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 RNF135 84282 broad.mit.edu 37 17 29326025 29326025 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr17:29326025G>A ENST00000328381.5 + 5 1988 c.1115G>A c.(1114-1116)aGa>aAa p.R372K RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR NM_032322.3 NP_115698.3 Q8IUD6 RN135_HUMAN ring finger protein 135 372 B30.2/SPRY. innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response cytosol protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding p.?(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1) 10 all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255) GGCTCAGACAGACCTGGGGTG 0.522000 47 13 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46256484 46256484 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr20:46256484G>A ENST00000372004.3 + 7 928 c.712G>A c.(712-714)Gaa>Aaa p.E238K NCOA3_ENST00000341724.6_Missense_Mutation_p.E238K|NCOA3_ENST00000371997.3_Missense_Mutation_p.E238K|NCOA3_ENST00000371998.3_Missense_Mutation_p.E238K|NCOA3_ENST00000497292.1_3'UTR NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 238 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TATGATGGAGGAAGGGGAAGG 0.418000 30 51 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82436055 82436055 + Missense_Mutation SNP T T C TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr1:82436055T>C ENST00000370728.1 + 18 3424 c.2779T>C c.(2779-2781)Tgg>Cgg p.W927R LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.W927R|LPHN2_ENST00000319517.6_Missense_Mutation_p.W914R|LPHN2_ENST00000370721.1_Missense_Mutation_p.W852R|LPHN2_ENST00000370723.1_Missense_Mutation_p.W914R|LPHN2_ENST00000370725.1_Missense_Mutation_p.W927R|LPHN2_ENST00000370727.1_Missense_Mutation_p.W927R|LPHN2_ENST00000394879.1_Missense_Mutation_p.W914R|LPHN2_ENST00000359929.3_Missense_Mutation_p.W914R|LPHN2_ENST00000335786.5_Missense_Mutation_p.W927R|LPHN2_ENST00000370730.1_Missense_Mutation_p.W927R|LPHN2_ENST00000271029.4_Missense_Mutation_p.W927R|LPHN2_ENST00000370713.1_Missense_Mutation_p.W914R|LPHN2_ENST00000370715.1_Missense_Mutation_p.W914R O95490 LPHN2_HUMAN latrophilin 2 927 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AGCTTTTGCTTGGATGTGCCT 0.358000 59 25 0 0 1 0 0 P2RY10 27334 broad.mit.edu 37 X 78216449 78216449 + Nonsense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:78216449G>A ENST00000171757.2 + 4 712 c.432G>A c.(430-432)tgG>tgA p.W144* P2RY10_ENST00000544091.1_Nonsense_Mutation_p.W144*|P2RY10_ENST00000475374.1_3'UTR NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 144 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 CCAGAGACTGGAAGCGTAGGT 0.493000 27 90 0 0 1 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869584 22869584 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr22:22869584C>T ENST00000302097.3 - 2 623 c.371G>A c.(370-372)gGt>gAt p.G124D NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) CATTTTATAACCAGGTTCAGA 0.488000 28 114 0 0 1 0 0 CHRM4 1132 broad.mit.edu 37 11 46408012 46408012 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr11:46408012C>T ENST00000433765.2 - 1 95 c.96G>A c.(94-96)atG>atA p.M32I NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 32 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) CAATGAAGACCATTTCCACCG 0.562000 46 88 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158655007 158655007 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr1:158655007G>A ENST00000368148.3 - 2 335 c.155C>T c.(154-156)tCc>tTc p.S52F SPTA1_ENST00000368147.3_Missense_Mutation_p.S52F NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 52 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) taagtgataggaatcctcaag 0.468000 27 71 0 0 1 0 0 NEK6 10783 broad.mit.edu 37 9 127101905 127101905 + Missense_Mutation SNP C C A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr9:127101905C>A ENST00000373600.3 + 9 995 c.780C>A c.(778-780)ttC>ttA p.F260L NEK6_ENST00000546191.1_Missense_Mutation_p.F226L|NEK6_ENST00000540326.1_Missense_Mutation_p.F244L|NEK6_ENST00000320246.5_Missense_Mutation_p.F226L|NEK6_ENST00000539416.1_Missense_Mutation_p.F251L|NEK6_ENST00000373603.1_Missense_Mutation_p.F226L|NEK6_ENST00000394199.2_Missense_Mutation_p.F260L|NEK6_ENST00000545174.1_Missense_Mutation_p.F226L NM_001145001.2 NP_001138473.1 Q9HC98 NEK6_HUMAN NIMA-related kinase 6 226 Protein kinase. apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition cytoplasm|nucleus ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 GCTACAACTTCAAGTCCGACA 0.587000 118 39 3.44819e-71 3.65572e-71 1 1 0 RABGAP1 23637 broad.mit.edu 37 9 125827631 125827631 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr9:125827631C>T ENST00000373647.4 + 14 1933 c.1799C>T c.(1798-1800)tCt>tTt p.S600F RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_5'UTR NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 600 Rab-GAP TBC. cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 CCACAGGAGTCTCCCCAGGAC 0.408000 63 29 0 0 1 0 0 LPAR4 2846 broad.mit.edu 37 X 78011160 78011160 + Missense_Mutation SNP A A G TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:78011160A>G ENST00000435339.2 + 2 1199 c.794A>G c.(793-795)tAc>tGc p.Y265C LPAR4_ENST00000373301.2_Missense_Mutation_p.Y265C NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 265 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TTTGTACCCTACAACTCTGTC 0.423000 9 45 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50985695 50985695 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr18:50985695G>A ENST00000442544.2 + 24 4102 c.3486G>A c.(3484-3486)atG>atA p.M1162I DCC_ENST00000581580.1_Missense_Mutation_p.M797I NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1162 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AAATGGAGATGAAAAATATTG 0.522000 47 94 0 0 1 0 0 YJEFN3 374887 broad.mit.edu 37 19 19643533 19643533 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr19:19643533C>T ENST00000514277.3 + 3 337 c.302C>T c.(301-303)gCc>gTc p.A101V CTC-260F20.3_ENST00000555938.1_Intron|CTC-260F20.3_ENST00000586674.1_3'UTR|YJEFN3_ENST00000436027.4_Missense_Mutation_p.A51V NM_198537.3 NP_940939.2 A6XGL0 YJEN3_HUMAN YjeF N-terminal domain containing 3 101 YjeF N-terminal. NS(1)|breast(1)|lung(3) 5 CATGCTAGTGCCGTGGCTGTG 0.652000 7 0 0 0 1 0 0 ZNF775 285971 broad.mit.edu 37 7 150094384 150094384 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr7:150094384C>T ENST00000329630.5 + 3 922 c.815C>T c.(814-816)cCc>cTc p.P272L NM_173680.3 NP_775951.2 Q96BV0 ZN775_HUMAN zinc finger protein 775 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1) 11 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.0173) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) gtctccggccccgaggggccg 0.756000 16 12 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26692916 26692916 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr22:26692916C>T ENST00000529632.2 + 4 1228 c.1032C>T c.(1030-1032)acC>acT p.T344T SEZ6L_ENST00000360929.3_Silent_p.T344T|SEZ6L_ENST00000404234.3_Silent_p.T344T|SEZ6L_ENST00000402979.1_Silent_p.T117T|SEZ6L_ENST00000248933.6_Silent_p.T344T|SEZ6L_ENST00000343706.4_Silent_p.T344T|SEZ6L_ENST00000403121.1_Silent_p.T117T NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 344 CUB 1. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 ACGGCCCTACCCTGACCGTCC 0.612000 12 48 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73485731 73485731 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr17:73485731C>T ENST00000314256.7 + 9 1336 c.942C>T c.(940-942)ctC>ctT p.L314L KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000583795.1_Intron|KIAA0195_ENST00000375248.5_Silent_p.L324L NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 314 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) AGTACACCCTCCTCCAGCTCC 0.632000 44 53 0 0 1 0 0 SHROOM2 357 broad.mit.edu 37 X 9912706 9912706 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:9912706G>A ENST00000380913.3 + 9 4427 c.4337G>A c.(4336-4338)cGc>cAc p.R1446H SHROOM2_ENST00000418909.2_Missense_Mutation_p.R281H NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1446 ASD2. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) AGCATCAGCCGCAAGCTGCAG 0.677000 3 20 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38942477 38942477 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr19:38942477C>T ENST00000355481.4 + 12 1327 c.1196C>T c.(1195-1197)gCc>gTc p.A399V RYR1_ENST00000359596.3_Missense_Mutation_p.A399V|RYR1_ENST00000360985.3_Missense_Mutation_p.A399V NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 399 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GAGTCCCAGGCCGCCCGCATG 0.627000 57 55 0 0 1 0 0 ZNF598 90850 broad.mit.edu 37 16 2048254 2048254 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr16:2048254G>A ENST00000563630.1 - 12 2771 c.2529C>T c.(2527-2529)gcC>gcT p.A843A ZNF598_ENST00000431526.1_Silent_p.A898A|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Silent_p.A843A Q86UK7 ZN598_HUMAN zinc finger protein 598 898 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 TCCTGGCGATGGCTTGCAGGG 0.677000 126 225 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89692838 89692838 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr10:89692838C>T ENST00000371953.3 + 5 1679 c.322C>T c.(322-324)Ctt>Ttt p.L108F NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 108 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.L108_D109del(2)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTGTGAAGATCTTGACCAATG 0.373000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 68 29 0 0 1 0 0 CHID1 66005 broad.mit.edu 37 11 883176 883176 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr11:883176C>T ENST00000449825.1 - 10 1287 c.931G>A c.(931-933)Gat>Aat p.D311N CHID1_ENST00000454838.2_Missense_Mutation_p.D336N|CHID1_ENST00000528581.1_Missense_Mutation_p.D336N|CHID1_ENST00000436108.2_Missense_Mutation_p.D311N|CHID1_ENST00000323578.8_Missense_Mutation_p.D311N|CHID1_ENST00000429789.2_Missense_Mutation_p.D280N|CHID1_ENST00000336845.5_Missense_Mutation_p.D336N|CHID1_ENST00000323541.7_Missense_Mutation_p.D341N|CHID1_ENST00000526714.1_5'UTR NM_001142675.1 NP_001136147.1 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 311 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) TCACGGGCATCCTTGGAGGTC 0.622000 154 148 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106208038 106208038 + RNA SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr14:106208038G>A ENST00000390548.2 - 0 764 CGCTGGGATAGAAGCCTTTGA 0.622000 98 150 0 0 1 0 0 PODXL 5420 broad.mit.edu 37 7 131195728 131195728 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr7:131195728G>A ENST00000541194.1 - 2 828 c.571C>T c.(571-573)Ccc>Tcc p.P191S PODXL_ENST00000537928.1_Missense_Mutation_p.P189S|PODXL_ENST00000322985.9_Missense_Mutation_p.P189S|PODXL_ENST00000378555.3_Missense_Mutation_p.P189S NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 189 Thr-rich. cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) GGTTGTCGGGGGCTAAGTGGA 0.532000 89 193 0 0 1 0 0 LUZP4 51213 broad.mit.edu 37 X 114536587 114536587 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:114536587G>A ENST00000371920.3 + 2 129 c.122G>A c.(121-123)gGg>gAg p.G41E LUZP4_ENST00000451986.2_5'UTR NM_016383.3 NP_057467.1 Q9P127 LUZP4_HUMAN leucine zipper protein 4 41 nucleus endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 14 GAGTTAGAAGGGACAAATGCT 0.328000 69 63 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160783508 160783508 + Silent SNP C C T rs143381957 by1000genomes TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr1:160783508C>T ENST00000263285.5 + 3 567 c.537C>T c.(535-537)tcC>tcT p.S179S LY9_ENST00000341032.4_Silent_p.S179S|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Silent_p.S139S|LY9_ENST00000471816.1_3'UTR NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 179 Ig-like C2-type 1. 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) TAATGTGCTCCGTGAAGGGGG 0.532000 71 74 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 83037702 83037702 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr7:83037702C>T ENST00000307792.3 - 6 1119 c.652G>A c.(652-654)Gat>Aat p.D218N SEMA3E_ENST00000427262.1_Missense_Mutation_p.D158N NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 218 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) AGACGCTCATCGTCATGCTCA 0.443000 17 58 0 0 1 0 0 C10orf120 399814 broad.mit.edu 37 10 124457349 124457349 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr10:124457349G>A ENST00000329446.4 - 3 939 c.908C>T c.(907-909)tCa>tTa p.S303L NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 303 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) GTCTCTCCGTGATATAAAATC 0.428000 67 21 0 0 1 0 0 PDGFD 80310 broad.mit.edu 37 11 103814213 103814213 + Nonsense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr11:103814213G>A ENST00000302251.5 - 5 1172 c.721C>T c.(721-723)Cga>Tga p.R241* PDGFD_ENST00000393158.2_Nonsense_Mutation_p.R247* NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 247 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) GACCTGCCTCGATACCGAGGG 0.413000 18 6 0 0 1 0 0 PHKG2 5261 broad.mit.edu 37 16 30762550 30762550 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr16:30762550C>T ENST00000563588.1 + 3 458 c.219C>T c.(217-219)gcC>gcT p.A73A RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000424889.3_Silent_p.A73A|PHKG2_ENST00000328273.7_Silent_p.A73A NM_000294.2 NP_000285.1 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 73 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1)|skin(1) 2 Colorectal(24;0.198) TGCGGGAAGCCACACGGCGAG 0.602000 30 44 0 0 1 0 0 KRT16 3868 broad.mit.edu 37 17 39768479 39768479 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr17:39768479C>T ENST00000301653.4 - 1 526 c.462G>A c.(460-462)caG>caA p.Q154Q NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 154 Linker 1.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) GCCGCTGCCTCTGGTACCAGT 0.567000 101 131 0 0 1 0 0 DLGAP1 9229 broad.mit.edu 37 18 3814269 3814269 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr18:3814269G>A ENST00000315677.3 - 5 1557 c.962C>T c.(961-963)cCa>cTa p.P321L DLGAP1_ENST00000400149.3_Missense_Mutation_p.P29L|DLGAP1_ENST00000581527.1_Missense_Mutation_p.P321L|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000584874.1_Missense_Mutation_p.P321L|DLGAP1_ENST00000581699.1_Missense_Mutation_p.P27L|DLGAP1_ENST00000400145.2_Missense_Mutation_p.P19L|DLGAP1_ENST00000400155.1_Missense_Mutation_p.P27L|DLGAP1_ENST00000400150.3_Missense_Mutation_p.P27L|DLGAP1_ENST00000400147.2_Missense_Mutation_p.P19L|DLGAP1_ENST00000539435.1_Missense_Mutation_p.P19L|DLGAP1_ENST00000534970.1_Missense_Mutation_p.P33L|DLGAP1_ENST00000515196.2_Missense_Mutation_p.P321L NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 321 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) TTCATCTTGTGGAACCTATTC 0.348000 69 97 0 0 1 0 0 HES6 55502 broad.mit.edu 37 2 239147613 239147613 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr2:239147613G>A ENST00000272937.5 - 4 748 c.530C>T c.(529-531)cCt>cTt p.P177L HES6_ENST00000409574.1_3'UTR|HES6_ENST00000409160.3_3'UTR|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409002.3_Missense_Mutation_p.P175L|HES6_ENST00000409182.1_Missense_Mutation_p.P148L Q96HZ4 HES6_HUMAN hes family bHLH transcription factor 6 177 cell differentiation transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity lung(1)|skin(1) 2 Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148) GTCGTCCCCAGGACCCGGGGG 0.736000 7 18 0 0 1 0 0 BMP2 650 broad.mit.edu 37 20 6759215 6759215 + Missense_Mutation SNP C C A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr20:6759215C>A ENST00000378827.4 + 3 1889 c.670C>A c.(670-672)Cat>Aat p.H224N NM_001200.2 NP_001191.1 P12643 BMP2_HUMAN bone morphogenetic protein 2 224 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) ACACGCCAACCATGGATTCGT 0.517000 20 21 8.00594e-06 8.07648e-06 1 1 0 POM121L12 285877 broad.mit.edu 37 7 53103507 53103507 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr7:53103507G>A ENST00000408890.4 + 1 159 c.143G>A c.(142-144)gGt>gAt p.G48D NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 48 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 TCTCCCCAGGGTCGCCAGAGT 0.682000 40 66 0 0 1 0 0 CYB5R2 51700 broad.mit.edu 37 11 7690490 7690490 + Missense_Mutation SNP C C G TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr11:7690490C>G ENST00000533558.1 - 5 890 c.334G>C c.(334-336)Ggg>Cgg p.G112R CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000524790.1_Missense_Mutation_p.G112R|CYB5R2_ENST00000299498.6_Missense_Mutation_p.G112R|CYB5R2_ENST00000299497.9_Missense_Mutation_p.G112R Q6BCY4 NB5R2_HUMAN cytochrome b5 reductase 2 112 FAD-binding FR-type. sterol biosynthetic process membrane|soluble fraction cytochrome-b5 reductase activity p.G112R(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) ATGGTCTCCCCGATTTTCATG 0.483000 76 100 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175293620 175293620 + Missense_Mutation SNP A A T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr1:175293620A>T ENST00000367674.1 - 22 4537 c.3829T>A c.(3829-3831)Tcc>Acc p.S1277T TNR_ENST00000263525.2_Missense_Mutation_p.S1277T|RP3-518E13.2_ENST00000569593.1_RNA NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 1277 Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TCCTCTGTGGAGAAAGGGCGT 0.473000 33 95 0 0 1 0 0 FGF18 8817 broad.mit.edu 37 5 170883572 170883572 + Missense_Mutation SNP C C A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr5:170883572C>A ENST00000274625.5 + 5 931 c.387C>A c.(385-387)ttC>ttA p.F129L NM_003862.2 NP_003853.1 O76093 FGF18_HUMAN fibroblast growth factor 18 129 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation extracellular space|nucleolus growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 9 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGTGTGTGTTCATCGAGAAGG 0.567000 60 27 1.69475e-38 1.78027e-38 1 1 0 CACNA1G 8913 broad.mit.edu 37 17 48649267 48649267 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr17:48649267G>A ENST00000352832.5 + 5 987 c.615G>A c.(613-615)ctG>ctA p.L205L CACNA1G_ENST00000507896.1_Silent_p.L205L|CACNA1G_ENST00000416767.4_Silent_p.L205L|CACNA1G_ENST00000505165.1_Silent_p.L205L|CACNA1G_ENST00000429973.2_Silent_p.L205L|CACNA1G_ENST00000358244.5_Silent_p.L205L|CACNA1G_ENST00000507510.2_Silent_p.L205L|CACNA1G_ENST00000515765.1_Silent_p.L205L|CACNA1G_ENST00000502264.1_Silent_p.L205L|CACNA1G_ENST00000507609.1_Silent_p.L205L|CACNA1G_ENST00000514717.1_Silent_p.L205L|CACNA1G_ENST00000514079.1_Silent_p.L205L|CACNA1G_ENST00000354983.4_Silent_p.L205L|CACNA1G_ENST00000359106.5_Silent_p.L205L|CACNA1G_ENST00000507336.1_Silent_p.L205L|CACNA1G_ENST00000513964.1_Silent_p.L205L|CACNA1G_ENST00000512389.1_Silent_p.L205L|CACNA1G_ENST00000514181.1_Silent_p.L205L|CACNA1G_ENST00000442258.2_Silent_p.L205L|CACNA1G_ENST00000513689.2_Silent_p.L205L|CACNA1G_ENST00000515411.1_Silent_p.L205L|CACNA1G_ENST00000503485.1_Silent_p.L205L|CACNA1G_ENST00000510366.1_Silent_p.L205L|CACNA1G_ENST00000360761.4_Silent_p.L205L|CACNA1G_ENST00000510115.1_Silent_p.L205L|CACNA1G_ENST00000515165.1_Silent_p.L205L NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 205 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CGTTGCTGCTGGATACGCTGC 0.652000 58 86 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74274832 74274832 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr2:74274832C>T ENST00000409262.3 + 1 1383 c.1383C>T c.(1381-1383)gcC>gcT p.A461A NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 461 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGAAAGCTGCCCCTGGGATCA 0.592000 15 23 0 0 1 0 0 PCYT1B 9468 broad.mit.edu 37 X 24593424 24593424 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:24593424G>A ENST00000379145.1 - 7 710 c.666C>T c.(664-666)taC>taT p.Y222Y PCYT1B_ENST00000356768.4_Silent_p.Y240Y|PCYT1B_ENST00000492876.1_5'UTR|PCYT1B_ENST00000379144.2_Silent_p.Y240Y NM_001163264.1 NP_001156736.1 Q9Y5K3 PCY1B_HUMAN phosphate cytidylyltransferase 1, choline, beta 240 Catalytic (Potential). endoplasmic reticulum choline-phosphate cytidylyltransferase activity breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 17 Choline(DB00122) TCTGGAAACGGTACCTCTTCT 0.358000 11 36 0 0 1 0 0 POLH 5429 broad.mit.edu 37 6 43572458 43572458 + Missense_Mutation SNP C C G TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr6:43572458C>G ENST00000372236.4 + 8 1286 c.991C>G c.(991-993)Ctt>Gtt p.L331V POLH_ENST00000535400.1_Missense_Mutation_p.L269V|POLH_ENST00000372226.1_Missense_Mutation_p.L331V NM_006502.2 NP_006493.1 Q9Y253 POLH_HUMAN polymerase (DNA directed), eta 331 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C cytoplasm|nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) AAAAACAGCTCTTGCTACTCG 0.463000 DNA polymerases (catalytic subunits) Xeroderma Pigmentosum 57 71 0 0 1 0 0 ATP11C 286410 broad.mit.edu 37 X 138880881 138880881 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:138880881G>A ENST00000370557.1 - 9 1759 c.732C>T c.(730-732)ctC>ctT p.L244L ATP11C_ENST00000359686.2_Silent_p.L247L|ATP11C_ENST00000361648.2_Silent_p.L247L|ATP11C_ENST00000327569.3_Silent_p.L247L|ATP11C_ENST00000370543.1_Silent_p.L247L Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 247 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) CTTTCAGCAAGAGATTTTCAG 0.363000 34 26 0 0 1 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182908438 182908438 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr1:182908438G>A ENST00000367547.3 - 5 1185 c.949C>T c.(949-951)Ctc>Ttc p.L317F SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.L198F NM_030933.2 NP_112195.2 Q9BZQ2 SHP1L_HUMAN SHC SH2-domain binding protein 1-like 389 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 TACTCAATGAGCTCGACACGT 0.373000 11 36 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20547710 20547710 + Missense_Mutation SNP A A T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr4:20547710A>T ENST00000504154.1 + 22 2585 c.2333A>T c.(2332-2334)cAt>cTt p.H778L SLIT2_ENST00000503823.1_Missense_Mutation_p.H770L|SLIT2_ENST00000273739.5_Missense_Mutation_p.H782L|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Missense_Mutation_p.H774L NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 778 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AACTACAAACATTTAACACTT 0.363000 16 8 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248436778 248436778 + Missense_Mutation SNP T T G TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr1:248436778T>G ENST00000318021.2 - 1 360 c.339A>C c.(337-339)ttA>ttC p.L113F NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCATGGCTGCTAAGAGGAAGC 0.587000 46 133 0 0 1 0 0 CCDC163P 126661 broad.mit.edu 37 1 45960755 45960755 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr1:45960755G>A ENST00000432082.1 - 5 778 c.414C>T c.(412-414)tcC>tcT p.S138S CCDC163P_ENST00000502793.2_5'UTR|CCDC163P_ENST00000490551.3_3'UTR cervix(1)|endometrium(1) 2 GGGCCCCAAAGGAATAGGTCC 0.507000 63 70 0 0 1 0 0 ANKIB1 54467 broad.mit.edu 37 7 92027553 92027553 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr7:92027553C>T ENST00000265742.3 + 20 2936 c.2560C>T c.(2560-2562)Ccc>Tcc p.P854S NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 854 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TGAAGACGATCCCAATATACT 0.408000 15 41 0 0 1 0 0 C15orf27 123591 broad.mit.edu 37 15 76496454 76496454 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr15:76496454G>A ENST00000388942.3 + 11 1670 c.1394G>A c.(1393-1395)cGg>cAg p.R465Q NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 465 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 CCCCTCGCCCGGCCCAGCCCA 0.652000 79 133 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15288467 15288467 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr19:15288467G>A ENST00000263388.2 - 24 4347 c.4272C>T c.(4270-4272)ccC>ccT p.P1424P NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1424 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) ATTGCCGCCAGGGGTCGCCCA 0.716000 7 2 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33632842 33632842 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr6:33632842C>T ENST00000374316.5 + 14 2321 c.1261C>T c.(1261-1263)Ccc>Tcc p.P421S ITPR3_ENST00000605930.1_Missense_Mutation_p.P421S Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 421 MIR 5. activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GGGCACCTGCCCCACCAAGGA 0.657000 56 97 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834533 101834533 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr5:101834533C>T ENST00000506729.1 - 1 187 c.16G>A c.(16-18)Gcc>Acc p.A6T SLCO6A1_ENST00000389019.3_Missense_Mutation_p.A6T|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.A6T|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.A6T|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.A6T Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 6 integral to membrane|plasma membrane transporter activity p.A6S(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GAGTGCCGGGCGACGCCTACG 0.706000 142 58 0 0 1 0 0 GPR111 222611 broad.mit.edu 37 6 47650286 47650286 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr6:47650286G>A ENST00000398742.2 + 5 1836 c.1787G>A c.(1786-1788)gGa>gAa p.G596E GPR111_ENST00000507065.1_Missense_Mutation_p.G596E|GPR111_ENST00000296862.1_Missense_Mutation_p.G664E Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 664 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CTGACCTGGGGATTTGGAGTA 0.507000 24 48 0 0 1 0 0 CTC1 80169 broad.mit.edu 37 17 8135696 8135696 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr17:8135696G>A ENST00000315684.8 - 12 2050 c.2043C>T c.(2041-2043)atC>atT p.I681I NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 681 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 GCTGCTTCTGGATGAAGCCTG 0.587000 161 65 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79429006 79429006 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr17:79429006C>T ENST00000307745.7 + 30 7317 c.7317C>T c.(7315-7317)aaC>aaT p.N2439N CCGTGGAAAACCGGCCAAAGA 0.642000 16 23 0 0 1 0 0 TRIM59 286827 broad.mit.edu 37 3 160155992 160155992 + Nonsense_Mutation SNP A A T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr3:160155992A>T ENST00000309784.4 - 3 1165 c.980T>A c.(979-981)tTa>tAa p.L327* RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_Intron NM_173084.2 NP_775107.1 Q8IWR1 TRI59_HUMAN tripartite motif containing 59 327 integral to membrane|intracellular zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3) 15 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TAAAATTTTTAAAAATTCAAC 0.303000 29 40 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84533464 84533464 + RNA SNP C C G TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr9:84533464C>G ENST00000527857.1 + 0 3486 NR_026851.1 AAGACCTTTCCTGTCACCAAT 0.478000 6 3 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135692935 135692935 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr5:135692935G>A ENST00000513104.1 - 2 423 c.141C>T c.(139-141)ttC>ttT p.F47F TRPC7_ENST00000426057.2_Silent_p.F47F|TRPC7_ENST00000355180.3_Silent_p.F47F NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 47 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCGAGTCCAGGAAGCGCTCCT 0.602000 86 41 0 0 1 0 0 PTX4 390667 broad.mit.edu 37 16 1537585 1537585 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr16:1537585G>A ENST00000447419.2 - 2 553 c.528C>T c.(526-528)ccC>ccT p.P176P PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.P171P Q96A99 PTX4_HUMAN pentraxin 4, long 176 extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GGTGGGCCACGGGCAGCCGCC 0.721000 16 17 0 0 1 0 0 KLK14 43847 broad.mit.edu 37 19 51585863 51585863 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr19:51585863G>A ENST00000391802.1 - 3 275 c.57C>T c.(55-57)ctC>ctT p.L19L KLK14_ENST00000156499.2_Silent_p.L19L NM_022046.4 NP_071329.2 Q9P0G3 KLK14_HUMAN kallikrein-related peptidase 14 19 epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 11 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) CTGTCAGCAGGAGGAACATTT 0.537000 33 42 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17088080 17088080 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr10:17088080C>T ENST00000377833.4 - 24 3408 c.3343G>A c.(3343-3345)Gaa>Aaa p.E1115K NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1115 CUB 6. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.E1115K(1) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGTGATTTTTCATAGCCTCCA 0.323000 41 6 0 0 1 0 0 GIPC1 10755 broad.mit.edu 37 19 14591238 14591238 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr19:14591238G>A ENST00000393033.4 - 6 803 c.534C>T c.(532-534)atC>atT p.I178I GIPC1_ENST00000591349.1_Silent_p.I81I|GIPC1_ENST00000393028.1_Silent_p.I81I|GIPC1_ENST00000345425.2_Silent_p.I178I|GIPC1_ENST00000586027.1_Silent_p.I178I|GIPC1_ENST00000393029.3_Silent_p.I81I NM_005716.3 NP_005707.1 O14908 GIPC1_HUMAN GIPC PDZ domain containing family, member 1 178 PDZ. endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 TAATGGCCTCGATCATGTCGC 0.662000 OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 105 39 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 99548192 99548192 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr12:99548192G>A ENST00000550693.2 - 1 332 c.79C>T c.(79-81)Cct>Tct p.P27S ANKS1B_ENST00000546568.1_Missense_Mutation_p.P27S|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000549493.2_Missense_Mutation_p.P27S|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000549558.2_Missense_Mutation_p.P27S|ANKS1B_ENST00000332712.7_Missense_Mutation_p.P27S|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000546960.1_Missense_Mutation_p.P27S|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000547776.2_Intron NM_001204069.1|NM_001204070.1 NP_001190998.1|NP_001190999.1 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 0 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GGATGAAGAGGGAAGCGTTTA 0.537000 25 57 0 0 1 0 0 SH2D5 400745 broad.mit.edu 37 1 21048296 21048296 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr1:21048296C>T ENST00000375031.1 - 9 1633 c.1009G>A c.(1009-1011)Ggc>Agc p.G337S SH2D5_ENST00000444387.2_Missense_Mutation_p.G421S|SH2D5_ENST00000460804.1_5'UTR NM_001103160.1 NP_001096630.1 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 337 lung(4)|prostate(1)|upper_aerodigestive_tract(1) 6 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TAGCCCAGGCCCTGCAGCTCT 0.721000 6 13 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28714020 28714020 + Missense_Mutation SNP G G T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr18:28714020G>T ENST00000257197.3 - 13 2211 c.1950C>A c.(1948-1950)gaC>gaA p.D650E DSC1_ENST00000257198.5_Missense_Mutation_p.D650E|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 650 Cadherin 5. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) AACCATGCCTGTCTTTTATTT 0.343000 60 91 3.37043e-27 3.49244e-27 1 1 0 ABCC11 85320 broad.mit.edu 37 16 48220888 48220888 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr16:48220888C>T ENST00000394747.1 - 21 3396 c.3047G>A c.(3046-3048)gGa>gAa p.G1016E ABCC11_ENST00000394748.1_Missense_Mutation_p.G1016E|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.G1016E|ABCC11_ENST00000353782.5_Missense_Mutation_p.G1016E NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 1016 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TTCAGTTTTTCCATAGACATG 0.507000 57 72 0 0 1 0 0 ZYX 7791 broad.mit.edu 37 7 143085408 143085408 + Nonsense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr7:143085408C>T ENST00000322764.5 + 6 1465 c.1120C>T c.(1120-1122)Cag>Tag p.Q374* ZYX_ENST00000449423.2_Nonsense_Mutation_p.Q287*|ZYX_ENST00000392910.2_Nonsense_Mutation_p.Q217* NM_001010972.1|NM_003461.4 NP_001010972.1|NP_003452.1 Q15942 ZYX_HUMAN zyxin 374 cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1) 17 Melanoma(164;0.205) GGAGCATCCTCAGAGGCAGAA 0.677000 31 78 0 0 1 0 0 CASC1 55259 broad.mit.edu 37 12 25263064 25263064 + Silent SNP A A G TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr12:25263064A>G ENST00000354189.5 - 15 2099 c.2064T>C c.(2062-2064)ttT>ttC p.F688F CASC1_ENST00000545133.1_Silent_p.F565F|CASC1_ENST00000537577.1_Silent_p.F512F|CASC1_ENST00000395987.3_Silent_p.F630F|CASC1_ENST00000395990.2_Silent_p.F584F|CASC1_ENST00000320267.9_Silent_p.F624F NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 624 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) ATCATACCTTAAATACGACTT 0.373000 33 26 0 0 1 0 0 IGF2 3481 broad.mit.edu 37 11 2154418 2154418 + Missense_Mutation SNP G G T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr11:2154418G>T ENST00000416167.2 - 4 1508 c.342C>A c.(340-342)ttC>ttA p.F114L IGF2_ENST00000434045.2_Missense_Mutation_p.F170L|IGF2_ENST00000300632.5_Missense_Mutation_p.F114L|IGF2_ENST00000381406.4_Missense_Mutation_p.F117L|IGF2_ENST00000381395.1_Missense_Mutation_p.F114L|IGF2_ENST00000381389.1_Missense_Mutation_p.F114L|IGF2_ENST00000418738.2_Missense_Mutation_p.F114L|IGF2_ENST00000337883.6_Missense_Mutation_p.F114L|IGF2_ENST00000381392.1_Missense_Mutation_p.F117L P01344 IGF2_HUMAN insulin-like growth factor 2 (somatomedin A) 114 glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 6 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) TGTCATATTGGAAGAACTTGC 0.682000 22 26 3.01185e-09 3.05183e-09 1 1 0 NDUFAF2 91942 broad.mit.edu 37 5 60241050 60241050 + Translation_Start_Site SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr5:60241050G>A ENST00000296597.5 + 0 95 NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGCGGGTCCCGCTGCTGGCAG 0.632000 4 17 0 0 1 0 0 IRX5 10265 broad.mit.edu 37 16 54966623 54966623 + Missense_Mutation SNP A A G TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr16:54966623A>G ENST00000394636.4 + 2 800 c.463A>G c.(463-465)Atg>Gtg p.M155V IRX5_ENST00000320990.5_Missense_Mutation_p.M155V|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Missense_Mutation_p.M89V P78411 IRX5_HUMAN iroquois homeobox 5 155 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 CATCACCAAGATGACCCTCAC 0.617000 95 127 0 0 1 0 0 LARP7 51574 broad.mit.edu 37 4 113565994 113565994 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr4:113565994C>T ENST00000509061.1 + 4 493 c.190C>T c.(190-192)Ctt>Ttt p.L64F LARP7_ENST00000344442.5_Missense_Mutation_p.L57F|LARP7_ENST00000324052.6_Missense_Mutation_p.L57F NM_001267039.1 NP_001253968.1 Q4G0J3 LARP7_HUMAN La ribonucleoprotein domain family, member 7 57 HTH La-type RNA-binding. RNA processing nucleoplasm|ribonucleoprotein complex nucleotide binding|RNA binding endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 17 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000603) GGATAGATTTCTTCGAGAACA 0.343000 47 62 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62049952 62049952 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr17:62049952C>T ENST00000435607.1 - 1 326 c.250G>A c.(250-252)Gat>Aat p.D84N SCN4A_ENST00000578147.1_Missense_Mutation_p.D84N NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 84 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TAGTAGGGATCCAGGTCCTCC 0.592000 9 20 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525994 176525994 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr1:176525994C>T ENST00000367662.3 + 2 1700 c.536C>T c.(535-537)aCc>aTc p.T179I PAPPA2_ENST00000367661.3_Missense_Mutation_p.T179I NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 179 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 ATTTTCACAACCCTGAACGAA 0.582000 78 89 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85446857 85446857 + Missense_Mutation SNP T T A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr6:85446857T>A ENST00000369663.5 - 8 1707 c.1370A>T c.(1369-1371)tAt>tTt p.Y457F TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 457 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CACGCCCACATAGGAGGGAGT 0.587000 78 88 0 0 1 0 0 C15orf27 123591 broad.mit.edu 37 15 76496455 76496455 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr15:76496455G>A ENST00000388942.3 + 11 1671 c.1395G>A c.(1393-1395)cgG>cgA p.R465R NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 465 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 CCCTCGCCCGGCCCAGCCCAG 0.647000 78 135 0 0 1 0 0 KCNJ8 3764 broad.mit.edu 37 12 21919504 21919504 + Missense_Mutation SNP A A C TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr12:21919504A>C ENST00000240662.2 - 3 773 c.428T>G c.(427-429)tTt>tGt p.F143C RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 143 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) CCTCCCTCCAAACCCAATGGT 0.428000 26 40 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24480663 24480663 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr22:24480663C>T ENST00000398319.2 + 21 3427 c.3042C>T c.(3040-3042)acC>acT p.T1014T CABIN1_ENST00000263119.5_Silent_p.T1014T|CABIN1_ENST00000405822.2_Silent_p.T964T NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1014 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 GAATTGCCACCATTGTGCCTC 0.512000 47 137 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37333904 37333904 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr22:37333904G>A ENST00000262825.5 + 14 2289 c.2072G>A c.(2071-2073)gGa>gAa p.G691E CSF2RB_ENST00000406230.1_Missense_Mutation_p.G691E|CSF2RB_ENST00000536485.1_Missense_Mutation_p.G632E|CSF2RB_ENST00000403662.3_Missense_Mutation_p.G685E NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 685 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) AGGGTGGGAGGACAGGACCAA 0.642000 20 20 0 0 1 0 0 METTL7A 25840 broad.mit.edu 37 12 51318911 51318911 + Nonsense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr12:51318911G>A ENST00000548553.1 + 2 1071 c.90G>A c.(88-90)tgG>tgA p.W30* METTL7A_ENST00000332160.4_Nonsense_Mutation_p.W30* Q9H8H3 MET7A_HUMAN methyltransferase like 7A 30 endoplasmic reticulum|lipid particle|membrane methyltransferase activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 10 TGTGGAGCTGGATATGCAAAA 0.473000 70 25 0 0 1 0 0 PCDH12 51294 broad.mit.edu 37 5 141336006 141336006 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr5:141336006C>T ENST00000231484.3 - 1 2621 c.1411G>A c.(1411-1413)Gaa>Aaa p.E471K NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 471 Cadherin 5. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGTTGTTTTCCCGCGTGGAG 0.478000 56 20 0 0 1 0 0 PHKA1 5255 broad.mit.edu 37 X 71812989 71812989 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:71812989C>T ENST00000373545.3 - 29 3520 c.3082G>A c.(3082-3084)Gga>Aga p.G1028R PHKA1_ENST00000373539.3_Missense_Mutation_p.G1087R|PHKA1_ENST00000541944.1_Missense_Mutation_p.G998R|PHKA1_ENST00000373542.4_Missense_Mutation_p.G1070R|PHKA1_ENST00000339490.3_Missense_Mutation_p.G1057R P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 1070 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) TGATAAAATCCAACTGGAACT 0.428000 65 67 0 0 1 0 0 NUTM2G 441457 broad.mit.edu 37 9 99694529 99694529 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr9:99694529G>A ENST00000354649.3 + 2 1257 c.542G>A c.(541-543)gGg>gAg p.G181E NUTM2G_ENST00000372322.3_Missense_Mutation_p.G181E|HIATL2_ENST00000506067.1_Intron NM_001045477.2 NP_001038942.1 NUT family member 2G TGGCCACAAGGGGCTCATGGA 0.662000 72 104 0 0 1 0 0 RERGL 79785 broad.mit.edu 37 12 18234164 18234164 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr12:18234164C>T ENST00000229002.2 - 6 785 c.579G>A c.(577-579)ttG>ttA p.L193L RERGL_ENST00000538724.1_Silent_p.L192L NM_024730.2 NP_079006.1 Q9H628 RERGL_HUMAN RERG/RAS-like 193 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 CATTATTGATCAATTTGGCCA 0.343000 19 32 0 0 1 0 0 FBXO16 157574 broad.mit.edu 37 8 28321140 28321140 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr8:28321140G>A ENST00000380254.2 - 4 479 c.331C>T c.(331-333)Cgt>Tgt p.R111C FBXO16_ENST00000346498.2_Missense_Mutation_p.R99C|FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000518734.1_Missense_Mutation_p.R99C NM_001258211.1|NM_172366.3 NP_001245140.1|NP_758954.1 Q8IX29 FBX16_HUMAN F-box protein 16 111 F-box. large_intestine(2)|ovary(1) 3 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) TGTGCACAACGACAAAGGCTC 0.448000 19 24 0 0 1 0 0 MICALL2 79778 broad.mit.edu 37 7 1498827 1498827 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr7:1498827C>T ENST00000297508.7 - 1 311 c.136G>A c.(136-138)Gac>Aac p.D46N MICALL2_ENST00000405088.4_Intron NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 46 CH. cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) TACATGAGGTCGGGCCGGTGG 0.662000 22 24 0 0 1 0 0 OR8A1 390275 broad.mit.edu 37 11 124440316 124440316 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr11:124440316C>T ENST00000284287.3 + 1 424 c.352C>T c.(352-354)Ctc>Ttc p.L118F NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) CATGTCACAGCTCTACTTCTT 0.468000 46 16 0 0 1 0 0 PIWIL2 55124 broad.mit.edu 37 8 22146174 22146174 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr8:22146174C>T ENST00000356766.6 + 8 1129 c.981C>T c.(979-981)ttC>ttT p.F327F PIWIL2_ENST00000454009.2_Silent_p.F327F|PIWIL2_ENST00000521356.1_Silent_p.F327F NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 327 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) ATGTTGTTTTCCGTCGGTAAG 0.398000 34 39 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108382693 108382693 + Nonsense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr11:108382693G>A ENST00000265843.4 - 6 3651 c.3541C>T c.(3541-3543)Caa>Taa p.Q1181* EXPH5_ENST00000525344.1_Nonsense_Mutation_p.Q1174*|EXPH5_ENST00000428840.1_Nonsense_Mutation_p.Q1105*|EXPH5_ENST00000443411.1_Nonsense_Mutation_p.Q993* NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1181 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTTTCCTTTTGGTGTTGTCTT 0.418000 38 14 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121747275 121747275 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr2:121747275C>T ENST00000452319.1 + 14 3845 c.3785C>T c.(3784-3786)gCc>gTc p.A1262V GLI2_ENST00000361492.4_Missense_Mutation_p.A1262V|GLI2_ENST00000314490.11_Intron P10070 GLI2_HUMAN GLI family zinc finger 2 1262 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) ATCAGTGGGGCCCTCAACCAG 0.632000 28 72 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139268748 139268748 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr7:139268748G>A ENST00000406875.3 - 13 2874 c.2780C>T c.(2779-2781)tCc>tTc p.S927F HIPK2_ENST00000342645.6_Missense_Mutation_p.S827F|HIPK2_ENST00000428878.2_Missense_Mutation_p.S900F NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 927 Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity). apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) GGAGGAGTCGGAGTAGGGGGA 0.552000 33 103 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2813161 2813161 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr8:2813161C>T ENST00000602557.1 - 65 10502 c.9947G>A c.(9946-9948)aGa>aAa p.R3316K CSMD1_ENST00000542608.1_Missense_Mutation_p.R3138K|CSMD1_ENST00000537824.1_Missense_Mutation_p.R3315K|CSMD1_ENST00000520002.1_Missense_Mutation_p.R3316K|CSMD1_ENST00000602723.1_Missense_Mutation_p.R3139K|CSMD1_ENST00000400186.3_Missense_Mutation_p.R3139K Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3316 Sushi 28. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTTACATGTTCTGTGCTCAGA 0.483000 40 54 0 0 1 0 0 KDM4D 55693 broad.mit.edu 37 11 94731548 94731548 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr11:94731548C>T ENST00000335080.5 + 3 1844 c.1012C>T c.(1012-1014)Cgt>Tgt p.R338C KDM4D_ENST00000536741.1_Missense_Mutation_p.R338C NM_018039.2 NP_060509.2 Q6B0I6 KDM4D_HUMAN lysine (K)-specific demethylase 4D 338 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.R338C(1) endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CCTGTGGAAACGTGGGCAAGA 0.587000 28 16 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47530677 47530677 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr14:47530677G>A ENST00000426342.1 - 7 1152 c.406C>T c.(406-408)Cct>Tct p.P136S MDGA2_ENST00000357362.3_Missense_Mutation_p.P136S|MDGA2_ENST00000439988.2_Missense_Mutation_p.P365S|MDGA2_ENST00000399232.2_Missense_Mutation_p.P434S NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 365 Ig-like 2. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TCCTCAGAAGGAACAGCTTCT 0.423000 67 65 0 0 1 0 0 PDPN 10630 broad.mit.edu 37 1 13940856 13940856 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr1:13940856C>T ENST00000294489.6 + 5 1001 c.660C>T c.(658-660)ttC>ttT p.F220F PDPN_ENST00000509009.1_Silent_p.F139F|PDPN_ENST00000376061.4_Silent_p.F102F|PDPN_ENST00000513143.1_Silent_p.F102F|PDPN_ENST00000487038.1_Silent_p.F102F|PDPN_ENST00000475043.1_Silent_p.F102F|PDPN_ENST00000376057.4_Silent_p.F220F Q86YL7 PDPN_HUMAN podoplanin 144 cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) CCATCGGCTTCATTGGTGCAA 0.448000 50 70 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9049622 9049622 + Missense_Mutation SNP A A G TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr19:9049622A>G ENST00000397910.4 - 5 32212 c.32009T>C c.(32008-32010)cTg>cCg p.L10670P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10672 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGACTTAGTCAGTGTTGGGAA 0.458000 57 18 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129001248 129001248 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr5:129001248G>A ENST00000274487.4 + 16 2609 c.2464G>A c.(2464-2466)Gaa>Aaa p.E822K CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 822 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) AGTTGTGGAGGAAAAGCCGGC 0.433000 12 4 0 0 1 0 0 PRSS22 64063 broad.mit.edu 37 16 2903184 2903184 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr16:2903184G>A ENST00000161006.3 - 6 929 c.864C>T c.(862-864)atC>atT p.I288I PRSS22_ENST00000571228.1_Silent_p.I178I NM_022119.3 NP_071402.1 Q9GZN4 BSSP4_HUMAN protease, serine, 22 288 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2) 10 CCCCTTGCACGATCTTCTCCA 0.736000 27 37 0 0 1 0 0 ZNF598 90850 broad.mit.edu 37 16 2048255 2048255 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr16:2048255G>A ENST00000563630.1 - 12 2770 c.2528C>T c.(2527-2529)gCc>gTc p.A843V ZNF598_ENST00000431526.1_Missense_Mutation_p.A898V|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Missense_Mutation_p.A843V Q86UK7 ZN598_HUMAN zinc finger protein 598 898 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 CCTGGCGATGGCTTGCAGGGA 0.682000 127 224 0 0 1 0 0 KLK14 43847 broad.mit.edu 37 19 51585862 51585862 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr19:51585862G>A ENST00000391802.1 - 3 276 c.58C>T c.(58-60)Ctg>Ttg p.L20L KLK14_ENST00000156499.2_Silent_p.L20L NM_022046.4 NP_071329.2 Q9P0G3 KLK14_HUMAN kallikrein-related peptidase 14 20 epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 11 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) GCTGTCAGCAGGAGGAACATT 0.537000 33 41 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28714022 28714022 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr18:28714022C>T ENST00000257197.3 - 13 2209 c.1948G>A c.(1948-1950)Gac>Aac p.D650N DSC1_ENST00000257198.5_Missense_Mutation_p.D650N|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 650 Cadherin 5. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CCATGCCTGTCTTTTATTTGA 0.348000 60 88 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9066060 9066060 + Missense_Mutation SNP A A C TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr19:9066060A>C ENST00000397910.4 - 3 21589 c.21386T>G c.(21385-21387)cTt>cGt p.L7129R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7131 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGAGGTGAGAAGTGAAGTCAC 0.512000 70 23 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82436054 82436054 + Silent SNP T T G TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr1:82436054T>G ENST00000370728.1 + 18 3423 c.2778T>G c.(2776-2778)gcT>gcG p.A926A LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Silent_p.A926A|LPHN2_ENST00000319517.6_Silent_p.A913A|LPHN2_ENST00000370721.1_Silent_p.A851A|LPHN2_ENST00000370723.1_Silent_p.A913A|LPHN2_ENST00000370725.1_Silent_p.A926A|LPHN2_ENST00000370727.1_Silent_p.A926A|LPHN2_ENST00000394879.1_Silent_p.A913A|LPHN2_ENST00000359929.3_Silent_p.A913A|LPHN2_ENST00000335786.5_Silent_p.A926A|LPHN2_ENST00000370730.1_Silent_p.A926A|LPHN2_ENST00000271029.4_Silent_p.A926A|LPHN2_ENST00000370713.1_Silent_p.A913A|LPHN2_ENST00000370715.1_Silent_p.A913A O95490 LPHN2_HUMAN latrophilin 2 926 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CAGCTTTTGCTTGGATGTGCC 0.358000 59 24 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34089744 34089744 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr20:34089744C>T ENST00000397527.1 + 29 4691 c.3971C>T c.(3970-3972)tCc>tTc p.S1324F CEP250_ENST00000342580.4_Missense_Mutation_p.S1268F NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1324 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) ACTATGGCATCCTTACAGAGT 0.512000 29 47 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73047198 73047198 + RNA SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:73047198G>A ENST00000604411.1 + 0 35159 XIST_ENST00000429829.1_lincRNA NR_003255.2 CAAAGAGAGGGAGATAGATTC 0.393000 28 25 0 0 1 0 0 PHF21B 112885 broad.mit.edu 37 22 45281376 45281376 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr22:45281376C>T ENST00000313237.5 - 12 1457 c.1307G>A c.(1306-1308)cGa>cAa p.R436Q PHF21B_ENST00000396103.3_Missense_Mutation_p.R394Q|PHF21B_ENST00000403565.1_Missense_Mutation_p.R232Q|PHF21B_ENST00000404079.2_Missense_Mutation_p.R382Q NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 436 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) CTCACTGCCTCGTTGCAGCAG 0.637000 18 5 0 0 1 0 0 FAM46D 169966 broad.mit.edu 37 X 79698321 79698321 + Missense_Mutation SNP G G A rs141007953 byFrequency TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:79698321G>A ENST00000538312.1 + 5 617 c.283G>A c.(283-285)Gaa>Aaa p.E95K FAM46D_ENST00000308293.5_Missense_Mutation_p.E95K NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 95 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 TCCAGGTAACGAAGAATTTCA 0.388000 29 97 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38942478 38942478 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr19:38942478C>T ENST00000355481.4 + 12 1328 c.1197C>T c.(1195-1197)gcC>gcT p.A399A RYR1_ENST00000359596.3_Silent_p.A399A|RYR1_ENST00000360985.3_Silent_p.A399A NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 399 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGTCCCAGGCCGCCCGCATGA 0.632000 59 55 0 0 1 0 0 HES6 55502 broad.mit.edu 37 2 239147614 239147614 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr2:239147614G>A ENST00000272937.5 - 4 747 c.529C>T c.(529-531)Cct>Tct p.P177S HES6_ENST00000409574.1_3'UTR|HES6_ENST00000409160.3_3'UTR|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409002.3_Missense_Mutation_p.P175S|HES6_ENST00000409182.1_Missense_Mutation_p.P148S Q96HZ4 HES6_HUMAN hes family bHLH transcription factor 6 177 cell differentiation transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity lung(1)|skin(1) 2 Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148) TCGTCCCCAGGACCCGGGGGG 0.731000 7 18 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120770263 120770263 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr7:120770263G>A ENST00000310396.5 + 12 1959 c.1492G>A c.(1492-1494)Gtc>Atc p.V498I CPED1_ENST00000423795.1_Missense_Mutation_p.V278I|CPED1_ENST00000450913.2_Missense_Mutation_p.V498I NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 TCCTGGCTCAGTCCTGACCCA 0.403000 52 112 0 0 1 0 0 SHROOM2 357 broad.mit.edu 37 X 9907235 9907235 + Splice_Site SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:9907235G>A ENST00000380913.3 + 8 4230 c.4139_splice c.e8-1 p.R1380_splice SHROOM2_ENST00000418909.2_Splice_Site_p.R215_splice NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1380 ASD2. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) CTTTACCCAGGAAAGAGGAGC 0.597000 12 17 0 0 1 0 0 SLC28A1 9154 broad.mit.edu 37 15 85488081 85488081 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr15:85488081C>T ENST00000394573.1 + 18 2059 c.1857C>T c.(1855-1857)tgC>tgT p.C619C SLC28A1_ENST00000286749.3_Silent_p.C619C|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000538177.1_Silent_p.C453C|SLC28A1_ENST00000537624.1_Silent_p.C619C NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 619 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) ACCAGTGCTGCCGTGAGGCCT 0.592000 51 89 0 0 1 0 0 VAC14 55697 broad.mit.edu 37 16 70721869 70721869 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr16:70721869C>T ENST00000261776.5 - 19 2571 c.2311G>A c.(2311-2313)Ggg>Agg p.G771R VAC14_ENST00000571759.1_5'UTR|VAC14_ENST00000536184.2_Missense_Mutation_p.G203R NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 771 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) TCCCCACGCCCGCTCCGCTGG 0.632000 21 33 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62135243 62135243 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr17:62135243G>A ENST00000433197.2 - 12 1412 c.1317C>T c.(1315-1317)tcC>tcT p.S439S NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 439 activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 CCTTAAGCATGGAGTCCACGG 0.587000 24 26 0 0 1 0 0 SLAIN1 122060 broad.mit.edu 37 13 78318483 78318483 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr13:78318483G>A ENST00000466548.1 + 4 792 c.766G>A c.(766-768)Gaa>Aaa p.E256K SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000488699.1_Missense_Mutation_p.E114K|SLAIN1_ENST00000418532.1_Missense_Mutation_p.E37K|SLAIN1_ENST00000351546.3_5'UTR|SLAIN1_ENST00000267219.8_Missense_Mutation_p.E37K|SLAIN1_ENST00000358679.3_5'UTR|SLAIN1_ENST00000314070.5_5'UTR NM_001242868.1 NP_001229797.1 Q8ND83 SLAI1_HUMAN SLAIN motif family, member 1 256 breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0853) GAGTACTTCAGAATTGGAGGA 0.443000 33 11 0 0 1 0 0 DOCK5 80005 broad.mit.edu 37 8 25265592 25265592 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr8:25265592C>T ENST00000276440.7 + 49 5231 c.5187C>T c.(5185-5187)atC>atT p.I1729I NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1729 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) AGAACCGGATCAGCAAGTTTA 0.473000 13 8 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47884605 47884605 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr7:47884605G>A ENST00000289672.2 - 33 5275 c.5225C>T c.(5224-5226)tCc>tTc p.S1742F NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1742 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CTGTAGCTTGGAAATGTCACT 0.458000 22 31 0 0 1 0 0 OLFM4 10562 broad.mit.edu 37 13 53603158 53603158 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr13:53603158G>A ENST00000219022.2 + 1 265 c.187G>A c.(187-189)Gga>Aga p.G63R NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 63 Ser-rich. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) cTTAGGCAGCGGAGGTTCTGT 0.567000 69 23 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70683860 70683860 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:70683860C>T ENST00000449580.1 + 39 5736 c.5685C>T c.(5683-5685)tcC>tcT p.S1895S TAF1_ENST00000461764.1_Intron|TAF1_ENST00000423759.1_Silent_p.S1884S|TAF1_ENST00000276072.3_Silent_p.S1882S|TAF1_ENST00000373790.4_Silent_p.S1861S P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1861 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) ATTTCCACTCCATTGCTGGGG 0.567000 8 9 0 0 1 0 0 MAP4K4 9448 broad.mit.edu 37 2 102505276 102505276 + Missense_Mutation SNP A A T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr2:102505276A>T ENST00000413150.2 + 28 3315 c.3260A>T c.(3259-3261)cAg>cTg p.Q1087L MAP4K4_ENST00000350198.4_Missense_Mutation_p.Q1099L|MAP4K4_ENST00000347699.4_Missense_Mutation_p.Q1172L|MAP4K4_ENST00000302217.5_Missense_Mutation_p.Q975L|MAP4K4_ENST00000324219.4_Missense_Mutation_p.Q1253L|MAP4K4_ENST00000350878.4_Missense_Mutation_p.Q1212L|MAP4K4_ENST00000456652.1_Missense_Mutation_p.Q971L|MAP4K4_ENST00000425019.1_Missense_Mutation_p.Q1205L NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 1172 CNH.|Mediates interaction with RAP2A. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CGATCCAATCAGACAATGGGC 0.408000 14 14 0 0 1 0 0 OR51D1 390038 broad.mit.edu 37 11 4661848 4661848 + Missense_Mutation SNP G G C TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr11:4661848G>C ENST00000357605.2 + 1 904 c.828G>C c.(826-828)agG>agC p.R276S NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGTGCATAGGCTGGGTGGTC 0.552000 84 116 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55222163 55222163 + RNA SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr19:55222163C>T ENST00000413439.1 + 0 1690 TGTCTCACCCCAGTGACCCCC 0.627000 41 95 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179453655 179453655 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr2:179453655C>T ENST00000589042.1 - 304 63021 c.62797G>A c.(62797-62799)Gaa>Aaa p.E20933K TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19292K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18365K|TTN_ENST00000342175.6_Missense_Mutation_p.E12060K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11993K|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11868K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19292 Ig-like 112. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAAATATATTCATTTCCTTCT 0.398000 17 25 0 0 1 0 0 FAM160A2 84067 broad.mit.edu 37 11 6232955 6232955 + Silent SNP A A C TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr11:6232955A>C ENST00000265978.4 - 12 3100 c.2742T>G c.(2740-2742)gcT>gcG p.A914A FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Silent_p.A900A NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 900 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CTGGAGTTGAAGCCCCAGGGG 0.607000 85 111 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18331671 18331671 + Nonsense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr10:18331671G>A ENST00000377369.2 + 13 2258 c.1985G>A c.(1984-1986)tGg>tAg p.W662* SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.W528*|SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.W661*|SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.W625* NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 662 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 CAACGACCCTGGATGATGTTT 0.368000 36 14 0 0 1 0 0 ELOVL4 6785 broad.mit.edu 37 6 80634669 80634669 + Splice_Site SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr6:80634669C>T ENST00000369816.4 - 3 669 c.369_splice c.e3+1 p.R123_splice NM_022726.3 NP_073563.1 Q9GZR5 ELOV4_HUMAN ELOVL fatty acid elongase 4 123 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups p.R123R(1) central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) ATGTACTTACCCTGACTTCAT 0.303000 29 31 0 0 1 0 0 GZMB 3002 broad.mit.edu 37 14 25101304 25101304 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr14:25101304C>T ENST00000526004.1 - 3 259 c.224G>A c.(223-225)gGa>gAa p.G75E RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382540.1_Silent_p.R75R|GZMB_ENST00000382542.1_Silent_p.R154R|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000216341.4_Silent_p.R120R|GZMB_ENST00000415355.3_Silent_p.R108R P10144 GRAB_HUMAN granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 205 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2) 13 GBM - Glioblastoma multiforme(265;0.028) CAGCTCTGGTCCGCTTGGCCT 0.632000 28 47 0 0 1 0 0 TYR 7299 broad.mit.edu 37 11 88924449 88924449 + Missense_Mutation SNP A A C TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr11:88924449A>C ENST00000263321.5 + 2 1401 c.899A>C c.(898-900)aAt>aCt p.N300T TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 300 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TTACGGCGTAATCCTGGAAAC 0.473000 86 34 0 0 1 0 0 DIAPH2 1730 broad.mit.edu 37 X 95940190 95940190 + Splice_Site SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:95940190G>A ENST00000324765.8 + 1 479 c.e1+1 DIAPH2_ENST00000355827.4_Splice_Site|DIAPH2_ENST00000373061.3_Splice_Site|DIAPH2_ENST00000373054.4_Splice_Site|DIAPH2_ENST00000373049.4_Splice_Site O60879 DIAP2_HUMAN diaphanous-related formin 2 cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 ACCCAAATTGGTGAGTGCTCC 0.682000 18 14 0 0 1 0 0 GLIPR1 11010 broad.mit.edu 37 12 75874744 75874744 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr12:75874744C>T ENST00000266659.3 + 1 285 c.84C>T c.(82-84)atC>atT p.I28I NM_006851.2 NP_006842.2 P48060 GLIP1_HUMAN GLI pathogenesis-related 1 28 cellular lipid metabolic process extracellular region|integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 14 TGCCAGATATCGAAAATGAAG 0.403000 43 53 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70357586 70357586 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:70357586C>T ENST00000333646.6 + 41 6045 c.5846C>T c.(5845-5847)cCt>cTt p.P1949L MED12_ENST00000374080.3_Missense_Mutation_p.P1946L|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_Missense_Mutation_p.P1945L NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1946 Gln-rich.|Interaction with CTNNB1 and GLI3. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) GGCTATACTCCTTATGTTTCT 0.567000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 13 42 0 0 1 0 0 EIF5B 9669 broad.mit.edu 37 2 99999343 99999343 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr2:99999343C>T ENST00000289371.5 + 14 2432 c.2230C>T c.(2230-2232)Ctc>Ttc p.L744F NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 744 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TATCAACCTTCTCAAATCTAA 0.348000 17 23 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222794514 222794514 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr1:222794514C>T ENST00000344922.5 + 2 172 c.147C>T c.(145-147)cgC>cgT p.R49R MIA3_ENST00000344507.1_Silent_p.R49R|MIA3_ENST00000344441.6_Silent_p.R49R|MIA3_ENST00000470521.1_3'UTR NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 49 SH3. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TAATGTACCGCGGTGAGGCTC 0.363000 17 26 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55086976 55086976 + Silent SNP C C A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr19:55086976C>A ENST00000251377.3 + 6 1042 c.909C>A c.(907-909)tcC>tcA p.S303S LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.S303S|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.S291S|LILRA2_ENST00000251376.3_Silent_p.S303S leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 p.S303S(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) ACCTCTCCTCCGAGTGGTCGG 0.672000 53 79 1.0442e-30 1.09188e-30 1 1 0 PDE1A 5136 broad.mit.edu 37 2 183094807 183094807 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr2:183094807G>A ENST00000435564.1 - 6 849 c.649C>T c.(649-651)Cca>Tca p.P217S PDE1A_ENST00000456212.1_Missense_Mutation_p.P217S|PDE1A_ENST00000351439.5_Missense_Mutation_p.P201S|PDE1A_ENST00000331935.6_Missense_Mutation_p.P217S|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Missense_Mutation_p.P183S|PDE1A_ENST00000410103.1_Missense_Mutation_p.P217S|PDE1A_ENST00000536095.1_Missense_Mutation_p.P113S|PDE1A_ENST00000409365.1_Missense_Mutation_p.P201S|PDE1A_ENST00000358139.2_Missense_Mutation_p.P217S NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 217 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TTGTGATATGGATTTTTGTAC 0.343000 43 68 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104140982 104140982 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr10:104140982C>T ENST00000369983.3 + 39 5529 c.5269C>T c.(5269-5271)Cca>Tca p.P1757S NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 1757 Pro-rich. COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) TCCACCGCCCCCAGAGATTCC 0.627000 30 10 0 0 1 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123166368 123166368 + Missense_Mutation SNP T T A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr9:123166368T>A ENST00000349780.4 - 33 5166 c.4987A>T c.(4987-4989)Agt>Tgt p.S1663C CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S1584C|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1622C|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1631C NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1663 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 GAATTATCACTTTCCATGGGA 0.408000 39 6 0 0 1 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173659879 173659879 + Silent SNP G G C TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr2:173659879G>C ENST00000264111.6 + 2 379 c.192G>C c.(190-192)ctG>ctC p.L64L RAPGEF4_ENST00000409036.1_Silent_p.L64L|RAPGEF4_ENST00000397081.3_Silent_p.L64L Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 64 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) ATGAGAATCTGGAAAAGGGAA 0.328000 10 159 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101870646 101870646 + Splice_Site SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr7:101870646G>A ENST00000360264.3 + 21 3183 c.e21-1 CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Splice_Site|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000550008.2_Splice_Site|CUX1_ENST00000549414.2_Splice_Site|CUX1_ENST00000556210.1_Splice_Site|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Splice_Site NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 TTTAATTACAGAAAGCACTCC 0.512000 119 174 0 0 1 0 0 FKBP1A 2280 broad.mit.edu 37 20 1356212 1356212 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr20:1356212G>A ENST00000400137.4 - 3 284 c.121C>T c.(121-123)Cgg>Tgg p.R41W SDCBP2-AS1_ENST00000446423.1_RNA|FKBP1A_ENST00000439640.2_Missense_Mutation_p.R25W|FKBP1A_ENST00000381719.3_Missense_Mutation_p.R41W|FKBP1A_ENST00000381724.3_Missense_Mutation_p.R36W|FKBP1A_ENST00000381715.1_Missense_Mutation_p.R36W NM_000801.4 NP_000792.1 P62942 FKB1A_HUMAN FK506 binding protein 1A, 12kDa 41 PPIase FKBP-type. 'de novo' protein folding|beta-amyloid formation|fibril organization|heart trabecula formation|negative regulation of protein phosphatase type 2B activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein binding|positive regulation of protein ubiquitination|protein maturation by protein folding|protein refolding|regulation of activin receptor signaling pathway|regulation of immune response|regulation of ryanodine-sensitive calcium-release channel activity|SMAD protein complex assembly|T cell activation|ventricular cardiac muscle tissue morphogenesis axon|cytosol|sarcoplasmic reticulum membrane|terminal cisterna activin binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity|signal transducer activity|SMAD binding|type I transforming growth factor beta receptor binding central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1) 3 Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864) TTTCTGTCCCGGGAGGAATCA 0.463000 22 3 0 0 1 0 0 ERAP2 64167 broad.mit.edu 37 5 96232551 96232551 + Nonsense_Mutation SNP G G A rs144069129 TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr5:96232551G>A ENST00000437043.3 + 9 2198 c.1487G>A c.(1486-1488)tGg>tAg p.W496* ERAP2_ENST00000379904.4_Nonsense_Mutation_p.W451*|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000515095.1_3'UTR NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 496 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) GATGACTTGTGGAGCAGTCTG 0.318000 43 20 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97823529 97823529 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr7:97823529C>T ENST00000297293.5 + 11 4045 c.3752C>T c.(3751-3753)tCc>tTc p.S1251F NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1251 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TCCAGCCACTCCGAGGGCCCG 0.612000 24 34 0 0 1 0 0 HSD3B7 80270 broad.mit.edu 37 16 30997501 30997501 + Missense_Mutation SNP A A G TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr16:30997501A>G ENST00000262520.6 + 3 588 c.298A>G c.(298-300)Acc>Gcc p.T100A AC135048.1_ENST00000602217.1_Silent_p.G11G|HSD3B7_ENST00000297679.5_Missense_Mutation_p.T100A|HSD3B7_ENST00000353250.5_Missense_Mutation_p.T100A NM_001142777.1 NP_001136249.1 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 100 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CAGTCCCAAGACCATCCATGA 0.617000 21 28 0 0 1 0 0 PROC 5624 broad.mit.edu 37 2 128178923 128178923 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr2:128178923C>T ENST00000453608.2 + 3 206 c.198C>T c.(196-198)tcC>tcT p.S66S PROC_ENST00000409048.1_Silent_p.S45S|PROC_ENST00000234071.3_Silent_p.S45S|PROC_ENST00000422777.3_Silent_p.S45S P04070 PROC_HUMAN protein C (inactivator of coagulation factors Va and VIIIa) 45 Gla. blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) GTGCCAACTCCTTCCTGGAGG 0.577000 40 87 0 0 1 0 0 CCL4 6351 broad.mit.edu 37 17 34432694 34432694 + Nonsense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr17:34432694G>A ENST00000394495.1 + 2 232 c.153G>A c.(151-153)tgG>tgA p.W51* CCL4_ENST00000250151.4_Missense_Mutation_p.E90K P13236 CCL4_HUMAN chemokine (C-C motif) ligand 4 0 cell adhesion|cell-cell signaling|cellular component movement|chemotaxis|establishment or maintenance of cell polarity|immune response|inflammatory response|response to virus|viral genome replication extracellular space chemokine activity|receptor signaling protein tyrosine kinase activity endometrium(1)|large_intestine(1)|lung(2) 4 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GTATGACCTGGAACTGAACTG 0.512000 58 23 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123900476 123900476 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr11:123900476G>A ENST00000431524.1 + 1 180 c.147G>A c.(145-147)gtG>gtA p.V49V NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TGATCAGGGTGGATTCTCACC 0.557000 89 35 0 0 1 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55304265 55304265 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr6:55304265C>T ENST00000398661.2 - 9 1109 c.978G>A c.(976-978)ttG>ttA p.L326L HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000274901.4_Silent_p.L296L|HMGCLL1_ENST00000370850.2_Silent_p.L193L|HMGCLL1_ENST00000308161.4_Silent_p.L264L|HMGCLL1_ENST00000508459.1_Silent_p.L130L NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 326 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) GCATATATATCAAATCCTCAG 0.418000 43 63 0 0 1 0 0 FOXJ1 2302 broad.mit.edu 37 17 74136327 74136327 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr17:74136327G>A ENST00000322957.6 - 2 504 c.150C>T c.(148-150)ccC>ccT p.P50P NM_001454.3 NP_001445.2 Q92949 FOXJ1_HUMAN forkhead box J1 50 actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(1)|liver(1)|pancreas(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(166;0.187) GGGGCAGGGCGGGGGCCTTGG 0.756000 12 12 0 0 1 0 0 FUT3 2525 broad.mit.edu 37 19 5844183 5844183 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr19:5844183C>T ENST00000303225.6 - 3 1302 c.668G>A c.(667-669)gGa>gAa p.G223E FUT3_ENST00000589918.1_Missense_Mutation_p.G223E|FUT3_ENST00000458379.2_Missense_Mutation_p.G223E|FUT3_ENST00000589620.1_Missense_Mutation_p.G223E NM_000149.3 NP_000140.1 P21217 FUT3_HUMAN fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 223 G -> R (in Le(-); dbSNP:rs28362466). protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 GTGGGAGCGTCCGTACACGTC 0.622000 73 24 0 0 1 0 0 PRR23A 729627 broad.mit.edu 37 3 138724786 138724786 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr3:138724786C>T ENST00000383163.2 - 1 324 c.325G>A c.(325-327)Gac>Aac p.D109N MRPS22_ENST00000495075.1_5'UTR NM_001134659.1 NP_001128131.1 A6NEV1 PR23A_HUMAN proline rich 23A 109 endometrium(3)|kidney(1)|lung(7) 11 GAGCGTTCGTCGACAGAGCTC 0.617000 19 6 0 0 1 0 0 MVB12A 93343 broad.mit.edu 37 19 17534839 17534839 + Missense_Mutation SNP T T C TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr19:17534839T>C ENST00000317040.7 + 7 1720 c.665T>C c.(664-666)cTc>cCc p.L222P MVB12A_ENST00000543795.1_Missense_Mutation_p.L222P|MVB12A_ENST00000528515.1_Missense_Mutation_p.S180P|MVB12A_ENST00000392702.2_Missense_Mutation_p.L182P|MVB12A_ENST00000529939.1_Missense_Mutation_p.L222P multivesicular body subunit 12A CCCTTCACACTCCACCCACGA 0.632000 57 17 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134628087 134628087 + Missense_Mutation SNP C C A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr10:134628087C>A ENST00000368586.5 - 53 7379 c.7279G>T c.(7279-7281)Ggc>Tgc p.G2427C TTC40_ENST00000263170.5_Missense_Mutation_p.G588C NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 588 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CCACCTGGGCCCTGGGCCTCC 0.692000 2 0 0.0784 0.0784 1 1 0 MARCH10 162333 broad.mit.edu 37 17 60813798 60813798 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr17:60813798C>T ENST00000544856.2 - 7 1806 c.1428G>A c.(1426-1428)atG>atA p.M476I MARCH10_ENST00000456609.2_Missense_Mutation_p.M477I|MARCH10_ENST00000583600.1_Missense_Mutation_p.M515I|MARCH10_ENST00000311269.5_Missense_Mutation_p.M477I|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 477 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 GAGCAGAATGCATGAATGATG 0.408000 72 103 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872939 51872939 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr20:51872939C>T ENST00000371497.5 + 2 3829 c.2942C>T c.(2941-2943)cCa>cTa p.P981L TSHZ2_ENST00000329613.6_Missense_Mutation_p.P978L|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P978L|RP4-678D15.1_ENST00000606932.1_RNA NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 981 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 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) CAGAGGTCTCCAGAAACAATA 0.502000 33 55 0 0 1 0 0 SLC25A1 6576 broad.mit.edu 37 22 19163956 19163956 + Missense_Mutation SNP G G C TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr22:19163956G>C ENST00000215882.5 - 8 955 c.799C>G c.(799-801)Ctg>Gtg p.L267V SLC25A1_ENST00000451283.1_Missense_Mutation_p.L164V NM_005984.3 NP_005975.1 P53007 TXTP_HUMAN solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 267 gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process integral to membrane|mitochondrial inner membrane citrate transmembrane transporter activity|protein binding cervix(1)|lung(1) 2 Colorectal(54;0.0993) all_lung(157;9.94e-09) Lung(27;0.124) TCCTTCTTCAGGATCTGCAAG 0.642000 12 200 0 0 1 0 0 CNOT6 57472 broad.mit.edu 37 5 180001196 180001196 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr5:180001196G>A ENST00000393356.1 + 14 2094 c.1670G>A c.(1669-1671)aGg>aAg p.R557K CNOT6_ENST00000261951.4_Missense_Mutation_p.R557K Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 557 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) CCTGGCAGGAGGTAGTCAAGC 0.507000 42 12 0 0 1 0 0 FAR2P3 100288897 broad.mit.edu 37 2 131459994 131459994 + RNA SNP A A C TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr2:131459994A>C ENST00000425151.1 + 0 521 CATTGGAAGGAAACCCAGGTG 0.478000 3 7 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97823530 97823530 + Silent SNP C C T rs148048560 byFrequency TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr7:97823530C>T ENST00000297293.5 + 11 4046 c.3753C>T c.(3751-3753)tcC>tcT p.S1251S NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1251 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CCAGCCACTCCGAGGGCCCGA 0.612000 22 34 0 0 1 0 0 TMEM168 64418 broad.mit.edu 37 7 112424013 112424013 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr7:112424013G>A ENST00000312814.5 - 2 1428 c.868C>T c.(868-870)Ctc>Ttc p.L290F TMEM168_ENST00000454074.1_Missense_Mutation_p.L290F NM_022484.4 NP_071929.3 Q9H0V1 TM168_HUMAN transmembrane protein 168 290 integral to membrane|transport vesicle breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1) 32 AAATACCAGAGGTGAGTGTCT 0.343000 146 416 0 0 1 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64132850 64132850 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr3:64132850G>A ENST00000295902.6 - 7 1901 c.1316C>T c.(1315-1317)cCc>cTc p.P439L PRICKLE2_ENST00000564377.1_Missense_Mutation_p.P495L NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 439 cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CCACATTTCGGGCTGGGCCCC 0.572000 73 26 0 0 1 0 0 APOBEC3F 200316 broad.mit.edu 37 22 39441509 39441509 + Silent SNP T T C TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr22:39441509T>C ENST00000308521.5 + 4 885 c.528T>C c.(526-528)aaT>aaC p.N176N APOBEC3G_ENST00000452957.2_Intron NM_145298.5 NP_660341.2 Q9HC16 ABC3G_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F 181 base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) TCGATGACAATTATGCATTCC 0.512000 223 478 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50408878 50408878 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr20:50408878G>A ENST00000217086.4 - 2 255 c.144C>T c.(142-144)aaC>aaT p.N48N SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Silent_p.N48N NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 48 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCCCTGGGTGGTTCACTGGAG 0.542000 35 60 0 0 1 0 0 AADACL4 343066 broad.mit.edu 37 1 12726438 12726438 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr1:12726438C>T ENST00000376221.1 + 4 916 c.916C>T c.(916-918)Cct>Tct p.P306S NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 306 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) GTCTCCCGGCCCTTTTAATGA 0.502000 76 114 0 0 1 0 0 TSPYL6 388951 broad.mit.edu 37 2 54483276 54483276 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr2:54483276C>T ENST00000317802.7 - 1 133 c.13G>A c.(13-15)Gag>Aag p.E5K ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron NM_001003937.2 NP_001003937.2 Q8N831 TSYL6_HUMAN TSPY-like 6 5 nucleosome assembly nucleus NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2) 20 TGAGGACTCTCCGGGAGGCTC 0.592000 51 113 0 0 1 0 0 CBX4 8535 broad.mit.edu 37 17 77808797 77808797 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr17:77808797G>A ENST00000269397.4 - 5 821 c.644C>T c.(643-645)gCc>gTc p.A215V NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 215 Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CGCCGCACCGGCCAGGGGCTT 0.721000 OREG0024799 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 43 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74274831 74274831 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr2:74274831C>T ENST00000409262.3 + 1 1382 c.1382C>T c.(1381-1383)gCc>gTc p.A461V NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 461 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GAGAAAGCTGCCCCTGGGATC 0.592000 16 23 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79029984 79029984 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr5:79029984C>T ENST00000446378.2 + 2 5427 c.5396C>T c.(5395-5397)tCa>tTa p.S1799L NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1799 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CACCCAAATTCATCCCAGGTA 0.393000 66 16 0 0 1 0 0 ZNF16 7564 broad.mit.edu 37 8 146156727 146156727 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr8:146156727G>A ENST00000276816.4 - 4 1632 c.1446C>T c.(1444-1446)atC>atT p.I482I ZNF16_ENST00000394909.2_Silent_p.I482I NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 482 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) CTCCCGTGTGGATGATCTGGT 0.527000 61 87 0 0 1 0 0 CNOT6 57472 broad.mit.edu 37 5 180001197 180001197 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr5:180001197G>A ENST00000393356.1 + 14 2095 c.1671G>A c.(1669-1671)agG>agA p.R557R CNOT6_ENST00000261951.4_Silent_p.R557R Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 557 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) CTGGCAGGAGGTAGTCAAGCA 0.502000 42 13 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169789040 169789040 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr2:169789040C>T ENST00000263817.6 - 24 3184 c.3060G>A c.(3058-3060)gtG>gtA p.V1020V NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 1020 ABC transmembrane type-1 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) CTGCAGAGATCACCCTGTAAC 0.498000 12 22 0 0 1 0 0 CNNM1 26507 broad.mit.edu 37 10 101148006 101148006 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr10:101148006G>A ENST00000356713.4 + 9 2911 c.2622G>A c.(2620-2622)gaG>gaA p.E874E CNNM1_ENST00000370534.4_Silent_p.E530E|CNNM1_ENST00000446890.1_Silent_p.E803E|CNNM1_ENST00000370528.3_Intron NM_020348.2 NP_065081.2 Q9NRU3 CNNM1_HUMAN cyclin M1 874 ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) ACTTCGAGGAGCACAGCACAC 0.617000 6 40 0 0 1 0 0 ZC4H2 55906 broad.mit.edu 37 X 64140100 64140100 + Missense_Mutation SNP G G T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:64140100G>T ENST00000545618.1 - 4 807 c.244C>A c.(244-246)Cta>Ata p.L82I ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000374839.3_Missense_Mutation_p.L87I|ZC4H2_ENST00000337990.2_Missense_Mutation_p.L64I|ZC4H2_ENST00000447788.2_Missense_Mutation_p.L87I Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 87 metal ion binding|protein binding endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 AGCTTGTTTAGGTCATTCTCA 0.463000 81 71 9.35349e-44 9.87073e-44 1 1 0 KLHDC2 23588 broad.mit.edu 37 14 50244647 50244647 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr14:50244647C>T ENST00000298307.5 + 4 1303 c.442C>T c.(442-444)Ctt>Ttt p.L148F KLHDC2_ENST00000557247.1_Missense_Mutation_p.L148F|KLHDC2_ENST00000554589.1_Missense_Mutation_p.L148F|KLHDC2_ENST00000553538.1_3'UTR NM_014315.2 NP_055130.1 Q9Y2U9 KLDC2_HUMAN kelch domain containing 2 148 nucleus protein binding endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(31;0.000959)|Breast(41;0.0117) AAAGGACAAACTTGGTGTCTG 0.403000 42 50 0 0 1 0 0 KRT26 353288 broad.mit.edu 37 17 38925171 38925171 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr17:38925171C>T ENST00000335552.4 - 6 1195 c.1147G>A c.(1147-1149)Gaa>Aaa p.E383K NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 383 Coil 2.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) ATGTCAATTTCTTTTTCTAAA 0.343000 11 7 0 0 1 0 0 HS1BP3 64342 broad.mit.edu 37 2 20838313 20838313 + Missense_Mutation SNP A A C TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr2:20838313A>C ENST00000402541.1 - 4 520 c.506T>G c.(505-507)tTt>tGt p.F169C HS1BP3_ENST00000304031.3_Missense_Mutation_p.F169C Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 169 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) CTCCTCAAAAAAGTCGAAAGC 0.587000 39 43 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17167260 17167260 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr11:17167260G>A ENST00000265970.7 - 7 1658 c.1659C>T c.(1657-1659)ctC>ctT p.L553L PIK3C2A_ENST00000540361.1_Silent_p.L173L|PIK3C2A_ENST00000531428.1_5'UTR NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 553 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) AAGAATCTAAGAGTTCTTCAA 0.343000 50 71 0 0 1 0 0 CYP2J2 1573 broad.mit.edu 37 1 60392370 60392370 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr1:60392370G>A ENST00000371204.3 - 1 92 c.49C>T c.(49-51)Cat>Tat p.H17Y NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, polypeptide 2 17 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1) 26 all_cancers(7;0.000396) GTCCGAGGATGGACCACTGCC 0.662000 17 42 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111090623 111090623 + Missense_Mutation SNP G G T rs3027720 byFrequency TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:111090623G>T ENST00000262839.2 - 6 2337 c.1419C>A c.(1417-1419)caC>caA p.H473Q NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 473 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TCAGAGTCGGGTGCCACATTT 0.453000 18 78 1.01871e-10 1.03682e-10 1 1 0 TTC6 319089 broad.mit.edu 37 14 38295414 38295414 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr14:38295414C>T ENST00000553443.1 + 28 4989 c.4989C>T c.(4987-4989)ttC>ttT p.F1663F TTC6_ENST00000267368.7_Silent_p.F297F|TTC6_ENST00000476979.1_Silent_p.F297F|TTC6_ENST00000382320.3_Silent_p.F377F tetratricopeptide repeat domain 6 central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) AAGGAAAATTCCAGAAAGCTT 0.378000 48 64 0 0 1 0 0 TRBV6-4 28603 broad.mit.edu 37 7 142250982 142250982 + RNA SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr7:142250982C>T ENST00000390360.3 - 0 85 CTGGGTGATCCCAGCAGTCAC 0.527000 42 131 0 0 1 0 0 ELAVL4 1996 broad.mit.edu 37 1 50659567 50659567 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr1:50659567G>A ENST00000371824.1 + 4 742 c.485G>A c.(484-486)cGa>cAa p.R162Q ELAVL4_ENST00000371823.4_Missense_Mutation_p.R162Q|ELAVL4_ENST00000371819.1_Missense_Mutation_p.R167Q|ELAVL4_ENST00000371827.1_Missense_Mutation_p.R162Q|ELAVL4_ENST00000371821.1_Missense_Mutation_p.R167Q|ELAVL4_ENST00000448907.2_Missense_Mutation_p.R165Q|ELAVL4_ENST00000357083.4_Missense_Mutation_p.R179Q P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 162 RRM 2. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 ATCACCTCACGAATCCTGGTT 0.443000 87 109 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41031173 41031173 + Missense_Mutation SNP G G C TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:41031173G>C ENST00000324545.7 + 21 3743 c.3110G>C c.(3109-3111)aGa>aCa p.R1037T USP9X_ENST00000378308.2_Missense_Mutation_p.R1037T NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 1037 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 CCACCCCTTAGAGATGGAGCA 0.368000 8 154 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13669433 13669433 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr3:13669433G>A ENST00000404922.3 + 11 2652 c.2533G>A c.(2533-2535)Gat>Aat p.D845N FBLN2_ENST00000535798.1_Missense_Mutation_p.D824N|FBLN2_ENST00000492059.1_Missense_Mutation_p.D845N|FBLN2_ENST00000295760.7_Missense_Mutation_p.D798N NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 845 EGF-like 5; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GCGCTGCATGGATGGCTTCCT 0.637000 92 36 0 0 1 0 0 LOC401242 401242 broad.mit.edu 37 6 28829509 28829509 + RNA SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr6:28829509C>T ENST00000440244.1 - 0 350 NR_033379.1 CCACCGATTCCCTGCAGGCCA 0.577000 13 19 0 0 1 0 0 RABGAP1 23637 broad.mit.edu 37 9 125827633 125827633 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr9:125827633C>T ENST00000373647.4 + 14 1935 c.1801C>T c.(1801-1803)Ccc>Tcc p.P601S RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_5'UTR NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 601 Rab-GAP TBC. cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 ACAGGAGTCTCCCCAGGACAG 0.408000 66 29 0 0 1 0 0 DYM 54808 broad.mit.edu 37 18 46858364 46858364 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr18:46858364G>A ENST00000269445.6 - 8 1090 c.633C>T c.(631-633)acC>acT p.T211T DYM_ENST00000578396.1_Silent_p.T56T|DYM_ENST00000442713.2_Intron NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 211 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 CAAGTTTGCTGGTGTATGGAA 0.383000 25 45 0 0 1 0 0 CA10 56934 broad.mit.edu 37 17 50149720 50149720 + Nonsense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr17:50149720C>T ENST00000451037.2 - 2 1035 c.95G>A c.(94-96)tGg>tAg p.W32* CA10_ENST00000442502.2_Nonsense_Mutation_p.W32*|CA10_ENST00000340813.6_Nonsense_Mutation_p.W38*|CA10_ENST00000570565.1_5'UTR|CA10_ENST00000285273.4_Nonsense_Mutation_p.W32* NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 32 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) GTATGCCCACCAGCCTTCATG 0.403000 41 71 0 0 1 0 0 MRPL15 29088 broad.mit.edu 37 8 55049988 55049988 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr8:55049988G>A ENST00000260102.4 + 3 498 c.424G>A c.(424-426)Gag>Aag p.E142K NM_014175.3 NP_054894.1 Q9P015 RM15_HUMAN mitochondrial ribosomal protein L15 142 translation large ribosomal subunit|mitochondrion structural constituent of ribosome endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3) 10 Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458) CCAGCTGGTTGAGGAGGTAAG 0.448000 38 64 0 0 1 0 0 SLFN13 146857 broad.mit.edu 37 17 33772553 33772553 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr17:33772553G>A ENST00000285013.6 - 3 422 c.147C>T c.(145-147)gcC>gcT p.A49A SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000542635.1_Silent_p.A49A|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Silent_p.A49A|SLFN13_ENST00000526861.1_Silent_p.A49A NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 49 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AAGCACACGCGGCCCGTATAA 0.483000 16 129 0 0 1 0 0 FKBP1A 2280 broad.mit.edu 37 20 1356213 1356213 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr20:1356213G>A ENST00000400137.4 - 3 283 c.120C>T c.(118-120)tcC>tcT p.S40S SDCBP2-AS1_ENST00000446423.1_RNA|FKBP1A_ENST00000439640.2_Silent_p.S24S|FKBP1A_ENST00000381719.3_Silent_p.S40S|FKBP1A_ENST00000381724.3_Silent_p.S35S|FKBP1A_ENST00000381715.1_Silent_p.S35S NM_000801.4 NP_000792.1 P62942 FKB1A_HUMAN FK506 binding protein 1A, 12kDa 40 PPIase FKBP-type. 'de novo' protein folding|beta-amyloid formation|fibril organization|heart trabecula formation|negative regulation of protein phosphatase type 2B activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein binding|positive regulation of protein ubiquitination|protein maturation by protein folding|protein refolding|regulation of activin receptor signaling pathway|regulation of immune response|regulation of ryanodine-sensitive calcium-release channel activity|SMAD protein complex assembly|T cell activation|ventricular cardiac muscle tissue morphogenesis axon|cytosol|sarcoplasmic reticulum membrane|terminal cisterna activin binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity|signal transducer activity|SMAD binding|type I transforming growth factor beta receptor binding central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1) 3 Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864) TTCTGTCCCGGGAGGAATCAA 0.468000 21 3 0 0 1 0 0 CYP2J2 1573 broad.mit.edu 37 1 60392371 60392371 + Silent SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr1:60392371G>A ENST00000371204.3 - 1 91 c.48C>T c.(46-48)gtC>gtT p.V16V NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, polypeptide 2 16 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1) 26 all_cancers(7;0.000396) TCCGAGGATGGACCACTGCCC 0.662000 17 42 0 0 1 0 0 JADE3 9767 broad.mit.edu 37 X 46918403 46918403 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:46918403C>T ENST00000218343.4 + 11 2694 c.2396C>T c.(2395-2397)cCt>cTt p.P799L PHF16_ENST00000397189.1_Missense_Mutation_p.P799L NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 799 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 AGGGAAAATCCTCCCCATGAC 0.458000 19 51 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4869653 4869653 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr11:4869653C>T ENST00000322101.2 - 1 861 c.786G>A c.(784-786)atG>atA p.M262I MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CCAGGAGGATCATAGGGATAT 0.502000 47 94 0 0 1 0 0 MPZL3 196264 broad.mit.edu 37 11 118104192 118104192 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr11:118104192G>A ENST00000278949.4 - 5 719 c.664C>T c.(664-666)Cgt>Tgt p.R222C MPZL3_ENST00000527472.1_Missense_Mutation_p.R210C|MPZL3_ENST00000525386.1_Silent_p.S40S Q6UWV2 MPZL3_HUMAN myelin protein zero-like 3 222 cell adhesion integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.046) Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TCAGCGCAACGGACACAAAGC 0.488000 28 7 0 0 1 0 0 KCNJ14 3770 broad.mit.edu 37 19 48967516 48967516 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr19:48967516C>T ENST00000391884.1 + 2 1269 c.793C>T c.(793-795)Cgt>Tgt p.R265C KCNJ14_ENST00000342291.2_Missense_Mutation_p.R265C Q9UNX9 IRK14_HUMAN potassium inwardly-rectifying channel, subfamily J, member 14 265 voltage-gated potassium channel complex inward rectifier potassium channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222) AGGCACCGATCGTATCTTCCT 0.607000 15 35 0 0 1 0 0 ZNF775 285971 broad.mit.edu 37 7 150094385 150094385 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr7:150094385C>T ENST00000329630.5 + 3 923 c.816C>T c.(814-816)ccC>ccT p.P272P NM_173680.3 NP_775951.2 Q96BV0 ZN775_HUMAN zinc finger protein 775 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1) 11 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.0173) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) tctccggccccgaggggccgg 0.756000 16 13 0 0 1 0 0 FSHR 2492 broad.mit.edu 37 2 49381424 49381424 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr2:49381424G>A ENST00000406846.2 - 1 252 c.133C>T c.(133-135)Ccg>Tcg p.P45S FSHR_ENST00000346173.3_Missense_Mutation_p.P45S|FSHR_ENST00000304421.4_Missense_Mutation_p.P45S NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 45 LRRNT. female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GCATTCCTCGGGAGGTCAGAA 0.478000 Gonadal Dysgenesis, 46 XX 26 37 0 0 1 0 0 ARPC2 10109 broad.mit.edu 37 2 219093493 219093493 + Missense_Mutation SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr2:219093493C>T ENST00000295685.10 + 3 403 c.142C>T c.(142-144)Cct>Tct p.P48S ARPC2_ENST00000315717.5_Missense_Mutation_p.P48S NM_005731.2 NP_005722.1 O15144 ARPC2_HUMAN actin related protein 2/3 complex, subunit 2, 34kDa 48 cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 6 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) TATTTCAAATCCTAATGGAGA 0.393000 33 52 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72992790 72992790 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr16:72992790G>A ENST00000268489.5 - 2 1927 c.1255C>T c.(1255-1257)Ccc>Tcc p.P419S ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 419 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GGCCCCAGGGGGACTGAGGTA 0.632000 95 170 0 0 1 0 0 SLC41A1 254428 broad.mit.edu 37 1 205779437 205779437 + Missense_Mutation SNP C C A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr1:205779437C>A ENST00000367137.3 - 2 1147 c.133G>T c.(133-135)Gct>Tct p.A45S NM_173854.4 NP_776253.3 Q8IVJ1 S41A1_HUMAN solute carrier family 41 (magnesium transporter), member 1 45 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 17 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) TCTACCCCAGCCCCATCAGGC 0.637000 OREG0014163 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 88 2.12542e-12 2.17286e-12 1 1 0 PPP6R2 9701 broad.mit.edu 37 22 50882654 50882654 + Missense_Mutation SNP C C A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr22:50882654C>A ENST00000359139.3 + 23 3170 c.2776C>A c.(2776-2778)Ctg>Atg p.L926M PPP6R2_ENST00000216061.5_Missense_Mutation_p.A960D|PPP6R2_ENST00000395741.3_Missense_Mutation_p.A927D|PPP6R2_ENST00000395744.3_Missense_Mutation_p.A926D NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 0 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CCAGAAGGAGCTGCCTTAAAT 0.627000 43 97 1.21353e-23 1.2518e-23 1 1 0 MS4A1 931 broad.mit.edu 37 11 60230489 60230489 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr11:60230489G>A ENST00000534668.1 + 3 463 c.174G>A c.(172-174)atG>atA p.M58I MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000389939.2_Missense_Mutation_p.M58I|MS4A1_ENST00000532073.1_Missense_Mutation_p.M58I|MS4A1_ENST00000345732.4_Missense_Mutation_p.M58I|MS4A1_ENST00000534503.1_3'UTR NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 58 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) TCCAGATTATGAATGGGCTCT 0.547000 75 23 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51918155 51918155 + Missense_Mutation SNP A A G TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr19:51918155A>G ENST00000356298.5 - 8 1654 c.1538T>C c.(1537-1539)cTc>cCc p.L513P SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.L455P|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000353836.5_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.L513P NM_033130.4 NP_149121.2 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 513 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GCCGGAGCTGAGCCCTCCATG 0.682000 34 109 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43885575 43885575 + Silent SNP C C T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr1:43885575C>T ENST00000562955.1 + 8 1050 c.1050C>T c.(1048-1050)ttC>ttT p.F350F NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 350 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TCTATTCCTTCCTGCGCAGTG 0.552000 84 142 0 0 1 0 0 DDX53 168400 broad.mit.edu 37 X 23018527 23018527 + Missense_Mutation SNP G G A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:23018527G>A ENST00000327968.5 + 1 441 c.353G>A c.(352-354)aGc>aAc p.S118N RP11-40F8.2_ENST00000455399.1_RNA NM_182699.3 NP_874358.2 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 118 nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 AAACAAGAAAGCTACAACTCA 0.403000 90 74 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48956355 48956356 + Frame_Shift_Del DEL TG TG - TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr2:48956355_48956356delTG ENST00000294954.7 - 3 265_266 c.244_245delCA c.(244-246)gfs p.Q82fs LHCGR_ENST00000405626.1_Frame_Shift_Del_p.Q82fs|LHCGR_ENST00000403273.1_Frame_Shift_Del_p.Q82fs|LHCGR_ENST00000401907.1_Frame_Shift_Del_p.Q82fs|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Frame_Shift_Del_p.Q82fs NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 82 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) GGAATCAATCTGAGAGATTTCA 0.416 15 172 --- --- --- --- GBA3 57733 broad.mit.edu 37 4 22729654 22729655 + RNA INS - - T TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr4:22729654_22729655insT ENST00000508166.1 + 0 160 GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA NM_020973.4 NP_066024.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GTTCCCCTGAGTTTTTTTTTCT 0.342 2 4 --- --- --- --- TRBV7-8 28590 broad.mit.edu 37 7 142099805 142099806 + RNA DEL AC AC - TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr7:142099805_142099806delAC ENST00000390359.3 - 0 88 TAGTCATcatacacacacacac 0.441 9 128 --- --- --- --- SNORA26 677810 broad.mit.edu 37 9 89875500 89875500 + RNA DEL A A - rs142686931 TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr9:89875500delA ENST00000391119.1 + 0 136 GAGCCACAGCaaaaaaaaaaa 0.363 2 4 --- --- --- --- RBBP8 5932 broad.mit.edu 37 18 20572852 20572853 + Frame_Shift_Ins INS - - A TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr18:20572852_20572853insA ENST00000399722.2 + 11 1413_1414 c.1062_1063insA c.(1060-1065)ggaaaafs p.GK354fs RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.GK354fs NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 354 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity p.K357fs*3(2)|p.K355E(2)|p.G354G(2) central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TACAGCCTGGGAAAAAAAAACA 0.361 Homologous recombination 8 119 --- --- --- --- BCL3 602 broad.mit.edu 37 19 45262726 45262726 + Frame_Shift_Del DEL C C - TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr19:45262726delC ENST00000164227.5 + 9 1463 c.1219delC c.(1219-1221)ccfs p.P408fs NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 408 Pro/Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) CTCCCAGTCTCCCCCCAGGGA 0.627 T IGH@ CLL 7 873 --- --- --- --- BIK 638 broad.mit.edu 37 22 43525245 43525247 + In_Frame_Del DEL GCT GCT - TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chr22:43525245_43525247delGCT ENST00000216115.2 + 5 480_482 c.417_419delGCT c.(415-420)gcg>gc p.AL139del NM_001197.4 NP_001188.1 Q13323 BIK_HUMAN BCL2-interacting killer (apoptosis-inducing) 139 Leucine-zipper (Potential). apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) tgctgctggcgctgctgctgctg 0.724 8 277 --- --- --- --- GUCY2F 2986 broad.mit.edu 37 X 108619355 108619355 + Frame_Shift_Del DEL T T - TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:108619355delT ENST00000218006.2 - 18 3483 c.3192delA c.(3190-3192)aafs p.K1064fs NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 1064 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 TCATGAAGCCTTTTTTCCCAA 0.418 7 320 --- --- --- --- SRRM1P3 100130190 broad.mit.edu 37 X 136066760 136066767 + RNA DEL TTTGGTGG TTTGGTGG - TCGA-BF-A5EP-01A-12D-A27K-08 TCGA-BF-A5EP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d5da1ae-377a-4592-9f0b-75473ee097e0 e56b0147-3c79-4ced-abba-56aa27022d30 g.chrX:136066760_136066767delTTTGGTGG ENST00000424306.1 + 0 2052 GGGAGGCTTCTTTGGTGGTGACCGGGAA 0.490 11 49 --- --- --- ---