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 SPARC 6678 broad.mit.edu 37 5 151043649 151043649 + Splice_Site SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:151043649C>G ENST00000231061.4 - 9 1195 c.882G>C c.(880-882)caG>caC p.Q294H NM_003118.3 NP_003109.1 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich (osteonectin) 294 EF-hand. ossification|platelet activation|platelet degranulation|signal transduction basement membrane|extracellular space|platelet alpha granule lumen calcium ion binding|collagen binding central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) Becaplermin(DB00102) GACACTCACTCTGCTTGATGC 0.572000 42 26 0 0 1 0 0 RAB5C 5878 broad.mit.edu 37 17 40278786 40278786 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:40278786G>C ENST00000393860.3 - 6 838 c.522C>G c.(520-522)atC>atG p.I174M CTD-2132N18.3_ENST00000592574.1_Intron|RAB5C_ENST00000346213.4_Missense_Mutation_p.I174M|RAB5C_ENST00000547517.1_Missense_Mutation_p.I207M NM_201434.2 NP_958842.1 P51148 RAB5C_HUMAN RAB5C, member RAS oncogene family 174 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GTP binding|GTPase activity|protein binding large_intestine(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) TTGCCATGAAGATTTCGTTCA 0.527000 21 91 0 0 1 0 0 RBM23 55147 broad.mit.edu 37 14 23374560 23374560 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr14:23374560G>T ENST00000359890.3 - 7 753 c.558C>A c.(556-558)ttC>ttA p.F186L RBM23_ENST00000399922.2_Missense_Mutation_p.F170L|RBM23_ENST00000346528.5_Missense_Mutation_p.F152L|RBM23_ENST00000555209.1_5'UTR|RBM23_ENST00000542016.2_Missense_Mutation_p.F16L NM_001077351.1 NP_001070819.1 Q86U06 RBM23_HUMAN RNA binding motif protein 23 186 RRM 1. mRNA processing nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1) 10 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.0128) CTACAGCAGAGAAAAAGTCCT 0.488000 50 3 1.89013e-27 2.12535e-27 1 1 0 ZNF507 22847 broad.mit.edu 37 19 32843954 32843954 + Nonsense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:32843954C>G ENST00000311921.4 + 2 410 c.218C>G c.(217-219)tCa>tGa p.S73* ZNF507_ENST00000544431.1_Nonsense_Mutation_p.S73*|ZNF507_ENST00000355898.5_Nonsense_Mutation_p.S73* NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) CGCCCACGTTCAAGTGCTGCA 0.408000 24 16 0 0 1 0 0 IFNAR2 3455 broad.mit.edu 37 21 34635353 34635353 + Nonsense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr21:34635353G>T ENST00000342136.4 + 9 1422 c.1096G>T c.(1096-1098)Gag>Tag p.E366* IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000382241.3_Nonsense_Mutation_p.E366*|IFNAR2_ENST00000404220.3_3'UTR|AP000295.9_ENST00000433395.2_Intron P48551 INAR2_HUMAN interferon (alpha, beta and omega) receptor 2 366 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) GGAGTCCGAGGAGGAGCCTGA 0.582000 14 69 9.31168e-06 9.66401e-06 1 1 0 CALD1 800 broad.mit.edu 37 7 134618796 134618796 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:134618796G>C ENST00000361675.2 + 5 1505 c.1276G>C c.(1276-1278)Gat>Cat p.D426H CALD1_ENST00000424922.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron Q05682 CALD1_HUMAN caldesmon 1 426 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 AGCACAAGAAGATAAACTTCA 0.368000 15 30 0 0 1 0 0 WSCD2 9671 broad.mit.edu 37 12 108626557 108626557 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:108626557C>T ENST00000332082.4 + 8 1847 c.1029C>T c.(1027-1029)ctC>ctT p.L343L WSCD2_ENST00000261400.3_Silent_p.L343L|WSCD2_ENST00000549903.1_Silent_p.L343L|WSCD2_ENST00000547525.1_Silent_p.L343L Q2TBF2 WSCD2_HUMAN WSC domain containing 2 343 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 CCAAGCAGCTCATTGCTTTGG 0.572000 12 26 0 0 1 0 0 IGSF3 3321 broad.mit.edu 37 1 117150565 117150565 + Splice_Site SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:117150565G>T ENST00000369486.3 - 5 1986 c.1221C>A c.(1219-1221)ctC>ctA p.L407L IGSF3_ENST00000369483.1_Splice_Site_p.L407L|IGSF3_ENST00000318837.6_Splice_Site_p.L407L NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 407 Ig-like C2-type 4. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) TCTACTTACTGAGGGGGAGGA 0.527000 12 55 1.61879e-10 1.7535e-10 1 1 0 EPN1 29924 broad.mit.edu 37 19 56206596 56206596 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:56206596C>G ENST00000411543.2 + 11 2410 c.1863C>G c.(1861-1863)ctC>ctG p.L621L EPN1_ENST00000085079.7_Silent_p.L509L|EPN1_ENST00000270460.6_Silent_p.L535L NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 535 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) AGCTCCGTCTCAGTCCTGTGC 0.716000 4 1 0 0 1 0 0 CAB39 51719 broad.mit.edu 37 2 231655632 231655632 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:231655632C>G ENST00000258418.5 + 3 589 c.160C>G c.(160-162)Ctg>Gtg p.L54V CAB39_ENST00000410084.3_Missense_Mutation_p.L54V|CAB39_ENST00000484398.1_3'UTR|CAB39_ENST00000409788.3_Missense_Mutation_p.L54V NM_016289.3 NP_057373.1 Q9Y376 CAB39_HUMAN calcium binding protein 39 54 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol kinase binding central_nervous_system(1)|large_intestine(1)|skin(1) 3 all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187) all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226) GAAAGAAATTCTGTATGGCAC 0.388000 55 0 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50705344 50705344 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr18:50705344G>T ENST00000442544.2 + 9 2047 c.1431G>T c.(1429-1431)ttG>ttT p.L477F DCC_ENST00000581580.1_Missense_Mutation_p.L132F|DCC_ENST00000412726.1_Missense_Mutation_p.L325F NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 477 Fibronectin type-III 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AACGAGCATTGAATACAACAC 0.453000 7 33 1.26484e-09 1.36241e-09 1 1 0 AKAP11 11215 broad.mit.edu 37 13 42877872 42877872 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr13:42877872C>G ENST00000025301.2 + 8 5165 c.4990C>G c.(4990-4992)Cga>Gga p.R1664G NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1664 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) AAAAGCTGAGCGAGAGCTGAG 0.498000 10 24 0 0 1 0 0 BSCL2 26580 broad.mit.edu 37 11 62462175 62462175 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:62462175C>T ENST00000433053.1 - 5 1051 c.495G>A c.(493-495)atG>atA p.M165I BSCL2_ENST00000405837.1_Missense_Mutation_p.M165I|BSCL2_ENST00000421906.1_Missense_Mutation_p.M101I|BSCL2_ENST00000407022.3_Missense_Mutation_p.M101I|BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.M165I|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Missense_Mutation_p.M101I|BSCL2_ENST00000278893.7_Missense_Mutation_p.M101I Q96G97 BSCL2_HUMAN Berardinelli-Seip congenital lipodystrophy 2 (seipin) 101 cell death integral to endoplasmic reticulum membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 12 GCTGTCCATACATCAGCACCT 0.473000 OREG0021029 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 35 0 0 1 0 0 SCAF8 22828 broad.mit.edu 37 6 155145433 155145433 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:155145433G>A ENST00000367178.3 + 17 2568 c.1992G>A c.(1990-1992)ccG>ccA p.P664P SCAF8_ENST00000367186.4_Silent_p.P730P|SCAF8_ENST00000417268.1_Silent_p.P664P NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 664 Pro-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 TGTCGATGCCGGTTCCTCCTC 0.453000 35 83 0 0 1 0 0 STAC 6769 broad.mit.edu 37 3 36527675 36527675 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:36527675C>T ENST00000273183.3 + 5 921 c.621C>T c.(619-621)acC>acT p.T207T STAC_ENST00000457375.2_Silent_p.T146T|STAC_ENST00000476388.1_3'UTR NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 207 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 GCTTCGGCACCTCCCTGGCCC 0.552000 12 92 0 0 1 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26031895 26031895 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:26031895G>C ENST00000244661.2 - 1 393 c.394C>G c.(394-396)Cgc>Ggc p.R132G NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 132 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 CTTTCTCCGCGAATGCGGCGA 0.478000 4 37 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70650351 70650351 + Silent SNP A A C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr8:70650351A>C ENST00000260126.4 - 5 2053 c.1347T>G c.(1345-1347)acT>acG p.T449T SLCO5A1_ENST00000530307.1_Intron|SLCO5A1_ENST00000524945.1_Silent_p.T449T NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TAATGAAAGCAGTTACAATGG 0.468000 10 30 0 0 1 0 0 TRIM33 51592 broad.mit.edu 37 1 114940585 114940585 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:114940585C>G ENST00000358465.2 - 19 3231 c.3148G>C c.(3148-3150)Gac>Cac p.D1050H TRIM33_ENST00000450349.2_Missense_Mutation_p.D682H|TRIM33_ENST00000369543.2_Intron NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 1050 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TCTTGTGTGTCTGCATAAACT 0.333000 T RET papillary thyroid 33 196 0 0 1 0 0 C1R 715 broad.mit.edu 37 12 7241973 7241973 + Silent SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:7241973C>A ENST00000542285.1 - 5 830 c.681G>T c.(679-681)cgG>cgT p.R227R P00736 C1R_HUMAN complement component 1, r subcomponent 228 CUB 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GGGTGAGGCCCCGCTCCACCC 0.597000 5 12 0.014758 0.014933 1 1 0 OPLAH 26873 broad.mit.edu 37 8 145109730 145109730 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr8:145109730C>G ENST00000426825.1 - 18 2577 c.2496G>C c.(2494-2496)ctG>ctC p.L832L OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 832 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) TGATAACAGTCAGGTCTGGCA 0.647000 12 25 0 0 1 0 0 MARC1 64757 broad.mit.edu 37 1 220970027 220970027 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:220970027C>T ENST00000366910.5 + 3 678 c.492C>T c.(490-492)gcC>gcT p.A164A MARC1_ENST00000496110.1_3'UTR NM_022746.3 NP_073583.3 Q5VT66 MOSC1_HUMAN mitochondrial amidoxime reducing component 1 164 molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding GTGGCGAGGCCACCGCCCAGT 0.577000 5 27 0 0 1 0 0 STAC2 342667 broad.mit.edu 37 17 37371452 37371452 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:37371452C>G ENST00000333461.5 - 5 987 c.618G>C c.(616-618)gaG>gaC p.E206D NM_198993.3 NP_945344.1 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 206 intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 AGCGCAGGGTCTCGTAGACAG 0.597000 12 27 0 0 1 0 0 SLC7A8 23428 broad.mit.edu 37 14 23598904 23598904 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr14:23598904C>T ENST00000316902.7 - 9 1943 c.1218G>A c.(1216-1218)caG>caA p.Q406Q SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000422941.2_Silent_p.Q182Q|SLC7A8_ENST00000529705.2_Silent_p.Q301Q|SLC7A8_ENST00000453702.1_Silent_p.Q203Q NM_012244.3 NP_036376.2 Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 406 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) GAAGGACTATCTGTCCAGCAA 0.542000 95 5 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102743827 102743827 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:102743827G>C ENST00000210633.3 + 14 2549 c.2471G>C c.(2470-2472)cGc>cCc p.R824P MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.R819P|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Missense_Mutation_p.A157G|MRPL43_ENST00000370242.4_Missense_Mutation_p.A157G|SEMA4G_ENST00000517724.1_Intron|RP11-108L7.4_ENST00000447344.1_RNA Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 819 cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) GAACTCAGCCGCATCCTGGAA 0.572000 8 52 0 0 1 0 0 PDIA5 10954 broad.mit.edu 37 3 122864377 122864377 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:122864377C>T ENST00000316218.7 + 12 1014 c.919C>T c.(919-921)Cac>Tac p.H307Y PDIA5_ENST00000467157.1_3'UTR NM_006810.3 NP_006801.1 Q14554 PDIA5_HUMAN protein disulfide isomerase family A, member 5 307 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 21 GBM - Glioblastoma multiforme(114;0.0427) AGGGTGTGGCCACTGTAAGAA 0.552000 22 20 0 0 1 0 0 LCA10 100996465 broad.mit.edu 37 X 153154028 153154028 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chrX:153154028C>T ENST00000357566.1 + 7 975 c.469C>T c.(469-471)Cca>Tca p.P157S GACGCAGAAGCCACAGACGAC 0.577000 6 0 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784494 9784494 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:9784494G>A ENST00000304374.2 + 1 1237 c.841G>A c.(841-843)Gac>Aac p.D281N NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 281 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane p.D281N(2) NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CTGCGCGCCCGACACCAGCCT 0.632000 7 11 0 0 1 0 0 MAPRE1 22919 broad.mit.edu 37 20 31421603 31421603 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr20:31421603G>C ENST00000375571.5 + 3 341 c.202G>C c.(202-204)Gaa>Caa p.E68Q NM_012325.2 NP_036457.1 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, member 1 68 CH. cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 AGCTAAGCTAGAACACGAGTA 0.398000 14 50 0 0 1 0 0 EXD1 161829 broad.mit.edu 37 15 41482164 41482164 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr15:41482164C>T ENST00000314992.5 - 9 1043 c.853G>A c.(853-855)Ggg>Agg p.G285R EXD1_ENST00000458580.2_Missense_Mutation_p.G343R NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 285 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 TCTGCAGACCCTTCGCGATAC 0.537000 15 48 0 0 1 0 0 CTSH 1512 broad.mit.edu 37 15 79220067 79220067 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr15:79220067G>A ENST00000220166.5 - 9 796 c.687C>T c.(685-687)gcC>gcT p.A229A CTSH_ENST00000534533.1_5'UTR NM_004390.3 NP_004381.2 P09668 CATH_HUMAN cathepsin H 229 protein destabilization|proteolysis lysosome cysteine-type endopeptidase activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1) 10 TTGTGATGTTGGCTACATCCT 0.532000 23 14 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70902582 70902582 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:70902582A>G ENST00000393567.2 - 66 11351 c.11201T>C c.(11200-11202)aTg>aCg p.M3734T NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3734 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GAGCTGAAACATAATCCTGGA 0.532000 14 27 0 0 1 0 0 CASC3 22794 broad.mit.edu 37 17 38297840 38297840 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:38297840G>A ENST00000264645.7 + 3 503 c.277G>A c.(277-279)Gaa>Aaa p.E93K NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 93 mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 CTCGGATTATGAAAGTGCAGA 0.368000 20 111 0 0 1 0 0 PSTK 118672 broad.mit.edu 37 10 124740055 124740055 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:124740055C>G ENST00000405485.1 + 1 126 c.60C>G c.(58-60)ctC>ctG p.L20L PSTK_ENST00000368887.3_Silent_p.L20L Q8IV42 PSTK_HUMAN phosphoseryl-tRNA kinase 20 ATP binding|kinase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2) 13 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725) AACGAGGCCTCTGCGTCCTCT 0.687000 OREG0020597 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 6 0 0 1 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40847788 40847788 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:40847788G>T ENST00000264638.4 + 19 3459 c.3242G>T c.(3241-3243)gGa>gTa p.G1081V CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 1081 axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) AACGTTACGGGAGAGGAGGTC 0.617000 5 27 0.000602214 0.000619144 1 1 0 FLVCR1 28982 broad.mit.edu 37 1 213046052 213046052 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:213046052C>G ENST00000366971.4 + 3 1114 c.916C>G c.(916-918)Cag>Gag p.Q306E NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 306 cell death|cellular iron ion homeostasis|heme export|transmembrane transport integral to plasma membrane heme transporter activity|protein binding|receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) TCCACCAAGTCAGGCTCAAGC 0.333000 5 43 0 0 1 0 0 TIGD2 166815 broad.mit.edu 37 4 90034702 90034702 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:90034702C>G ENST00000317005.2 + 1 735 c.577C>G c.(577-579)Ctt>Gtt p.L193V NM_145715.2 NP_663761.1 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 193 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 14 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) GACATTAACTCTTGAAACTGA 0.378000 9 39 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101198219 101198219 + Nonsense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:101198219G>T ENST00000294728.2 + 7 1872 c.1771G>T c.(1771-1773)Gaa>Taa p.E591* VCAM1_ENST00000370119.4_Nonsense_Mutation_p.E529*|VCAM1_ENST00000370115.1_Nonsense_Mutation_p.E392*|VCAM1_ENST00000347652.2_Nonsense_Mutation_p.E499* NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 591 Ig-like C2-type 6. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) AAGCAGAAAGGAAGTGGAATT 0.353000 40 45 1.7489e-18 1.94379e-18 1 1 0 DPAGT1 1798 broad.mit.edu 37 11 118967723 118967723 + Silent SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:118967723G>C ENST00000409993.2 - 11 2763 c.1212C>G c.(1210-1212)ctC>ctG p.L404L DPAGT1_ENST00000432443.2_Silent_p.L323L|DPAGT1_ENST00000354202.4_Silent_p.L404L Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 404 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) CATCATAGAAGAGTCGAACGA 0.507000 13 12 0 0 1 0 0 MAPK11 5600 broad.mit.edu 37 22 50705835 50705835 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr22:50705835G>C ENST00000330651.6 - 4 482 c.382C>G c.(382-384)Caa>Gaa p.Q128E MAPK11_ENST00000449719.2_Missense_Mutation_p.Q20E|MAPK11_ENST00000495277.1_5'UTR NM_002751.5 NP_002742.3 Q15759 MK11_HUMAN mitogen-activated protein kinase 11 128 Protein kinase. activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding breast(1)|central_nervous_system(1)|lung(4) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ACCAGGAATTGAACGTGCTCG 0.701000 4 9 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9514926 9514926 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:9514926G>C ENST00000281419.3 + 17 1939 c.1599G>C c.(1597-1599)agG>agC p.R533S ASAP2_ENST00000315273.4_Missense_Mutation_p.R533S NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 533 Arf-GAP. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 ACATCGAGAGGAGATACGCAA 0.498000 7 58 0 0 1 0 0 OR8K1 390157 broad.mit.edu 37 11 56114282 56114282 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:56114282G>T ENST00000279783.2 + 1 862 c.768G>T c.(766-768)atG>atT p.M256I NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) TGGTGATCATGTTCTATGGGA 0.408000 HNSCC(65;0.19) 34 9 9.17885e-22 1.02313e-21 1 1 0 CENPE 1062 broad.mit.edu 37 4 104102526 104102526 + Nonsense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:104102526C>A ENST00000265148.3 - 12 1140 c.1051G>T c.(1051-1053)Gaa>Taa p.E351* CENPE_ENST00000509120.1_5'UTR|CENPE_ENST00000380026.3_Nonsense_Mutation_p.E351* NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 351 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TCCATTATTTCTTTTCTATAC 0.308000 8 33 0.000157383 0.000162679 1 1 0 FLAD1 80308 broad.mit.edu 37 1 154956408 154956408 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:154956408G>C ENST00000368433.1 + 1 581 c.238G>C c.(238-240)Ggg>Cgg p.G80R FLAD1_ENST00000368432.1_5'UTR|FLAD1_ENST00000292180.3_Missense_Mutation_p.G80R|FLAD1_ENST00000368431.3_5'UTR|FLAD1_ENST00000315144.10_5'UTR|FLAD1_ENST00000487371.1_3'UTR Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 80 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) ACCCCTATTTGGGGGTCTGGG 0.657000 6 26 0 0 1 0 0 TFF2 7032 broad.mit.edu 37 21 43767690 43767690 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr21:43767690G>C ENST00000291526.4 - 3 451 c.281C>G c.(280-282)cCg>cGg p.P94R TFF2_ENST00000475297.1_5'UTR NM_005423.4 NP_005414.1 Q03403 TFF2_HUMAN trefoil factor 2 94 P-type 2. digestion extracellular region large_intestine(1)|pancreas(1)|urinary_tract(1) 3 GCTGATGCCCGGGTAGCCACA 0.587000 4 38 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61832706 61832706 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:61832706C>G ENST00000280772.2 - 37 8124 c.7933G>C c.(7933-7935)Gag>Cag p.E2645Q ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTAACCCACTCATCATTGGAT 0.527000 29 29 0 0 1 0 0 SRGAP2 23380 broad.mit.edu 37 1 206634596 206634596 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:206634596G>T ENST00000414007.1 + 19 2627 c.2627G>T c.(2626-2628)gGg>gTg p.G876V O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 1016 Ser-rich. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) AGTACTGCTGGGGACATCGCC 0.662000 6 15 0.00116845 0.00119489 1 1 0 LMOD1 25802 broad.mit.edu 37 1 201869728 201869728 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:201869728C>G ENST00000367288.4 - 2 659 c.413G>C c.(412-414)aGa>aCa p.R138T NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 138 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 AGCTTCATCTCTGTCTCTAGA 0.562000 22 75 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144931522 144931522 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:144931522G>C ENST00000529945.1 - 1 626 c.187C>G c.(187-189)Cga>Gga p.R63G PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R63G|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTGTCGAATCGATAGATTCGA 0.512000 T PDGFRB MPD 26 55 0 0 1 0 0 OSBPL9 114883 broad.mit.edu 37 1 52227592 52227592 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:52227592C>T ENST00000371710.3 + 11 963 c.781C>T c.(781-783)Cct>Tct p.P261S OSBPL9_ENST00000435686.2_Missense_Mutation_p.P78S|OSBPL9_ENST00000447887.1_Missense_Mutation_p.P253S|OSBPL9_ENST00000486942.1_Missense_Mutation_p.P65S|OSBPL9_ENST00000371714.1_Missense_Mutation_p.P230S|OSBPL9_ENST00000530544.1_Missense_Mutation_p.P162S|OSBPL9_ENST00000531828.1_Missense_Mutation_p.P78S|OSBPL9_ENST00000453295.1_Missense_Mutation_p.P226S|OSBPL9_ENST00000361556.5_Missense_Mutation_p.P133S|OSBPL9_ENST00000462759.1_Missense_Mutation_p.P65S|OSBPL9_ENST00000337809.4_Missense_Mutation_p.P248S|OSBPL9_ENST00000428468.1_Missense_Mutation_p.P243S NM_024586.5|NM_148906.2 NP_078862.4|NP_683704.2 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 243 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 ACCAGTTGGACCTGTGTTGGC 0.403000 28 98 0 0 1 0 0 FRRS1 391059 broad.mit.edu 37 1 100214168 100214168 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:100214168C>G ENST00000414213.1 - 3 758 c.157G>C c.(157-159)Gtg>Ctg p.V53L FRRS1_ENST00000287474.5_Missense_Mutation_p.V53L Q6ZNA5 FRRS1_HUMAN ferric-chelate reductase 1 53 Reelin. electron transport chain|transport integral to membrane ferric-chelate reductase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 26 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) ATCTGACTCACGTAAATGTCA 0.403000 14 71 0 0 1 0 0 GPR114 221188 broad.mit.edu 37 16 57600606 57600606 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:57600606C>G ENST00000340339.4 + 7 1165 c.642C>G c.(640-642)ccC>ccG p.P214P GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Silent_p.P214P NM_153837.1 NP_722579.1 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 214 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1) 23 CAGAGCAGCCCTCCCACTCTC 0.612000 11 17 0 0 1 0 0 SCUBE2 57758 broad.mit.edu 37 11 9052473 9052473 + Splice_Site SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:9052473C>T ENST00000457346.2 - 18 2248 c.e18-1 SCUBE2_ENST00000450649.2_Splice_Site|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Splice_Site|SCUBE2_ENST00000520467.1_Splice_Site Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) TGACACAGACCTGGAAGGACC 0.547000 3 8 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132213934 132213934 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:132213934A>G ENST00000260818.6 + 35 4192 c.3944A>G c.(3943-3945)cAt>cGt p.H1315R NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1315 J. heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TTTAACAGGCATGATGAGAGC 0.338000 32 16 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133794736 133794736 + Missense_Mutation SNP T T A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:133794736T>A ENST00000321016.8 - 15 2328 c.2098A>T c.(2098-2100)Atc>Ttc p.I700F IGSF9B_ENST00000533871.2_Missense_Mutation_p.I700F Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 700 Fibronectin type-III 2. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) ACGCCGGCGATGTTGCTGGGC 0.572000 21 76 0 0 1 0 0 APOL1 8542 broad.mit.edu 37 22 36662037 36662037 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr22:36662037C>T ENST00000319136.4 + 7 1470 c.1203C>T c.(1201-1203)ctC>ctT p.L401L APOL1_ENST00000426053.1_Silent_p.L367L|APOL1_ENST00000397279.4_Silent_p.L385L|APOL1_ENST00000347595.7_Silent_p.L264L|APOL1_ENST00000422706.1_Silent_p.L385L|APOL1_ENST00000397278.3_Silent_p.L385L NM_145343.2 NP_663318.1 O14791 APOL1_HUMAN apolipoprotein L, 1 385 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 TAAACATTCTCAACAATAATT 0.517000 12 58 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171079942 171079942 + Missense_Mutation SNP A A T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:171079942A>T ENST00000367755.4 + 6 742 c.631A>T c.(631-633)Atg>Ttg p.M211L FMO3_ENST00000392085.2_Missense_Mutation_p.M211L|FMO3_ENST00000542847.1_Missense_Mutation_p.M191L|FMO3_ENST00000538429.1_Missense_Mutation_p.M148L NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 211 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTTTAAGGTCATGATCAGTTC 0.468000 82 79 0 0 1 0 0 CCDC64 92558 broad.mit.edu 37 12 120518740 120518740 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:120518740G>C ENST00000397558.2 + 7 1358 c.1358G>C c.(1357-1359)cGa>cCa p.R453P CCDC64_ENST00000446727.2_Missense_Mutation_p.R124P|CCDC64_ENST00000257583.4_Missense_Mutation_p.R150P NM_207311.2 NP_997194.2 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 453 Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding p.R453Q(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GAGAGAGACCGACTCAGAGTC 0.527000 8 37 0 0 1 0 0 NEGR1 257194 broad.mit.edu 37 1 72400883 72400883 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:72400883C>G ENST00000357731.5 - 2 527 c.288G>C c.(286-288)ttG>ttC p.L96F NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.L94F NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) CCCTTTTATTCAATGTTGAAA 0.448000 11 44 0 0 1 0 0 VAV2 7410 broad.mit.edu 37 9 136662855 136662855 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:136662855C>T ENST00000371851.1 - 9 1223 c.898G>A c.(898-900)Gag>Aag p.E300K VAV2_ENST00000371850.3_Missense_Mutation_p.E305K|VAV2_ENST00000406606.3_Missense_Mutation_p.E300K P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 305 DH. angiogenesis|apoptosis|axon guidance|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 cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) CTGAAGTCCTCCCGGCTGGCC 0.617000 4 7 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83858483 83858483 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:83858483C>T ENST00000349129.2 + 27 5998 c.5738C>T c.(5737-5739)cCa>cTa p.P1913L DOPEY1_ENST00000369739.3_Missense_Mutation_p.P1904L|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Intron NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1913 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TGCAGAATTCCAGTGCCCAAT 0.368000 9 30 0 0 1 0 0 WEE1 7465 broad.mit.edu 37 11 9597639 9597639 + Splice_Site SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:9597639G>C ENST00000299613.6 + 2 894 c.139G>C c.(139-141)Gat>Cat p.D47H WEE1_ENST00000450114.2_Splice_Site_p.D261H NM_001143976.1 NP_001137448.1 P30291 WEE1_HUMAN WEE1 G2 checkpoint kinase 261 blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 23 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) GTATTGGAATGAGTAAGTCGT 0.363000 18 18 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117376238 117376238 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:117376238C>G ENST00000321322.6 - 9 2174 c.2173G>C c.(2173-2175)Ggc>Cgc p.G725R DSCAML1_ENST00000527706.1_Missense_Mutation_p.G455R NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 665 Ig-like C2-type 8. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GTATAGTTGCCGTTGTGCTTG 0.617000 6 32 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232596693 232596693 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:232596693C>T ENST00000366630.1 - 9 3393 c.3035G>A c.(3034-3036)cGt>cAt p.R1012H SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1012H|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R86H Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1012 PDZ. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CACAGAAGTACGGAGCAGGTC 0.592000 5 23 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17586161 17586161 + Nonsense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:17586161G>T ENST00000375460.3 + 2 221 c.181G>T c.(181-183)Gag>Tag p.E61* NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 61 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GAGGGGCCGGGAGCGTGCAGA 0.592000 11 23 3.07112e-06 3.22216e-06 1 1 0 NOTCH1 4851 broad.mit.edu 37 9 139409131 139409131 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:139409131C>A ENST00000277541.6 - 13 2113 c.2038G>T c.(2038-2040)Gat>Tat p.D680Y NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 680 EGF-like 18; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCACACTCATCGATGTTGATG 0.652000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 3 12 0.004672 0.00474616 1 1 0 PRDM9 56979 broad.mit.edu 37 5 23526739 23526739 + Silent SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:23526739G>C ENST00000296682.3 + 11 1724 c.1542G>C c.(1540-1542)gtG>gtC p.V514V NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 514 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.V514V(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AATTATTTGTGGGGGTAGGAA 0.418000 HNSCC(3;0.000094) 9 42 0 0 1 0 0 SENP6 26054 broad.mit.edu 37 6 76421112 76421112 + Silent SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:76421112A>G ENST00000370014.3 + 21 3508 c.2889A>G c.(2887-2889)ttA>ttG p.L963L SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Silent_p.L956L|SENP6_ENST00000447266.2_Silent_p.L963L NM_001100409.1 NP_001093879.1 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 963 Protease. proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(105;0.189) AGTGGCATTTAAAGCCTACTA 0.338000 15 9 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33286937 33286937 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:33286937G>A ENST00000374542.5 - 7 2204 c.2000C>T c.(1999-2001)cCc>cTc p.P667L DAXX_ENST00000266000.6_Missense_Mutation_p.P667L|DAXX_ENST00000414083.2_Missense_Mutation_p.P592L NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 667 Interaction with SPOP. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 AGGTGGGCTGGGCAGGGTACA 0.537000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 19 56 0 0 1 0 0 BCHE 590 broad.mit.edu 37 3 165547568 165547568 + Silent SNP A A C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:165547568A>C ENST00000264381.3 - 2 1420 c.1254T>G c.(1252-1254)ggT>ggG p.G418G BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 418 G -> V (in BChE deficiency; allele fluoride-2; dbSNP:rs28933390). choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) CAACAACATCACCCAAGGCCT 0.418000 5 51 0 0 1 0 0 KCNIP1 30820 broad.mit.edu 37 5 170148786 170148786 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:170148786C>A ENST00000434108.1 + 4 281 c.281C>A c.(280-282)cCc>cAc p.P94H KCNIP1_ENST00000328939.4_Intron|KCNIP1_ENST00000520740.1_Intron|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000390656.4_Intron|KCNIP1_ENST00000411494.1_Intron Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 96 EF-hand 1; degenerate. detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAAGGTTCTCCCTGTGTGGAA 0.517000 20 8 1.2644e-06 1.33388e-06 1 1 0 ARFGEF2 10564 broad.mit.edu 37 20 47614730 47614730 + Splice_Site SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr20:47614730G>C ENST00000371917.4 + 24 3222 c.3222G>C c.(3220-3222)agG>agC p.R1074S ARFGEF2_ENST00000493140.1_3'UTR NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1074 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) ATCTTCCTAGGATTTTTACTG 0.463000 8 29 0 0 1 0 0 PTHLH 5744 broad.mit.edu 37 12 28116418 28116418 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:28116418C>T ENST00000535992.1 - 3 733 c.387G>A c.(385-387)aaG>aaA p.K129K RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000539239.1_Silent_p.K129K|PTHLH_ENST00000545234.1_Silent_p.K129K|PTHLH_ENST00000201015.4_Silent_p.K129K|PTHLH_ENST00000354417.3_Silent_p.K129K|PTHLH_ENST00000538310.1_Silent_p.K129K|PTHLH_ENST00000395872.1_Silent_p.K129K|PTHLH_ENST00000395868.3_Silent_p.K129K P12272 PTHR_HUMAN parathyroid hormone-like hormone 129 activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 10 Lung SC(9;0.184) GTTTCCCGGGCTTGCCTTTCT 0.527000 31 42 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103281672 103281672 + Silent SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:103281672C>A ENST00000233969.2 + 3 1009 c.867C>A c.(865-867)ggC>ggA p.G289G NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 289 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TGCTGATTGGCATCTTCTTGG 0.438000 29 93 4.87955e-14 5.35357e-14 1 1 0 MROH9 80133 broad.mit.edu 37 1 170959073 170959073 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:170959073C>G ENST00000367759.4 + 11 1111 c.957C>G c.(955-957)atC>atG p.I319M MROH9_ENST00000367758.3_Missense_Mutation_p.I319M NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 TGCAGGTTATCACTTTGTTGA 0.453000 64 84 0 0 1 0 0 GAPT 202309 broad.mit.edu 37 5 57790631 57790631 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:57790631C>G ENST00000396776.2 + 3 730 c.268C>G c.(268-270)Cac>Gac p.H90D GAPT_ENST00000318469.2_Missense_Mutation_p.H90D NM_152687.2 NP_689900.1 Q8N292 GAPT_HUMAN GRB2-binding adaptor protein, transmembrane 90 B cell activation integral to membrane|plasma membrane NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 AAATAACACACACGACAACTA 0.438000 6 33 0 0 1 0 0 IFI16 3428 broad.mit.edu 37 1 158984609 158984609 + Nonsense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:158984609C>T ENST00000295809.7 + 2 394 c.139C>T c.(139-141)Cag>Tag p.Q47* IFI16_ENST00000340979.6_Nonsense_Mutation_p.Q47*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.Q51*|IFI16_ENST00000368132.3_Nonsense_Mutation_p.Q47*|IFI16_ENST00000448393.2_Nonsense_Mutation_p.Q47*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.Q47*|IFI16_ENST00000368131.4_Nonsense_Mutation_p.Q47* Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 47 DAPIN.|Lys-rich. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) TGACAAAATTCAGATTGCTGA 0.343000 13 69 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8890306 8890306 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:8890306G>A ENST00000256707.3 - 24 3531 c.3350C>T c.(3349-3351)tCa>tTa p.S1117L KIDINS220_ENST00000418530.1_Missense_Mutation_p.S1075L|KIDINS220_ENST00000473731.1_Missense_Mutation_p.S1117L|KIDINS220_ENST00000427284.1_Missense_Mutation_p.S1117L NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1117 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AGGCTGTGGTGACACCACTCC 0.557000 51 2 0 0 1 0 0 NPHP4 261734 broad.mit.edu 37 1 6021918 6021918 + Silent SNP A A C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:6021918A>C ENST00000378156.4 - 6 874 c.609T>G c.(607-609)ccT>ccG p.P203P NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 203 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) GAAGGTTCTCAGGAAGAAGGT 0.552000 6 13 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121883152 121883152 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:121883152C>G ENST00000377069.4 - 14 2342 c.1936G>C c.(1936-1938)Gag>Cag p.E646Q KDM2B_ENST00000542973.1_Missense_Mutation_p.E45Q|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.E677Q NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 677 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 TTGCCTTCCTCCTCTTCCACC 0.577000 6 40 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72050733 72050733 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:72050733C>T ENST00000378743.3 - 2 1305 c.947G>A c.(946-948)cGt>cAt p.R316H ZFC3H1_ENST00000548100.1_Missense_Mutation_p.R316H|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.R316H NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 316 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TTTTTTCAAACGGTTCTTATC 0.348000 17 75 0 0 1 0 0 DHX40 79665 broad.mit.edu 37 17 57679910 57679910 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:57679910G>A ENST00000451169.2 + 18 2049 c.1690G>A c.(1690-1692)Gaa>Aaa p.E564K DHX40_ENST00000251241.4_Missense_Mutation_p.E612K|DHX40_ENST00000425628.3_Missense_Mutation_p.E535K Q8IX18 DHX40_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 40 612 ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(7)|large_intestine(6)|lung(6)|prostate(1) 20 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) AGAGACCTTTGAAGGCCCTAA 0.338000 26 78 0 0 1 0 0 SEC23B 10483 broad.mit.edu 37 20 18507016 18507016 + Splice_Site SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr20:18507016G>A ENST00000336714.3 + 8 1266 c.e8-1 SEC23B_ENST00000377465.1_Splice_Site|SEC23B_ENST00000377475.3_Splice_Site|SEC23B_ENST00000262544.2_Splice_Site NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 CGCTATTTTAGGGCACTTTTC 0.453000 16 20 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25953413 25953413 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr15:25953413C>G ENST00000356865.6 - 11 2490 c.2379G>C c.(2377-2379)cgG>cgC p.R793R NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 793 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GAGTTTTGCTCCGAATCTTTT 0.537000 21 33 0 0 1 0 0 BRD1 23774 broad.mit.edu 37 22 50217030 50217030 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr22:50217030G>A ENST00000216267.8 - 1 1422 c.936C>T c.(934-936)atC>atT p.I312I BRD1_ENST00000404034.1_Silent_p.I312I|BRD1_ENST00000457780.2_Silent_p.I312I|BRD1_ENST00000404760.1_Silent_p.I312I NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 312 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) TCACCCCATCGATGGGCTCGA 0.577000 13 38 0 0 1 0 0 CAPN1 823 broad.mit.edu 37 11 64954758 64954758 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:64954758G>T ENST00000527323.1 + 6 1072 c.832G>T c.(832-834)Ggg>Tgg p.G278W CAPN1_ENST00000533820.1_Missense_Mutation_p.G278W|CAPN1_ENST00000524773.1_Missense_Mutation_p.G278W|CAPN1_ENST00000533129.1_Missense_Mutation_p.G278W|CAPN1_ENST00000279247.6_Missense_Mutation_p.G278W P07384 CAN1_HUMAN calpain 1, (mu/I) large subunit 278 Calpain catalytic. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) CTCTGTGACCGGGGCCAAGCA 0.602000 3 8 1 1 1 1 0 COL22A1 169044 broad.mit.edu 37 8 139629196 139629196 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr8:139629196G>C ENST00000303045.6 - 54 4277 c.3831C>G c.(3829-3831)ttC>ttG p.F1277L COL22A1_ENST00000435777.1_Missense_Mutation_p.F1257L|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1277 Collagen-like 12.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TGTGTCCCTTGAAGCCCTAGA 0.592000 HNSCC(7;0.00092) 6 51 0 0 1 0 0 TDRD7 23424 broad.mit.edu 37 9 100190852 100190852 + Silent SNP T T A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:100190852T>A ENST00000355295.4 + 2 400 c.105T>A c.(103-105)acT>acA p.T35T TDRD7_ENST00000422139.2_Intron NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 35 Lotus/OST-HTH 1. lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) GATCCTTGACTGGAGACTGGA 0.488000 8 13 0 0 1 0 0 NKG7 4818 broad.mit.edu 37 19 51875193 51875193 + Splice_Site SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:51875193C>T ENST00000221978.5 - 3 619 c.e3+1 NKG7_ENST00000600427.1_Intron|NKG7_ENST00000595217.1_Splice_Site NM_005601.3 NP_005592.1 Q16617 NKG7_HUMAN natural killer cell group 7 sequence integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) AGGATAGTCACCTGTACAGAG 0.607000 31 27 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51172928 51172928 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:51172928G>C ENST00000440970.1 - 2 3345 c.2914C>G c.(2914-2916)Ccc>Gcc p.P972A SALL1_ENST00000251020.4_Missense_Mutation_p.P1069A|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1069 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TTCTGATTGGGGCCAAGGTTG 0.507000 6 18 0 0 1 0 0 GNA13 10672 broad.mit.edu 37 17 63010911 63010911 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:63010911T>C ENST00000439174.2 - 4 843 c.598A>G c.(598-600)Aga>Gga p.R200G GNA13_ENST00000541118.1_Missense_Mutation_p.R105G NM_006572.4 NP_006563.2 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), alpha 13 200 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1) 34 GTGGGTCTTCTGGCAAGCAGA 0.353000 5 29 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157667532 157667532 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:157667532C>A ENST00000368184.3 - 5 767 c.476G>T c.(475-477)aGc>aTc p.S159I FCRL3_ENST00000368186.5_Missense_Mutation_p.S159I|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 159 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) ATGATATTTGCTATTATCCCT 0.333000 6 90 0.0215528 0.0217796 1 1 0 GINS4 84296 broad.mit.edu 37 8 41399415 41399415 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr8:41399415A>G ENST00000523277.2 + 7 739 c.572A>G c.(571-573)cAg>cGg p.Q191R GINS4_ENST00000276533.3_Missense_Mutation_p.Q191R|RP11-360L9.7_ENST00000524133.1_RNA|GINS4_ENST00000518671.1_Missense_Mutation_p.Q191R|RP11-360L9.4_ENST00000523081.1_RNA Q9BRT9 SLD5_HUMAN GINS complex subunit 4 (Sld5 homolog) 191 Important for GINS complex assembly. DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm breast(1)|lung(2)|skin(1) 4 Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147) ACAGATGAGCAGAGGTGAGTG 0.498000 39 3 0 0 1 0 0 FAM46C 54855 broad.mit.edu 37 1 118165524 118165524 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:118165524A>G ENST00000369448.3 + 2 281 c.34A>G c.(34-36)Atg>Gtg p.M12V NM_017709.3 NP_060179.2 Q5VWP2 FA46C_HUMAN family with sequence similarity 46, member C 12 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) CAGGGATTGCATGTCCTTCAG 0.532000 """Mis, F, O""" MM Multiple Myeloma(3;1.13e-06) 5 33 0 0 1 0 0 CSAD 51380 broad.mit.edu 37 12 53553411 53553411 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:53553411G>A ENST00000267085.4 - 16 1618 c.1385C>T c.(1384-1386)tCa>tTa p.S462L CSAD_ENST00000444623.1_Missense_Mutation_p.S435L|CSAD_ENST00000379846.1_Missense_Mutation_p.S288L|RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000453446.2_Missense_Mutation_p.S435L|CSAD_ENST00000379843.3_Missense_Mutation_p.S288L NM_001244706.1|NM_015989.4 NP_001231635.1|NP_057073.4 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 435 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4) 14 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) GCCTACCTTTGACAGCCTTTC 0.562000 OREG0021859 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 11 0 0 1 0 0 TEAD3 7005 broad.mit.edu 37 6 35454346 35454346 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:35454346C>G ENST00000338863.7 - 2 321 c.94G>C c.(94-96)Gag>Cag p.E32Q TEAD3_ENST00000402886.3_Silent_p.R14R NM_003214.3 NP_003205 Q99594 TEAD3_HUMAN TEA domain family member 3 32 female pregnancy|hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 10 CACACGCCCTCCGCATCGTTG 0.682000 12 27 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130380797 130380797 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:130380797C>T ENST00000358511.6 + 34 6178 c.6147C>T c.(6145-6147)caC>caT p.H2049H COL6A6_ENST00000453409.2_Silent_p.H2049H NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 2049 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GGCATGTGCACGAGTCAGTTA 0.443000 25 15 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23722243 23722243 + Silent SNP G G A rs34887159 TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:23722243G>A ENST00000256797.4 - 2 502 c.334C>T c.(334-336)Ctg>Ttg p.L112L ERN2_ENST00000457008.2_Silent_p.L64L NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 64 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CCATCCCTCAGAGTCCACTTC 0.547000 11 29 0 0 1 0 0 OR14I1 401994 broad.mit.edu 37 1 248845527 248845527 + Missense_Mutation SNP C C T rs147758863 byFrequency TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:248845527C>T ENST00000342623.3 - 1 102 c.79G>A c.(79-81)Ggg>Agg p.G27R NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 AGAAACAGCCCGGCGTGCAGC 0.493000 20 0 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58357781 58357781 + Missense_Mutation SNP A A C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr15:58357781A>C ENST00000249750.4 - 1 835 c.68T>G c.(67-69)cTg>cGg p.L23R ALDH1A2_ENST00000347587.3_Missense_Mutation_p.L23R|ALDH1A2_ENST00000537372.1_5'UTR|CTD-2330J20.2_ENST00000559684.1_RNA|ALDH1A2_ENST00000558231.1_Intron NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 23 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CAGGAGGTGCAGCGACGCCAT 0.652000 7 9 0 0 1 0 0 ZNF671 79891 broad.mit.edu 37 19 58231969 58231969 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:58231969G>C ENST00000317398.6 - 4 1580 c.1485C>G c.(1483-1485)atC>atG p.I495M AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.I397M NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 495 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCCAGTGCCTGATGAGGTTGG 0.502000 26 110 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47172540 47172540 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:47172540T>C ENST00000447411.1 - 10 943 c.737A>G c.(736-738)cAa>cGa p.Q246R SLC38A4_ENST00000266579.4_Missense_Mutation_p.Q246R NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 246 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) GCAGGGTATTTGGAATTTCTT 0.358000 25 21 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219555247 219555247 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:219555247C>G ENST00000295709.3 + 14 2012 c.1733C>G c.(1732-1734)tCt>tGt p.S578C STK36_ENST00000392105.3_Missense_Mutation_p.S578C|STK36_ENST00000392106.2_Missense_Mutation_p.S578C|STK36_ENST00000440309.1_Missense_Mutation_p.S578C NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 578 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CCAGATGACTCTGAGCAGACT 0.522000 25 2 0 0 1 0 0 CRTC2 200186 broad.mit.edu 37 1 153924503 153924503 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:153924503C>G ENST00000368633.1 - 10 1115 c.988G>C c.(988-990)Gat>Cat p.D330H CRTC2_ENST00000368630.3_Intron NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 330 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CCTGGTGCATCATAGCCTGGG 0.602000 10 46 0 0 1 0 0 GALNT11 63917 broad.mit.edu 37 7 151818672 151818672 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:151818672G>A ENST00000434507.1 + 14 2174 c.1737G>A c.(1735-1737)ctG>ctA p.L579L GALNT11_ENST00000430044.2_Silent_p.L579L|GALNT11_ENST00000320311.2_Silent_p.L579L|RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000452146.2_Silent_p.L498L Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 579 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) GACAGTGCCTGAGAGCAGTGG 0.488000 14 32 0 0 1 0 0 C9orf106 414318 broad.mit.edu 37 9 132084729 132084729 + RNA SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:132084729C>G ENST00000316786.1 + 0 690 Q8NAJ2 CI106_HUMAN chromosome 9 open reading frame 106 large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 Ovarian(14;0.00556)|Medulloblastoma(224;0.235) GTTCCCAGTTCTGCCTGTCCA 0.562000 7 24 0 0 1 0 0 HFE2 148738 broad.mit.edu 37 1 145416912 145416912 + Silent SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:145416912T>C ENST00000336751.5 + 4 1495 c.1257T>C c.(1255-1257)ttT>ttC p.F419F HFE2_ENST00000497365.1_Silent_p.F193F|HFE2_ENST00000475797.1_Silent_p.F193F|HFE2_ENST00000357836.5_Silent_p.F306F NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 419 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTGGGCTCTTTGTTCTGTGGC 0.463000 22 65 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16760787 16760787 + Nonsense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:16760787G>A ENST00000502640.1 - 2 377 c.229C>T c.(229-231)Cga>Tga p.R77* LDB2_ENST00000515064.1_Nonsense_Mutation_p.R77*|LDB2_ENST00000304523.5_Nonsense_Mutation_p.R77*|LDB2_ENST00000441778.2_Nonsense_Mutation_p.R77* O43679 LDB2_HUMAN LIM domain binding 2 77 LIM domain binding|transcription cofactor activity p.R77*(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 TTACTGTATCGCTTTGGTCCA 0.428000 20 2 0 0 1 0 0 SLC7A10 56301 broad.mit.edu 37 19 33700256 33700256 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:33700256C>G ENST00000253188.4 - 10 1545 c.1399G>C c.(1399-1401)Gtg>Ctg p.V467L NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) CTCCAGAACACTCCCAGAAAG 0.597000 14 42 0 0 1 0 0 FAM184A 79632 broad.mit.edu 37 6 119288118 119288118 + Splice_Site SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:119288118C>T ENST00000338891.7 - 15 3359 c.e15-1 FAM184A_ENST00000521531.1_Splice_Site|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Splice_Site|FAM184A_ENST00000368475.4_Splice_Site NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TTCTTCTAATCTGAAAACAAG 0.303000 23 19 0 0 1 0 0 C9orf84 158401 broad.mit.edu 37 9 114489959 114489959 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:114489959C>A ENST00000394779.3 - 9 1723 c.1479G>T c.(1477-1479)aaG>aaT p.K493N C9orf84_ENST00000374287.3_Missense_Mutation_p.K532N|C9orf84_ENST00000394777.4_Missense_Mutation_p.K493N|C9orf84_ENST00000318737.4_Missense_Mutation_p.K532N NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 532 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 AGGTGCAAGTCTTATATTTAT 0.328000 14 59 4.36969e-10 4.72e-10 1 1 0 PRAM1 84106 broad.mit.edu 37 19 8564610 8564610 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:8564610C>G ENST00000423345.4 - 2 602 c.82G>C c.(82-84)Gag>Cag p.E28Q PRAM1_ENST00000255612.3_Missense_Mutation_p.E28Q Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 28 Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 TCGCTGGGCTCCGGCTGAGAG 0.572000 5 17 0 0 1 0 0 HMGB1 3146 broad.mit.edu 37 13 31036814 31036814 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr13:31036814G>A ENST00000405805.1 - 4 1272 c.332C>T c.(331-333)cCa>cTa p.P111L HMGB1_ENST00000399494.1_Missense_Mutation_p.P111L|HMGB1_ENST00000326004.4_Missense_Mutation_p.P111L|HMGB1_ENST00000341423.5_Missense_Mutation_p.P111L|HMGB1_ENST00000399489.1_Missense_Mutation_p.P111L|HMGB1_ENST00000339872.4_Missense_Mutation_p.P111L P09429 HMGB1_HUMAN high mobility group box 1 111 base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1) 8 Lung SC(185;0.0257) all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232) TTTGATTTTTGGGCGATACTC 0.388000 6 58 0 0 1 0 0 CLN8 2055 broad.mit.edu 37 8 1728491 1728491 + Silent SNP C C T rs151334741 TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr8:1728491C>T ENST00000331222.4 + 3 866 c.619C>T c.(619-621)Cta>Tta p.L207L CLN8_ENST00000523237.1_3'UTR NM_018941.3 NP_061764.2 Q9UBY8 CLN8_HUMAN ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 207 TLC. cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831) BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913) CCGCATGGTTCTAACCTACCA 0.537000 13 34 0 0 1 0 0 SUPT20H 55578 broad.mit.edu 37 13 37596284 37596284 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr13:37596284A>G ENST00000475892.1 - 20 1945 c.1762T>C c.(1762-1764)Tct>Cct p.S588P SUPT20H_ENST00000464744.1_Intron|SUPT20H_ENST00000360252.4_Intron|SUPT20H_ENST00000350612.6_Intron|SUPT20H_ENST00000356185.3_Intron NM_001278480.1 NP_001265409.1 suppressor of Ty 20 homolog (S. cerevisiae) TGGCTCAGAGACCTTTGCTGC 0.527000 7 15 0 0 1 0 0 TTF1 7270 broad.mit.edu 37 9 135277344 135277344 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:135277344C>T ENST00000334270.2 - 2 904 c.865G>A c.(865-867)Gag>Aag p.E289K NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 289 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) GCCAATGCCTCAAATTCCTGG 0.478000 51 177 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31323114 31323114 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:31323114A>G ENST00000265071.2 + 12 2337 c.2072A>G c.(2071-2073)gAc>gGc p.D691G NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 691 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTACGAAGGGACATTGTGCCC 0.498000 23 22 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26164501 26164501 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr22:26164501C>G ENST00000335473.7 + 4 868 c.618C>G c.(616-618)acC>acG p.T206T MYO18B_ENST00000407587.2_Silent_p.T206T|MYO18B_ENST00000536101.1_Silent_p.T206T NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 206 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AGGCCAGCACCGAGATCTTGG 0.597000 6 14 0 0 1 0 0 RPLP2 6181 broad.mit.edu 37 11 810271 810271 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:810271G>A ENST00000321153.4 + 2 431 c.37G>A c.(37-39)Ggg>Agg p.G13R RPLP2_ENST00000532004.1_Intron|RPLP2_ENST00000530797.1_Missense_Mutation_p.G13R NM_001004.3 NP_000995.1 P05387 RLA2_HUMAN ribosomal protein, large, P2 13 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome lung(1) 1 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGCTGCCCTAGGGGGCAACTC 0.687000 4 0 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71267452 71267452 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr14:71267452C>G ENST00000554752.2 - 2 751 c.752G>C c.(751-753)aGa>aCa p.R251T MAP3K9_ENST00000555993.2_Missense_Mutation_p.R251T|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R251T NM_001284230.1 NP_001271159.1 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 251 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GTTCATCCCTCTGGCAATCTG 0.502000 23 51 0 0 1 0 0 ARL8B 55207 broad.mit.edu 37 3 5212250 5212250 + Missense_Mutation SNP A A T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:5212250A>T ENST00000256496.3 + 2 432 c.186A>T c.(184-186)aaA>aaT p.K62N ARL8B_ENST00000419534.2_Missense_Mutation_p.K62N|AC026202.3_ENST00000439325.1_RNA|ARL8B_ENST00000468010.1_3'UTR NM_018184.2 NP_060654.1 Q9NVJ2 ARL8B_HUMAN ADP-ribosylation factor-like 8B 62 cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction late endosome membrane|lysosomal membrane|midbody|spindle midzone alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777) AGGTAACTAAAGGTAACGTCA 0.353000 4 19 0 0 1 0 0 GALNT8 26290 broad.mit.edu 37 12 4854667 4854667 + Silent SNP T T G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:4854667T>G ENST00000252318.2 + 5 1270 c.933T>G c.(931-933)cgT>cgG p.R311R NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 311 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 ACAACATTCGTTTTGACACCT 0.498000 6 53 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 26107941 26107941 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr15:26107941C>T ENST00000356865.6 - 1 414 c.303G>A c.(301-303)ccG>ccA p.P101P NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 101 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CGTTCACCGCCGGCACGAAGT 0.637000 5 5 0 0 1 0 0 GPAM 57678 broad.mit.edu 37 10 113941514 113941514 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:113941514G>A ENST00000348367.4 - 3 226 c.29C>T c.(28-30)aCa>aTa p.T10I GPAM_ENST00000369425.1_Missense_Mutation_p.T10I|GPAM_ENST00000480130.1_5'UTR|GPAM_ENST00000423155.1_Missense_Mutation_p.T10I Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 10 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) AACATCTATTGTACCAAGGGT 0.368000 8 39 0 0 1 0 0 FOXR2 139628 broad.mit.edu 37 X 55651072 55651072 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chrX:55651072G>C ENST00000339140.3 + 1 1240 c.928G>C c.(928-930)Gat>Cat p.D310H NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 310 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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 biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 CTCTCTCTTTGATCTTTGAAA 0.478000 6 2 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24196436 24196436 + Missense_Mutation SNP T T A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:24196436T>A ENST00000303531.7 + 14 1690 c.1538T>A c.(1537-1539)aTt>aAt p.I513N PRKCB_ENST00000321728.7_Missense_Mutation_p.I513N NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 513 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) TTCTAGATAATTGCTTATCAG 0.448000 30 18 0 0 1 0 0 BACE2 25825 broad.mit.edu 37 21 42629234 42629234 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr21:42629234C>T ENST00000347667.5 + 7 1597 c.1134C>T c.(1132-1134)ttC>ttT p.F378F BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000330333.6_Silent_p.F428F|BACE2_ENST00000328735.6_Intron NM_138991.1 NP_620476.1 Q9Y5Z0 BACE2_HUMAN beta-site APP-cleaving enzyme 2 membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Prostate(19;1.57e-07)|all_epithelial(19;0.0251) GGGTGGGCTTCGCAGCGAGCC 0.547000 5 36 0 0 1 0 0 DCPS 28960 broad.mit.edu 37 11 126215400 126215400 + Missense_Mutation SNP C C G rs148207687 byFrequency TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:126215400C>G ENST00000263579.4 + 6 1235 c.906C>G c.(904-906)atC>atG p.I302M DCPS_ENST00000530860.1_3'UTR NM_014026.3 NP_054745.1 Q96C86 DCPS_HUMAN decapping enzyme, scavenger 302 deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus exoribonuclease activity|protein binding endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08) CTGAGGTGATCGAGAACTTGG 0.657000 16 40 0 0 1 0 0 ERCC3 2071 broad.mit.edu 37 2 128029015 128029015 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:128029015C>T ENST00000493187.2 - 12 2113 c.1650G>A c.(1648-1650)tcG>tcA p.S550S ERCC3_ENST00000285398.2_Silent_p.S614S P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 614 Helicase C-terminal. cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) GCAGATCAAACGAAGTGTCAC 0.423000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 18 65 0 0 1 0 0 IL27 246778 broad.mit.edu 37 16 28513303 28513303 + Silent SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:28513303G>C ENST00000356897.1 - 4 478 c.456C>G c.(454-456)cgC>cgG p.R152R NM_145659.3 NP_663634.2 Q8NEV9 IL27A_HUMAN interleukin 27 152 inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation extracellular space cytokine activity|interleukin-27 receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 10 CTACCTGGAAGCGGAGGTGCC 0.642000 15 30 0 0 1 0 0 C19orf53 28974 broad.mit.edu 37 19 13885491 13885491 + Silent SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:13885491G>T ENST00000588234.1 + 2 433 c.123G>T c.(121-123)gcG>gcT p.A41A NM_014047.2 NP_054766.1 Q9UNZ5 L10K_HUMAN chromosome 19 open reading frame 53 41 breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19) CCAAGAAGGCGCGCGTCGTGC 0.682000 31 41 5.8336e-16 6.44634e-16 1 1 0 SHMT2 6472 broad.mit.edu 37 12 57627603 57627603 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:57627603G>A ENST00000328923.3 + 10 1647 c.1195G>A c.(1195-1197)Gtg>Atg p.V399M SHMT2_ENST00000414700.3_Missense_Mutation_p.V378M|SHMT2_ENST00000553474.1_Missense_Mutation_p.V378M|SHMT2_ENST00000557487.1_Missense_Mutation_p.V389M|SHMT2_ENST00000393827.4_Missense_Mutation_p.V303M|SHMT2_ENST00000449049.3_Missense_Mutation_p.V378M NM_001166356.1|NM_005412.5 NP_001159828.1|NP_005403.2 P34897 GLYM_HUMAN serine hydroxymethyltransferase 2 (mitochondrial) 399 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) GGCTGAGCGGGTGCTAGAGCT 0.607000 13 23 0 0 1 0 0 IMPA2 3613 broad.mit.edu 37 18 12014353 12014353 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr18:12014353C>T ENST00000269159.3 + 5 713 c.471C>T c.(469-471)ctC>ctT p.L157L IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588927.1_5'UTR NM_014214.2 NP_055029.1 O14732 IMPA2_HUMAN inositol(myo)-1(or 4)-monophosphatase 2 157 inositol phosphate dephosphorylation|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1) 12 Lithium(DB01356) GCCAGCGGCTCCGGGTCTCCG 0.587000 11 6 0 0 1 0 0 PCID2 55795 broad.mit.edu 37 13 113862925 113862925 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr13:113862925C>T ENST00000337344.4 - 1 100 c.24G>A c.(22-24)caG>caA p.Q8Q PCID2_ENST00000246505.5_Silent_p.Q8Q|CUL4A_ENST00000375441.3_Intron|PCID2_ENST00000375479.2_Silent_p.Q8Q|PCID2_ENST00000375457.2_5'UTR|PCID2_ENST00000375477.1_Silent_p.Q8Q NM_001127202.2 NP_001120674.1 Q5JVF3 PCID2_HUMAN PCI domain containing 2 8 negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10) 20 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) GCTGCAGGTACTGGTTAATGG 0.692000 3 18 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219557993 219557993 + Nonsense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:219557993G>T ENST00000295709.3 + 17 2353 c.2074G>T c.(2074-2076)Gaa>Taa p.E692* STK36_ENST00000392105.3_Nonsense_Mutation_p.E692*|STK36_ENST00000392106.2_Nonsense_Mutation_p.E692*|STK36_ENST00000440309.1_Nonsense_Mutation_p.E692* NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 692 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) TCAGCTAACTGAAGACAGCAG 0.488000 26 4 2.44723e-14 2.6888e-14 1 1 0 DCUN1D2 55208 broad.mit.edu 37 13 114134912 114134912 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr13:114134912G>C ENST00000478244.1 - 3 649 c.367C>G c.(367-369)Cta>Gta p.L123V DCUN1D2_ENST00000460318.1_5'UTR|DCUN1D2_ENST00000332592.3_Intron|DCUN1D2_ENST00000375399.2_Missense_Mutation_p.L123V NM_001014283.1 NP_001014305.1 Q6PH85 DCNL2_HUMAN DCN1, defective in cullin neddylation 1, domain containing 2 123 DCUN1. breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1) 7 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234) ATGCCATCTAGAAATTCCTTT 0.383000 21 116 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8517968 8517968 + Nonsense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:8517968G>A ENST00000381196.4 - 18 1966 c.1423C>T c.(1423-1425)Caa>Taa p.Q475* PTPRD_ENST00000540109.1_Nonsense_Mutation_p.Q475*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.Q475*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.Q472*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.Q472*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.Q462*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.Q462*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.Q475*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.Q475*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.Q465*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.Q465* NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 475 Fibronectin type-III 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GTAGTGATTTGGCTGTCAGCT 0.408000 TSP Lung(15;0.13) 58 8 0 0 1 0 0 PPP5C 5536 broad.mit.edu 37 19 46890381 46890381 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:46890381C>G ENST00000012443.4 + 8 1039 c.936C>G c.(934-936)atC>atG p.I312M PPP5C_ENST00000391919.1_Missense_Mutation_p.I184M NM_006247.3 NP_006238.1 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 312 Catalytic. mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1) 18 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) TGAACCAGATCTACGGTTTCG 0.572000 3 17 0 0 1 0 0 HSPA5 3309 broad.mit.edu 37 9 127999332 127999332 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:127999332C>G ENST00000324460.6 - 8 1707 c.1504G>C c.(1504-1506)Gag>Cag p.E502Q NM_005347.4 NP_005338.1 P11021 GRP78_HUMAN heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 502 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1) 23 Antihemophilic Factor(DB00025) ACATCTATCTCAAAGGTGACT 0.453000 Prostate(1;0.17) 53 21 0 0 1 0 0 OSM 5008 broad.mit.edu 37 22 30660098 30660098 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr22:30660098G>A ENST00000215781.2 - 3 573 c.533C>T c.(532-534)cCc>cTc p.P178L OSM_ENST00000403463.1_3'UTR|OSM_ENST00000403389.1_Missense_Mutation_p.P157L NM_020530.4 NP_065391.1 P13725 ONCM_HUMAN oncostatin M 178 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3) 11 Epithelial(10;0.206) GGCAGGGGTGGGGGTGGGCGG 0.642000 12 24 0 0 1 0 0 IRAK4 51135 broad.mit.edu 37 12 44166092 44166092 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:44166092G>C ENST00000431837.1 + 3 353 c.45G>C c.(43-45)caG>caC p.Q15H IRAK4_ENST00000448290.2_Missense_Mutation_p.Q139H|IRAK4_ENST00000551736.1_Missense_Mutation_p.Q139H|IRAK4_ENST00000440781.2_Missense_Mutation_p.Q15H NM_001145256.1|NM_001145257.1 NP_001138728.1|NP_001138729.1 Q9NWZ3 IRAK4_HUMAN interleukin-1 receptor-associated kinase 4 139 innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) CACCTGTGCAGAATCTTGAAC 0.383000 27 36 0 0 1 0 0 ENTHD1 150350 broad.mit.edu 37 22 40139944 40139944 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr22:40139944C>G ENST00000325157.6 - 7 1814 c.1564G>C c.(1564-1566)Gac>Cac p.D522H NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 522 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) ATGAACTGGTCTACATTTTGG 0.413000 11 63 0 0 1 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82366763 82366763 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:82366763C>T ENST00000509081.1 - 8 1063 c.842G>A c.(841-843)cGa>cAa p.R281Q RASGEF1B_ENST00000335927.7_Missense_Mutation_p.R240Q|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.R282Q Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 282 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 26 CATTCTTGCTCGGTGTTTTTT 0.373000 21 49 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52805814 52805814 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:52805814G>A ENST00000287727.3 + 17 4022 c.3850G>A c.(3850-3852)Gat>Aat p.D1284N ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D1225N|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.D1284N O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 1284 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 AAGTCCTATAGATGGGAAGTC 0.373000 14 56 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92085300 92085300 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:92085300T>C ENST00000298047.6 + 1 39 c.22T>C c.(22-24)Tgt>Cgt p.C8R FAT3_ENST00000409404.2_Missense_Mutation_p.C8R|FAT3_ENST00000541502.1_Missense_Mutation_p.C8R Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 8 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TATGGGACACTGTGTGGGCAC 0.512000 TCGA Ovarian(4;0.039) 8 18 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41340453 41340453 + Silent SNP T T A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr15:41340453T>A ENST00000361937.3 - 22 3022 c.2598A>T c.(2596-2598)ccA>ccT p.P866P INO80_ENST00000401393.3_Silent_p.P866P Q9ULG1 INO80_HUMAN INO80 complex subunit 866 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 CTGGTGCAAATGGAGAAAGAA 0.383000 23 28 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48270389 48270389 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:48270389C>G ENST00000225964.5 - 26 1905 c.1787G>C c.(1786-1788)gGa>gCa p.G596A NM_000088.3 NP_000079 P02452 CO1A1_HUMAN collagen, type I, alpha 1 596 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) ACCTCGCTCTCCAGCCTTGCC 0.612000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 7 4 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185731105 185731105 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:185731105G>A ENST00000302277.6 + 2 715 c.121G>A c.(121-123)Gag>Aag p.E41K NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 41 intracellular zinc ion binding p.E41Q(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GGACTATGCTGAGAAGGAAAA 0.358000 10 9 0 0 1 0 0 ZNF684 127396 broad.mit.edu 37 1 41012779 41012779 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:41012779G>T ENST00000372699.3 + 5 1035 c.784G>T c.(784-786)Gtg>Ttg p.V262L ZNF684_ENST00000493756.1_3'UTR NM_152373.3 NP_689586.3 Q5T5D7 ZN684_HUMAN zinc finger protein 684 262 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) TAATCAACACGTGAAATCTCA 0.408000 9 37 3.09899e-07 3.30558e-07 1 1 0 PCDH10 57575 broad.mit.edu 37 4 134073497 134073497 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:134073497C>T ENST00000264360.5 + 1 3028 c.2202C>T c.(2200-2202)atC>atT p.I734I NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) TGGCCATGATCGTGCTGGCCG 0.597000 12 45 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169519039 169519039 + Splice_Site SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:169519039C>G ENST00000367796.3 - 10 1812 c.1611G>C c.(1609-1611)caG>caC p.Q537H F5_ENST00000546081.1_3'UTR|F5_ENST00000367797.3_Splice_Site_p.Q537H P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 537 F5/8 type A 2.|Plastocyanin-like 4. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GACAAAATACCTGTATTCCTT 0.428000 4 26 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43323880 43323880 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:43323880C>G ENST00000361428.2 - 4 1269 c.1192G>C c.(1192-1194)Gag>Cag p.E398Q ZNF318_ENST00000318149.3_Missense_Mutation_p.E398Q NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 398 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GAAAAACTCTCAAGCTGCAAA 0.423000 7 30 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24411103 24411103 + Nonsense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:24411103G>A ENST00000330966.7 - 16 1990 c.1828C>T c.(1828-1830)Caa>Taa p.Q610* MYOM3_ENST00000329601.7_Nonsense_Mutation_p.Q609*|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Nonsense_Mutation_p.Q609*|MYOM3_ENST00000475306.1_5'UTR Q5VTT5 MYOM3_HUMAN myomesin 3 609 Fibronectin type-III 3. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CTGAAAGCTTGAACTTGAGCT 0.527000 35 75 0 0 1 0 0 SLC25A16 8034 broad.mit.edu 37 10 70252893 70252893 + Nonsense_Mutation SNP A A C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:70252893A>C ENST00000609923.1 - 6 704 c.606T>G c.(604-606)taT>taG p.Y202* SLC25A16_ENST00000539557.1_Nonsense_Mutation_p.Y104*|SLC25A16_ENST00000265870.3_5'UTR NM_152707.3 NP_689920.1 P16260 GDC_HUMAN solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 coenzyme biosynthetic process|pantothenate metabolic process integral to membrane|mitochondrial inner membrane binding|solute:solute antiporter activity endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 7 ACATACCTGCATATGGAGCCA 0.313000 18 49 0 0 1 0 0 GOLGA5 9950 broad.mit.edu 37 14 93278101 93278101 + Splice_Site SNP T T G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr14:93278101T>G ENST00000163416.2 + 6 1576 c.e6+2 GOLGA5_ENST00000355976.2_Splice_Site NM_005113.2 NP_005104 Q8TBA6 GOGA5_HUMAN golgin A5 Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding large_intestine(6)|lung(1)|ovary(2) 9 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) ATACTGCAAGTAAGCATGAAA 0.388000 T RET papillary thyroid 10 18 0 0 1 0 0 QKI 9444 broad.mit.edu 37 6 163899810 163899810 + Splice_Site SNP A A C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:163899810A>C ENST00000361752.3 + 3 836 c.e3-1 QKI_ENST00000275262.7_Splice_Site|QKI_ENST00000392127.2_Splice_Site|QKI_ENST00000361195.2_Splice_Site|QKI_ENST00000453779.2_Splice_Site|QKI_ENST00000424802.3_Splice_Site NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2 NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1 Q96PU8 QKI_HUMAN QKI, KH domain containing, RNA binding mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) TTTTTTTCTCAGTTTAATTTT 0.348000 17 34 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32620829 32620829 + Silent SNP C C A rs147158293 TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr8:32620829C>A ENST00000521670.1 + 12 1470 c.1362C>A c.(1360-1362)tcC>tcA p.S454S NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000405005.3_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287845.5_Intron NM_013960.3 NP_039254.1 Q02297 NRG1_HUMAN neuregulin 1 0 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GATCTTCTTCCATTCCCCATT 0.428000 18 56 1.56452e-12 1.71162e-12 1 1 0 ZMYND15 84225 broad.mit.edu 37 17 4644988 4644988 + Nonsense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:4644988C>G ENST00000433935.1 + 3 761 c.704C>G c.(703-705)tCa>tGa p.S235* ZMYND15_ENST00000269289.6_Nonsense_Mutation_p.S235*|ZMYND15_ENST00000573751.2_Nonsense_Mutation_p.S235*|ZMYND15_ENST00000592813.1_Nonsense_Mutation_p.S235* NM_001136046.2|NM_001267822.1 NP_001129518.1|NP_001254751.1 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 235 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 AGCTGGGGCTCAGGGACCAAG 0.592000 78 9 0 0 1 0 0 TFB2M 64216 broad.mit.edu 37 1 246727686 246727686 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:246727686C>T ENST00000366514.4 - 2 549 c.364G>A c.(364-366)Gcg>Acg p.A122T TFB2M_ENST00000544618.1_Missense_Mutation_p.A122T NM_022366.2 NP_071761.1 Q9H5Q4 TFB2M_HUMAN transcription factor B2, mitochondrial 122 positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter mitochondrial nucleoid protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376) OV - Ovarian serous cystadenocarcinoma(106;0.00358) CTTTCGAGCGCAACCACTTTG 0.378000 34 5 0 0 1 0 0 TXNDC5 81567 broad.mit.edu 37 6 7891956 7891956 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:7891956G>C ENST00000539054.1 - 5 413 c.414C>G c.(412-414)atC>atG p.I138M BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000473453.1_Missense_Mutation_p.I102M|TXNDC5_ENST00000379757.4_Missense_Mutation_p.I210M Q8NBS9 TXND5_HUMAN thioredoxin domain containing 5 (endoplasmic reticulum) Thioredoxin 1. anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport endoplasmic reticulum lumen|lysosomal lumen electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2) 22 Ovarian(93;0.0398) CGAAGAACTTGATAAAGTGGT 0.512000 10 20 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101983780 101983780 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr15:101983780A>G ENST00000348070.1 - 3 379 c.380T>C c.(379-381)tTc>tCc p.F127S PCSK6_ENST00000358417.3_Missense_Mutation_p.F127S|PCSK6_ENST00000344273.2_Missense_Mutation_p.F127S|PCSK6_ENST00000398181.2_Missense_Mutation_p.F127S|PCSK6_ENST00000561177.1_5'UTR NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 128 glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CATTCTGAGGAAGGTGTGAGG 0.458000 14 32 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119109398 119109398 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:119109398C>G ENST00000328252.3 + 15 4243 c.3874C>G c.(3874-3876)Caa>Gaa p.Q1292E PAPPA_ENST00000534838.1_Missense_Mutation_p.Q330E NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1292 Sushi 2. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 AGATCACCATCAAGTCTATGC 0.547000 18 8 0 0 1 0 0 GNPDA2 132789 broad.mit.edu 37 4 44724165 44724165 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:44724165G>A ENST00000509756.1 - 2 166 c.60C>T c.(58-60)atC>atT p.I20I GNPDA2_ENST00000507534.1_Intron|GNPDA2_ENST00000507917.1_Silent_p.I20I|GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000295448.3_Silent_p.I20I Q8TDQ7 GNPI2_HUMAN glucosamine-6-phosphate deaminase 2 20 N-acetylglucosamine metabolic process cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity endometrium(2)|large_intestine(1)|lung(7)|ovary(1) 11 TGCGATTACAGATGTATTTGG 0.383000 13 23 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91742594 91742594 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:91742594C>G ENST00000370425.3 - 31 3515 c.3417G>C c.(3415-3417)ggG>ggC p.G1139G HFM1_ENST00000370424.3_Silent_p.G818G|HFM1_ENST00000294696.5_Silent_p.G371G|HFM1_ENST00000462405.1_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 1139 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) ATTCTCGGTTCCCAGGTTTTT 0.274000 28 129 0 0 1 0 0 TFDP2 7029 broad.mit.edu 37 3 141688984 141688984 + Splice_Site SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:141688984C>T ENST00000499676.2 - 9 1155 c.e9-1 TFDP2_ENST00000489671.1_Splice_Site|TFDP2_ENST00000397991.4_Splice_Site|TFDP2_ENST00000317104.7_Splice_Site|TFDP2_ENST00000477292.1_Splice_Site|TFDP2_ENST00000486111.1_Splice_Site|TFDP2_ENST00000467072.1_Splice_Site|TFDP2_ENST00000310282.6_Splice_Site|TFDP2_ENST00000479040.1_Splice_Site|TFDP2_ENST00000495310.1_Splice_Site NM_001178139.1 NP_001171610.1 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization partner 2) cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding kidney(1)|upper_aerodigestive_tract(2) 3 GCTTCTCTATCTTTAAAACAT 0.388000 20 60 0 0 1 0 0 C20orf194 25943 broad.mit.edu 37 20 3312960 3312960 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr20:3312960A>G ENST00000252032.9 - 11 1097 c.1030T>C c.(1030-1032)Tac>Cac p.Y344H C20orf194_ENST00000453730.2_Missense_Mutation_p.Y83H NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 344 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 CCAAAAAAGTATGTTCTCGAA 0.393000 13 25 0 0 1 0 0 C12orf43 64897 broad.mit.edu 37 12 121454196 121454196 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:121454196C>T ENST00000288757.3 - 1 104 c.82G>A c.(82-84)Gag>Aag p.E28K C12orf43_ENST00000445832.3_5'UTR|C12orf43_ENST00000366211.2_5'UTR|C12orf43_ENST00000537817.1_5'UTR|C12orf43_ENST00000539736.1_Missense_Mutation_p.E28K|C12orf43_ENST00000536407.2_Missense_Mutation_p.E28K NM_022895.1 NP_075046.1 Q96C57 CL043_HUMAN chromosome 12 open reading frame 43 28 p.E28Q(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ATTGCCGCCTCGCGGCACCGC 0.637000 32 9 0 0 1 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26898056 26898056 + Silent SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:26898056G>T ENST00000374168.2 + 18 1861 c.1707G>T c.(1705-1707)ggG>ggT p.G569G RPS6KA1_ENST00000526792.1_Silent_p.G477G|RPS6KA1_ENST00000374166.4_Silent_p.G558G|RPS6KA1_ENST00000374162.2_Silent_p.G477G|RPS6KA1_ENST00000531382.1_Silent_p.G578G|RPS6KA1_ENST00000530003.1_Silent_p.G553G NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 569 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) CTGAGAATGGGCTCCTCATGA 0.572000 11 8 0.000978159 0.00100431 1 1 0 PRKG1 5592 broad.mit.edu 37 10 54048513 54048513 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:54048513G>A ENST00000373980.4 + 15 2154 c.1737G>A c.(1735-1737)atG>atA p.M579I PRKG1_ENST00000401604.2_Missense_Mutation_p.M564I|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.M282I|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.M552I NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 564 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) CAGATCCTATGAAAACCTATA 0.353000 42 35 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43783296 43783296 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:43783296G>T ENST00000372476.3 + 16 2761 c.2682G>T c.(2680-2682)ttG>ttT p.L894F TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.L539F NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 894 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGTGCAAATTGGGGCATCACC 0.493000 91 37 1.29119e-40 1.46258e-40 1 1 0 GALNT8 26290 broad.mit.edu 37 12 4872491 4872491 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:4872491G>C ENST00000252318.2 + 8 1769 c.1432G>C c.(1432-1434)Gac>Cac p.D478H NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 478 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 TAAAACTTTTGACTGGTACCT 0.378000 21 41 0 0 1 0 0 SLC35D1 23169 broad.mit.edu 37 1 67518664 67518664 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:67518664G>A ENST00000235345.5 - 2 297 c.212C>T c.(211-213)tCc>tTc p.S71F SLC35D1_ENST00000506472.2_5'UTR NM_015139.2 NP_055954.1 Q9NTN3 S35D1_HUMAN solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1 71 chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process integral to endoplasmic reticulum membrane UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(3)|lung(4) 10 Lorazepam(DB00186) ACATAGTGAGGAGGGAAATCT 0.398000 20 18 0 0 1 0 0 CACNG4 27092 broad.mit.edu 37 17 65026770 65026770 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:65026770G>C ENST00000262138.3 + 4 636 c.634G>C c.(634-636)Gag>Cag p.E212Q NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 212 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) GAAAAATAAAGAGTTGAGGTT 0.488000 10 57 0 0 1 0 0 PDE4A 5141 broad.mit.edu 37 19 10568572 10568572 + Nonsense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:10568572G>T ENST00000380702.2 + 9 829 c.829G>T c.(829-831)Gag>Tag p.E277* PDE4A_ENST00000344979.3_Nonsense_Mutation_p.E60*|PDE4A_ENST00000440014.2_Nonsense_Mutation_p.E238*|PDE4A_ENST00000352831.6_Nonsense_Mutation_p.E299*|PDE4A_ENST00000293683.5_Nonsense_Mutation_p.E273*|PDE4A_ENST00000592685.1_Nonsense_Mutation_p.E277* P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 299 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) GAATGAAGTGGAGATCCCATC 0.567000 11 30 9.31168e-06 9.66401e-06 1 1 0 MALAT1 378938 broad.mit.edu 37 11 65268252 65268252 + RNA SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:65268252C>T ENST00000534336.1 + 0 3020 NR_002819.2 TCCGTGAGGTCGGCAATATGT 0.453000 5 29 0 0 1 0 0 ANXA13 312 broad.mit.edu 37 8 124710782 124710782 + Silent SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr8:124710782G>C ENST00000262219.6 - 5 394 c.327C>G c.(325-327)ctC>ctG p.L109L ANXA13_ENST00000419625.1_Silent_p.L68L NM_001003954.1 NP_001003954.1 P27216 ANX13_HUMAN annexin A13 68 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) GCTCACTCTTGAGTACTTCCT 0.582000 29 60 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67331439 67331439 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:67331439C>G ENST00000304372.5 - 7 1169 c.1114G>C c.(1114-1116)Gag>Cag p.E372Q NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 372 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GTCCTTGGCTCCAGATGAGTC 0.473000 12 42 0 0 1 0 0 MTMR2 8898 broad.mit.edu 37 11 95583871 95583871 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:95583871G>C ENST00000393223.3 - 10 1143 c.481C>G c.(481-483)Cga>Gga p.R161G MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000346299.5_Missense_Mutation_p.R233G|MTMR2_ENST00000409459.1_Missense_Mutation_p.R161G|MTMR2_ENST00000352297.7_Missense_Mutation_p.R161G NM_001243571.1|NM_201278.2 NP_001230500.1|NP_958435.1 Q13614 MTMR2_HUMAN myotubularin related protein 2 233 nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AGTTCATATCGTTCATTTATC 0.363000 19 65 0 0 1 0 0 VWA9 81556 broad.mit.edu 37 15 65897516 65897516 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr15:65897516C>T ENST00000395644.4 - 3 616 c.281G>A c.(280-282)gGt>gAt p.G94D VWA9_ENST00000431261.2_Missense_Mutation_p.G15D|VWA9_ENST00000569491.1_Missense_Mutation_p.G45D|VWA9_ENST00000442903.3_Intron|VWA9_ENST00000420799.2_Missense_Mutation_p.G37D|VWA9_ENST00000313182.2_Missense_Mutation_p.G94D|VWA9_ENST00000567744.1_Missense_Mutation_p.G130D von Willebrand factor A domain containing 9 ATTGCAAACACCAACTAATGC 0.353000 33 56 0 0 1 0 0 SYBU 55638 broad.mit.edu 37 8 110590241 110590241 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr8:110590241G>C ENST00000399066.3 - 5 1458 c.731C>G c.(730-732)tCt>tGt p.S244C SYBU_ENST00000533171.1_Missense_Mutation_p.S247C|SYBU_ENST00000419099.1_Missense_Mutation_p.S246C|SYBU_ENST00000276646.9_Missense_Mutation_p.S247C|SYBU_ENST00000408889.3_Missense_Mutation_p.S128C|SYBU_ENST00000532779.1_Missense_Mutation_p.S179C|SYBU_ENST00000529175.1_Missense_Mutation_p.S41C|SYBU_ENST00000528647.1_Missense_Mutation_p.S246C|SYBU_ENST00000422135.1_Missense_Mutation_p.S247C|SYBU_ENST00000533065.1_Missense_Mutation_p.S128C|SYBU_ENST00000529690.1_Missense_Mutation_p.S117C|SYBU_ENST00000433638.1_Missense_Mutation_p.S247C|SYBU_ENST00000424158.2_Missense_Mutation_p.S252C|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000528331.1_Missense_Mutation_p.S128C|SYBU_ENST00000533895.1_Missense_Mutation_p.S246C|SYBU_ENST00000408908.2_Missense_Mutation_p.S247C|SYBU_ENST00000440310.1_Missense_Mutation_p.S247C|SYBU_ENST00000446070.2_Missense_Mutation_p.S246C NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 247 Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 GTACCTTCCAGAACGCCTGAA 0.423000 63 74 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158609473 158609473 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:158609473C>T ENST00000368147.4 - 35 5059 c.4879G>A c.(4879-4881)Gag>Aag p.E1627K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 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) AGCAATGTCTCTGCCTGGAAA 0.458000 15 59 0 0 1 0 0 C1R 715 broad.mit.edu 37 12 7241944 7241944 + Missense_Mutation SNP T T G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:7241944T>G ENST00000542285.1 - 5 859 c.710A>C c.(709-711)gAg>gCg p.E237A P00736 C1R_HUMAN complement component 1, r subcomponent 238 CUB 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ATCAAAAGGCTCCAGGAACTT 0.592000 4 13 0 0 1 0 0 BHMT2 23743 broad.mit.edu 37 5 78379466 78379466 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:78379466T>C ENST00000255192.3 + 7 863 c.797T>C c.(796-798)gTt>gCt p.V266A DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Missense_Mutation_p.V202A NM_017614.4 NP_060084.2 Q9H2M3 BHMT2_HUMAN betaine--homocysteine S-methyltransferase 2 266 Hcy-binding. methionine biosynthetic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 15 all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36) L-Methionine(DB00134) GAGTCCAGAGTTGCCACCAGA 0.448000 13 19 0 0 1 0 0 B4GALNT4 338707 broad.mit.edu 37 11 381690 381690 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:381690G>T ENST00000329962.6 + 20 3018 c.3018G>T c.(3016-3018)gaG>gaT p.E1006D NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 1006 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CAGGGCTGGAGGTGGAGCGGC 0.701000 8 5 0.0381472 0.0384981 1 1 0 OR2H1 26716 broad.mit.edu 37 6 29430007 29430007 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:29430007C>T ENST00000377136.1 + 4 926 c.461C>T c.(460-462)tCg>tTg p.S154L OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377133.1_Missense_Mutation_p.S154L|OR2H1_ENST00000377132.1_Missense_Mutation_p.S154L|OR2H1_ENST00000442615.1_Missense_Mutation_p.S154L|OR2H1_ENST00000396792.2_Missense_Mutation_p.S154L Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, member 1 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S154L(1) large_intestine(5)|lung(12) 17 CTGGTTCAATCGATAGTCCAG 0.557000 87 59 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53303202 53303202 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:53303202C>T ENST00000438150.2 - 2 2630 c.1737G>A c.(1735-1737)gaG>gaA p.E579E ZNF28_ENST00000360272.4_Silent_p.E579E|ZNF28_ENST00000414252.2_Silent_p.E579E|ZNF28_ENST00000457749.2_Silent_p.E632E P17035 ZNF28_HUMAN zinc finger protein 28 632 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TGTAAGGTTTCTCTCCAGTAT 0.433000 36 139 0 0 1 0 0 KDM1A 23028 broad.mit.edu 37 1 23377003 23377003 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:23377003G>C ENST00000400181.4 + 4 805 c.701G>C c.(700-702)aGa>aCa p.R234T KDM1A_ENST00000542151.1_Missense_Mutation_p.R234T|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.R214T NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 214 SWIRM. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 CTTTTCATTAGAAACCGCACA 0.378000 15 26 0 0 1 0 0 HN1L 90861 broad.mit.edu 37 16 1741902 1741902 + Silent SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:1741902G>C ENST00000248098.3 + 3 309 c.252G>C c.(250-252)ctG>ctC p.L84L HN1L_ENST00000382710.4_Silent_p.L72L|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000569765.1_Intron|HN1L_ENST00000562684.1_Silent_p.L112L|HN1L_ENST00000382711.5_Silent_p.L68L|HN1L_ENST00000561516.1_Intron NM_144570.2 NP_653171.1 Q9H910 HN1L_HUMAN hematological and neurological expressed 1-like 84 cytoplasm|nucleus endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1) 9 GACAGCACCTGAACCCACCTG 0.537000 20 13 0 0 1 0 0 LHB 3972 broad.mit.edu 37 19 49519398 49519398 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:49519398G>C ENST00000221421.2 - 3 352 c.353C>G c.(352-354)tCt>tGt p.S118C NM_000894.2 NP_000885.1 P01229 LSHB_HUMAN luteinizing hormone beta polypeptide 118 cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction extracellular region|soluble fraction hormone activity cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Lutropin alfa(DB00044)|Menotropins(DB00032) CCCACAGTCAGAGGTGCTGCG 0.657000 7 33 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38370443 38370443 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:38370443G>C ENST00000322350.5 + 6 937 c.591G>C c.(589-591)caG>caC p.Q197H EGFLAM_ENST00000354891.3_Missense_Mutation_p.Q197H NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 197 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) AGCGGATCCAGATGGACTCCA 0.507000 34 12 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77885556 77885556 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:77885556G>A ENST00000354212.4 - 10 2004 c.1751C>T c.(1750-1752)cCg>cTg p.P584L MAGI2_ENST00000522391.1_Missense_Mutation_p.P584L|MAGI2_ENST00000535697.1_Missense_Mutation_p.P421L|MAGI2_ENST00000419488.1_Missense_Mutation_p.P584L|MAGI2_ENST00000536571.1_Missense_Mutation_p.P416L NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 584 cell junction|synapse|synaptosome phosphatase binding p.P584L(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ATGGACGGGCGGTGGATACGT 0.527000 15 9 0 0 1 0 0 AOC2 314 broad.mit.edu 37 17 40996883 40996883 + Silent SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:40996883G>T ENST00000253799.3 + 1 267 c.240G>T c.(238-240)gtG>gtT p.V80V AOC2_ENST00000452774.2_Silent_p.V80V NM_009590.2 NP_033720.2 O75106 AOC2_HUMAN amine oxidase, copper containing 2 (retina-specific) 80 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) CAGGGCTGGTGGACGCAGCCC 0.672000 69 74 8.83742e-36 9.99578e-36 1 1 0 GRIK3 2899 broad.mit.edu 37 1 37267619 37267619 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:37267619C>T ENST00000373091.3 - 16 2609 c.2593G>A c.(2593-2595)Gag>Aag p.E865K NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 865 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) AAACGGATCTCATCGGCCACG 0.577000 5 17 0 0 1 0 0 SHOC2 8036 broad.mit.edu 37 10 112769042 112769042 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:112769042C>T ENST00000369452.4 + 7 1666 c.1321C>T c.(1321-1323)Ccc>Tcc p.P441S SHOC2_ENST00000265277.5_Missense_Mutation_p.P395S|SHOC2_ENST00000489390.1_3'UTR NM_007373.3 NP_031399.2 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog (C. elegans) 441 fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2) 17 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) AAAGAAGCTTCCCCATGGTCT 0.313000 4 22 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13659600 13659600 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:13659600G>C ENST00000404922.3 + 6 1873 c.1754G>C c.(1753-1755)cGa>cCa p.R585P FBLN2_ENST00000492059.1_Missense_Mutation_p.R585P|FBLN2_ENST00000535798.1_Missense_Mutation_p.R611P|FBLN2_ENST00000295760.7_Missense_Mutation_p.R585P NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 585 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) ATGGCGGGCCGAGAGGCCCTG 0.617000 19 69 0 0 1 0 0 DENND1C 79958 broad.mit.edu 37 19 6468320 6468320 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:6468320C>T ENST00000381480.2 - 22 1828 c.1716G>A c.(1714-1716)aaG>aaA p.K572K DENND1C_ENST00000543576.1_Silent_p.K528K NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 572 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 TGCCTGCGCTCTTGGCTCCCA 0.582000 6 5 0 0 1 0 0 EFHD2 79180 broad.mit.edu 37 1 15736623 15736623 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:15736623C>T ENST00000375980.4 + 1 233 c.156C>T c.(154-156)gaC>gaT p.D52D NM_024329.5 NP_077305.2 Q96C19 EFHD2_HUMAN EF-hand domain family, member D2 52 membrane raft large_intestine(1)|skin(1) 2 Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) GCAGCGCGGACTGCGAGCTGA 0.771000 6 4 0 0 1 0 0 FAM166A 401565 broad.mit.edu 37 9 140139831 140139831 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:140139831C>G ENST00000344774.4 - 3 504 c.450G>C c.(448-450)ttG>ttC p.L150F FAM166A_ENST00000388932.2_Missense_Mutation_p.L150F NM_001001710.1 NP_001001710.1 Q6J272 F166A_HUMAN family with sequence similarity 166, member A 150 kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2) 15 CTGGGTGTCCCAAGTCTCTGG 0.637000 11 43 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101567972 101567972 + Missense_Mutation SNP T T C rs72558198 TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:101567972T>C ENST00000370449.4 + 13 1914 c.1801T>C c.(1801-1803)Tcc>Ccc p.S601P NM_000392.3 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 601 ABC transmembrane type-1 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CATGATGATCTCCTCCATGCT 0.488000 4 87 0 0 1 0 0 WDR37 22884 broad.mit.edu 37 10 1142135 1142135 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:1142135C>T ENST00000358220.1 + 9 819 c.675C>T c.(673-675)atC>atT p.I225I WDR37_ENST00000263150.4_Silent_p.I225I|WDR37_ENST00000381329.1_Silent_p.I225I Q9Y2I8 WDR37_HUMAN WD repeat domain 37 225 I -> V (in dbSNP:rs2306407). breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1) 17 all_epithelial(10;0.0449)|Colorectal(49;0.142) Epithelial(11;0.134) CTGCTCATATCTGGAGATACG 0.512000 42 37 0 0 1 0 0 ZFAND2B 130617 broad.mit.edu 37 2 220073014 220073014 + Silent SNP T T G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:220073014T>G ENST00000409594.1 + 5 666 c.471T>G c.(469-471)tcT>tcG p.S157S ZFAND2B_ENST00000289528.5_Silent_p.S157S|ZFAND2B_ENST00000409336.1_Silent_p.S157S|ZFAND2B_ENST00000409206.1_Silent_p.S157S|ZFAND2B_ENST00000409097.1_Silent_p.S157S|ZFAND2B_ENST00000409217.1_Silent_p.S157S|ZFAND2B_ENST00000444522.2_Silent_p.S157S Q8WV99 ZFN2B_HUMAN zinc finger, AN1-type domain 2B 157 endoplasmic reticulum protein binding|zinc ion binding endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1) 11 Renal(207;0.0915) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGTGGCTTCTACAAGCACTG 0.552000 4 19 0 0 1 0 0 VTA1 51534 broad.mit.edu 37 6 142519683 142519683 + Missense_Mutation SNP A A T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:142519683A>T ENST00000367630.4 + 6 686 c.628A>T c.(628-630)Act>Tct p.T210S VTA1_ENST00000491881.1_3'UTR|VTA1_ENST00000367621.1_Missense_Mutation_p.T152S|VTA1_ENST00000452973.2_Missense_Mutation_p.T152S NM_016485.3 NP_057569.2 Q9NP79 VTA1_HUMAN vesicle (multivesicular body) trafficking 1 210 Interaction with VPS4B (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) AGGCAACTATACTGGAATACA 0.473000 9 12 0 0 1 0 0 SH2D6 284948 broad.mit.edu 37 2 85662567 85662567 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:85662567C>T ENST00000340326.2 + 2 361 c.200C>T c.(199-201)tCg>tTg p.S67L SH2D6_ENST00000481426.2_3'UTR|SH2D6_ENST00000389938.2_Intron NM_198482.1 NP_940884.1 Q7Z4S9 SH2D6_HUMAN SH2 domain containing 6 67 SH2. central_nervous_system(1)|lung(2) 3 CCTTGGTACTCGGGGAACTGT 0.567000 37 6 0 0 1 0 0 KCNIP1 30820 broad.mit.edu 37 5 170148785 170148785 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:170148785C>A ENST00000434108.1 + 4 280 c.280C>A c.(280-282)Ccc>Acc p.P94T KCNIP1_ENST00000328939.4_Intron|KCNIP1_ENST00000520740.1_Intron|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000390656.4_Intron|KCNIP1_ENST00000411494.1_Intron Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 96 EF-hand 1; degenerate. detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGAAGGTTCTCCCTGTGTGGA 0.512000 20 8 1.2644e-06 1.33388e-06 1 1 0 KIAA1191 57179 broad.mit.edu 37 5 175782709 175782709 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:175782709G>A ENST00000298569.4 - 4 605 c.72C>T c.(70-72)atC>atT p.I24I KIAA1191_ENST00000510164.1_Silent_p.I24I|KIAA1191_ENST00000393728.2_Intron|KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000393725.2_Silent_p.I5I|RP11-843P14.1_ENST00000512934.1_RNA NM_020444.3 NP_065177.2 Q96A73 K1191_HUMAN KIAA1191 24 protein binding endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.101) GGTATATCCCGATGGGCAGGG 0.567000 27 9 0 0 1 0 0 SACM1L 22908 broad.mit.edu 37 3 45779283 45779283 + Silent SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:45779283T>C ENST00000389061.5 + 16 1533 c.1329T>C c.(1327-1329)aaT>aaC p.N443N SACM1L_ENST00000418611.1_Silent_p.N340N|SACM1L_ENST00000541314.1_Silent_p.N382N NM_014016.3 NP_054735.3 Q9NTJ5 SAC1_HUMAN SAC1 suppressor of actin mutations 1-like (yeast) 443 SAC. Golgi apparatus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) ACAACGCAAATGCTTGTGCCA 0.373000 50 3 0 0 1 0 0 FAM151A 338094 broad.mit.edu 37 1 55075104 55075104 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:55075104G>T ENST00000302250.2 - 8 1755 c.1595C>A c.(1594-1596)tCc>tAc p.S532Y ACOT11_ENST00000481208.1_3'UTR|FAM151A_ENST00000371304.2_Missense_Mutation_p.S345Y|ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000371316.3_Intron NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 532 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 GGCCCGGGGGGAGGATGCCAG 0.647000 11 42 5.50884e-06 5.74055e-06 1 1 0 FBXO48 554251 broad.mit.edu 37 2 68692015 68692015 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:68692015C>G ENST00000377957.3 - 3 670 c.263G>C c.(262-264)cGa>cCa p.R88P NM_001024680.1 NP_001019851.1 Q5FWF7 FBX48_HUMAN F-box protein 48 endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 TATTTCTCTTCGGCACACAGC 0.433000 19 69 0 0 1 0 0 BTNL3 10917 broad.mit.edu 37 5 180430855 180430855 + Splice_Site SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:180430855G>C ENST00000342868.6 + 5 971 c.e5-1 NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) TTCTGTTTCAGGGAAAATCCA 0.552000 114 70 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12984212 12984212 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:12984212C>G ENST00000251472.4 + 25 3377 c.3338C>G c.(3337-3339)tCg>tGg p.S1113W NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 1113 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TCGCTGTCGTCGCTGAACCGC 0.672000 4 11 0 0 1 0 0 ZNF25 219749 broad.mit.edu 37 10 38241938 38241938 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:38241938C>G ENST00000302609.7 - 6 700 c.488G>C c.(487-489)aGa>aCa p.R163T ZNF25_ENST00000374633.1_5'UTR NM_145011.2 NP_659448.1 P17030 ZNF25_HUMAN zinc finger protein 25 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) TTTCTGATGTCTTATGAGGTC 0.363000 71 59 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169565198 169565198 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:169565198G>A ENST00000263686.6 - 12 2103 c.2066C>T c.(2065-2067)tCa>tTa p.S689L SELP_ENST00000367788.2_Missense_Mutation_p.S627L|SELP_ENST00000367791.2_Missense_Mutation_p.S503L|SELP_ENST00000367792.2_Missense_Mutation_p.S505L|SELP_ENST00000367794.2_Missense_Mutation_p.S627L|SELP_ENST00000367793.2_Missense_Mutation_p.S627L|SELP_ENST00000458599.2_Missense_Mutation_p.S505L|SELP_ENST00000367786.2_Missense_Mutation_p.S627L NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 689 Sushi 8. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CCATTGTCCTGAAGGTCTGCA 0.493000 OREG0004610 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=SELP|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 66 314 0 0 1 0 0 SMC3 9126 broad.mit.edu 37 10 112360240 112360240 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:112360240T>C ENST00000361804.4 + 22 2597 c.2471T>C c.(2470-2472)aTt>aCt p.I824T NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 824 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) TTAGAAGGTATTATTACTCGA 0.323000 73 25 0 0 1 0 0 PRPH 5630 broad.mit.edu 37 12 49691480 49691480 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:49691480C>G ENST00000257860.4 + 7 2737 c.1238C>G c.(1237-1239)tCt>tGt p.S413C RP11-161H23.9_ENST00000553259.1_RNA NM_006262.3 NP_006253.2 P41219 PERI_HUMAN peripherin 413 Tail. structural molecule activity kidney(1)|large_intestine(2)|lung(8)|skin(1) 12 CCCGTCCATTCTTTTGCCTCC 0.632000 39 27 0 0 1 0 0 PLEKHO1 51177 broad.mit.edu 37 1 150128298 150128298 + Silent SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:150128298G>C ENST00000369124.4 + 3 494 c.216G>C c.(214-216)ctG>ctC p.L72L PLEKHO1_ENST00000025469.6_Silent_p.L72L|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_5'UTR NM_016274.4 NP_057358.2 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O member 1 72 PH. cytoplasm|nucleus|plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TATTTGACCTGAGTGACTATG 0.458000 29 172 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13941249 13941249 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:13941249C>T ENST00000254323.2 + 13 2544 c.2355C>T c.(2353-2355)ttC>ttT p.F785F ZSWIM4_ENST00000440752.2_Silent_p.F619F NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 785 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) ACTCGGCCTTCGAGGCGGCCT 0.706000 12 49 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88258484 88258484 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:88258484T>C ENST00000418177.2 - 9 3086 c.2719A>G c.(2719-2721)Atg>Gtg p.M907V GRM5_ENST00000305447.4_Missense_Mutation_p.M907V|GRM5_ENST00000305432.5_Intron|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000455756.2_Intron P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 907 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TACCTGCTCATTGTTGCTCTC 0.507000 102 95 0 0 1 0 0 MMP27 64066 broad.mit.edu 37 11 102573704 102573704 + Nonsense_Mutation SNP G G A rs148894063 TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:102573704G>A ENST00000260229.4 - 3 578 c.487C>T c.(487-489)Cga>Tga p.R163* NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 163 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) ACCTTACCTCGAGTCCTAAAG 0.408000 18 69 0 0 1 0 0 ARID5B 84159 broad.mit.edu 37 10 63851258 63851258 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:63851258A>G ENST00000279873.7 + 10 2446 c.2036A>G c.(2035-2037)tAc>tGc p.Y679C ARID5B_ENST00000309334.5_Missense_Mutation_p.Y436C NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 679 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CCCCTGCTCTACTCTAGGGGC 0.537000 6 15 0 0 1 0 0 FAM154A 158297 broad.mit.edu 37 9 18950936 18950936 + Splice_Site SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:18950936C>T ENST00000380534.4 - 2 318 c.e2-1 FAM154A_ENST00000380530.1_Splice_Site|FAM154A_ENST00000542071.1_Splice_Site|FAM154A_ENST00000583128.1_Splice_Site NM_153707.2 NP_714918.2 Q8IYX7 F154A_HUMAN family with sequence similarity 154, member A breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1) 26 GBM - Glioblastoma multiforme(50;6.53e-16) GTGATGCCGCCTATAAAAGAC 0.408000 15 31 0 0 1 0 0 RHOT1 55288 broad.mit.edu 37 17 30533948 30533948 + Nonsense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:30533948C>A ENST00000358365.3 + 17 1663 c.1436C>A c.(1435-1437)tCg>tAg p.S479* RHOT1_ENST00000583994.1_Nonsense_Mutation_p.S352*|RHOT1_ENST00000545287.2_Nonsense_Mutation_p.S479*|RHOT1_ENST00000333942.6_Nonsense_Mutation_p.S479*|RHOT1_ENST00000354266.3_Nonsense_Mutation_p.S458*|RHOT1_ENST00000581094.1_Nonsense_Mutation_p.S479*|RHOT1_ENST00000394692.2_Nonsense_Mutation_p.S479* NM_001033568.1 NP_001028740.1 Q8IXI2 MIRO1_HUMAN ras homolog family member T1 479 Miro 2. apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) ATCTCAGAATCGGAATTTCTA 0.308000 15 38 6.81908e-15 7.50294e-15 1 1 0 C12orf56 115749 broad.mit.edu 37 12 64784273 64784273 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:64784273G>A ENST00000543942.2 - 1 699 c.73C>T c.(73-75)Ctg>Ttg p.L25L RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Silent_p.L25L NM_001170633.1 NP_001164104.1 Q8IXR9 CL056_HUMAN chromosome 12 open reading frame 56 25 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1) 15 GBM - Glioblastoma multiforme(3;0.000582) GBM - Glioblastoma multiforme(28;0.0259) TCGGGCGGCAGATGCCGCCGC 0.682000 17 8 0 0 1 0 0 DEGS1 8560 broad.mit.edu 37 1 224377867 224377867 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:224377867C>A ENST00000323699.4 + 2 837 c.671C>A c.(670-672)cCa>cAa p.P224Q DEGS1_ENST00000391877.3_Missense_Mutation_p.P224Q NM_003676.3 NP_003667.1 O15121 DEGS1_HUMAN delta(4)-desaturase, sphingolipid 1 224 sphingolipid metabolic process|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity breast(1)|kidney(3)|large_intestine(2)|lung(4) 10 Breast(184;0.193) GBM - Glioblastoma multiforme(131;0.00643) GGTTTGCACCCAATTTCTGGA 0.373000 22 106 4.54149e-19 5.05487e-19 1 1 0 TPTE2P2 644623 broad.mit.edu 37 13 52857442 52857442 + RNA SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr13:52857442G>A ENST00000451298.1 - 0 263 AATAATCACAGTAACAGCAGT 0.313000 4 17 0 0 1 0 0 RAET1K 646024 broad.mit.edu 37 6 150322548 150322548 + RNA SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:150322548A>G ENST00000533735.1 - 0 328 NR_024045.1 AATCCCCCACATCTCTTAGTG 0.423000 15 7 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940335 144940335 + Missense_Mutation SNP A A C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr8:144940335A>C ENST00000525985.1 - 2 7158 c.7087T>G c.(7087-7089)Tac>Gac p.Y2363D P58107 EPIPL_HUMAN epiplakin 1 2363 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) CCGCGCCGGTAGGCCACGTCC 0.692000 11 623 0 0 1 0 0 PALMD 54873 broad.mit.edu 37 1 100154462 100154462 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:100154462T>C ENST00000263174.4 + 7 1021 c.646T>C c.(646-648)Tca>Cca p.S216P PALMD_ENST00000605497.1_Missense_Mutation_p.S216P NM_017734.4 NP_060204.1 Q9NP74 PALMD_HUMAN palmdelphin 216 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) TGGGCAAAAGTCAGTGTATGC 0.428000 17 74 0 0 1 0 0 CYB561A3 220002 broad.mit.edu 37 11 61124113 61124113 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:61124113T>C ENST00000546151.1 - 3 341 c.73A>G c.(73-75)Atc>Gtc p.I25V CYB561A3_ENST00000539890.1_Missense_Mutation_p.I25V|CYB561A3_ENST00000426130.2_Missense_Mutation_p.I42V|CYB561A3_ENST00000536915.1_Missense_Mutation_p.I25V|CYB561A3_ENST00000294072.4_Missense_Mutation_p.I25V|CYB561A3_ENST00000447532.2_Missense_Mutation_p.I25V|CYB561A3_ENST00000540317.1_Intron|CYB561A3_ENST00000544118.1_Missense_Mutation_p.I25V cytochrome b561 family, member A3 ATCCAGTAGATAGTGAAGAGG 0.532000 28 18 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45867571 45867571 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:45867571G>A ENST00000391945.4 - 9 814 c.737C>T c.(736-738)tCc>tTc p.S246F ERCC2_ENST00000391944.3_Missense_Mutation_p.S168F|ERCC2_ENST00000391940.4_Missense_Mutation_p.S222F|ERCC2_ENST00000485403.2_Missense_Mutation_p.S222F|ERCC2_ENST00000221481.6_Missense_Mutation_p.P127S NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 246 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) GACGCTCATGGAGTCGATGCA 0.682000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 13 15 0 0 1 0 0 CACNG4 27092 broad.mit.edu 37 17 65014329 65014329 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:65014329G>A ENST00000262138.3 + 2 247 c.245G>A c.(244-246)cGg>cAg p.R82Q NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 82 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) CACTGCTTCCGGATCAATCAC 0.537000 13 36 0 0 1 0 0 ASZ1 136991 broad.mit.edu 37 7 117023080 117023080 + Silent SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:117023080A>G ENST00000284629.2 - 7 834 c.772T>C c.(772-774)Ttg>Ctg p.L258L NM_130768.2 NP_570124.1 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper domain containing 1 258 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) TCTGTTGTCAATATTTTACAA 0.259000 23 35 0 0 1 0 0 UBR2 23304 broad.mit.edu 37 6 42658907 42658907 + Nonsense_Mutation SNP T T A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:42658907T>A ENST00000372899.1 + 47 5522 c.5264T>A c.(5263-5265)tTa>tAa p.L1755* UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Nonsense_Mutation_p.L1755* NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1755 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TGGCAACATTTATAATTATTG 0.378000 25 61 0 0 1 0 0 UCK1 83549 broad.mit.edu 37 9 134406058 134406058 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:134406058G>C ENST00000372211.3 - 2 123 c.98C>G c.(97-99)gCg>gGg p.A33G UCK1_ENST00000372210.3_Intron|UCK1_ENST00000459858.1_Intron|UCK1_ENST00000372208.3_Intron|UCK1_ENST00000372215.4_Intron Q9HA47 UCK1_HUMAN uridine-cytidine kinase 1 33 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219) CGGGATTCCCGCCTGGAACCG 0.637000 11 42 0 0 1 0 0 PPM1F 9647 broad.mit.edu 37 22 22280017 22280017 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr22:22280017C>T ENST00000407142.1 - 5 1466 c.406G>A c.(406-408)Gaa>Aaa p.E136K PPM1F_ENST00000538191.1_Missense_Mutation_p.E200K|PPM1F_ENST00000397495.4_Missense_Mutation_p.E304K|PPM1F_ENST00000263212.5_Missense_Mutation_p.E304K P49593 PPM1F_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1F 304 apoptosis|protein dephosphorylation protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.155) CCCAATGCTTCAATGCGCGCC 0.622000 11 59 0 0 1 0 0 SPANXN2 494119 broad.mit.edu 37 X 142803687 142803687 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chrX:142803687C>G ENST00000370498.1 - 1 829 c.76G>C c.(76-78)Gag>Cag p.E26Q NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 26 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) aATCTTACCTCATCATTTTTT 0.453000 29 3 0 0 1 0 0 C4BPA 722 broad.mit.edu 37 1 207307813 207307813 + Silent SNP T T G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:207307813T>G ENST00000367070.3 + 9 1343 c.1149T>G c.(1147-1149)ccT>ccG p.P383P NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 383 Sushi 6. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 AAAGTCGTCCTGCCAATCACT 0.398000 97 6 0 0 1 0 0 CKS2 1164 broad.mit.edu 37 9 91930187 91930187 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:91930187G>T ENST00000314355.6 + 2 257 c.162G>T c.(160-162)tgG>tgT p.W54C NM_001827.1 NP_001818.1 P33552 CKS2_HUMAN CDC28 protein kinase regulatory subunit 2 54 cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization cyclin-dependent protein kinase regulator activity kidney(1)|large_intestine(1) 2 GTCTAGGCTGGGTTCATTACA 0.373000 12 27 2.80697e-09 3.01504e-09 1 1 0 ANO8 57719 broad.mit.edu 37 19 17441040 17441040 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:17441040C>T ENST00000159087.4 - 10 1325 c.1167G>A c.(1165-1167)aaG>aaA p.K389K NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 389 Leu-rich. chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 GGGGCAACCCCTTCACGCTCA 0.627000 21 7 0 0 1 0 0 KRT79 338785 broad.mit.edu 37 12 53215731 53215731 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:53215731C>A ENST00000330553.5 - 9 1567 c.1533G>T c.(1531-1533)aaG>aaT p.K511N NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 511 Tail. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTGGCCCTCCCTTGACGGTGC 0.632000 4 20 0.00024832 0.00025633 1 1 0 KNTC1 9735 broad.mit.edu 37 12 123057774 123057774 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:123057774G>A ENST00000333479.7 + 26 2402 c.2225G>A c.(2224-2226)aGa>aAa p.R742K KNTC1_ENST00000450485.2_Missense_Mutation_p.R705K NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 742 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) AAGTTTATAAGAGTTTACATG 0.393000 6 84 0 0 1 0 0 GUSBP11 91316 broad.mit.edu 37 22 23980752 23980752 + RNA SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr22:23980752G>C ENST00000455485.1 - 0 3737 AP000347.4_ENST00000430707.2_RNA|KB-1572G7.3_ENST00000390329.3_RNA TGCAGAGAGAGACCCCTCCCC 0.562000 7 18 0 0 1 0 0 GHRHR 2692 broad.mit.edu 37 7 31009479 31009479 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:31009479C>T ENST00000409904.3 + 1 332 c.74C>T c.(73-75)cCa>cTa p.P25L GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000326139.2_Intron Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 0 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) GCTTGCCTCCCAGGGGCTGTG 0.617000 16 42 0 0 1 0 0 COLEC12 81035 broad.mit.edu 37 18 346754 346754 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr18:346754G>T ENST00000400256.3 - 5 1075 c.868C>A c.(868-870)Ctc>Atc p.L290I NM_130386.2 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 290 carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) AATGAGTTGAGCTGGCTGTTC 0.507000 31 44 6.00712e-18 6.66686e-18 1 1 0 LRRC37A3 374819 broad.mit.edu 37 17 62857079 62857079 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:62857079G>A ENST00000584306.1 - 11 3715 c.3185C>T c.(3184-3186)tCt>tTt p.S1062F LRRC37A3_ENST00000319651.5_Missense_Mutation_p.S1062F|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.S100F|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.S180F|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.S39F NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1062 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 ATTCCCTACAGATGCTTCTTC 0.478000 28 101 0 0 1 0 0 ACSBG2 81616 broad.mit.edu 37 19 6177350 6177350 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:6177350C>G ENST00000588304.1 + 8 1145 c.699C>G c.(697-699)atC>atG p.I233M ACSBG2_ENST00000586696.1_Missense_Mutation_p.I283M|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.I283M|ACSBG2_ENST00000591403.1_Missense_Mutation_p.I283M|ACSBG2_ENST00000588485.1_Missense_Mutation_p.I96M Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 283 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGATGGACATCTGGGTACCCA 0.493000 4 15 0 0 1 0 0 FANCA 2175 broad.mit.edu 37 16 89846364 89846364 + Splice_Site SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:89846364G>C ENST00000389301.3 - 18 1658 c.1628C>G c.(1627-1629)cCc>cGc p.P543R FANCA_ENST00000568369.1_Splice_Site_p.P543R NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 543 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) TTGGCTGTGGGGCTGGTTCCC 0.512000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 24 22 0 0 1 0 0 TCP11L2 255394 broad.mit.edu 37 12 106729516 106729516 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:106729516C>G ENST00000299045.3 + 7 1046 c.872C>G c.(871-873)tCc>tGc p.S291C NM_152772.1 NP_689985.1 Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 291 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 GAAAATACCTCCAAGCCAAGC 0.388000 18 52 0 0 1 0 0 CCDC82 79780 broad.mit.edu 37 11 96117503 96117503 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:96117503G>A ENST00000278520.5 - 3 837 c.409C>T c.(409-411)Ctc>Ttc p.L137F CCDC82_ENST00000423339.2_Missense_Mutation_p.L137F|CCDC82_ENST00000542662.1_Missense_Mutation_p.L137F Q8N4S0 CCD82_HUMAN coiled-coil domain containing 82 137 protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.154) TGTTTGTTGAGATCATTATCC 0.323000 18 77 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121212446 121212446 + Missense_Mutation SNP A A C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:121212446A>C ENST00000264233.5 - 15 2529 c.2401T>G c.(2401-2403)Tta>Gta p.L801V NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 801 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) GCATTTAGTAAGGATACCCGA 0.493000 DNA polymerases (catalytic subunits) 25 46 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 3861205 3861205 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:3861205G>A ENST00000404826.2 + 5 976 c.837G>A c.(835-837)ttG>ttA p.L279L SDK1_ENST00000389531.3_Silent_p.L279L NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 279 cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TCATTCATTTGAGCATAGCAA 0.423000 56 16 0 0 1 0 0 SPHK2 56848 broad.mit.edu 37 19 49131994 49131994 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:49131994G>A ENST00000443164.1 + 5 1820 c.1115G>A c.(1114-1116)cGg>cAg p.R372Q SPHK2_ENST00000600537.1_Missense_Mutation_p.R251Q|SPHK2_ENST00000599029.1_Missense_Mutation_p.R274Q|SPHK2_ENST00000598088.1_Missense_Mutation_p.R310Q|SPHK2_ENST00000599748.1_Missense_Mutation_p.R274Q|SPHK2_ENST00000245222.4_Missense_Mutation_p.R310Q|SPHK2_ENST00000340932.3_Intron Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 310 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) TTGCTGTGCCGGGGTGGTGGC 0.617000 7 34 0 0 1 0 0 PDSS2 57107 broad.mit.edu 37 6 107475944 107475944 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:107475944G>A ENST00000369037.4 - 8 1356 c.1079C>T c.(1078-1080)tCa>tTa p.S360L PDSS2_ENST00000453874.2_Missense_Mutation_p.S258L NM_020381.3 NP_065114.3 Q86YH6 DLP1_HUMAN prenyl (decaprenyl) diphosphate synthase, subunit 2 360 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion protein heterodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3) 19 Breast(9;0.0127) all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211) BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243) BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191) GTCAATAGCTGAAGTCACACC 0.433000 15 52 0 0 1 0 0 LPCAT4 254531 broad.mit.edu 37 15 34654788 34654788 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr15:34654788C>T ENST00000314891.6 - 9 1047 c.870G>A c.(868-870)caG>caA p.Q290Q NM_153613.2 NP_705841.2 Q643R3 LPCT4_HUMAN lysophosphatidylcholine acyltransferase 4 290 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1) 10 CCATGACCCTCTGAACATTGT 0.542000 19 22 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23545504 23545504 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:23545504C>T ENST00000300619.7 - 4 482 c.277G>A c.(277-279)Gac>Aac p.D93N ZNF91_ENST00000397082.2_Missense_Mutation_p.D61N|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 93 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGCCAAAAGTCTTGAGGAAAA 0.303000 6 54 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156915379 156915379 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:156915379G>A ENST00000257527.4 - 21 2522 c.2444C>T c.(2443-2445)gCt>gTt p.A815V ADAM19_ENST00000394020.1_Missense_Mutation_p.A817V|ADAM19_ENST00000517905.1_Missense_Mutation_p.A815V|ADAM19_ENST00000430702.2_Missense_Mutation_p.A548V NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 815 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGAGTTCCTAGCAGCCCTGCT 0.647000 10 28 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 181635 181635 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:181635G>A ENST00000283426.6 + 17 3391 c.3341G>A c.(3340-3342)aGa>aAa p.R1114K NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 1114 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) TTAGAACTCAGAATCCAAGAA 0.532000 8 45 0 0 1 0 0 PRDX4 10549 broad.mit.edu 37 X 23693156 23693156 + Nonsense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chrX:23693156G>T ENST00000379341.4 + 3 534 c.409G>T c.(409-411)Gaa>Taa p.E137* PRDX4_ENST00000379331.3_Nonsense_Mutation_p.E137*|PRDX4_ENST00000495599.1_3'UTR NM_006406.1 NP_006397.1 Q13162 PRDX4_HUMAN peroxiredoxin 4 137 Thioredoxin. cell redox homeostasis|I-kappaB phosphorylation thioredoxin peroxidase activity lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 9 CAGACTTGAAGAATTCAGATC 0.338000 19 2 2.37509e-13 2.6021e-13 1 1 0 HEATR6 63897 broad.mit.edu 37 17 58147083 58147083 + Silent SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:58147083G>T ENST00000184956.6 - 7 944 c.928C>A c.(928-930)Cga>Aga p.R310R HEATR6_ENST00000585976.1_Silent_p.R310R NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 310 binding p.R310*(1) NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) AAAGTTGGTCGAGAAGCACTG 0.388000 14 40 6.72482e-11 7.30504e-11 1 1 0 TRIOBP 11078 broad.mit.edu 37 22 38165073 38165073 + Missense_Mutation SNP T T A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr22:38165073T>A ENST00000406386.3 + 20 6869 c.6614T>A c.(6613-6615)cTa>cAa p.L2205Q TRIOBP_ENST00000403663.2_Missense_Mutation_p.L492Q NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 2205 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CTGCAGGTGCTATCGGAGCAG 0.637000 7 57 0 0 1 0 0 PFAS 5198 broad.mit.edu 37 17 8159879 8159879 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:8159879G>A ENST00000314666.6 + 8 992 c.859G>A c.(859-861)Gag>Aag p.E287K PFAS_ENST00000545834.1_5'UTR NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 287 '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) CCTACGGCCTGAGGACCCCAC 0.562000 15 1 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134072770 134072770 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:134072770C>T ENST00000534548.2 - 13 1620 c.1556G>A c.(1555-1557)cGt>cAt p.R519H NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 519 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GGGTTCGGAACGGTTAGATGT 0.378000 5 63 0 0 1 0 0 C16orf70 80262 broad.mit.edu 37 16 67180251 67180251 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:67180251G>C ENST00000219139.3 + 15 1368 c.1180G>C c.(1180-1182)Gag>Cag p.E394Q C16orf70_ENST00000569600.1_Missense_Mutation_p.E394Q NM_025187.3 NP_079463.2 Q9BSU1 CP070_HUMAN chromosome 16 open reading frame 70 394 cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) AATGATCTTTGAGGTAAGCTG 0.507000 39 136 0 0 1 0 0 MGAT2 4247 broad.mit.edu 37 14 50088401 50088401 + Nonsense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr14:50088401C>T ENST00000305386.2 + 1 913 c.415C>T c.(415-417)Cga>Tga p.R139* RP11-649E7.5_ENST00000555043.1_RNA NM_002408.3 NP_002399.1 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 139 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(6) 11 all_epithelial(31;0.0021)|Breast(41;0.0124) GGACTCACTTCGAAAAGCCCA 0.567000 36 25 0 0 1 0 0 PPM1D 8493 broad.mit.edu 37 17 58740365 58740365 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:58740365G>C ENST00000305921.3 + 6 1502 c.1270G>C c.(1270-1272)Gag>Cag p.E424Q NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 424 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) GTCACTGGAGGAGGATCCATG 0.388000 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 21 48 0 0 1 0 0 PLK3 1263 broad.mit.edu 37 1 45266577 45266577 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:45266577C>T ENST00000372201.4 + 2 515 c.276C>T c.(274-276)gtC>gtT p.V92V PLK3_ENST00000465443.1_3'UTR NM_004073.2 NP_004064.2 Q9H4B4 PLK3_HUMAN polo-like kinase 3 92 Protein kinase. membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) CTGTCAAAGTCATCCCGCAGA 0.672000 8 7 0 0 1 0 0 PPIG 9360 broad.mit.edu 37 2 170462570 170462570 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:170462570C>T ENST00000260970.3 + 5 378 c.158C>T c.(157-159)tCa>tTa p.S53L PPIG_ENST00000462903.1_Missense_Mutation_p.S53L|PPIG_ENST00000448752.2_Missense_Mutation_p.S53L|PPIG_ENST00000409714.3_Missense_Mutation_p.S53L NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 53 PPIase cyclophilin-type. protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) ACCGGGAAATCAACTCAGAAA 0.343000 32 5 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158325934 158325934 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:158325934A>G ENST00000434258.1 + 4 948 c.937A>G c.(937-939)Ata>Gta p.I313V CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368167.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368166.3_Intron P15812 CD1E_HUMAN CD1e molecule 0 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) AATAATGAAAATAGCCCTGGG 0.478000 5 13 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57552351 57552351 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:57552351C>T ENST00000243077.3 + 11 2194 c.1728C>T c.(1726-1728)gcC>gcT p.A576A NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 576 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TCTACTTTGCCGACACCACCA 0.592000 14 20 0 0 1 0 0 VEZT 55591 broad.mit.edu 37 12 95676273 95676273 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:95676273G>A ENST00000436874.1 + 8 1286 c.1181G>A c.(1180-1182)cGc>cAc p.R394H VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.R346H NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 394 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 GAGCTTAAGCGCAGCTATGAG 0.448000 77 74 0 0 1 0 0 TSC1 7248 broad.mit.edu 37 9 135776988 135776988 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:135776988C>G ENST00000298552.3 - 19 2711 c.2490G>C c.(2488-2490)caG>caC p.Q830H TSC1_ENST00000440111.2_Missense_Mutation_p.Q830H|TSC1_ENST00000545250.1_Missense_Mutation_p.Q779H NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 830 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TTTGGGAAACCTGACTGAGCA 0.458000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis OREG0019577 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 17 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62739716 62739716 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:62739716C>T ENST00000371153.4 - 3 1438 c.1060G>A c.(1060-1062)Gga>Aga p.G354R KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 354 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 GACAACTCTCCCTCCAGGGCC 0.557000 17 41 0 0 1 0 0 USP19 10869 broad.mit.edu 37 3 49152740 49152740 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:49152740C>T ENST00000453664.1 - 13 2225 c.1907G>A c.(1906-1908)cGt>cAt p.R636H USP19_ENST00000398888.2_Missense_Mutation_p.R545H|USP19_ENST00000398896.1_Missense_Mutation_p.R353H|USP19_ENST00000417901.1_Missense_Mutation_p.R648H|USP19_ENST00000398898.2_Missense_Mutation_p.R585H|USP19_ENST00000434032.2_Missense_Mutation_p.R646H|USP19_ENST00000398892.3_Missense_Mutation_p.R585H NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 545 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AATGGCCAGACGCCCACCAGT 0.562000 7 27 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64547317 64547317 + Silent SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:64547317C>A ENST00000498707.1 - 30 4977 c.4635G>T c.(4633-4635)tcG>tcT p.S1545S ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA|ADAMTS9_ENST00000295903.4_Silent_p.S1517S|ADAMTS9-AS1_ENST00000480831.1_RNA NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1545 TSP type-1 12. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) AGTCGCGTTCCGACTCCGGTC 0.577000 16 18 1.5739e-10 1.70728e-10 1 1 0 RPGRIP1 57096 broad.mit.edu 37 14 21780021 21780021 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr14:21780021C>G ENST00000206660.6 + 8 969 c.969C>G c.(967-969)ctC>ctG p.L323L RPGRIP1_ENST00000557771.1_Silent_p.L296L|RPGRIP1_ENST00000400017.2_Silent_p.L323L|RPGRIP1_ENST00000556336.1_Silent_p.L296L Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 323 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) AGGCCCTCCTCAAGCAAGTGA 0.507000 13 1 0 0 1 0 0 BPIFB4 149954 broad.mit.edu 37 20 31685564 31685564 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr20:31685564C>G ENST00000375483.3 + 11 1540 c.1540C>G c.(1540-1542)Ctg>Gtg p.L514V NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 514 cytoplasm|extracellular region lipid binding GCCCAAAGACCTGGAGACTAC 0.587000 7 26 0 0 1 0 0 CEP104 9731 broad.mit.edu 37 1 3753978 3753978 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:3753978C>G ENST00000378230.3 - 9 1321 c.997G>C c.(997-999)Gaa>Caa p.E333Q NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa 333 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 AACTGGTTTTCTGTTCCTCTT 0.488000 9 18 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225751229 225751229 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:225751229T>C ENST00000409592.3 - 5 531 c.418A>G c.(418-420)Aag>Gag p.K140E DOCK10_ENST00000258390.7_Missense_Mutation_p.K146E Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 146 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) GAAGGAAGCTTCTCTGGTTTG 0.328000 17 1 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43604208 43604208 + Silent SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr22:43604208G>C ENST00000360835.4 - 20 2730 c.2604C>G c.(2602-2604)acC>acG p.T868T NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 CUB. adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) AGGTCTCATAGGTGGTGATGG 0.602000 13 26 0 0 1 0 0 PSMG1 8624 broad.mit.edu 37 21 40547587 40547587 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr21:40547587T>C ENST00000331573.3 - 7 1261 c.796A>G c.(796-798)Att>Gtt p.I266V PSMG1_ENST00000380900.2_Missense_Mutation_p.I245V NM_001261824.1|NM_003720.3 NP_001248753.1|NP_003711.1 O95456 PSMG1_HUMAN proteasome (prosome, macropain) assembly chaperone 1 266 proteasome assembly endoplasmic reticulum protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 8 Prostate(19;8.44e-08) CTTTGGGGAATATTCTGAAAG 0.398000 OREG0026220 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 93 0 0 1 0 0 AHSA1 10598 broad.mit.edu 37 14 77929063 77929063 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr14:77929063A>G ENST00000216479.3 + 4 593 c.433A>G c.(433-435)Aga>Gga p.R145G AHSA1_ENST00000555457.1_Intron|AHSA1_ENST00000535854.2_Missense_Mutation_p.R145G NM_012111.2 NP_036243.1 O95433 AHSA1_HUMAN AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) 145 protein folding|response to stress cytosol|endoplasmic reticulum ATPase activator activity|chaperone binding endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1) 8 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) GAAACTTCTAAGAGAAGCAAT 0.443000 26 49 0 0 1 0 0 SIRT6 51548 broad.mit.edu 37 19 4177122 4177122 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:4177122C>G ENST00000337491.2 - 4 455 c.391G>C c.(391-393)Gag>Cag p.E131Q SIRT6_ENST00000601488.1_Missense_Mutation_p.E70Q|SIRT6_ENST00000594279.1_Missense_Mutation_p.E59Q|SIRT6_ENST00000305232.6_Missense_Mutation_p.E131Q|SIRT6_ENST00000381935.3_Missense_Mutation_p.E59Q NM_016539.2 NP_057623.2 Q8N6T7 SIRT6_HUMAN sirtuin 6 131 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation nuclear telomeric heterochromatin|nucleoplasm NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18) CCGTGGAGCTCTGCCAGTTTG 0.602000 7 5 0 0 1 0 0 R3HCC1L 27291 broad.mit.edu 37 10 99968466 99968466 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:99968466G>A ENST00000298999.3 + 5 898 c.595G>A c.(595-597)Gaa>Aaa p.E199K R3HCC1L_ENST00000370584.3_Missense_Mutation_p.E199K|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR NM_014472.4 NP_055287 R3H domain and coiled-coil containing 1-like GGAAGCATTTGAAGACAAAGA 0.403000 17 38 0 0 1 0 0 DBR1 51163 broad.mit.edu 37 3 137892377 137892377 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:137892377C>T ENST00000260803.4 - 2 442 c.289G>A c.(289-291)Ggt>Agt p.G97S DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'UTR NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 97 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 ACCCAGCCACCATAGGGTAAC 0.418000 29 103 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13095527 13095527 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr18:13095527G>C ENST00000506447.1 + 35 6360 c.6280G>C c.(6280-6282)Ggt>Cgt p.G2094R CEP192_ENST00000325971.8_Missense_Mutation_p.G1498R|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.G1619R NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1689 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TGGGAAACATGGTGGCAACGT 0.458000 22 91 0 0 1 0 0 HSPA5 3309 broad.mit.edu 37 9 127999158 127999158 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:127999158C>G ENST00000324460.6 - 8 1881 c.1678G>C c.(1678-1680)Gat>Cat p.D560H NM_005347.4 NP_005338.1 P11021 GRP78_HUMAN heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 560 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1) 23 Antihemophilic Factor(DB00025) TTTCTAGTATCAATGCGCTCC 0.413000 Prostate(1;0.17) 62 27 0 0 1 0 0 RPS2 6187 broad.mit.edu 37 16 2012198 2012198 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:2012198G>T ENST00000343262.4 - 7 839 c.783C>A c.(781-783)ttC>ttA p.F261L RPS2_ENST00000529806.1_3'UTR|RPS2_ENST00000526522.1_Missense_Mutation_p.F203L|RPS2_ENST00000530225.1_3'UTR NM_002952.3 NP_002943.2 P15880 RS2_HUMAN ribosomal protein S2 261 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleoplasm fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GAGACTTGGTGAATACAGTCT 0.547000 11 26 6.40141e-05 6.63466e-05 1 1 0 TNPO2 30000 broad.mit.edu 37 19 12817070 12817070 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:12817070G>A ENST00000425528.1 - 15 1965 c.1608C>T c.(1606-1608)ctC>ctT p.L536L TNPO2_ENST00000356861.5_Silent_p.L536L|TNPO2_ENST00000592287.1_Silent_p.L536L|TNPO2_ENST00000441499.1_Silent_p.L536L|TNPO2_ENST00000450764.2_Silent_p.L536L|TNPO2_ENST00000588216.1_Silent_p.L536L O14787 TNPO2_HUMAN transportin 2 536 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CATAGAGGATGAGCAGGTTCT 0.622000 5 8 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179320279 179320279 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:179320279C>T ENST00000356834.3 - 5 803 c.766G>A c.(766-768)Gag>Aag p.E256K TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E256K NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 256 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGAAGCCCTCGCTGTCCAGC 0.632000 4 15 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433676 73433676 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:73433676C>A ENST00000263666.4 - 10 2155 c.2041G>T c.(2041-2043)Gtg>Ttg p.V681L PDZRN3_ENST00000535920.1_Missense_Mutation_p.V403L|PDZRN3_ENST00000466780.1_Missense_Mutation_p.V338L|PDZRN3_ENST00000462146.2_Missense_Mutation_p.V338L|PDZRN3_ENST00000479530.1_Missense_Mutation_p.V398L NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 681 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TCCTTGTCCACGCTCTCAGGG 0.637000 6 10 8.12818e-05 8.413e-05 1 1 0 REG3A 5068 broad.mit.edu 37 2 79385844 79385844 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:79385844C>A ENST00000393878.1 - 2 382 c.128G>T c.(127-129)gGc>gTc p.G43V AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000409839.3_Missense_Mutation_p.G43V|REG3A_ENST00000305165.2_Missense_Mutation_p.G43V NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 43 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 GGCCTTGGAGCCTTTGGGACA 0.552000 17 1 0.000422831 0.000435885 1 1 0 KCNJ12 3768 broad.mit.edu 37 17 21319666 21319666 + Missense_Mutation SNP T T A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:21319666T>A ENST00000583088.1 + 3 1907 c.1012T>A c.(1012-1014)Tac>Aac p.Y338N KCNJ12_ENST00000331718.5_Missense_Mutation_p.Y338N NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) GAAGAACCAGTACAAGATTGA 0.587000 Prostate(3;0.18) 14 29 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125082837 125082837 + Missense_Mutation SNP A A C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr8:125082837A>C ENST00000522917.1 + 30 4170 c.3964A>C c.(3964-3966)Aag>Cag p.K1322Q FER1L6_ENST00000399018.1_Missense_Mutation_p.K1322Q|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1322 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AGGAAAATTTAAGGCAGGTTC 0.413000 4 97 0 0 1 0 0 CHMP4B 128866 broad.mit.edu 37 20 32399400 32399400 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr20:32399400C>T ENST00000217402.2 + 1 291 c.126C>T c.(124-126)ttC>ttT p.F42F NM_176812.4 NP_789782.1 Q9H444 CHM4B_HUMAN charged multivesicular body protein 4B 42 cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 AACAGGAGTTCCTGGAGAAGA 0.647000 4 13 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101243219 101243219 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:101243219A>G ENST00000259455.2 - 5 1252 c.793T>C c.(793-795)Tgt>Cgt p.C265R GABBR2_ENST00000477471.1_5'UTR NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 265 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) CTTACACAACAGAACACTTTT 0.453000 7 27 0 0 1 0 0 HYOU1 10525 broad.mit.edu 37 11 118926023 118926023 + Missense_Mutation SNP C C G rs150918294 TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:118926023C>G ENST00000404233.3 - 5 417 c.293G>C c.(292-294)cGt>cCt p.R98P HYOU1_ENST00000543287.1_Missense_Mutation_p.R11P|HYOU1_ENST00000529972.1_Missense_Mutation_p.R98P|HYOU1_ENST00000525859.1_Missense_Mutation_p.R98P NM_001130991.1|NM_006389.3 NP_001124463.1|NP_006380.1 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 98 endoplasmic reticulum lumen ATP binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) CTGGAAGTAACGTAGCGTAGC 0.537000 5 105 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55451532 55451532 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:55451532C>T ENST00000446217.1 - 6 1141 c.739G>A c.(739-741)Ggc>Agc p.G247S NLRP7_ENST00000448121.2_Missense_Mutation_p.G219S|NLRP7_ENST00000340844.2_Missense_Mutation_p.G219S|NLRP7_ENST00000328092.5_Missense_Mutation_p.G219S|NLRP7_ENST00000590030.1_Missense_Mutation_p.G219S|NLRP7_ENST00000588756.1_Missense_Mutation_p.G219S|NLRP7_ENST00000592784.1_Missense_Mutation_p.G219S Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 219 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) CTGCAGGGGCCCATGCGGCTG 0.552000 25 18 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43316264 43316264 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:43316264G>A ENST00000361428.2 - 6 2947 c.2870C>T c.(2869-2871)gCa>gTa p.A957V ZNF318_ENST00000318149.3_Missense_Mutation_p.A957V NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 957 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CCGTAGCTCTGCAATGTCCTT 0.473000 60 64 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24805971 24805971 + Silent SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:24805971T>C ENST00000395799.3 + 8 3588 c.3459T>C c.(3457-3459)aaT>aaC p.N1153N TNRC6A_ENST00000315183.7_Silent_p.N1153N NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1153 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) GAATGTGGAATAGTAATTCAT 0.428000 13 14 0 0 1 0 0 POMC 5443 broad.mit.edu 37 2 25383959 25383959 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:25383959C>A ENST00000405623.1 - 3 1250 c.795G>T c.(793-795)aaG>aaT p.K265N POMC_ENST00000380794.1_Missense_Mutation_p.K265N|POMC_ENST00000264708.3_Missense_Mutation_p.K265N|POMC_ENST00000395826.2_Missense_Mutation_p.K265N P01189 COLI_HUMAN proopiomelanocortin 265 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) CTCACTCGCCCTTCTTGTAGG 0.647000 6 39 5.9392e-07 6.30886e-07 1 1 0 SH3TC1 54436 broad.mit.edu 37 4 8218865 8218865 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:8218865C>G ENST00000539824.1 + 7 956 c.582C>G c.(580-582)gcC>gcG p.A194A SH3TC1_ENST00000245105.3_Silent_p.A270A Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 270 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 CAGTGGCGGCCGCCCCGGAGC 0.662000 3 1 0 0 1 0 0 T 6862 broad.mit.edu 37 6 166578115 166578115 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:166578115G>A ENST00000296946.2 - 6 1176 c.708C>T c.(706-708)agC>agT p.S236S T_ENST00000366871.3_Silent_p.S236S NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 236 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CAGGTTGCTGGCTGTCTCCGG 0.418000 Chordoma, Familial Clustering of 9 54 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28483309 28483309 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr15:28483309T>C ENST00000261609.7 - 25 3911 c.3803A>G c.(3802-3804)gAa>gGa p.E1268G NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1268 Cytochrome b5 heme-binding. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CCGGGTGTCTTCAAACTGCAA 0.502000 26 31 0 0 1 0 0 POPDC3 64208 broad.mit.edu 37 6 105609709 105609709 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:105609709C>G ENST00000254765.3 - 2 354 c.76G>C c.(76-78)Gaa>Caa p.E26Q BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369122.3_RNA|POPDC3_ENST00000474760.1_5'UTR NM_022361.4 NP_071756.2 Q9HBV1 POPD3_HUMAN popeye domain containing 3 26 integral to membrane p.E26K(1) NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1) 26 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) ATGGCTCCTTCGGCCTCTTGC 0.438000 16 51 0 0 1 0 0 OTC 5009 broad.mit.edu 37 X 38262959 38262959 + Missense_Mutation SNP A A T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chrX:38262959A>T ENST00000039007.4 + 6 781 c.629A>T c.(628-630)aAa>aTa p.K210I TM4SF2_ENST00000465127.1_Intron NM_000531.5 NP_000522.3 P00480 OTC_HUMAN ornithine carbamoyltransferase 210 arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 L-Citrulline(DB00155)|L-Ornithine(DB00129) AGCGCAGCGAAATTCGGAATG 0.473000 13 2 0 0 1 0 0 CNNM1 26507 broad.mit.edu 37 10 101151218 101151218 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:101151218C>T ENST00000356713.4 + 11 3090 c.2801C>T c.(2800-2802)cCa>cTa p.P934L CNNM1_ENST00000370528.3_Missense_Mutation_p.P813L|CNNM1_ENST00000446890.1_Missense_Mutation_p.P863L|CNNM1_ENST00000370534.4_Missense_Mutation_p.P590L NM_020348.2 NP_065081.2 Q9NRU3 CNNM1_HUMAN cyclin M1 934 ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) AAGAGGTCACCAGAAGGAGAG 0.448000 10 6 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147128288 147128288 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:147128288G>A ENST00000282928.4 + 1 1118 c.389G>A c.(388-390)gGc>gAc p.G130D NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 130 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G130A(1) central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 GGCTTCGGGGGCCCACACGGC 0.711000 3 14 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116730000 116730000 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:116730000C>T ENST00000375300.1 - 19 2607 c.2602G>A c.(2602-2604)Gac>Aac p.D868N SIK3_ENST00000375288.1_Missense_Mutation_p.D205N|SIK3_ENST00000542607.1_Missense_Mutation_p.D810N|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.D709N|SIK3_ENST00000292055.4_Missense_Mutation_p.D810N|SIK3_ENST00000446921.2_Missense_Mutation_p.D868N Q9Y2K2 SIK3_HUMAN SIK family kinase 3 810 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 TCTGCACTGTCAGCACTCAGC 0.582000 19 21 0 0 1 0 0 PPP1R7 5510 broad.mit.edu 37 2 242092900 242092900 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:242092900G>A ENST00000234038.6 + 2 536 c.62G>A c.(61-63)cGg>cAg p.R21Q PPP1R7_ENST00000406106.3_Missense_Mutation_p.R21Q|PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000407025.1_Missense_Mutation_p.R21Q|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000404405.3_Missense_Mutation_p.R21Q NM_001282412.1|NM_001282413.1|NM_002712.1 NP_001269341.1|NP_001269342.1|NP_002703.1 Q15435 PP1R7_HUMAN protein phosphatase 1, regulatory subunit 7 21 cytoplasm|nucleus protein binding|protein phosphatase type 1 regulator activity p.R21L(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3) 23 all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096) GTTGACAGGCGGGTCGAGTCT 0.493000 9 20 0 0 1 0 0 ARCN1 372 broad.mit.edu 37 11 118452116 118452116 + Splice_Site SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:118452116T>C ENST00000534182.2 + 2 271 c.159T>C c.(157-159)agT>agC p.S53S ARCN1_ENST00000392859.3_Intron|ARCN1_ENST00000359415.4_Silent_p.S94S|ARCN1_ENST00000264028.4_Silent_p.S53S P48444 COPD_HUMAN archain 1 53 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER clathrin adaptor complex|COPI vesicle coat|cytosol endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1) 13 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) AAACAGAGAGTGTAAGATATG 0.403000 32 77 0 0 1 0 0 BCAR3 8412 broad.mit.edu 37 1 94041603 94041603 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:94041603G>C ENST00000370244.1 - 10 2058 c.1770C>G c.(1768-1770)caC>caG p.H590Q BCAR3_ENST00000539242.1_Missense_Mutation_p.H266Q|BCAR3_ENST00000370247.3_Missense_Mutation_p.H499Q|BCAR3_ENST00000370243.1_Missense_Mutation_p.H590Q|BCAR3_ENST00000260502.6_Missense_Mutation_p.H590Q NM_001261408.1 NP_001248337.1 O75815 BCAR3_HUMAN breast cancer anti-estrogen resistance 3 590 Ras-GEF. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) GCTGGTGTCCGTGAGGCAAGG 0.547000 5 32 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154553936 154553936 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:154553936C>G ENST00000409959.3 + 32 4323 c.4274C>G c.(4273-4275)aCc>aGc p.T1425S KIAA0922_ENST00000440693.1_Missense_Mutation_p.T1341S|KIAA0922_ENST00000409663.3_Missense_Mutation_p.T1424S NM_001131007.1 NP_001124479.1 A2VDJ0 T131L_HUMAN KIAA0922 1424 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) TTAAACTGCACCCTGGAGAAC 0.537000 22 35 0 0 1 0 0 LMNA 4000 broad.mit.edu 37 1 156096689 156096689 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:156096689G>A ENST00000368297.1 + 2 198 c.96G>A c.(94-96)gcG>gcA p.A32A LMNA_ENST00000368301.2_Intron|LMNA_ENST00000473598.2_Intron|LMNA_ENST00000347559.2_Intron|LMNA_ENST00000361308.4_Intron|LMNA_ENST00000368299.3_Intron|LMNA_ENST00000368300.4_Intron|LMNA_ENST00000448611.2_Intron|LMNA_ENST00000392353.3_Silent_p.A32A NM_001282624.1 NP_001269553.1 P02545 LMNA_HUMAN lamin A/C 0 Head.|Interaction with MLIP. Missing (in EDMD2). cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) GGACACGGGCGAAGCCAGGGT 0.647000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 5 5 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43467787 43467787 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr18:43467787C>G ENST00000282041.5 - 29 5072 c.5038G>C c.(5038-5040)Gtc>Ctc p.V1680L EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1680 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 TCATCGCTGACGTAATCCACA 0.458000 16 78 0 0 1 0 0 KCTD16 57528 broad.mit.edu 37 5 143586967 143586967 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:143586967C>G ENST00000507359.3 + 2 1781 c.690C>G c.(688-690)ttC>ttG p.F230L KCTD16_ENST00000512467.1_Missense_Mutation_p.F230L NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) ATCTCAAATTCAAGCACCTGG 0.433000 34 23 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216279617 216279617 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:216279617G>A ENST00000354785.4 - 13 2253 c.1884C>T c.(1882-1884)atC>atT p.I628I FN1_ENST00000346544.3_Silent_p.I628I|FN1_ENST00000357009.2_Silent_p.I628I|FN1_ENST00000443816.1_Silent_p.I628I|FN1_ENST00000357867.4_Silent_p.I628I|FN1_ENST00000345488.5_Silent_p.I628I|FN1_ENST00000421182.1_Silent_p.I628I|FN1_ENST00000359671.1_Silent_p.I628I|FN1_ENST00000336916.4_Silent_p.I628I|FN1_ENST00000426059.1_Silent_p.I628I|FN1_ENST00000356005.4_Silent_p.I628I|FN1_ENST00000323926.6_Silent_p.I628I|FN1_ENST00000432072.2_Silent_p.I628I|FN1_ENST00000446046.1_Silent_p.I628I P02751 FINC_HUMAN fibronectin 1 628 Fibronectin type-III 1. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CATTCCACTGGATGGGGTGGG 0.453000 33 3 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19176005 19176005 + Missense_Mutation SNP C C T rs114026861 byFrequency TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:19176005C>T ENST00000375371.3 - 4 1318 c.1297G>A c.(1297-1299)Gac>Aac p.D433N RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 433 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) ATTTGGTGGTCCAGGAGAGTG 0.562000 5 11 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 107937750 107937750 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:107937750C>G ENST00000280758.5 + 3 1852 c.1324C>G c.(1324-1326)Ctc>Gtc p.L442V BTBD11_ENST00000490090.2_Missense_Mutation_p.L442V|BTBD11_ENST00000420571.2_Missense_Mutation_p.L442V NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 442 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CCTGCAGCCCCTCAATGCCAA 0.572000 5 17 0 0 1 0 0 CLPTM1L 81037 broad.mit.edu 37 5 1335234 1335234 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:1335234G>A ENST00000320895.5 - 6 991 c.734C>T c.(733-735)tCa>tTa p.S245L CLPTM1L_ENST00000507807.1_Missense_Mutation_p.S112L|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.S245L NM_030782.3 NP_110409.2 Q96KA5 CLP1L_HUMAN CLPTM1-like 245 apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) CCGCCCCAGTGAGACCTTGTC 0.642000 18 25 0 0 1 0 0 ATN1 1822 broad.mit.edu 37 12 7046007 7046007 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:7046007A>G ENST00000356654.4 + 5 1814 c.1577A>G c.(1576-1578)cAc>cGc p.H526R ATN1_ENST00000396684.2_Missense_Mutation_p.H526R NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 526 Involved in binding BAIAP2. cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 AGCTCCCACCACGCACACCCT 0.662000 13 25 0 0 1 0 0 MMP7 4316 broad.mit.edu 37 11 102398304 102398304 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:102398304C>T ENST00000260227.4 - 3 487 c.435G>A c.(433-435)agG>agA p.R145R NM_002423.3 NP_002414.1 P09237 MMP7_HUMAN matrix metallopeptidase 7 (matrilysin, uterine) 145 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) ATACAACTTTCCTGAAATGCA 0.443000 11 57 0 0 1 0 0 KRT85 3891 broad.mit.edu 37 12 52758859 52758859 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:52758859G>A ENST00000257901.3 - 2 591 c.516C>T c.(514-516)ttC>ttT p.F172F NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 172 Coil 1B.|Rod. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TGTAGCCACTGAACAGTGGCT 0.637000 27 33 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44872468 44872468 + Silent SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:44872468G>C ENST00000326047.4 + 26 3278 c.3129G>C c.(3127-3129)ctG>ctC p.L1043L KIF15_ENST00000425755.1_Silent_p.L678L NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 1043 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) TTCTGGATCTGAAAGAAACCC 0.393000 29 70 0 0 1 0 0 HSPA4 3308 broad.mit.edu 37 5 132403208 132403208 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:132403208T>C ENST00000304858.2 + 3 554 c.265T>C c.(265-267)Tat>Cat p.Y89H NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 89 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TAACCTTGCATATGATATTGT 0.348000 16 42 0 0 1 0 0 RYK 6259 broad.mit.edu 37 3 133878181 133878181 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:133878181G>A ENST00000427044.2 - 15 1655 c.1045C>T c.(1045-1047)Ctg>Ttg p.L349L RYK_ENST00000296084.4_Silent_p.L539L P34925 RYK_HUMAN receptor-like tyrosine kinase 535 Protein kinase. corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway cytoplasm|integral to plasma membrane|nucleus ATP binding|transmembrane receptor protein tyrosine kinase activity p.L539V(1) lung(1)|ovary(3) 4 GTCTGGCCCAGAGTCATGAGT 0.522000 7 16 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45126820 45126820 + RNA SNP T T G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:45126820T>G ENST00000575173.1 - 0 418 TACCGTTCATTAAACTGCCAA 0.438000 4 93 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122667462 122667462 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:122667462G>T ENST00000195173.4 - 3 522 c.219C>A c.(217-219)agC>agA p.S73R SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000357599.3_Missense_Mutation_p.S73R|SEMA5B_ENST00000451055.2_Missense_Mutation_p.S127R Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 73 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GCAGTGTGAGGCTGGGCAGCA 0.642000 5 33 0.014758 0.014933 1 1 0 CEBPE 1053 broad.mit.edu 37 14 23586978 23586978 + Silent SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr14:23586978G>C ENST00000206513.5 - 2 1088 c.564C>G c.(562-564)tcC>tcG p.S188S NM_001805.3 NP_001796.2 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein (C/EBP), epsilon 188 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) GGCCAGCCGGGGAGGGCGCCT 0.662000 6 21 0 0 1 0 0 SMC2 10592 broad.mit.edu 37 9 106892092 106892092 + Missense_Mutation SNP G G C rs34334030 TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:106892092G>C ENST00000286398.7 + 21 3245 c.2957G>C c.(2956-2958)aGa>aCa p.R986T SMC2_ENST00000303219.8_Missense_Mutation_p.R986T|SMC2_ENST00000374787.3_Missense_Mutation_p.R986T|SMC2_ENST00000374793.3_Missense_Mutation_p.R986T NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 986 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 GTCAATATGAGAGCTATGAAT 0.383000 10 28 0 0 1 0 0 STAC3 246329 broad.mit.edu 37 12 57642507 57642507 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:57642507C>G ENST00000332782.2 - 4 615 c.414G>C c.(412-414)caG>caC p.Q138H STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Missense_Mutation_p.Q99H NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 138 intracellular signal transduction identical protein binding|metal ion binding p.Q138H(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18 CGAAGCATCTCTGCATTTCCA 0.522000 163 254 0 0 1 0 0 ITPRIPL1 150771 broad.mit.edu 37 2 96993522 96993522 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:96993522G>A ENST00000361124.4 + 1 1588 c.1177G>A c.(1177-1179)Gac>Aac p.D393N ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.D385N|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.D377N|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.D377N NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 385 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCAGGCTCCTGACCAGGAGCA 0.607000 48 1 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 83021968 83021968 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:83021968T>C ENST00000307792.3 - 14 2037 c.1570A>G c.(1570-1572)Agt>Ggt p.S524G SEMA3E_ENST00000427262.1_Missense_Mutation_p.S464G NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 524 axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) GCACAAGCACTTCCATACATG 0.498000 15 12 0 0 1 0 0 HSD17B4 3295 broad.mit.edu 37 5 118867038 118867038 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:118867038G>T ENST00000504811.1 + 23 2191 c.2007G>T c.(2005-2007)aaG>aaT p.K669N HSD17B4_ENST00000513628.1_Missense_Mutation_p.K507N|HSD17B4_ENST00000414835.2_Missense_Mutation_p.K504N|HSD17B4_ENST00000510025.1_Missense_Mutation_p.K620N|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.K626N|HSD17B4_ENST00000256216.6_Missense_Mutation_p.K644N|HSD17B4_ENST00000509514.1_Missense_Mutation_p.K382N NM_001199291.1 NP_001186220.1 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 644 SCP2. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2) 25 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) AGGTGGTGAAGAAAGTAAATG 0.403000 32 32 1.56442e-22 1.74633e-22 1 1 0 ZMIZ1 57178 broad.mit.edu 37 10 81051984 81051984 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:81051984C>T ENST00000334512.5 + 11 1400 c.828C>T c.(826-828)ttC>ttT p.F276F ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 276 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CTGCTGACTTCACTCAGCCCg 0.677000 19 55 0 0 1 0 0 RUFY3 22902 broad.mit.edu 37 4 71630291 71630291 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:71630291C>G ENST00000226328.4 + 4 1133 c.570C>G c.(568-570)ctC>ctG p.L190L RUFY3_ENST00000536664.1_Silent_p.L174L|RUFY3_ENST00000417478.2_Silent_p.L250L|RUFY3_ENST00000502653.1_Silent_p.L137L|RUFY3_ENST00000381006.3_Silent_p.L190L NM_014961.3 NP_055776.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 190 RUN. negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) AAGAACTTCTCAGGTATGAAC 0.353000 4 17 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:37868208C>T ENST00000406381.2 + 10 1349 c.839C>T c.(838-840)tCc>tTc p.S280F ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 310 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S310F(6)|p.S310Y(1) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GACGTGGGATCCTGCACCCTC 0.582000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 71 66 0 0 1 0 0 FHL5 9457 broad.mit.edu 37 6 97053892 97053892 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:97053892A>G ENST00000326771.2 + 5 829 c.449A>G c.(448-450)tAt>tGt p.Y150C FHL5_ENST00000541107.1_Missense_Mutation_p.Y150C NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 150 LIM zinc-binding 2. nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) AGTGGCAATTATTGTGTGCCA 0.398000 11 24 0 0 1 0 0 ANKRD10 55608 broad.mit.edu 37 13 111532220 111532220 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr13:111532220C>G ENST00000267339.2 - 6 1161 c.1027G>C c.(1027-1029)Gag>Cag p.E343Q ANKRD10_ENST00000375758.5_3'UTR NM_017664.2 NP_060134.2 Q9NXR5 ANR10_HUMAN ankyrin repeat domain 10 343 central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3) 9 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208) CCGCACAACTCAGGGTTAGCT 0.547000 10 96 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86041597 86041597 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr8:86041597C>A ENST00000414626.2 + 9 2438 c.1549C>A c.(1549-1551)Cag>Aag p.Q517K LRRCC1_ENST00000360375.3_Missense_Mutation_p.Q537K Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 537 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 ACAAAAAAGGCAGCAGCAGGC 0.343000 16 58 5.3912e-06 5.6256e-06 1 1 0 OR5V1 81696 broad.mit.edu 37 6 29323562 29323562 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:29323562G>C ENST00000377154.1 - 4 710 c.411C>G c.(409-411)agC>agG p.S137R OR5V1_ENST00000543825.1_Missense_Mutation_p.S137R Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATAGAACCTTGCTCAGAATAA 0.443000 12 43 0 0 1 0 0 ZNF619 285267 broad.mit.edu 37 3 40529641 40529641 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:40529641C>T ENST00000447116.2 + 6 2067 c.1760C>T c.(1759-1761)tCa>tTa p.S587L ZNF619_ENST00000314686.5_Missense_Mutation_p.S531L|ZNF619_ENST00000432264.2_Missense_Mutation_p.S547L|ZNF619_ENST00000429348.2_Missense_Mutation_p.S547L|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Missense_Mutation_p.S503L|ZNF619_ENST00000522736.1_Missense_Mutation_p.S538L|ZNF619_ENST00000521353.1_Missense_Mutation_p.S587L NM_001145082.2 NP_001138554.1 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 587 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GCCAACCCTTCACCTGTCCAA 0.522000 8 52 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35454887 35454887 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:35454887C>G ENST00000353139.5 - 53 7079 c.6598G>C c.(6598-6600)Gag>Cag p.E2200Q ACACA_ENST00000335166.5_Missense_Mutation_p.E2085Q|ACACA_ENST00000361253.5_Missense_Mutation_p.E289Q|ACACA_ENST00000360679.3_Missense_Mutation_p.E2105Q|ACACA_ENST00000394406.2_Missense_Mutation_p.E2163Q NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 2163 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TTCTCCAACTCCTTCCGCTCA 0.512000 28 77 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963371 88963371 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:88963371C>T ENST00000333190.4 + 4 1684 c.1075C>T c.(1075-1077)Cac>Tac p.H359Y NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 359 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTGTGTTAATCACCCATGCCA 0.378000 HNSCC(36;0.09) 4 25 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102503375 102503375 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:102503375G>A ENST00000369138.1 + 15 2972 c.2482G>A c.(2482-2484)Gca>Aca p.A828T GRIK2_ENST00000413795.1_Missense_Mutation_p.A828T|GRIK2_ENST00000318991.6_Missense_Mutation_p.A828T|GRIK2_ENST00000369137.3_Missense_Mutation_p.A752T|GRIK2_ENST00000369134.4_Missense_Mutation_p.A779T|GRIK2_ENST00000421544.1_Missense_Mutation_p.A828T NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 828 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) CATTGTTCTGGCAGCCGGCTT 0.458000 16 59 0 0 1 0 0 CPA4 51200 broad.mit.edu 37 7 129933089 129933089 + Splice_Site SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:129933089G>A ENST00000222482.4 + 1 96 c.e1+1 CPA4_ENST00000493259.1_Splice_Site|CPA4_ENST00000445470.2_Splice_Site NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) AATTTTTTGGGTAAGTTCCTT 0.433000 16 51 0 0 1 0 0 GPR115 221393 broad.mit.edu 37 6 47680203 47680203 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:47680203G>C ENST00000283303.2 + 5 669 c.411G>C c.(409-411)aaG>aaC p.K137N GPR115_ENST00000371220.1_Missense_Mutation_p.K194N|GPR115_ENST00000327753.3_Missense_Mutation_p.K137N NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 137 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GAATCCGTAAGAACTGCCCCT 0.403000 15 75 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156813228 156813228 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:156813228C>T ENST00000368195.3 - 16 3283 c.2887G>A c.(2887-2889)Gcc>Acc p.A963T NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 963 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTATCAGAGGCGCTGAAGTAC 0.537000 93 42 0 0 1 0 0 ZNF45 7596 broad.mit.edu 37 19 44418666 44418666 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:44418666C>G ENST00000269973.5 - 10 2012 c.922G>C c.(922-924)Gag>Cag p.E308Q RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.E308Q NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 308 multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 TTCCCACACTCTTCACACTTA 0.463000 5 47 0 0 1 0 0 FAM134A 79137 broad.mit.edu 37 2 220047172 220047172 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:220047172G>C ENST00000430297.2 + 9 1589 c.1453G>C c.(1453-1455)Gag>Cag p.E485Q NM_024293.4 NP_077269.3 Q8NC44 F134A_HUMAN family with sequence similarity 134, member A 485 Poly-Glu. endoplasmic reticulum|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGAGGAAGAAGAGGCACTCAC 0.612000 10 31 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133995659 133995659 + Splice_Site SNP T T A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr8:133995659T>A ENST00000220616.4 + 35 6302 c.e35+2 TG_ENST00000522523.1_Splice_Site|TG_ENST00000377869.1_Splice_Site|TG_ENST00000519543.1_Intron|TG_ENST00000542445.1_Splice_Site NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CAGAGAAAGGTAAGTTCATTG 0.403000 22 93 0 0 1 0 0 STAC3 246329 broad.mit.edu 37 12 57638328 57638328 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:57638328C>G ENST00000332782.2 - 9 999 c.798G>C c.(796-798)ctG>ctC p.L266L STAC3_ENST00000546246.2_Silent_p.L80L|STAC3_ENST00000554578.1_Silent_p.L227L NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 266 SH3 1. intracellular signal transduction identical protein binding|metal ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18 ACGGGAAATCCAGATCGTCCT 0.577000 21 157 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30982751 30982751 + Silent SNP A A T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:30982751A>T ENST00000262519.8 + 13 3755 c.3069A>T c.(3067-3069)tcA>tcT p.S1023S NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1023 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 ATGCTGACTCAGATGGCGAAA 0.547000 20 69 0 0 1 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186946901 186946901 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:186946901C>G ENST00000367466.3 + 16 2093 c.1941C>G c.(1939-1941)ttC>ttG p.F647L PLA2G4A_ENST00000442353.2_Missense_Mutation_p.F587L NM_024420.2 NP_077734 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 647 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) ACATCAACTTCAGAAAGTACA 0.423000 55 5 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69682209 69682209 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:69682209C>G ENST00000265403.7 + 1 499 c.472C>G c.(472-474)Ctg>Gtg p.L158V UGT2B10_ENST00000458688.2_Intron NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 158 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 CTGTGGTGAGCTGCTGGCTGA 0.393000 22 73 0 0 1 0 0 OR51E1 143503 broad.mit.edu 37 11 4673913 4673913 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:4673913C>T ENST00000396952.5 + 2 807 c.157C>T c.(157-159)Cgg>Tgg p.R53W OR51E1_ENST00000530215.1_Intron NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) CTACATTGTGCGGACTGAGCA 0.488000 3 24 0 0 1 0 0 LRFN3 79414 broad.mit.edu 37 19 36430342 36430342 + Silent SNP G G T rs143250868 byFrequency TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:36430342G>T ENST00000588831.1 + 3 1069 c.15G>T c.(13-15)ccG>ccT p.P5P LRFN3_ENST00000246529.3_Silent_p.P5P Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 5 cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCATCCTCCCGTTGCTCCTGT 0.701000 22 18 4.06085e-26 4.55289e-26 1 1 0 RNF17 56163 broad.mit.edu 37 13 25448250 25448250 + Splice_Site SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr13:25448250A>G ENST00000255324.5 + 33 4499 c.e33-1 RNF17_ENST00000339524.3_Splice_Site|RNF17_ENST00000381921.1_Splice_Site NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CTGTCTTTCCAGAAATGCCTT 0.328000 40 42 0 0 1 0 0 FAM219B 57184 broad.mit.edu 37 15 75197510 75197510 + Missense_Mutation SNP G G T rs138405677 TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr15:75197510G>T ENST00000357635.5 - 3 685 c.365C>A c.(364-366)tCc>tAc p.S122Y FAM219B_ENST00000563119.1_Missense_Mutation_p.S122Y|FAM219B_ENST00000457294.2_Missense_Mutation_p.S122Y|FAM219B_ENST00000565772.1_Missense_Mutation_p.S36Y|FAM219B_ENST00000563706.1_5'UTR NM_020447.3 NP_065180.1 Q5XKK7 CO017_HUMAN family with sequence similarity 219, member B 122 cytochrome-c oxidase activity AGAGTCGAGGGACACCAGGTT 0.527000 16 7 6.31663e-08 6.76593e-08 1 1 0 CHMP4A 29082 broad.mit.edu 37 14 24682657 24682657 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr14:24682657C>G ENST00000347519.6 - 1 418 c.118G>C c.(118-120)Ggc>Cgc p.G40R TM9SF1_ENST00000556387.1_5'UTR|TM9SF1_ENST00000530611.1_5'UTR|CHMP4A_ENST00000609024.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000530996.1_5'UTR NM_014169.3 NP_054888.2 charged multivesicular body protein 4A NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1) 9 GBM - Glioblastoma multiforme(265;0.0181) GCGAGCTCGCCTCTCCCGCCT 0.667000 7 11 0 0 1 0 0 HLA-C 3107 broad.mit.edu 37 6 31239461 31239461 + Silent SNP C C G rs61759940 TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:31239461C>G ENST00000383329.3 - 2 272 c.258G>C c.(256-258)cgG>cgC p.R86R HLA-C_ENST00000376228.5_Silent_p.R86R Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 86 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 TCTGTGTCTCCCGGTCCCAAT 0.682000 11 36 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 6 49 0 0 1 0 0 OR52I1 390037 broad.mit.edu 37 11 4615891 4615891 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:4615891C>G ENST00000450052.2 + 2 695 c.695C>G c.(694-696)tCt>tGt p.S232C OR52I1_ENST00000530443.2_Missense_Mutation_p.S208C Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ATTGGTTCCTCTCTTATGGTG 0.488000 13 38 0 0 1 0 0 CHAF1B 8208 broad.mit.edu 37 21 37785421 37785421 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr21:37785421C>G ENST00000314103.5 + 12 1452 c.1301C>G c.(1300-1302)cCc>cGc p.P434R NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 GGCACGACTCCCCCTCAGGCC 0.647000 6 22 0 0 1 0 0 NCOA5 57727 broad.mit.edu 37 20 44698968 44698968 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr20:44698968C>G ENST00000290231.6 - 3 410 c.246G>C c.(244-246)cgG>cgC p.R82R NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 82 Arg/Asp-rich (mixed charge).|Transcription repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) CCCTCACGTCCCGAACGTCGC 0.527000 18 58 0 0 1 0 0 APOL4 80832 broad.mit.edu 37 22 36587753 36587753 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr22:36587753G>A ENST00000332987.1 - 7 836 c.414C>T c.(412-414)atC>atT p.I138I APOL4_ENST00000352371.1_Silent_p.I141I|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000479929.1_5'UTR Q9BPW4 APOL4_HUMAN apolipoprotein L, 4 142 lipid metabolic process|lipid transport|lipoprotein metabolic process extracellular region lipid binding lung(1) 1 CCACATTGGCGATGACGCAGC 0.493000 7 51 0 0 1 0 0 RANGAP1 5905 broad.mit.edu 37 22 41657461 41657461 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr22:41657461C>G ENST00000455915.2 - 5 2073 c.604G>C c.(604-606)Gaa>Caa p.E202Q RANGAP1_ENST00000407260.4_Intron|RANGAP1_ENST00000405486.1_Missense_Mutation_p.E202Q|RANGAP1_ENST00000356244.3_Missense_Mutation_p.E202Q P46060 RAGP1_HUMAN Ran GTPase activating protein 1 202 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CTAAAAGCTTCTGCCAAGGCA 0.567000 12 42 0 0 1 0 0 DEGS1 8560 broad.mit.edu 37 1 224377888 224377888 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:224377888C>T ENST00000323699.4 + 2 858 c.692C>T c.(691-693)gCt>gTt p.A231V DEGS1_ENST00000391877.3_Missense_Mutation_p.A231V NM_003676.3 NP_003667.1 O15121 DEGS1_HUMAN delta(4)-desaturase, sphingolipid 1 231 sphingolipid metabolic process|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity breast(1)|kidney(3)|large_intestine(2)|lung(4) 10 Breast(184;0.193) GBM - Glioblastoma multiforme(131;0.00643) CATTTTATAGCTGAGCATTAC 0.343000 21 99 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61537421 61537421 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr20:61537421C>G ENST00000266070.4 - 6 1731 c.1406G>C c.(1405-1407)aGa>aCa p.R469T DIDO1_ENST00000395343.1_Missense_Mutation_p.R469T|DIDO1_ENST00000370368.1_Missense_Mutation_p.R469T|DIDO1_ENST00000370366.1_Missense_Mutation_p.R469T|DIDO1_ENST00000266071.5_Missense_Mutation_p.R469T|DIDO1_ENST00000395340.1_Missense_Mutation_p.R469T|DIDO1_ENST00000395335.2_Missense_Mutation_p.R469T|DIDO1_ENST00000370371.4_Missense_Mutation_p.R469T|DIDO1_ENST00000354665.4_Missense_Mutation_p.R469T NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 469 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TGGAGCTGGTCTCTTGTGCAC 0.458000 70 5 0 0 1 0 0 TRMT1L 81627 broad.mit.edu 37 1 185125831 185125831 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:185125831G>C ENST00000367506.5 - 1 282 c.14C>G c.(13-15)gCg>gGg p.A5G TRMT1L_ENST00000367504.3_5'UTR NM_001202423.1|NM_030934.4 NP_001189352.1|NP_112196.3 Q7Z2T5 TRM1L_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae)-like 5 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 21 CTCCTCCTCCGCCATATTCTC 0.711000 5 15 0 0 1 0 0 PON1 5444 broad.mit.edu 37 7 94947686 94947686 + Nonsense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:94947686G>A ENST00000222381.3 - 2 325 c.94C>T c.(94-96)Cga>Tga p.R32* PON1_ENST00000542556.1_Intron NM_000446.5 NP_000437.3 P27169 PON1_HUMAN paraoxonase 1 32 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) TGTACCTCTCGGAGAGCATTA 0.383000 11 45 0 0 1 0 0 PPAP2B 8613 broad.mit.edu 37 1 56990055 56990055 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:56990055G>A ENST00000371250.3 - 3 1020 c.469C>T c.(469-471)Cac>Tac p.H157Y NM_003713.4 NP_003704.3 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 157 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process adherens junction|Golgi apparatus|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 CTCAAGAAGTGAGGACGCAGG 0.512000 15 78 0 0 1 0 0 PDSS2 57107 broad.mit.edu 37 6 107780456 107780456 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:107780456G>C ENST00000369037.4 - 1 311 c.34C>G c.(34-36)Cgt>Ggt p.R12G PDSS2_ENST00000453874.2_Missense_Mutation_p.R12G|PDSS2_ENST00000369031.4_Missense_Mutation_p.R12G NM_020381.3 NP_065114.3 Q86YH6 DLP1_HUMAN prenyl (decaprenyl) diphosphate synthase, subunit 2 12 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion protein heterodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3) 19 Breast(9;0.0127) all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211) BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243) BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191) CCAAGATAACGTGGCAAGTGC 0.622000 OREG0017595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 35 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56574880 56574880 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:56574880G>A ENST00000394023.3 - 11 1067 c.962C>T c.(961-963)tCa>tTa p.S321L SMARCC2_ENST00000347471.4_Missense_Mutation_p.S321L|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.S321L|SMARCC2_ENST00000550164.1_Missense_Mutation_p.S321L NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 321 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) GTAAGGTGTTGAGGGACTGGG 0.502000 7 48 0 0 1 0 0 MELK 9833 broad.mit.edu 37 9 36643017 36643017 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:36643017C>T ENST00000543751.1 + 10 907 c.762C>T c.(760-762)tgC>tgT p.C254C MELK_ENST00000545008.1_Silent_p.C215C|MELK_ENST00000538311.1_Silent_p.C92C|MELK_ENST00000298048.2_Silent_p.C286C|MELK_ENST00000536987.1_Silent_p.C155C|MELK_ENST00000536329.1_Silent_p.C215C|MELK_ENST00000541717.1_Silent_p.C286C|MELK_ENST00000536860.1_Silent_p.C238C NM_001256689.1 NP_001243618.1 Q14680 MELK_HUMAN maternal embryonic leucine zipper kinase 286 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity p.C286C(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06) STAD - Stomach adenocarcinoma(86;0.228) ATGATGATTGCGTAACAGAAC 0.333000 15 30 0 0 1 0 0 GART 2618 broad.mit.edu 37 21 34876554 34876554 + Silent SNP T T G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr21:34876554T>G ENST00000381831.3 - 22 3173 c.2910A>C c.(2908-2910)gcA>gcC p.A970A GART_ENST00000381815.4_Silent_p.A970A|GART_ENST00000543717.1_Silent_p.A522A|GART_ENST00000381839.3_Silent_p.A970A NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 970 GART. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) CAGAAAGAGTTGCGACAGTAT 0.423000 10 70 0 0 1 0 0 AGAP8 728404 broad.mit.edu 37 10 51225487 51225487 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:51225487C>T ENST00000602930.1 - 9 1996 c.1447G>A c.(1447-1449)Gat>Aat p.D483N AGAP8_ENST00000425119.2_Missense_Mutation_p.D499N NM_001276343.1 NP_001263272.1 Q5SRD3 AGAP8_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 499 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding breast(1)|endometrium(1)|lung(2)|ovary(2) 6 GGCCAGTCATCCAGCTCCAGA 0.542000 101 74 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49209657 49209657 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr20:49209657G>A ENST00000327979.2 - 18 2688 c.2277C>T c.(2275-2277)atC>atT p.I759I FAM65C_ENST00000045083.2_Silent_p.I759I|FAM65C_ENST00000535356.1_Silent_p.I763I Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 759 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACCAGGTAATGATCTGTTCTT 0.597000 20 56 0 0 1 0 0 LRIT3 345193 broad.mit.edu 37 4 110791056 110791056 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:110791056C>T ENST00000327908.3 + 4 1366 c.602C>T c.(601-603)tCa>tTa p.S201L LRIT3_ENST00000409621.2_Missense_Mutation_p.S201L|LRIT3_ENST00000379920.3_Missense_Mutation_p.S339L|LRIT3_ENST00000594814.1_Missense_Mutation_p.S384L Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 339 LRRCT. integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) AGCGCATCATCATATCTTTGG 0.468000 31 68 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20482441 20482441 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:20482441G>A ENST00000573854.1 + 5 757 c.643G>A c.(643-645)Gca>Aca p.A215T ACSM2A_ENST00000575690.1_Missense_Mutation_p.A215T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A215T|ACSM2A_ENST00000536134.1_Intron|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A136T|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A215T NM_001010845.2 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 215 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 AAGCCAGGAAGCATCTGCCAT 0.512000 8 28 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36221702 36221702 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:36221702G>C ENST00000222270.7 + 26 5371 c.5371G>C c.(5371-5373)Gag>Cag p.E1791Q KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.E1791Q NM_014727.1 NP_055542.1 lysine (K)-specific methyltransferase 2B GCCGAGGGAAGAGCCAGCTCA 0.612000 3 20 0 0 1 0 0 SLC16A9 220963 broad.mit.edu 37 10 61413839 61413839 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:61413839G>A ENST00000395348.3 - 5 1581 c.945C>T c.(943-945)ctC>ctT p.L315L SLC16A9_ENST00000395347.1_Silent_p.L315L NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 315 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 CGATGTCAAAGAGTAAGATAG 0.358000 23 38 0 0 1 0 0 KRTAP10-7 386675 broad.mit.edu 37 21 46021208 46021208 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr21:46021208C>G ENST00000380102.2 + 1 712 c.687C>G c.(685-687)tgC>tgG p.C229W TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 229 30 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 CCTCCCCCTGCCAGCAGGCCT 0.652000 39 139 0 0 1 0 0 U2AF2 11338 broad.mit.edu 37 19 56172438 56172438 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:56172438C>T ENST00000450554.2 + 5 1328 c.369C>T c.(367-369)ccC>ccT p.P123P U2AF2_ENST00000308924.4_Silent_p.P123P NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 123 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CTCTTCTCCCCACCATGACCC 0.612000 12 34 0 0 1 0 0 PRDM4 11108 broad.mit.edu 37 12 108128143 108128143 + Silent SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:108128143T>C ENST00000228437.5 - 12 2709 c.2250A>G c.(2248-2250)aaA>aaG p.K750K NM_012406.3 NP_036538.3 Q9UKN5 PRDM4_HUMAN PR domain containing 4 750 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 CTTTGCAGGTTTTCAGGTGGC 0.463000 39 175 0 0 1 0 0 ZNF496 84838 broad.mit.edu 37 1 247464500 247464500 + Missense_Mutation SNP T T G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:247464500T>G ENST00000294753.4 - 9 1549 c.1085A>C c.(1084-1086)gAc>gCc p.D362A ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.D398A NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 362 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) GGAGTCCTCGTCCCCAGAGCT 0.632000 5 28 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58139224 58139224 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:58139224G>A ENST00000295956.4 + 39 6655 c.6490G>A c.(6490-6492)Gtg>Atg p.V2164M FLNB_ENST00000358537.3_Missense_Mutation_p.V2140M|FLNB_ENST00000429972.2_Missense_Mutation_p.V2153M|FLNB_ENST00000419752.2_Missense_Mutation_p.V1984M|FLNB_ENST00000490882.1_Missense_Mutation_p.V2195M|FLNB_ENST00000493452.1_Missense_Mutation_p.V1971M|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.V2123M NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2164 Interaction with FLNA 1.|Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GGAGATGGGCGTGCACACGGT 0.652000 3 28 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480424 140480424 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:140480424C>A ENST00000231130.2 + 1 191 c.191C>A c.(190-192)gCc>gAc p.A64D AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 64 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGAGGGGGGCCCAAGTTGTG 0.507000 22 22 5.35356e-11 5.8237e-11 1 1 0 HUWE1 10075 broad.mit.edu 37 X 53595718 53595718 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chrX:53595718C>T ENST00000342160.3 - 48 7098 c.6641G>A c.(6640-6642)cGg>cAg p.R2214Q HUWE1_ENST00000262854.6_Missense_Mutation_p.R2214Q Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2214 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CAGGAAAAGCCGAATGATGTT 0.517000 4 0 0 0 1 0 0 MBD1 4152 broad.mit.edu 37 18 47800672 47800672 + Missense_Mutation SNP A A T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr18:47800672A>T ENST00000591416.1 - 11 1461 c.1030T>A c.(1030-1032)Tgc>Agc p.C344S MBD1_ENST00000588937.1_Missense_Mutation_p.C321S|MBD1_ENST00000590208.1_Missense_Mutation_p.C344S|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000382948.5_Missense_Mutation_p.C344S|MBD1_ENST00000585672.1_Missense_Mutation_p.C294S|MBD1_ENST00000269468.5_Missense_Mutation_p.C344S|MBD1_ENST00000591535.1_Missense_Mutation_p.C321S|MBD1_ENST00000457839.2_Missense_Mutation_p.C369S|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000339998.6_Missense_Mutation_p.C344S|MBD1_ENST00000353909.3_Missense_Mutation_p.C295S|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000269471.5_Missense_Mutation_p.C321S|MBD1_ENST00000398495.2_Intron|MBD1_ENST00000585595.1_Missense_Mutation_p.C369S|MBD1_ENST00000424334.2_Missense_Mutation_p.C395S|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000436910.1_Missense_Mutation_p.C321S|MBD1_ENST00000398493.1_Intron Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 344 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 CGCCGTAGGCAGGCTGCACAG 0.647000 18 18 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28993509 28993509 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr18:28993509C>A ENST00000359747.4 + 15 3160 c.3131C>A c.(3130-3132)tCt>tAt p.S1044Y RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.S1025Y NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 1025 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCCATGACATCTCGACACAGA 0.443000 14 51 7.93312e-07 8.40364e-07 1 1 0 PRICKLE3 4007 broad.mit.edu 37 X 49040353 49040353 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chrX:49040353C>T ENST00000376317.3 - 3 240 c.146G>A c.(145-147)tGc>tAc p.C49Y PRICKLE3_ENST00000376310.3_Missense_Mutation_p.C49Y|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.C49Y|PRICKLE3_ENST00000536904.1_5'UTR|PRICKLE3_ENST00000540849.1_5'UTR NM_006150.3 NP_006141.2 O43900 PRIC3_HUMAN prickle homolog 3 (Drosophila) 49 protein binding|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2) 22 CGGGCATTTGCAATGCTGGCA 0.622000 8 8 0 0 1 0 0 PCBD2 84105 broad.mit.edu 37 5 134296290 134296290 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:134296290C>T ENST00000512783.1 + 4 332 c.312C>T c.(310-312)ctC>ctT p.L104L PCBD2_ENST00000254908.6_Silent_p.L104L Q9H0N5 PHS2_HUMAN pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2 104 positive regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process 4-alpha-hydroxytetrahydrobiopterin dehydratase activity|protein binding kidney(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGATAACTCTCACCTCACATG 0.368000 19 19 0 0 1 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123706055 123706055 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:123706055C>G ENST00000606320.1 - 5 942 c.736G>C c.(736-738)Gag>Cag p.E246Q MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E94Q|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E216Q|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E94Q Q99550 MPP9_HUMAN M-phase phosphoprotein 9 94 M phase of mitotic cell cycle centriole|Golgi membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TAAAAATTCTCATTTTTCACA 0.398000 69 40 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90079731 90079731 + Silent SNP A A C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:90079731A>C ENST00000405460.2 + 67 13606 c.13510A>C c.(13510-13512)Aga>Cga p.R4504R GPR98_ENST00000425867.2_Silent_p.R165R NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4504 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CCTAGTGAGCAGAATCATAAT 0.428000 8 5 0 0 1 0 0 ELAVL3 1995 broad.mit.edu 37 19 11569274 11569274 + Splice_Site SNP T T A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:11569274T>A ENST00000359227.3 - 4 910 c.486A>T c.(484-486)acA>acT p.T162T ELAVL3_ENST00000438662.2_Splice_Site_p.T162T NM_001420.3|NM_032281.2 NP_001411.2|NP_115657.2 Q14576 ELAV3_HUMAN ELAV like neuron-specific RNA binding protein 3 162 RRM 2. cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 CTGCCTGACCTGTGACCTGGT 0.632000 13 36 0 0 1 0 0 DEC1 50514 broad.mit.edu 37 9 118163570 118163570 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:118163570C>G ENST00000374016.1 + 7 705 c.186C>G c.(184-186)ccC>ccG p.P62P NM_017418.2 NP_059114.1 Q9P2X7 DEC1_HUMAN deleted in esophageal cancer 1 62 negative regulation of cell proliferation kidney(1)|large_intestine(1)|ovary(1) 3 TTGCCAGGCCCAAGGCTGCAG 0.418000 5 29 0 0 1 0 0 ZNF611 81856 broad.mit.edu 37 19 53208437 53208437 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:53208437C>G ENST00000543227.1 - 6 2145 c.1871G>C c.(1870-1872)tGt>tCt p.C624S ZNF611_ENST00000540744.1_Missense_Mutation_p.C624S|ZNF611_ENST00000319783.1_Missense_Mutation_p.C624S|ZNF611_ENST00000595798.1_Missense_Mutation_p.C555S|ZNF611_ENST00000602162.1_Missense_Mutation_p.C555S|ZNF611_ENST00000453741.2_Missense_Mutation_p.C555S NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 624 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) ACACTCATTACACTTGTAAGG 0.423000 4 151 0 0 1 0 0 OR2J3 442186 broad.mit.edu 37 6 29080494 29080494 + Missense_Mutation SNP T T A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:29080494T>A ENST00000377169.1 + 1 827 c.827T>A c.(826-828)tTc>tAc p.F276Y NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 CAAGGCAAGTTCATTGCCCTC 0.443000 28 43 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53663738 53663738 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:53663738G>A ENST00000257934.4 + 3 1103 c.1012G>A c.(1012-1014)Gag>Aag p.E338K ESPL1_ENST00000552462.1_Missense_Mutation_p.E338K NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 338 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 GGCATTGTATGAGAGCTGCCA 0.542000 25 38 0 0 1 0 0 ZNF189 7743 broad.mit.edu 37 9 104170442 104170442 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:104170442G>C ENST00000374861.3 + 3 634 c.350G>C c.(349-351)aGa>aCa p.R117T ZNF189_ENST00000259395.4_Missense_Mutation_p.R89T|ZNF189_ENST00000339664.2_Missense_Mutation_p.R131T NM_001278231.1|NM_001278232.1|NM_003452.2 NP_001265160.1|NP_001265161.1|NP_003443.2 O75820 ZN189_HUMAN zinc finger protein 189 131 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) AGAATGTTCAGAGAAAACACT 0.388000 11 8 0 0 1 0 0 RTN4 57142 broad.mit.edu 37 2 55254622 55254622 + Splice_Site SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:55254622C>T ENST00000337526.6 - 3 857 c.e3-1 RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Splice_Site|RTN4_ENST00000394611.2_Splice_Site|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Splice_Site|RTN4_ENST00000404909.1_Splice_Site|RTN4_ENST00000354474.6_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 TCCATATTTTCTGTGACCATG 0.418000 18 9 0 0 1 0 0 TDRKH 11022 broad.mit.edu 37 1 151748297 151748297 + Splice_Site SNP T T G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:151748297T>G ENST00000368822.1 - 9 1914 c.1281A>C c.(1279-1281)tcA>tcC p.S427S TDRKH_ENST00000368824.3_Splice_Site_p.S427S|TDRKH_ENST00000458431.2_Splice_Site_p.S427S|TDRKH_ENST00000440583.2_Splice_Site_p.S203S|TDRKH_ENST00000368823.1_Splice_Site_p.S423S|TDRKH_ENST00000368827.6_Splice_Site_p.S427S|TDRKH_ENST00000368825.3_Splice_Site_p.S382S Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 427 RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CCAATTTACCTGAGGGAGCAA 0.403000 40 234 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74288236 74288236 + Nonsense_Mutation SNP G G A rs140261388 byFrequency TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:74288236G>A ENST00000262765.5 - 4 2253 c.2074C>T c.(2074-2076)Cag>Tag p.Q692* NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 692 Gln-rich. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 aaaccacgctgatctgcacca 0.552000 24 79 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123917099 123917099 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:123917099G>A ENST00000373855.1 + 27 4533 c.4273G>A c.(4273-4275)Gag>Aag p.E1425K CNTRL_ENST00000238341.5_Missense_Mutation_p.E1425K|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373847.1_Missense_Mutation_p.E873K|CNTRL_ENST00000373850.1_Missense_Mutation_p.E873K Q7Z7A1 CNTRL_HUMAN centriolin 1425 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 TGAGTGCATTGAGAAGACTCT 0.408000 5 33 0 0 1 0 0 UPF3A 65110 broad.mit.edu 37 13 115057172 115057172 + Nonsense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr13:115057172G>T ENST00000375299.3 + 7 807 c.751G>T c.(751-753)Gaa>Taa p.E251* UPF3A_ENST00000351487.5_Nonsense_Mutation_p.E218*|UPF3A_ENST00000475218.2_3'UTR NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 251 mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) acgtttgcgggaagaggaaaa 0.383000 84 47 4.8811e-34 5.51277e-34 1 1 0 MYCBP2 23077 broad.mit.edu 37 13 77759261 77759261 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr13:77759261C>T ENST00000407578.2 - 32 4962 c.4696G>A c.(4696-4698)Gat>Aat p.D1566N MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.D1528N|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D1528N NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 1528 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTCAGCAGATCACAAAGGCAA 0.363000 4 32 0 0 1 0 0 ACTA2 59 broad.mit.edu 37 10 90697844 90697844 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:90697844G>C ENST00000458208.1 - 8 1438 c.964C>G c.(964-966)Cta>Gta p.L322V STAMBPL1_ENST00000371927.3_Intron|ACTA2-AS1_ENST00000437930.4_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.L322V NM_001141945.1 NP_001135417.1 P62736 ACTA_HUMAN actin, alpha 2, smooth muscle, aorta 322 response to virus cytosol ATP binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2) 17 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) CTGGGTGCTAGGGCCGTGATC 0.517000 12 45 0 0 1 0 0 RECK 8434 broad.mit.edu 37 9 36117011 36117011 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:36117011C>A ENST00000377966.3 + 17 2656 c.2090C>A c.(2089-2091)aCg>aAg p.T697K NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 697 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) GTCTGCCTGACGACTTTTGAT 0.502000 13 59 2.23348e-06 2.34975e-06 1 1 0 MCHR1 2847 broad.mit.edu 37 22 41077836 41077836 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr22:41077836G>C ENST00000249016.4 + 2 1869 c.1173G>C c.(1171-1173)ttG>ttC p.L391F MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.L265F NM_005297.3 NP_005288.3 Q99705 MCHR1_HUMAN melanin-concentrating hormone receptor 1 391 elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1) 20 GCAAACGCTTGGTCCTGTCGG 0.562000 24 58 0 0 1 0 0 TARDBP 23435 broad.mit.edu 37 1 11078795 11078795 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:11078795G>A ENST00000240185.3 + 4 522 c.408G>A c.(406-408)aaG>aaA p.K136K TARDBP_ENST00000439080.2_Silent_p.K20K|TARDBP_ENST00000315091.3_Silent_p.K136K NM_007375.3 NP_031401.1 Q13148 TADBP_HUMAN TAR DNA binding protein 136 RRM 1. 3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2) 11 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0578) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487) TCTAGGTCAAGAAAGATCTTA 0.363000 61 29 0 0 1 0 0 PTX3 5806 broad.mit.edu 37 3 157160668 157160668 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:157160668G>A ENST00000295927.3 + 3 1191 c.1046G>A c.(1045-1047)aGa>aAa p.R349K VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron NM_002852.3 NP_002843.2 P26022 PTX3_HUMAN pentraxin 3, long 349 Pentaxin. inflammatory response extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1) 10 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) GAAGAGATAAGAGAGACCGGA 0.493000 43 12 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13393427 13393427 + Silent SNP G G C rs147811711 TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:13393427G>C ENST00000254508.5 - 20 2869 c.2787C>G c.(2785-2787)acC>acG p.T929T NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 929 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) CAACATCTGCGGTGCTGGTGT 0.602000 27 4 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101020669 101020669 + Silent SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr8:101020669A>G ENST00000360863.6 - 15 2489 c.2295T>C c.(2293-2295)taT>taC p.Y765Y RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Silent_p.Y753Y|RGS22_ENST00000523287.1_Silent_p.Y584Y NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 765 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) GGAGAAGGATATATTCCTCTG 0.393000 59 71 0 0 1 0 0 RNF121 55298 broad.mit.edu 37 11 71707249 71707249 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:71707249G>A ENST00000361756.3 + 9 1233 c.872G>A c.(871-873)aGg>aAg p.R291K RNF121_ENST00000530137.1_Missense_Mutation_p.R259K|RNF121_ENST00000533380.1_Missense_Mutation_p.R131K|RNF121_ENST00000545854.1_Missense_Mutation_p.R210K|RNF121_ENST00000393713.3_3'UTR NM_018320.4 NP_060790.2 Q9H920 RN121_HUMAN ring finger protein 121 291 integral to membrane zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1) 13 AGCTGGGAGAGGCCTCACGTC 0.542000 7 32 0 0 1 0 0 S1PR4 8698 broad.mit.edu 37 19 3179476 3179476 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:3179476T>C ENST00000246115.3 + 1 741 c.686T>C c.(685-687)cTg>cCg p.L229P S1PR4_ENST00000591346.1_3'UTR NM_003775.3 NP_003766.1 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 229 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 ATCTTCCGCCTGGTGCAGGCC 0.672000 39 43 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18061060 18061060 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:18061060G>C ENST00000205890.5 + 51 9151 c.8813G>C c.(8812-8814)gGg>gCg p.G2938A MYO15A_ENST00000418233.3_Missense_Mutation_p.G202A NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2938 SH3.|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) ACCATCCACGGGCGCGTGGGC 0.657000 9 10 0 0 1 0 0 HTR6 3362 broad.mit.edu 37 1 20005562 20005562 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:20005562C>G ENST00000289753.1 + 3 1491 c.1024C>G c.(1024-1026)Cgg>Ggg p.R342G NM_000871.1 NP_000862.1 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled 342 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) ACGCTGTCCCCGGGAGCGCCA 0.672000 4 16 0 0 1 0 0 CSRNP2 81566 broad.mit.edu 37 12 51461711 51461711 + Silent SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:51461711G>C ENST00000228515.1 - 4 750 c.453C>G c.(451-453)ggC>ggG p.G151G NM_030809.2 NP_110436.1 Q9H175 CSRN2_HUMAN cysteine-serine-rich nuclear protein 2 151 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 14 CCAGCGTCAGGCCATCAGCCT 0.537000 14 41 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138437391 138437391 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:138437391C>A ENST00000310018.2 - 11 1290 c.1008G>T c.(1006-1008)aaG>aaT p.K336N ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.K336N|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.K336N NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 336 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CCAGTGCCCTCTTGATACGTG 0.602000 3 17 0.150653 0.151442 1 1 0 DOT1L 84444 broad.mit.edu 37 19 2202735 2202735 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:2202735G>T ENST00000398665.3 + 9 780 c.744G>T c.(742-744)gaG>gaT p.E248D NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 248 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTGGTCCTGAGGTGGATCACC 0.537000 21 26 1.10923e-09 1.19647e-09 1 1 0 FNDC3A 22862 broad.mit.edu 37 13 49775950 49775950 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr13:49775950A>G ENST00000492622.2 + 24 3307 c.3002A>G c.(3001-3003)tAc>tGc p.Y1001C FNDC3A_ENST00000541916.1_Missense_Mutation_p.Y1001C|FNDC3A_ENST00000398316.3_Missense_Mutation_p.Y945C NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 1001 Fibronectin type-III 8. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) GTATCCCTATACAGAGGACCA 0.328000 56 1 0 0 1 0 0 ACTR1A 10121 broad.mit.edu 37 10 104248819 104248819 + Splice_Site SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:104248819C>T ENST00000369905.4 - 3 253 c.e3+1 ACTR1A_ENST00000446605.2_Splice_Site|ACTR1A_ENST00000487599.1_Splice_Site|ACTR1A_ENST00000545684.1_Intron NM_005736.3 NP_005727.1 P61163 ACTZ_HUMAN ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) G2/M transition of mitotic cell cycle|vesicle-mediated transport centrosome|cytosol|dynactin complex ATP binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 13 Colorectal(252;0.122) Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222) CTGGGAATTACCTCAGCTTTG 0.502000 5 126 0 0 1 0 0 GRIA4 2893 broad.mit.edu 37 11 105797526 105797526 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:105797526C>T ENST00000393127.2 + 13 2353 c.1907C>T c.(1906-1908)tCa>tTa p.S636L GRIA4_ENST00000530497.1_Missense_Mutation_p.S636L|GRIA4_ENST00000282499.5_Missense_Mutation_p.S636L|GRIA4_ENST00000525187.1_Missense_Mutation_p.S636L NM_001077243.2 NP_001070711 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 636 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity p.S636L(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) ATCATTATATCATCTTATACT 0.408000 30 61 0 0 1 0 0 PRKCD 5580 broad.mit.edu 37 3 53213615 53213615 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:53213615G>A ENST00000394729.2 + 3 466 c.138G>A c.(136-138)caG>caA p.Q46Q PRKCD_ENST00000330452.3_Silent_p.Q46Q NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 46 C2. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) CACTGGTGCAGAAGAAGCCGA 0.597000 53 5 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90318018 90318018 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:90318018C>G ENST00000469640.2 + 26 3396 c.3021C>G c.(3019-3021)ccC>ccG p.P1007P DAPK1_ENST00000491893.1_Silent_p.P916P|DAPK1_ENST00000472284.1_Silent_p.P982P|DAPK1_ENST00000408954.3_Silent_p.P982P|DAPK1_ENST00000358077.5_Silent_p.P982P P53355 DAPK1_HUMAN death-associated protein kinase 1 982 D -> Y. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 TCAATGGACCCAACCAGCTGA 0.597000 Chronic Lymphocytic Leukemia, Familial Clustering of 11 26 0 0 1 0 0 TRA2B 6434 broad.mit.edu 37 3 185644425 185644425 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:185644425C>T ENST00000453386.2 - 2 409 c.134G>A c.(133-135)cGt>cAt p.R45H TRA2B_ENST00000382191.4_Intron NM_004593.2 NP_004584.1 P62995 TRA2B_HUMAN transformer 2 beta homolog (Drosophila) 45 Arg/Ser-rich (RS1 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 18 TGATCTGGAACGCCTGGAATC 0.488000 9 50 0 0 1 0 0 NEK6 10783 broad.mit.edu 37 9 127110016 127110016 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:127110016G>T ENST00000373600.3 + 10 1063 c.848G>T c.(847-849)gGa>gTa p.G283V NEK6_ENST00000546191.1_Missense_Mutation_p.G249V|NEK6_ENST00000320246.5_Missense_Mutation_p.G249V|NEK6_ENST00000539416.1_Missense_Mutation_p.G274V|NEK6_ENST00000373603.1_Missense_Mutation_p.G249V|NEK6_ENST00000394199.2_Missense_Mutation_p.G283V|NEK6_ENST00000545174.1_Missense_Mutation_p.G249V|NEK6_ENST00000540326.1_Missense_Mutation_p.G267V NM_001145001.2 NP_001138473.1 Q9HC98 NEK6_HUMAN NIMA-related kinase 6 249 Protein kinase. apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition cytoplasm|nucleus ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 CCCTTCTATGGAGATAAGATG 0.562000 91 45 1.53058e-52 1.73631e-52 1 1 0 P2RX2 22953 broad.mit.edu 37 12 133196438 133196438 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:133196438G>C ENST00000389110.3 + 4 427 c.390G>C c.(388-390)agG>agC p.R130S P2RX2_ENST00000449132.2_Missense_Mutation_p.R106S|P2RX2_ENST00000343948.4_Missense_Mutation_p.R130S|P2RX2_ENST00000348800.5_Missense_Mutation_p.R130S|P2RX2_ENST00000351222.4_Missense_Mutation_p.R38S|P2RX2_ENST00000350048.5_Missense_Mutation_p.R106S|P2RX2_ENST00000352418.4_Intron NM_170682.2|NM_170683.2|NM_174873.1 NP_733782.1|NP_733783.1|NP_777362.1 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X, ligand-gated ion channel, 2 130 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3) 20 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) AGAGCATAAGGGTCCACAACG 0.716000 4 12 0 0 1 0 0 TOR1B 27348 broad.mit.edu 37 9 132565492 132565492 + Translation_Start_Site SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:132565492A>G ENST00000259339.2 + 1 61 c.1A>G c.(1-3)Atg>Gtg p.M1V TOR1B_ENST00000486372.1_3'UTR NM_014506.1 NP_055321.1 O14657 TOR1B_HUMAN torsin family 1, member B (torsin B) 1 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen ATP binding|nucleoside-triphosphatase activity|unfolded protein binding endometrium(3)|kidney(1)|large_intestine(1)|lung(7) 12 Ovarian(14;0.0586) GAGGAGCGGGATGTTGCGGGC 0.741000 11 4 0 0 1 0 0 CDC20 991 broad.mit.edu 37 1 43828720 43828720 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:43828720G>C ENST00000372462.1 + 10 1623 c.1420G>C c.(1420-1422)Gag>Cag p.E474Q CDC20_ENST00000310955.6_Missense_Mutation_p.E474Q Q12834 CDC20_HUMAN cell division cycle 20 474 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GCGCTGTTTTGAGTTGGACCC 0.622000 15 46 0 0 1 0 0 ROM1 6094 broad.mit.edu 37 11 62381034 62381034 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:62381034C>G ENST00000278833.3 + 1 822 c.281C>G c.(280-282)cCt>cGt p.P94R ROM1_ENST00000534093.1_Intron NM_000327.3 NP_000318 Q03395 ROM1_HUMAN retinal outer segment membrane protein 1 94 cell adhesion|visual perception integral to plasma membrane central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 8 GCTCTATACCCTCCCTGGCGA 0.716000 10 1 0 0 1 0 0 GDF9 2661 broad.mit.edu 37 5 132197339 132197339 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:132197339C>A ENST00000378673.2 - 3 2173 c.1307G>T c.(1306-1308)gGc>gTc p.G436V GDF9_ENST00000296875.2_Missense_Mutation_p.G436V O60383 GDF9_HUMAN growth differentiation factor 9 436 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 22 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGCAATTGAGCCATCGGGCTC 0.443000 16 60 3.52763e-06 3.69607e-06 1 1 0 PARD3 56288 broad.mit.edu 37 10 34985320 34985320 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:34985320G>A ENST00000374789.3 - 2 473 c.148C>T c.(148-150)Cgc>Tgc p.R50C PARD3_ENST00000374776.1_Missense_Mutation_p.R50C|PARD3_ENST00000545693.1_Missense_Mutation_p.R50C|PARD3_ENST00000374773.1_Missense_Mutation_p.R50C|PARD3_ENST00000350537.4_Missense_Mutation_p.R50C|PARD3_ENST00000545260.1_Missense_Mutation_p.R50C|PARD3_ENST00000374790.3_Missense_Mutation_p.R50C|PARD3_ENST00000374788.3_Missense_Mutation_p.R50C|PARD3_ENST00000340077.5_Missense_Mutation_p.R50C|PARD3_ENST00000346874.4_Missense_Mutation_p.R50C|PARD3_ENST00000374794.3_Missense_Mutation_p.R50C NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 50 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding p.R50G(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TGTTCCAAGCGATGCACCTGT 0.418000 60 58 0 0 1 0 0 GPR142 350383 broad.mit.edu 37 17 72363772 72363772 + Missense_Mutation SNP A A T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:72363772A>T ENST00000335666.4 + 1 176 c.128A>T c.(127-129)cAg>cTg p.Q43L NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 43 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 TCCCATGCACAGAAAAGCCAG 0.537000 13 27 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142259805 142259805 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:142259805C>A ENST00000350721.4 - 18 3643 c.3522G>T c.(3520-3522)atG>atT p.M1174I ATR_ENST00000383101.3_Missense_Mutation_p.M1110I NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1174 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GTGTGGTCATCATCTTCACCC 0.383000 Other conserved DNA damage response genes 14 48 7.93312e-07 8.40364e-07 1 1 0 MRPS18B 28973 broad.mit.edu 37 6 30590659 30590659 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:30590659C>G ENST00000259873.4 + 5 562 c.405C>G c.(403-405)ttC>ttG p.F135L MRPS18B_ENST00000472229.1_3'UTR|MRPS18B_ENST00000506373.2_Intron NM_014046.3 NP_054765.1 Q9Y676 RT18B_HUMAN mitochondrial ribosomal protein S18B 135 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2) 13 GTATCATCTTCTATGCTCCAT 0.493000 22 30 0 0 1 0 0 BRSK1 84446 broad.mit.edu 37 19 55812927 55812927 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:55812927G>C ENST00000309383.1 + 8 1003 c.726G>C c.(724-726)aaG>aaC p.K242N BRSK1_ENST00000585418.1_Missense_Mutation_p.K242N|BRSK1_ENST00000590333.1_Missense_Mutation_p.K258N NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 242 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) TGCTGGAGAAGGTGAAACGGG 0.562000 11 3 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 979070 979070 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:979070A>G ENST00000379370.2 + 9 1806 c.1756A>G c.(1756-1758)Aca>Gca p.T586A NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 586 Kazal-like 6. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GCACGCCTGCACACACCAGAT 0.697000 15 38 0 0 1 0 0 MEGF11 84465 broad.mit.edu 37 15 66191219 66191219 + Nonsense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr15:66191219C>A ENST00000409699.2 - 22 2993 c.2821G>T c.(2821-2823)Gaa>Taa p.E941* MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000422354.1_Nonsense_Mutation_p.E941*|MEGF11_ENST00000288745.3_Nonsense_Mutation_p.E866*|MEGF11_ENST00000395625.2_Nonsense_Mutation_p.E866* A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 941 basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 TAAGGGTTTTCACTGCTATTC 0.453000 19 23 8.34094e-07 8.82347e-07 1 1 0 HECW2 57520 broad.mit.edu 37 2 197171300 197171300 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:197171300G>A ENST00000260983.3 - 13 2908 c.2726C>T c.(2725-2727)tCc>tTc p.S909F HECW2_ENST00000409111.1_Missense_Mutation_p.S553F NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CCTGGATCTGGAGGTAGAGTG 0.512000 11 21 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179417760 179417760 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:179417760G>C ENST00000589042.1 - 335 90091 c.89867C>G c.(89866-89868)cCt>cGt p.P29956R TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P21016R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P27388R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P20891R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P21083R|TTN_ENST00000591111.1_Missense_Mutation_p.P28315R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28315 Fibronectin type-III 118. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATGAGAGGAGGATCCCAGAG 0.438000 24 3 0 0 1 0 0 SDCCAG3 10807 broad.mit.edu 37 9 139302367 139302367 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:139302367C>T ENST00000298537.7 - 3 455 c.244G>A c.(244-246)Gag>Aag p.E82K SDCCAG3_ENST00000371725.3_Missense_Mutation_p.E32K|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.E105K NM_006643.3 NP_006634.3 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 105 cytoplasm NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) GGATTTGCCTCTTCCAGATCT 0.428000 13 51 0 0 1 0 0 BRD2 6046 broad.mit.edu 37 6 32945230 32945230 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:32945230G>C ENST00000395289.2 + 8 2813 c.1212G>C c.(1210-1212)gaG>gaC p.E404D BRD2_ENST00000395287.1_Missense_Mutation_p.E404D|BRD2_ENST00000374831.4_Missense_Mutation_p.E404D|BRD2_ENST00000443797.2_Missense_Mutation_p.E284D|BRD2_ENST00000374825.4_Missense_Mutation_p.E404D|BRD2_ENST00000449085.2_Missense_Mutation_p.E357D P25440 BRD2_HUMAN bromodomain containing 2 404 Bromo 2. spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 GGAAGATGGAGAACCGTGATT 0.527000 33 82 0 0 1 0 0 BRD2 6046 broad.mit.edu 37 6 32943902 32943902 + Missense_Mutation SNP T T G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:32943902T>G ENST00000395289.2 + 5 2167 c.566T>G c.(565-567)gTg>gGg p.V189G BRD2_ENST00000395287.1_Missense_Mutation_p.V189G|BRD2_ENST00000374831.4_Missense_Mutation_p.V189G|BRD2_ENST00000443797.2_Missense_Mutation_p.V69G|BRD2_ENST00000374825.4_Missense_Mutation_p.V189G|BRD2_ENST00000449085.2_Missense_Mutation_p.V142G P25440 BRD2_HUMAN bromodomain containing 2 189 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 GAGCTGGTAGTGACCATCCCT 0.453000 17 24 0 0 1 0 0 FOXO4 4303 broad.mit.edu 37 X 70316733 70316733 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chrX:70316733G>A ENST00000374259.3 + 1 687 c.355G>A c.(355-357)Gag>Aag p.E119K FOXO4_ENST00000466874.1_3'UTR|FOXO4_ENST00000341558.3_Missense_Mutation_p.E64K NM_001170931.1|NM_005938.3 NP_001164402.1|NP_005929.2 P98177 FOXO4_HUMAN forkhead box O4 119 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1) 18 Renal(35;0.156) AAGCGCCCCGGAGAAGCGACT 0.572000 6 0 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86590653 86590653 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:86590653C>A ENST00000370571.2 - 3 1732 c.1366G>T c.(1366-1368)Gat>Tat p.D456Y COL24A1_ENST00000436319.1_Missense_Mutation_p.D456Y NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 456 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TAAGTAGCATCAGGATAAAAT 0.348000 17 43 3.32936e-07 3.54148e-07 1 1 0 TSHZ2 128553 broad.mit.edu 37 20 51871036 51871036 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr20:51871036C>G ENST00000371497.5 + 2 1926 c.1039C>G c.(1039-1041)Cag>Gag p.Q347E TSHZ2_ENST00000603338.2_Missense_Mutation_p.Q344E|TSHZ2_ENST00000329613.6_Missense_Mutation_p.Q344E NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 347 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TTTTTCTTCTCAGAAGAACGC 0.498000 19 71 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55980420 55980420 + Missense_Mutation SNP T T A rs78036574 TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:55980420T>A ENST00000263923.4 - 6 966 c.671A>T c.(670-672)tAt>tTt p.Y224F NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 224 Ig-like C2-type 3. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AACCACATCATAAATCCTATA 0.348000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 18 43 0 0 1 0 0 PLCD4 84812 broad.mit.edu 37 2 219487481 219487481 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:219487481G>A ENST00000450993.2 + 6 991 c.652G>A c.(652-654)Gat>Aat p.D218N PLCD4_ENST00000417849.1_Missense_Mutation_p.D218N|PLCD4_ENST00000432688.1_Missense_Mutation_p.D218N NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 218 EF-hand 3. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TTTTTCAGCTGATGGGCAGAA 0.483000 51 7 0 0 1 0 0 PTX3 5806 broad.mit.edu 37 3 157160219 157160219 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:157160219G>A ENST00000295927.3 + 3 742 c.597G>A c.(595-597)gtG>gtA p.V199V VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron NM_002852.3 NP_002843.2 P26022 PTX3_HUMAN pentraxin 3, long 199 Pentaxin. inflammatory response extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1) 10 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TGCATCCAGTGAGACCAATGA 0.388000 72 24 0 0 1 0 0 UNC93A 54346 broad.mit.edu 37 6 167709717 167709717 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:167709717C>T ENST00000230256.3 + 3 642 c.467C>T c.(466-468)tCa>tTa p.S156L UNC93A_ENST00000366829.2_Missense_Mutation_p.S156L NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 156 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) AACTTGATCTCATCGCTGGTA 0.517000 16 42 0 0 1 0 0 TMED5 50999 broad.mit.edu 37 1 93622010 93622010 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:93622010G>A ENST00000370282.3 - 3 803 c.318C>T c.(316-318)ttC>ttT p.F106F TMED5_ENST00000479918.1_Silent_p.F106F|TMED5_ENST00000370280.1_Silent_p.F106F|TMED5_ENST00000483033.1_5'UTR NM_016040.4 NP_057124.3 Q9Y3A6 TMED5_HUMAN transmembrane emp24 protein transport domain containing 5 106 GOLD. transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 6 all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188) all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797) TGTCAAAGCAGAACATGTAAT 0.333000 7 34 0 0 1 0 0 CDCA7 83879 broad.mit.edu 37 2 174224026 174224026 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:174224026T>C ENST00000306721.3 + 3 294 c.191T>C c.(190-192)gTt>gCt p.V64A CDCA7_ENST00000392567.2_Intron|CDCA7_ENST00000410019.3_Intron|CDCA7_ENST00000410101.3_Intron|CDCA7_ENST00000347703.3_Intron NM_031942.4 NP_114148.3 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 0 regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) CTGGCAAATGTTTTTTATGAG 0.338000 44 2 0 0 1 0 0 SLC8B1 80024 broad.mit.edu 37 12 113759133 113759133 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:113759133C>G ENST00000552014.1 - 4 692 c.177G>C c.(175-177)ctG>ctC p.L59L SLC8B1_ENST00000546737.1_Silent_p.L59L|SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000202831.3_Silent_p.L59L solute carrier family 8 (sodium/lithium/calcium exchanger), member B1 59 CAGAGACATTCAGGCCACACA 0.572000 42 77 0 0 1 0 0 ZNF607 84775 broad.mit.edu 37 19 38190535 38190535 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:38190535C>G ENST00000355202.4 - 5 1092 c.497G>C c.(496-498)cGt>cCt p.R166P CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.R165P NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) AGGTTTCTCACGAGCATTAAT 0.383000 13 44 0 0 1 0 0 ALYREF 10189 broad.mit.edu 37 17 79847127 79847127 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:79847127C>G ENST00000331204.4 - 3 474 c.448G>C c.(448-450)Gac>Cac p.D150H ALYREF_ENST00000512673.1_5'UTR|ALYREF_ENST00000505490.2_Missense_Mutation_p.D157H NM_005782.3 NP_005773.3 Q86V81 THOC4_HUMAN Aly/REF export factor 150 Ala/Arg/Gly-rich.|RRM. D -> N (in Ref. 5; AAD09608). intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex nucleotide binding|protein binding|RNA binding AAGTGCACGTCTGCTGTTCCT 0.562000 19 66 0 0 1 0 0 RIN1 9610 broad.mit.edu 37 11 66102403 66102403 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:66102403C>T ENST00000311320.4 - 6 993 c.867G>A c.(865-867)agG>agA p.R289R RIN1_ENST00000424433.2_Silent_p.R184R|RIN1_ENST00000530056.1_Silent_p.R184R|RP11-867G23.12_ENST00000526655.1_RNA NM_004292.2 NP_004283.2 Q13671 RIN1_HUMAN Ras and Rab interactor 1 289 endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 CTGAGCTCTCCCTCCGTAGCA 0.711000 7 5 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27215722 27215722 + Silent SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:27215722C>A ENST00000230582.3 + 2 147 c.132C>A c.(130-132)ggC>ggA p.G44G PRSS16_ENST00000421826.2_Silent_p.G44G NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 44 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CTGCCCAGGGCCTGGGCCTGA 0.637000 20 28 2.4624e-09 2.64863e-09 1 1 0 PRAMEF1 65121 broad.mit.edu 37 1 12853451 12853451 + Silent SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:12853451C>A ENST00000332296.7 + 2 178 c.75C>A c.(73-75)atC>atA p.I25I NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 25 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCTTGTCCATCTCTGCCATGG 0.577000 48 37 4.25531e-23 4.75703e-23 1 1 0 GABRA4 2557 broad.mit.edu 37 4 46930501 46930501 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:46930501G>A ENST00000264318.3 - 9 2388 c.1406C>T c.(1405-1407)tCa>tTa p.S469L NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 469 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.S469L(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGATCCAACTGAAGCCTTTCG 0.468000 12 42 0 0 1 0 0 TMEM150C 441027 broad.mit.edu 37 4 83411378 83411378 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:83411378T>C ENST00000515780.2 - 7 581 c.377A>G c.(376-378)gAa>gGa p.E126G TMEM150C_ENST00000449862.2_Missense_Mutation_p.E126G|TMEM150C_ENST00000508701.1_3'UTR B9EJG8 T150C_HUMAN transmembrane protein 150C integral to membrane ovary(1) 1 ATGGATTTCTTCATCATTTGT 0.438000 24 87 0 0 1 0 0 DNAJB5 25822 broad.mit.edu 37 9 34997059 34997059 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:34997059G>T ENST00000541010.1 + 3 3862 c.850G>T c.(850-852)Gac>Tac p.D284Y DNAJB5_ENST00000454002.2_Missense_Mutation_p.D356Y|DNAJB5_ENST00000312316.5_Missense_Mutation_p.D284Y|DNAJB5_ENST00000453597.3_Missense_Mutation_p.D398Y|DNAJB5_ENST00000335998.3_Missense_Mutation_p.D318Y|DNAJB5_ENST00000545841.1_Missense_Mutation_p.D284Y O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 284 protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(32;0.00575) TCCCACTATCGACGGCCGAGT 0.552000 25 107 1.2476e-16 1.38262e-16 1 1 0 PIBF1 10464 broad.mit.edu 37 13 73482708 73482708 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr13:73482708G>C ENST00000326291.6 + 12 1866 c.1528G>C c.(1528-1530)Gaa>Caa p.E510Q NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 510 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) AGCCTCTTCTGAAAAACGCAT 0.348000 9 52 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24372900 24372900 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:24372900G>T ENST00000005284.3 + 4 1866 c.664G>T c.(664-666)Gcc>Tcc p.A222S NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 222 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) ATCTACTTTTGCCCGCCTCCC 0.532000 16 14 6.31663e-08 6.76593e-08 1 1 0 OR7C2 26658 broad.mit.edu 37 19 15053168 15053168 + Missense_Mutation SNP A A C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:15053168A>C ENST00000248072.3 + 1 868 c.868A>C c.(868-870)Agc>Cgc p.S290R NM_012377.1 NP_036509.1 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, member 2 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) CTTCATCTACAGCCTGAGGAA 0.532000 19 37 0 0 1 0 0 MAL 4118 broad.mit.edu 37 2 95719193 95719193 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:95719193C>T ENST00000309988.4 + 4 564 c.455C>T c.(454-456)tCt>tTt p.S152F MAL_ENST00000349807.3_Missense_Mutation_p.S54F|MAL_ENST00000353004.3_Missense_Mutation_p.S110F|MAL_ENST00000354078.3_Missense_Mutation_p.S96F NM_002371.3 NP_002362.1 P21145 MAL_HUMAN mal, T-cell differentiation protein 152 apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2) 10 STAD - Stomach adenocarcinoma(1183;0.18) AGATGGAAGTCTTCATAAAGC 0.463000 12 62 0 0 1 0 0 TAOK1 57551 broad.mit.edu 37 17 27807432 27807432 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:27807432A>G ENST00000261716.3 + 7 1015 c.496A>G c.(496-498)Aaa>Gaa p.K166E TAOK1_ENST00000536202.1_Missense_Mutation_p.K166E NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 166 Protein kinase. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) AGGCCAGGTGAAACTTGCTGA 0.413000 13 15 0 0 1 0 0 HOXA9 3205 broad.mit.edu 37 7 27203430 27203430 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:27203430C>G ENST00000343483.6 - 2 683 c.611G>C c.(610-612)cGc>cCc p.R204P HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000465941.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.R44P NM_152739.3 NP_689952.1 P31269 HXA9_HUMAN homeobox A9 204 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1) 8 CCGAGTGGAGCGCGCATGAAG 0.552000 T """NUP98, MSI2""" AML* 7 69 0 0 1 0 0 RGS18 64407 broad.mit.edu 37 1 192127869 192127869 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:192127869C>G ENST00000367460.3 + 1 283 c.102C>G c.(100-102)agC>agG p.S34R RGS18_ENST00000481707.1_3'UTR NM_130782.2 NP_570138.1 Q9NS28 RGS18_HUMAN regulator of G-protein signaling 18 34 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AAGAAACAAGCAAAGAAGCCA 0.284000 12 46 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123917005 123917005 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:123917005C>T ENST00000373855.1 + 27 4439 c.4179C>T c.(4177-4179)ttC>ttT p.F1393F CNTRL_ENST00000238341.5_Silent_p.F1393F|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373847.1_Silent_p.F841F|CNTRL_ENST00000373850.1_Silent_p.F841F Q7Z7A1 CNTRL_HUMAN centriolin 1393 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 TTAGGGACTTCATTGATGGAA 0.289000 4 18 0 0 1 0 0 NUPL2 11097 broad.mit.edu 37 7 23239812 23239812 + Missense_Mutation SNP T T A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:23239812T>A ENST00000258742.5 + 7 979 c.720T>A c.(718-720)agT>agA p.S240R NM_007342.2 NP_031368.1 O15504 NUPL2_HUMAN nucleoporin like 2 240 Ser-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ACAGCAGCAGTGATAATGCTC 0.398000 4 40 0 0 1 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118355736 118355736 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:118355736G>C ENST00000528052.1 + 6 547 c.476G>C c.(475-477)aGc>aCc p.S159T PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.S159T|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.S159T P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 159 lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) ACAGAGTATAGCTACCCCCCT 0.493000 19 85 0 0 1 0 0 SOX6 55553 broad.mit.edu 37 11 15994390 15994390 + Nonsense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:15994390C>A ENST00000352083.6 - 16 2529 c.2452G>T c.(2452-2454)Gaa>Taa p.E818* SOX6_ENST00000528252.1_Nonsense_Mutation_p.E791*|SOX6_ENST00000528429.1_Nonsense_Mutation_p.E818*|SOX6_ENST00000316399.6_Nonsense_Mutation_p.E798*|SOX6_ENST00000396356.3_Nonsense_Mutation_p.E798*|SOX6_ENST00000527619.1_Nonsense_Mutation_p.E794* P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 818 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 GCTTCATTTTCACTGCTATAG 0.433000 14 25 3.32936e-07 3.54148e-07 1 1 0 TMTC3 160418 broad.mit.edu 37 12 88568405 88568405 + Nonsense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:88568405G>A ENST00000266712.6 + 9 1441 c.1221G>A c.(1219-1221)tgG>tgA p.W407* NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 407 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 AGCTATCCTGGATTTGTCTGT 0.333000 34 43 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131747191 131747191 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:131747191G>A ENST00000372577.2 + 20 1995 c.1974G>A c.(1972-1974)atG>atA p.M658I NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 658 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 CGGAAGGGATGAATGCTGGAG 0.433000 OREG0003924 type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 8 40 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160104276 160104276 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:160104276G>A ENST00000361216.3 + 14 1919 c.1830G>A c.(1828-1830)gtG>gtA p.V610V ATP1A2_ENST00000392233.3_Silent_p.V610V NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 610 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CCCACTAGGTGATCATGGTAA 0.507000 9 25 0 0 1 0 0 LRIT3 345193 broad.mit.edu 37 4 110791805 110791805 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:110791805C>T ENST00000327908.3 + 4 2115 c.1351C>T c.(1351-1353)Ccc>Tcc p.P451S LRIT3_ENST00000409621.2_Missense_Mutation_p.P451S|LRIT3_ENST00000379920.3_Missense_Mutation_p.P589S|LRIT3_ENST00000594814.1_Missense_Mutation_p.P634S Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 589 Fibronectin type-III. integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) GACCCTGTTTCCCAGGTCTCA 0.428000 13 30 0 0 1 0 0 CKM 1158 broad.mit.edu 37 19 45815176 45815176 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:45815176G>C ENST00000221476.3 - 5 658 c.484C>G c.(484-486)Ctc>Gtc p.L162V NM_001824.4 NP_001815.2 P06732 KCRM_HUMAN creatine kinase, muscle 162 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2) 17 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) AGGCTGTTGAGAGCTATGGGG 0.597000 5 14 0 0 1 0 0 HK1 3098 broad.mit.edu 37 10 71146132 71146132 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:71146132C>G ENST00000448642.2 + 18 2387 c.1998C>G c.(1996-1998)caC>caG p.H666Q HK1_ENST00000298649.3_Missense_Mutation_p.H630Q|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.H619Q|HK1_ENST00000359426.6_Missense_Mutation_p.H631Q|HK1_ENST00000404387.2_Missense_Mutation_p.H635Q P19367 HXK1_HUMAN hexokinase 1 631 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 GCGTGGGCCACGATGTAGTCA 0.393000 9 50 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56354382 56354382 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:56354382A>G ENST00000370754.5 - 86 20689 c.20690T>C c.(20689-20691)aTg>aCg p.M6897T DST_ENST00000421834.2_Missense_Mutation_p.M4631T|DST_ENST00000361203.3_Missense_Mutation_p.M6608T|DST_ENST00000370788.2_Missense_Mutation_p.M4522T|DST_ENST00000446842.2_Missense_Mutation_p.M6393T|DST_ENST00000244364.6_Missense_Mutation_p.M4305T|DST_ENST00000370769.4_Missense_Mutation_p.M6719T|DST_ENST00000312431.6_3'UTR Q03001 DYST_HUMAN dystonin 6717 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TAGCCACTCCATAAGTTTACT 0.358000 63 83 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86590558 86590558 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:86590558C>G ENST00000370571.2 - 3 1827 c.1461G>C c.(1459-1461)ctG>ctC p.L487L COL24A1_ENST00000436319.1_Silent_p.L487L NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 487 Collagen-like 1. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TTGGCCCTCTCAGATACTCCA 0.313000 9 45 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47163992 47163992 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:47163992T>C ENST00000409792.3 - 3 2176 c.2134A>G c.(2134-2136)Aaa>Gaa p.K712E NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 712 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) ATGCATGCTTTGACCAAAGGG 0.393000 """N, F, S, Mis""" clear cell renal carcinoma 28 70 0 0 1 0 0 CD180 4064 broad.mit.edu 37 5 66492458 66492458 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:66492458G>C ENST00000256447.4 - 1 169 c.12C>G c.(10-12)gaC>gaG p.D4E NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 4 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) AGCAGCTGACGTCAAACGCCA 0.493000 52 57 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87792399 87792399 + Missense_Mutation SNP A A C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:87792399A>C ENST00000398204.4 + 23 2303 c.1980A>C c.(1978-1980)caA>caC p.Q660H ADAM22_ENST00000398201.4_Missense_Mutation_p.Q660H|ADAM22_ENST00000315984.7_Missense_Mutation_p.Q660H|ADAM22_ENST00000398209.3_Missense_Mutation_p.Q660H|ADAM22_ENST00000265727.7_Missense_Mutation_p.Q660H NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 660 Cys-rich. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) GTGGTCCCCAAATGATGTGCT 0.413000 8 73 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136305564 136305564 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:136305564G>C ENST00000371929.3 + 16 2330 c.1886G>C c.(1885-1887)aGa>aCa p.R629T ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R598T|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R629T|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.R301T|ADAMTS13_ENST00000485925.1_3'UTR NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 629 Spacer. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GTCGAGTACAGAGTGGCCCTC 0.642000 17 7 0 0 1 0 0 JMJD6 23210 broad.mit.edu 37 17 74719908 74719908 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:74719908C>G ENST00000445478.2 - 3 954 c.751G>C c.(751-753)Gaa>Caa p.E251Q JMJD6_ENST00000585429.1_Missense_Mutation_p.E251Q|JMJD6_ENST00000397625.4_Missense_Mutation_p.E251Q NM_001081461.1 NP_001074930.1 Q6NYC1 JMJD6_HUMAN jumonji domain containing 6 251 JmjC. mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2) 16 GGTTTGAATTCAGGTGGCCAG 0.478000 16 126 0 0 1 0 0 EEF2K 29904 broad.mit.edu 37 16 22262572 22262572 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:22262572G>C ENST00000263026.5 + 6 1021 c.547G>C c.(547-549)Gag>Cag p.E183Q NM_013302.3 NP_037434 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase 183 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) TGTGTACTTTGAGGACGTGCG 0.602000 15 29 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123097531 123097531 + Silent SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:123097531G>C ENST00000466202.1 - 12 2673 c.2097C>G c.(2095-2097)gtC>gtG p.V699V IQUB_ENST00000324698.6_Silent_p.V699V|RP11-332K15.1_ENST00000419832.1_RNA NM_001282855.1 NP_001269784.1 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 699 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TATTCCATCTGACCATGACCA 0.473000 40 22 0 0 1 0 0 SLC29A1 2030 broad.mit.edu 37 6 44197442 44197442 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:44197442C>T ENST00000393841.1 + 5 719 c.228C>T c.(226-228)ctC>ctT p.L76L SLC29A1_ENST00000371708.1_Silent_p.L76L|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000393844.1_Silent_p.L76L|SLC29A1_ENST00000371724.1_Silent_p.L76L|SLC29A1_ENST00000371755.3_Silent_p.L76L|SLC29A1_ENST00000427851.2_Silent_p.L76L|SLC29A1_ENST00000371713.1_Silent_p.L76L|SLC29A1_ENST00000371731.1_Silent_p.L76L|SLC29A1_ENST00000313248.7_Silent_p.L155L|SLC29A1_ENST00000371740.5_Silent_p.L76L NM_001078177.1 NP_001071645.1 Q99808 S29A1_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 1 76 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) GGAACTCTCTCAGTGCCATCT 0.572000 21 43 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156641266 156641266 + Missense_Mutation SNP G G C rs149421282 TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:156641266G>C ENST00000368223.3 - 4 2846 c.2714C>G c.(2713-2715)tCt>tGt p.S905C NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 905 Tail. QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780). brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTCCTCTGGAGATCTCAAATT 0.488000 13 55 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8201105 8201105 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:8201105G>A ENST00000600128.1 - 12 1848 c.1434C>T c.(1432-1434)ttC>ttT p.F478F FBN3_ENST00000601739.1_Silent_p.F478F|FBN3_ENST00000270509.2_Silent_p.F478F Q75N90 FBN3_HUMAN fibrillin 3 478 EGF-like 4; 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 GCGTGGCCTGGAAGCCCGGGT 0.647000 13 31 0 0 1 0 0 CHCHD10 400916 broad.mit.edu 37 22 24108345 24108345 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr22:24108345C>G ENST00000484558.2 - 3 947 c.379G>C c.(379-381)Gag>Cag p.E127Q CHCHD10_ENST00000401675.3_Missense_Mutation_p.E134Q|CHCHD10_ENST00000520222.1_Silent_p.A53A Q8WYQ3 CHC10_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 10 127 CHCH. mitochondrion large_intestine(2)|lung(1) 3 TTCAGGGCCTCGCTGAAGCCC 0.637000 3 17 0 0 1 0 0 ZNF513 130557 broad.mit.edu 37 2 27602985 27602985 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:27602985G>A ENST00000323703.6 - 2 384 c.186C>T c.(184-186)ctC>ctT p.L62L ZNF513_ENST00000407879.1_5'UTR NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 62 Gly-rich. regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGAAGCCCATGAGCTGGTCAC 0.577000 139 11 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85473828 85473828 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:85473828C>T ENST00000369663.5 - 1 409 c.72G>A c.(70-72)gcG>gcA p.A24A NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 24 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CGCCGATCAGCGCCTCCACCG 0.716000 5 4 0 0 1 0 0 ZMYM1 79830 broad.mit.edu 37 1 35563067 35563067 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:35563067G>C ENST00000373330.1 + 5 493 c.319G>C c.(319-321)Gga>Cga p.G107R ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.G107R Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 107 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCAGAGGAAAGGATCTGCTCA 0.408000 28 85 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104176513 104176513 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:104176513C>T ENST00000020673.5 - 2 809 c.283G>A c.(283-285)Ggg>Agg p.G95R PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Missense_Mutation_p.G95R NM_001270966.1|NM_002779.4 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 95 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) CTCTGGGCCCCGGGTGGGGGC 0.657000 9 41 0 0 1 0 0 EFNB2 1948 broad.mit.edu 37 13 107148121 107148121 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr13:107148121C>A ENST00000245323.4 - 3 623 c.474G>T c.(472-474)atG>atT p.M158I NM_004093.3 NP_004084.1 P52799 EFNB2_HUMAN ephrin-B2 158 cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development integral to plasma membrane ephrin receptor binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) TGAGGATCTTCATGGCTCTTG 0.468000 28 119 1.80694e-10 1.95455e-10 1 1 0 AFAP1L2 84632 broad.mit.edu 37 10 116059052 116059052 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:116059052G>A ENST00000369271.3 - 16 2380 c.2080C>T c.(2080-2082)Cgg>Tgg p.R694W AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.R694W|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.R747W NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 694 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) TTTAGCTCCCGTTTCTCTTTC 0.562000 10 47 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136305505 136305505 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:136305505G>A ENST00000371929.3 + 16 2271 c.1827G>A c.(1825-1827)atG>atA p.M609I ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.M578I|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.M609I|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.M281I|ADAMTS13_ENST00000485925.1_3'UTR NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 609 Spacer. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CTGGGAAGATGAGCATCTCCC 0.642000 28 7 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50545856 50545856 + Missense_Mutation SNP G G T rs142761358 TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr15:50545856G>T ENST00000267845.3 - 7 1130 c.728C>A c.(727-729)gCa>gAa p.A243E HDC_ENST00000543581.1_Missense_Mutation_p.A243E NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 243 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CCCTAGTGTTGCACAGACCTA 0.507000 8 21 3.09899e-07 3.30558e-07 1 1 0 KCMF1 56888 broad.mit.edu 37 2 85276691 85276691 + Silent SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:85276691A>G ENST00000409785.4 + 6 1163 c.804A>G c.(802-804)acA>acG p.T268T NM_020122.4 NP_064507.3 Q9P0J7 KCMF1_HUMAN potassium channel modulatory factor 1 intracellular ligase activity|zinc ion binding ovary(3) 3 CTACAATCACACAATCCACAG 0.478000 25 1 0 0 1 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011562 46011562 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr21:46011562G>C ENST00000400368.1 - 1 824 c.804C>G c.(802-804)caC>caG p.H268Q TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 268 29 X 5 AA repeats of C-C-X(3). keratin filament p.H268Q(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 CACAGCAGGCGTGCTGGCAGG 0.642000 5 206 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8415171 8415171 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:8415171C>T ENST00000337907.3 - 24 5311 c.4677G>A c.(4675-4677)aaG>aaA p.K1559K RERE_ENST00000476556.1_Silent_p.K1005K|RERE_ENST00000400907.2_Silent_p.K577K|RERE_ENST00000400908.2_Silent_p.K1559K|RERE_ENST00000377464.1_Silent_p.K1291K NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 1559 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CACCTTCTTTCTTCAGTCGAC 0.468000 26 15 0 0 1 0 0 PURB 5814 broad.mit.edu 37 7 44924385 44924385 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:44924385T>C ENST00000395699.2 - 1 575 c.563A>G c.(562-564)aAg>aGg p.K188R NM_033224.3 NP_150093.1 Q96QR8 PURB_HUMAN purine-rich element binding protein B 188 Gly-rich. regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding large_intestine(2)|lung(3)|prostate(1)|skin(1) 7 GTCTATGAGCTTCGCCAGCGC 0.761000 5 8 0 0 1 0 0 TESK1 7016 broad.mit.edu 37 9 35609271 35609271 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:35609271G>C ENST00000336395.5 + 10 1663 c.1413G>C c.(1411-1413)gaG>gaC p.E471D TESK1_ENST00000498522.1_3'UTR NM_006285.2 NP_006276.2 Q15569 TESK1_HUMAN testis-specific kinase 1 471 cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 27 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGGAGTGCGAGGGCAGCAGCC 0.672000 7 19 0 0 1 0 0 RP11-344E13.3 0 broad.mit.edu 37 17 20805697 20805697 + RNA SNP C C G rs112570501 by1000genomes TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:20805697C>G ENST00000577537.1 + 0 881 RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000417232.2_RNA CCGGCTTCACCCTCGGCTTCA 0.552000 6 28 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134073400 134073400 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:134073400C>T ENST00000264360.5 + 1 2931 c.2105C>T c.(2104-2106)cCc>cTc p.P702L NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CACCAGCGCCCCAGTCGCTCT 0.682000 4 43 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100471701 100471701 + Nonsense_Mutation SNP A A C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:100471701A>C ENST00000471714.1 - 65 5134 c.5025T>G c.(5023-5025)taT>taG p.Y1675* ABI3BP_ENST00000383691.4_Nonsense_Mutation_p.Y927*|ABI3BP_ENST00000284322.5_Nonsense_Mutation_p.Y973* Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 973 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 CAAATTTTTTATACCATGTCC 0.428000 11 47 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138679967 138679967 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:138679967C>T ENST00000298480.5 + 30 3598 c.3524C>T c.(3523-3525)gCc>gTc p.A1175V KCNT1_ENST00000487664.1_Missense_Mutation_p.A1130V|KCNT1_ENST00000371757.2_Intron|KCNT1_ENST00000263604.3_Missense_Mutation_p.A1149V|KCNT1_ENST00000488444.2_Missense_Mutation_p.A1154V|KCNT1_ENST00000486577.2_Missense_Mutation_p.A1132V|KCNT1_ENST00000491806.2_Missense_Mutation_p.A1140V|KCNT1_ENST00000490355.2_Missense_Mutation_p.A1153V B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 1167 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) AATTTAACAGCCAGTGATGTC 0.547000 14 80 0 0 1 0 0 CCHCR1 54535 broad.mit.edu 37 6 31118901 31118901 + Splice_Site SNP T T G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:31118901T>G ENST00000396268.3 - 5 990 c.e5-2 CCHCR1_ENST00000451521.2_Splice_Site|CCHCR1_ENST00000376266.5_Splice_Site|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Splice_Site NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 AGAGGACAGCTGCGGAAAGAA 0.547000 33 91 0 0 1 0 0 UPK1A 11045 broad.mit.edu 37 19 36159435 36159435 + Nonsense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:36159435C>G ENST00000222275.2 + 2 164 c.164C>G c.(163-165)tCa>tGa p.S55* UPK1A_ENST00000379013.2_Nonsense_Mutation_p.S55*|UPK1A-AS1_ENST00000443196.1_RNA NM_007000.2 NP_008931.1 O00322 UPK1A_HUMAN uroplakin 1A 55 epithelial cell differentiation|protein oligomerization endoplasmic reticulum|integral to membrane monosaccharide binding|protein homodimerization activity breast(1)|large_intestine(4)|lung(2)|stomach(2) 9 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ATGGGAGTCTCAGGCAAGGAT 0.577000 9 43 0 0 1 0 0 SLC6A14 11254 broad.mit.edu 37 X 115589981 115589981 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chrX:115589981A>G ENST00000371900.4 + 14 1877 c.1789A>G c.(1789-1791)Ata>Gta p.I597V SLC6A14_ENST00000463626.1_3'UTR NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 597 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) TCAGCGCCTTATAAGTTGCTG 0.368000 22 2 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43698638 43698638 + Nonsense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:43698638C>T ENST00000405312.3 - 5 1334 c.1097G>A c.(1096-1098)tGg>tAg p.W366* PSG4_ENST00000244295.9_Nonsense_Mutation_p.W273*|PSG4_ENST00000433626.2_Nonsense_Mutation_p.W273* NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 366 Ig-like C2-type 3. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) ATTAATTGTCCAAGAATATTG 0.458000 36 91 0 0 1 0 0 APIP 51074 broad.mit.edu 37 11 34904274 34904274 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:34904274C>G ENST00000395787.3 - 7 933 c.719G>C c.(718-720)gGa>gCa p.G240A APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Missense_Mutation_p.G257A NM_015957.2 NP_057041.2 Q96GX9 MTNB_HUMAN APAF1 interacting protein 240 apoptosis|L-methionine salvage cytoplasm identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity kidney(2)|lung(1)|skin(1) 4 all_epithelial(35;0.161) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.000425) TTAGACAATTCCATTTTCTCC 0.289000 22 24 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37618818 37618818 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr21:37618818G>A ENST00000399151.3 + 19 4625 c.4540G>A c.(4540-4542)Ggc>Agc p.G1514S NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1514 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CTACGGTTACGGCATGCATCC 0.627000 15 65 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123725997 123725997 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:123725997C>G ENST00000223642.1 - 34 4269 c.4240G>C c.(4240-4242)Gaa>Caa p.E1414Q NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1414 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) GATGATGATTCTTCCCTGCTG 0.373000 12 68 0 0 1 0 0 ALOXE3 59344 broad.mit.edu 37 17 8020166 8020166 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:8020166C>T ENST00000380149.1 - 2 778 c.748G>A c.(748-750)Ggt>Agt p.G250S ALOXE3_ENST00000318227.3_Missense_Mutation_p.G226S|ALOXE3_ENST00000448843.2_Missense_Mutation_p.G94S Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 94 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 GATACACTACCATCCGGTTCG 0.567000 20 1 0 0 1 0 0 SMARCD1 6602 broad.mit.edu 37 12 50488355 50488355 + Splice_Site SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:50488355G>A ENST00000394963.4 + 10 1667 c.1269G>A c.(1267-1269)aaG>aaA p.K423K SMARCD1_ENST00000381513.4_Splice_Site_p.K423K|SMARCD1_ENST00000548573.1_Splice_Site_p.K221K NM_003076.4 NP_003067.3 Q96GM5 SMRD1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 423 Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo. chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex protein complex scaffold|transcription coactivator activity NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 18 TAGACAACAAGGTAGGGGTCT 0.473000 19 39 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56472448 56472448 + Silent SNP T T G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:56472448T>G ENST00000370754.5 - 39 6878 c.6879A>C c.(6877-6879)atA>atC p.I2293I DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Silent_p.I2115I|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Silent_p.I1789I|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Silent_p.I2115I|DST_ENST00000312431.6_Silent_p.I2115I Q03001 DYST_HUMAN dystonin 2115 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GATCAATTGATATTGTACTTG 0.338000 24 33 0 0 1 0 0 SNX14 57231 broad.mit.edu 37 6 86223808 86223808 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:86223808G>A ENST00000314673.3 - 25 2713 c.2537C>T c.(2536-2538)tCa>tTa p.S846L SNX14_ENST00000369627.2_Missense_Mutation_p.S837L|SNX14_ENST00000505648.1_Missense_Mutation_p.S794L|SNX14_ENST00000346348.3_Missense_Mutation_p.S793L|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Missense_Mutation_p.S565L NM_153816.3 NP_722523.1 Q9Y5W7 SNX14_HUMAN sorting nexin 14 846 cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1) 22 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) TGTTATGAGTGAGACCAAACG 0.338000 27 63 0 0 1 0 0 ARRB1 408 broad.mit.edu 37 11 74988493 74988493 + Splice_Site SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:74988493C>T ENST00000420843.2 - 9 716 c.e9-1 ARRB1_ENST00000393505.4_Splice_Site|ARRB1_ENST00000360025.3_Splice_Site NM_004041.4 NP_004032.2 P49407 ARRB1_HUMAN arrestin, beta 1 G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding breast(4)|large_intestine(2)|lung(4)|prostate(1) 11 GGTAATAGATCTGGGGGGCAT 0.552000 25 116 0 0 1 0 0 FAM221B 392307 broad.mit.edu 37 9 35826128 35826128 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:35826128G>A ENST00000423537.2 - 2 300 c.31C>T c.(31-33)Cat>Tat p.H11Y TMEM8B_ENST00000377996.1_Intron NM_001012446.3 NP_001012448.2 A6H8Z2 CI128_HUMAN family with sequence similarity 221, member B 11 endometrium(2)|kidney(1)|lung(4) 7 ATGGTGATATGAGGCTCTTCT 0.507000 OREG0019180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 28 0 0 1 0 0 LTV1 84946 broad.mit.edu 37 6 144167249 144167249 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:144167249A>G ENST00000367576.5 + 3 331 c.197A>G c.(196-198)tAt>tGt p.Y66C NM_032860.3 NP_116249.2 Q96GA3 LTV1_HUMAN LTV1 homolog (S. cerevisiae) 66 breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372) GATGACGACTATGACTACCTG 0.433000 6 36 0 0 1 0 0 SLC6A4 6532 broad.mit.edu 37 17 28543194 28543194 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:28543194G>C ENST00000401766.2 - 6 1390 c.878C>G c.(877-879)tCt>tGt p.S293C SLC6A4_ENST00000261707.3_Missense_Mutation_p.S293C P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 293 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) CAGCAGGACAGAAAGGATGAT 0.567000 9 35 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43268359 43268359 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:43268359C>G ENST00000404209.4 - 2 235 c.139G>C c.(139-141)Gag>Cag p.E47Q PSG8_ENST00000401467.2_Missense_Mutation_p.E47Q|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.E47Q NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 47 Ig-like V-type. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TCCTTCCCCTCAGAAACTTTG 0.478000 51 238 0 0 1 0 0 ESPNL 339768 broad.mit.edu 37 2 239010607 239010607 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:239010607C>T ENST00000343063.3 + 2 583 c.320C>T c.(319-321)cCg>cTg p.P107L ESPNL_ENST00000409169.1_Missense_Mutation_p.P107L NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 107 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GGCGTCTCCCCGCTGCACCTG 0.706000 7 0 0 0 1 0 0 SRP54 6729 broad.mit.edu 37 14 35497299 35497299 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr14:35497299G>A ENST00000556994.1 + 16 1730 c.1333G>A c.(1333-1335)Gac>Aac p.D445N SRP54_ENST00000546080.1_Missense_Mutation_p.D396N|SRP54_ENST00000555557.1_Missense_Mutation_p.D381N|SRP54_ENST00000216774.6_Missense_Mutation_p.D445N P61011 SRP54_HUMAN signal recognition particle 54kDa 445 M-domain. GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) CTCAGGTGGCGACATGTCTAA 0.378000 39 0 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179702423 179702423 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:179702423C>G ENST00000420890.2 - 23 3640 c.3523G>C c.(3523-3525)Gag>Cag p.E1175Q CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.E600Q NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 600 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GGTAGTCGCTCTTCCCCTGTT 0.488000 42 6 0 0 1 0 0 PHF10 55274 broad.mit.edu 37 6 170110336 170110336 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:170110336T>C ENST00000339209.4 - 9 1232 c.1109A>G c.(1108-1110)tAc>tGc p.Y370C PHF10_ENST00000366780.4_Missense_Mutation_p.Y368C NM_018288.3|NM_133325.2 NP_060758.2|NP_579866.2 Q8WUB8 PHF10_HUMAN PHD finger protein 10 370 nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent npBAF complex zinc ion binding endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1) 14 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176) TTCTACCTTGTACCCAGGAAC 0.458000 28 91 0 0 1 0 0 TUBD1 51174 broad.mit.edu 37 17 57955602 57955602 + Translation_Start_Site SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:57955602T>C ENST00000539018.1 - 0 290 TUBD1_ENST00000592426.1_Missense_Mutation_p.K211E|TUBD1_ENST00000376094.4_Missense_Mutation_p.K211E|TUBD1_ENST00000340993.6_Missense_Mutation_p.K211E|TUBD1_ENST00000394239.3_Missense_Mutation_p.K211E|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000325752.3_Missense_Mutation_p.K211E NM_001193613.1 NP_001180542.1 Q9UJT1 TBD_HUMAN tubulin, delta 1 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2) 21 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) GCACAGATCTTATGGATGGCA 0.418000 20 63 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47058594 47058594 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:47058594C>T ENST00000409792.3 - 21 7726 c.7684G>A c.(7684-7686)Gaa>Aaa p.E2562K NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2562 Interaction with POLR2A. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CACTCTAATTCAGTGTCCTCT 0.498000 """N, F, S, Mis""" clear cell renal carcinoma 14 32 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88300391 88300391 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:88300391C>T ENST00000418177.2 - 8 2827 c.2460G>A c.(2458-2460)ccG>ccA p.P820P GRM5_ENST00000305447.4_Silent_p.P820P|GRM5_ENST00000305432.5_Silent_p.P820P|GRM5_ENST00000393297.1_Silent_p.P820P|GRM5_ENST00000455756.2_Silent_p.P820P P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 820 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TGTACACCTTCGGCACAAACA 0.527000 49 37 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4845213 4845213 + Silent SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:4845213G>C ENST00000399583.3 - 10 2461 c.2274C>G c.(2272-2274)ccC>ccG p.P758P RADIL_ENST00000538469.1_Silent_p.P518P|RADIL_ENST00000536091.1_3'UTR NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 758 Dilute. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) TGAAGGCCTCGGGGCTGTCCT 0.687000 6 31 0 0 1 0 0 LMAN1 3998 broad.mit.edu 37 18 57026406 57026406 + Missense_Mutation SNP A A C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr18:57026406A>C ENST00000251047.5 - 1 788 c.71T>G c.(70-72)cTc>cGc p.L24R NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 24 blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) GAAGCGACCGAGTGACAGCAG 0.662000 13 40 0 0 1 0 0 TRAF3IP2 10758 broad.mit.edu 37 6 111887764 111887764 + Splice_Site SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:111887764C>T ENST00000368761.5 - 7 1838 c.e7-1 TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000368735.1_Splice_Site|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000340026.6_Splice_Site|TRAF3IP2_ENST00000368731.2_Splice_Site|TRAF3IP2_ENST00000359831.4_Intron|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000392556.4_Splice_Site|TRAF3IP2-AS1_ENST00000456352.2_RNA NM_001164281.2|NM_147686.3 NP_001157753.1|NP_679211.2 O43734 CIKS_HUMAN TRAF3 interacting protein 2 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 18 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) TCACGGTCTTCTGTTAATGAG 0.512000 18 62 0 0 1 0 0 RNF138 51444 broad.mit.edu 37 18 29693775 29693775 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr18:29693775C>G ENST00000261593.3 + 4 802 c.344C>G c.(343-345)tCt>tGt p.S115C RNF138_ENST00000257190.5_Intron|RNF138_ENST00000585103.1_3'UTR NM_001191324.1|NM_016271.4 NP_001178253.2|NP_057355.2 Q8WVD3 RN138_HUMAN ring finger protein 138, E3 ubiquitin protein ligase 115 Wnt receptor signaling pathway intracellular ligase activity|protein kinase binding|zinc ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 12 TATGGTGTTTCTTCTATCATT 0.279000 11 22 0 0 1 0 0 CCDC106 29903 broad.mit.edu 37 19 56160660 56160660 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:56160660C>T ENST00000586790.1 + 2 1025 c.121C>T c.(121-123)Cgg>Tgg p.R41W CCDC106_ENST00000591241.1_Intron|CCDC106_ENST00000308964.3_Missense_Mutation_p.R41W|CCDC106_ENST00000588740.1_Missense_Mutation_p.R41W|CCDC106_ENST00000591578.1_Missense_Mutation_p.R41W Q9BWC9 CC106_HUMAN coiled-coil domain containing 106 41 nucleus endometrium(2)|large_intestine(3)|lung(5)|skin(1) 11 Colorectal(82;0.00403)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) GAGCCCCTCTCGGAGAAACTT 0.597000 20 49 0 0 1 0 0 COL6A5 256076 broad.mit.edu 37 3 130188097 130188097 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:130188097G>A ENST00000265379.6 + 38 7743 c.7249G>A c.(7249-7251)Gaa>Aaa p.E2417K COL6A5_ENST00000432398.2_Missense_Mutation_p.E2417K A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2417 Nonhelical region.|VWFA 10. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 ATCTGCTGGCGAAACCAACTC 0.408000 31 16 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223983917 223983917 + Nonsense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:223983917G>C ENST00000391878.2 - 14 2705 c.1937C>G c.(1936-1938)tCa>tGa p.S646* TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Nonsense_Mutation_p.S775*|TP53BP2_ENST00000391879.2_Nonsense_Mutation_p.S8* NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 769 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) GGATGGGTATGATGGGACAGA 0.478000 76 6 0 0 1 0 0 SGPL1 8879 broad.mit.edu 37 10 72635217 72635217 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:72635217C>G ENST00000373202.3 + 13 1557 c.1357C>G c.(1357-1359)Ctg>Gtg p.L453V NM_003901.3 NP_003892.2 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 453 apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity large_intestine(4) 4 Pyridoxal Phosphate(DB00114) AGTCATTGCTCTGGGATCCCG 0.398000 17 49 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34883425 34883425 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:34883425G>A ENST00000431794.3 - 5 779 c.257C>T c.(256-258)tCg>tTg p.S86L MYO19_ENST00000586007.1_Missense_Mutation_p.S86L|MYO19_ENST00000268852.9_Missense_Mutation_p.S86L|MYO19_ENST00000544606.1_Intron NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 86 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TAGCTCGGGCGAGTAGAGCTG 0.602000 3 15 0 0 1 0 0 APLF 200558 broad.mit.edu 37 2 68805035 68805035 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:68805035G>A ENST00000303795.4 + 10 1588 c.1417G>A c.(1417-1419)Gaa>Aaa p.E473K APLF_ENST00000471727.1_3'UTR NM_173545.2 NP_775816.1 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 473 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 AGATGATGAGGAAGAAGACTA 0.393000 44 13 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55625253 55625253 + Splice_Site SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:55625253A>G ENST00000370830.3 - 5 1803 c.e5+1 BMP5_ENST00000446683.2_Splice_Site NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) GAAAATTCCTACCTGCCATCC 0.358000 14 27 0 0 1 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142437206 142437206 + Splice_Site SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:142437206G>A ENST00000378004.3 + 17 1787 c.e17-1 ARHGAP26_ENST00000274498.4_Splice_Site NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCCTTTGCAGAACTGGAGAA 0.453000 45 34 0 0 1 0 0 CEP70 80321 broad.mit.edu 37 3 138289904 138289904 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:138289904C>T ENST00000264982.3 - 5 522 c.256G>A c.(256-258)Gag>Aag p.E86K CEP70_ENST00000464035.1_Missense_Mutation_p.E86K|CEP70_ENST00000542237.1_Missense_Mutation_p.E66K|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000481834.1_Missense_Mutation_p.E86K|CEP70_ENST00000484888.1_Missense_Mutation_p.E86K NM_024491.2 NP_077817.2 Q8NHQ1 CEP70_HUMAN centrosomal protein 70kDa 86 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 TCTATAAGCTCCTGTATCATG 0.323000 10 62 0 0 1 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890959 23890959 + Missense_Mutation SNP T T A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr15:23890959T>A ENST00000532292.1 - 1 216 c.122A>T c.(121-123)cAg>cTg p.Q41L NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CTGCTCCAGCTGGACCAAGGG 0.697000 3 6 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161173196 161173196 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:161173196G>A ENST00000308192.9 + 18 2238 c.2175G>A c.(2173-2175)gaG>gaA p.E725E NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 725 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CTGTGATTGAGAATAAAGTGT 0.473000 16 35 0 0 1 0 0 SLC6A4 6532 broad.mit.edu 37 17 28539850 28539850 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:28539850G>C ENST00000401766.2 - 8 1624 c.1112C>G c.(1111-1113)aCg>aGg p.T371R SLC6A4_ENST00000261707.3_Missense_Mutation_p.T371R P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 371 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) AACGAAGCTCGTCATGCAGTT 0.547000 3 31 0 0 1 0 0 BTN3A1 11119 broad.mit.edu 37 6 26405878 26405878 + Splice_Site SNP T T A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:26405878T>A ENST00000289361.6 + 2 453 c.e2+2 BTN3A1_ENST00000425234.2_Splice_Site|BTN3A1_ENST00000476549.2_Splice_Site|BTN3A1_ENST00000414912.2_Splice_Site NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 CTCACTCAGGTAGGGAACAAT 0.463000 9 61 0 0 1 0 0 WIPF2 147179 broad.mit.edu 37 17 38420808 38420808 + Missense_Mutation SNP T T A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:38420808T>A ENST00000323571.4 + 5 620 c.380T>A c.(379-381)gTa>gAa p.V127E WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_Missense_Mutation_p.V127E|WIPF2_ENST00000585043.1_Missense_Mutation_p.V127E NM_133264.4 NP_573571.1 Q8TF74 WIPF2_HUMAN WAS/WASL interacting protein family, member 2 127 cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 AGGCCTCCAGTATCTGCCGCC 0.582000 HNSCC(43;0.11) 12 56 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10637059 10637059 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr20:10637059G>A ENST00000254958.5 - 5 1257 c.742C>T c.(742-744)Cca>Tca p.P248S JAG1_ENST00000423891.2_Missense_Mutation_p.P89S NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 248 EGF-like 1. angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 CAGTCACCTGGGAGTTTGCAA 0.438000 Alagille Syndrome 13 20 0 0 1 0 0 NLK 51701 broad.mit.edu 37 17 26499590 26499590 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:26499590G>C ENST00000407008.3 + 7 1813 c.1095G>C c.(1093-1095)atG>atC p.M365I NM_016231.4 NP_057315.3 Q9UBE8 NLK_HUMAN nemo-like kinase 365 Protein kinase. intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1) 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) TGGAAGCAATGAGGACAGCTT 0.433000 3 11 0 0 1 0 0 MAK 4117 broad.mit.edu 37 6 10784785 10784785 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:10784785G>A ENST00000313243.2 - 11 1719 c.1337C>T c.(1336-1338)tCa>tTa p.S446L MAK_ENST00000354489.2_Missense_Mutation_p.S446L|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000538030.1_3'UTR|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.S446L P20794 MAK_HUMAN male germ cell-associated kinase 446 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1) 22 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) GTTGGAGCCTGAGGGTACTGG 0.507000 30 37 0 0 1 0 0 MDM2 4193 broad.mit.edu 37 12 69229661 69229661 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:69229661C>T ENST00000462284.1 + 9 1039 c.737C>T c.(736-738)tCa>tTa p.S246L MDM2_ENST00000517852.1_Intron|MDM2_ENST00000360430.2_Missense_Mutation_p.S45L|MDM2_ENST00000348801.2_Missense_Mutation_p.S40L|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.S215L|MDM2_ENST00000356290.4_Missense_Mutation_p.S70L|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000299252.4_Missense_Mutation_p.S70L|MDM2_ENST00000540827.1_Missense_Mutation_p.S45L|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000428863.2_Missense_Mutation_p.S45L|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.S191L|MDM2_ENST00000258149.5_Missense_Mutation_p.S185L NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 240 ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP (By similarity).|Region II. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) GATCAGGATTCAGTTTCAGAT 0.353000 A """sarcoma, glioma, colorectal, other""" 23 47 0 0 1 0 0 TAS1R3 83756 broad.mit.edu 37 1 1267961 1267961 + Missense_Mutation SNP C C G rs151004472 TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:1267961C>G ENST00000339381.5 + 3 1082 c.1050C>G c.(1048-1050)ttC>ttG p.F350L NM_152228.1 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 350 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) ACCCGGCCTTCTGCTCTGCCC 0.677000 5 25 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124303598 124303598 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:124303598G>T ENST00000409039.3 + 21 3553 c.3528G>T c.(3526-3528)aaG>aaT p.K1176N NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1176 Stem (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) GGGACATAAAGAGAACTTTCA 0.373000 5 8 0.00116845 0.00119489 1 1 0 MVB12B 89853 broad.mit.edu 37 9 129157882 129157882 + Nonsense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:129157882C>T ENST00000361171.3 + 6 649 c.568C>T c.(568-570)Cga>Tga p.R190* MVB12B_ENST00000436593.3_Nonsense_Mutation_p.R175*|MVB12B_ENST00000535766.1_Nonsense_Mutation_p.R183*|MVB12B_ENST00000545391.1_Nonsense_Mutation_p.R190* NM_033446.2 NP_258257.1 multivesicular body subunit 12B GATCTGGTATCGAATGGGCAG 0.498000 50 23 0 0 1 0 0 PVRL3 25945 broad.mit.edu 37 3 110830932 110830932 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:110830932G>C ENST00000485303.1 + 2 491 c.216G>C c.(214-216)aaG>aaC p.K72N PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000319792.3_Missense_Mutation_p.K72N|PVRL3_ENST00000493615.1_Missense_Mutation_p.K49N NM_001243286.1|NM_015480.2 NP_001230215.1|NP_056295.1 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 72 Ig-like V-type. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3) 19 TATGGGGAAAGAATGTTTCAT 0.358000 20 27 0 0 1 0 0 CHRNB4 1143 broad.mit.edu 37 15 78923446 78923446 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr15:78923446A>G ENST00000261751.3 - 4 442 c.331T>C c.(331-333)Tgg>Cgg p.W111R CHRNB4_ENST00000412074.2_Missense_Mutation_p.W111R|CHRNB4_ENST00000560511.1_5'UTR NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 111 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 TCAGGCAACCAGATGCGCTTT 0.592000 12 41 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38759342 38759342 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:38759342G>C ENST00000359357.3 + 19 2396 c.2142G>C c.(2140-2142)ttG>ttC p.L714F DNAH8_ENST00000449981.2_Missense_Mutation_p.L931F|DNAH8_ENST00000441566.1_Missense_Mutation_p.L714F dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TCAGTGACTTGTGTGAAATGC 0.353000 6 27 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59793312 59793312 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr14:59793312A>G ENST00000395125.1 + 10 1282 c.1259A>G c.(1258-1260)cAg>cGg p.Q420R DAAM1_ENST00000351081.1_Missense_Mutation_p.Q420R|DAAM1_ENST00000360909.3_Missense_Mutation_p.Q420R NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 420 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) GACAAAGGACAGGACCCTGAC 0.378000 35 4 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143074787 143074787 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:143074787C>T ENST00000367603.2 - 10 7540 c.6798G>A c.(6796-6798)gcG>gcA p.A2266A HIVEP2_ENST00000367604.1_Silent_p.A2266A|HIVEP2_ENST00000012134.2_Silent_p.A2266A|RP1-67K17.3_ENST00000437067.1_RNA NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 2266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) ACTCCCCTGACGCGCCTTTCT 0.557000 22 9 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107592669 107592669 + Splice_Site SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:107592669C>G ENST00000393561.1 - 21 3336 c.e21-1 LAMB1_ENST00000222399.6_Splice_Site P07942 LAMB1_HUMAN laminin, beta 1 axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGACACACTCTGCAAAAGAA 0.463000 6 7 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998165 27998165 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chrX:27998165C>T ENST00000441525.1 - 1 1401 c.1287G>A c.(1285-1287)aaG>aaA p.K429K NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 429 p.K429K(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 CCTTATATCTCTTAACATATT 0.453000 9 2 0 0 1 0 0 SCMH1 22955 broad.mit.edu 37 1 41512242 41512242 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:41512242G>A ENST00000402904.2 - 12 1673 c.1305C>T c.(1303-1305)ctC>ctT p.L435L SCMH1_ENST00000326197.7_Silent_p.L435L|SCMH1_ENST00000456518.2_Silent_p.L277L|SCMH1_ENST00000361705.3_Silent_p.L388L|SCMH1_ENST00000372597.1_Silent_p.L388L|SCMH1_ENST00000397171.2_Silent_p.L374L|SCMH1_ENST00000372596.1_Silent_p.L374L|SCMH1_ENST00000337495.5_Silent_p.L445L|SCMH1_ENST00000361191.5_Silent_p.L374L|SCMH1_ENST00000372595.1_Silent_p.L374L|SCMH1_ENST00000397174.2_Silent_p.L415L NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) 435 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) CTGGGAGGTTGAGGGTATGCT 0.552000 31 11 0 0 1 0 0 TSNARE1 203062 broad.mit.edu 37 8 143425520 143425520 + Silent SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr8:143425520C>A ENST00000524325.1 - 4 727 c.552G>T c.(550-552)ctG>ctT p.L184L TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000307180.3_Silent_p.L184L|TSNARE1_ENST00000520166.1_Silent_p.L184L Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 184 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) ACTTGTGCTTCAGGTCCACAA 0.701000 8 38 5.18039e-06 5.41298e-06 1 1 0 DENND1C 79958 broad.mit.edu 37 19 6467649 6467649 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:6467649C>G ENST00000381480.2 - 23 2384 c.2272G>C c.(2272-2274)Gag>Cag p.E758Q DENND1C_ENST00000543576.1_Missense_Mutation_p.E714Q NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 758 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 TGAGCGCGCTCTGCCAGCAGG 0.632000 5 4 0 0 1 0 0 KCTD4 386618 broad.mit.edu 37 13 45768563 45768563 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr13:45768563T>C ENST00000405872.1 - 2 543 c.140A>G c.(139-141)cAa>cGa p.Q47R KCTD4_ENST00000379108.1_Missense_Mutation_p.Q47R|GTF2F2_ENST00000340473.6_Intron NM_198404.2 NP_940686.2 Q8WVF5 KCTD4_HUMAN potassium channel tetramerization domain containing 4 47 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207) TGTTTGTTTTTGAGTAATGTA 0.398000 112 12 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62022370 62022370 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:62022370C>G ENST00000435607.1 - 20 3847 c.3771G>C c.(3769-3771)cgG>cgC p.R1257R SCN4A_ENST00000578147.1_Silent_p.R1257R NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1257 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GACTCACCTCCCGGGAGTCCA 0.612000 7 14 0 0 1 0 0 PRAME 23532 broad.mit.edu 37 22 22892452 22892452 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr22:22892452C>G ENST00000543184.1 - 4 1511 c.649G>C c.(649-651)Gca>Cca p.A217P PRAME_ENST00000398743.2_Missense_Mutation_p.A217P|PRAME_ENST00000402697.1_Missense_Mutation_p.A217P|PRAME_ENST00000539862.1_Missense_Mutation_p.A201P|PRAME_ENST00000398741.1_Missense_Mutation_p.A217P|PRAME_ENST00000405655.3_Missense_Mutation_p.A217P|PRAME_ENST00000424204.2_Missense_Mutation_p.A201P NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 217 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) ATGGGCATTGCAAAAATCTTC 0.443000 15 78 0 0 1 0 0 RAP2C 57826 broad.mit.edu 37 X 131351282 131351282 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chrX:131351282C>G ENST00000342983.2 - 2 761 c.15G>C c.(13-15)aaG>aaC p.K5N RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000460462.1_Intron|RAP2C_ENST00000370874.1_Missense_Mutation_p.K5N NM_001271187.1|NM_021183.4 NP_001258116.1|NP_067006.3 Q9Y3L5 RAP2C_HUMAN RAP2C, member of RAS oncogene family 5 negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2) 8 Acute lymphoblastic leukemia(192;0.000127) ACACCACTACCTTGTATTCCC 0.537000 38 4 0 0 1 0 0 DNAAF1 123872 broad.mit.edu 37 16 84209560 84209560 + Nonsense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:84209560G>T ENST00000378553.5 + 11 1844 c.1720G>T c.(1720-1722)Gag>Tag p.E574* DNAAF1_ENST00000563818.1_3'UTR NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 574 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 TCCGAAGATTGAGGTCATCTC 0.443000 OREG0023983 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 48 2.68985e-26 3.02018e-26 1 1 0 RAD50 10111 broad.mit.edu 37 5 131915076 131915076 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:131915076G>C ENST00000378823.3 + 4 834 c.16G>C c.(16-18)Ggg>Cgg p.G6R RAD50_ENST00000265335.6_Missense_Mutation_p.G145R NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 145 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGTTCTCTTGGGGTTTCCAA 0.368000 Homologous recombination 18 36 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14497097 14497097 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:14497097G>C ENST00000344204.4 + 50 8014 c.7990G>C c.(7990-7992)Gaa>Caa p.E2664Q TRIO_ENST00000344135.5_Missense_Mutation_p.E163Q|TRIO_ENST00000537187.1_Missense_Mutation_p.E2488Q NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2664 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GAAGTCACGGGAAGGACTCAG 0.488000 12 17 0 0 1 0 0 TNFSF18 8995 broad.mit.edu 37 1 173019880 173019880 + Splice_Site SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:173019880C>A ENST00000404377.3 - 1 223 c.e1+1 TNFSF18_ENST00000239468.2_Splice_Site|RP1-15D23.2_ENST00000432694.2_lincRNA NM_005092.3 NP_005083.2 Q9UNG2 TNF18_HUMAN tumor necrosis factor (ligand) superfamily, member 18 anti-apoptosis|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 9 TGCCTCCTTACCTCTAATTGG 0.343000 5 1 0.014758 0.014933 1 1 0 CXXC11 285093 broad.mit.edu 37 2 242814921 242814921 + Missense_Mutation SNP T T A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:242814921T>A ENST00000343216.3 + 2 1242 c.1214T>A c.(1213-1215)cTg>cAg p.L405Q NM_173821.2 NP_776182.2 Q14D33 CB085_HUMAN CXXC finger protein 11 405 integral to membrane CACGACGCCCTGCCAGAGACC 0.602000 11 6 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219555186 219555186 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:219555186C>G ENST00000295709.3 + 14 1951 c.1672C>G c.(1672-1674)Cag>Gag p.Q558E STK36_ENST00000392105.3_Missense_Mutation_p.Q558E|STK36_ENST00000392106.2_Missense_Mutation_p.Q558E|STK36_ENST00000440309.1_Missense_Mutation_p.Q558E NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 558 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GCAGGTGTTTCAGGAGGCTGC 0.527000 38 0 0 0 1 0 0 RFC4 5984 broad.mit.edu 37 3 186522426 186522426 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:186522426G>A ENST00000392481.2 - 2 358 c.77C>T c.(76-78)gCg>gTg p.A26V RFC4_ENST00000296273.2_Missense_Mutation_p.A26V|RFC4_ENST00000433496.1_Missense_Mutation_p.A26V NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 26 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) GCTACTTCCCGCACTGGCAGC 0.448000 4 153 0 0 1 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42843904 42843904 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr21:42843904G>A ENST00000398585.3 - 10 1075 c.1015C>T c.(1015-1017)Ctt>Ttt p.L339F TMPRSS2_ENST00000458356.1_Missense_Mutation_p.L302F|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.L302F NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 302 Peptidase S1. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) GGATTGTTAAGAGGTCTGGGA 0.468000 T """ERG, ETV1, ETV4, ETV5""" prostate 5 49 0 0 1 0 0 CD1D 912 broad.mit.edu 37 1 158151876 158151876 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:158151876C>T ENST00000368171.3 + 4 882 c.383C>T c.(382-384)tCa>tTa p.S128L NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 128 antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) GGGAACGCCTCAAATAACTTC 0.488000 24 135 0 0 1 0 0 STIP1 10963 broad.mit.edu 37 11 63971086 63971086 + Silent SNP A A T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:63971086A>T ENST00000358794.5 + 13 2245 c.1692A>T c.(1690-1692)gcA>gcT p.A564A STIP1_ENST00000305218.4_Silent_p.A517A|STIP1_ENST00000538945.1_Silent_p.A493A NM_001282652.1 NP_001269581.1 P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 517 axon guidance|response to stress Golgi apparatus|nucleus endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1) 27 ACCCCCAGGCACTCAGCGAGT 0.587000 5 17 0 0 1 0 0 UNC119 9094 broad.mit.edu 37 17 26874708 26874708 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:26874708G>A ENST00000484980.1 - 3 3473 c.312C>T c.(310-312)ctC>ctT p.L104L UNC119_ENST00000470125.1_Silent_p.L104L|UNC119_ENST00000335765.4_Silent_p.L199L|UNC119_ENST00000301032.4_Silent_p.L199L Q13432 U119A_HUMAN unc-119 homolog (C. elegans) 199 phototransduction|synaptic transmission|visual perception cytosol|soluble fraction breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 7 Lung NSC(42;0.00431) GCTCCTCGGAGAGAGGGGGGA 0.592000 OREG0024277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 31 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25928944 25928944 + Missense_Mutation SNP A A C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:25928944A>C ENST00000398988.3 + 13 1570 c.1125A>C c.(1123-1125)aaA>aaC p.K375N KSR1_ENST00000319524.6_Missense_Mutation_p.K512N|KSR1_ENST00000509603.2_Intron|KSR1_ENST00000581975.1_Intron|KSR1_ENST00000268763.6_Missense_Mutation_p.K375N NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 510 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) ATTGCTGGAAATGCCTCCTTA 0.443000 OREG0024261 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 4 0 0 1 0 0 HIST1H2BF 8343 broad.mit.edu 37 6 26199914 26199914 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:26199914A>G ENST00000359985.1 + 1 167 c.128A>G c.(127-129)tAc>tGc p.Y43C NM_003522.3 NP_003513.1 P62807 H2B1C_HUMAN histone cluster 1, H2bf 43 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3) 17 all_hematologic(11;0.196) GTGTACGTGTACAAGGTGCTA 0.552000 95 122 0 0 1 0 0 ARRDC3 57561 broad.mit.edu 37 5 90669563 90669563 + Nonsense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:90669563G>A ENST00000265138.3 - 7 1392 c.1126C>T c.(1126-1128)Caa>Taa p.Q376* NM_020801.2 NP_065852.1 Q96B67 ARRD3_HUMAN arrestin domain containing 3 376 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 18 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) AGTGGTCCTTGAAGGGCTCTC 0.458000 33 42 0 0 1 0 0 GUSBP11 91316 broad.mit.edu 37 22 23980729 23980729 + RNA SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr22:23980729G>A ENST00000455485.1 - 0 3760 AP000347.4_ENST00000430707.2_RNA|KB-1572G7.3_ENST00000390329.3_RNA GAGAAGGGCTGAATGGCTTGG 0.522000 5 13 0 0 1 0 0 HNRNPU 3192 broad.mit.edu 37 1 245019457 245019457 + Missense_Mutation SNP T T A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:245019457T>A ENST00000444376.2 - 11 2093 c.1859A>T c.(1858-1860)aAc>aTc p.N620I HNRNPU_ENST00000283179.9_Missense_Mutation_p.N639I NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 639 CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) GAGGGTAAAGTTTCCTGCAGG 0.378000 16 42 0 0 1 0 0 HARBI1 283254 broad.mit.edu 37 11 46637488 46637488 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:46637488C>T ENST00000326737.3 - 2 547 c.300G>A c.(298-300)atG>atA p.M100I NM_173811.3 NP_776172.1 Q96MB7 HARB1_HUMAN harbinger transposase derived 1 100 cytoplasm|nucleus metal ion binding|nuclease activity large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1) 3 CACAACGACTCATAGACGCCT 0.502000 21 27 0 0 1 0 0 BBS4 585 broad.mit.edu 37 15 73029818 73029818 + Splice_Site SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr15:73029818G>T ENST00000268057.4 + 16 1491 c.e16-1 BBS4_ENST00000539603.1_Splice_Site|BBS4_ENST00000542334.1_Splice_Site|BBS4_ENST00000395205.2_Splice_Site NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 TTTGTTACTAGGTGCTGGAGG 0.418000 Bardet-Biedl syndrome 5 6 2.0095e-06 2.117e-06 1 1 0 PCNT 5116 broad.mit.edu 37 21 47836173 47836173 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr21:47836173C>T ENST00000359568.5 + 30 6448 c.6341C>T c.(6340-6342)tCc>tTc p.S2114F PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2114 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AGTGATGATTCCTGTGACGGA 0.507000 37 11 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41158836 41158836 + Silent SNP A A T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:41158836A>T ENST00000263413.3 - 13 2172 c.1908T>A c.(1906-1908)ccT>ccA p.P636P C6_ENST00000337836.5_Silent_p.P636P NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 636 complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CTTCTATCTCAGGAAGATCGA 0.393000 21 25 0 0 1 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42860361 42860361 + Silent SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr21:42860361G>T ENST00000398585.3 - 5 576 c.516C>A c.(514-516)ggC>ggA p.G172G TMPRSS2_ENST00000458356.1_Silent_p.G135G|TMPRSS2_ENST00000332149.5_Silent_p.G135G|TMPRSS2_ENST00000497881.1_Intron NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 135 SRCR. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) AGTGTGACACGCCATCACACC 0.587000 T """ERG, ETV1, ETV4, ETV5""" prostate 4 30 0.150653 0.151442 1 1 0 CNTNAP1 8506 broad.mit.edu 37 17 40840568 40840568 + Silent SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:40840568G>C ENST00000264638.4 + 9 1612 c.1395G>C c.(1393-1395)ggG>ggC p.G465G CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 465 Laminin G-like 2. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) ATGTGGAAGGGGCAGAGGTCA 0.522000 27 35 0 0 1 0 0 CROT 54677 broad.mit.edu 37 7 86998750 86998750 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:86998750C>G ENST00000331536.3 + 7 791 c.606C>G c.(604-606)gtC>gtG p.V202V CROT_ENST00000419147.2_Silent_p.V230V|CROT_ENST00000442291.1_Silent_p.V202V NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 202 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) GAGCTTTTGTCTTTGATGTAA 0.438000 27 118 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103270424 103270424 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:103270424C>G ENST00000375735.2 + 84 12334 c.12190C>G c.(12190-12192)Cct>Gct p.P4064A DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P4071A|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 4064 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AGTGCCTCCTCCTAACGATCG 0.348000 17 9 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32709248 32709248 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr13:32709248C>G ENST00000380250.3 + 10 1501 c.1005C>G c.(1003-1005)ccC>ccG p.P335P NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TAAATGTTCCCTGCCTTAGAA 0.323000 15 17 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578253 7578253 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:7578253C>A ENST00000420246.2 - 6 728 c.596G>T c.(595-597)gGa>gTa p.G199V TP53_ENST00000455263.2_Missense_Mutation_p.G199V|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G199V|TP53_ENST00000269305.4_Missense_Mutation_p.G199V|TP53_ENST00000413465.2_Missense_Mutation_p.G199V|TP53_ENST00000359597.4_Missense_Mutation_p.G199V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 199 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G199E(11)|p.G199V(11)|p.0?(8)|p.?(5)|p.G106V(2)|p.G67V(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.G199A(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACGCAAATTTCCTTCCACTCG 0.542000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 21 1 5.35356e-11 5.8237e-11 1 1 0 ASAP1 50807 broad.mit.edu 37 8 131127885 131127885 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr8:131127885G>C ENST00000357668.1 - 22 2188 c.2161C>G c.(2161-2163)Ctg>Gtg p.L721V ASAP1_ENST00000518721.1_Missense_Mutation_p.L721V Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 721 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 TTGTCATCCAGATCATCATCG 0.418000 19 182 0 0 1 0 0 FABP2 2169 broad.mit.edu 37 4 120241954 120241954 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:120241954C>A ENST00000274024.3 - 2 398 c.111G>T c.(109-111)ttG>ttT p.L37F NM_000134.3 NP_000125.2 P12104 FABPI_HUMAN fatty acid binding protein 2, intestinal 37 fatty acid binding breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1) 8 TTGTCAGCTTCAAATTGTCAT 0.328000 9 55 0.00448238 0.00455956 1 1 0 TMOD3 29766 broad.mit.edu 37 15 52181290 52181290 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr15:52181290G>C ENST00000308580.7 + 5 725 c.444G>C c.(442-444)aaG>aaC p.K148N RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Missense_Mutation_p.K148N NM_014547.4 NP_055362.1 Q9NYL9 TMOD3_HUMAN tropomodulin 3 (ubiquitous) 148 cytoplasm|cytoskeleton actin binding|tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1) 14 all cancers(107;0.00194) CGAATACAAAGTTCTGTAATA 0.259000 8 40 0 0 1 0 0 AGA 175 broad.mit.edu 37 4 178352918 178352918 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:178352918T>C ENST00000264595.2 - 9 1112 c.985A>G c.(985-987)Atg>Gtg p.M329V NM_000027.3|NM_001171988.1 NP_000018.2|NP_001165459.1 P20933 ASPG_HUMAN aspartylglucosaminidase 329 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2) 16 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) TTATAAACCATGAAACTAAAC 0.338000 27 32 0 0 1 0 0 MGEA5 10724 broad.mit.edu 37 10 103565822 103565822 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:103565822C>G ENST00000361464.3 - 6 1126 c.731G>C c.(730-732)gGa>gCa p.G244A MGEA5_ENST00000370094.3_Missense_Mutation_p.G244A|MGEA5_ENST00000439817.1_Missense_Mutation_p.G244A|MGEA5_ENST00000357797.5_Missense_Mutation_p.G244A|MGEA5_ENST00000419011.2_3'UTR NM_012215.3 NP_036347.1 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 244 glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) CACTTCAATTCCAGGTAGAAG 0.353000 6 39 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53945909 53945909 + RNA SNP T T C rs28727441 by1000genomes TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr19:53945909T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACCCTGACTCTGCCTGAGGCC 0.562000 3 17 0 0 1 0 0 SP3 6670 broad.mit.edu 37 2 174777934 174777934 + Silent SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:174777934G>C ENST00000310015.6 - 6 2423 c.1893C>G c.(1891-1893)gtC>gtG p.V631V SP3_ENST00000418194.2_Silent_p.V563V|SP3_ENST00000455789.2_Silent_p.V578V NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor 631 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) TCTTCCCATAGACTTTACCAC 0.373000 39 4 0 0 1 0 0 FLVCR1 28982 broad.mit.edu 37 1 213046048 213046048 + Silent SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:213046048A>G ENST00000366971.4 + 3 1110 c.912A>G c.(910-912)ccA>ccG p.P304P NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 304 cell death|cellular iron ion homeostasis|heme export|transmembrane transport integral to plasma membrane heme transporter activity|protein binding|receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) GGTATCCACCAAGTCAGGCTC 0.333000 5 44 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664758 22664758 + RNA SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr22:22664758C>T ENST00000426066.1 + 0 939 NR_027293.1 CAAGGACTCTCTGTATAAGGT 0.488000 4 20 0 0 1 0 0 CNOT4 4850 broad.mit.edu 37 7 135099129 135099129 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:135099129C>G ENST00000428680.2 - 5 791 c.512G>C c.(511-513)aGa>aCa p.R171T CNOT4_ENST00000451834.1_Missense_Mutation_p.R171T|CNOT4_ENST00000541284.1_Missense_Mutation_p.R171T|CNOT4_ENST00000356162.4_Missense_Mutation_p.R171T|CNOT4_ENST00000361528.4_Missense_Mutation_p.R171T|CNOT4_ENST00000315544.5_Missense_Mutation_p.R171T|CNOT4_ENST00000414802.1_Missense_Mutation_p.R171T|CNOT4_ENST00000423368.2_Missense_Mutation_p.R171T NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 171 RRM. nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 CTGTATGGCTCTGAGAGCGTC 0.368000 37 111 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52704513 52704513 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:52704513C>G ENST00000287727.3 + 4 1596 c.1424C>G c.(1423-1425)tCt>tGt p.S475C ZFYVE9_ENST00000357206.2_Missense_Mutation_p.S475C|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.S475C O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 475 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 AATTATCTATCTAATGGTTGT 0.368000 73 34 0 0 1 0 0 RPL3L 6123 broad.mit.edu 37 16 1995614 1995614 + Silent SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:1995614G>C ENST00000268661.7 - 9 1147 c.1053C>G c.(1051-1053)ctC>ctG p.L351L NM_005061.2 NP_005052.1 Q92901 RL3L_HUMAN ribosomal protein L3-like 351 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 17 GATGCACCAGGAGGGACTGGG 0.552000 15 36 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57574576 57574576 + Missense_Mutation SNP A A C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:57574576A>C ENST00000243077.3 + 33 5979 c.5513A>C c.(5512-5514)gAg>gCg p.E1838A NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1838 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GTCTATGACGAGAGCATCCAG 0.657000 6 45 0 0 1 0 0 AMER2 219287 broad.mit.edu 37 13 25744590 25744590 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr13:25744590C>T ENST00000357816.2 - 3 1286 c.811G>A c.(811-813)Gaa>Aaa p.E271K AMER2_ENST00000515384.1_Missense_Mutation_p.E390K|AMER2_ENST00000381853.3_Missense_Mutation_p.E271K APC membrane recruitment protein 2 p.E271K(1)|p.E390K(1) CCTGCCTCTTCCTCTTGGTCT 0.542000 12 42 0 0 1 0 0 HIST1H2BD 3017 broad.mit.edu 37 6 26158743 26158743 + Missense_Mutation SNP A A T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:26158743A>T ENST00000289316.2 + 1 370 c.346A>T c.(346-348)Acc>Tcc p.T116S HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.T116S NM_138720.2 NP_619790.1 P58876 H2B1D_HUMAN histone cluster 1, H2bd 116 nucleosome assembly nucleosome|nucleus DNA binding breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 24 GTCGGAGGGCACCAAGGCCGT 0.557000 7 60 0 0 1 0 0 ODAM 54959 broad.mit.edu 37 4 71063824 71063824 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:71063824G>A ENST00000396094.2 + 4 373 c.325G>A c.(325-327)Gat>Aat p.D109N NM_017855.3 NP_060325.3 A1E959 ODAM_HUMAN odontogenic, ameloblast asssociated 109 Gln-rich. biomineral tissue development|odontogenesis of dentine-containing tooth fibril NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2) 20 AGGCCAAGTTGATCCCTTACA 0.507000 31 67 0 0 1 0 0 AKR1CL1 340811 broad.mit.edu 37 10 5226980 5226980 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:5226980C>G ENST00000334314.3 - 1 164 c.88G>C c.(88-90)Gat>Cat p.D30H AKR1CL1_ENST00000445191.1_Missense_Mutation_p.D26H aldo-keto reductase family 1, member C-like 1 cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 CTTACATGATCAGGAGCATAA 0.522000 21 22 0 0 1 0 0 SF3B5 83443 broad.mit.edu 37 6 144416628 144416628 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:144416628C>T ENST00000367569.2 - 1 126 c.7G>A c.(7-9)Gac>Aac p.D3N NM_031287.2 NP_112577.1 Q9BWJ5 SF3B5_HUMAN splicing factor 3b, subunit 5, 10kDa 3 nuclear mRNA splicing, via spliceosome nucleoplasm|U12-type spliceosomal complex lung(2)|prostate(1) 3 OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638) GTGTAGCGGTCAGTCATCTCG 0.602000 17 11 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30925102 30925102 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:30925102C>T ENST00000597505.1 - 30 4436 c.4437G>A c.(4435-4437)caG>caA p.Q1479Q DCDC1_ENST00000339794.5_Silent_p.Q558Q|DCDC1_ENST00000406071.2_Silent_p.Q214Q P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CAGAGTCTCTCTGGAGAAAGG 0.423000 3 6 0 0 1 0 0 SUGT1 10910 broad.mit.edu 37 13 53232563 53232563 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr13:53232563G>A ENST00000310528.8 + 4 272 c.217G>A c.(217-219)Gaa>Aaa p.E73K SUGT1_ENST00000343788.6_Missense_Mutation_p.E73K|SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000535397.1_Missense_Mutation_p.E17K Q9Y2Z0 SUGT1_HUMAN SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) mitosis kinetochore|ubiquitin ligase complex binding kidney(3)|large_intestine(3)|lung(2) 8 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.25e-08) GAAGTCTCTAGAACTCAATCC 0.358000 11 47 0 0 1 0 0 DUSP6 1848 broad.mit.edu 37 12 89744742 89744742 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:89744742G>C ENST00000279488.7 - 2 1692 c.461C>G c.(460-462)tCg>tGg p.S154W DUSP6_ENST00000547291.1_Missense_Mutation_p.S29W|DUSP6_ENST00000308385.6_Intron|DUSP6_ENST00000547140.1_5'UTR NM_001946.2 NP_001937.2 Q16828 DUS6_HUMAN dual specificity phosphatase 6 154 dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(5)|lung(8)|skin(2)|urinary_tract(1) 16 GCTGCTACACGAGCCGTCTAG 0.582000 6 6 0 0 1 0 0 NIFK 84365 broad.mit.edu 37 2 122485320 122485320 + Silent SNP G G T rs147757149 byFrequency TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:122485320G>T ENST00000285814.4 - 7 934 c.862C>A c.(862-864)Cga>Aga p.R288R AC018737.1_ENST00000419902.1_RNA NM_032390.4 NP_115766.3 Q9BYG3 MK67I_HUMAN 288 protein complex assembly|rRNA metabolic process|rRNA transcription condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1) 12 CTGCTTCTTCGTCTTTTTTTC 0.303000 54 5 3.40343e-31 3.83823e-31 1 1 0 ADAT1 23536 broad.mit.edu 37 16 75654569 75654569 + Silent SNP T T A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:75654569T>A ENST00000307921.3 - 3 274 c.129A>T c.(127-129)ccA>ccT p.P43P NM_012091.3 NP_036223.2 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 43 tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1) 19 CCTTGTCAGCTGGAGATTGTA 0.498000 8 29 0 0 1 0 0 DTX3L 151636 broad.mit.edu 37 3 122288121 122288121 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:122288121G>C ENST00000296161.4 + 3 1374 c.1185G>C c.(1183-1185)gaG>gaC p.E395D DTX3L_ENST00000383661.3_Intron NM_138287.3 NP_612144.1 Q8TDB6 DTX3L_HUMAN deltex 3-like (Drosophila) 395 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) TACTACAGGAGATATCAGAGA 0.378000 38 64 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12125993 12125993 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:12125993C>T ENST00000379388.2 + 4 6297 c.5965C>T c.(5965-5967)Ctt>Ttt p.L1989F HIVEP1_ENST00000541134.1_5'UTR NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1989 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) ACTTGCTCTCCTTAATTCAAA 0.423000 38 29 0 0 1 0 0 FUT4 2526 broad.mit.edu 37 11 94278565 94278565 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:94278565C>T ENST00000358752.2 + 1 1549 c.1266C>T c.(1264-1266)atC>atT p.I422I RP11-867G2.8_ENST00000536540.1_RNA NM_002033.3 NP_002024.1 P22083 FUT4_HUMAN fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) 422 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction alpha(1,3)-fucosyltransferase activity central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TGGATTATATCACCGAGAAGC 0.662000 8 13 0 0 1 0 0 ART3 419 broad.mit.edu 37 4 77003661 77003661 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:77003661A>G ENST00000355810.4 + 3 873 c.754A>G c.(754-756)Agc>Ggc p.S252G ART3_ENST00000349321.3_Missense_Mutation_p.S252G|ART3_ENST00000513494.1_3'UTR|ART3_ENST00000341029.5_Missense_Mutation_p.S252G NM_001130016.2 NP_001123488.1 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 252 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CAAGACCTGCAGCCATTATGA 0.453000 15 68 0 0 1 0 0 ZNF106 64397 broad.mit.edu 37 15 42743140 42743140 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr15:42743140C>G ENST00000263805.4 - 2 1587 c.1261G>C c.(1261-1263)Gat>Cat p.D421H ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron NM_001284306.1|NM_001284307.1|NM_022473.1 NP_001271235.1|NP_001271236.1|NP_071918.1 zinc finger protein 106 GCAGCGGAATCAGAAGAGGCC 0.438000 9 182 0 0 1 0 0 FMNL1 752 broad.mit.edu 37 17 43315963 43315963 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:43315963G>A ENST00000331495.3 + 10 1263 c.927G>A c.(925-927)ctG>ctA p.L309L FMNL1_ENST00000328118.3_Silent_p.L309L|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000592006.1_3'UTR NM_005892.3 NP_005883 O95466 FMNL_HUMAN formin-like 1 309 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 TTGAAAAGCTGATGGAATATT 0.587000 9 29 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21118559 21118559 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr18:21118559C>T ENST00000269228.5 - 20 3542 c.2988G>A c.(2986-2988)atG>atA p.M996I NPC1_ENST00000412552.2_Missense_Mutation_p.M678I NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 996 M -> R (in NPC1). autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) GCAGGAATCTCATGAAGTCTC 0.552000 57 90 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873849 36873849 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:36873849G>T ENST00000429976.2 - 21 7340 c.7093C>A c.(7093-7095)Ctt>Att p.L2365I TRANK1_ENST00000428977.2_Missense_Mutation_p.L1815I|TRANK1_ENST00000301807.6_Missense_Mutation_p.L1815I NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2365 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TTCTCCAGAAGCCGGATGAAG 0.458000 8 55 3.09899e-07 3.30558e-07 1 1 0 PMPCB 9512 broad.mit.edu 37 7 102939145 102939145 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:102939145C>T ENST00000249269.4 + 2 268 c.230C>T c.(229-231)tCa>tTa p.S77L PMPCB_ENST00000428154.1_Missense_Mutation_p.S77L|PMPCB_ENST00000420236.2_5'UTR NM_004279.2 NP_004270.2 O75439 MPPB_HUMAN peptidase (mitochondrial processing) beta 77 proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TCTGGGCTCTCAACATGCACA 0.428000 28 13 0 0 1 0 0 C18orf25 147339 broad.mit.edu 37 18 43795964 43795964 + Nonsense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr18:43795964C>T ENST00000282059.6 + 2 492 c.118C>T c.(118-120)Caa>Taa p.Q40* C18orf25_ENST00000321319.6_Nonsense_Mutation_p.Q40* NM_145055.3 NP_659492 Q96B23 CR025_HUMAN chromosome 18 open reading frame 25 40 central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 11 ACTGGAATCTCAAGTTCAGAA 0.448000 44 13 0 0 1 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28214876 28214876 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr21:28214876A>G ENST00000284984.3 - 2 1313 c.859T>C c.(859-861)Tcg>Ccg p.S287P NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) GCTGCCACCGAAAACAACGTG 0.512000 17 66 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16932423 16932423 + Missense_Mutation SNP A A T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:16932423A>T ENST00000377833.4 - 55 8767 c.8702T>A c.(8701-8703)gTc>gAc p.V2901D NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2901 CUB 21. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGACTGGAAGACGGCAGTGAA 0.577000 8 26 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119914984 119914984 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:119914984C>T ENST00000331113.4 + 1 1263 c.298C>T c.(298-300)Cgc>Tgc p.R100C NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 100 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding p.R100C(1)|p.R100S(1) NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GAATTTCTACCGCACTGGGAA 0.522000 67 39 0 0 1 0 0 KIAA1468 57614 broad.mit.edu 37 18 59854864 59854864 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr18:59854864C>G ENST00000256858.6 + 1 374 c.126C>G c.(124-126)ggC>ggG p.G42G KIAA1468_ENST00000398130.2_Silent_p.G42G Q9P260 K1468_HUMAN KIAA1468 42 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) TTCGGCTGGGCGCCGGAAGTG 0.647000 12 76 0 0 1 0 0 CASQ1 844 broad.mit.edu 37 1 160163587 160163587 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:160163587G>A ENST00000368079.3 + 3 672 c.397G>A c.(397-399)Gag>Aag p.E133K CASQ1_ENST00000368078.3_Missense_Mutation_p.E139K NM_001231.4 NP_001222.3 P31415 CASQ1_HUMAN calsequestrin 1 (fast-twitch, skeletal muscle) 139 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGAAGTCATTGAGTACGATGG 0.542000 13 61 0 0 1 0 0 CRNKL1 51340 broad.mit.edu 37 20 20020351 20020351 + Missense_Mutation SNP T T A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr20:20020351T>A ENST00000377340.2 - 12 1961 c.1930A>T c.(1930-1932)Att>Ttt p.I644F CRNKL1_ENST00000536226.1_Missense_Mutation_p.I483F|CRNKL1_ENST00000377327.4_Missense_Mutation_p.I632F NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 644 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 GCGAATTTAATCCATGAGGTA 0.413000 46 53 0 0 1 0 0 FGF5 2250 broad.mit.edu 37 4 81188090 81188090 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:81188090G>T ENST00000456523.3 + 1 298 c.112G>T c.(112-114)Gat>Tat p.D38Y FGF5_ENST00000312465.7_Missense_Mutation_p.D38Y NM_033143.2 NP_149134.1 P12034 FGF5_HUMAN fibroblast growth factor 5 38 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 CGCTGCCACTGATAGGAACCC 0.632000 9 31 0.00448238 0.00455956 1 1 0 COL1A1 1277 broad.mit.edu 37 17 48274387 48274387 + Missense_Mutation SNP C C G rs72645324 TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:48274387C>G ENST00000225964.5 - 11 906 c.788G>C c.(787-789)gGa>gCa p.G263A NM_000088.3 NP_000079 P02452 CO1A1_HUMAN collagen, type I, alpha 1 263 Triple-helical region. G -> R (in OI1; mild form).|G -> V (in OI1; mild form). axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) TCCCTTCATTCCAGGGAGGCC 0.532000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 17 23 0 0 1 0 0 RMND5B 64777 broad.mit.edu 37 5 177574631 177574631 + Silent SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:177574631T>C ENST00000515098.1 + 10 1309 c.958T>C c.(958-960)Tta>Cta p.L320L RMND5B_ENST00000542098.1_Silent_p.L307L|RMND5B_ENST00000313386.4_Silent_p.L320L Q96G75 RMD5B_HUMAN required for meiotic nuclear division 5 homolog B (S. cerevisiae) 320 endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 17 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAAGGACGAGTTACCGGTGAG 0.587000 14 14 0 0 1 0 0 CSDE1 7812 broad.mit.edu 37 1 115261316 115261316 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:115261316C>G ENST00000438362.2 - 19 2783 c.2405G>C c.(2404-2406)cGc>cCc p.R802P CSDE1_ENST00000358528.4_Missense_Mutation_p.R756P|CSDE1_ENST00000261443.5_Missense_Mutation_p.R725P|CSDE1_ENST00000483407.1_5'UTR|CSDE1_ENST00000339438.6_Missense_Mutation_p.R725P|CSDE1_ENST00000534699.1_Missense_Mutation_p.R756P|CSDE1_ENST00000530886.1_Missense_Mutation_p.R626P|CSDE1_ENST00000369530.1_Missense_Mutation_p.R771P NM_001242891.1 NP_001229820.1 O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding 756 male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding p.R756H(1) NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ATTCTTCAAGCGATTGACCAA 0.502000 5 40 0 0 1 0 0 SLC2A4RG 56731 broad.mit.edu 37 20 62373395 62373395 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr20:62373395C>G ENST00000266077.2 + 4 617 c.565C>G c.(565-567)Ctg>Gtg p.L189V SLC2A4RG_ENST00000493772.1_Intron NM_020062.3 NP_064446.2 Q9NR83 S2A4R_HUMAN SLC2A4 regulator 189 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1) 7 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) GGAGCCCACCCTGAGAAAAAG 0.697000 5 26 0 0 1 0 0 WDR48 57599 broad.mit.edu 37 3 39108315 39108315 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:39108315T>C ENST00000302313.5 + 5 458 c.430T>C c.(430-432)Tgg>Cgg p.W144R WDR48_ENST00000396258.3_Missense_Mutation_p.W62R|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000544962.1_Intron NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 144 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) AATATTCCTTTGGGATGTGAA 0.368000 24 100 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16259769 16259769 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:16259769A>G ENST00000205557.7 - 23 3046 c.3017T>C c.(3016-3018)aTg>aCg p.M1006T NM_001171.5 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 1006 ABC transmembrane type-1 2. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CACCGCAGCCATGGAGGCAAA 0.647000 13 10 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80419516 80419516 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:80419516G>A ENST00000265080.4 + 16 2593 c.2526G>A c.(2524-2526)gcG>gcA p.A842A NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 842 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CCCCTGCAGCGGACACCACAG 0.527000 5 28 0 0 1 0 0 RSBN1L 222194 broad.mit.edu 37 7 77379117 77379117 + Silent SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:77379117G>T ENST00000334955.8 + 3 1107 c.1080G>T c.(1078-1080)tcG>tcT p.S360S RSBN1L_ENST00000445288.1_Silent_p.S90S NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like nucleus central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GAGGTGCATCGGTTATCCATG 0.433000 3 51 0.150653 0.151442 1 1 0 ADAMTS14 140766 broad.mit.edu 37 10 72520317 72520317 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:72520317C>T ENST00000373208.1 + 22 3389 c.3389C>T c.(3388-3390)cCt>cTt p.P1130L ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P1127L NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 1127 Pro-rich. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CCCCAGGACCCTGCAGATGCT 0.637000 8 34 0 0 1 0 0 SLC28A3 64078 broad.mit.edu 37 9 86900856 86900856 + Splice_Site SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:86900856A>G ENST00000376238.4 - 13 1499 c.e13+1 SLC28A3_ENST00000537648.1_Splice_Site|RP11-380F14.2_ENST00000419815.1_RNA NM_001199633.1|NM_022127.2 NP_001186562.1|NP_071410.1 Q9HAS3 S28A3_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 3 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 ATGTGATTATACCTCAAAACT 0.438000 9 6 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11097069 11097069 + Missense_Mutation SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr16:11097069A>G ENST00000409790.1 + 11 1440 c.1210A>G c.(1210-1212)Aaa>Gaa p.K404E CLEC16A_ENST00000409552.3_Missense_Mutation_p.K402E NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 404 breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 AGATGAGGAGAAAGGGCCCAC 0.537000 6 13 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 100976414 100976414 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:100976414G>C ENST00000193391.7 - 10 1299 c.1112C>G c.(1111-1113)tCt>tGt p.S371C NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 371 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 ATTCAAGGAAGAGTTCCCCAG 0.398000 11 53 0 0 1 0 0 MATN2 4147 broad.mit.edu 37 8 98943201 98943201 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr8:98943201C>G ENST00000254898.5 + 3 394 c.163C>G c.(163-165)Cgg>Ggg p.R55G MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.R55G|MATN2_ENST00000521689.1_Missense_Mutation_p.R55G|MATN2_ENST00000524308.1_Missense_Mutation_p.R55G NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 55 proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TGAGAACAAGCGGGCAGACCT 0.493000 3 20 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17697955 17697955 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:17697955T>C ENST00000353383.1 + 3 2162 c.1693T>C c.(1693-1695)Tcc>Ccc p.S565P RAI1_ENST00000261641.6_Missense_Mutation_p.S565P NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 565 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) TGACGACATGTCCACCAAATC 0.627000 15 20 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73727012 73727012 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:73727012C>G ENST00000200181.3 + 9 1246 c.1059C>G c.(1057-1059)tcC>tcG p.S353S ITGB4_ENST00000339591.3_Silent_p.S353S|ITGB4_ENST00000450894.3_Silent_p.S353S|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Silent_p.S353S|ITGB4_ENST00000449880.2_Silent_p.S353S NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 353 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) AGGACTCGTCCAACATCGTGG 0.607000 13 80 0 0 1 0 0 QDPR 5860 broad.mit.edu 37 4 17488844 17488844 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr4:17488844C>G ENST00000281243.5 - 7 824 c.645G>C c.(643-645)tgG>tgC p.W215C QDPR_ENST00000508623.1_Missense_Mutation_p.G151A|QDPR_ENST00000428702.2_Missense_Mutation_p.W184C|QDPR_ENST00000513615.1_3'UTR NM_000320.2 NP_000311.2 P09417 DHPR_HUMAN quinoid dihydropteridine reductase 215 dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process cytosol 6,7-dihydropteridine reductase activity|binding|electron carrier activity autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 13 NADH(DB00157) TCCCTGTGATCCAGTCATGGA 0.458000 29 7 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36484226 36484226 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:36484226C>G ENST00000342292.4 - 11 5246 c.5226G>C c.(5224-5226)gaG>gaC p.E1742D GPR179_ENST00000584976.1_Intron NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1742 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TAACAGCTCTCTCCCTGGGTC 0.577000 10 19 0 0 1 0 0 KLRF1 51348 broad.mit.edu 37 12 9994481 9994481 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:9994481G>C ENST00000279544.3 + 4 472 c.408G>C c.(406-408)tgG>tgC p.W136C KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000324214.4_Missense_Mutation_p.W86C|KLRF1_ENST00000537723.1_Intron NM_016523.1 NP_057607 Q9NZS2 KLRF1_HUMAN killer cell lectin-like receptor subfamily F, member 1 136 C-type lectin. cell surface receptor linked signaling pathway integral to plasma membrane MHC class I receptor activity|sugar binding breast(1)|endometrium(2)|large_intestine(4)|lung(6) 13 TGAAAAGCTGGAGTGACAGTT 0.358000 16 24 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40024967 40024967 + Missense_Mutation SNP A A C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:40024967A>C ENST00000352035.2 - 28 3336 c.3206T>G c.(3205-3207)tTc>tGc p.F1069C ACLY_ENST00000537919.1_Missense_Mutation_p.F798C|ACLY_ENST00000590151.1_Missense_Mutation_p.F1069C|ACLY_ENST00000393896.2_Missense_Mutation_p.F1059C|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000353196.1_Missense_Mutation_p.F1059C NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 1069 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) CTCACCAATGAACCCCATACT 0.408000 5 30 0 0 1 0 0 SGSM2 9905 broad.mit.edu 37 17 2266191 2266191 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:2266191C>G ENST00000268989.3 + 5 695 c.518C>G c.(517-519)tCt>tGt p.S173C SGSM2_ENST00000574563.1_Missense_Mutation_p.S173C|SGSM2_ENST00000426855.2_Missense_Mutation_p.S173C NM_014853.2 NP_055668.2 O43147 SGSM2_HUMAN small G protein signaling modulator 2 173 RUN. intracellular Rab GTPase activator activity biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) ATCCTGGCCTCTCTTCTAGGT 0.632000 26 3 0 0 1 0 0 HUNK 30811 broad.mit.edu 37 21 33331199 33331199 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr21:33331199C>T ENST00000270112.2 + 5 1151 c.791C>T c.(790-792)aCg>aTg p.T264M NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 264 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity p.T264M(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 CTGCCTTTCACGGTGGAGCCT 0.537000 21 146 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183105535 183105535 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:183105535G>C ENST00000258341.4 + 25 4386 c.4129G>C c.(4129-4131)Gtg>Ctg p.V1377L NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 1377 Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent p.V1377M(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGATAGGCGTGTGAACGATAA 0.463000 15 19 0 0 1 0 0 TMEM57 55219 broad.mit.edu 37 1 25785013 25785013 + Missense_Mutation SNP G G T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:25785013G>T ENST00000374343.4 + 6 963 c.784G>T c.(784-786)Gat>Tat p.D262Y TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399763.3_Intron NM_018202.4 NP_060672.2 Q8N5G2 MACOI_HUMAN transmembrane protein 57 262 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) AAAGGACAAGGATGCCAAAAA 0.363000 30 61 3.65163e-15 4.0236e-15 1 1 0 MDN1 23195 broad.mit.edu 37 6 90354787 90354787 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr6:90354787G>C ENST00000369393.3 - 101 16664 c.16549C>G c.(16549-16551)Cgg>Ggg p.R5517G MDN1_ENST00000428876.1_Missense_Mutation_p.R5517G Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 5517 VWFA. protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.R5517W(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTTGCATTCCGGGCAGCCTGA 0.483000 5 43 0 0 1 0 0 MXRA8 54587 broad.mit.edu 37 1 1293864 1293864 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr1:1293864G>C ENST00000309212.6 - 1 51 c.21C>G c.(19-21)atC>atG p.I7M MXRA8_ENST00000342753.4_Missense_Mutation_p.I7M|MXRA8_ENST00000477278.2_Intron|MXRA8_ENST00000445648.2_Missense_Mutation_p.I7M NM_001282582.1|NM_032348.2 NP_001269511.1|NP_115724.1 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 7 integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TCCAAAGCAGGATTCGGGATG 0.642000 3 13 0 0 1 0 0 HEATR5A 25938 broad.mit.edu 37 14 31856458 31856458 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr14:31856458C>G ENST00000543095.2 - 8 1241 c.1057G>C c.(1057-1059)Gat>Cat p.D353H HEATR5A_ENST00000439727.1_Missense_Mutation_p.D60H|HEATR5A_ENST00000389961.3_Missense_Mutation_p.D347H|HEATR5A_ENST00000439348.1_Missense_Mutation_p.D347H|HEATR5A_ENST00000404677.3_Missense_Mutation_p.D353H NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 347 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) CAGACGGCATCGATCTGAGTT 0.453000 9 51 0 0 1 0 0 PCYOX1L 78991 broad.mit.edu 37 5 148743657 148743657 + Silent SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:148743657C>T ENST00000514349.1 + 2 663 c.84C>T c.(82-84)ttC>ttT p.F28F PCYOX1L_ENST00000274569.4_Silent_p.F118F Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like 118 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAGCACTTCATGCTGGAGG 0.627000 8 14 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57861968 57861968 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:57861968C>G ENST00000228682.2 + 10 1360 c.1269C>G c.(1267-1269)atC>atG p.I423M GLI1_ENST00000546141.1_Missense_Mutation_p.I382M|GLI1_ENST00000543426.1_Missense_Mutation_p.I295M NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 423 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) GAGGTCCCATCAGGGAGGAAA 0.617000 8 29 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77631124 77631124 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr13:77631124G>C ENST00000407578.2 - 79 13700 c.13434C>G c.(13432-13434)tgC>tgG p.C4478W MYCBP2_ENST00000544440.2_Missense_Mutation_p.C4440W|MYCBP2_ENST00000357337.6_Missense_Mutation_p.C4440W NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 4440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TCCATACCTTGCAAATGGGAC 0.353000 11 58 0 0 1 0 0 PROSC 11212 broad.mit.edu 37 8 37630287 37630287 + Missense_Mutation SNP T T G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr8:37630287T>G ENST00000328195.3 + 5 401 c.334T>G c.(334-336)Ttc>Gtc p.F112V NM_007198.3 NP_009129.1 O94903 PROSC_HUMAN proline synthetase co-transcribed homolog (bacterial) 112 pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) L-Proline(DB00172)|Pyridoxal Phosphate(DB00114) CCCCAATCTCTTCATGCTGGA 0.423000 39 20 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3742045 3742045 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:3742045G>A ENST00000324932.7 - 17 2577 c.2157C>T c.(2155-2157)ctC>ctT p.L719L NUP98_ENST00000397007.4_Silent_p.L736L|NUP98_ENST00000397004.4_Silent_p.L719L|NUP98_ENST00000359171.4_Silent_p.L719L|NUP98_ENST00000355260.3_Silent_p.L719L NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 736 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CAACCTTAGTGAGAATAATAC 0.294000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 4 8 0 0 1 0 0 NEK8 284086 broad.mit.edu 37 17 27068432 27068432 + Splice_Site SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:27068432G>A ENST00000268766.6 + 14 1927 c.1893G>A c.(1891-1893)gaG>gaA p.E631E AC010761.6_ENST00000584779.1_RNA NM_178170.2 NP_835464.1 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 631 cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) TCCTGGCAGAGAGCGAAGTGT 0.627000 6 13 0 0 1 0 0 ZNF511 118472 broad.mit.edu 37 10 135123667 135123667 + Splice_Site SNP G G T rs139953339 by1000genomes TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:135123667G>T ENST00000359035.3 + 4 432 c.e4-1 ZNF511_ENST00000463816.2_Splice_Site|ZNF511_ENST00000361518.5_Splice_Site|ZNF511_ENST00000368554.4_Splice_Site Q8NB15 ZN511_HUMAN zinc finger protein 511 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) CTCCATTTCAGTATCAGTGCT 0.612000 63 20 1.08321e-29 1.2198e-29 1 1 0 PRKCH 5583 broad.mit.edu 37 14 61857985 61857985 + Missense_Mutation SNP C C A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr14:61857985C>A ENST00000332981.5 + 2 791 c.406C>A c.(406-408)Ctt>Att p.L136I PRKCH_ENST00000555082.1_5'UTR NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 136 intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) GGTAATAACCCTTACCGGGAG 0.353000 13 26 9.31168e-06 9.66401e-06 1 1 0 CLDN2 9075 broad.mit.edu 37 X 106171908 106171908 + Silent SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chrX:106171908A>G ENST00000541806.1 + 2 969 c.450A>G c.(448-450)ccA>ccG p.P150P CLDN2_ENST00000336803.1_Silent_p.P150P|CLDN2_ENST00000540876.1_Silent_p.P150P NM_001171092.1 NP_001164563.1 P57739 CLD2_HUMAN claudin 2 150 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 TCTACTCACCACTGGTGCCTG 0.488000 21 1 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42711357 42711357 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:42711357G>C ENST00000230882.4 + 7 857 c.667G>C c.(667-669)Gat>Cat p.D223H GHR_ENST00000537449.1_Missense_Mutation_p.D36H|GHR_ENST00000357703.3_Missense_Mutation_p.D201H NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 223 Fibronectin type-III. 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ATTGAAAGTGGATAAGGAATA 0.403000 20 80 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124692599 124692599 + Silent SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:124692599G>A ENST00000311127.4 - 16 4039 c.3972C>T c.(3970-3972)ctC>ctT p.L1324L NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 1324 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 CCGTCATCTGGAGGAGGTTTT 0.478000 5 42 0 0 1 0 0 CDH19 28513 broad.mit.edu 37 18 64172332 64172332 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr18:64172332C>T ENST00000262150.2 - 12 2328 c.2036G>A c.(2035-2037)aGg>aAg p.R679K CDH19_ENST00000540086.1_3'UTR NM_021153.3 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 679 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) GTATAGGCTCCTGATCTCAGC 0.488000 97 66 0 0 1 0 0 PPM1G 5496 broad.mit.edu 37 2 27607623 27607636 + Frame_Shift_Del DEL GCTTGTCAGAGGCT GCTTGTCAGAGGCT - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:27607623_27607636delGCTTGTCAGAGGCT ENST00000344034.4 - 5 993_1006 c.729_742delAGCCTCTGACAAGC c.(727-744)tcagcctctgacaagctgfs p.ASDKL244fs PPM1G_ENST00000350803.4_Frame_Shift_Del_p.ASDKL244fs NM_177983.2 NP_817092.1 O15355 PPM1G_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1G 244 cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) ACTCGAGGCAGCTTGTCAGAGGCTGAAGAGCAGG 0.565 41 23 --- --- --- --- ST6GAL2 84620 broad.mit.edu 37 2 107459765 107459779 + In_Frame_Del DEL CTTCTGCAGGCGCGG CTTCTGCAGGCGCGG - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:107459765_107459779delCTTCTGCAGGCGCGG ENST00000409382.3 - 2 1265_1279 c.655_669delCCGCGCCTGCAGAAG c.(655-669)ccgcgcctgcagaagdel p.PRLQK219del ST6GAL2_ENST00000409087.3_In_Frame_Del_p.PRLQK219del|ST6GAL2_ENST00000361686.4_In_Frame_Del_p.PRLQK219del NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 219 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.R220C(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CCTTCATCGCCTTCTGCAGGCGCGGGTTCAGCATT 0.647 12 3 --- --- --- --- TMEM169 92691 broad.mit.edu 37 2 216964790 216964790 + Frame_Shift_Del DEL G G - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr2:216964790delG ENST00000454545.1 + 4 745 c.419delG c.(418-420)aggfs p.R140fs TMEM169_ENST00000406027.2_Frame_Shift_Del_p.R140fs|TMEM169_ENST00000437356.2_Frame_Shift_Del_p.R140fs|TMEM169_ENST00000295658.4_Frame_Shift_Del_p.R140fs NM_001142310.1 NP_001135782.1 Q96HH4 TM169_HUMAN transmembrane protein 169 140 integral to membrane breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2) 13 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAGTCATCAAGGGAAACGACG 0.532 34 5 --- --- --- --- DYNC1LI1 51143 broad.mit.edu 37 3 32571050 32571050 + Frame_Shift_Del DEL T T - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:32571050delT ENST00000273130.4 - 11 1391 c.1288delA c.(1288-1290)attfs p.I430fs DYNC1LI1_ENST00000432458.2_Frame_Shift_Del_p.I314fs NM_016141.3 NP_057225.2 Q9Y6G9 DC1L1_HUMAN dynein, cytoplasmic 1, light intermediate chain 1 430 cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole ATP binding|motor activity kidney(2)|large_intestine(1)|lung(3)|ovary(1) 7 TTTGGATCAATTTTTTTTGAC 0.398 7 50 --- --- --- --- UBA7 7318 broad.mit.edu 37 3 49847283 49847300 + In_Frame_Del DEL GAAGAGTTCTTCAAACTC GAAGAGTTCTTCAAACTC - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:49847283_49847300delGAAGAGTTCTTCAAACTC ENST00000333486.3 - 15 2010_2027 c.1852_1869delGAGTTTGAAGAACTCTTC c.(1852-1869)gagtttgaagaactcttcdel p.EFEELF618del NM_003335.2 NP_003326.2 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 618 ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CAGACAGTCGGAAGAGTTCTTCAAACTCATGCCGGGCC 0.583 10 72 --- --- --- --- IL12A-AS1 101928376 broad.mit.edu 37 3 159820697 159820698 + RNA INS - - A rs145340132 by1000genomes TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr3:159820697_159820698insA ENST00000497452.1 - 0 517 TTGGAacagtgaaaaaaaaaag 0.277 3 5 --- --- --- --- TRIO 7204 broad.mit.edu 37 5 14363968 14363972 + Frame_Shift_Del DEL ACTTG ACTTG - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:14363968_14363972delACTTG ENST00000344204.4 + 14 2543_2547 c.2519_2523delACTTG c.(2518-2523)aacttgfs p.NL840fs TRIO_ENST00000537187.1_Frame_Shift_Del_p.NL840fs|TRIO_ENST00000509967.2_Frame_Shift_Del_p.NL791fs NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 840 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) ACCATGAACAACTTGACTTTTGACG 0.493 10 37 --- --- --- --- TNPO1 3842 broad.mit.edu 37 5 72189008 72189019 + In_Frame_Del DEL CCGTACTGTGAA CCGTACTGTGAA - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr5:72189008_72189019delCCGTACTGTGAA ENST00000337273.5 + 16 2257_2268 c.1831_1842delCCGTACTGTGAA c.(1831-1842)ccgtactgtgaadel p.PYCE611del TNPO1_ENST00000454282.1_In_Frame_Del_p.PYCE561del|TNPO1_ENST00000506351.2_In_Frame_Del_p.PYCE603del|TNPO1_ENST00000523768.1_In_Frame_Del_p.PYCE561del NM_002270.3 NP_002261.3 Q92973 TNPO1_HUMAN transportin 1 611 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity p.P603Q(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) TGGATTCCTTCCGTACTGTGAACCTGTGTATC 0.401 28 98 --- --- --- --- PMS2P4 5382 broad.mit.edu 37 7 66762353 66762354 + RNA INS - - G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr7:66762353_66762354insG ENST00000414507.1 - 0 184 ggcatgaacccggggggcggag 0.421 3 4 --- --- --- --- NEFM 4741 broad.mit.edu 37 8 24772250 24772264 + In_Frame_Del DEL AAGAGATCGCCGAGT AAGAGATCGCCGAGT - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr8:24772250_24772264delAAGAGATCGCCGAGT ENST00000221166.5 + 1 1726_1740 c.944_958delAAGAGATCGCCGAGT c.(943-960)gaagagatcgccgagtac>gac p.315_320EEIAEY>D NEFM_ENST00000437366.2_In_Frame_Del_p.315_320EEIAEY>D|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_In_Frame_Del_p.315_320EEIAEY>D P07197 NFM_HUMAN neurofilament, medium polypeptide 315 Coil 2B.|Rod. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) TCCGCCAAGGAAGAGATCGCCGAGTACCGGCGCCA 0.633 7 3 --- --- --- --- KCNQ3 3786 broad.mit.edu 37 8 133150233 133150233 + Frame_Shift_Del DEL T T - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr8:133150233delT ENST00000388996.4 - 12 2019 c.1599delA c.(1597-1599)aaafs p.K533fs KCNQ3_ENST00000519445.1_Frame_Shift_Del_p.K533fs|KCNQ3_ENST00000521134.1_Frame_Shift_Del_p.K413fs NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 533 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TCTCCTTGAATTTTTTTTTAT 0.453 8 177 --- --- --- --- UNC13B 10497 broad.mit.edu 37 9 35403841 35403858 + In_Frame_Del DEL TGTGATGCCTCTGAGGGA TGTGATGCCTCTGAGGGA - rs78483173 TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr9:35403841_35403858delTGTGATGCCTCTGAGGGA ENST00000378495.3 + 39 4809_4826 c.4587_4604delTGTGATGCCTCTGAGGGA c.(4585-4605)gctgtgatgcctctgagggat>gct p.VMPLRD1530del UNC13B_ENST00000378496.4_In_Frame_Del_p.VMPLRD1549del|UNC13B_ENST00000396787.1_In_Frame_Del_p.VMPLRD1561del NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 1530 C2 3. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) TAGGGCTGGCTGTGATGCCTCTGAGGGATGTCACAGCC 0.573 15 18 --- --- --- --- UNC5B 219699 broad.mit.edu 37 10 72972745 72972745 + Translation_Start_Site DEL G G - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:72972745delG ENST00000335350.6 + 0 419 UNC5B_ENST00000373192.4_Start_Codon_Del NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 GCGGGAGCATGGGGGCCCGGA 0.761 2 4 --- --- --- --- FAM160B1 57700 broad.mit.edu 37 10 116621095 116621095 + Splice_Site DEL T T - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr10:116621095delT ENST00000369248.4 + 16 2527 c.e16+2 FAM160B1_ENST00000369250.3_Splice_Site NM_020940.3 NP_065991.3 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 AGGCCCTATGTAAGTTAGTGT 0.368 19 51 --- --- --- --- CCKBR 887 broad.mit.edu 37 11 6292266 6292266 + Frame_Shift_Del DEL C C - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:6292266delC ENST00000525462.1 + 4 1047 c.1044delC c.(1042-1044)tgcfs p.C348fs CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000334619.2_Frame_Shift_Del_p.C279fs|CCKBR_ENST00000532715.1_Frame_Shift_Del_p.C195fs P32239 GASR_HUMAN cholecystokinin B receptor 279 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) ACGGGCGTTGCCGGCCTGAGA 0.662 16 20 --- --- --- --- ZNF408 79797 broad.mit.edu 37 11 46726111 46726119 + In_Frame_Del DEL CAGTGGAGC CAGTGGAGC - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:46726111_46726119delCAGTGGAGC ENST00000311764.2 + 5 1091_1099 c.861_869delCAGTGGAGC c.(859-870)ggcagtggagcc>ggc p.SGA288del NM_001184751.1|NM_024741.2 NP_001171680.1|NP_079017.1 Q9H9D4 ZN408_HUMAN zinc finger protein 408 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ACCCAGATGGCAGTGGAGCCAGTTTCTCA 0.593 7 14 --- --- --- --- MALAT1 378938 broad.mit.edu 37 11 65268417 65268431 + RNA DEL GTCTGAAGCTTTTGA GTCTGAAGCTTTTGA - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:65268417_65268431delGTCTGAAGCTTTTGA ENST00000534336.1 + 0 3185_3199 NR_002819.2 CATGAATCTTGTCTGAAGCTTTTGAGGGCAGACTG 0.409 34 17 --- --- --- --- MALAT1 378938 broad.mit.edu 37 11 65271182 65271191 + RNA DEL TCTTCTCTAA TCTTCTCTAA - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:65271182_65271191delTCTTCTCTAA ENST00000534336.1 + 0 5950_5959 NR_002819.2 TGGGGGGGATTCTTCTCTAATCTTTCAGAA 0.348 7 34 --- --- --- --- ROBO4 54538 broad.mit.edu 37 11 124757040 124757040 + Frame_Shift_Del DEL G G - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr11:124757040delG ENST00000306534.3 - 15 2753 c.2268delC c.(2266-2268)cccfs p.P756fs ROBO4_ENST00000533054.1_Frame_Shift_Del_p.P611fs|RP11-664I21.5_ENST00000524453.1_RNA NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 756 Pro/Ser-rich. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GGGGACTGCAGGGGCTAAGGA 0.657 15 19 --- --- --- --- SLCO1C1 53919 broad.mit.edu 37 12 20852615 20852615 + Frame_Shift_Del DEL G G - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:20852615delG ENST00000381552.1 + 2 473 c.105delG c.(103-105)aagfs p.K35fs SLCO1C1_ENST00000266509.2_Frame_Shift_Del_p.K35fs|SLCO1C1_ENST00000540354.1_Frame_Shift_Del_p.K35fs|SLCO1C1_ENST00000545604.1_Frame_Shift_Del_p.K35fs|SLCO1C1_ENST00000545102.1_Intron Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 35 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CAGAAGAAAAGCAACCATGCT 0.373 13 32 --- --- --- --- SLCO1C1 53919 broad.mit.edu 37 12 20864418 20864418 + Frame_Shift_Del DEL A A - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:20864418delA ENST00000381552.1 + 5 871 c.503delA c.(502-504)gaafs p.E168fs SLCO1C1_ENST00000266509.2_Frame_Shift_Del_p.E168fs|SLCO1C1_ENST00000540354.1_Frame_Shift_Del_p.E168fs|SLCO1C1_ENST00000545604.1_Frame_Shift_Del_p.E168fs|SLCO1C1_ENST00000545102.1_Frame_Shift_Del_p.E50fs Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 168 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) TCAGTTATGGAAAAATCAAAA 0.343 27 42 --- --- --- --- SLC38A2 54407 broad.mit.edu 37 12 46764395 46764395 + Frame_Shift_Del DEL A A - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:46764395delA ENST00000256689.5 - 4 658 c.214delT c.(214-216)tccfs p.S72fs SLC38A2_ENST00000547252.1_5'UTR NM_018976.4 NP_061849.2 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 72 Regulates protein turnover upon amino acid deprivation (By similarity). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) ATTCCAAAGGAAGTAGTACCT 0.373 31 53 --- --- --- --- UTP20 27340 broad.mit.edu 37 12 101777390 101777405 + Frame_Shift_Del DEL CTCCCAATGATCATAG CTCCCAATGATCATAG - rs139767850 byFrequency TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr12:101777390_101777405delCTCCCAATGATCATAG ENST00000261637.4 + 60 8173_8188 c.7999_8014delCTCCCAATGATCATAG c.(7999-8016)ctcccaatgatcatagctfs p.LPMIIA2667fs NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 2667 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 AAAGCCGTATCTCCCAATGATCATAGCTCCTTTGTT 0.440 22 70 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48881488 48881489 + Frame_Shift_Ins INS - - AG TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr13:48881488_48881489insAG ENST00000267163.4 + 2 348_349 c.210_211insAG c.(211-213)agafs p.R71fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 71 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(3)|p.V70fs*39(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGATCATGTCAGAGAGAGAGC 0.312 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 50 11 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20876465 20876466 + Frame_Shift_Ins INS - - GGATATTC TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr14:20876465_20876466insGGATATTC ENST00000262715.5 - 2 173_174 c.133_134insGAATATCC c.(133-135)ctcfs p.L45fs TEP1_ENST00000556935.1_Frame_Shift_Ins_p.L45fs NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 45 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CTTCAAGGAGAGGATATCTGAG 0.520 21 22 --- --- --- --- XRCC3 7517 broad.mit.edu 37 14 104165908 104165909 + In_Frame_Ins INS - - GTGTCC TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr14:104165908_104165909insGTGTCC ENST00000553264.1 - 6 1362_1363 c.566_567insGGACAC c.(565-567)acc>acGGACACc p.189_189T>TDT KLC1_ENST00000557450.1_Intron|KLC1_ENST00000334553.6_Intron|KLC1_ENST00000555836.1_Intron|XRCC3_ENST00000352127.7_In_Frame_Ins_p.189_189T>TDT|KLC1_ENST00000348520.6_Intron|XRCC3_ENST00000445556.1_In_Frame_Ins_p.189_189T>TDT|XRCC3_ENST00000555055.1_In_Frame_Ins_p.189_189T>TDT|XRCC3_ENST00000554913.1_In_Frame_Ins_p.189_189T>TDT|KLC1_ENST00000554280.1_Intron|XRCC3_ENST00000554974.1_5'UTR|KLC1_ENST00000452929.2_Intron O43542 XRCC3_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 3 189 DNA recombination|DNA repair mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity endometrium(1)|large_intestine(1)|ovary(1)|prostate(1) 4 Melanoma(154;0.155)|all_epithelial(191;0.19) Epithelial(152;0.239) ACTCCAACAAGGTGTCCTGTGG 0.584 Direct reversal of damage;Homologous recombination 13 10 --- --- --- --- MYO9A 4649 broad.mit.edu 37 15 72338831 72338843 + Frame_Shift_Del DEL ATAGCCCCAGGAT ATAGCCCCAGGAT - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr15:72338831_72338843delATAGCCCCAGGAT ENST00000356056.5 - 2 534_546 c.62_74delATCCTGGGGCTAT c.(61-75)tatcctggggctattfs p.YPGAI21fs MYO9A_ENST00000564571.1_Frame_Shift_Del_p.YPGAI21fs|MYO9A_ENST00000424560.1_Frame_Shift_Del_p.YPGAI21fs|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Frame_Shift_Del_p.YPGAI21fs NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 21 Ras-associating. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CCCTTCTGAAATAGCCCCAGGATATATCCGTAA 0.394 14 87 --- --- --- --- H3F3B 3021 broad.mit.edu 37 17 73774771 73774771 + Frame_Shift_Del DEL C C - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:73774771delC ENST00000254810.4 - 4 448 c.316delG c.(316-318)gaafs p.E106fs H3F3B_ENST00000587560.1_Frame_Shift_Del_p.E106fs|H3F3B_ENST00000592643.1_Frame_Shift_Del_p.S81fs|H3F3B_ENST00000586607.1_Frame_Shift_Del_p.E106fs|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000589599.1_Frame_Shift_Del_p.E106fs|H3F3B_ENST00000591890.1_3'UTR NM_005324.3 NP_005315.1 P84243 H33_HUMAN H3 histone, family 3B (H3.3B) 106 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding large_intestine(1)|lung(4)|ovary(2)|skin(1) 8 all_cancers(13;1.5e-07) all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) TTGGTATCTTCGAACAGACCC 0.582 52 54 --- --- --- --- CBX4 8535 broad.mit.edu 37 17 77808240 77808241 + In_Frame_Ins INS - - GTG rs3833850 TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr17:77808240_77808241insGTG ENST00000269397.4 - 5 1377_1378 c.1200_1201insCAC c.(1198-1203)cacgcc>cacCACgcc p.400_401insH NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 400 His-rich.|Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) AGGCCGACGGCgtggtggtggt 0.703 5 10 --- --- --- --- SPO11 23626 broad.mit.edu 37 20 55906993 55906993 + Frame_Shift_Del DEL A A - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr20:55906993delA ENST00000371263.3 + 2 345 c.236delA c.(235-237)gaafs p.E79fs SPO11_ENST00000345868.4_Intron|SPO11_ENST00000371260.4_Intron NM_012444.2 NP_036576.1 Q9Y5K1 SPO11_HUMAN SPO11 meiotic protein covalently bound to DSB 79 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2) 18 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) TCAAGCTGGGAAAACATAAAG 0.303 Editing and processing nucleases 20 89 --- --- --- --- ANKRD20A11P 391267 broad.mit.edu 37 21 15343746 15343749 + RNA DEL TCTG TCTG - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr21:15343746_15343749delTCTG ENST00000344693.5 - 0 736 NR_027270.1 CTCTGTGCTTTCTGATGTGCTGCT 0.407 3 3 --- --- --- --- RCAN1 1827 broad.mit.edu 37 21 35987116 35987116 + Frame_Shift_Del DEL G G - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr21:35987116delG ENST00000313806.4 - 1 325 c.195delC c.(193-195)cccfs p.P65fs NM_004414.5 NP_004405.3 P53805 RCAN1_HUMAN regulator of calcineurin 1 65 blood circulation|calcium-mediated signaling|central nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 TGGTGGCGCTGGGCAGGTCCT 0.746 2 4 --- --- --- --- RUNX1 861 broad.mit.edu 37 21 36171742 36171755 + Frame_Shift_Del DEL GTTGGATCTGCCTT GTTGGATCTGCCTT - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr21:36171742_36171755delGTTGGATCTGCCTT ENST00000344691.4 - 5 2306_2319 c.729_742delAAGGCAGATCCAAC c.(727-744)acaaggcagatccaaccafs p.RQIQP244fs RUNX1_ENST00000399240.1_Frame_Shift_Del_p.RQIQP180fs|RUNX1_ENST00000325074.5_Frame_Shift_Del_p.RQIQP259fs|RUNX1_ENST00000300305.3_Frame_Shift_Del_p.RQIQP271fs|RUNX1_ENST00000437180.1_Frame_Shift_Del_p.RQIQP271fs NM_001001890.2 NP_001001890.1 Q01196 RUNX1_HUMAN runt-related transcription factor 1 244 Pro/Ser/Thr-rich. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 452 GGTGGGGATGGTTGGATCTGCCTTGTATCTGAAG 0.458 T """RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4""" """AML, preB- ALL, T-ALL""" 50 16 --- --- --- --- SMC1B 27127 broad.mit.edu 37 22 45809417 45809418 + Frame_Shift_Del DEL TT TT - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chr22:45809417_45809418delTT ENST00000357450.4 - 1 30_31 c.31_32delAA c.(31-33)aatfs p.N11fs SMC1B_ENST00000404354.3_Frame_Shift_Del_p.N11fs NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 11 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CGACTTGAAATTTTCCACAAGC 0.649 5 5 --- --- --- --- STAG2 10735 broad.mit.edu 37 X 123197803 123197813 + Frame_Shift_Del DEL GAGTTCACAAT GAGTTCACAAT - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e562ad5d-3390-4a69-b6b8-9de89a45a8f4 e11d1434-d7df-46a5-9da5-9dc08e5a9c4c g.chrX:123197803_123197813delGAGTTCACAAT ENST00000371160.1 + 20 2217_2227 c.1927_1937delGAGTTCACAAT c.(1927-1938)gagttcacaatcfs p.EFTI643fs STAG2_ENST00000354548.5_Frame_Shift_Del_p.EFTI574fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Del_p.EFTI643fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.EFTI643fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.EFTI643fs|STAG2_ENST00000371145.3_Frame_Shift_Del_p.EFTI643fs NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 643 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 CTGTAATGAAGAGTTCACAATCTTCAACAGA 0.360 17 2 --- --- --- ---