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 CCDC178 374864 broad.mit.edu 37 18 30913136 30913136 + Splice_Site SNP A A T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr18:30913136A>T ENST00000383096.3 - 10 1062 c.e10+1 CCDC178_ENST00000579947.1_Splice_Site|CCDC178_ENST00000300227.8_Splice_Site|CCDC178_ENST00000583930.1_Splice_Site|CCDC178_ENST00000406524.2_Splice_Site|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Splice_Site|CCDC178_ENST00000403303.1_Splice_Site coiled-coil domain containing 178 TCGTTTATTTACCTCCATTTT 0.308000 7 27 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100334606 100334606 + RNA SNP G G A TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr7:100334606G>A ENST00000542585.1 + 0 576 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GAAGAGGGCCGCCGCCCCGAT 0.657000 4 16 0 0 1 0 0 PAEP 5047 broad.mit.edu 37 9 138457640 138457640 + Missense_Mutation SNP G G A rs143616209 byFrequency TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr9:138457640G>A ENST00000479141.1 + 6 580 c.536G>A c.(535-537)cGt>cAt p.R179H PAEP_ENST00000277508.5_Missense_Mutation_p.R179H|PAEP_ENST00000371766.2_Missense_Mutation_p.R179H NM_002571.2 NP_002562.2 P09466 PAEP_HUMAN progestagen-associated endometrial protein 179 multicellular organismal development extracellular region binding|transporter activity cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1) 6 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) GAGCCGTGCCGTTTCTAGGTG 0.617000 5 256 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104140384 104140384 + Missense_Mutation SNP G G A TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr10:104140384G>A ENST00000369983.3 + 38 5371 c.5111G>A c.(5110-5112)cGc>cAc p.R1704H 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 1704 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 p.R1704H(1) 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) ACCTGGGAACGCATTGACTGT 0.557000 5 329 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33589732 33589732 + Missense_Mutation SNP C C T rs140561197 by1000genomes TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr11:33589732C>T ENST00000321505.4 + 8 3478 c.3298C>T c.(3298-3300)Cgg>Tgg p.R1100W KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1106W|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.R1106W KIAA1549-like p.R1100R(1)|p.R1106R(1) ACAAGGCCGGCGGTTTAAACG 0.582000 12 13 0 0 1 0 0 SLC34A1 6569 broad.mit.edu 37 5 176814873 176814873 + Splice_Site SNP C C T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr5:176814873C>T ENST00000324417.5 + 6 734 c.644_splice c.e6+1 p.R215_splice SLC34A1_ENST00000512593.1_Splice_Site_p.R215_splice NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 215 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGACTTCCGGCGGTGAGGGGG 0.667000 14 22 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126319977 126319977 + Silent SNP A A T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr4:126319977A>T ENST00000394329.3 + 2 5227 c.5214A>T c.(5212-5214)ccA>ccT p.P1738P FAT4_ENST00000335110.5_Silent_p.P36P NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1738 Cadherin 16. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ACAATCCACCAGTATTTCCAA 0.428000 50 79 0 0 1 0 0 FAHD2B 151313 broad.mit.edu 37 2 97757244 97757244 + Missense_Mutation SNP G G A TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr2:97757244G>A ENST00000414820.1 - 3 470 c.200C>T c.(199-201)aCg>aTg p.T67M FAHD2B_ENST00000468548.1_Intron|FAHD2B_ENST00000440566.2_Missense_Mutation_p.T67M|FAHD2B_ENST00000272610.3_Missense_Mutation_p.T67M Q6P2I3 FAH2B_HUMAN fumarylacetoacetate hydrolase domain containing 2B 67 hydrolase activity|metal ion binding kidney(5)|large_intestine(2)|lung(3)|skin(2) 12 TAGGAACTGCGTCATCGTCTT 0.607000 15 25 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44674562 44674562 + Missense_Mutation SNP C C T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr20:44674562C>T ENST00000454036.1 + 13 1760 c.1684C>T c.(1684-1686)Ctc>Ttc p.L562F SLC12A5_ENST00000539566.1_Silent_p.C185C|SLC12A5_ENST00000243964.3_Missense_Mutation_p.L539F NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 562 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTGGGCCCTGCTCCTGACTGC 0.587000 5 81 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 8143703 8143703 + Missense_Mutation SNP A A C TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr18:8143703A>C ENST00000332175.8 + 14 3263 c.2226A>C c.(2224-2226)aaA>aaC p.K742N PTPRM_ENST00000400053.4_Missense_Mutation_p.K680N|PTPRM_ENST00000400060.4_Missense_Mutation_p.K742N|PTPRM_ENST00000580170.1_Missense_Mutation_p.K742N|PTPRM_ENST00000444013.1_Missense_Mutation_p.K529N NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 742 homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) ATACAGTTAAAATTGCTGGAG 0.448000 51 54 0 0 1 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113143999 113143999 + Missense_Mutation SNP C C T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr13:113143999C>T ENST00000261965.3 - 21 2647 c.2461G>A c.(2461-2463)Gtg>Atg p.V821M NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 821 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) GCTGCCGTCACTCCCCACTGG 0.418000 24 7 0 0 1 0 0 SMCR8 140775 broad.mit.edu 37 17 18220605 18220605 + Missense_Mutation SNP T T G TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr17:18220605T>G ENST00000406438.3 + 1 1982 c.1502T>G c.(1501-1503)gTg>gGg p.V501G NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 501 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 AGCCCCCAGGTGGTCCGGAGC 0.532000 65 58 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274415 39274415 + Silent SNP C C T rs425487 by1000genomes TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr17:39274415C>T ENST00000391413.2 - 1 191 c.153G>A c.(151-153)agG>agA p.R51R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51R(6) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGCCTGCAGCAGC 0.667000 4 34 0 0 1 0 0 PDGFD 80310 broad.mit.edu 37 11 104034574 104034574 + Missense_Mutation SNP C C T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr11:104034574C>T ENST00000302251.5 - 1 533 c.82G>A c.(82-84)Gca>Aca p.A28T PDGFD_ENST00000393158.2_Missense_Mutation_p.A28T NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 28 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) TTGATGGATGCGCTCTGCGGG 0.448000 OREG0021315 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 49 0 0 1 0 0 LILRB5 0 broad.mit.edu 37 19 54754889 54754889 + Silent SNP T T C TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr19:54754889T>C ENST00000450632.1 - 13 1823 c.1746A>G c.(1744-1746)agA>agG p.R582R LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 388 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGTCCATCTGTCTGTCCTCTT 0.597000 5 21 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49427537 49427537 + Missense_Mutation SNP G G T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr12:49427537G>T ENST00000301067.7 - 39 10950 c.10951C>A c.(10951-10953)Caa>Aaa p.Q3651K NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCTCCGGCTTGCCCACCCGGA 0.662000 3 23 0.150653 0.150653 1 1 0 UNC119 9094 broad.mit.edu 37 17 26874688 26874688 + Missense_Mutation SNP C C A rs148433825 TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr17:26874688C>A ENST00000470125.1 - 3 1090 c.332G>T c.(331-333)cGg>cTg p.R111L UNC119_ENST00000335765.4_Intron|UNC119_ENST00000301032.4_Missense_Mutation_p.R206L|UNC119_ENST00000484980.1_Intron Q13432 U119A_HUMAN unc-119 homolog (C. elegans) 0 phototransduction|synaptic transmission|visual perception cytosol|soluble fraction p.?(1)|p.R206L(1) breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 7 Lung NSC(42;0.00431) AGACCCTGCCCGCGCACTCAG 0.602000 29 8 2.87052e-16 3.48127e-16 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158606500 158606500 + Silent SNP C C A TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr1:158606500C>A ENST00000368148.3 - 37 5421 c.5241G>T c.(5239-5241)ggG>ggT p.G1747G SPTA1_ENST00000368147.3_Silent_p.G1747G NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1747 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) AGTTCTGAACCCCCTGAAGAT 0.463000 24 118 3.08376e-08 3.58723e-08 1 1 0 PPP1R15A 23645 broad.mit.edu 37 19 49376722 49376722 + Missense_Mutation SNP C C T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr19:49376722C>T ENST00000200453.5 + 2 501 c.232C>T c.(232-234)Cgc>Tgc p.R78C NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 78 Required for localization in the endoplasmic reticulum. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) TTGGGGCAGACGCCCTGAAGA 0.582000 21 36 0 0 1 0 0 MFF 56947 broad.mit.edu 37 2 228197187 228197187 + Missense_Mutation SNP G G T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr2:228197187G>T ENST00000353339.3 + 5 753 c.312G>T c.(310-312)caG>caT p.Q104H MFF_ENST00000304593.9_Missense_Mutation_p.Q78H|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000354503.6_Missense_Mutation_p.Q78H|MFF_ENST00000409616.1_Missense_Mutation_p.Q78H|MFF_ENST00000337110.7_Missense_Mutation_p.Q78H|MFF_ENST00000409565.1_Missense_Mutation_p.Q78H|MFF_ENST00000392059.1_Missense_Mutation_p.Q104H|MFF_ENST00000349901.7_Missense_Mutation_p.Q78H|MFF_ENST00000476924.1_3'UTR NM_001277061.1 NP_001263990.1 Q9GZY8 MFF_HUMAN mitochondrial fission factor 104 integral to membrane|mitochondrial outer membrane breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2) 21 ACCTTATTCAGTCAACTCCCT 0.403000 6 223 1.6384e-10 1.9456e-10 1 1 0 ACACB 32 broad.mit.edu 37 12 109703025 109703025 + Silent SNP T T C TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr12:109703025T>C ENST00000338432.7 + 51 7172 c.7053T>C c.(7051-7053)agT>agC p.S2351S ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377848.3_Silent_p.S2351S|ACACB_ENST00000377854.5_Silent_p.S2281S O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 2351 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GGGAGCTGAGTCACGTGCATA 0.652000 10 74 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124383256 124383256 + Missense_Mutation SNP C C G TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr12:124383256C>G ENST00000409039.3 + 55 9206 c.9181C>G c.(9181-9183)Ctg>Gtg p.L3061V NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3061 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CACCATCCAGCTGGACGAGCT 0.622000 6 3 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8197878 8197878 + Missense_Mutation SNP G G C TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr19:8197878G>C ENST00000600128.1 - 14 2118 c.1704C>G c.(1702-1704)caC>caG p.H568Q FBN3_ENST00000270509.2_Missense_Mutation_p.H568Q|FBN3_ENST00000601739.1_Missense_Mutation_p.H568Q Q75N90 FBN3_HUMAN fibrillin 3 568 EGF-like 6; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCATGCAGTAGTGGCCGCCAG 0.662000 3 3 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2676868 2676868 + Silent SNP G G A TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr12:2676868G>A ENST00000399655.1 + 13 2068 c.1803G>A c.(1801-1803)ctG>ctA p.L601L CACNA1C_ENST00000399601.1_Silent_p.L601L|CACNA1C_ENST00000399634.1_Silent_p.L601L|CACNA1C_ENST00000402845.3_Silent_p.L601L|CACNA1C_ENST00000399606.1_Silent_p.L601L|CACNA1C_ENST00000335762.5_Silent_p.L626L|CACNA1C_ENST00000399644.1_Silent_p.L601L|CACNA1C_ENST00000399649.1_Silent_p.L601L|CACNA1C_ENST00000399597.1_Silent_p.L601L|CACNA1C_ENST00000399629.1_Silent_p.L601L|CACNA1C_ENST00000327702.7_Silent_p.L601L|CACNA1C_ENST00000399641.1_Silent_p.L601L|CACNA1C_ENST00000399638.1_Silent_p.L601L|CACNA1C_ENST00000399591.1_Silent_p.L601L|CACNA1C_ENST00000344100.3_Silent_p.L601L|CACNA1C_ENST00000399617.1_Silent_p.L601L|CACNA1C_ENST00000347598.4_Silent_p.L601L|CACNA1C_ENST00000399637.1_Silent_p.L601L|CACNA1C_ENST00000399621.1_Silent_p.L601L|CACNA1C_ENST00000480911.1_Silent_p.L601L|CACNA1C_ENST00000399595.1_Silent_p.L601L|CACNA1C_ENST00000406454.3_Silent_p.L601L|CACNA1C_ENST00000399603.1_Silent_p.L601L NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 601 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.L601L(3)|p.L136L(1)|p.L631L(1) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCGGCATCCTGGAGACCATCC 0.582000 14 18 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 41961930 41961930 + Nonsense_Mutation SNP G G T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr15:41961930G>T ENST00000219905.7 + 2 1019 c.838G>T c.(838-840)Gaa>Taa p.E280* MGA_ENST00000566586.1_Nonsense_Mutation_p.E280*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E280*|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Nonsense_Mutation_p.E280*|MGA_ENST00000570161.1_Nonsense_Mutation_p.E280* NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 280 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CTCTGACCAAGAAGGGAATAA 0.448000 3 3 6.4e-05 7.15452e-05 1 1 0 PLEC 5339 broad.mit.edu 37 8 144990642 144990642 + Silent SNP C C G TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr8:144990642C>G ENST00000322810.4 - 32 13927 c.13758G>C c.(13756-13758)gcG>gcC p.A4586A PLEC_ENST00000357649.2_Silent_p.A4453A|PLEC_ENST00000398774.2_Silent_p.A4417A|PLEC_ENST00000527096.1_Silent_p.A4472A|PLEC_ENST00000436759.2_Silent_p.A4476A|PLEC_ENST00000345136.3_Silent_p.A4449A|PLEC_ENST00000356346.3_Silent_p.A4435A|PLEC_ENST00000354589.3_Silent_p.A4449A|PLEC_ENST00000354958.2_Silent_p.A4427A NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4586 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TGCGGTCCAGCGCGTCCTTAT 0.657000 4 246 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136892 40136892 + Missense_Mutation SNP T T A TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr11:40136892T>A ENST00000278198.2 - 2 2914 c.951A>T c.(949-951)aaA>aaT p.K317N LRRC4C_ENST00000528697.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.K317N Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 317 LRRCT. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GGGCCATGTCTTTTATCCACC 0.483000 27 28 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155254133 155254133 + Missense_Mutation SNP C C T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr4:155254133C>T ENST00000357232.3 - 9 1729 c.1730G>A c.(1729-1731)cGc>cAc p.R577H DCHS2_ENST00000339452.1_Missense_Mutation_p.R1076H NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 577 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GCTGTGTTCGCGTTTCTCGAT 0.577000 27 44 0 0 1 0 0 CYP4Z2P 0 broad.mit.edu 37 1 47325397 47325397 + RNA SNP G G C TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr1:47325397G>C ENST00000505841.1 - 0 1132 NR_002788.2 TACTACCGGTGCGTAGAGGCG 0.473000 7 75 0 0 1 0 0 XPNPEP3 63929 broad.mit.edu 37 22 41318452 41318452 + Missense_Mutation SNP C C A TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr22:41318452C>A ENST00000357137.4 + 8 1255 c.1171C>A c.(1171-1173)Ctg>Atg p.L391M XPNPEP3_ENST00000544094.1_Missense_Mutation_p.L368M NM_022098.3 NP_071381.1 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, putative 391 cellular process mitochondrion aminopeptidase activity|manganese ion binding|metallopeptidase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 GATGCTGACCCTGATAGGACA 0.453000 5 209 0.000602214 0.000647665 1 1 0 ASTN1 460 broad.mit.edu 37 1 176927554 176927554 + Missense_Mutation SNP C C G TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr1:176927554C>G ENST00000367654.2 - 10 1700 c.1687G>C c.(1687-1689)Gcc>Ccc p.A563P ASTN1_ENST00000424564.2_Missense_Mutation_p.A555P|ASTN1_ENST00000367657.3_Missense_Mutation_p.A555P|ASTN1_ENST00000361833.2_Missense_Mutation_p.A555P|ASTN1_ENST00000281881.3_5'UTR O14525 ASTN1_HUMAN astrotactin 1 563 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GCCAGTTCGGCTGGTGGAATC 0.562000 18 22 0 0 1 0 0 SERGEF 26297 broad.mit.edu 37 11 18026082 18026082 + Splice_Site SNP T T C TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr11:18026082T>C ENST00000265965.5 - 4 504 c.352_splice c.e4-1 p.E118_splice SERGEF_ENST00000532265.1_Splice_Site_p.E4_splice|SERGEF_ENST00000532212.1_5'UTR|RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000528200.1_Splice_Site_p.E118_splice NM_012139.2 NP_036271.1 Q9UGK8 SRGEF_HUMAN secretion regulating guanine nucleotide exchange factor 118 negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5) 12 TTGACCATTTTCTGCAAAATA 0.453000 7 9 0 0 1 0 0 GPR126 0 broad.mit.edu 37 6 142630689 142630689 + Missense_Mutation SNP G G A TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr6:142630689G>A ENST00000230173.6 + 2 487 c.11G>A c.(10-12)cGc>cAc p.R4H GPR126_ENST00000545477.1_3'UTR|GPR126_ENST00000367608.2_Missense_Mutation_p.R4H|GPR126_ENST00000367609.3_Missense_Mutation_p.R4H|GPR126_ENST00000296932.8_Missense_Mutation_p.R4H NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 4 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) AGGATGTTTCGCTCAGATCGA 0.393000 3 6 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6850726 6850726 + Silent SNP A A C TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr19:6850726A>C ENST00000304076.2 + 23 2203 c.2109A>C c.(2107-2109)ggA>ggC p.G703G VAV1_ENST00000599806.1_Silent_p.G670G|VAV1_ENST00000602142.1_Silent_p.G725G|VAV1_ENST00000596764.1_Silent_p.G693G|VAV1_ENST00000539284.1_Silent_p.G628G NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 725 SH2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 CAGCAGAAGGACTGTACCGGA 0.552000 27 31 0 0 1 0 0 FGF7 2252 broad.mit.edu 37 15 49716687 49716687 + Nonsense_Mutation SNP A A T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr15:49716687A>T ENST00000267843.4 + 2 804 c.193A>T c.(193-195)Aga>Tga p.R65* FGF7_ENST00000560270.1_Nonsense_Mutation_p.R65*|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron NM_002009.3 NP_002000.1 P21781 FGF7_HUMAN fibroblast growth factor 7 65 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) AGGGGATATAAGAGTGAGAAG 0.423000 3 47 0 0 1 0 0 LCN15 389812 broad.mit.edu 37 9 139656738 139656738 + Missense_Mutation SNP C C T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr9:139656738C>T ENST00000316144.5 - 5 446 c.422G>A c.(421-423)cGg>cAg p.R141Q LCN15_ENST00000482511.1_5'UTR NM_203347.1 NP_976222.1 Q6UWW0 LCN15_HUMAN lipocalin 15 141 lipid metabolic process extracellular region binding|transporter activity endometrium(1)|lung(1) 2 ATCCTGGGTCCGGCCTGGGCA 0.627000 7 5 0 0 1 0 0 CDS1 1040 broad.mit.edu 37 4 85562063 85562063 + Missense_Mutation SNP G G A rs146506985 by1000genomes TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr4:85562063G>A ENST00000295887.5 + 10 1375 c.952G>A c.(952-954)Gtg>Atg p.V318M NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 318 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) AAACTCCTTCGTGACAGAATG 0.403000 58 72 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195717061 195717061 + RNA SNP C C A TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr3:195717061C>A ENST00000427841.1 - 0 89 NR_003264.2 AGGGACTCACCGCCTTGGCCA 0.791000 4 8 0.00909568 0.0092581 1 1 0 ARID2 196528 broad.mit.edu 37 12 46211601 46211601 + Silent SNP C C T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr12:46211601C>T ENST00000334344.6 + 5 739 c.567C>T c.(565-567)caC>caT p.H189H ARID2_ENST00000422737.1_Silent_p.H40H NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 189 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AAAGCAAGCACGTCATGCAAC 0.353000 """N, S, F""" hepatocellular carcinoma 27 40 0 0 1 0 0 YBX1 4904 broad.mit.edu 37 1 43162406 43162406 + Missense_Mutation SNP C C T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr1:43162406C>T ENST00000321358.7 + 5 587 c.448C>T c.(448-450)Cgt>Tgt p.R150C YBX1_ENST00000467957.1_3'UTR NM_004559.3 NP_004550.2 P67809 YBOX1_HUMAN Y box binding protein 1 150 CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2) 16 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACGCTATCCACGTCGTAGGGG 0.517000 30 30 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100682272 100682272 + Silent SNP G G A TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr7:100682272G>A ENST00000306151.4 + 3 7639 c.7575G>A c.(7573-7575)acG>acA p.T2525T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2525 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCAGCACCACGCCAGTGGCCA 0.478000 172 209 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167656222 167656222 + Silent SNP G G A rs143568587 TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr4:167656222G>A ENST00000357154.3 - 12 1298 c.1161C>T c.(1159-1161)tcC>tcT p.S387S SPOCK3_ENST00000541354.1_Silent_p.S267S|SPOCK3_ENST00000535728.1_Silent_p.S255S|SPOCK3_ENST00000502330.1_Silent_p.S387S|SPOCK3_ENST00000534949.1_Silent_p.S291S|SPOCK3_ENST00000510741.1_Silent_p.S344S|SPOCK3_ENST00000511531.1_Silent_p.S387S|SPOCK3_ENST00000357545.4_Silent_p.S384S|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000506886.1_Silent_p.S387S|SPOCK3_ENST00000511269.1_Silent_p.S384S|SPOCK3_ENST00000504953.1_Silent_p.S384S|SPOCK3_ENST00000421836.2_Silent_p.S336S|SPOCK3_ENST00000541637.1_Silent_p.S289S|SPOCK3_ENST00000512681.1_Silent_p.S289S NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 387 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) caaaatcTCCGGAGATCTCAA 0.313000 36 37 0 0 1 0 0 ALG1L2 0 broad.mit.edu 37 3 129817105 129817105 + RNA SNP A A G TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr3:129817105A>G ENST00000507643.1 + 0 687 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups CTGATCCTGAAGGCAAGCTAA 0.527000 5 42 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210561313 210561313 + Missense_Mutation SNP G G C TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr2:210561313G>C ENST00000360351.4 + 8 4734 c.4228G>C c.(4228-4230)Gag>Cag p.E1410Q MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E1406Q|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1410 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TATTCCTAAAGAGGAGAAAGC 0.383000 17 38 0 0 1 0 0 POU2F2 5452 broad.mit.edu 37 19 42599443 42599443 + Missense_Mutation SNP G G T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr19:42599443G>T ENST00000389341.5 - 11 1144 c.1078C>A c.(1078-1080)Cat>Aat p.H360N POU2F2_ENST00000560558.1_Missense_Mutation_p.H321N|POU2F2_ENST00000526816.2_Missense_Mutation_p.H376N|POU2F2_ENST00000560398.1_Missense_Mutation_p.H382N|POU2F2_ENST00000342301.4_Missense_Mutation_p.H376N|POU2F2_ENST00000533720.1_Missense_Mutation_p.H360N|POU2F2_ENST00000529067.1_Missense_Mutation_p.H360N|POU2F2_ENST00000529952.1_Missense_Mutation_p.H376N NM_001207025.2|NM_001247994.1|NM_002698.4 NP_001193954.1|NP_001234923.1|NP_002689.1 P09086 PO2F2_HUMAN POU class 2 homeobox 2 376 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) GGTACCATATGGGGGCTGTAG 0.652000 7 11 0.00198382 0.00209403 1 1 0 EPPK1 83481 broad.mit.edu 37 8 144940884 144940884 + Missense_Mutation SNP G G C TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr8:144940884G>C ENST00000525985.1 - 2 6609 c.6538C>G c.(6538-6540)Cag>Gag p.Q2180E P58107 EPIPL_HUMAN epiplakin 1 2180 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCTGTGATCTGTCGTCTAATT 0.537000 93 262 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105372694 105372694 + Missense_Mutation SNP C C T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr10:105372694C>T ENST00000369774.4 - 12 1450 c.1174G>A c.(1174-1176)Gtg>Atg p.V392M SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.V227M|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.V254M|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.V364M|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.V259M Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 392 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) GGAACGCCCACGGCACTGCCA 0.632000 4 67 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725559 32725559 + Missense_Mutation SNP C C T rs113761247 byFrequency TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr6:32725559C>T ENST00000435145.2 - 4 809 c.748G>A c.(748-750)Ggt>Agt p.G250S HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CCTTTCTGACCCCTGTGACGG 0.552000 5 27 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 4 66 0 0 1 0 0 C10orf137 26098 broad.mit.edu 37 10 127431798 127431798 + Missense_Mutation SNP G G T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr10:127431798G>T ENST00000337623.3 + 17 2546 c.2441G>T c.(2440-2442)gGt>gTt p.G814V C10orf137_ENST00000356792.4_Missense_Mutation_p.G848V NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 848 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AATGAAATTGGTGTGTTTTAC 0.363000 11 28 6.40141e-05 7.15452e-05 1 1 0 HAPLN1 1404 broad.mit.edu 37 5 82937463 82937463 + Missense_Mutation SNP G G A TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr5:82937463G>A ENST00000274341.4 - 5 1767 c.917C>T c.(916-918)gCg>gTg p.A306V NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 306 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) CAACCAGCCCGCATCACAGCG 0.557000 5 213 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18052096 18052096 + Silent SNP C C T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr17:18052096C>T ENST00000205890.5 + 33 7124 c.6786C>T c.(6784-6786)cgC>cgT p.R2262R NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2262 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) ATGGCTGGCGCGGCTGGACCG 0.602000 10 10 0 0 1 0 0 GOLGA6L7P 0 broad.mit.edu 37 15 29093747 29093747 + RNA SNP G G A TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr15:29093747G>A ENST00000569815.1 - 0 74 NR_047567.1 TCCAGGCGAGGACAGTGATAT 0.562000 3 6 0 0 1 0 0 PIK3CD 5293 broad.mit.edu 37 1 9777159 9777159 + Missense_Mutation SNP C C T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr1:9777159C>T ENST00000536656.1 + 7 1026 c.818C>T c.(817-819)gCg>gTg p.A273V PIK3CD_ENST00000377346.4_Missense_Mutation_p.A308V|PIK3CD_ENST00000361110.2_Missense_Mutation_p.A273V O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 308 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) CCCATTCCTGCGAAGAAGGTG 0.632000 4 46 0 0 1 0 0 RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 4 7 --- --- --- --- PLEKHA8P1 0 broad.mit.edu 37 12 45566877 45566878 + RNA INS - - T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr12:45566877_45566878insT ENST00000256692.5 - 0 1807_1808 NR_037144.1 breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ttttatttttatttttttttAC 0.302 2 4 --- --- --- --- C14orf79 122616 broad.mit.edu 37 14 105461072 105461072 + Frame_Shift_Del DEL A A - TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr14:105461072delA ENST00000549240.1 + 3 2036 c.228delA c.(226-228)acfs p.T76fs C14orf79_ENST00000550614.1_Frame_Shift_Del_p.T76fs|C14orf79_ENST00000549584.1_Intron|C14orf79_ENST00000547315.1_Frame_Shift_Del_p.T318fs Q96F83 CN079_HUMAN chromosome 14 open reading frame 79 318 breast(1)|endometrium(1)|lung(1) 3 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181) TCAAACTGACACTCTTTAATA 0.473 35 48 --- --- --- --- MYLK3 91807 broad.mit.edu 37 16 46772020 46772020 + Frame_Shift_Del DEL C C - TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr16:46772020delC ENST00000394809.4 - 3 719 c.604delG c.(604-606)agfs p.E202fs MYLK3_ENST00000536476.1_Intron NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 202 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GGCAGCCTCTCCGCTGTCCCC 0.637 9 16 --- --- --- --- LGALS13 29124 broad.mit.edu 37 19 40095282 40095282 + Frame_Shift_Del DEL G G - TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr19:40095282delG ENST00000221797.4 + 2 101 c.56delG c.(55-57)tcfs p.C19fs NM_013268.2 NP_037400.1 Q9UHV8 PP13_HUMAN lectin, galactoside-binding, soluble, 13 19 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding lung(5)|ovary(1)|urinary_tract(1) 7 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) GTTGGTTCCTGCGTGATAATC 0.483 45 95 --- --- --- --- ZMYM3 9203 broad.mit.edu 37 X 70470452 70470480 + Frame_Shift_Del DEL CCCGGCCCTTTGTGACACACTTGAGCGTA CCCGGCCCTTTGTGACACACTTGAGCGTA - TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chrX:70470452_70470480delCCCGGCCCTTTGTGACACACTTGAGCGTA ENST00000373998.1 - 5 1572_1600 c.875_903delTACGCTCAAGTGTGTCACAAAGGGCCGGG c.(874-903)cfs p.LRSSVSQRAG292fs ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.LRSSVSQRAG292fs NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 292 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) CTGCAGAGCGCCCGGCCCTTTGTGACACACTTGAGCGTAGGGACATGCG 0.581 2 4 --- --- --- ---