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 FANCA 2175 broad.mit.edu 37 16 89849495 89849495 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr16:89849495G>A ENST00000389301.3 - 16 1516 c.1486C>T c.(1486-1488)Cca>Tca p.P496S FANCA_ENST00000568369.1_Missense_Mutation_p.P496S NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 496 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) ACCAGGGGTGGGTGGAGAATG 0.587000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 19 10 0 0 0.000175454 0 0 DNAJB5 25822 broad.mit.edu 37 9 34996725 34996725 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr9:34996725C>T ENST00000541010.1 + 2 3687 c.675C>T c.(673-675)atC>atT p.I225I DNAJB5_ENST00000335998.3_Silent_p.I259I|DNAJB5_ENST00000453597.3_Silent_p.I339I|DNAJB5_ENST00000545841.1_Silent_p.I225I|DNAJB5_ENST00000312316.5_Silent_p.I225I|DNAJB5_ENST00000454002.2_Silent_p.I297I O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 225 protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(32;0.00575) GCACCAAGATCACCTTCCCCA 0.567000 11 9 0 0 0.00010058 0 0 CASR 846 broad.mit.edu 37 3 121973101 121973101 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr3:121973101C>T ENST00000498619.1 + 2 503 c.65C>T c.(64-66)cCa>cTa p.P22L CASR_ENST00000296154.5_Missense_Mutation_p.P22L|CASR_ENST00000490131.1_Missense_Mutation_p.P22L NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 22 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GCCTACGGGCCAGACCAGCGA 0.537000 46 64 0 0 0.000147903 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76501288 76501288 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr16:76501288C>T ENST00000307431.8 + 11 1905 c.1520C>T c.(1519-1521)cCa>cTa p.P507L CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P435L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P459L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P511L NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 508 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TGTAAAAGTCCACTTGGTGGA 0.418000 48 14 0 0 0.000147903 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5191880 5191880 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr5:5191880C>T ENST00000274181.7 + 8 1428 c.1290C>T c.(1288-1290)acC>acT p.T430T ADAMTS16_ENST00000511368.1_Silent_p.T430T NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 430 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.T430K(2) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TGGCCTTCACCATTGCCCATG 0.443000 62 83 0 0 0.000147903 0 0 MIR573 693158 broad.mit.edu 37 4 24521913 24521913 + RNA SNP A A T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr4:24521913A>T ENST00000384964.1 - 0 0 NR_030299.1 AAACCGCTAAAGCAGCCGACA 0.393000 47 92 0 0 0.000147903 0 0 NEK5 341676 broad.mit.edu 37 13 52639643 52639643 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr13:52639643G>A ENST00000355568.4 - 22 2166 c.2027C>T c.(2026-2028)tCc>tTc p.S676F NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 676 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GGGGCAGGTGGAGGTGATGTC 0.592000 31 42 0 0 0.000227799 0 0 CNR2 1269 broad.mit.edu 37 1 24201505 24201505 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:24201505G>A ENST00000536471.1 - 3 861 c.603C>T c.(601-603)ctC>ctT p.L201L CNR2_ENST00000374472.4_Silent_p.L201L P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 201 behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) TTCCGGAAAAGAGGAAGGCGA 0.572000 13 18 0 0 0.000151284 0 0 KCNQ1 3784 broad.mit.edu 37 11 2593264 2593264 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr11:2593264C>T ENST00000155840.5 + 5 813 c.705C>T c.(703-705)atC>atT p.I235I KCNQ1_ENST00000335475.5_Silent_p.I108I NM_000218.2 NP_000209.2 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 1 235 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) TCCTGCAGATCCTGAGGATGC 0.687000 91 37 0 0 0.000147903 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870105 51870105 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr20:51870105C>T ENST00000371497.5 + 2 995 c.108C>T c.(106-108)agC>agT p.S36S TSHZ2_ENST00000603338.2_Silent_p.S33S|TSHZ2_ENST00000329613.6_Silent_p.S33S NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 36 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S36S(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) aggaggaCAGCGGTTCAGTAG 0.527000 13 4 0 0 0.000151284 0 0 ROS1 6098 broad.mit.edu 37 6 117714445 117714445 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr6:117714445C>T ENST00000368508.3 - 11 1402 c.1204G>A c.(1204-1206)Gaa>Aaa p.E402K ROS1_ENST00000368507.3_Missense_Mutation_p.E411K|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 402 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GGAGTAATTTCCTCGATGTTT 0.363000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 154 306 0 0 0.000147903 0 0 ETAA1 54465 broad.mit.edu 37 2 67630986 67630986 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr2:67630986C>T ENST00000272342.5 + 5 1302 c.1172C>T c.(1171-1173)cCt>cTt p.P391L ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 391 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 GGTAGTGAACCTTTTGCTATG 0.348000 5 100 0 0 1.23904e-05 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671550 39671550 + Missense_Mutation SNP G G C TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr21:39671550G>C ENST00000398930.1 + 4 721 c.367G>C c.(367-369)Gaa>Caa p.E123Q KCNJ15_ENST00000398938.2_Missense_Mutation_p.E123Q|KCNJ15_ENST00000398932.1_Missense_Mutation_p.E123Q|KCNJ15_ENST00000398934.1_Missense_Mutation_p.E123Q|KCNJ15_ENST00000328656.3_Missense_Mutation_p.E123Q Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 123 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 CTTTTCCCTGGAATCCCAGAC 0.493000 5 104 0 0 1.23904e-05 0 0 ZNF385A 25946 broad.mit.edu 37 12 54764795 54764795 + Silent SNP C C T rs143375749 byFrequency TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr12:54764795C>T ENST00000546970.1 - 7 979 c.690G>A c.(688-690)ggG>ggA p.G230G ZNF385A_ENST00000551109.1_Silent_p.G230G|ZNF385A_ENST00000394313.2_Silent_p.G230G|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000352268.6_Silent_p.G169G|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000338010.5_Silent_p.G250G|ZNF385A_ENST00000551771.1_Silent_p.G149G Q96PM9 Z385A_HUMAN zinc finger protein 385A 230 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1) 15 CCTCTGGTTCCCCCGGGGTGG 0.597000 50 77 0 0 0.000147903 0 0 SYT15 83849 broad.mit.edu 37 10 46969424 46969424 + Missense_Mutation SNP T T A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr10:46969424T>A ENST00000374325.3 - 2 189 c.37A>T c.(37-39)Atc>Ttc p.I13F SYT15_ENST00000503753.1_Missense_Mutation_p.I13F|SYT15_ENST00000374321.4_Missense_Mutation_p.I13F|SYT15_ENST00000374323.3_Intron NM_181519.2 NP_852660.1 Q9BQS2 SYT15_HUMAN synaptotagmin XV 13 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 AGCCCCCCGATGGTGCCCCCA 0.637000 7 2 0 0 0.000157383 0 0 SCN9A 6335 broad.mit.edu 37 2 167138193 167138193 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr2:167138193C>T ENST00000375387.4 - 13 2443 c.2103G>A c.(2101-2103)gtG>gtA p.V701V SCN9A_ENST00000409435.1_Silent_p.V700V|SCN9A_ENST00000303354.6_Silent_p.V701V|SCN9A_ENST00000409672.1_Silent_p.V689V|AC010127.3_ENST00000447809.2_RNA Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 700 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) ACATACCTTCCACAGTGTTTG 0.348000 38 32 0 0 0.000228196 0 0 GCNT4 51301 broad.mit.edu 37 5 74324725 74324725 + Missense_Mutation SNP G G C TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr5:74324725G>C ENST00000322348.4 - 1 1999 c.1138C>G c.(1138-1140)Ccc>Gcc p.P380A NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 380 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) GTACAACTGGGATAGAAAAAG 0.428000 31 29 0 0 0.000227799 0 0 ANK3 288 broad.mit.edu 37 10 61835300 61835300 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr10:61835300G>A ENST00000280772.1 - 37 5530 c.5339C>T c.(5338-5340)tCa>tTa p.S1780L ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1780 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AGAAACATATGACCTGAGTGG 0.473000 47 36 0 0 0.000147903 0 0 LRP5 4041 broad.mit.edu 37 11 68192666 68192666 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr11:68192666C>T ENST00000294304.7 + 15 3439 c.3333C>T c.(3331-3333)ctC>ctT p.L1111L NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1111 Beta-propeller 4. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCACCGGCCTCATCCGCCCTG 0.637000 17 6 0 0 9.7654e-05 0 0 RHPN2 85415 broad.mit.edu 37 19 33493205 33493205 + Missense_Mutation SNP G G C rs150626917 by1000genomes TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr19:33493205G>C ENST00000254260.3 - 9 1088 c.1053C>G c.(1051-1053)caC>caG p.H351Q RHPN2_ENST00000400226.4_Missense_Mutation_p.H200Q NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 351 BRO1. signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) GGGCCGCGTAGTGGTGGGCCT 0.632000 4 39 0 0 0.000157383 0 0 PHOX2B 8929 broad.mit.edu 37 4 41750451 41750451 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr4:41750451G>A ENST00000226382.2 - 1 536 c.177C>T c.(175-177)tcC>tcT p.S59S RP11-227F19.1_ENST00000508038.1_RNA NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 59 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 CCGGCGTGAGGGAAGGGCAGC 0.622000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 14 26 0 0 0.000308642 0 0 C11orf70 85016 broad.mit.edu 37 11 101929619 101929619 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr11:101929619C>T ENST00000434758.2 + 3 229 c.201C>T c.(199-201)ttC>ttT p.F67F C11orf70_ENST00000534360.1_Silent_p.F67F|C11orf70_ENST00000526781.1_Silent_p.F67F NM_032930.2 NP_116319.2 Q9BRQ4 CK070_HUMAN chromosome 11 open reading frame 70 67 breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2) 12 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) AGGCTTTTTTCAAAGACCCAA 0.239000 26 10 0 0 0.000409698 0 0 MYO18B 84700 broad.mit.edu 37 22 26294364 26294364 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr22:26294364G>A ENST00000335473.7 + 29 5009 c.4759G>A c.(4759-4761)Gat>Aat p.D1587N MYO18B_ENST00000407587.2_Missense_Mutation_p.D1588N|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.D1587N|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1587 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TGACCTTGAGGATACCTGCGT 0.512000 29 100 0 0 0.000184323 0 0 DSCAM 1826 broad.mit.edu 37 21 41385240 41385240 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr21:41385240C>T ENST00000400454.1 - 33 6237 c.5760G>A c.(5758-5760)agG>agA p.R1920R NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1920 HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AGCTCAGGTCCCTGCTGGTGC 0.547000 22 44 0 0 9.22233e-05 0 0 SP140 11262 broad.mit.edu 37 2 231157400 231157400 + Missense_Mutation SNP G G T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr2:231157400G>T ENST00000392045.3 + 20 1979 c.1865G>T c.(1864-1866)tGg>tTg p.W622L SP140_ENST00000486687.2_Missense_Mutation_p.W546L|SP140_ENST00000420434.3_Missense_Mutation_p.W595L|SP140_ENST00000350136.5_Missense_Mutation_p.W491L|SP140_ENST00000417495.3_Missense_Mutation_p.W508L|SP140_ENST00000343805.6_Missense_Mutation_p.W562L NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 622 SAND. defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GATGGAAAATGGTTCACCCCC 0.517000 48 23 3.70713e-34 1.13495e-32 0.000147903 1 0 LSR 51599 broad.mit.edu 37 19 35741440 35741440 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr19:35741440G>A ENST00000602122.1 + 2 963 c.476G>A c.(475-477)gGc>gAc p.G159D LSR_ENST00000354900.3_Missense_Mutation_p.G159D|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000361790.3_Missense_Mutation_p.G159D|LSR_ENST00000360798.3_Missense_Mutation_p.G159D|LSR_ENST00000347609.4_Missense_Mutation_p.G122D|LSR_ENST00000427250.1_Missense_Mutation_p.G111D Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 159 Ig-like V-type. embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) GGGAACCCAGGCTACAACCCC 0.637000 19 19 0 0 0.000132079 0 0 GABRP 2568 broad.mit.edu 37 5 170222403 170222403 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr5:170222403C>T ENST00000518525.1 + 6 896 c.432C>T c.(430-432)tcC>tcT p.S144S GABRP_ENST00000519598.1_Silent_p.S144S|GABRP_ENST00000265294.4_Silent_p.S144S|GABRP_ENST00000519385.1_Silent_p.S144S O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 144 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCCTCTTCTCCAATGGCACGG 0.552000 24 31 0 0 0.000117367 0 0 LONRF2 164832 broad.mit.edu 37 2 100903486 100903486 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr2:100903486C>T ENST00000393437.3 - 11 2599 c.1960G>A c.(1960-1962)Gat>Aat p.D654N LONRF2_ENST00000409647.1_Missense_Mutation_p.D411N NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 654 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 TGCACAGAATCGTGGAGAGCG 0.478000 12 2 0 0 6.40141e-05 0 0 NLRP7 199713 broad.mit.edu 37 19 55450410 55450410 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr19:55450410C>T ENST00000588756.1 - 6 2263 c.1777G>A c.(1777-1779)Gaa>Aaa p.E593K NLRP7_ENST00000328092.5_Missense_Mutation_p.E593K|NLRP7_ENST00000340844.2_Missense_Mutation_p.E593K|NLRP7_ENST00000592784.1_Missense_Mutation_p.E593K|NLRP7_ENST00000448121.2_Missense_Mutation_p.E593K|NLRP7_ENST00000590030.1_Missense_Mutation_p.E593K|NLRP7_ENST00000446217.1_Missense_Mutation_p.E621K Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 593 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) ATAGAAATTTCCTTGAACGGG 0.493000 20 34 0 0 0.000132079 0 0 DNAJB11 51726 broad.mit.edu 37 3 186303137 186303137 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr3:186303137C>T ENST00000439351.1 + 11 1946 c.1017C>T c.(1015-1017)atC>atT p.I339I DNAJB11_ENST00000265028.3_Silent_p.I339I Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 339 protein folding endoplasmic reticulum lumen heat shock protein binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) CTTCAGGTATCAAACAGCTAC 0.328000 17 34 0 0 7.07596e-05 0 0 SYNE1 23345 broad.mit.edu 37 6 152746629 152746629 + Silent SNP T T C TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr6:152746629T>C ENST00000367255.5 - 39 5755 c.5154A>G c.(5152-5154)caA>caG p.Q1718Q SYNE1_ENST00000423061.1_Silent_p.Q1725Q|SYNE1_ENST00000448038.1_Silent_p.Q1725Q|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Silent_p.Q1718Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1718 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATTCCTTCAATTGCAAAAGTT 0.388000 HNSCC(10;0.0054) 30 79 0 0 0.000227799 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37488708 37488708 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr10:37488708G>A ENST00000374660.1 + 36 3058 c.2959G>A c.(2959-2961)Gat>Aat p.D987N ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D868N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D868N Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1021 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAATTCTTGGGATTCTGAGGT 0.299000 12 15 0 0 5.01169e-05 0 0 STK31 56164 broad.mit.edu 37 7 23809348 23809348 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr7:23809348C>T ENST00000354639.3 + 13 2081 c.1617C>T c.(1615-1617)gtC>gtT p.V539V STK31_ENST00000433467.2_Silent_p.V562V|STK31_ENST00000355870.3_Silent_p.V562V|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.V539V NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 562 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AGTCAAGTGTCTGCAAAGAGC 0.383000 58 105 0 0 0.000147903 0 0 ATP2A3 489 broad.mit.edu 37 17 3844872 3844872 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr17:3844872G>A ENST00000309890.7 - 13 1772 c.1622C>T c.(1621-1623)tCc>tTc p.S541F ATP2A3_ENST00000359983.3_Missense_Mutation_p.S541F|ATP2A3_ENST00000352011.3_Missense_Mutation_p.S541F|ATP2A3_ENST00000397043.3_Missense_Mutation_p.S541F|ATP2A3_ENST00000397035.3_Missense_Mutation_p.S541F|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Missense_Mutation_p.S541F NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 541 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) CTGCTCCCTGGAGGTGGGGGT 0.682000 25 19 0 0 5.49717e-05 0 0 IQCF3 401067 broad.mit.edu 37 3 51864457 51864457 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr3:51864457G>A ENST00000456080.1 + 8 1270 c.105G>A c.(103-105)aaG>aaA p.K35K IQCF3_ENST00000446775.1_Silent_p.K35K|IQCF3_ENST00000444293.1_Intron|IQCF3_ENST00000440739.2_Silent_p.K35K|IQCF3_ENST00000437810.2_Silent_p.K35K|IQCF3_ENST00000462079.1_3'UTR P0C7M6 IQCF3_HUMAN IQ motif containing F3 35 endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AAAGGGTGAAGGCAGCTGGGC 0.572000 12 37 0 0 0.000151284 0 0 ADAM29 11086 broad.mit.edu 37 4 175897512 175897512 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr4:175897512C>T ENST00000359240.3 + 5 1506 c.836C>T c.(835-837)cCc>cTc p.P279L ADAM29_ENST00000404450.4_Missense_Mutation_p.P279L|ADAM29_ENST00000514159.1_Missense_Mutation_p.P279L|ADAM29_ENST00000445694.1_Missense_Mutation_p.P279L NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 279 Peptidase M12B. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) AACATTACGCCCCGGATGCAA 0.433000 40 65 0 0 0.000228196 0 0 CABIN1 23523 broad.mit.edu 37 22 24573553 24573553 + Missense_Mutation SNP C C A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr22:24573553C>A ENST00000398319.2 + 36 6672 c.6287C>A c.(6286-6288)cCa>cAa p.P2096Q CABIN1_ENST00000263119.5_Missense_Mutation_p.P2096Q|CABIN1_ENST00000405822.2_Missense_Mutation_p.P2017Q|CABIN1_ENST00000337989.7_Missense_Mutation_p.P466Q NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 2096 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AGCTCTCCCCCAACAGCTGCC 0.662000 6 90 8.12818e-05 0.00239631 8.12818e-05 1 0 TNRC6B 23112 broad.mit.edu 37 22 40676048 40676048 + Silent SNP C C A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr22:40676048C>A ENST00000454349.2 + 10 3523 c.3312C>A c.(3310-3312)ctC>ctA p.L1104L TNRC6B_ENST00000301923.9_Silent_p.L357L|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000402203.1_Silent_p.L357L|TNRC6B_ENST00000335727.8_Silent_p.L1051L NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1104 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 CGATGAATCTCGGGGATTTTA 0.423000 8 582 0.00010058 0.00294344 0.00010058 1 0 OR2D2 120776 broad.mit.edu 37 11 6913201 6913201 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr11:6913201G>A ENST00000299459.2 - 1 629 c.531C>T c.(529-531)ttC>ttT p.F177F NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CCTCACAAAAGAAATGAGCAA 0.493000 14 6 0 0 0.000308642 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 40 0 0 0.00024832 0 0 CD163 9332 broad.mit.edu 37 12 7640410 7640410 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr12:7640410C>T ENST00000359156.4 - 7 1896 c.1694G>A c.(1693-1695)gGa>gAa p.G565E CD163_ENST00000541972.1_Missense_Mutation_p.G553E|CD163_ENST00000432237.2_Missense_Mutation_p.G565E|CD163_ENST00000396620.3_Missense_Mutation_p.G565E NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 565 SRCR 5. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GCTACAAGTTCCTTCTGGGCG 0.498000 35 49 0 0 0.000270559 0 0 LY9 4063 broad.mit.edu 37 1 160766021 160766021 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:160766021C>T ENST00000263285.5 + 1 74 c.44C>T c.(43-45)cCt>cTt p.P15L LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368039.2_Missense_Mutation_p.P15L|LY9_ENST00000368041.2_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.P15L NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 15 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GCTCCTGGGCCTTTCTCCAGT 0.493000 37 42 0 0 8.91981e-05 0 0 MMRN1 22915 broad.mit.edu 37 4 90872795 90872795 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr4:90872795G>A ENST00000394980.1 + 8 3477 c.3158G>A c.(3157-3159)gGg>gAg p.G1053E MMRN1_ENST00000508372.1_Missense_Mutation_p.G795E|MMRN1_ENST00000394981.1_Missense_Mutation_p.G356E|MMRN1_ENST00000264790.2_Missense_Mutation_p.G1053E Q13201 MMRN1_HUMAN multimerin 1 1053 EGF-like. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TGCCAAAATGGGGGCACGTGC 0.423000 19 34 0 0 9.7654e-05 0 0 ZBTB22 9278 broad.mit.edu 37 6 33284312 33284312 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr6:33284312G>A ENST00000431845.2 - 2 533 c.382C>T c.(382-384)Ctt>Ttt p.L128F ZBTB22_ENST00000418724.1_Missense_Mutation_p.L128F NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CCCACTGTAAGGAAGTTGACA 0.577000 57 121 0 0 0.000147903 0 0 DCAF11 80344 broad.mit.edu 37 14 24587609 24587609 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr14:24587609G>A ENST00000446197.3 + 7 1317 c.590G>A c.(589-591)cGa>cAa p.R197Q DCAF11_ENST00000396936.1_Missense_Mutation_p.R97Q|DCAF11_ENST00000560171.1_3'UTR|DCAF11_ENST00000559115.1_Missense_Mutation_p.R197Q|DCAF11_ENST00000396941.4_Missense_Mutation_p.R171Q NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 197 CUL4 RING ubiquitin ligase complex protein binding CAGACAATCCGACTCTATGAC 0.493000 69 120 0 0 0.000147903 0 0 OR14I1 401994 broad.mit.edu 37 1 248845069 248845069 + Silent SNP G G T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:248845069G>T ENST00000342623.3 - 1 560 c.537C>A c.(535-537)atC>atA p.I179I NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 ACACATGAGGGATGTCACGGA 0.512000 9 22 2.17888e-05 0.000652025 2.17888e-05 1 0 IL5RA 3568 broad.mit.edu 37 3 3139902 3139902 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr3:3139902C>T ENST00000446632.2 - 6 1014 c.440G>A c.(439-441)aGg>aAg p.R147K IL5RA_ENST00000430514.2_Missense_Mutation_p.R147K|IL5RA_ENST00000383846.1_Missense_Mutation_p.R147K|IL5RA_ENST00000418488.2_Missense_Mutation_p.R147K|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000256452.3_Missense_Mutation_p.R147K|IL5RA_ENST00000311981.8_Missense_Mutation_p.R147K|IL5RA_ENST00000438560.1_Missense_Mutation_p.R147K|IL5RA_ENST00000456302.1_Missense_Mutation_p.R147K NM_175726.3 NP_783853.1 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha 147 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) TTGGTATGACCTTAAACGTGA 0.413000 21 41 0 0 0.000295444 0 0 OR2G6 391211 broad.mit.edu 37 1 248685628 248685628 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:248685628G>A ENST00000343414.4 + 1 713 c.681G>A c.(679-681)agG>agA p.R227R NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTGTGTTAAGGATAAAATCAG 0.463000 67 48 0 0 0.000147903 0 0 ATRNL1 26033 broad.mit.edu 37 10 117001410 117001410 + Missense_Mutation SNP T T G TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr10:117001410T>G ENST00000355044.3 + 10 1709 c.1583T>G c.(1582-1584)cTt>cGt p.L528R NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 528 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TCAGCTGTTCTTATCAATGGA 0.358000 26 26 0 0 0.000279167 0 0 OR2F1 26211 broad.mit.edu 37 7 143657992 143657992 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr7:143657992G>A ENST00000392899.1 + 1 966 c.929G>A c.(928-930)gGg>gAg p.G310E NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) AAATTCTCTGGGTTAACATCA 0.428000 19 32 0 0 0.000175454 0 0 BRINP3 339479 broad.mit.edu 37 1 190250829 190250829 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:190250829G>A ENST00000367462.3 - 3 519 c.288C>T c.(286-288)ttC>ttT p.F96F RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_Intron|FAM5C_ENST00000534846.1_Intron NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 96 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) GAGAGCCAAGGAAATTTCTTC 0.403000 15 28 0 0 7.07596e-05 0 0 TG 7038 broad.mit.edu 37 8 133961052 133961052 + Silent SNP C C A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr8:133961052C>A ENST00000220616.4 + 27 5305 c.5265C>A c.(5263-5265)ccC>ccA p.P1755P TG_ENST00000377869.1_Silent_p.P1698P|TG_ENST00000542445.1_Silent_p.P125P NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1755 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TGAGCTCACCCAGTGTCCTGC 0.527000 7 193 0.000274275 0.00779725 0.000274275 1 0 SCN3B 55800 broad.mit.edu 37 11 123516298 123516298 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr11:123516298G>A ENST00000392770.2 - 2 1018 c.216C>T c.(214-216)ttC>ttT p.F72F SCN3B_ENST00000299333.3_Silent_p.F72F|SCN3B_ENST00000530277.1_Silent_p.F72F NM_018400.3 NP_060870.1 Q9NY72 SCN3B_HUMAN sodium channel, voltage-gated, type III, beta subunit 72 Ig-like C2-type. axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity p.F72L(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2) 26 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) AACATACAAGGAAATCTTTAC 0.572000 35 22 0 0 0.000270559 0 0 C9 735 broad.mit.edu 37 5 39285309 39285309 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr5:39285309C>T ENST00000263408.4 - 11 1767 c.1672G>A c.(1672-1674)Gaa>Aaa p.E558K NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 558 complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) CTCTATTTTTCATTGGGGAAC 0.408000 35 47 0 0 0.000374591 0 0 SPINT2 10653 broad.mit.edu 37 19 38782532 38782532 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr19:38782532C>T ENST00000301244.7 + 7 1080 c.645C>T c.(643-645)gcC>gcT p.A215A SPINT2_ENST00000587090.1_Silent_p.A165A|SPINT2_ENST00000454580.3_Silent_p.A158A|CTB-102L5.4_ENST00000591889.1_Intron NM_021102.3 NP_066925.1 O43291 SPIT2_HUMAN serine peptidase inhibitor, Kunitz type, 2 215 cellular component movement cytoplasm|extracellular region|integral to membrane|soluble fraction serine-type endopeptidase inhibitor activity large_intestine(2)|lung(1)|ovary(1) 4 all_cancers(60;6.83e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TCCTGGGAGCCTCCATGGTCT 0.632000 5 11 0 0 1.23904e-05 0 0 LRGUK 136332 broad.mit.edu 37 7 133948700 133948700 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr7:133948700C>T ENST00000285928.2 + 20 2520 c.2451C>T c.(2449-2451)ctC>ctT p.L817L NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 817 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 AACCCACCCTCCCTCCAATCC 0.502000 6 30 0 0 8.12818e-05 0 0 SNHG14 104472715 broad.mit.edu 37 15 25429507 25429507 + RNA SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr15:25429507C>T ENST00000424208.1 + 0 450 SNORD115-8_ENST00000363856.1_RNA NR_003305.1 ACTTAAAAATCATGCTCAATA 0.517000 80 60 0 0 0.000147903 0 0 S100A9 6280 broad.mit.edu 37 1 153333147 153333147 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:153333147G>A ENST00000368738.3 + 3 221 c.178G>A c.(178-180)Gaa>Aaa p.E60K NM_002965.3 NP_002956.1 P06702 S10A9_HUMAN S100 calcium binding protein A9 60 EF-hand 2. cell-cell signaling cytoplasm|cytoskeleton|nucleus|plasma membrane calcium ion binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(2) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AAAGGTCATAGAACACATCAT 0.542000 21 48 0 0 0.000375601 0 0 SEMA4B 10509 broad.mit.edu 37 15 90760690 90760690 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr15:90760690C>T ENST00000411539.2 + 2 437 c.177C>T c.(175-177)ttC>ttT p.F59F SEMA4B_ENST00000379122.3_Silent_p.F54F|SEMA4B_ENST00000332496.6_Silent_p.F59F NM_198925.2 NP_945119.1 sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1) 12 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) AGCGGCCATTCCTCAGATTCG 0.567000 11 31 0 0 3.86212e-05 0 0 FBXO42 54455 broad.mit.edu 37 1 16577944 16577944 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:16577944G>A ENST00000375592.3 - 10 1591 c.1375C>T c.(1375-1377)Cct>Tct p.P459S NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 459 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) GCCTGTACAGGACTGTCCAAA 0.542000 14 11 0 0 0.000308642 0 0 ZP2 7783 broad.mit.edu 37 16 21209114 21209114 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr16:21209114C>T ENST00000574002.1 - 19 2550 c.2068G>A c.(2068-2070)Gaa>Aaa p.E690K AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.E681K|ZP2_ENST00000219593.4_Missense_Mutation_p.E690K Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 690 binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) TCCCCTGTTTCACTCCTACTC 0.468000 58 174 0 0 0.000147903 0 0 TMEM161B 153396 broad.mit.edu 37 5 87498782 87498782 + Missense_Mutation SNP G G C TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr5:87498782G>C ENST00000296595.6 - 9 1035 c.911C>G c.(910-912)cCt>cGt p.P304R TMEM161B_ENST00000506536.1_Missense_Mutation_p.P122R|TMEM161B_ENST00000514135.1_Missense_Mutation_p.P304R|TMEM161B_ENST00000509387.1_Missense_Mutation_p.P177R|TMEM161B_ENST00000511218.1_Missense_Mutation_p.P122R|TMEM161B_ENST00000512429.1_Missense_Mutation_p.P293R NM_153354.3 NP_699185.1 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 304 integral to membrane endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1) 20 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) TACTTACAAAGGGATACTTTC 0.368000 44 76 0 0 0.000147903 0 0 PCDH17 27253 broad.mit.edu 37 13 58298998 58298998 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr13:58298998C>T ENST00000377918.3 + 4 3076 c.3050C>T c.(3049-3051)cCt>cTt p.P1017L NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1017 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AACGTTAAACCTTATTTAAAA 0.478000 24 44 0 0 0.000375601 0 0 CHD2 1106 broad.mit.edu 37 15 93492257 93492257 + Nonsense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr15:93492257C>T ENST00000394196.4 + 13 2521 c.1453C>T c.(1453-1455)Cga>Tga p.R485* CHD2_ENST00000536619.1_Nonsense_Mutation_p.R498*|CHD2_ENST00000420239.2_Nonsense_Mutation_p.R485*|CHD2_ENST00000557381.1_Nonsense_Mutation_p.R485* NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 485 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) TCTGGAACTTCGAGATTATCA 0.413000 120 79 0 0 0.000147903 0 0 PRDM1 639 broad.mit.edu 37 6 106554799 106554799 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr6:106554799G>A ENST00000369096.4 + 7 2150 c.1916G>A c.(1915-1917)aGa>aAa p.R639K PRDM1_ENST00000369089.3_Missense_Mutation_p.R505K|PRDM1_ENST00000369091.2_Missense_Mutation_p.R603K NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 639 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) TGCCACAAGAGATTTAGCAGC 0.542000 """D, N, Mis, F, S""" DLBCL 23 41 0 0 9.22233e-05 0 0 RPS15A 6210 broad.mit.edu 37 16 18796142 18796142 + Missense_Mutation SNP C C A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr16:18796142C>A ENST00000322989.4 - 4 312 c.217G>T c.(217-219)Ggg>Tgg p.G73W RPS15A_ENST00000565420.1_Missense_Mutation_p.G73W|RPS15A_ENST00000576436.1_Missense_Mutation_p.W105L|RPS15A_ENST00000575669.1_5'UTR|RPS15A_ENST00000563390.1_Missense_Mutation_p.G73W|RPS15A_ENST00000569083.1_Missense_Mutation_p.G73W NM_001019.4 NP_001010.2 P62244 RS15A_HUMAN ribosomal protein S15a 73 endocrine pancreas development|positive regulation of cell cycle|positive regulation of cell proliferation|response to virus|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome endometrium(1)|large_intestine(1) 2 CTGATCACCCCACACTATAAA 0.393000 8 234 0.000157383 0.00453903 0.000157383 1 0 OTX2 5015 broad.mit.edu 37 14 57268611 57268611 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr14:57268611G>A ENST00000339475.5 - 5 1012 c.736C>T c.(736-738)Ctt>Ttt p.L246F OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.L238F|OTX2_ENST00000408990.3_Missense_Mutation_p.L238F NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3 NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1 P32243 OTX2_HUMAN orthodenticle homeobox 2 238 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 19 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) TGGGTGGAAAGAGAAGCTGGG 0.507000 31 55 0 0 0.000109025 0 0 CCAR1 55749 broad.mit.edu 37 10 70502219 70502219 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr10:70502219C>T ENST00000265872.6 + 6 530 c.411C>T c.(409-411)tcC>tcT p.S137S CCAR1_ENST00000535016.1_Silent_p.S122S|CCAR1_ENST00000543719.1_Silent_p.S122S NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 137 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 CACCAAGGTCCAGTCAACAGC 0.438000 32 20 0 0 0.000409698 0 0 KDELC1 79070 broad.mit.edu 37 13 103449154 103449154 + Splice_Site SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr13:103449154C>T ENST00000376004.4 - 2 724 c.388_splice c.e2+1 p.G130_splice KDELC1_ENST00000460338.1_5'UTR NM_024089.2 NP_076994.2 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 130 endoplasmic reticulum lumen central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TCCAAATTACCTTTTAAAATA 0.269000 14 21 0 0 0.000219431 0 0 SCN5A 6331 broad.mit.edu 37 3 38628959 38628959 + Missense_Mutation SNP T T G TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr3:38628959T>G ENST00000413689.1 - 15 2561 c.2368A>C c.(2368-2370)Atc>Ctc p.I790L SCN5A_ENST00000450102.2_Missense_Mutation_p.I790L|SCN5A_ENST00000449557.2_Missense_Mutation_p.I790L|SCN5A_ENST00000455624.2_Missense_Mutation_p.I790L|SCN5A_ENST00000423572.2_Missense_Mutation_p.I790L|SCN5A_ENST00000443581.1_Missense_Mutation_p.I790L|SCN5A_ENST00000451551.2_Missense_Mutation_p.I790L|SCN5A_ENST00000333535.4_Missense_Mutation_p.I790L|SCN5A_ENST00000414099.2_Missense_Mutation_p.I790L|SCN5A_ENST00000425664.1_Missense_Mutation_p.I790L NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 790 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AGGCTAAGGATGACGATGATG 0.567000 9 16 0 0 0.000274275 0 0 C1QA 712 broad.mit.edu 37 1 22965688 22965688 + Missense_Mutation SNP G G A rs45454296 TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:22965688G>A ENST00000374642.3 + 3 730 c.526G>A c.(526-528)Gtc>Atc p.V176I C1QA_ENST00000402322.1_Missense_Mutation_p.V176I NM_015991.2 NP_057075.1 P02745 C1QA_HUMAN complement component 1, q subcomponent, A chain 176 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex autonomic_ganglia(1)|liver(1)|lung(3)|skin(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCTGTCCATCGTCTCCTCCTC 0.602000 22 34 0 0 9.22233e-05 0 0 DNAH5 1767 broad.mit.edu 37 5 13823435 13823435 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr5:13823435G>A ENST00000265104.4 - 40 6728 c.6624C>T c.(6622-6624)ctC>ctT p.L2208L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2208 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TATTTGGAAAGAGATCTTCAA 0.383000 Kartagener syndrome 56 89 0 0 0.000147903 0 0 ATP2A1 487 broad.mit.edu 37 16 28909731 28909731 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr16:28909731G>A ENST00000395503.4 + 14 1907 c.1723G>A c.(1723-1725)Gaa>Aaa p.E575K ATP2A1_ENST00000357084.3_Missense_Mutation_p.E575K|ATP2A1_ENST00000536376.1_Missense_Mutation_p.E450K NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 575 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 GAAGCGAGAGGAAATGGTCCT 0.637000 8 5 0 0 0.000157383 0 0 GBP5 115362 broad.mit.edu 37 1 89732246 89732246 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:89732246G>A ENST00000343435.5 - 7 1187 c.651C>T c.(649-651)ttC>ttT p.F217F RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Silent_p.F217F NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 217 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) GGGGCAAATTGAAATTTTGAA 0.328000 35 62 0 0 0.000191422 0 0 EGFR 1956 broad.mit.edu 37 7 55268925 55268925 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr7:55268925C>T ENST00000275493.2 + 25 3168 c.2991C>T c.(2989-2991)ttC>ttT p.F997F EGFR_ENST00000455089.1_Silent_p.F952F|EGFR_ENST00000454757.2_Silent_p.F944F|EGFR_ENST00000442591.1_Intron NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 997 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ACTCCAACTTCTACCGTGCCC 0.527000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 45 66 0 0 8.96297e-05 0 0 UGT3A1 133688 broad.mit.edu 37 5 35991310 35991310 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr5:35991310G>A ENST00000274278.3 - 1 390 c.33C>T c.(31-33)gcC>gcT p.A11A UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000503189.1_Silent_p.A11A|UGT3A1_ENST00000507113.1_Silent_p.A11A|UGT3A1_ENST00000513233.1_5'UTR NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 11 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAAGAAGGAAGGCCACTAGAA 0.602000 20 42 0 0 0.000175454 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b 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 32 46 0 0 7.24521e-05 0 0 ELMOD1 55531 broad.mit.edu 37 11 107506367 107506367 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr11:107506367G>A ENST00000265840.7 + 6 561 c.296G>A c.(295-297)gGa>gAa p.G99E ELMOD1_ENST00000531234.1_Missense_Mutation_p.G93E|ELMOD1_ENST00000443271.2_Missense_Mutation_p.G99E NM_018712.3 NP_061182.3 Q8N336 ELMD1_HUMAN ELMO/CED-12 domain containing 1 99 phagocytosis cytoskeleton GTPase activator activity endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1) 19 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) CCTAGGCTGGGAATCTCTCTT 0.433000 74 24 0 0 0.000147903 0 0 ILF2 3608 broad.mit.edu 37 1 153636877 153636877 + Missense_Mutation SNP C C G TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:153636877C>G ENST00000361891.4 - 9 776 c.651G>C c.(649-651)caG>caC p.Q217H ILF2_ENST00000480213.1_5'UTR NM_001267809.1|NM_004515.3 NP_001254738.1|NP_004506.2 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 217 DZF. immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|ribonucleoprotein complex ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity cervix(1)|kidney(1)|lung(4)|skin(1) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) CTCACGTGGACTGAGAAGCAT 0.443000 21 61 0 0 0.000375601 0 0 MAP3K3 4215 broad.mit.edu 37 17 61744314 61744314 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr17:61744314C>T ENST00000361357.3 + 7 807 c.489C>T c.(487-489)ccC>ccT p.P163P MAP3K3_ENST00000579585.1_Silent_p.P163P|MAP3K3_ENST00000577395.1_Silent_p.P132P|MAP3K3_ENST00000361733.3_Silent_p.P132P|MAP3K3_ENST00000584573.1_Silent_p.P163P NM_203351.1 NP_976226.1 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 132 MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 GTTCCTCTCCCCACTCTGGGG 0.527000 22 50 0 0 0.000375601 0 0 DNAH17 8632 broad.mit.edu 37 17 76510915 76510915 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr17:76510915C>T ENST00000389840.5 - 26 4166 c.4042G>A c.(4042-4044)Gag>Aag p.E1348K DNAH17_ENST00000585328.1_Missense_Mutation_p.E1349K dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTCTGCAGCTCGCTCACGGCA 0.622000 24 32 0 0 0.000375601 0 0 TICAM1 148022 broad.mit.edu 37 19 4817244 4817244 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr19:4817244G>A ENST00000248244.5 - 2 1375 c.1146C>T c.(1144-1146)ttC>ttT p.F382F NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 382 apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB 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|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGGAGGAAGGGAACAGGGAGG 0.572000 15 37 0 0 5.01169e-05 0 0 PM20D1 148811 broad.mit.edu 37 1 205814680 205814680 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:205814680G>A ENST00000367136.4 - 3 306 c.262C>T c.(262-264)Cct>Tct p.P88S PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 88 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) ACCACTGTAGGAAAGACTAGA 0.463000 16 35 0 0 0.000308642 0 0 COL3A1 1281 broad.mit.edu 37 2 189849645 189849645 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr2:189849645C>T ENST00000304636.3 + 2 409 c.239C>T c.(238-240)cCa>cTa p.P80L COL3A1_ENST00000317840.5_Missense_Mutation_p.P80L NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 80 VWFC. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCAGAAATTCCATTTGGAGAA 0.413000 23 18 0 0 7.16444e-05 0 0 PCSK9 255738 broad.mit.edu 37 1 55525203 55525203 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:55525203G>A ENST00000302118.5 + 10 1838 c.1548G>A c.(1546-1548)ggG>ggA p.G516G PCSK9_ENST00000543384.1_3'UTR|PCSK9_ENST00000490692.1_Intron NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 516 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 ACGCTTTTGGGGGTGAGGGTG 0.597000 38 92 0 0 0.000228196 0 0 CACNA1B 774 broad.mit.edu 37 9 140952241 140952241 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr9:140952241G>A ENST00000277549.5 + 28 4183 c.1614G>A c.(1612-1614)aaG>aaA p.K538K CACNA1B_ENST00000277551.2_Silent_p.K1342K|CACNA1B_ENST00000371355.4_Silent_p.K1343K|CACNA1B_ENST00000371357.1_Silent_p.K1343K|CACNA1B_ENST00000371363.1_Silent_p.K1342K|CACNA1B_ENST00000371372.1_Silent_p.K1342K Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1342 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GGCAGTGGAAGAAATACGACT 0.512000 10 4 0 0 3.86212e-05 0 0 HS1BP3 64342 broad.mit.edu 37 2 20840906 20840906 + Missense_Mutation SNP T T C TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr2:20840906T>C ENST00000402541.1 - 3 247 c.233A>G c.(232-234)tAc>tGc p.Y78C HS1BP3_ENST00000304031.3_Missense_Mutation_p.Y78C|HS1BP3_ENST00000406618.3_Missense_Mutation_p.Y78C Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 78 PX. cell communication phosphatidylinositol binding endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGTTTCTGGTAAAACTCCTC 0.552000 37 36 0 0 8.96297e-05 0 0 OR4A47 403253 broad.mit.edu 37 11 48510479 48510479 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr11:48510479G>A ENST00000446524.1 + 1 211 c.135G>A c.(133-135)gtG>gtA p.V45V NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TCATTGTAGTGACCGTAACTG 0.418000 23 11 0 0 0.000117367 0 0 RFX5 5993 broad.mit.edu 37 1 151314838 151314838 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:151314838G>A ENST00000290524.4 - 11 1853 c.1675C>T c.(1675-1677)Ccc>Tcc p.P559S RFX5_ENST00000452671.2_Missense_Mutation_p.P559S|RFX5_ENST00000452513.2_Missense_Mutation_p.P519S|RFX5_ENST00000368870.2_Missense_Mutation_p.P559S NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 559 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGGACCAAGGGAATTTTATCT 0.522000 54 71 0 0 0.000147903 0 0 EPHA6 285220 broad.mit.edu 37 3 96706248 96706248 + Silent SNP A A G TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr3:96706248A>G ENST00000389672.5 + 3 563 c.525A>G c.(523-525)ccA>ccG p.P175P EPHA6_ENST00000470610.2_Silent_p.P175P|EPHA6_ENST00000542517.1_Silent_p.P81P NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 80 Ephrin-binding. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TAATGGAACCAAACCAAAACA 0.393000 52 67 0 0 0.000147903 0 0 ENPP7 339221 broad.mit.edu 37 17 77708929 77708929 + Missense_Mutation SNP G G C TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr17:77708929G>C ENST00000328313.5 + 3 708 c.487G>C c.(487-489)Gca>Cca p.A163P NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 163 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) AGAAGGCATCGCACACAACTA 0.587000 18 32 0 0 0.000132079 0 0 IGLV5-48 28780 broad.mit.edu 37 22 22707607 22707607 + RNA SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr22:22707607C>T ENST00000390293.1 + 0 195 AGAGCCCTCCCCGGTATCTCC 0.552000 32 59 0 0 0.000227799 0 0 GSE1 23199 broad.mit.edu 37 16 85697143 85697143 + Missense_Mutation SNP A A G TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr16:85697143A>G ENST00000253458.7 + 11 2743 c.2567A>G c.(2566-2568)aAc>aGc p.N856S GSE1_ENST00000405402.2_Missense_Mutation_p.N752S|GSE1_ENST00000393243.1_Missense_Mutation_p.N783S NM_014615.2 NP_055430.1 Gse1 coiled-coil protein GAGATGAACAACAGTCCCAAC 0.557000 4 44 0 0 0.00024832 0 0 DNAH8 1769 broad.mit.edu 37 6 38998093 38998093 + Silent SNP G G T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr6:38998093G>T ENST00000359357.3 + 91 13652 c.13398G>T c.(13396-13398)gtG>gtT p.V4466V DNAH8_ENST00000441566.1_Silent_p.V4430V dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TCATCACTGTGGTATATTTAC 0.478000 7 144 0.000274275 0.00779725 0.000274275 1 0 SH3RF2 153769 broad.mit.edu 37 5 145379788 145379788 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr5:145379788C>T ENST00000511217.1 + 2 598 c.546C>T c.(544-546)atC>atT p.I182I SH3RF2_ENST00000359120.4_Silent_p.I182I Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 182 SH3 1. ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGAAGTCATCAAGCAGCTGC 0.567000 12 27 0 0 0.000151284 0 0 IL17A 3605 broad.mit.edu 37 6 52052467 52052467 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr6:52052467G>A ENST00000340057.1 + 2 139 c.94G>A c.(94-96)Gga>Aga p.G32R NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 32 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) ACGAAATCCAGGATGCCCAAA 0.493000 115 199 0 0 0.000147903 0 0 PTK2 5747 broad.mit.edu 37 8 141727723 141727723 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr8:141727723C>T ENST00000522684.1 - 23 2345 c.2116G>A c.(2116-2118)Gga>Aga p.G706R PTK2_ENST00000521059.1_Missense_Mutation_p.G706R|PTK2_ENST00000519419.1_Missense_Mutation_p.G750R|PTK2_ENST00000538769.1_Missense_Mutation_p.G374R|PTK2_ENST00000519465.1_Missense_Mutation_p.G334R|PTK2_ENST00000535192.1_Missense_Mutation_p.G706R|PTK2_ENST00000395218.2_Missense_Mutation_p.G706R|PTK2_ENST00000430260.2_Missense_Mutation_p.G16R|PTK2_ENST00000517887.1_Missense_Mutation_p.G750R|PTK2_ENST00000340930.3_Missense_Mutation_p.G706R NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 706 axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) TCAGACCCTCCGGAGTCCCAG 0.517000 5 122 0 0 8.12818e-05 0 0 USH2A 7399 broad.mit.edu 37 1 216371818 216371818 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:216371818G>A ENST00000366943.2 - 18 4306 c.3920C>T c.(3919-3921)tCa>tTa p.S1307L RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.S1307L|USH2A_ENST00000307340.3_Missense_Mutation_p.S1307L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1307 Fibronectin type-III 3. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTCTACAAATGAATGAGGACT 0.398000 HNSCC(13;0.011) 11 27 0 0 6.40141e-05 0 0 BRINP1 1620 broad.mit.edu 37 9 121971195 121971195 + Missense_Mutation SNP C C T rs139886257 TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr9:121971195C>T ENST00000265922.3 - 7 1408 c.947G>A c.(946-948)cGc>cAc p.R316H NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 316 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 GCTGGGGAGGCGCTTCATAAA 0.512000 18 14 0 0 0.000295444 0 0 FAM47C 442444 broad.mit.edu 37 X 37029045 37029045 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chrX:37029045C>T ENST00000358047.3 + 1 2614 c.2562C>T c.(2560-2562)gaC>gaT p.D854D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 854 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 AACTCCGTGACTTCAAGTGGG 0.443000 48 16 0 0 0.000147903 0 0 ACSM2A 123876 broad.mit.edu 37 16 20494476 20494476 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr16:20494476G>A ENST00000573854.1 + 13 1720 c.1606G>A c.(1606-1608)Gcc>Acc p.A536T ACSM2A_ENST00000396104.2_Missense_Mutation_p.A536T|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A536T|ACSM2A_ENST00000536134.1_Missense_Mutation_p.A308T|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A536T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A457T NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 536 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GTCAGTGACAGCCCCATACAA 0.488000 32 122 0 0 0.000270559 0 0 UNC79 57578 broad.mit.edu 37 14 94158220 94158220 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr14:94158220G>A ENST00000553484.1 + 48 7735 c.7581G>A c.(7579-7581)gcG>gcA p.A2527A UNC79_ENST00000256339.4_Silent_p.A2328A|UNC79_ENST00000555664.1_Silent_p.A2466A|UNC79_ENST00000393151.2_Silent_p.A2505A Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2505 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GCTTCACGGCGATACTGACAG 0.473000 53 69 0 0 0.000147903 0 0 PTPRD 5789 broad.mit.edu 37 9 8460523 8460523 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr9:8460523G>A ENST00000381196.4 - 30 4306 c.3763C>T c.(3763-3765)Ctg>Ttg p.L1255L PTPRD_ENST00000355233.5_Silent_p.L844L|PTPRD_ENST00000358503.5_Silent_p.L1233L|PTPRD_ENST00000360074.4_Silent_p.L1242L|PTPRD_ENST00000397617.3_Silent_p.L834L|PTPRD_ENST00000540109.1_Silent_p.L1255L|PTPRD_ENST00000356435.5_Silent_p.L1255L|PTPRD_ENST00000397606.3_Silent_p.L834L|PTPRD_ENST00000537002.1_Silent_p.L841L|PTPRD_ENST00000397611.3_Silent_p.L841L|PTPRD_ENST00000486161.1_Silent_p.L844L NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1255 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.L1255M(2)|p.L726M(1)|p.L844M(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TGCGGATCCAGATCCATTGAC 0.438000 TSP Lung(15;0.13) 25 22 0 0 0.000117367 0 0 FAM194A 131831 broad.mit.edu 37 3 150396229 150396229 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr3:150396229G>A ENST00000295910.6 - 10 1276 c.1224C>T c.(1222-1224)atC>atT p.I408I FAM194A_ENST00000491361.1_Silent_p.I262I NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 408 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CACAACAAATGATAGACATGT 0.264000 37 54 0 0 0.000437636 0 0 DACH1 1602 broad.mit.edu 37 13 72063214 72063214 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr13:72063214C>T ENST00000305425.4 - 7 2065 c.1643G>A c.(1642-1644)gGa>gAa p.G548E DACH1_ENST00000354591.4_Missense_Mutation_p.G346E|DACH1_ENST00000359684.2_Missense_Mutation_p.G600E|DACH1_ENST00000313174.7_Missense_Mutation_p.G400E NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 598 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) CAGTGGTTGTCCATGCCCAGT 0.448000 93 141 0 0 0.000147903 0 0 SH3GL2 6456 broad.mit.edu 37 9 17795553 17795553 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr9:17795553G>A ENST00000380607.4 + 9 991 c.871G>A c.(871-873)Gat>Aat p.D291N SH3GL2_ENST00000537391.1_Missense_Mutation_p.D244N NM_003026.2 NP_003017.1 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 291 SH3. axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) TGTCCAAATGGATCAGCCCTG 0.473000 15 11 0 0 9.7654e-05 0 0 LIX1 167410 broad.mit.edu 37 5 96432554 96432554 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr5:96432554C>T ENST00000274382.4 - 5 816 c.521G>A c.(520-522)gGa>gAa p.G174E CTD-2215E18.1_ENST00000509481.1_Intron NM_153234.4 NP_694966.3 Q8N485 LIX1_HUMAN Lix1 homolog (chicken) 174 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1) 10 all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.0733) TTTTAGGCTTCCATTCCAGTG 0.428000 22 36 0 0 0.000295444 0 0 SLC9C2 284525 broad.mit.edu 37 1 173550993 173550993 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:173550993G>A ENST00000367714.3 - 7 1217 c.795C>T c.(793-795)ttC>ttT p.F265F RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Silent_p.F163F NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 265 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TACCAATATAGAAAGTCATGT 0.318000 13 25 0 0 0.000422831 0 0 OR10A4 283297 broad.mit.edu 37 11 6898649 6898649 + Silent SNP C C T rs146451877 TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr11:6898649C>T ENST00000379829.2 + 1 794 c.771C>T c.(769-771)atC>atT p.I257I NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GCACTGCCATCCTCACGTATT 0.527000 50 17 0 0 0.000147903 0 0 TCHH 7062 broad.mit.edu 37 1 152082200 152082200 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:152082200C>T ENST00000368804.1 - 2 3492 c.3493G>A c.(3493-3495)Gag>Aag p.E1165K NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1165 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCCAGCTCCTGGCGCCTT 0.612000 5 12 0 0 1.23904e-05 0 0 OSBP2 23762 broad.mit.edu 37 22 31289464 31289464 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr22:31289464G>A ENST00000332585.6 + 10 2109 c.2005G>A c.(2005-2007)Gaa>Aaa p.E669K OSBP2_ENST00000535268.1_Missense_Mutation_p.E213K|OSBP2_ENST00000496575.1_3'UTR|OSBP2_ENST00000437268.2_Missense_Mutation_p.E411K|OSBP2_ENST00000382310.3_Missense_Mutation_p.E620K|OSBP2_ENST00000401475.1_Missense_Mutation_p.E302K|OSBP2_ENST00000403222.3_Missense_Mutation_p.E503K|OSBP2_ENST00000407373.1_Missense_Mutation_p.E496K|OSBP2_ENST00000446658.2_Missense_Mutation_p.E668K NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 669 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 CATCCACTTAGAATTCCAGGC 0.587000 24 49 0 0 0.000117367 0 0 ACSS3 79611 broad.mit.edu 37 12 81624906 81624906 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr12:81624906G>A ENST00000548058.1 + 12 2495 c.1585G>A c.(1585-1587)Gaa>Aaa p.E529K ACSS3_ENST00000548324.1_Missense_Mutation_p.E211K|ACSS3_ENST00000261206.3_Missense_Mutation_p.E528K Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 529 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TTTATACTTTGAAAAATTTCC 0.308000 22 39 0 0 0.000229342 0 0 UGT1A8 54576 broad.mit.edu 37 2 234526865 234526865 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr2:234526865G>A ENST00000373450.4 + 1 575 c.512G>A c.(511-513)gGa>gAa p.G171E NM_019076.4 NP_061949.3 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) TTCGCCAGGGGAATAGCTTGC 0.473000 76 58 0 0 0.000147903 0 0 BMPER 168667 broad.mit.edu 37 7 34097684 34097684 + Missense_Mutation SNP G G T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr7:34097684G>T ENST00000297161.2 + 11 1315 c.941G>T c.(940-942)tGg>tTg p.W314L BMPER_ENST00000426693.1_Missense_Mutation_p.W314L NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 314 VWFC 5. 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 GGAGAGATGTGGTCCTCTATC 0.517000 5 68 3.59834e-05 0.00106876 3.59834e-05 1 0 C2CD3 26005 broad.mit.edu 37 11 73753120 73753120 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr11:73753120G>A ENST00000334126.7 - 29 5865 c.5639C>T c.(5638-5640)aCc>aTc p.T1880I C2CD3_ENST00000313663.7_Missense_Mutation_p.T1880I Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1880 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) CAGAATGGAGGTTTGGGAGGA 0.493000 38 17 0 0 0.000437636 0 0 MYT1L 23040 broad.mit.edu 37 2 1906931 1906931 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr2:1906931G>A ENST00000399161.2 - 14 2700 c.1953C>T c.(1951-1953)taC>taT p.Y651Y MYT1L_ENST00000428368.2_Silent_p.Y649Y NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 651 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TATGGTTGTCGTAACTGTTGT 0.478000 7 71 0 0 8.12818e-05 0 0 AFP 174 broad.mit.edu 37 4 74310728 74310728 + Silent SNP T T C TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr4:74310728T>C ENST00000395792.2 + 7 832 c.732T>C c.(730-732)agT>agC p.S244S AFP_ENST00000226359.2_Silent_p.S244S NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 244 Albumin 2. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTAAACTGAGTCAGAAGTTTA 0.333000 Alpha-Fetoprotein, Hereditary Persistence of 16 32 0 0 0.000308642 0 0 CACNA1A 773 broad.mit.edu 37 19 13365981 13365981 + Silent SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr19:13365981G>A ENST00000360228.5 - 29 4682 c.4683C>T c.(4681-4683)ttC>ttT p.F1561F CACNA1A_ENST00000573710.2_Silent_p.F1562F NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1562 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding p.F1562F(3) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GAGACACCACGAACTGCCACA 0.587000 9 18 0 0 3.86212e-05 0 0 PEG3 5178 broad.mit.edu 37 19 57325403 57325403 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr19:57325403C>T ENST00000326441.9 - 10 4770 c.4407G>A c.(4405-4407)gaG>gaA p.E1469E PEG3_ENST00000423103.2_Silent_p.E1469E|PEG3_ENST00000593695.1_Silent_p.E1343E|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Silent_p.E1345E NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1469 Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CAGCTTTTCCCTCTGGCTCTT 0.527000 28 57 0 0 0.000227799 0 0 IGHV3-20 28445 broad.mit.edu 37 14 106667749 106667749 + RNA SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr14:106667749C>T ENST00000390606.2 - 0 244 CCAGCCCCTTCCCTGGAGCTT 0.562000 38 52 0 0 8.96297e-05 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361499 70361499 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr4:70361499C>T ENST00000305107.6 - 1 127 c.81G>A c.(79-81)ctG>ctA p.L27L UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Silent_p.L27L NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 27 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.L27L(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TGGGCCACACCAGCACCTTTC 0.458000 42 84 0 0 0.000147903 0 0 FSTL5 56884 broad.mit.edu 37 4 162459387 162459387 + Missense_Mutation SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr4:162459387C>T ENST00000306100.5 - 10 1679 c.1243G>A c.(1243-1245)Gca>Aca p.A415T FSTL5_ENST00000379164.4_Missense_Mutation_p.A414T|FSTL5_ENST00000536695.1_Missense_Mutation_p.A414T|FSTL5_ENST00000427802.2_Missense_Mutation_p.A414T NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 415 Ig-like 2. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TCATTCTTTGCGATACAAGTG 0.423000 55 93 0 0 0.000147903 0 0 SRGAP2-AS1 100873165 broad.mit.edu 37 1 121137803 121137805 + RNA DEL CCA CCA - rs60375635 by1000genomes TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:121137803_121137805delCCA ENST00000437515.1 - 0 329 ACCGCCGCCGCCACGGCTTTTTG 0.645 5 3 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 2 4 --- --- --- --- LINC00969 440993 broad.mit.edu 37 3 195400918 195400919 + RNA INS - - T rs55992531 by1000genomes TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr3:195400918_195400919insT ENST00000445430.1 + 0 1454 AGTCttttttctttttttttga 0.525 3 6 --- --- --- --- CASP8AP2 9994 broad.mit.edu 37 6 90577612 90577614 + RNA DEL GAA GAA - TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr6:90577612_90577614delGAA ENST00000551025.1 + 0 6040_6042 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CGTCATAATGGAAAAGTCCAATG 0.414 50 61 --- --- --- --- MYBL1 4603 broad.mit.edu 37 8 67488453 67488453 + Frame_Shift_Del DEL T T - TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr8:67488453delT ENST00000522677.3 - 10 1669 c.1259delA c.(1258-1260)acfs p.N420fs MYBL1_ENST00000524176.2_Frame_Shift_Del_p.N420fs|MYBL1_ENST00000517885.1_Intron NM_001080416.2|NM_001144755.1 NP_001073885.1|NP_001138227.1 P10243 MYBA_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 1 420 Negative regulatory domain (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1) 25 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) ATTACAAGTGTTTTTTTTCCC 0.403 7 424 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 4 6 --- --- --- --- TMEM121 80757 broad.mit.edu 37 14 105996050 105996052 + In_Frame_Del DEL GCC GCC - rs5811180 TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr14:105996050_105996052delGCC ENST00000392519.2 + 2 1043_1045 c.879_881delGCC c.(877-882)gtg>gt p.VP293del TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del NM_025268.2 NP_079544.1 Q9BTD3 TM121_HUMAN transmembrane protein 121 293 Pro-rich. integral to membrane endometrium(2)|lung(1) 3 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.0959)|all cancers(159;0.235) GCAACTCGGTgccgccgccgccg 0.768 2 4 --- --- --- --- CRTC3-AS1 101926895 broad.mit.edu 37 15 91190495 91190497 + RNA DEL CCT CCT - TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr15:91190495_91190497delCCT ENST00000559531.1 - 0 294 cctccacacccctcctcctcaat 0.611 2 4 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102312241 102312241 + RNA DEL A A - rs59860046 TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr15:102312241delA ENST00000561463.1 + 0 13609 AGTGGCCGGGAAATTTGCTGT 0.592 11 16 --- --- --- --- PPM1E 22843 broad.mit.edu 37 17 56833457 56833458 + In_Frame_Ins INS - - GAACCC rs72376816 by1000genomes TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr17:56833457_56833458insGAACCC ENST00000308249.2 + 1 228_229 c.99_100insGAACCC c.(97-102)ccaacc>ccGAACCCaacc p.32_33insPN NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 32 11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) agccggagccggaacccgaacc 0.673 9 26 --- --- --- --- MIR3648-1 100500862 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 3 6 --- --- --- ---