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 TNRC6A 27327 broad.mit.edu 37 16 24826599 24826599 + Missense_Mutation SNP G G A rs148426730 TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:24826599G>A ENST00000395799.3 + 19 4933 c.4804G>A c.(4804-4806)Ggc>Agc p.G1602S CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_Missense_Mutation_p.G80S|TNRC6A_ENST00000315183.7_Missense_Mutation_p.G1553S NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1602 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) ATCGCCTAACGGCTCTAGCAG 0.433000 67 2 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160122998 160122998 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:160122998C>T ENST00000368081.4 + 2 662 c.191C>T c.(190-192)tCc>tTc p.S64F NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 64 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACCAAGTACTCCGTGGACctg 0.532000 43 10 0 0 1 0 0 IL37 27178 broad.mit.edu 37 2 113676170 113676170 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr2:113676170G>A ENST00000263326.3 + 5 483 c.441G>A c.(439-441)aaG>aaA p.K147K IL37_ENST00000349806.3_Silent_p.K86K|IL37_ENST00000353225.3_Silent_p.K107K|IL37_ENST00000352179.3_Silent_p.K126K|IL37_ENST00000311328.2_Silent_p.K121K NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 147 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 CTGCCCAAAAGGAATCAGCAC 0.527000 46 4 0 0 1 0 0 BMP2 650 broad.mit.edu 37 20 6750995 6750995 + Silent SNP G G A rs79417223 TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr20:6750995G>A ENST00000378827.4 + 2 1441 c.222G>A c.(220-222)gtG>gtA p.V74V NM_001200.2 NP_001191.1 P12643 BMP2_HUMAN bone morphogenetic protein 2 74 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) GGGACGCCGTGGTGCCCCCCT 0.657000 49 33 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404411 20404411 + Missense_Mutation SNP G G A rs149331048 TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr14:20404411G>A ENST00000285600.4 + 1 645 c.586G>A c.(586-588)Gaa>Aaa p.E196K NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E196K(1) 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) ATATGAAATGGAAATTATGAC 0.448000 23 74 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 3030140 3030140 + Silent SNP A A T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr3:3030140A>T ENST00000397461.1 + 13 1854 c.1470A>T c.(1468-1470)ggA>ggT p.G490G CNTN4_ENST00000448906.2_Silent_p.G162G|CNTN4_ENST00000358480.3_Silent_p.G271G|CNTN4_ENST00000418658.1_Silent_p.G490G|CNTN4_ENST00000397459.2_Silent_p.G162G|CNTN4_ENST00000427331.1_Silent_p.G490G|CNTN4_ENST00000475817.1_3'UTR NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 490 Ig-like C2-type 5. 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) GCAGTACTGGAAACTTGGTAG 0.388000 26 38 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108754262 108754262 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr3:108754262C>T ENST00000232603.5 - 15 1466 c.1384G>A c.(1384-1386)Gat>Aat p.D462N MORC1_ENST00000483760.1_Missense_Mutation_p.D462N NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 462 D -> E (in dbSNP:rs3762696). cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTCTCCACATCGATGTCATTC 0.289000 17 20 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114508861 114508861 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:114508861C>T ENST00000369558.1 + 11 2580 c.2348C>T c.(2347-2349)gCc>gTc p.A783V HIPK1_ENST00000406344.1_Missense_Mutation_p.A389V|HIPK1_ENST00000340480.4_Missense_Mutation_p.A409V|HIPK1_ENST00000369553.1_Missense_Mutation_p.A389V|HIPK1_ENST00000369554.2_Missense_Mutation_p.A738V|HIPK1_ENST00000369555.2_Missense_Mutation_p.A738V|HIPK1_ENST00000369559.4_Missense_Mutation_p.A783V|HIPK1_ENST00000369561.4_Missense_Mutation_p.A749V|HIPK1_ENST00000426820.2_Missense_Mutation_p.A783V Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 783 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) 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) ATTCCAGAGGCCATGGGGAGT 0.547000 4 54 0 0 1 0 0 FOPNL 123811 broad.mit.edu 37 16 15978036 15978036 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:15978036C>T ENST00000255759.6 - 2 84 c.55G>A c.(55-57)Ggg>Agg p.G19R FOPNL_ENST00000575744.1_Intron|FOPNL_ENST00000575073.1_Missense_Mutation_p.G19R|FOPNL_ENST00000573968.1_Missense_Mutation_p.G19R|FOPNL_ENST00000573396.1_Missense_Mutation_p.G19R|FOPNL_ENST00000573429.1_Missense_Mutation_p.G19R NM_144600.2 NP_653201.1 Q96NB1 FOPNL_HUMAN FGFR1OP N-terminal like 19 Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites. cilium assembly|microtubule anchoring centriolar satellite|microtubule basal body|motile cilium identical protein binding breast(1)|large_intestine(1)|lung(5)|stomach(4) 11 CCTAATACCCCCTTTTTTTCC 0.373000 14 3 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207791445 207791445 + Missense_Mutation SNP G G C TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:207791445G>C ENST00000367049.4 + 42 6919 c.6919G>C c.(6919-6921)Ggg>Cgg p.G2307R CR1_ENST00000400960.2_Missense_Mutation_p.G1857R|CR1_ENST00000367051.1_Missense_Mutation_p.G1857R|CR1_ENST00000367052.1_Missense_Mutation_p.G1857R|CR1_ENST00000367053.1_Missense_Mutation_p.G1857R NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1857 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GATCCAAAACGGGCATTACAT 0.433000 85 15 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95746569 95746569 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr5:95746569G>A ENST00000311106.3 - 8 1241 c.1004C>T c.(1003-1005)tCc>tTc p.S335F PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.S288F NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 335 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCCTTGCTGGGAGGCACTGCT 0.557000 126 19 0 0 1 0 0 STX11 8676 broad.mit.edu 37 6 144507863 144507863 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr6:144507863C>T ENST00000367568.4 + 2 282 c.99C>T c.(97-99)atC>atT p.I33I NM_003764.3 NP_003755.2 O75558 STX11_HUMAN syntaxin 11 33 cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) ACGAGGACATCGTGTTCGAGA 0.557000 Familial Hemophagocytic Lymphohistiocytosis 19 5 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38357408 38357408 + Missense_Mutation SNP C C A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr13:38357408C>A ENST00000379705.3 - 2 920 c.63G>T c.(61-63)agG>agT p.R21S TRPC4_ENST00000358477.2_Missense_Mutation_p.R21S|TRPC4_ENST00000379679.1_Missense_Mutation_p.R21S|TRPC4_ENST00000338947.5_Missense_Mutation_p.R21S|TRPC4_ENST00000379681.3_Missense_Mutation_p.R21S|TRPC4_ENST00000355779.2_Missense_Mutation_p.R21S|TRPC4_ENST00000379673.2_Missense_Mutation_p.R21S|TRPC4_ENST00000447043.1_Missense_Mutation_p.R21S|TRPC4_ENST00000426868.2_Missense_Mutation_p.R21S Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 21 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CTCTTACTATCCTTAGAGGGA 0.418000 53 140 4.17328e-34 4.31719e-34 1 1 0 C10orf71 118461 broad.mit.edu 37 10 50530807 50530807 + Missense_Mutation SNP G G T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr10:50530807G>T ENST00000374144.3 + 3 505 c.217G>T c.(217-219)Ggc>Tgc p.G73C C10orf71_ENST00000323868.4_Missense_Mutation_p.G73C Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 73 endometrium(1) 1 GAGAACAGTGGGCCACACCCA 0.557000 30 15 2.46105e-21 2.51985e-21 1 1 0 AKNA 80709 broad.mit.edu 37 9 117119168 117119168 + Missense_Mutation SNP G G T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr9:117119168G>T ENST00000307564.4 - 13 2982 c.2821C>A c.(2821-2823)Cca>Aca p.P941T AKNA_ENST00000374088.3_Missense_Mutation_p.P941T|AKNA_ENST00000223791.3_Missense_Mutation_p.P401T|AKNA_ENST00000374075.5_Missense_Mutation_p.P860T NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 941 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 CGGTGCTCTGGAGTCTGGGTG 0.587000 131 11 4.17978e-45 4.33887e-45 1 1 0 NDST2 8509 broad.mit.edu 37 10 75562317 75562317 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr10:75562317C>T ENST00000299641.4 - 16 3145 c.2175G>A c.(2173-2175)acG>acA p.T725T NDST2_ENST00000309979.6_Silent_p.T848T NM_003635.3 NP_003626.1 P52849 NDST2_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 848 Heparan sulfate N-sulfotransferase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Prostate(51;0.0112) GGAAAAAATCCGTAAGGAAAA 0.522000 27 2 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298845 107298845 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr9:107298845G>A ENST00000374781.2 - 1 292 c.250C>T c.(250-252)Cat>Tat p.H84Y NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 GTGTGAAAATGAGAATCAAAG 0.403000 59 6 0 0 1 0 0 GPC4 2239 broad.mit.edu 37 X 132437080 132437080 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chrX:132437080C>T ENST00000370828.3 - 9 2010 c.1486G>A c.(1486-1488)Gaa>Aaa p.E496K GPC4_ENST00000535467.1_Missense_Mutation_p.E426K NM_001448.2 NP_001439.2 O75487 GPC4_HUMAN glypican 4 496 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) CCACTTCCTTCTCCACTACTT 0.418000 6 297 0 0 1 0 0 LEPRE1 64175 broad.mit.edu 37 1 43212523 43212523 + Splice_Site SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:43212523C>T ENST00000397054.3 - 15 2187 c.2074_splice c.e15-1 p.G692_splice LEPRE1_ENST00000296388.5_Splice_Site_p.D686_splice|LEPRE1_ENST00000236040.4_3'UTR|LEPRE1_ENST00000462474.1_5'UTR NM_001146289.1|NM_022356.3 NP_001139761.1|NP_071751.3 Q32P28 P3H1_HUMAN leucine proline-enriched proteoglycan (leprecan) 1 0 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TGCACCCTGTCCTGCAAGGAC 0.597000 4 37 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25417693 25417693 + RNA SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr15:25417693C>T ENST00000549301.1 + 0 471 SNHG14_ENST00000553149.1_RNA GCTCAGCCCTCCCTGGCACTC 0.627000 42 32 0 0 1 0 0 ANGEL1 23357 broad.mit.edu 37 14 77272799 77272799 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr14:77272799C>T ENST00000251089.2 - 5 1452 c.1340G>A c.(1339-1341)aGg>aAg p.R447K NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 447 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) CTCTCCATCCCTGATGAAGTT 0.547000 16 24 0 0 1 0 0 B4GALT7 11285 broad.mit.edu 37 5 177035919 177035919 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr5:177035919C>T ENST00000029410.5 + 5 843 c.732C>T c.(730-732)cgC>cgT p.R244R NM_007255.2 NP_009186.1 Q9UBV7 B4GT7_HUMAN xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 244 fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process Golgi cisterna membrane|integral to membrane metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 7 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) 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) AGCTTTTCCGCCCCTCGGGAA 0.622000 56 4 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558840 113558840 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:113558840C>T ENST00000284601.3 - 1 280 c.212G>A c.(211-213)gGa>gAa p.G71E NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 71 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 AAGATTGAATCCAAAGGAATC 0.408000 70 82 0 0 1 0 0 PRH1 5554 broad.mit.edu 37 12 11034877 11034877 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr12:11034877C>T ENST00000428168.2 - 4 495 c.458G>A c.(457-459)gGg>gAg p.G153E PRR4_ENST00000536668.1_5'UTR NM_006250.3 NP_006241.2 P02810 PRPC_HUMAN proline-rich protein HaeIII subfamily 1 153 extracellular space protein binding endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(232;0.245) TGGGCGGCCCCCTTGGGGAGG 0.587000 13 136 0 0 1 0 0 PARP1 142 broad.mit.edu 37 1 226549185 226549185 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:226549185G>A ENST00000366794.5 - 23 3164 c.3021C>T c.(3019-3021)ttC>ttT p.F1007F PARP1_ENST00000490921.1_5'UTR NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 1007 PARP catalytic. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) TCTTAAAATTGAATTTCAGTT 0.473000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 54 10 0 0 1 0 0 MTMR7 9108 broad.mit.edu 37 8 17166820 17166820 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr8:17166820C>T ENST00000180173.5 - 10 1151 c.1117G>A c.(1117-1119)Gac>Aac p.D373N MTMR7_ENST00000398099.3_Intron|MTMR7_ENST00000521857.1_Missense_Mutation_p.D373N NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 373 Myotubularin phosphatase. protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) GAAATCCAGTCCTTTTCAATT 0.308000 28 8 0 0 1 0 0 HHLA2 11148 broad.mit.edu 37 3 108081263 108081263 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr3:108081263C>T ENST00000357759.5 + 7 1492 c.1078C>T c.(1078-1080)Ctg>Ttg p.L360L HHLA2_ENST00000467761.1_Silent_p.L360L|HHLA2_ENST00000467562.1_Silent_p.L296L|HHLA2_ENST00000491820.1_Silent_p.L360L|HHLA2_ENST00000489514.2_Silent_p.L360L NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 360 integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 GGCAGCTTTTCTGCTGATTTG 0.403000 6 11 0 0 1 0 0 UNKL 64718 broad.mit.edu 37 16 1448893 1448893 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:1448893G>A ENST00000301712.5 - 6 843 c.784C>T c.(784-786)Cca>Tca p.P262S UNKL_ENST00000508903.2_Intron|UNKL_ENST00000397462.1_Intron|UNKL_ENST00000389221.4_Intron NM_001037125.2 NP_001032202.1 Q9H9P5 UNKL_HUMAN unkempt family zinc finger-like 0 cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Hepatocellular(780;0.0893) GCGACCCTTGGGTTGTTGGCC 0.657000 5 0 0 0 1 0 0 C15orf53 400359 broad.mit.edu 37 15 38988833 38988833 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr15:38988833G>A ENST00000318792.1 + 1 35 c.25G>A c.(25-27)Gac>Aac p.D9N NM_207444.2 NP_997327.1 Q8NAA6 CO053_HUMAN chromosome 15 open reading frame 53 9 endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1) 6 all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321) GGCCCAAGAGGACCTGGGCAT 0.557000 34 47 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 4 58 0 0 1 0 0 FLI1 2313 broad.mit.edu 37 11 128628020 128628020 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr11:128628020C>T ENST00000429175.2 + 2 293 c.29C>T c.(28-30)tCg>tTg p.S10L FLI1_ENST00000527767.2_3'UTR|FLI1_ENST00000344954.6_5'UTR|FLI1_ENST00000525560.1_5'UTR|FLI1_ENST00000534087.1_5'UTR NM_002017.3 NP_002008.2 Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 10 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S10*(1) EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) GAGGCTCTGTCGGTGGTGAGC 0.612000 T EWSR1 Ewing sarcoma 5 2 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42004565 42004565 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:42004565C>T ENST00000395925.3 - 15 4190 c.4106G>A c.(4105-4107)gGc>gAc p.G1369D GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1369 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GCTGCCCATGCCGTGAGCCCC 0.642000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 80 62 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47836718 47836718 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr21:47836718C>T ENST00000359568.5 + 30 6993 c.6886C>T c.(6886-6888)Ccg>Tcg p.P2296S PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2296 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CGAGTCTCCGCCGGCTGACGA 0.697000 66 40 0 0 1 0 0 KCTD9 54793 broad.mit.edu 37 8 25296851 25296851 + Missense_Mutation SNP A A G TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr8:25296851A>G ENST00000221200.4 - 6 663 c.443T>C c.(442-444)aTt>aCt p.I148T NM_017634.3 NP_060104.2 Q7L273 KCTD9_HUMAN potassium channel tetramerization domain containing 9 148 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1) 12 all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438) GTAGTTCAAAATGGGTTCGAA 0.358000 10 50 0 0 1 0 0 MARVELD2 153562 broad.mit.edu 37 5 68715365 68715365 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr5:68715365C>T ENST00000325631.5 + 2 227 c.153C>T c.(151-153)ctC>ctT p.L51L MARVELD2_ENST00000413223.2_Silent_p.L51L NM_001038603.2|NM_001244734.1 NP_001033692.2|NP_001231663.1 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 51 Poly-Pro. sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) CACCCCCTCTCCCATTACAGC 0.542000 50 10 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34310700 34310700 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr18:34310700C>T ENST00000257209.4 + 17 3106 c.2984C>T c.(2983-2985)cCt>cTt p.P995L FHOD3_ENST00000445677.1_Missense_Mutation_p.P957L|FHOD3_ENST00000591635.1_Missense_Mutation_p.P191L|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.P1170L|FHOD3_ENST00000359247.4_Missense_Mutation_p.P978L NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 978 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) GTGCTGCCCCCTCCAAGGACG 0.413000 48 44 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73269905 73269905 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr10:73269905G>A ENST00000224721.6 + 3 217 c.212G>A c.(211-213)gGg>gAg p.G71E CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000398809.4_Missense_Mutation_p.G71E|CDH23_ENST00000461841.3_Missense_Mutation_p.G116E|CDH23_ENST00000299366.7_Missense_Mutation_p.G116E|CDH23_ENST00000398842.3_Missense_Mutation_p.G71E NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 71 Cadherin 1. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GGCGTGTCTGGGGAGGAGGCC 0.592000 51 7 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151970848 151970848 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:151970848C>T ENST00000355193.2 - 7 1172 c.954G>A c.(952-954)caG>caA p.Q318Q KMT2C_ENST00000262189.6_Silent_p.Q318Q lysine (K)-specific methyltransferase 2C GACTGAAATCCTGAAAGGTGC 0.423000 15 227 0 0 1 0 0 SHANK3 85358 broad.mit.edu 37 22 51117584 51117584 + Silent SNP C C G TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr22:51117584C>G ENST00000414786.2 + 6 965 c.738C>G c.(736-738)acC>acG p.T246T SHANK3_ENST00000445220.2_Silent_p.T246T|SHANK3_ENST00000262795.3_Silent_p.T246T F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 246 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) TGGGGATCACCGACGAGAATG 0.667000 9 7 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73046551 73046551 + RNA SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chrX:73046551C>T ENST00000604411.1 + 0 34512 XIST_ENST00000429829.1_lincRNA NR_003255.2 CCTCCAGATTCCGGCCGTTAG 0.502000 153 2 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57957188 57957188 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:57957188C>T ENST00000564448.1 - 18 1674 c.1614G>A c.(1612-1614)ccG>ccA p.P538P CNGB1_ENST00000251102.8_Silent_p.P544P Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 544 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 CAGTGTCCTTCGGGGTGGTGG 0.582000 27 3 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 169099312 169099312 + Splice_Site SNP T T G TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr3:169099312T>G ENST00000494292.1 - 2 135 c.37_splice c.e2-1 p.N13_splice MECOM_ENST00000485957.1_5'UTR NM_004991.3 NP_004982.2 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 13 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 ACACTCATTATCTGTGAATAA 0.393000 10 5 0 0 1 0 0 UGT3A2 167127 broad.mit.edu 37 5 36035969 36035969 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr5:36035969G>A ENST00000282507.3 - 7 1504 c.1403C>T c.(1402-1404)gCg>gTg p.A468V UGT3A2_ENST00000513300.1_Missense_Mutation_p.A434V|UGT3A2_ENST00000545528.1_Missense_Mutation_p.A166V NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 468 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAGGTGCGTCGCGCCCCCTGT 0.632000 23 106 0 0 1 0 0 DPY19L3 147991 broad.mit.edu 37 19 32954292 32954292 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr19:32954292C>T ENST00000342179.5 + 13 1558 c.1343C>T c.(1342-1344)tCc>tTc p.S448F DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.S448F|DPY19L3_ENST00000586987.1_Missense_Mutation_p.S448F NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 448 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) AATCAACAATCCGTGGGTAAA 0.338000 18 15 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 6 69 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30500666 30500666 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:30500666G>A ENST00000356798.6 + 11 1352 c.1172G>A c.(1171-1173)gGg>gAg p.G391E ITGAL_ENST00000568012.1_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.G308E|RP11-297C4.2_ENST00000569459.1_RNA NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 391 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) ACATTTATTGGGAATGAACCA 0.542000 66 4 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121930112 121930112 + Silent SNP G G A rs148767782 TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr9:121930112G>A ENST00000265922.3 - 8 1997 c.1536C>T c.(1534-1536)ctC>ctT p.L512L DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 512 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 AGAAGGTGTCGAGGCGGATCT 0.562000 51 5 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157985048 157985048 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:157985048G>A ENST00000389413.3 - 5 623 c.520C>T c.(520-522)Cat>Tat p.H174Y PTPRN2_ENST00000389416.4_Missense_Mutation_p.H157Y|PTPRN2_ENST00000404321.2_Missense_Mutation_p.H197Y|PTPRN2_ENST00000389418.4_Missense_Mutation_p.H174Y|PTPRN2_ENST00000409483.1_Missense_Mutation_p.H136Y NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 174 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TGCGCCGTATGGGTCCTGGCG 0.692000 45 65 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59750734 59750734 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr8:59750734G>A ENST00000361421.1 - 5 1050 c.830C>T c.(829-831)gCc>gTc p.A277V NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 277 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CTTGATGGCGGCCTGAGTATC 0.463000 142 9 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19474666 19474666 + Nonsense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:19474666C>T ENST00000396229.2 + 7 1962 c.1213C>T c.(1213-1215)Cag>Tag p.Q405* TMC5_ENST00000564959.1_Nonsense_Mutation_p.Q88*|TMC5_ENST00000541464.1_Nonsense_Mutation_p.Q405*|TMC5_ENST00000561503.1_Nonsense_Mutation_p.Q46*|TMC5_ENST00000381414.4_Nonsense_Mutation_p.Q405*|TMC5_ENST00000219821.5_Nonsense_Mutation_p.Q159*|TMC5_ENST00000542583.2_Nonsense_Mutation_p.Q405* NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 405 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TTGCTGTATTCAGTGTCTGAA 0.453000 95 5 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50264896 50264896 + Missense_Mutation SNP T T A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr15:50264896T>A ENST00000284509.6 - 13 1267 c.1126A>T c.(1126-1128)Acg>Tcg p.T376S ATP8B4_ENST00000559829.1_Missense_Mutation_p.T376S NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 376 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) AGCGTGGTCGTTCGAGCCACT 0.428000 29 14 0 0 1 0 0 FGF17 8822 broad.mit.edu 37 8 21904051 21904051 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr8:21904051G>A ENST00000359441.3 + 4 767 c.264G>A c.(262-264)gtG>gtA p.V88V FGF17_ENST00000518533.1_Silent_p.V77V|FGF17_ENST00000521709.1_Intron NM_003867.2 NP_003858.1 O60258 FGF17_HUMAN fibroblast growth factor 17 88 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development extracellular space growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 8 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) AGCTCATAGTGGAGACGGACA 0.602000 67 21 0 0 1 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1816956 1816956 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:1816956C>T ENST00000250894.4 + 25 3226 c.3069C>T c.(3067-3069)atC>atT p.I1023I MAPK8IP3_ENST00000356010.5_Silent_p.I1017I NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 1023 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 CCCTGGCCATCTTCCACCGTG 0.662000 93 5 0 0 1 0 0 CETP 1071 broad.mit.edu 37 16 57003346 57003346 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:57003346G>A ENST00000200676.3 + 3 412 c.282G>A c.(280-282)gtG>gtA p.V94V CETP_ENST00000566128.1_Silent_p.V29V|CETP_ENST00000379780.2_Silent_p.V94V|CETP_ENST00000569082.1_3'UTR NM_000078.2 NP_000069.2 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 94 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 TGGAGCTGGTGGAAGCCAAGT 0.552000 58 4 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9057316 9057316 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr3:9057316G>A ENST00000383836.3 - 15 2205 c.1778C>T c.(1777-1779)cCt>cTt p.P593L SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.P569L|SRGAP3-AS1_ENST00000414633.1_RNA 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) CCTTTCCTTAGGAAAGAGTGG 0.393000 T RAF1 pilocytic astrocytoma 43 29 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101944592 101944592 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr13:101944592G>A ENST00000251127.6 - 8 1006 c.925C>T c.(925-927)Ctc>Ttc p.L309F NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.L309F NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 309 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGCCAGGCGAGGAAGAAAATG 0.468000 13 28 0 0 1 0 0 RNF219 79596 broad.mit.edu 37 13 79212996 79212996 + Missense_Mutation SNP A A T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr13:79212996A>T ENST00000282003.6 - 4 569 c.511T>A c.(511-513)Tat>Aat p.Y171N NM_024546.3 NP_078822.3 Q5W0B1 RN219_HUMAN ring finger protein 219 171 zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) ACTTTTTCATAGATTTCATTA 0.313000 28 68 0 0 1 0 0 GJA10 84694 broad.mit.edu 37 6 90605675 90605675 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr6:90605675C>T ENST00000369352.1 + 1 1488 c.1488C>T c.(1486-1488)ttC>ttT p.F496F NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 496 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) AAGAGCTGTTCCATTCTGGAT 0.478000 83 7 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143039185 143039185 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:143039185C>T ENST00000343257.2 + 15 1833 c.1746C>T c.(1744-1746)atC>atT p.I582I NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 582 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) ACAGCATCATCCAGGTCAAGA 0.547000 58 60 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 4 8 0.00909568 0.00909568 1 1 0 ABCC11 85320 broad.mit.edu 37 16 48244916 48244916 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:48244916C>T ENST00000394747.1 - 10 1900 c.1551G>A c.(1549-1551)gaG>gaA p.E517E ABCC11_ENST00000356608.2_Silent_p.E517E|ABCC11_ENST00000537808.1_Silent_p.E517E|ABCC11_ENST00000394748.1_Silent_p.E517E|ABCC11_ENST00000353782.5_Silent_p.E517E NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 517 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TCCCTTCTTCCTCTGGCCCGA 0.617000 25 4 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37682121 37682121 + Silent SNP T T C TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr17:37682121T>C ENST00000447079.4 + 13 3345 c.3312T>C c.(3310-3312)ctT>ctC p.L1104L CDK12_ENST00000430627.2_Silent_p.L1104L NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1104 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 CAACAGGCCTTGCTGACATCA 0.463000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 39 1 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60687718 60687718 + Missense_Mutation SNP A A G TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr2:60687718A>G ENST00000335712.6 - 4 2556 c.2329T>C c.(2329-2331)Tat>Cat p.Y777H BCL11A_ENST00000538214.1_Missense_Mutation_p.Y743H|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.Y743H|BCL11A_ENST00000477659.1_5'UTR NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 777 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GCACAGGCATAGTTGCACAGC 0.483000 T IGH@ B-CLL 53 110 0 0 1 0 0 PLA2G2A 5320 broad.mit.edu 37 1 20304910 20304910 + Missense_Mutation SNP C C T rs142941380 TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:20304910C>T ENST00000375111.3 - 4 419 c.148G>A c.(148-150)Gtg>Atg p.V50M PLA2G2A_ENST00000400520.3_Missense_Mutation_p.V50M|PLA2G2A_ENST00000496748.1_5'UTR NM_000300.3|NM_001161727.1 NP_000291.1|NP_001155199.1 P14555 PA2GA_HUMAN phospholipase A2, group IIA (platelets, synovial fluid) 50 defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation endoplasmic reticulum|extracellular space|membrane calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding central_nervous_system(1)|lung(6)|prostate(1)|stomach(1) 9 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CTGCCACCCACGCCACAGTGG 0.582000 23 9 0 0 1 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900620 151900620 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chrX:151900620G>A ENST00000393900.3 - 3 534 c.181C>T c.(181-183)Cct>Tct p.P61S MAGEA12_ENST00000357916.4_Missense_Mutation_p.P61S|MAGEA12_ENST00000393869.3_Missense_Mutation_p.P61S|CSAG4_ENST00000361201.4_RNA NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 61 breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CTGTGGGGAGGACTTGGTGAC 0.597000 156 1 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154033433 154033433 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:154033433G>A ENST00000368559.3 - 19 2804 c.2733C>T c.(2731-2733)aaC>aaT p.N911N NUP210L_ENST00000271854.3_Silent_p.N911N NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 911 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CATCAGGGTGGTTATAGATGG 0.363000 89 22 0 0 1 0 0 ZNF547 284306 broad.mit.edu 37 19 57883188 57883188 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr19:57883188C>T ENST00000282282.3 + 3 213 c.63C>T c.(61-63)tcC>tcT p.S21S AC003002.4_ENST00000597658.1_Silent_p.S21S NM_173631.2 NP_775902.2 Q8IVP9 ZN547_HUMAN zinc finger protein 547 21 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TATATTTCTCCCAGGAGGAGT 0.463000 95 67 0 0 1 0 0 LRP6 4040 broad.mit.edu 37 12 12300330 12300330 + Missense_Mutation SNP G G T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr12:12300330G>T ENST00000261349.4 - 15 3443 c.3367C>A c.(3367-3369)Ctc>Atc p.L1123I LRP6_ENST00000543091.1_Missense_Mutation_p.L1123I NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 1123 Beta-propeller 4. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) ATTCGCCGGAGATCTGAATCA 0.408000 84 94 6.04572e-29 6.21136e-29 1 1 0 ANLN 54443 broad.mit.edu 37 7 36462323 36462323 + Missense_Mutation SNP A A G TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:36462323A>G ENST00000265748.2 + 14 2602 c.2381A>G c.(2380-2382)cAa>cGa p.Q794R ANLN_ENST00000396068.2_Missense_Mutation_p.Q757R NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 794 Localization to the cleavage furrow. 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 GCTAGTCCCCAAAGTGAATTT 0.398000 118 93 0 0 1 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24524205 24524205 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr20:24524205G>A ENST00000376862.3 + 2 1105 c.472G>A c.(472-474)Gag>Aag p.E158K NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 158 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 GGAGTTCCAGGAGCTGGAGGT 0.532000 59 210 0 0 1 0 0 PSAPL1 768239 broad.mit.edu 37 4 7435762 7435762 + Missense_Mutation SNP T T C TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr4:7435762T>C ENST00000319098.4 - 1 938 c.845A>G c.(844-846)aAa>aGa p.K282R SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron NM_001085382.1 NP_001078851.1 Q6NUJ1 SAPL1_HUMAN prosaposin-like 1 (gene/pseudogene) 282 sphingolipid metabolic process extracellular region|lysosome lung(4) 4 CTCGCTCTGTTTCCTTGGCAA 0.597000 50 10 0 0 1 0 0 PARP1 142 broad.mit.edu 37 1 226576422 226576422 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:226576422C>T ENST00000366794.5 - 5 795 c.652G>A c.(652-654)Gaa>Aaa p.E218K NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 218 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) TTCGCCACTTCATCCACTCCA 0.438000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 14 141 0 0 1 0 0 ZNF410 57862 broad.mit.edu 37 14 74364841 74364841 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr14:74364841C>T ENST00000555044.1 + 5 650 c.456C>T c.(454-456)ttC>ttT p.F152F ZNF410_ENST00000442160.3_Silent_p.F169F|ZNF410_ENST00000324593.6_Silent_p.F152F|ZNF410_ENST00000556797.1_Silent_p.F99F|ZNF410_ENST00000334521.4_Silent_p.F99F|ZNF410_ENST00000540593.1_Silent_p.F79F|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000412490.3_3'UTR NM_001242928.1|NM_021188.2 NP_001229857.1|NP_067011.1 Q86VK4 ZN410_HUMAN zinc finger protein 410 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(234;0.00369) GGAATGATTTCCTCTCCAGTG 0.463000 30 49 0 0 1 0 0 ITGBL1 9358 broad.mit.edu 37 13 102250644 102250644 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr13:102250644G>A ENST00000376180.3 + 7 1229 c.1010G>A c.(1009-1011)gGg>gAg p.G337E ITGBL1_ENST00000545560.2_Missense_Mutation_p.G196E|ITGBL1_ENST00000376162.3_Missense_Mutation_p.G244E NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 337 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CCTTGCTCTGGGAGGGGTAAG 0.507000 6 18 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 375960 375960 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr19:375960C>T ENST00000342640.4 - 1 53 c.11G>A c.(10-12)aGc>aAc p.S4N THEG_ENST00000346878.2_Missense_Mutation_p.S4N NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 4 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CCTTCGCCTGCTGTCCCCCAT 0.682000 9 24 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111617273 111617273 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:111617273C>T ENST00000428084.1 - 8 887 c.615G>A c.(613-615)caG>caA p.Q205Q DOCK4_ENST00000437633.1_Silent_p.Q205Q|DOCK4_ENST00000476846.1_5'UTR Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 205 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) GGCTCTTCATCTGGACAAAGA 0.522000 22 20 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56086328 56086328 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr11:56086328C>T ENST00000312711.1 + 1 546 c.546C>T c.(544-546)ctC>ctT p.L182L NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) GTGACAGTCTCCCTTTGTTAC 0.333000 29 6 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62455986 62455986 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:62455986G>A ENST00000371158.2 + 28 3931 c.3817G>A c.(3817-3819)Gga>Aga p.G1273R INADL_ENST00000545929.1_5'UTR|INADL_ENST00000543708.1_Missense_Mutation_p.G57R|INADL_ENST00000316485.6_Missense_Mutation_p.G1273R NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1273 PDZ 7. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 TAACCCGGAAGGACCTGCTGC 0.438000 71 18 0 0 1 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74835098 74835098 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:74835098C>T ENST00000370895.1 + 18 1834 c.1799C>T c.(1798-1800)tCc>tTc p.S600F TNNI3K_ENST00000326637.3_Missense_Mutation_p.S499F|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.S600F|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000370891.2_Missense_Mutation_p.S600F|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.S600F Q59H18 TNI3K_HUMAN 499 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding ACCTACTGCTCCAAGTCAGAT 0.468000 71 14 0 0 1 0 0 MC3R 4159 broad.mit.edu 37 20 54824268 54824268 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr20:54824268G>A ENST00000243911.2 + 1 481 c.369G>A c.(367-369)atG>atA p.M123I NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 160 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) TCGACTCCATGATCTGCATCT 0.557000 55 95 0 0 1 0 0 MAP2K3 5606 broad.mit.edu 37 17 21217491 21217491 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr17:21217491G>A ENST00000342679.4 + 12 1242 c.993G>A c.(991-993)aaG>aaA p.K331K MAP2K3_ENST00000361818.5_Silent_p.K302K|MAP2K3_ENST00000316920.6_Silent_p.K302K NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 331 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) ACAAAACCAAGAAGACGGACA 0.622000 135 261 0 0 1 0 0 ACSL5 51703 broad.mit.edu 37 10 114158660 114158660 + Splice_Site SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr10:114158660G>A ENST00000393081.1 + 3 465 c.156_splice c.e3-1 p.G53_splice ACSL5_ENST00000479936.1_3'UTR|ACSL5_ENST00000354273.4_Splice_Site_p.G53_splice|ACSL5_ENST00000354655.4_Splice_Site_p.G53_splice|ACSL5_ENST00000356116.1_Splice_Site_p.G109_splice|ACSL5_ENST00000433418.1_Splice_Site_p.G53_splice NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 53 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) GTGTCTTAGGGAGGAGCACGG 0.438000 47 4 0 0 1 0 0 RIN3 79890 broad.mit.edu 37 14 93119107 93119107 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr14:93119107C>T ENST00000216487.7 + 6 1872 c.1713C>T c.(1711-1713)ccC>ccT p.P571P RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 571 endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) AGAAGAAGCCCTCCATGATCC 0.597000 16 41 0 0 1 0 0 NDNL2 56160 broad.mit.edu 37 15 29561213 29561213 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr15:29561213G>A ENST00000332303.4 - 1 820 c.697C>T c.(697-699)Ctg>Ttg p.L233L FAM189A1_ENST00000261275.4_Intron NM_138704.3 NP_619649.1 Q96MG7 MAGG1_HUMAN necdin-like 2 233 MAGE. regulation of growth cytoplasm|nucleus breast(3)|large_intestine(2)|lung(3) 8 all_lung(180;4.69e-11)|Breast(32;0.0013) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CGGTATTCCAGGTAACGCTGT 0.517000 68 54 0 0 1 0 0 ELP2 55250 broad.mit.edu 37 18 33718315 33718315 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr18:33718315C>T ENST00000358232.6 + 4 434 c.371C>T c.(370-372)cCt>cTt p.P124L ELP2_ENST00000423854.2_Missense_Mutation_p.P124L|ELP2_ENST00000350494.6_Missense_Mutation_p.P124L|ELP2_ENST00000442325.2_Missense_Mutation_p.P124L|ELP2_ENST00000351393.6_Missense_Mutation_p.P124L|ELP2_ENST00000542824.1_Missense_Mutation_p.P124L NM_018255.2 NP_060725.1 Q6IA86 ELP2_HUMAN elongator acetyltransferase complex subunit 2 124 regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2) 30 ACATCAGATCCTGCATTATGT 0.448000 73 45 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174717 63174717 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr14:63174717C>T ENST00000322893.7 - 11 2744 c.2476G>A c.(2476-2478)Gaa>Aaa p.E826K KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 826 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTCCAGTCTTCCTTTTTCTCC 0.433000 25 46 0 0 1 0 0 FOPNL 123811 broad.mit.edu 37 16 15978037 15978037 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:15978037C>T ENST00000255759.6 - 2 83 c.54G>A c.(52-54)aaG>aaA p.K18K FOPNL_ENST00000575744.1_Intron|FOPNL_ENST00000575073.1_Silent_p.K18K|FOPNL_ENST00000573968.1_Silent_p.K18K|FOPNL_ENST00000573396.1_Silent_p.K18K|FOPNL_ENST00000573429.1_Silent_p.K18K NM_144600.2 NP_653201.1 Q96NB1 FOPNL_HUMAN FGFR1OP N-terminal like 18 Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites. cilium assembly|microtubule anchoring centriolar satellite|microtubule basal body|motile cilium identical protein binding breast(1)|large_intestine(1)|lung(5)|stomach(4) 11 CTAATACCCCCTTTTTTTCCA 0.378000 14 3 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21229252 21229252 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr2:21229252G>A ENST00000233242.1 - 26 10615 c.10488C>T c.(10486-10488)acC>acT p.T3496T NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3496 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) CATCTCCTTTGGTAGATGACT 0.438000 88 9 0 0 1 0 0 GTF2IRD2 84163 broad.mit.edu 37 7 74211431 74211431 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:74211431G>A ENST00000405086.2 - 16 2609 c.2420C>T c.(2419-2421)cCc>cTc p.P807L GTF2IRD2_ENST00000451013.2_Missense_Mutation_p.P354L NM_173537.2 NP_775808.2 Q86UP8 GTD2A_HUMAN GTF2I repeat domain containing 2 807 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1) 11 tttcagggtgggaaagtgggc 0.488000 194 140 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101597174 101597174 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr15:101597174G>A ENST00000284395.5 + 29 4837 c.4437G>A c.(4435-4437)ccG>ccA p.P1479P RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Silent_p.P1482P Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1482 Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GCATCCGCCCGGTTCTGGGGC 0.612000 24 128 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94741786 94741786 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr14:94741786C>T ENST00000304338.3 + 24 2679 c.2525C>T c.(2524-2526)tCc>tTc p.S842F NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 842 cytoplasm|protein serine/threonine phosphatase complex protein binding p.S842F(1) NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 CCGAGTACTTCCCGTGGGACA 0.448000 26 59 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50453359 50453359 + Nonsense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr19:50453359C>T ENST00000447370.2 - 11 2055 c.1965G>A c.(1963-1965)tgG>tgA p.W655* SIGLEC11_ENST00000426971.2_Nonsense_Mutation_p.W559*|CTC-326K19.6_ENST00000451973.1_Intron NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 655 cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CCGCAGGCTCCCAGAGCCTCA 0.657000 17 15 0 0 1 0 0 ZNF699 374879 broad.mit.edu 37 19 9407126 9407126 + Silent SNP A A G TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr19:9407126A>G ENST00000591998.1 - 6 1182 c.954T>C c.(952-954)tgT>tgC p.C318C ZNF699_ENST00000308650.3_Silent_p.C318C Q32M78 ZN699_HUMAN zinc finger protein 699 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GTGAGGAGGAACAACTGAAGG 0.418000 21 33 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179428362 179428362 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr2:179428362G>A ENST00000589042.1 - 326 82721 c.82497C>T c.(82495-82497)acC>acT p.T27499T TTN_ENST00000359218.5_Silent_p.T18559T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.T18434T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.T24931T|TTN_ENST00000342175.6_Silent_p.T18626T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T25858T|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25858 Fibronectin type-III 100. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T24929T(1)|p.T18626T(1)|p.T18434T(1) 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) CCTCAATTTCGGTACCTCCGT 0.478000 123 14 0 0 1 0 0 ERICH1 157697 broad.mit.edu 37 8 623733 623733 + Nonsense_Mutation SNP C C A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr8:623733C>A ENST00000262109.7 - 4 696 c.619G>T c.(619-621)Gag>Tag p.E207* ERICH1_ENST00000522706.1_Nonsense_Mutation_p.E113* NM_207332.1 NP_997215.1 Q86X53 ERIC1_HUMAN glutamate-rich 1 207 Glu-rich. endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) CCATCCTCCTCACAAGCCTCT 0.592000 136 35 7.73745e-69 8.11621e-69 1 1 0 POM121L9P 29774 broad.mit.edu 37 22 24659593 24659593 + RNA SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr22:24659593C>T ENST00000414583.2 + 0 3118 NR_003714.1 TCACTGACATCGAAGGCTGCC 0.632000 5 39 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12919635 12919635 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:12919635C>T ENST00000240189.2 + 3 462 c.375C>T c.(373-375)ttC>ttT p.F125F NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 125 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGTCCTGCTTCCCAGAGGCCA 0.537000 316 208 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25058824 25058824 + Missense_Mutation SNP A A G TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr13:25058824A>G ENST00000381989.3 - 12 1520 c.1415T>C c.(1414-1416)cTt>cCt p.L472P NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 472 PARP catalytic. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) CCCACTTCCAAGGTTTCCGAC 0.428000 53 180 0 0 1 0 0 TP73 7161 broad.mit.edu 37 1 3647494 3647494 + Missense_Mutation SNP C C G TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:3647494C>G ENST00000378295.4 + 12 1504 c.1349C>G c.(1348-1350)cCc>cGc p.P450R TP73_ENST00000354437.4_Missense_Mutation_p.P450R|TP73_ENST00000346387.4_Intron|TP73_ENST00000604479.1_Intron|TP73_ENST00000378280.1_Silent_p.P351P|TP73_ENST00000378288.4_Missense_Mutation_p.P401R|TP73_ENST00000378290.4_Missense_Mutation_p.P379R|TP73_ENST00000357733.3_Silent_p.P400P|TP73_ENST00000378285.1_Missense_Mutation_p.P401R|TP73_ENST00000604074.1_Intron|TP73_ENST00000603362.1_Silent_p.P400P NM_001204185.1|NM_005427.3 NP_001191114.1|NP_005418.1 O15350 P73_HUMAN tumor protein p73 450 cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) CACCCAGGCCCCGGGATGCTC 0.682000 18 8 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50584131 50584131 + Missense_Mutation SNP C C A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr22:50584131C>A ENST00000262794.5 + 19 2602 c.2519C>A c.(2518-2520)gCc>gAc p.A840D MOV10L1_ENST00000395858.3_Missense_Mutation_p.A840D|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A840D|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A820D NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 840 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GTTATTGACGCCGTCAAACCG 0.473000 93 31 4.81362e-53 5.01419e-53 1 1 0 CSAG1 158511 broad.mit.edu 37 X 151909142 151909142 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chrX:151909142C>T ENST00000370287.3 + 5 499 c.171C>T c.(169-171)ttC>ttT p.F57F CSAG1_ENST00000452779.2_Silent_p.F57F|CSAG1_ENST00000370291.2_3'UTR NM_153478.1 NP_705611.1 Q6PB30 CSAG1_HUMAN chondrosarcoma associated gene 1 57 central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TTTCCAGGTTCCCAAGACAAC 0.512000 114 4 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118344861 118344861 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr11:118344861C>T ENST00000534358.1 + 3 3010 c.2987C>T c.(2986-2988)tCt>tTt p.S996F KMT2A_ENST00000389506.5_Missense_Mutation_p.S996F|KMT2A_ENST00000354520.4_Missense_Mutation_p.S996F NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A ACTCCTTCATCTAGCACTGTT 0.498000 53 1 0 0 1 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111698383 111698383 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chrX:111698383G>A ENST00000340433.2 + 1 657 c.427G>A c.(427-429)Gaa>Aaa p.E143K NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 143 nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 CACAAAACAGGAAATCAATCC 0.428000 106 2 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54913067 54913067 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr3:54913067G>A ENST00000474759.1 + 19 1781 c.1733G>A c.(1732-1734)cGa>cAa p.R578Q CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R578Q|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R578Q|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R484Q NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 578 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.R578Q(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) ATGGTGAATCGAAAGACGGGG 0.393000 10 18 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 82070612 82070612 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr12:82070612G>A ENST00000550584.2 - 3 556 c.261C>T c.(259-261)tcC>tcT p.S87S PPFIA2_ENST00000552948.1_Silent_p.S87S|PPFIA2_ENST00000549325.1_Intron|PPFIA2_ENST00000549396.1_Silent_p.S87S|PPFIA2_ENST00000548586.1_Silent_p.S87S|PPFIA2_ENST00000333447.7_Intron NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 345 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CTCCTGTTAGGGATTCGATAT 0.423000 20 3 0 0 1 0 0 SLC27A2 11001 broad.mit.edu 37 15 50489786 50489786 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr15:50489786G>A ENST00000267842.5 + 2 800 c.568G>A c.(568-570)Ggg>Agg p.G190R SLC27A2_ENST00000544960.1_5'UTR|SLC27A2_ENST00000380902.4_Missense_Mutation_p.G190R NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 190 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) TAACACAGATGGGATTGACTC 0.403000 39 25 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77288489 77288489 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr4:77288489C>T ENST00000388914.3 - 11 1940 c.1788G>A c.(1786-1788)gaG>gaA p.E596E NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 596 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 TAATTTCTTTCTCCAGTTGAG 0.408000 68 2 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195492214 195492214 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr3:195492214G>A ENST00000463781.3 - 9 14184 c.13725C>T c.(13723-13725)ggC>ggT p.G4575G MUC4_ENST00000349607.4_Silent_p.G288G|MUC4_ENST00000346145.4_Silent_p.G339G|MUC4_ENST00000475231.1_Silent_p.G4523G NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1332 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CCTGGTTCCAGCCCCAGCTGG 0.622000 26 27 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50468176 50468176 + Missense_Mutation SNP T T C TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:50468176T>C ENST00000331340.3 + 8 1566 c.1411T>C c.(1411-1413)Ttc>Ctc p.F471L IKZF1_ENST00000343574.5_Missense_Mutation_p.F384L|IKZF1_ENST00000346667.4_Missense_Mutation_p.F241L|IKZF1_ENST00000357364.4_Missense_Mutation_p.F384L|IKZF1_ENST00000349824.4_Missense_Mutation_p.F328L|IKZF1_ENST00000439701.1_Missense_Mutation_p.F429L|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.F429L|IKZF1_ENST00000438033.1_Missense_Mutation_p.F384L NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 471 Required for binding PP1CC (By similarity). cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) CCGGGTGCTCTTCCTGGATCA 0.622000 """D,T""" BCL6 """ALL, DLBCL""" 50 33 0 0 1 0 0 ERCC5 2073 broad.mit.edu 37 13 103498695 103498695 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr13:103498695C>T ENST00000355739.4 + 1 1502 c.79C>T c.(79-81)Ctg>Ttg p.L27L BIVM-ERCC5_ENST00000602836.1_Intron|ERCC5_ENST00000535557.1_Silent_p.L27L NM_000123.3 NP_000114.2 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AGGGAAGATCCTGGCTGTTGG 0.657000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 6 30 0 0 1 0 0 NDST2 8509 broad.mit.edu 37 10 75562316 75562316 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr10:75562316C>T ENST00000299641.4 - 16 3146 c.2176G>A c.(2176-2178)Gat>Aat p.D726N NDST2_ENST00000309979.6_Missense_Mutation_p.D849N NM_003635.3 NP_003626.1 P52849 NDST2_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 849 Heparan sulfate N-sulfotransferase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Prostate(51;0.0112) CGGAAAAAATCCGTAAGGAAA 0.517000 28 2 0 0 1 0 0 KCTD9 54793 broad.mit.edu 37 8 25287476 25287476 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr8:25287476G>A ENST00000221200.4 - 12 1287 c.1067C>T c.(1066-1068)tCt>tTt p.S356F NM_017634.3 NP_060104.2 Q7L273 KCTD9_HUMAN potassium channel tetramerization domain containing 9 356 Pentapeptide repeat 3. voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1) 12 all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438) ATCACACCCAGACAGATCACA 0.408000 16 126 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9495492 9495492 + Nonsense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr3:9495492C>T ENST00000402466.1 + 18 2890 c.2122C>T c.(2122-2124)Cag>Tag p.Q708* SETD5_ENST00000402198.1_Nonsense_Mutation_p.Q806*|SETD5_ENST00000407969.1_Nonsense_Mutation_p.Q825*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.Q708*|SETD5_ENST00000406341.1_Nonsense_Mutation_p.Q806*|SETD5_ENST00000488236.1_3'UTR Q9C0A6 SETD5_HUMAN SET domain containing 5 806 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) GACTAGAACTCAGCACCTATA 0.373000 41 41 0 0 1 0 0 LRRC43 254050 broad.mit.edu 37 12 122674711 122674711 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr12:122674711G>A ENST00000339777.4 + 5 725 c.697G>A c.(697-699)Gac>Aac p.D233N LRRC43_ENST00000425921.1_Missense_Mutation_p.D48N NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 233 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) GGGCTTCAACGACCTGACAGA 0.642000 150 14 0 0 1 0 0 AKNAD1 254268 broad.mit.edu 37 1 109369912 109369912 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:109369912C>T ENST00000370001.3 - 11 2119 c.1851G>A c.(1849-1851)gtG>gtA p.V617V AKNAD1_ENST00000369994.1_Silent_p.V587V|AKNAD1_ENST00000369995.3_Silent_p.V617V|AKNAD1_ENST00000357393.4_Silent_p.V324V NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 617 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 CCTTTTTCTCCACGTTTTGCT 0.383000 172 42 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30978850 30978850 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:30978850C>T ENST00000262519.8 + 10 3397 c.2711C>T c.(2710-2712)tCc>tTc p.S904F NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 904 Glu-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 TCGGAAATTTCCGAGGCCAGT 0.572000 74 9 0 0 1 0 0 IGLV3-21 28796 broad.mit.edu 37 22 23055591 23055591 + RNA SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr22:23055591C>T ENST00000390308.2 + 0 505 GGCTCCAACTCTGGGAACACG 0.597000 15 52 0 0 1 0 0 FAM13A 10144 broad.mit.edu 37 4 89658686 89658686 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr4:89658686C>T ENST00000264344.5 - 21 2790 c.2583G>A c.(2581-2583)cgG>cgA p.R861R FAM13A_ENST00000503556.1_Silent_p.R521R|FAM13A_ENST00000513837.1_Silent_p.R507R|FAM13A_ENST00000508369.1_Silent_p.R535R|FAM13A_ENST00000395002.2_Intron|FAM13A_ENST00000511976.1_Silent_p.R447R NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 861 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 AAGGGCTTCTCCGCTTGCTGG 0.537000 59 11 0 0 1 0 0 FBXW8 26259 broad.mit.edu 37 12 117383244 117383244 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr12:117383244C>T ENST00000455858.2 + 3 374 c.301C>T c.(301-303)Ccg>Tcg p.P101S FBXW8_ENST00000309909.5_Missense_Mutation_p.P167S NM_012174.1|NM_153348.2 NP_036306.1|NP_699179.2 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 167 protein binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 22 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) AGGGCACCTTCCGGATAGCAG 0.522000 47 1 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62038002 62038002 + Missense_Mutation SNP T T C TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr20:62038002T>C ENST00000354587.3 - 17 2814 c.2638A>G c.(2638-2640)Aag>Gag p.K880E KCNQ2_ENST00000370226.1_Missense_Mutation_p.K842E|KCNQ2_ENST00000357249.2_Missense_Mutation_p.K854E|KCNQ2_ENST00000344462.3_Missense_Mutation_p.K868E|KCNQ2_ENST00000359125.2_Missense_Mutation_p.K872E|KCNQ2_ENST00000430658.1_Missense_Mutation_p.K841E|KCNQ2_ENST00000360480.3_Missense_Mutation_p.K844E|KCNQ2_ENST00000359689.1_Missense_Mutation_p.K872E|KCNQ2_ENST00000370224.1_Missense_Mutation_p.K880E O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 872 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CCGCCTCACTTCCTGGGCCCG 0.716000 17 16 0 0 1 0 0 TP73 7161 broad.mit.edu 37 1 3647495 3647495 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:3647495C>T ENST00000357733.3 + 11 1311 c.1201C>T c.(1201-1203)Cgg>Tgg p.R401W TP73_ENST00000378295.4_Silent_p.P450P|TP73_ENST00000354437.4_Silent_p.P450P|TP73_ENST00000346387.4_Intron|TP73_ENST00000604479.1_Intron|TP73_ENST00000378280.1_Missense_Mutation_p.R352W|TP73_ENST00000378288.4_Silent_p.P401P|TP73_ENST00000378290.4_Silent_p.P379P|TP73_ENST00000378285.1_Silent_p.P401P|TP73_ENST00000604074.1_Intron|TP73_ENST00000603362.1_Missense_Mutation_p.R401W NM_001204187.1 NP_001191116.1 O15350 P73_HUMAN tumor protein p73 401 cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) ACCCAGGCCCCGGGATGCTCA 0.682000 18 8 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 81 71 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140517378 140517378 + Missense_Mutation SNP T T G TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr5:140517378T>G ENST00000231134.5 + 1 2579 c.2362T>G c.(2362-2364)Ttc>Gtc p.F788V NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 788 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACTGCTGCCTTCCGGAATAG 0.473000 94 10 0 0 1 0 0 C1orf186 440712 broad.mit.edu 37 1 206241635 206241635 + Missense_Mutation SNP C C G TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:206241635C>G ENST00000331555.5 - 4 792 c.154G>C c.(154-156)Gtt>Ctt p.V52L NM_001007544.1 NP_001007545.1 Q6ZWK4 CA186_HUMAN chromosome 1 open reading frame 186 52 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 BRCA - Breast invasive adenocarcinoma(75;0.0754) GGCCTGGGAACCTGGAGACTG 0.552000 25 76 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76124678 76124678 + Missense_Mutation SNP C C T rs145500939 byFrequency TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr6:76124678C>T ENST00000393004.2 - 2 232 c.11G>A c.(10-12)cGa>cAa p.R4Q FILIP1_ENST00000237172.7_Missense_Mutation_p.R4Q Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 4 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 ACCTTGGTTTCGAGATCTCAT 0.388000 74 4 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19554704 19554704 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr3:19554704C>T ENST00000328405.2 + 13 2588 c.2322C>T c.(2320-2322)tcC>tcT p.S774S NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 774 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 GGTCAAATTCCCCCAAAACCA 0.468000 59 40 0 0 1 0 0 UNKL 64718 broad.mit.edu 37 16 1448894 1448894 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:1448894G>A ENST00000301712.5 - 6 842 c.783C>T c.(781-783)aaC>aaT p.N261N UNKL_ENST00000508903.2_Intron|UNKL_ENST00000397462.1_Intron|UNKL_ENST00000389221.4_Intron NM_001037125.2 NP_001032202.1 Q9H9P5 UNKL_HUMAN unkempt family zinc finger-like 0 cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Hepatocellular(780;0.0893) CGACCCTTGGGTTGTTGGCCC 0.662000 5 0 0 0 1 0 0 PIDD 55367 broad.mit.edu 37 11 801464 801464 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr11:801464G>A ENST00000347755.5 - 8 1604 c.1463C>T c.(1462-1464)cCt>cTt p.P488L PIDD_ENST00000411829.2_Missense_Mutation_p.P488L NM_145886.3|NM_145887.3 NP_665893.2|NP_665894.2 Q9HB75 PIDD_HUMAN p53-induced death domain protein 488 ZU5 2. apoptosis|signal transduction cytoplasm|nucleus death receptor binding GACTCGACGAGGCTCCTCAGT 0.667000 8 0 0 0 1 0 0 TP73 7161 broad.mit.edu 37 1 3647493 3647493 + Missense_Mutation SNP C C G TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:3647493C>G ENST00000378295.4 + 12 1503 c.1348C>G c.(1348-1350)Ccc>Gcc p.P450A TP73_ENST00000354437.4_Missense_Mutation_p.P450A|TP73_ENST00000346387.4_Intron|TP73_ENST00000604479.1_Intron|TP73_ENST00000378280.1_Missense_Mutation_p.P351R|TP73_ENST00000378288.4_Missense_Mutation_p.P401A|TP73_ENST00000378290.4_Missense_Mutation_p.P379A|TP73_ENST00000357733.3_Missense_Mutation_p.P400R|TP73_ENST00000378285.1_Missense_Mutation_p.P401A|TP73_ENST00000604074.1_Intron|TP73_ENST00000603362.1_Missense_Mutation_p.P400R NM_001204185.1|NM_005427.3 NP_001191114.1|NP_005418.1 O15350 P73_HUMAN tumor protein p73 450 cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) TCACCCAGGCCCCGGGATGCT 0.677000 18 8 0 0 1 0 0 TRGV8 6982 broad.mit.edu 37 7 38370472 38370472 + RNA SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:38370472G>A ENST00000390343.2 - 0 64 AAGAGGAGCAGAAGACCCTCT 0.512000 40 38 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 4 147 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24826600 24826600 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:24826600G>A ENST00000395799.3 + 19 4934 c.4805G>A c.(4804-4806)gGc>gAc p.G1602D CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_Missense_Mutation_p.G80D|TNRC6A_ENST00000315183.7_Missense_Mutation_p.G1553D NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1602 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCGCCTAACGGCTCTAGCAGT 0.433000 67 2 0 0 1 0 0 ACSS2 55902 broad.mit.edu 37 20 33501951 33501951 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr20:33501951G>A ENST00000360596.2 + 6 907 c.696G>A c.(694-696)gaG>gaA p.E232E ACSS2_ENST00000336325.4_Silent_p.E182E|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Silent_p.E232E NM_018677.3 NP_061147.1 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 232 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGGCTGACGAGGCCCTGCAGA 0.542000 54 26 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73269904 73269904 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr10:73269904G>A ENST00000224721.6 + 3 216 c.211G>A c.(211-213)Ggg>Agg p.G71R CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000398809.4_Missense_Mutation_p.G71R|CDH23_ENST00000461841.3_Missense_Mutation_p.G116R|CDH23_ENST00000299366.7_Missense_Mutation_p.G116R|CDH23_ENST00000398842.3_Missense_Mutation_p.G71R NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 71 Cadherin 1. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TGGCGTGTCTGGGGAGGAGGC 0.587000 52 7 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19749133 19749133 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr19:19749133C>T ENST00000203556.4 - 9 761 c.624G>A c.(622-624)gaG>gaA p.E208E GMIP_ENST00000445806.2_Silent_p.E208E|GMIP_ENST00000587238.1_Silent_p.E208E NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 208 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CCTGCACCGCCTCATTCTGGG 0.657000 14 6 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38357409 38357409 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr13:38357409C>T ENST00000379705.3 - 2 919 c.62G>A c.(61-63)aGg>aAg p.R21K TRPC4_ENST00000358477.2_Missense_Mutation_p.R21K|TRPC4_ENST00000379679.1_Missense_Mutation_p.R21K|TRPC4_ENST00000338947.5_Missense_Mutation_p.R21K|TRPC4_ENST00000379681.3_Missense_Mutation_p.R21K|TRPC4_ENST00000355779.2_Missense_Mutation_p.R21K|TRPC4_ENST00000379673.2_Missense_Mutation_p.R21K|TRPC4_ENST00000447043.1_Missense_Mutation_p.R21K|TRPC4_ENST00000426868.2_Missense_Mutation_p.R21K Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 21 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TCTTACTATCCTTAGAGGGAT 0.413000 53 141 0 0 1 0 0 C6orf195 154386 broad.mit.edu 37 6 2623770 2623770 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr6:2623770G>A ENST00000296847.3 - 3 810 c.287C>T c.(286-288)aCa>aTa p.T96I NM_152554.2 NP_689767.2 Q96MT4 CF195_HUMAN chromosome 6 open reading frame 195 96 cervix(1)|endometrium(1)|lung(2)|skin(1) 5 Ovarian(93;0.0412) all_hematologic(90;0.0895) CTTGAAGGGTGTGGGACCCGT 0.567000 44 56 0 0 1 0 0 SERPIND1 3053 broad.mit.edu 37 22 21134267 21134267 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr22:21134267G>A ENST00000215727.5 + 2 950 c.667G>A c.(667-669)Gac>Aac p.D223N PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.D223N NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 223 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) GTCAGTCAATGACCTTTATAT 0.443000 71 24 0 0 1 0 0 PHOX2B 8929 broad.mit.edu 37 4 41750553 41750553 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr4:41750553G>A ENST00000226382.2 - 1 434 c.75C>T c.(73-75)agC>agT p.S25S RP11-227F19.1_ENST00000508038.1_RNA NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 25 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 CTGAAGCCAGGCTCGAGGTGT 0.522000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 4 21 0 0 1 0 0 CPA4 51200 broad.mit.edu 37 7 129950821 129950821 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:129950821G>A ENST00000222482.4 + 9 1016 c.988G>A c.(988-990)Gaa>Aaa p.E330K CPA4_ENST00000493259.1_Missense_Mutation_p.E226K|CPA4_ENST00000445470.2_Missense_Mutation_p.E297K NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 330 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) AGATGCCGAGGAACTCGTGAG 0.572000 113 115 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93499706 93499706 + Silent SNP T T C TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr15:93499706T>C ENST00000394196.4 + 16 2895 c.1827T>C c.(1825-1827)atT>atC p.I609I CHD2_ENST00000557381.1_Silent_p.I609I NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 609 Helicase ATP-binding. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TGGGCAGTATTAACTGGGCCT 0.418000 42 58 0 0 1 0 0 AP2A1 160 broad.mit.edu 37 19 50303397 50303397 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr19:50303397C>T ENST00000354293.5 + 11 1611 c.1445C>T c.(1444-1446)aCc>aTc p.T482I AP2A1_ENST00000359032.5_Missense_Mutation_p.T482I NM_130787.2 NP_570603.2 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 subunit 482 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2) 19 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) GCCGCCAAGACCGTCTTTGAG 0.632000 9 10 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56297152 56297152 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr19:56297152C>T ENST00000443188.1 - 12 3651 c.2941G>A c.(2941-2943)Gaa>Aaa p.E981K NLRP11_ENST00000592953.1_Missense_Mutation_p.E882K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E927K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E981K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E927K NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 981 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GACCAAGTTTCAGACAGAAAG 0.398000 11 33 0 0 1 0 0 NOD1 10392 broad.mit.edu 37 7 30491125 30491125 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:30491125G>A ENST00000222823.4 - 6 2433 c.1908C>T c.(1906-1908)ccC>ccT p.P636P NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 636 activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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 basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 CCTGAACGCGGGGCAGGCTCT 0.637000 23 36 0 0 1 0 0 KRT80 144501 broad.mit.edu 37 12 52579308 52579308 + Missense_Mutation SNP C C T rs142483540 TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr12:52579308C>T ENST00000313234.5 - 2 461 c.364G>A c.(364-366)Gac>Aac p.D122N KRT80_ENST00000394815.2_Missense_Mutation_p.D122N NM_001081492.1 NP_001074961.1 Q6KB66 K2C80_HUMAN keratin 80 122 Linker 1.|Rod. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) ATGGCTGAGTCCTGGCCCTGC 0.637000 50 3 0 0 1 0 0 IGFBP1 3484 broad.mit.edu 37 7 45931560 45931560 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:45931560C>T ENST00000275525.3 + 3 845 c.549C>T c.(547-549)gtC>gtT p.V183V IGFBP1_ENST00000468955.1_Intron|IGFBP1_ENST00000457280.1_Silent_p.V183V NM_000596.2 NP_000587.1 P08833 IBP1_HUMAN insulin-like growth factor binding protein 1 183 Thyroglobulin type-1. V -> I (in dbSNP:rs1065782). extracellular space insulin-like growth factor binding large_intestine(2)|lung(4) 6 TCTACAGAGTCGTAGAGAGTT 0.413000 OREG0018048 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 34 0 0 1 0 0 ADAM32 203102 broad.mit.edu 37 8 39079180 39079180 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr8:39079180G>A ENST00000379907.4 + 13 1412 c.1285G>A c.(1285-1287)Gga>Aga p.G429R ADAM32_ENST00000519315.1_Missense_Mutation_p.G323R|ADAM32_ENST00000437682.2_Missense_Mutation_p.G330R NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 429 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) ACTGAAAGACGGAGCAAAATG 0.338000 3 34 0 0 1 0 0 SLTM 79811 broad.mit.edu 37 15 59225615 59225615 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr15:59225615G>A ENST00000380516.2 - 1 237 c.150C>T c.(148-150)tcC>tcT p.S50S SLTM_ENST00000536328.1_5'UTR|SLTM_ENST00000557950.1_5'UTR NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 50 SAP. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCTTGAGTCGGGAGATGAGCA 0.642000 10 28 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7700520 7700520 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:7700520C>T ENST00000303635.7 + 7 778 c.571C>T c.(571-573)Cct>Tct p.P191S CAMTA1_ENST00000439411.2_Missense_Mutation_p.P191S NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CTGCGGCAAGCCTTGCGGCCC 0.597000 T WWTR1 epitheliod hemangioendothelioma 14 156 0 0 1 0 0 MAP2K7 5609 broad.mit.edu 37 19 7975228 7975228 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr19:7975228C>T ENST00000545011.1 + 4 608 c.543C>T c.(541-543)ttC>ttT p.F181F MAP2K7_ENST00000397979.3_Silent_p.F139F|MAP2K7_ENST00000397981.3_Silent_p.F139F|MAP2K7_ENST00000397983.3_Silent_p.F155F O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 139 Protein kinase. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) AGATGCGCTTCCGGAAGACCG 0.667000 12 6 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7516792 7516792 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:7516792C>T ENST00000399429.3 - 14 1324 c.1184G>A c.(1183-1185)gGa>gAa p.G395E NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 395 Collagen-like 3. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TCCTGGTACTCCCTCAGGACC 0.498000 15 36 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61767069 61767069 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr8:61767069C>T ENST00000423902.2 + 32 7402 c.6923C>T c.(6922-6924)tCg>tTg p.S2308L CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2308 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TTTGCCTTCTCGTTTTGGCCT 0.423000 96 2 0 0 1 0 0 HLA-V 352962 broad.mit.edu 37 6 29761676 29761676 + RNA SNP C C G TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr6:29761676C>G ENST00000457107.1 + 0 902 gagagggtttcatattcaaga 0.493000 5 17 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54825248 54825248 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr15:54825248G>A ENST00000545554.1 + 25 5680 c.5680G>A c.(5680-5682)Gat>Aat p.D1894N UNC13C_ENST00000260323.11_Missense_Mutation_p.D1894N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1892N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1894 MHD2. 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) ATCTCTTATGGATTTTTTGGA 0.343000 9 5 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2538422 2538422 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:2538422C>T ENST00000288709.6 - 7 835 c.595G>A c.(595-597)Gag>Aag p.E199K MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Missense_Mutation_p.E208K NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 208 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CCTACGGTCTCGTTCCACCTG 0.642000 18 116 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106208495 106208495 + RNA SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr14:106208495C>T ENST00000390548.2 - 0 404 TCCGGGAGATCATGAGGGTGT 0.602000 27 63 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114508862 114508862 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:114508862C>T ENST00000369558.1 + 11 2581 c.2349C>T c.(2347-2349)gcC>gcT p.A783A HIPK1_ENST00000406344.1_Silent_p.A389A|HIPK1_ENST00000340480.4_Silent_p.A409A|HIPK1_ENST00000369553.1_Silent_p.A389A|HIPK1_ENST00000369554.2_Silent_p.A738A|HIPK1_ENST00000369555.2_Silent_p.A738A|HIPK1_ENST00000369559.4_Silent_p.A783A|HIPK1_ENST00000369561.4_Silent_p.A749A|HIPK1_ENST00000426820.2_Silent_p.A783A Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 783 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) 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) TTCCAGAGGCCATGGGGAGTG 0.542000 4 53 0 0 1 0 0 OR52J3 119679 broad.mit.edu 37 11 5068609 5068609 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr11:5068609C>T ENST00000380370.1 + 1 854 c.854C>T c.(853-855)cCa>cTa p.P285L NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGATTATCCCACCCTCTCTC 0.383000 50 5 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62289219 62289219 + Missense_Mutation SNP G G A rs143211270 by1000genomes TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr8:62289219G>A ENST00000519846.1 + 4 983 c.511G>A c.(511-513)Gaa>Aaa p.E171K CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.E171K Q8IUQ0 CLVS1_HUMAN clavesin 1 171 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.E171K(1) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 AGTCCTAATCGAAGATCCGGA 0.438000 101 4 0 0 1 0 0 APCDD1 147495 broad.mit.edu 37 18 10471920 10471920 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr18:10471920C>T ENST00000355285.4 + 3 990 c.636C>T c.(634-636)atC>atT p.I212I APCDD1_ENST00000578882.1_Intron|APCDD1_ENST00000584596.1_3'UTR NM_153000.4 NP_694545.1 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 212 hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 READ - Rectum adenocarcinoma(15;0.08) TTCAGCTCATCCGGGTGGAGA 0.572000 204 155 0 0 1 0 0 VTRNA2-1 100126299 broad.mit.edu 37 5 135416251 135416251 + RNA SNP G G C TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr5:135416251G>C ENST00000602301.1 - 0 35 NR_030583.2 AGAAAGTCCGGCATGAGGAGG 0.512000 41 2 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179428363 179428363 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr2:179428363G>A ENST00000589042.1 - 326 82720 c.82496C>T c.(82495-82497)aCc>aTc p.T27499I TTN_ENST00000359218.5_Missense_Mutation_p.T18559I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T18434I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T24931I|TTN_ENST00000342175.6_Missense_Mutation_p.T18626I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T25858I|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25858 Fibronectin type-III 100. 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) CTCAATTTCGGTACCTCCGTC 0.478000 125 14 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50584132 50584132 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr22:50584132C>T ENST00000262794.5 + 19 2603 c.2520C>T c.(2518-2520)gcC>gcT p.A840A MOV10L1_ENST00000395858.3_Silent_p.A840A|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Silent_p.A840A|MOV10L1_ENST00000540615.1_Silent_p.A820A NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 840 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TTATTGACGCCGTCAAACCGT 0.478000 95 33 0 0 1 0 0 FRMD7 90167 broad.mit.edu 37 X 131212014 131212014 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chrX:131212014G>A ENST00000298542.4 - 12 2206 c.2031C>T c.(2029-2031)atC>atT p.I677I FRMD7_ENST00000464296.1_Silent_p.I662I|FRMD7_ENST00000370879.1_Silent_p.I557I NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 677 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) AAGACAGGCGGATTCTGGCCA 0.403000 101 3 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186692926 186692926 + Splice_Site SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr2:186692926G>A ENST00000343098.5 + 21 20784 c.20784_splice c.e21+1 p.K6928_splice FSIP2_ENST00000424728.1_Splice_Site_p.K6839_splice NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 ACAGTGTTAAGGTAAGTATTT 0.333000 40 5 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40054016 40054016 + Missense_Mutation SNP G G T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr20:40054016G>T ENST00000373233.3 - 29 4325 c.4148C>A c.(4147-4149)cCa>cAa p.P1383Q NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1383 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CGATTTGTCTGGGTCGGAGCC 0.488000 39 27 8.69298e-16 8.78079e-16 1 1 0 MIR1185-2 100302209 broad.mit.edu 37 14 101510585 101510585 + RNA SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr14:101510585G>A ENST00000408687.1 + 0 51 NR_031571.1 GATTAATGGCGAATATACAGG 0.507000 3 9 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204985602 204985602 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:204985602G>A ENST00000367172.4 + 32 4307 c.3979G>A c.(3979-3981)Gaa>Aaa p.E1327K NFASC_ENST00000367171.4_Missense_Mutation_p.E1312K|NFASC_ENST00000338515.6_Missense_Mutation_p.E1237K|NFASC_ENST00000367170.4_Missense_Mutation_p.E1248K|NFASC_ENST00000338586.6_Missense_Mutation_p.E1204K|NFASC_ENST00000404076.1_Missense_Mutation_p.E1137K|NFASC_ENST00000367169.4_Missense_Mutation_p.E1051K|NFASC_ENST00000539706.1_Missense_Mutation_p.E1154K|NFASC_ENST00000360049.4_Missense_Mutation_p.E1149K|NFASC_ENST00000401399.1_Missense_Mutation_p.E1220K|NFASC_ENST00000513543.1_Missense_Mutation_p.E1149K|NFASC_ENST00000339876.6_Missense_Mutation_p.E1220K|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404907.1_Missense_Mutation_p.E1154K O94856 NFASC_HUMAN neurofascin 1327 axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GGACAAGGAGGAAACAGAGGG 0.567000 16 121 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140406896 140406896 + Nonsense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr3:140406896C>T ENST00000286349.3 + 3 1563 c.1372C>T c.(1372-1374)Cag>Tag p.Q458* NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 458 COS. intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GGACGGCATCCAGACCACCTA 0.572000 9 35 0 0 1 0 0 ZXDB 158586 broad.mit.edu 37 X 57619097 57619097 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chrX:57619097G>A ENST00000374888.1 + 1 829 c.616G>A c.(616-618)Ggg>Agg p.G206R NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.G206R(2) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 CCAGCAGCCCGGGTGTCTGAT 0.711000 3 30 0 0 1 0 0 ZNF174 7727 broad.mit.edu 37 16 3452367 3452367 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:3452367G>A ENST00000268655.4 + 1 948 c.363G>A c.(361-363)gtG>gtA p.V121V ZNF174_ENST00000572544.1_Silent_p.V121V|ZNF174_ENST00000571936.1_Silent_p.V121V|ZNF174_ENST00000344823.5_Silent_p.V121V|ZNF174_ENST00000575752.1_Silent_p.V121V|LA16c-306E5.2_ENST00000575785.1_RNA NM_003450.2 NP_003441.1 Q15697 ZN174_HUMAN zinc finger protein 174 121 SCAN box. negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 TGACCCTCGTGGAAGATTTTC 0.488000 111 136 0 0 1 0 0 ZNF174 7727 broad.mit.edu 37 16 3452368 3452368 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:3452368G>A ENST00000268655.4 + 1 949 c.364G>A c.(364-366)Gaa>Aaa p.E122K ZNF174_ENST00000572544.1_Missense_Mutation_p.E122K|ZNF174_ENST00000571936.1_Missense_Mutation_p.E122K|ZNF174_ENST00000344823.5_Missense_Mutation_p.E122K|ZNF174_ENST00000575752.1_Missense_Mutation_p.E122K|LA16c-306E5.2_ENST00000575785.1_RNA NM_003450.2 NP_003441.1 Q15697 ZN174_HUMAN zinc finger protein 174 122 SCAN box. negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 GACCCTCGTGGAAGATTTTCA 0.488000 112 133 0 0 1 0 0 ARID3B 10620 broad.mit.edu 37 15 74836781 74836781 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr15:74836781C>T ENST00000346246.5 + 2 735 c.504C>T c.(502-504)gtC>gtT p.V168V NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 CACCTTCTGTCTCCACAGCAG 0.517000 14 57 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74973431 74973431 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr14:74973431C>T ENST00000261978.4 - 27 4389 c.4003G>A c.(4003-4005)Gag>Aag p.E1335K LTBP2_ENST00000556690.1_Missense_Mutation_p.E1291K NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1335 Cys-rich.|EGF-like 15; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGAGAGATCTCGAAGCCCTGG 0.617000 11 30 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57054642 57054642 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:57054642C>T ENST00000436936.1 + 3 243 c.18C>T c.(16-18)ctC>ctT p.L6L NLRC5_ENST00000262510.6_Silent_p.L6L|NLRC5_ENST00000308149.7_Silent_p.L6L|NLRC5_ENST00000539144.1_Silent_p.L6L Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 6 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CCGTTGGCCTCCAGCTCGGCA 0.587000 36 5 0 0 1 0 0 IGFALS 3483 broad.mit.edu 37 16 1841005 1841005 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:1841005C>T ENST00000415638.3 - 2 1607 c.1528G>A c.(1528-1530)Gag>Aag p.E510K IGFALS_ENST00000215539.3_Missense_Mutation_p.E472K NM_001146006.1|NM_004970.2 NP_001139478.1|NP_004961.1 P35858 ALS_HUMAN insulin-like growth factor binding protein, acid labile subunit 472 cell adhesion|signal transduction soluble fraction insulin-like growth factor binding endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 8 GCCGGCAGCTCTGCCAGGCGG 0.692000 45 3 0 0 1 0 0 IGLV2-14 28815 broad.mit.edu 37 22 23101700 23101700 + RNA SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr22:23101700C>T ENST00000390312.2 + 0 395 GCAGCACTCTCCACAGTGGTC 0.582000 26 138 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11038789 11038789 + RNA SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr21:11038789C>T ENST00000470054.1 - 0 1414 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTACCCATGCCAGTTTTTTG 0.418000 23 311 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195495930 195495930 + Nonsense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr3:195495930G>A ENST00000463781.3 - 7 13951 c.13492C>T c.(13492-13494)Cag>Tag p.Q4498* MUC4_ENST00000349607.4_Nonsense_Mutation_p.Q211*|MUC4_ENST00000346145.4_Nonsense_Mutation_p.Q262*|MUC4_ENST00000475231.1_Nonsense_Mutation_p.Q4446* NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1255 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CCTGAGCGCTGGGCCACGTCC 0.627000 20 26 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30500667 30500667 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:30500667G>A ENST00000356798.6 + 11 1353 c.1173G>A c.(1171-1173)ggG>ggA p.G391G ITGAL_ENST00000568012.1_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.G308G|RP11-297C4.2_ENST00000569459.1_RNA NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 391 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) CATTTATTGGGAATGAACCAT 0.542000 65 4 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124757664 124757664 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr11:124757664C>T ENST00000306534.3 - 13 2506 c.2021G>A c.(2020-2022)gGa>gAa p.G674E RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.G529E NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 674 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) ACCTCTATTTCCTAACTCACA 0.577000 30 2 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 119064809 119064809 + Silent SNP A A G TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr4:119064809A>G ENST00000296499.5 + 6 1912 c.1509A>G c.(1507-1509)ggA>ggG p.G503G NDST3_ENST00000433996.2_Silent_p.G422G NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 503 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 TCCAAGGAGGAGAACTTTTCT 0.423000 34 2 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57809031 57809031 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr15:57809031G>A ENST00000281282.5 + 9 2535 c.2457G>A c.(2455-2457)ggG>ggA p.G819G NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 819 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) ACCAGGCGGGGACTGAAATGC 0.517000 25 18 0 0 1 0 0 GRIPAP1 56850 broad.mit.edu 37 X 48834826 48834826 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chrX:48834826G>A ENST00000376423.4 - 20 1747 c.1715C>T c.(1714-1716)tCa>tTa p.S572L GRIPAP1_ENST00000376441.1_Missense_Mutation_p.S651L|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.S620L|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.S606L NM_207672.1 NP_997555.1 Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 651 early endosome breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2) 10 GTTCATCTCTGAGAGAACCAG 0.582000 23 0 0 0 1 0 0 PER2 8864 broad.mit.edu 37 2 239171671 239171671 + Nonsense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr2:239171671G>A ENST00000254657.3 - 10 1354 c.1075C>T c.(1075-1077)Cag>Tag p.Q359* PER2_ENST00000440245.1_Nonsense_Mutation_p.Q359*|PER2_ENST00000355768.2_Intron|PER2_ENST00000254658.3_Intron NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 359 PAS 2. circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) ATCAGGTCCTGAGGTAGGTAG 0.537000 OREG0015337 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 1 0 0 1 0 0 NFKBIL1 4795 broad.mit.edu 37 6 31525421 31525421 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr6:31525421C>T ENST00000376148.4 + 3 465 c.351C>T c.(349-351)ttC>ttT p.F117F NFKBIL1_ENST00000376145.4_Silent_p.F117F NM_005007.3 NP_004998.3 Q9UBC1 IKBL1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 117 cytoplasmic sequestering of transcription factor protein binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 CCGATTTCTTCCTCCCGCTGC 0.582000 52 3 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20345224 20345224 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr14:20345224C>T ENST00000298642.2 + 1 834 c.798C>T c.(796-798)ctC>ctT p.L266L NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCAGCTTTCTCACAGACAAGA 0.403000 14 45 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 5 39 0 0 1 0 0 CYC1 1537 broad.mit.edu 37 8 145151092 145151092 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr8:145151092C>T ENST00000318911.4 + 3 465 c.392C>T c.(391-393)gCc>gTc p.A131V NM_001916.3 NP_001907.2 P08574 CY1_HUMAN cytochrome c-1 131 Cytochrome c. respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GACTTCGTGGCCTACCGCCAC 0.617000 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 308 124 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44890925 44890925 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr15:44890925G>A ENST00000261866.7 - 22 3812 c.3796C>T c.(3796-3798)Ctc>Ttc p.L1266F SPG11_ENST00000427534.2_Missense_Mutation_p.L1266F|SPG11_ENST00000558319.1_Missense_Mutation_p.L1266F|SPG11_ENST00000535302.2_Missense_Mutation_p.L1266F NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1266 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CTGAGCTTGAGGCTGTCAAGG 0.423000 31 55 0 0 1 0 0 RAD54L2 23132 broad.mit.edu 37 3 51673595 51673595 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr3:51673595C>T ENST00000409535.1 + 12 2146 c.2021C>T c.(2020-2022)tCg>tTg p.S674L RAD54L2_ENST00000296477.3_Missense_Mutation_p.S368L NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 674 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) TTGGCTTCCTCGATGGGAGAG 0.542000 17 14 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30749952 30749952 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:30749952C>T ENST00000262518.4 + 34 8976 c.8591C>T c.(8590-8592)cCc>cTc p.P2864L SRCAP_ENST00000395059.2_Missense_Mutation_p.P2802L|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2706L NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2864 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GGGAGGCCCCCCAAGAAGAAC 0.617000 61 1 0 0 1 0 0 TRGV5 6978 broad.mit.edu 37 7 38389439 38389439 + RNA SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:38389439G>A ENST00000390344.2 - 0 184 TTCCTCTCGGGGGCCTTGGAA 0.547000 10 50 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21069510 21069510 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:21069510C>T ENST00000261383.3 - 27 3820 c.3821G>A c.(3820-3822)cGa>cAa p.R1274Q DNAH3_ENST00000415178.1_Missense_Mutation_p.R1274Q NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1274 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCAGTGATTTCGAGGGACCTG 0.507000 29 2 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21078629 21078629 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:21078629C>T ENST00000261383.3 - 24 3492 c.3493G>A c.(3493-3495)Gag>Aag p.E1165K DNAH3_ENST00000415178.1_Missense_Mutation_p.E1165K NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1165 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CTCTTCTTCTCCAAGTAATCA 0.443000 47 4 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39435628 39435628 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr13:39435628G>A ENST00000280481.7 + 15 7796 c.7580G>A c.(7579-7581)cGc>cAc p.R2527H NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2527 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.R2527H(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GCTAAATTGCGCTACACAGGC 0.463000 18 62 0 0 1 0 0 CCER1 196477 broad.mit.edu 37 12 91347528 91347528 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr12:91347528C>T ENST00000358859.2 - 1 1425 c.992G>A c.(991-993)gGa>gAa p.G331E CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 ctcctcctctccctcctccac 0.547000 44 4 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190068053 190068053 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:190068053C>T ENST00000367462.3 - 8 1627 c.1396G>A c.(1396-1398)Ggc>Agc p.G466S FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.G364S NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 466 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AGCATGTAGCCGGTGTTGCAG 0.597000 149 35 0 0 1 0 0 MTMR10 54893 broad.mit.edu 37 15 31234080 31234080 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr15:31234080C>T ENST00000435680.1 - 16 2024 c.1927G>A c.(1927-1929)Ggt>Agt p.G643S MTMR10_ENST00000314404.8_Intron|MTMR10_ENST00000425768.1_3'UTR|FAN1_ENST00000362065.4_3'UTR NM_017762.2 NP_060232.2 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 643 Myotubularin phosphatase. phosphatase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) AGAATAACACCGTGCAGGTTG 0.507000 58 77 0 0 1 0 0 ARHGEF25 115557 broad.mit.edu 37 12 58007258 58007258 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr12:58007258G>A ENST00000286494.4 + 4 904 c.444G>A c.(442-444)gaG>gaA p.E148E AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Silent_p.E187E NM_182947.3 NP_891992.2 Q86VW2 ARHGP_HUMAN Rho guanine nucleotide exchange factor (GEF) 25 148 regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 28 AAGCCCCTGAGAGTGAGGAGG 0.527000 92 7 0 0 1 0 0 ZBTB5 9925 broad.mit.edu 37 9 37441866 37441866 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr9:37441866G>A ENST00000307750.4 - 2 871 c.683C>T c.(682-684)tCt>tTt p.S228F NM_014872.2 NP_055687.1 O15062 ZBTB5_HUMAN zinc finger and BTB domain containing 5 228 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 8 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) CTCCTCCCGAGAATGAACCCC 0.493000 150 7 0 0 1 0 0 SERPINB4 6318 broad.mit.edu 37 18 61305285 61305285 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr18:61305285C>T ENST00000341074.5 - 8 956 c.841G>A c.(841-843)Gat>Aat p.D281N SERPINB4_ENST00000356424.6_Missense_Mutation_p.D229N NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 AAGTGTAAATCGACACATGTC 0.403000 59 49 0 0 1 0 0 NXPE4 54827 broad.mit.edu 37 11 114453658 114453658 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr11:114453658G>A ENST00000375478.3 - 3 362 c.182C>T c.(181-183)tCa>tTa p.S61L NXPE4_ENST00000424261.2_5'UTR NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 TGGCTTTAATGATATCAGTGG 0.428000 32 109 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34192778 34192778 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:34192778G>A ENST00000297161.2 + 16 2325 c.1951G>A c.(1951-1953)Gaa>Aaa p.E651K BMPER_ENST00000426693.1_Missense_Mutation_p.E651K NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 651 TIL. 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 CAACTGGAATGAAATTGGTCC 0.517000 159 129 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 4 122 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745833 140745833 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr5:140745833G>A ENST00000518069.1 + 1 1936 c.1936G>A c.(1936-1938)Gtc>Atc p.V646I PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 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) CGTGGTGGCCGTCGAAGACCA 0.652000 4 178 0 0 1 0 0 ZNF227 7770 broad.mit.edu 37 19 44740025 44740025 + Missense_Mutation SNP T T A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr19:44740025T>A ENST00000313040.7 + 6 1647 c.1442T>A c.(1441-1443)aTt>aAt p.I481N ZNF227_ENST00000391961.2_Missense_Mutation_p.I430N|ZNF227_ENST00000589005.1_Missense_Mutation_p.I430N NM_182490.1 NP_872296.1 Q86WZ6 ZN227_HUMAN zinc finger protein 227 481 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1) 24 Prostate(69;0.0435) GATCTGCATATTCATTTCAGA 0.448000 46 33 0 0 1 0 0 TPSB2 64499 broad.mit.edu 37 16 1278604 1278604 + RNA SNP G G A rs1060321 TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:1278604G>A ENST00000430512.2 - 0 922 TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000339687.6_RNA NM_024164.5 NP_077078.5 P20231 TRYB2_HUMAN tryptase beta 2 (gene/pseudogene) proteolysis extracellular region protein binding|serine-type endopeptidase activity lung(1)|upper_aerodigestive_tract(1) 2 Hepatocellular(780;0.00369) TTTTGAACAGGAGGGGCTGGC 0.617000 69 2 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 5 98 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140773817 140773817 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr5:140773817C>T ENST00000398604.2 + 1 1437 c.1437C>T c.(1435-1437)ccC>ccT p.P479P PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACACGACCCCGACAGCCAGG 0.562000 27 2 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3613800 3613800 + RNA SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:3613800C>T ENST00000301749.7 - 0 1543 NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTTGCCTTGCCCTTCTCCTGC 0.637000 35 43 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25433264 25433264 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr13:25433264C>T ENST00000255324.5 + 26 3788 c.3736C>T c.(3736-3738)Cgt>Tgt p.R1246C RNF17_ENST00000381921.1_Missense_Mutation_p.R1246C|RNF17_ENST00000339524.3_Missense_Mutation_p.R298C NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1246 Tudor 3. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TCTGTGGTATCGTGGCAAGGT 0.393000 14 44 0 0 1 0 0 HSD11B1 3290 broad.mit.edu 37 1 209879168 209879168 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:209879168G>A ENST00000367028.2 + 3 270 c.101G>A c.(100-102)gGa>gAa p.G34E RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Missense_Mutation_p.G34E|HSD11B1_ENST00000367027.3_Missense_Mutation_p.G34E NM_001206741.1 NP_001193670.1 P28845 DHI1_HUMAN hydroxysteroid (11-beta) dehydrogenase 1 34 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 16 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) ATGCTCCAAGGAAAGAAAGTG 0.517000 15 101 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160479976 160479976 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr6:160479976C>T ENST00000356956.1 + 22 3085 c.2937C>T c.(2935-2937)atC>atT p.I979I NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 979 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GTGGGACCATCCTGGGAAAAC 0.498000 41 6 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 26 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481888 142481888 + RNA SNP T T C rs138077672 by1000genomes TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:142481888T>C ENST00000603901.1 + 0 567 NR_001296.3 TGGGCTTCCTTGAGGGAGGCA 0.522000 4 84 0 0 1 0 0 HPCA 3208 broad.mit.edu 37 1 33354560 33354560 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:33354560G>A ENST00000373467.3 + 2 163 c.61G>A c.(61-63)Gag>Aag p.E21K HPCA_ENST00000480118.1_3'UTR NM_002143.2 NP_002134.2 P84074 HPCA_HUMAN hippocalcin 21 E -> D (in dbSNP:rs11554958). actin binding|calcium ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) AGAGAACACAGAGTTCTCAGA 0.587000 88 18 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7026079 7026079 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr18:7026079G>A ENST00000389658.3 - 17 2394 c.2301C>T c.(2299-2301)gtC>gtT p.V767V NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 767 Laminin EGF-like 6. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTCACAGTGGACGCCGGTGG 0.557000 20 9 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57054643 57054643 + Nonsense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr16:57054643C>T ENST00000436936.1 + 3 244 c.19C>T c.(19-21)Cag>Tag p.Q7* NLRC5_ENST00000262510.6_Nonsense_Mutation_p.Q7*|NLRC5_ENST00000308149.7_Nonsense_Mutation_p.Q7*|NLRC5_ENST00000539144.1_Nonsense_Mutation_p.Q7* Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 7 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CGTTGGCCTCCAGCTCGGCAA 0.582000 36 5 0 0 1 0 0 TSPAN7 7102 broad.mit.edu 37 X 38535027 38535027 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chrX:38535027C>T ENST00000378482.2 + 5 687 c.510C>T c.(508-510)atC>atT p.I170I TSPAN7_ENST00000545599.1_Silent_p.I144I|TSPAN7_ENST00000422612.2_Silent_p.I196I|TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000286824.6_Silent_p.I187I|TM4SF2_ENST00000465127.1_Silent_p.I200I NM_004615.3 NP_004606.2 P41732 TSN7_HUMAN tetraspanin 7 170 interspecies interaction between organisms integral to plasma membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 11 AGCATGGCATCCCCCCCAGCT 0.498000 58 4 0 0 1 0 0 LRRC49 54839 broad.mit.edu 37 15 71193335 71193335 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr15:71193335C>T ENST00000260382.5 + 4 528 c.268C>T c.(268-270)Ctt>Ttt p.L90F LRRC49_ENST00000443425.2_Missense_Mutation_p.L46F|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.L80F|LRRC49_ENST00000560369.1_Missense_Mutation_p.L95F|LRRC49_ENST00000560691.1_5'UTR NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 90 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 AGAGAAAATTCTTTACTCAGA 0.318000 20 31 0 0 1 0 0 NDNL2 56160 broad.mit.edu 37 15 29561214 29561214 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr15:29561214G>A ENST00000332303.4 - 1 819 c.696C>T c.(694-696)taC>taT p.Y232Y FAM189A1_ENST00000261275.4_Intron NM_138704.3 NP_619649.1 Q96MG7 MAGG1_HUMAN necdin-like 2 232 MAGE. regulation of growth cytoplasm|nucleus breast(3)|large_intestine(2)|lung(3) 8 all_lung(180;4.69e-11)|Breast(32;0.0013) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GGTATTCCAGGTAACGCTGTC 0.522000 68 54 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946336 16946336 + RNA SNP G G A rs11586784 by1000genomes TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:16946336G>A ENST00000412962.1 - 0 1183 CAGGGCTCACGAACCTGCTGC 0.662000 4 25 0 0 1 0 0 GLE1 2733 broad.mit.edu 37 9 131289773 131289773 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr9:131289773C>T ENST00000309971.4 + 9 1387 c.1281C>T c.(1279-1281)acC>acT p.T427T GLE1_ENST00000372770.4_Silent_p.T427T|GLE1_ENST00000494417.1_3'UTR|GLE1_ENST00000539582.1_Silent_p.T173T NM_001003722.1 NP_001003722.1 Q53GS7 GLE1_HUMAN GLE1 RNA export mediator 427 poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear pore protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 16 AGGCTGCTACCATCCCAGTGA 0.433000 19 5 0 0 1 0 0 RBM26 64062 broad.mit.edu 37 13 79940872 79940872 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr13:79940872G>A ENST00000438737.2 - 7 1471 c.1031C>T c.(1030-1032)cCt>cTt p.P344L RBM26_ENST00000267229.7_Missense_Mutation_p.P344L|RBM26_ENST00000438724.1_Missense_Mutation_p.P344L Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 344 Pro-rich. mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GGGGAGTCCAGGAGGAGGTGG 0.547000 20 53 0 0 1 0 0 TRGV3 6976 broad.mit.edu 37 7 38398594 38398594 + RNA SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:38398594G>A ENST00000390346.2 - 0 169 TTCCTCTCGGGGGCCTTGGAA 0.537000 5 30 0 0 1 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86915857 86915857 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr4:86915857G>A ENST00000395184.1 + 9 1516 c.1050G>A c.(1048-1050)caG>caA p.Q350Q ARHGAP24_ENST00000395183.2_Silent_p.Q255Q|ARHGAP24_ENST00000264343.4_Silent_p.Q257Q NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 350 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) ATGAAATTCAGAAGAAAGCCA 0.468000 127 14 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 81251256 81251256 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr14:81251256G>A ENST00000555265.1 - 15 2569 c.2194C>T c.(2194-2196)Cat>Tat p.H732Y CEP128_ENST00000281129.3_Missense_Mutation_p.H732Y Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 732 H -> R (in dbSNP:rs327463). centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 GTCCTGATATGATTCTCAGCC 0.373000 13 31 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71978208 71978208 + Silent SNP G G A rs151206916 TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr12:71978208G>A ENST00000266674.5 + 18 2729 c.2418G>A c.(2416-2418)ctG>ctA p.L806L LGR5_ENST00000540815.2_Silent_p.L782L|LGR5_ENST00000536515.1_Silent_p.L734L O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 806 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 TTATCCTTCTGGTGGTAGTCC 0.433000 59 6 0 0 1 0 0 FAM115A 9747 broad.mit.edu 37 7 143573381 143573381 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:143573381G>A ENST00000479870.1 - 2 529 c.321C>T c.(319-321)ggC>ggT p.G107G FAM115A_ENST00000355951.2_Silent_p.G107G|FAM115A_ENST00000392900.3_Intron NM_001206938.1|NM_001206941.1|NM_014719.2 NP_001193867.1|NP_001193870.1|NP_055534.1 Q9Y4C2 F115A_HUMAN family with sequence similarity 115, member A 107 NS(1)|endometrium(1)|lung(5) 7 Melanoma(164;0.0903) CCACTCCAGAGCCCTCGAGGA 0.537000 97 72 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94772502 94772502 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr14:94772502C>T ENST00000341584.3 - 4 1084 c.938G>A c.(937-939)gGa>gAa p.G313E NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 313 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) CAGCACATCTCCGAGGTCATA 0.527000 22 13 0 0 1 0 0 C3orf84 646498 broad.mit.edu 37 3 49215235 49215235 + Missense_Mutation SNP G G T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr3:49215235G>T ENST00000545770.2 - 4 535 c.449C>A c.(448-450)tCc>tAc p.S150Y C3orf84_ENST00000432035.2_Missense_Mutation_p.S151Y|C3orf84_ENST00000443990.1_5'UTR NM_001080528.2 NP_001073997.2 chromosome 3 open reading frame 84 GCCACCCTGGGATGGGCAGCA 0.632000 8 16 0.00448238 0.00449737 1 1 0 LPAR4 2846 broad.mit.edu 37 X 78010772 78010772 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chrX:78010772C>T ENST00000435339.2 + 2 811 c.406C>T c.(406-408)Cgt>Tgt p.R136C LPAR4_ENST00000373301.2_Missense_Mutation_p.R136C NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 136 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TAGTGTGGATCGTTTCCTGGC 0.483000 130 2 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101944593 101944593 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr13:101944593G>A ENST00000251127.6 - 8 1005 c.924C>T c.(922-924)ttC>ttT p.F308F NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.F308F NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 308 integral to membrane sodium channel activity|voltage-gated ion channel activity p.F308L(1) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCCAGGCGAGGAAGAAAATGA 0.468000 13 29 0 0 1 0 0 EVC2 132884 broad.mit.edu 37 4 5642312 5642312 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr4:5642312C>T ENST00000310917.2 - 10 1890 c.1159G>A c.(1159-1161)Gaa>Aaa p.E387K EVC2_ENST00000344408.5_Missense_Mutation_p.E467K|EVC2_ENST00000344938.1_Missense_Mutation_p.E467K NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 467 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 TACTGGTTTTCCATCTTCTTT 0.453000 217 80 0 0 1 0 0 FOXRED2 80020 broad.mit.edu 37 22 36897386 36897386 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr22:36897386G>A ENST00000397224.4 - 5 1211 c.1118C>T c.(1117-1119)tCc>tTc p.S373F FOXRED2_ENST00000216187.6_Missense_Mutation_p.S373F|FOXRED2_ENST00000397223.4_Missense_Mutation_p.S373F NM_001102371.1 NP_001095841.1 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 373 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GCTTCCTTTGGATTCGTAGCT 0.527000 8 63 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644566 20644566 + RNA SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr15:20644566G>A ENST00000428453.1 - 0 3187 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 AAGGGAGACGGCCACCCACCT 0.622000 3 2 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32621447 32621447 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr8:32621447C>T ENST00000338921.4 + 13 1991 c.1474C>T c.(1474-1476)Cca>Tca p.P492S NRG1_ENST00000287845.5_Missense_Mutation_p.P455S|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287840.5_Missense_Mutation_p.P484S|NRG1_ENST00000287842.3_Missense_Mutation_p.P481S|NRG1_ENST00000519301.1_Missense_Mutation_p.P434S|NRG1_ENST00000356819.4_Missense_Mutation_p.P489S|NRG1_ENST00000405005.2_Missense_Mutation_p.P484S|NRG1_ENST00000539990.1_Missense_Mutation_p.P327S Q02297 NRG1_HUMAN neuregulin 1 484 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CGTGACACCACCAAGGCTGCG 0.572000 23 114 0 0 1 0 0 MMP1 4312 broad.mit.edu 37 11 102661500 102661500 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr11:102661500G>A ENST00000315274.6 - 9 1301 c.1234C>T c.(1234-1236)Ccc>Tcc p.P412S WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 412 Hemopexin-like 3. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) ATCATTTTGGGATAACCTGGA 0.363000 55 8 0 0 1 0 0 CYC1 1537 broad.mit.edu 37 8 145151093 145151093 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr8:145151093C>T ENST00000318911.4 + 3 466 c.393C>T c.(391-393)gcC>gcT p.A131A NM_001916.3 NP_001907.2 P08574 CY1_HUMAN cytochrome c-1 131 Cytochrome c. respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACTTCGTGGCCTACCGCCACC 0.622000 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 310 123 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140773813 140773813 + Missense_Mutation SNP A A G TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr5:140773813A>G ENST00000398604.2 + 1 1433 c.1433A>G c.(1432-1434)gAc>gGc p.D478G PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTGCACACGACCCCGACAGC 0.547000 23 1 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 361463 361463 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr3:361463G>A ENST00000256509.2 + 3 646 c.4G>A c.(4-6)Gag>Aag p.E2K CHL1_ENST00000397491.2_Missense_Mutation_p.E2K NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 2 axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) AAGAGCAATGGAGCCGCTTTT 0.373000 5 18 0 0 1 0 0 PSMA4 5685 broad.mit.edu 37 15 78841258 78841258 + Missense_Mutation SNP A A G TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr15:78841258A>G ENST00000044462.7 + 9 908 c.758A>G c.(757-759)gAa>gGa p.E253G PSMA4_ENST00000559082.1_Missense_Mutation_p.E253G|PSMA4_ENST00000558281.1_3'UTR|PSMA4_ENST00000560217.1_Missense_Mutation_p.E222G|PSMA4_ENST00000558094.1_3'UTR|PSMA4_ENST00000558341.1_3'UTR|PSMA4_ENST00000413382.2_Missense_Mutation_p.E182G NM_002789.4 NP_002780.1 P25789 PSA4_HUMAN proteasome (prosome, macropain) subunit, alpha type, 4 253 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 GAGAAGAAAGAAAAAGAACAG 0.368000 14 41 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47045856 47045856 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr3:47045856G>A ENST00000450053.3 + 37 6350 c.6171G>A c.(6169-6171)gaG>gaA p.E2057E NBEAL2_ENST00000383740.2_Silent_p.E336E|NBEAL2_ENST00000292309.5_Silent_p.E1873E NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 2057 BEACH. binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CCCCCCAGGAGATGCTGCGTG 0.652000 41 24 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83361376 83361376 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chrX:83361376C>T ENST00000262752.2 - 15 1369 c.1362G>A c.(1360-1362)gtG>gtA p.V454V RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Silent_p.V454V NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 454 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 ACAATACCTTCACTGCAAATT 0.363000 24 0 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167272464 167272464 + Missense_Mutation SNP A A T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr3:167272464A>T ENST00000453925.2 - 6 967 c.933T>A c.(931-933)gaT>gaA p.D311E WDR49_ENST00000479765.1_Intron|WDR49_ENST00000308378.3_Intron|WDR49_ENST00000476376.1_Intron Q8IV35 WDR49_HUMAN WD repeat domain 49 255 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 ATGAGGCATAATCATACCTCT 0.338000 37 33 0 0 1 0 0 FABP6 2172 broad.mit.edu 37 5 159626162 159626162 + Missense_Mutation SNP C C A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr5:159626162C>A ENST00000393980.4 + 2 195 c.49C>A c.(49-51)Cag>Aag p.Q17K FABP6_ENST00000393982.1_Missense_Mutation_p.Q17K|CTB-127C13.1_ENST00000501818.1_RNA NM_001130958.1 NP_001124430.1 P51161 FABP6_HUMAN fatty acid binding protein 6, ileal 0 bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation cytosol transporter activity breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGCGCTGACTCAGGTAGctcc 0.577000 OREG0016998 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 12 8.20599e-20 8.34507e-20 1 1 0 RNASEH2A 10535 broad.mit.edu 37 19 12920946 12920946 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr19:12920946C>T ENST00000221486.4 + 5 567 c.473C>T c.(472-474)cCc>cTc p.P158L NM_006397.2 NP_006388.2 O75792 RNH2A_HUMAN ribonuclease H2, subunit A 158 DNA replication|RNA catabolic process nucleus|ribonuclease H2 complex metal ion binding|ribonuclease H activity|RNA binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 14 CAAAGTTTTCCCGGGATTGAG 0.537000 63 34 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186692927 186692927 + Splice_Site SNP G G T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr2:186692927G>T ENST00000343098.5 + 21 20784 c.e21+1 FSIP2_ENST00000424728.1_Splice_Site NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CAGTGTTAAGGTAAGTATTTT 0.333000 40 5 8.20599e-20 8.34507e-20 1 1 0 UBXN11 91544 broad.mit.edu 37 1 26620817 26620817 + Silent SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr1:26620817G>A ENST00000374222.1 - 9 902 c.438C>T c.(436-438)ttC>ttT p.F146F UBXN11_ENST00000374217.2_Silent_p.F113F|UBXN11_ENST00000436301.2_Silent_p.F71F|UBXN11_ENST00000535108.1_5'UTR|UBXN11_ENST00000374221.3_Silent_p.F146F|UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000357089.4_Silent_p.F113F Q5T124 UBX11_HUMAN UBX domain protein 11 146 cytoplasm|cytoskeleton endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 AGTCACTGAGGAACCGCTGTG 0.622000 59 27 0 0 1 0 0 SLTM 79811 broad.mit.edu 37 15 59225614 59225614 + Nonsense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr15:59225614G>A ENST00000380516.2 - 1 238 c.151C>T c.(151-153)Cga>Tga p.R51* SLTM_ENST00000536328.1_5'UTR|SLTM_ENST00000557950.1_5'UTR NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 51 SAP. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TGCTTGAGTCGGGAGATGAGC 0.642000 10 27 0 0 1 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45502766 45502766 + Silent SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr21:45502766C>T ENST00000291574.4 + 14 1996 c.1821C>T c.(1819-1821)tgC>tgT p.C607C NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 607 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 GCGTTTTGTGCGTTGAGATAA 0.502000 21 221 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529439 5529439 + Missense_Mutation SNP A A C TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr11:5529439A>C ENST00000311659.4 - 2 1497 c.1350T>G c.(1348-1350)gaT>gaG p.D450E HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 450 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTTGGCAGAATCTCCCAGCC 0.542000 57 2 0 0 1 0 0 OR4K13 390433 broad.mit.edu 37 14 20502305 20502305 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr14:20502305G>A ENST00000315693.2 - 1 614 c.613C>T c.(613-615)Ctc>Ttc p.L205F NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AGTGACAGGAGCCCACTGTCA 0.478000 24 29 0 0 1 0 0 AOC4P 90586 broad.mit.edu 37 17 41020498 41020498 + RNA SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr17:41020498G>A ENST00000585538.1 + 0 1337 NR_002773.1 CCCATGGGGTGGACTGCCCCT 0.547000 20 1 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107433700 107433700 + Missense_Mutation SNP G G T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chrX:107433700G>T ENST00000394872.2 - 20 1582 c.1351C>A c.(1351-1353)Cac>Aac p.H451N COL4A6_ENST00000545689.1_Missense_Mutation_p.H450N|COL4A6_ENST00000538570.1_Missense_Mutation_p.H450N|COL4A6_ENST00000372216.4_Missense_Mutation_p.H451N|COL4A6_ENST00000334504.7_Missense_Mutation_p.H450N Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 451 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 TCTTTGTTGTGTAGAGTTTCA 0.428000 Alport syndrome with Diffuse Leiomyomatosis 73 3 6.20995e-33 6.40201e-33 1 1 0 ESRP1 54845 broad.mit.edu 37 8 95677189 95677189 + Nonsense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr8:95677189C>T ENST00000433389.2 + 8 980 c.790C>T c.(790-792)Cga>Tga p.R264* ESRP1_ENST00000454170.2_Nonsense_Mutation_p.R264*|ESRP1_ENST00000423620.2_Nonsense_Mutation_p.R264*|ESRP1_ENST00000358397.5_Nonsense_Mutation_p.R264* NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 264 RRM 1. mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 TGCTCAGGGTCGAAGGAACGG 0.443000 142 68 0 0 1 0 0 EPAS1 2034 broad.mit.edu 37 2 46602930 46602930 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr2:46602930C>T ENST00000263734.3 + 8 1498 c.988C>T c.(988-990)Cgc>Tgc p.R330C NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 330 PAC. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) CTACAACCCTCGCAACCTGCA 0.607000 93 2 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416564 105416564 + Missense_Mutation SNP G G A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr14:105416564G>A ENST00000333244.5 - 7 5343 c.5224C>T c.(5224-5226)Ccc>Tcc p.P1742S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1742 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGCACCTTGGGGAGGTGCCCT 0.647000 54 126 0 0 1 0 0 B3GNT8 374907 broad.mit.edu 37 19 41931804 41931804 + Missense_Mutation SNP C C T TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr19:41931804C>T ENST00000321702.2 - 3 1333 c.880G>A c.(880-882)Gag>Aag p.E294K CTC-435M10.6_ENST00000598887.1_RNA NM_198540.2 NP_940942.1 Q7Z7M8 B3GN8_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 294 poly-N-acetyllactosamine biosynthetic process|protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2) 11 AAGAAGGACTCGGGCACATAG 0.677000 11 31 0 0 1 0 0 GALNT14 79623 broad.mit.edu 37 2 31215756 31215756 + Nonsense_Mutation SNP C C A TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr2:31215756C>A ENST00000349752.5 - 2 886 c.247G>T c.(247-249)Gag>Tag p.E83* GALNT14_ENST00000356174.3_Nonsense_Mutation_p.E83*|GALNT14_ENST00000420311.2_Nonsense_Mutation_p.E48*|GALNT14_ENST00000406653.1_Nonsense_Mutation_p.E63*|GALNT14_ENST00000324589.5_Intron NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 83 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) CGCTCACTCTCCCGCTGGTTG 0.562000 129 5 3.21211e-60 3.35761e-60 1 1 0 FGF10 2255 broad.mit.edu 37 5 44388715 44388717 + In_Frame_Del DEL AGC AGC - TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr5:44388715_44388717delAGC ENST00000264664.4 - 1 182_184 c.68_70delGCT c.(67-72)ttt>t p.CF23del NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 23 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) AGCAACAAAAAGCAGCAGCAGCA 0.537 10 245 --- --- --- --- CARD11 84433 broad.mit.edu 37 7 2963941 2963943 + In_Frame_Del DEL GGA GGA - TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr7:2963941_2963943delGGA ENST00000396946.4 - 15 2267_2269 c.1864_1866delTCC c.(1864-1866)del p.S622del NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 622 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CGGATTGGTGGGAGGAGGAGGAG 0.616 Mis DLBCL 7 195 --- --- --- --- TRPM3 80036 broad.mit.edu 37 9 73213394 73213418 + Frame_Shift_Del DEL GGAGACGGATATACCAGTAAATGAT GGAGACGGATATACCAGTAAATGAT - rs148097532 TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr9:73213394_73213418delGGAGACGGATATACCAGTAAATGAT ENST00000377110.2 - 20 3172_3196 c.2929_2953delATCATTTACTGGTATATCCGTCTCC c.(2929-2955)tafs p.IIYWYIRLL977fs TRPM3_ENST00000423814.3_Frame_Shift_Del_p.IIYWYIRLL1004fs|TRPM3_ENST00000377105.1_Frame_Shift_Del_p.IIYWYIRLL836fs|TRPM3_ENST00000408909.2_Frame_Shift_Del_p.IIYWYIRLL836fs|TRPM3_ENST00000358082.3_Frame_Shift_Del_p.IIYWYIRLL839fs|TRPM3_ENST00000396280.5_Frame_Shift_Del_p.IIYWYIRLL826fs|TRPM3_ENST00000377111.2_Frame_Shift_Del_p.IIYWYIRLL977fs|TRPM3_ENST00000357533.2_Frame_Shift_Del_p.IIYWYIRLL981fs|TRPM3_ENST00000396285.1_Frame_Shift_Del_p.IIYWYIRLL824fs|TRPM3_ENST00000360823.2_Frame_Shift_Del_p.IIYWYIRLL839fs|TRPM3_ENST00000396292.4_Frame_Shift_Del_p.IIYWYIRLL849fs|TRPM3_ENST00000377106.1_Frame_Shift_Del_p.IIYWYIRLL849fs NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1002 integral to membrane calcium channel activity p.I982I(1)|p.R987S(1)|p.R855S(1)|p.I854I(1)|p.R983S(1)|p.I986I(1) NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 AAGATGTCTAGGAGACGGATATACCAGTAAATGATGTTCACGCAG 0.467 39 42 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48919328 48919329 + Frame_Shift_Ins INS - - TGGA rs66624868 TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr13:48919328_48919329insTGGA ENST00000267163.4 + 4 631_632 c.493_494insTGGA c.(493-495)ggafs p.G165fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 165 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTTCAGCAAATTGGAAAGGTAA 0.287 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 13 5 --- --- --- --- JAG2 3714 broad.mit.edu 37 14 105612178 105612178 + Frame_Shift_Del DEL C C - TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr14:105612178delC ENST00000331782.3 - 23 3245 c.2842delG c.(2842-2844)agfs p.E948fs JAG2_ENST00000347004.2_Frame_Shift_Del_p.E910fs NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 948 auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) GCGCCGCACTCCCCCCAGGCC 0.687 2 4 --- --- --- --- CCDC144B 284047 broad.mit.edu 37 17 18498059 18498060 + RNA INS - - A rs66528329 TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr17:18498059_18498060insA ENST00000442583.1 - 0 898_899 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CTAAGTTGTTCATCAGCAACAT 0.406 13 3 --- --- --- --- KLF2 10365 broad.mit.edu 37 19 16436208 16436208 + Frame_Shift_Del DEL C C - TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr19:16436208delC ENST00000248071.5 + 2 364 c.257delC c.(256-258)gcfs p.A86fs KLF2_ENST00000592003.1_Intron NM_016270.2 NP_057354.1 Q9Y5W3 KLF2_HUMAN Kruppel-like factor 2 86 positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1) 5 CCCTACAGCGCCCCCGCGGGT 0.796 2 4 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-FW-A5DX-01A-11D-A27K-08 TCGA-FW-A5DX-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cddbac5-d6ce-4d22-bca1-576e53b630ab 07231680-60b4-4fe7-8bda-94265e521b8e g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 7 94 --- --- --- ---