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 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 4 76 0 0 1 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30087508 30087508 + Missense_Mutation SNP A A G TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr7:30087508A>G ENST00000449726.1 + 4 724 c.374A>G c.(373-375)gAc>gGc p.D125G PLEKHA8_ENST00000396257.2_Missense_Mutation_p.D125G|PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.D125G|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.D125G NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 125 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 CTCTACTGTGACCTCCTTGTT 0.313000 5 82 0 0 1 0 0 C1orf162 128346 broad.mit.edu 37 1 112020367 112020367 + Silent SNP C C G TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr1:112020367C>G ENST00000343534.5 + 5 547 c.297C>G c.(295-297)gcC>gcG p.A99A C1orf162_ENST00000464591.1_Intron|C1orf162_ENST00000369718.3_Silent_p.A74A NM_174896.2 NP_777556.1 Q8NEQ5 CA162_HUMAN chromosome 1 open reading frame 162 99 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 5 all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134) AGCCCCAGGCCCCAGATCCTC 0.552000 56 117 0 0 1 0 0 FAM86FP 0 broad.mit.edu 37 12 8386955 8386955 + RNA SNP T T C rs75997195 TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr12:8386955T>C ENST00000427893.2 - 0 811 CTTGTGCTCCTGGCAGGCAGC 0.612000 7 194 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 85 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10466010 10466010 + Missense_Mutation SNP C C A TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr8:10466010C>A ENST00000382483.3 - 4 5821 c.5598G>T c.(5596-5598)gaG>gaT p.E1866D NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1866 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTGGCTGGGCCTCCCCTTCAG 0.627000 61 261 3.30712e-30 3.69295e-30 1 1 0 GBA2 57704 broad.mit.edu 37 9 35748347 35748347 + Missense_Mutation SNP A A C TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr9:35748347A>C ENST00000378094.4 - 1 868 c.355T>G c.(355-357)Ttg>Gtg p.L119V GBA2_ENST00000378103.3_Missense_Mutation_p.L119V|GBA2_ENST00000545786.1_Missense_Mutation_p.L119V Q9HCG7 GBA2_HUMAN glucosidase, beta (bile acid) 2 119 bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum beta-glucosidase activity|glucosylceramidase activity NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3) 21 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ACTCACCTCAAGCCCATGCCT 0.483000 44 62 0 0 1 0 0 YBX2 51087 broad.mit.edu 37 17 7193617 7193617 + Missense_Mutation SNP G G A TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr17:7193617G>A ENST00000007699.5 - 5 760 c.697C>T c.(697-699)Cgg>Tgg p.R233W NM_015982.3 NP_057066.2 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 233 Pro-rich.|Required for mRNA-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 CGCACAAACCGCCGTCGGTAG 0.652000 174 216 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 46 52 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30695427 30695427 + Silent SNP G G A TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr8:30695427G>A ENST00000256246.2 - 3 7298 c.7224C>T c.(7222-7224)tgC>tgT p.C2408C NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2408 p.C2408*(1) NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ACTTTGATGCGCAAGTGTCTT 0.368000 14 314 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 6 41 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846098 18846098 + RNA SNP G G A rs9306211 TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr22:18846098G>A ENST00000412938.1 + 0 3456 ATGCCTCGGCGCTCGATCTCC 0.622000 6 50 0 0 1 0 0 ZNF706 51123 broad.mit.edu 37 8 102213962 102213962 + Missense_Mutation SNP C C G TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr8:102213962C>G ENST00000520347.1 - 2 2964 c.8G>C c.(7-9)cGt>cCt p.R3P ZNF706_ENST00000311212.4_Missense_Mutation_p.R3P|ZNF706_ENST00000519882.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519744.1_Missense_Mutation_p.R3P|ZNF706_ENST00000518336.1_Missense_Mutation_p.R3P|ZNF706_ENST00000517844.1_Missense_Mutation_p.R3P|ZNF706_ENST00000521272.1_Missense_Mutation_p.R3P|ZNF706_ENST00000520984.1_Missense_Mutation_p.R3P Q9Y5V0 ZN706_HUMAN zinc finger protein 706 3 intracellular zinc ion binding p.R3P(2) large_intestine(1)|ovary(2) 3 all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117) Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05) CTGCTGTCCACGAGCCATATC 0.398000 7 33 0 0 1 0 0 S100PBP 64766 broad.mit.edu 37 1 33292091 33292091 + Nonsense_Mutation SNP A A T TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr1:33292091A>T ENST00000373475.5 + 3 645 c.391A>T c.(391-393)Aaa>Taa p.K131* S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Nonsense_Mutation_p.K131*|S100PBP_ENST00000398243.3_Nonsense_Mutation_p.K131* NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein 131 nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) AGCTCATACTAAACCATTAAA 0.413000 34 54 0 0 1 0 0 PPP1R9B 84687 broad.mit.edu 37 17 48221042 48221042 + Missense_Mutation SNP C C T TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr17:48221042C>T ENST00000316878.6 - 5 1542 c.1540G>A c.(1540-1542)Ggg>Agg p.G514R AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR NM_032595.3 NP_115984.3 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B 514 Interacts with RGS2 (By similarity).|PDZ. cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 ATGTCTGCCCCGGCGCCCATG 0.627000 58 91 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7303197 7303197 + Missense_Mutation SNP G G A TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr12:7303197G>A ENST00000537408.1 + 14 2877 c.2339G>A c.(2338-2340)cGa>cAa p.R780Q CLSTN3_ENST00000266546.6_Missense_Mutation_p.R768Q Q9BQT9 CSTN3_HUMAN calsyntenin 3 768 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 TATCGGCTGCGACACGGAGCT 0.572000 24 49 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 85 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 5 24 5.9392e-07 6.12194e-07 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr16:90161578G>A ENST00000567960.1 + 0 314 TUBB8P7_ENST00000564451.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 10 62 0 0 1 0 0 SNTA1 6640 broad.mit.edu 37 20 31996657 31996657 + Silent SNP C C T TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr20:31996657C>T ENST00000217381.2 - 7 1546 c.1275G>A c.(1273-1275)gtG>gtA p.V425V NM_003098.2 NP_003089.1 Q13424 SNTA1_HUMAN syntrophin, alpha 1 425 muscle contraction cell junction|cytoplasm|cytoskeleton|sarcolemma actin binding|calmodulin binding breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1) 13 TGTCGATGTGCACAGACAGGC 0.617000 10 137 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 77 0 0 1 0 0 RPL32P3 0 broad.mit.edu 37 3 129116292 129116292 + RNA SNP A A C TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr3:129116292A>C ENST00000514355.1 - 0 412 lung(1) 1 AGCAAATCCCACCCTGCCAGT 0.512000 16 88 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34261476 34261476 + Missense_Mutation SNP G G A TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr18:34261476G>A ENST00000257209.4 + 12 1510 c.1388G>A c.(1387-1389)cGg>cAg p.R463Q FHOD3_ENST00000359247.4_Missense_Mutation_p.R463Q|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Missense_Mutation_p.R638Q|FHOD3_ENST00000445677.1_Missense_Mutation_p.R425Q NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 463 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) GAGAGGCGGCGGCAGGAGAGA 0.433000 37 67 0 0 1 0 0 SIMC1 375484 broad.mit.edu 37 5 175763804 175763804 + Silent SNP A A C TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr5:175763804A>C ENST00000443967.1 + 10 2603 c.2196A>C c.(2194-2196)acA>acC p.T732T SIMC1_ENST00000430704.2_Silent_p.T317T|SIMC1_ENST00000332772.4_Silent_p.T193T|SIMC1_ENST00000341199.6_Silent_p.T317T SUMO-interacting motifs containing 1 GCTGTGAGACACCCACCCGCC 0.478000 9 95 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 85 0 0 1 0 0 FOXD2 2306 broad.mit.edu 37 1 47904295 47904295 + Missense_Mutation SNP A A G TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr1:47904295A>G ENST00000334793.5 + 1 2607 c.488A>G c.(487-489)tAc>tGc p.Y163C NM_004474.3 NP_004465.3 O60548 FOXD2_HUMAN forkhead box D2 163 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter 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 lung(4) 4 READ - Rectum adenocarcinoma(2;0.0908) CGCTTCCCCTACTACCGGGAG 0.622000 71 90 0 0 1 0 0 NSUN5P1 0 broad.mit.edu 37 7 75044431 75044431 + RNA SNP C C T rs236650 by1000genomes TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr7:75044431C>T ENST00000393633.2 + 0 3599 large_intestine(1)|lung(1) 2 GCTGGACCCCCGCCAGGCTCC 0.632000 4 54 0 0 1 0 0 BTD 686 broad.mit.edu 37 3 15686446 15686446 + Silent SNP T T C TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr3:15686446T>C ENST00000383778.4 + 4 1381 c.1023T>C c.(1021-1023)ttT>ttC p.F341F BTD_ENST00000449107.1_Silent_p.F363F|BTD_ENST00000437172.1_Silent_p.F363F|BTD_ENST00000303498.5_Silent_p.F361F P43251 BTD_HUMAN biotinidase 361 CN hydrolase. central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 18 ATAGTAAGTTTTTAAAAATTT 0.473000 89 104 0 0 1 0 0 SOGA1 140710 broad.mit.edu 37 20 35444296 35444296 + Nonsense_Mutation SNP G G A TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr20:35444296G>A ENST00000237536.4 - 5 1890 c.1549C>T c.(1549-1551)Cag>Tag p.Q517* SOGA1_ENST00000456801.2_Nonsense_Mutation_p.Q120*|SOGA1_ENST00000279034.5_Nonsense_Mutation_p.Q279*|SOGA1_ENST00000357779.3_Nonsense_Mutation_p.Q279* NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 279 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 TCGACAAACTGCAGGTGTCGC 0.667000 8 15 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 11 32 0 0 1 0 0 RD3 343035 broad.mit.edu 37 1 211654749 211654749 + Silent SNP G G A TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr1:211654749G>A ENST00000367002.4 - 2 1172 c.9C>T c.(7-9)ctC>ctT p.L3L RD3_ENST00000484910.1_Intron NM_001164688.1|NM_183059.2 NP_001158160.1|NP_898882.1 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 3 response to stimulus|visual perception central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) GCCATGAGATGAGAGACATAG 0.607000 6 75 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 85 0 0 1 0 0 PLEKHM1P 0 broad.mit.edu 37 17 62818136 62818136 + RNA SNP G G C TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr17:62818136G>C ENST00000582986.1 - 0 362 NR_024386.1 CTGAAGAATGGGAAATGGAAT 0.572000 9 85 0 0 1 0 0 SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 8 34 --- --- --- --- ABL2 27 broad.mit.edu 37 1 179077737 179077738 + Frame_Shift_Ins INS - - G TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr1:179077737_179077738insG ENST00000502732.1 - 12 2867_2868 c.2664_2665insC c.(2662-2667)ccagggfs p.G889fs ABL2_ENST00000367623.4_Frame_Shift_Ins_p.G868fs|ABL2_ENST00000408940.3_Frame_Shift_Ins_p.G853fs|ABL2_ENST00000507173.1_Frame_Shift_Ins_p.G765fs|ABL2_ENST00000344730.3_Frame_Shift_Ins_p.G771fs|ABL2_ENST00000511413.1_Frame_Shift_Ins_p.G786fs|ABL2_ENST00000504405.1_Frame_Shift_Ins_p.G750fs|ABL2_ENST00000512653.1_Frame_Shift_Ins_p.G874fs NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 889 F-actin-binding (By similarity).|Pro-rich. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TCTTTACCCTTGGGGGCAGCTG 0.619 T ETV6 AML 11 112 --- --- --- --- TRBV6-5 0 broad.mit.edu 37 7 142180819 142180821 + RNA DEL AGG AGG - TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr7:142180819_142180821delAGG ENST00000390368.2 - 0 115 CCTGCAGAGAAGGAGAACAAAGC 0.557 12 188 --- --- --- --- ODF1 4956 broad.mit.edu 37 8 103572989 103573015 + In_Frame_Del DEL CCCCTGCAGCCCCTGCAGCCCCTGCAA CCCCTGCAGCCCCTGCAGCCCCTGCAA - rs3018444 byFrequency TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr8:103572989_103573015delCCCCTGCAGCCCCTGCAGCCCCTGCAA ENST00000285402.3 + 2 786_812 c.630_656delCCCCTGCAGCCCCTGCAGCCCCTGCAA c.(628-657)agc>ag p.SPCSPCSPCN210del ODF1_ENST00000518835.1_Splice_Site_p.SPCSPCSPCN3_splice NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 210 C-X-P repeat region. cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity p.C218_P226delCNPCSPCNP(1)|p.P217P(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) CTCCTtgcagcccctgcagcccctgcagcccctgcaacccctgcagc 0.555 14 130 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396278 118396279 + RNA INS - - T rs11197776 by1000genomes TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr10:118396278_118396279insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) ACAAATTATGGTTTTTTTTTTC 0.426 4 7 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651199 1651200 + In_Frame_Ins INS - - GGCTGTGGCTCC rs71025763 TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr11:1651199_1651200insGGCTGTGGCTCC ENST00000399676.2 + 1 167_168 c.129_130insGGCTGTGGCTCC c.(127-132)gggctg>ggGGCTGTGGCTCCgctg p.43_44GL>GAVAPL NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 43 G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ccggctgtggaggctgtggggg 0.713 38 26 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 15 5 --- --- --- --- OR4N2 390429 broad.mit.edu 37 14 20296055 20296056 + Frame_Shift_Ins INS - - T rs149523724 by1000genomes TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr14:20296055_20296056insT ENST00000568211.1 + 1 448_449 c.448_449insT c.(448-450)tggfs p.W150fs OR4N2_ENST00000315947.1_Frame_Shift_Ins_p.W150fs Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGCTCTGTGGCTTGGGGGTTTT 0.530 85 502 --- --- --- --- OR4N4 283694 broad.mit.edu 37 15 22382920 22382921 + Frame_Shift_Ins INS - - T TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr15:22382920_22382921insT ENST00000328795.4 + 1 539_540 c.448_449insT c.(448-450)tggfs p.W150fs RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GGCTCTGTGGCTTGGGGGTTTT 0.535 28 207 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 7 45 --- --- --- --- PLCG2 5336 broad.mit.edu 37 16 81944307 81944308 + Frame_Shift_Ins INS - - C TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr16:81944307_81944308insC ENST00000359376.3 + 18 2130_2131 c.1916_1917insC c.(1915-1917)accfs p.T639fs NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 639 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 CCCAACCCCAACCCCCACGAGT 0.653 7 377 --- --- --- --- C17orf97 400566 broad.mit.edu 37 17 263586 263645 + In_Frame_Del DEL GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC - rs71369083 byFrequency TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr17:263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC ENST00000360127.6 + 2 968_1027 c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC c.(952-1011)del p.DPEALKGFHPDPKALKGFHP318del C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 348 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. p.G334G(4)|p.P327P(1) breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 TTTCCACACTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGG 0.681 21 102 --- --- --- --- PFAS 5198 broad.mit.edu 37 17 8167575 8167576 + Frame_Shift_Ins INS - - A TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr17:8167575_8167576insA ENST00000314666.6 + 16 1970_1971 c.1837_1838insA c.(1837-1839)gggfs p.G613fs PFAS_ENST00000545834.1_Frame_Shift_Ins_p.G189fs|PFAS_ENST00000585319.1_3'UTR NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 613 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AAGAAATGGCCAGGGGGATGCC 0.604 7 119 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 15 186 --- --- --- --- KRTAP10-6 386674 broad.mit.edu 37 21 46012219 46012220 + In_Frame_Ins INS - - GGGGCGCAGCAGCTG rs71199613 TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr21:46012219_46012220insGGGGCGCAGCAGCTG ENST00000400368.1 - 1 166_167 c.146_147insCAGCTGCTGCGCCCC c.(145-147)cgc>cCAGCTGCTGCGCCCCgc p.48_49insPAAAP TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 48 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GGCAGGGGGCCGGGGCGCAGCA 0.688 8 112 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr22:30742328_30742330delCTG ENST00000215793.7 - 3 518_520 c.364_366delCAG c.(364-366)del p.Q122del SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 122 Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 7 205 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994638 140994640 + In_Frame_Del DEL GCT GCT - rs144357389 byFrequency TCGA-J8-A3O2-06A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4cb019d-5154-46eb-b469-6f029d16b140 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chrX:140994638_140994640delGCT ENST00000285879.4 + 4 1734_1736 c.1448_1450delGCT c.(1447-1452)acc>a p.SS487del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 487 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) ATTCCTGTGAGCTCCTCCTCCTC 0.473 HNSCC(15;0.026) 7 281 --- --- --- ---