC9_ENST00000345162.2_Missense_Mutation_p.R856K|RP11-729I10.2_ENST00000539874.1_RNA NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 892 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGTTCCTTCTCTTAGGACACT 0.368000 5 41 0 0 0.000602214 0 0 CRP 1401 broad.mit.edu 37 1 159683778 159683778 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:159683778G>A ENST00000255030.5 - 2 315 c.212C>T c.(211-213)tCg>tTg p.S71L CRP_ENST00000437342.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000368112.1_Intron|CRP_ENST00000368111.1_Intron NM_000567.2 NP_000558.2 P02741 CRP_HUMAN C-reactive protein, pentraxin-related 71 Pentaxin. YSIFSYATKRQDNEIL -> TVFSRMPPRDKTMRFF (in Ref. 4; CAA39671). acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) GGTGGCATACGAGAAAATACT 0.448000 16 53 0 0 0.000422831 0 0 SPAG17 200162 broad.mit.edu 37 1 118567963 118567963 + Nonsense_Mutation SNP A A C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:118567963A>C ENST00000336338.5 - 27 3872 c.3807T>G c.(3805-3807)taT>taG p.Y1269* NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1269 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TATAGAACTCATAGTGCTTCA 0.463000 25 49 0 0 0.000586117 0 0 CYP2C9 1559 broad.mit.edu 37 10 96731971 96731971 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:96731971C>T ENST00000260682.6 + 6 942 c.930C>T c.(928-930)ctC>ctT p.L310L NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 310 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GATATGCTCTCCTTCTCCTGC 0.433000 14 108 0 0 0.000219431 0 0 WDR33 55339 broad.mit.edu 37 2 128477301 128477301 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:128477301C>T ENST00000322313.4 - 16 2456 c.2298G>A c.(2296-2298)ggG>ggA p.G766G NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 766 Collagen-like. postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GACCTTGGATCCCTTGAGACC 0.617000 6 36 0 0 8.12818e-05 0 0 IGHG4 3503 broad.mit.edu 37 14 106091525 106091525 + RNA SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr14:106091525G>A ENST00000390543.2 - 0 368 GTTTTGGGGGGAACAGGAAGA 0.617000 9 46 0 0 0.000978159 0 0 DNAH5 1767 broad.mit.edu 37 5 13714522 13714522 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:13714522G>A ENST00000265104.4 - 75 13221 c.13117C>T c.(13117-13119)Ccc>Tcc p.P4373S NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4373 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ACTTCAAAGGGGACATAGTCT 0.537000 Kartagener syndrome 11 88 0 0 0.00136819 0 0 STC1 6781 broad.mit.edu 37 8 23708886 23708886 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:23708886C>T ENST00000290271.2 - 3 703 c.420G>A c.(418-420)cgG>cgA p.R140R STC1_ENST00000524323.1_Silent_p.R71R NM_003155.2 NP_003146.1 P52823 STC1_HUMAN stanniocalcin 1 140 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) CTTCAGGGTTCCGCTTGGCGA 0.527000 43 117 0 0 0.000781405 0 0 CD300E 342510 broad.mit.edu 37 17 72608888 72608888 + Silent SNP G G A rs145226937 TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr17:72608888G>A ENST00000392619.1 - 4 638 c.603C>T c.(601-603)ttC>ttT p.F201F CD300E_ENST00000426295.2_Silent_p.F215F|CD300E_ENST00000328630.3_Silent_p.F174F NM_181449.2 NP_852114.2 Q496F6 CLM2_HUMAN CD300e molecule 174 integral to membrane|plasma membrane receptor activity p.F174F(1) breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 CCACGAGCAGGAAGTGAGGGC 0.612000 11 91 0 0 0.00185496 0 0 SPATA25 128497 broad.mit.edu 37 20 44515166 44515166 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr20:44515166G>A ENST00000372519.3 - 2 718 c.674C>T c.(673-675)tCc>tTc p.S225F NM_080608.3 NP_542175.1 Q9BR10 CT165_HUMAN spermatogenesis associated 25 225 integral to membrane CTACAAGCAGGAGCCAGGAGG 0.592000 21 137 0 0 0.00047179 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572250 140572250 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:140572250G>A ENST00000239446.4 + 1 309 c.125G>A c.(124-126)gGa>gAa p.G42E NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 42 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAGAGAAAGGATCCTTTGTG 0.493000 36 56 0 0 0.000437636 0 0 STK36 27148 broad.mit.edu 37 2 219558012 219558012 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:219558012G>A ENST00000295709.3 + 17 2372 c.2093G>A c.(2092-2094)aGg>aAg p.R698K STK36_ENST00000440309.1_Missense_Mutation_p.R698K|STK36_ENST00000392106.2_Missense_Mutation_p.R698K|STK36_ENST00000392105.3_Missense_Mutation_p.R698K NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 698 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) AGCCAGCTCAGGCCATCCCTC 0.483000 7 46 0 0 8.12818e-05 0 0 ELFN2 114794 broad.mit.edu 37 22 37770744 37770744 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr22:37770744G>A ENST00000402918.1 - 3 1616 c.831C>T c.(829-831)ccC>ccT p.P277P RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Silent_p.P277P NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 277 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) GGATCTCGTCGGGGTTGAAGC 0.692000 16 33 0 0 0.000308642 0 0 TSC2 7249 broad.mit.edu 37 16 2105449 2105449 + Silent SNP C C T rs137854207 TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr16:2105449C>T ENST00000219476.3 + 6 1158 c.528C>T c.(526-528)ttC>ttT p.F176F TSC2_ENST00000568454.1_Silent_p.F187F|TSC2_ENST00000439673.2_Silent_p.F139F|TSC2_ENST00000350773.4_Silent_p.F176F|TSC2_ENST00000382538.6_Silent_p.F127F|TSC2_ENST00000401874.2_Silent_p.F176F|TSC2_ENST00000353929.4_Silent_p.F176F NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 176 Required for interaction with TSC1. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CCTCGGAATTCCTTCTGGTGC 0.502000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 48 122 0 0 0.000781405 0 0 ALPK2 115701 broad.mit.edu 37 18 56203815 56203815 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr18:56203815C>T ENST00000361673.3 - 5 3817 c.3604G>A c.(3604-3606)Gaa>Aaa p.E1202K RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1202 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CTGTCTTCTTCCCCAGCAGTT 0.557000 22 77 0 0 0.000295444 0 0 ZP3 7784 broad.mit.edu 37 7 76062930 76062930 + Missense_Mutation SNP G G C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr7:76062930G>C ENST00000416245.1 + 3 1244 c.151G>C c.(151-153)Gcc>Ccc p.A51P ZP3_ENST00000394857.3_Missense_Mutation_p.A227P|ZP3_ENST00000336517.4_Missense_Mutation_p.A176P P21754 ZP3_HUMAN zona pellucida glycoprotein 3 (sperm receptor) 227 ZP. binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 AGACCAGAATGCCTCCCCTTA 0.577000 10 65 0 0 0.00136819 0 0 TLR2 7097 broad.mit.edu 37 4 154625875 154625875 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:154625875G>A ENST00000260010.6 + 1 3224 c.1816G>A c.(1816-1818)Ggg>Agg p.G606R NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 606 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) CCTGCTCACGGGGGTCCTGTG 0.577000 8 21 0 0 0.000274275 0 0 QSOX1 5768 broad.mit.edu 37 1 180158704 180158704 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:180158704C>T ENST00000367602.3 + 9 1109 c.1035C>T c.(1033-1035)ccC>ccT p.P345P QSOX1_ENST00000367600.5_Silent_p.P345P O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 345 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 CTGGCCGGCCCTTAGTCCAGA 0.502000 15 93 0 0 0.00121646 0 0 EPS8L1 54869 broad.mit.edu 37 19 55594893 55594893 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:55594893C>T ENST00000586329.1 + 10 1486 c.1308C>T c.(1306-1308)acC>acT p.T436T EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000588359.1_Silent_p.T108T|EPS8L1_ENST00000201647.6_Intron|EPS8L1_ENST00000592824.1_Intron|EPS8L1_ENST00000245618.5_Intron Q8TE68 ES8L1_HUMAN EPS8-like 1 452 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GGCAGGTGACCCAAGCGACAC 0.706000 4 11 0 0 0.00116845 0 0 TDRD1 56165 broad.mit.edu 37 10 115985825 115985825 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:115985825C>T ENST00000251864.2 + 22 3178 c.3025C>T c.(3025-3027)Cgt>Tgt p.R1009C TDRD1_ENST00000422662.1_Missense_Mutation_p.R613C|TDRD1_ENST00000369281.2_Missense_Mutation_p.R895C|TDRD1_ENST00000369280.1_Missense_Mutation_p.R1009C|TDRD1_ENST00000369282.1_Missense_Mutation_p.R1009C NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 1009 Tudor 4. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TTTTTGGTATCGTGCAGTTGT 0.403000 12 69 0 0 0.000422831 0 0 RTTN 25914 broad.mit.edu 37 18 67836153 67836153 + Missense_Mutation SNP T T A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr18:67836153T>A ENST00000255674.6 - 12 1913 c.1627A>T c.(1627-1629)Act>Tct p.T543S RTTN_ENST00000437017.1_Missense_Mutation_p.T543S|RTTN_ENST00000454359.1_Missense_Mutation_p.T543S NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 543 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GCCTCTGCAGTTCGTTTATAA 0.348000 23 101 0 0 0.00047179 0 0 BCMO1 53630 broad.mit.edu 37 16 81303860 81303860 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr16:81303860G>A ENST00000258168.2 + 7 1401 c.940G>A c.(940-942)Gaa>Aaa p.E314K BCMO1_ENST00000425577.2_Missense_Mutation_p.E245K NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 314 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 CAACGCCTACGAAGAGGACGG 0.522000 14 65 0 0 0.00185496 0 0 CUBN 8029 broad.mit.edu 37 10 16911830 16911830 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:16911830G>A ENST00000377833.4 - 59 9324 c.9259C>T c.(9259-9261)Ccc>Tcc p.P3087S NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3087 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAGGTGGAGGGAACCACATCA 0.438000 6 35 0 0 0.00116845 0 0 AFM 173 broad.mit.edu 37 4 74364883 74364883 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:74364883G>A ENST00000226355.3 + 11 1435 c.1342G>A c.(1342-1344)Gtg>Atg p.V448M NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 448 Albumin 3. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGAAGAACTGGTGTCTCTTGG 0.453000 8 50 0 0 0.000274275 0 0 LIFR 3977 broad.mit.edu 37 5 38502883 38502883 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:38502883C>T ENST00000263409.4 - 11 1618 c.1456G>A c.(1456-1458)Gga>Aga p.G486R LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.G486R NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 486 Fibronectin type-III 3. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TTTTCTACTCCTTTGATTGTG 0.284000 T PLAG1 salivary adenoma 11 31 0 0 0.000673444 0 0 FN1 2335 broad.mit.edu 37 2 216263996 216263996 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:216263996G>A ENST00000354785.4 - 21 3701 c.3332C>T c.(3331-3333)cCa>cTa p.P1111L FN1_ENST00000359671.1_Missense_Mutation_p.P1111L|FN1_ENST00000446046.1_Missense_Mutation_p.P1111L|FN1_ENST00000432072.2_Missense_Mutation_p.P1111L|FN1_ENST00000443816.1_Missense_Mutation_p.P1111L|FN1_ENST00000346544.3_Missense_Mutation_p.P1111L|FN1_ENST00000421182.1_Missense_Mutation_p.P1111L|FN1_ENST00000336916.4_Missense_Mutation_p.P1111L|FN1_ENST00000323926.6_Missense_Mutation_p.P1111L|FN1_ENST00000357009.2_Missense_Mutation_p.P1111L|FN1_ENST00000356005.4_Missense_Mutation_p.P1111L|FN1_ENST00000357867.4_Missense_Mutation_p.P1111L|FN1_ENST00000345488.5_Missense_Mutation_p.P1111L P02751 FINC_HUMAN fibronectin 1 1111 Fibronectin type-III 6. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCAATTCTTGGAGCAGGCGT 0.498000 27 72 0 0 0.00127121 0 0 ZBTB39 9880 broad.mit.edu 37 12 57396833 57396833 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:57396833G>A ENST00000300101.2 - 2 1954 c.1869C>T c.(1867-1869)caC>caT p.H623H NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 623 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 GGATCCGCCGGTGGTAGTTGA 0.552000 20 50 0 0 0.000586117 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958049 57958049 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:57958049C>T ENST00000311591.3 + 1 144 c.87C>T c.(85-87)ctC>ctT p.L29L NM_001005283.2 NP_001005283.1 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, member 2 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) CTCTCTTCCTCATATTTTTGA 0.488000 17 56 0 0 0.000958276 0 0 ZNF658 26149 broad.mit.edu 37 9 40772826 40772826 + Nonsense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:40772826G>A ENST00000602553.1 - 5 2743 c.2449C>T c.(2449-2451)Caa>Taa p.Q817* ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Nonsense_Mutation_p.Q817* Q5TYW1 ZN658_HUMAN zinc finger protein 658 817 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TGAATTCTTTGATGCACTATG 0.423000 15 48 0 0 0.00121646 0 0 GHR 2690 broad.mit.edu 37 5 42629201 42629201 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:42629201G>A ENST00000230882.4 + 3 322 c.132G>A c.(130-132)aaG>aaA p.K44K GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Intron NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 44 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CAGGCCTAAAGACAAGTAAGA 0.383000 5 56 0 0 8.12818e-05 0 0 USP39 10713 broad.mit.edu 37 2 85868235 85868235 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:85868235C>T ENST00000323701.6 + 10 1431 c.1421C>T c.(1420-1422)cCt>cTt p.P474L USP39_ENST00000409766.3_Missense_Mutation_p.P474L|USP39_ENST00000409025.1_Missense_Mutation_p.P474L|USP39_ENST00000409470.1_Missense_Mutation_p.P474L|USP39_ENST00000450066.2_Missense_Mutation_p.P371L|USP39_ENST00000459775.1_3'UTR NM_006590.3 NP_006581.2 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 474 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 GTCAATTTCCCTATTACGTAA 0.368000 19 44 0 0 0.00152264 0 0 MPP7 143098 broad.mit.edu 37 10 28420539 28420539 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:28420539C>T ENST00000337532.5 - 7 673 c.397G>A c.(397-399)Gag>Aag p.E133K MPP7_ENST00000375719.3_Missense_Mutation_p.E133K|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000445954.2_Missense_Mutation_p.E8K|MPP7_ENST00000375732.1_Missense_Mutation_p.E133K|MPP7_ENST00000540098.1_Missense_Mutation_p.E133K NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 133 establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 GAGTCTTCCTCATCGTCAATA 0.418000 13 65 0 0 0.00136819 0 0 PDZD2 23037 broad.mit.edu 37 5 32091217 32091217 + Missense_Mutation SNP A A G TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:32091217A>G ENST00000438447.1 + 20 8051 c.7663A>G c.(7663-7665)Agt>Ggt p.S2555G PDZD2_ENST00000282493.3_Missense_Mutation_p.S2555G O15018 PDZD2_HUMAN PDZ domain containing 2 2555 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TGAGACACCCAGTTCAGCCAG 0.537000 9 37 0 0 0.000442599 0 0 OXGR1 27199 broad.mit.edu 37 13 97639586 97639586 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr13:97639586G>A ENST00000298440.1 - 4 671 c.428C>T c.(427-429)tCc>tTc p.S143F OXGR1_ENST00000543457.1_Missense_Mutation_p.S143F NM_080818.3 NP_543008.3 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 143 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) TTTGTGAATGGAAAAGCAGCT 0.468000 10 28 0 0 0.000442599 0 0 COPG1 22820 broad.mit.edu 37 3 128971793 128971793 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:128971793C>T ENST00000314797.6 + 5 422 c.318C>T c.(316-318)acC>acT p.T106T NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 106 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity TCATTGTCACCAGCAGGCAAG 0.493000 7 45 0 0 0.000274275 0 0 CCDC66 285331 broad.mit.edu 37 3 56649275 56649275 + Silent SNP T T C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:56649275T>C ENST00000394672.3 + 12 1756 c.1686T>C c.(1684-1686)acT>acC p.T562T CCDC66_ENST00000436465.2_Silent_p.T562T|CCDC66_ENST00000326595.7_Silent_p.T528T NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 562 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) GACATGACACTTCTAGACTGA 0.353000 7 42 0 0 0.000274275 0 0 RGS7 6000 broad.mit.edu 37 1 240969442 240969442 + Nonsense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:240969442G>A ENST00000366565.1 - 15 1648 c.1267C>T c.(1267-1269)Cag>Tag p.Q423* RGS7_ENST00000446183.2_Nonsense_Mutation_p.Q339*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.Q423*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.Q423*|RGS7_ENST00000407727.1_Nonsense_Mutation_p.Q423*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.Q423*|RGS7_ENST00000401882.1_Nonsense_Mutation_p.Q370*|RGS7_ENST00000348120.2_Nonsense_Mutation_p.Q370*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.Q397* NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 423 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) ACACCCACCTGAGCATCTTCA 0.453000 14 53 0 0 0.000219431 0 0 PTH2R 5746 broad.mit.edu 37 2 209358265 209358265 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:209358265G>A ENST00000272847.2 + 13 1747 c.1534G>A c.(1534-1536)Gag>Aag p.E512K AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 512 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TTTCCACGAGGAGACCAAGGA 0.522000 7 43 0 0 8.12818e-05 0 0 GPR137 56834 broad.mit.edu 37 11 64055268 64055268 + Silent SNP C C A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:64055268C>A ENST00000539851.1 + 4 950 c.483C>A c.(481-483)tcC>tcA p.S161S GPR137_ENST00000377702.4_Silent_p.S161S|GPR137_ENST00000411458.1_Silent_p.S219S|GPR137_ENST00000438980.2_Silent_p.S161S|GPR137_ENST00000313074.3_Silent_p.S161S NM_001177358.1 NP_001170829.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 161 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 CTGTGCTCTCCCATCGGCGCC 0.667000 21 40 5.35356e-11 3.38672e-10 0.000375601 1 0 CNGB3 54714 broad.mit.edu 37 8 87680392 87680392 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr8:87680392C>T ENST00000320005.5 - 5 545 c.498G>A c.(496-498)aaG>aaA p.K166K NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 166 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 CAGCCGTGGGCTTTGCTTCAT 0.368000 10 74 0 0 0.00136819 0 0 B3GALT6 126792 broad.mit.edu 37 1 1168026 1168026 + Missense_Mutation SNP C C G TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:1168026C>G ENST00000379198.2 + 1 398 c.368C>G c.(367-369)cCc>cGc p.P123R NM_080605.3 NP_542172.2 Q96L58 B3GT6_HUMAN UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 123 glycosaminoglycan biosynthetic process|protein glycosylation Golgi cisterna membrane|Golgi medial cisterna|integral to membrane galactosylxylosylprotein 3-beta-galactosyltransferase activity lung(3) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CTGCTGCTGCCCGCGCTGCGC 0.736000 8 14 0 0 0.000274275 0 0 ARPP19 10776 broad.mit.edu 37 15 52849387 52849387 + Silent SNP T T C TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr15:52849387T>C ENST00000566423.1 - 3 211 c.78A>G c.(76-78)aaA>aaG p.K26K ARPP19_ENST00000568196.1_Silent_p.K10K|ARPP19_ENST00000561650.1_Silent_p.K10K|ARPP19_ENST00000569723.1_Intron|ARPP19_ENST00000569281.2_Silent_p.K26K|ARPP19_ENST00000249822.4_Silent_p.K26K|ARPP19_ENST00000567669.1_Silent_p.K26K|ARPP19_ENST00000561971.1_Silent_p.K45K|ARPP19_ENST00000563277.1_Silent_p.K10K|ARPP19_ENST00000564163.1_Silent_p.K45K|ARPP19_ENST00000563566.1_Silent_p.K10K P56211 ARP19_HUMAN cAMP-regulated phosphoprotein, 19kDa 26 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import cytoplasm potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 CTTCTTCTGCTTTCTCTGGAC 0.328000 11 45 0 0 0.000978159 0 0 DYNAP 284254 broad.mit.edu 37 18 52265162 52265162 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr18:52265162G>A ENST00000321600.1 + 3 465 c.419G>A c.(418-420)gGa>gAa p.G140E DYNAP_ENST00000585973.1_Missense_Mutation_p.G88E NM_173629.1 NP_775900.1 dynactin associated protein p.G140E(1) AATAACAAAGGATCGGCCAAT 0.438000 15 53 0 0 0.000422831 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125686141 125686141 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrX:125686141C>T ENST00000371126.1 - 1 693 c.451G>A c.(451-453)Ggc>Agc p.G151S NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 151 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 GCATGGATGCCGCAGCCCTGT 0.637000 4 17 0 0 0.00116845 0 0 SSTR1 6751 broad.mit.edu 37 14 38678861 38678861 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr14:38678861G>A ENST00000267377.2 + 3 884 c.267G>A c.(265-267)atG>atA p.M89I NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 89 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) ATGCCAAGATGAAGACGGCCA 0.547000 10 57 0 0 0.00136819 0 0 WDR11 55717 broad.mit.edu 37 10 122665478 122665478 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr10:122665478C>T ENST00000263461.6 + 27 3628 c.3382C>T c.(3382-3384)Ctc>Ttc p.L1128F WDR11_ENST00000604509.1_3'UTR NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 1128 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 ATCAAAGGCTCTCCTGGTTCT 0.522000 13 61 0 0 0.000219431 0 0 DLG1 1739 broad.mit.edu 37 3 196817861 196817861 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:196817861C>T ENST00000346964.2 - 16 1871 c.1682G>A c.(1681-1683)cGg>cAg p.R561Q DLG1_ENST00000452595.1_Missense_Mutation_p.R445Q|DLG1_ENST00000450955.1_Missense_Mutation_p.R528Q|DLG1_ENST00000448528.2_Missense_Mutation_p.R561Q|DLG1_ENST00000443183.1_Missense_Mutation_p.R445Q|DLG1_ENST00000422288.1_Missense_Mutation_p.R510Q|DLG1_ENST00000419354.1_Missense_Mutation_p.R561Q|DLG1_ENST00000314062.3_Missense_Mutation_p.R510Q|DLG1_ENST00000357674.4_Missense_Mutation_p.R528Q|DLG1_ENST00000392382.2_Missense_Mutation_p.R528Q NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 561 actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) CATCTGCTCCCGTAAATCATG 0.318000 15 68 0 0 0.000566183 0 0 ITM2B 9445 broad.mit.edu 37 13 48830397 48830397 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr13:48830397C>T ENST00000378565.5 + 3 534 c.331C>T c.(331-333)Ctc>Ttc p.L111F ITM2B_ENST00000378549.5_Intron NM_021999.4 NP_068839.1 Q9Y287 ITM2B_HUMAN integral membrane protein 2B 111 nervous system development Golgi membrane|integral to membrane|nucleus|plasma membrane beta-amyloid binding endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;1.97e-06) CCCAGCTGCTCTCTACCAGAC 0.393000 19 52 0 0 0.000958276 0 0 OR10J5 127385 broad.mit.edu 37 1 159505084 159505084 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:159505084G>A ENST00000334857.2 - 1 758 c.714C>T c.(712-714)gcC>gcT p.A238A NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) AGACACAGGTGGCAAAGGTCT 0.478000 6 43 0 0 0.00116845 0 0 DCBLD1 285761 broad.mit.edu 37 6 117858354 117858354 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:117858354C>T ENST00000338728.5 + 7 846 c.726C>T c.(724-726)tcC>tcT p.S242S DCBLD1_ENST00000368503.4_Silent_p.S242S|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Silent_p.S242S Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 242 LCCL. cell adhesion integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) TCAGTGGTTCCCTGTCAGACA 0.418000 18 72 0 0 0.00121646 0 0 PATE2 399967 broad.mit.edu 37 11 125648651 125648651 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr11:125648651G>A ENST00000358524.3 - 1 63 c.18C>T c.(16-18)ctC>ctT p.L6L PATE2_ENST00000436890.2_Silent_p.L6L NM_212555.2 NP_997720.1 Q6UY27 PATE2_HUMAN prostate and testis expressed 2 6 extracellular space endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1) 6 CTGTGCCCAGGAGAAAGAGAA 0.517000 12 17 0 0 0.00185496 0 0 DHX16 8449 broad.mit.edu 37 6 30633507 30633507 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:30633507G>A ENST00000376442.3 - 5 865 c.670C>T c.(670-672)Cct>Tct p.P224S NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 224 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 CGCAGCTCAGGGACCTGAGTT 0.557000 32 38 0 0 0.00111076 0 0 PRB3 5544 broad.mit.edu 37 12 11420926 11420926 + RNA SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:11420926C>T ENST00000381842.3 - 0 294 PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGACTGGTTTCCTCCTTGTGG 0.627000 27 164 0 0 0.000491102 0 0 EVC 2121 broad.mit.edu 37 4 5743514 5743514 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:5743514C>T ENST00000382674.2 + 6 958 c.774C>T c.(772-774)taC>taT p.Y258Y EVC_ENST00000264956.6_Silent_p.Y258Y|EVC_ENST00000509451.1_Silent_p.Y258Y P57679 EVC_HUMAN Ellis van Creveld syndrome 258 Y -> H (in dbSNP:rs6414624). muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) ATGAACTATACCAGAAGATCC 0.284000 7 68 0 0 0.000274275 0 0 OR5K4 403278 broad.mit.edu 37 3 98072717 98072717 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr3:98072717C>T ENST00000354924.2 + 1 20 c.20C>T c.(19-21)tCc>tTc p.S7F RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 GAAAATCACTCCTTAGCAGCT 0.403000 6 28 0 0 0.00116845 0 0 SETX 23064 broad.mit.edu 37 9 135224778 135224778 + Missense_Mutation SNP G G T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:135224778G>T ENST00000372169.2 - 3 220 c.38C>A c.(37-39)tCc>tAc p.S13Y SETX_ENST00000393220.1_Missense_Mutation_p.S13Y|SETX_ENST00000224140.5_Missense_Mutation_p.S13Y Q7Z333 SETX_HUMAN senataxin 13 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) GTCAATGGTGGAAGCACCACC 0.488000 12 51 1.3612e-06 8.57402e-06 0.000308642 1 0 ABCA2 20 broad.mit.edu 37 9 139908777 139908777 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:139908777G>A ENST00000265662.5 - 27 4230 c.4083C>T c.(4081-4083)gcC>gcT p.A1361A ABCA2_ENST00000371605.3_Silent_p.A1360A|ABCA2_ENST00000341511.6_Silent_p.A1361A Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1360 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CCGAGCACCGGGCCAGATTGC 0.677000 3 7 0 0 0.000602214 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4968578 4968578 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chrY:4968578C>T ENST00000333703.4 + 5 3439 c.2926C>T c.(2926-2928)Ccc>Tcc p.P976S PCDH11Y_ENST00000362095.5_Missense_Mutation_p.P987S|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.P987S NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 987 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GCCTGAAACTCCCCTGAATTT 0.488000 28 50 0 0 0.00178596 0 0 STRA6 64220 broad.mit.edu 37 15 74487809 74487809 + Splice_Site SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr15:74487809C>T ENST00000323940.5 - 7 676 c.430_splice c.e7-1 p.G144_splice STRA6_ENST00000423167.2_Splice_Site_p.G135_splice|STRA6_ENST00000416286.3_Splice_Site_p.G136_splice|STRA6_ENST00000535552.1_Splice_Site_p.G181_splice|STRA6_ENST00000574278.1_Splice_Site_p.G159_splice|STRA6_ENST00000449139.2_Splice_Site_p.G144_splice|STRA6_ENST00000432245.2_3'UTR|STRA6_ENST00000395105.4_Splice_Site_p.G144_splice|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Splice_Site_p.G183_splice NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 144 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 CTTCCAGGCCCCTGGAAGGTG 0.617000 7 29 0 0 0.000157383 0 0 RTN2 6253 broad.mit.edu 37 19 45998062 45998062 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr19:45998062G>A ENST00000245923.4 - 3 516 c.281C>T c.(280-282)tCg>tTg p.S94L PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.S94L NM_005619.4 NP_005610.1 O75298 RTN2_HUMAN reticulon 2 94 integral to endoplasmic reticulum membrane signal transducer activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1) 20 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) TCGTGGTTCCGAGACTGAGCG 0.677000 11 33 0 0 0.00136819 0 0 CDH9 1007 broad.mit.edu 37 5 26881414 26881414 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr5:26881414G>A ENST00000231021.4 - 12 2373 c.2201C>T c.(2200-2202)tCg>tTg p.S734L NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 734 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CGTTGCCAGCGAATCATATGG 0.423000 28 50 0 0 0.00127121 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059329 152059329 + Missense_Mutation SNP C C T rs114173361 byFrequency TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr1:152059329C>T ENST00000368806.1 - 3 893 c.829G>A c.(829-831)Gaa>Aaa p.E277K NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 277 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GTTCTAACTTCCTGATCTTCA 0.433000 32 128 0 0 0.00178596 0 0 EP400 57634 broad.mit.edu 37 12 132490707 132490707 + Missense_Mutation SNP A A T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr12:132490707A>T ENST00000333577.4 + 15 3203 c.3094A>T c.(3094-3096)Atc>Ttc p.I1032F EP400_ENST00000389562.2_Missense_Mutation_p.I995F|EP400_ENST00000332482.4_Missense_Mutation_p.I959F|EP400_ENST00000330386.6_Missense_Mutation_p.I996F|EP400_ENST00000389561.2_Missense_Mutation_p.I996F Q96L91 EP400_HUMAN E1A binding protein p400 1032 Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CTTGGTTCTCATCGACTCGCT 0.507000 8 35 0 0 0.000274275 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39176055 39176055 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:39176055G>A ENST00000297668.6 - 7 1035 c.962C>T c.(961-963)tCg>tTg p.S321L CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.S321L|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.S321L|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.S233L|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.S321L NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 321 Laminin G-like 1. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding p.S321L(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAATGCCCGCGATCTTCCGGG 0.378000 13 53 0 0 0.000422831 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882461 228882461 + Missense_Mutation SNP G G T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr2:228882461G>T ENST00000392056.3 - 7 3155 c.3109C>A c.(3109-3111)Ctt>Att p.L1037I SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1037I NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1037 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTGGCAAAAAGATTGACAGAA 0.502000 17 99 2.4624e-09 1.55326e-08 0.00121646 1 0 INTU 27152 broad.mit.edu 37 4 128584647 128584647 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr4:128584647G>A ENST00000335251.5 + 4 983 c.880G>A c.(880-882)Gag>Aag p.E294K INTU_ENST00000296461.5_Missense_Mutation_p.E294K NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 294 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 CTGGGGAGAAGAGGTTGAAGG 0.433000 14 69 0 0 0.000308642 0 0 ABHD16A 7920 broad.mit.edu 37 6 31655435 31655435 + Frame_Shift_Del DEL G G - TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr6:31655435delG ENST00000375842.4 - 18 1859 c.873delC c.(871-873)gafs p.D291fs ABHD16A_ENST00000471644.1_5'UTR|ABHD16A_ENST00000440843.2_Frame_Shift_Del_p.D477fs|ABHD16A_ENST00000395952.3_Frame_Shift_Del_p.D510fs|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR O95870 ABHGA_HUMAN abhydrolase domain containing 16A 510 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 TCCAGGGGAAGTCGGGCCCGT 0.592 114 182 --- --- --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs34222232 TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr9:139277995_139277997delGCT ENST00000298532.2 - 15 1992_1994 c.1624_1626delAGC c.(1624-1626)del p.S542del NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(2) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 2 4 --- --- --- --- TRAV9-1 28678 broad.mit.edu 37 14 22279845 22279846 + RNA INS - - T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2af0449e-4996-4cf8-aa87-adfd9166430d c679b389-8d6c-43e9-b10f-a24d8d2f04cd g.chr14:22279845_22279846insT ENST00000390431.3 + 0 46 TAATTTGTTTATTTTTTTTTCA 0.406 4 8 --- --- --- ---