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 KNTC1 9735 broad.mit.edu 37 12 123087269 123087269 + Missense_Mutation SNP A A C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr12:123087269A>C ENST00000333479.7 + 46 4984 c.4807A>C c.(4807-4809)Aac>Cac p.N1603H KNTC1_ENST00000537348.1_Missense_Mutation_p.N28H|KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1603 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 p.N1603H(1) 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) CACAGCACAGAACTTCTGGAA 0.353000 7 36 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316110 30316110 + Silent SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr10:30316110G>C ENST00000375377.1 - 3 3068 c.2967C>G c.(2965-2967)ccC>ccG p.P989P NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 989 p.P989P(1) breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 GATAGGACGCGGGCAGTGGTT 0.532000 37 94 0 0 1 0 0 HLA-C 3107 broad.mit.edu 37 6 31239513 31239513 + Missense_Mutation SNP C C T rs41548913 TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr6:31239513C>T ENST00000383329.3 - 2 220 c.206G>A c.(205-207)gGg>gAg p.G69E HLA-C_ENST00000376228.5_Missense_Mutation_p.G69E Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 69 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 p.G69E(5) 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 CCGCGGCTCCCCTCTCGGACT 0.697000 4 59 0 0 1 0 0 GALNT8 26290 broad.mit.edu 37 12 4872541 4872541 + Silent SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr12:4872541C>T ENST00000252318.2 + 8 1819 c.1482C>T c.(1480-1482)atC>atT p.I494I NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 494 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.I494I(1) 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 TCCACACCATCGTGGGCTATG 0.413000 29 64 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274416 39274416 + Missense_Mutation SNP C C T rs408579 by1000genomes TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr17:39274416C>T ENST00000391413.2 - 1 190 c.152G>A c.(151-153)aGg>aAg p.R51K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51K(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCACTGGGGCCTGCAGCAGCT 0.672000 3 58 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168104901 168104901 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:168104901G>A ENST00000409195.1 + 9 7088 c.6999G>A c.(6997-6999)aaG>aaA p.K2333K XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.K2333K|XIRP2_ENST00000409273.1_Silent_p.K2111K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2158 actin cytoskeleton organization cell junction actin binding p.K2333K(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CCACAGAGAAGATAAAGGCTG 0.433000 31 80 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2813050 2813050 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr16:2813050C>T ENST00000301740.8 + 11 3070 c.2521C>T c.(2521-2523)Cat>Tat p.H841Y NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 841 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding p.H841Y(1) breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 TTCATCTCCTCATCCTAAAGT 0.493000 43 102 0 0 1 0 0 BBS1 582 broad.mit.edu 37 11 66282099 66282099 + Nonsense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr11:66282099C>T ENST00000419755.3 + 4 571 c.493C>T c.(493-495)Caa>Taa p.Q165* BBS1_ENST00000393994.2_Nonsense_Mutation_p.Q128*|BBS1_ENST00000455748.2_Nonsense_Mutation_p.Q128*|BBS1_ENST00000537537.1_Silent_p.P31P|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Nonsense_Mutation_p.Q128* p.Q128*(1) CAGCCTGCCCCAATTGCCTCC 0.507000 6 79 0 0 1 0 0 CMSS1 84319 broad.mit.edu 37 3 99895199 99895199 + Missense_Mutation SNP T T G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr3:99895199T>G ENST00000421999.2 + 9 842 c.696T>G c.(694-696)ttT>ttG p.F232L CMSS1_ENST00000489081.1_Missense_Mutation_p.F214L NM_032359.3 NP_115735.2 cms1 ribosomal small subunit homolog (yeast) p.F232L(1) CCTTAAAATTTCTGGTTTTTG 0.388000 9 22 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50682674 50682674 + Missense_Mutation SNP A A G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr22:50682674A>G ENST00000439308.2 - 1 707 c.215T>C c.(214-216)aTg>aCg p.M72T TUBGCP6_ENST00000248846.5_Missense_Mutation_p.M72T NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 72 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding p.M72T(1) breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-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) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) AAAGGACAACATGAGGATCTT 0.517000 34 35 0 0 1 0 0 PRRG3 79057 broad.mit.edu 37 X 150869297 150869297 + Missense_Mutation SNP G G C rs139807152 byFrequency TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chrX:150869297G>C ENST00000370353.3 + 4 878 c.488G>C c.(487-489)cGg>cCg p.R163P PRRG3_ENST00000538575.1_Missense_Mutation_p.R163P Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) 163 extracellular region|integral to membrane calcium ion binding p.R163P(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3) 24 Acute lymphoblastic leukemia(192;6.56e-05) GGGCCCAGTCGGGGGGGCAGG 0.672000 18 14 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117672562 117672562 + Splice_Site SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr12:117672562G>A ENST00000317775.6 - 21 3728 c.3041_splice c.e21-1 p.R1015_splice NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Splice_Site_p.R1049_splice NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1015 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.R1015W(2) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ATAGTTGACCGACTGCAGGAA 0.552000 4 24 0 0 1 0 0 ABCG5 64240 broad.mit.edu 37 2 44051074 44051074 + Silent SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:44051074G>T ENST00000543989.1 - 5 1822 c.117C>A c.(115-117)ggC>ggA p.G39G ABCG5_ENST00000260645.1_Silent_p.G434G|ABCG5_ENST00000405322.1_Silent_p.G263G Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 434 cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity p.G434G(1) breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CGTTCAGCATGCCTGTGTACG 0.527000 5 37 0.0477658 0.0491463 1 1 0 NUFIP2 57532 broad.mit.edu 37 17 27613317 27613317 + Silent SNP G G A rs150088850 TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr17:27613317G>A ENST00000225388.4 - 2 1753 c.1695C>T c.(1693-1695)taC>taT p.Y565Y NUFIP2_ENST00000579665.1_Intron NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 565 nucleus|polysomal ribosome protein binding|RNA binding p.Y565Y(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) TCTCCAGCTCGTAAGCCTTGG 0.463000 7 53 0 0 1 0 0 METTL4 64863 broad.mit.edu 37 18 2567170 2567170 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr18:2567170G>C ENST00000319888.6 - 2 844 c.46C>G c.(46-48)Ctt>Gtt p.L16V METTL4_ENST00000574538.1_Missense_Mutation_p.L16V Q8N3J2 METL4_HUMAN methyltransferase like 4 16 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process methyltransferase activity|nucleic acid binding p.L16V(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 ATAAAAGAAAGATGATCCAGT 0.393000 23 33 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229771675 229771675 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:229771675G>A ENST00000258243.2 + 4 1451 c.1315G>A c.(1315-1317)Gag>Aag p.E439K NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 439 nucleolus p.E439K(1) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 GATCGATGCCGAGGTAACAGA 0.498000 30 71 0 0 1 0 0 AGFG2 3268 broad.mit.edu 37 7 100159952 100159952 + Silent SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr7:100159952C>T ENST00000300176.4 + 7 1070 c.948C>T c.(946-948)gaC>gaT p.D316D AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 316 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.D316D(2) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GCCTCGCAGACGTGGGCAGCT 0.637000 7 31 0 0 1 0 0 GOT1 2805 broad.mit.edu 37 10 101163595 101163595 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr10:101163595G>C ENST00000370508.5 - 6 706 c.679C>G c.(679-681)Cag>Gag p.Q227E GOT1_ENST00000543866.1_Missense_Mutation_p.Q206E NM_002079.2 NP_002070.1 P17174 AATC_HUMAN glutamic-oxaloacetic transaminase 1, soluble 227 aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus cytosol L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding p.Q227E(1)|p.Q227*(1) endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2) 16 Ovarian(717;0.028)|Colorectal(252;0.234) Epithelial(162;4.76e-10)|all cancers(201;3.84e-08) L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GCGAAGCCCTGATAGGCTGAG 0.542000 12 31 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106431460 106431460 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:106431460G>C ENST00000407775.2 + 2 379 c.129G>C c.(127-129)gaG>gaC p.E43D ZFPM2_ENST00000520492.1_5'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 43 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.E43D(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TTCCATTGGAGGAAAGCTTTT 0.408000 14 45 0 0 1 0 0 ITGA10 8515 broad.mit.edu 37 1 145535838 145535838 + Silent SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:145535838C>T ENST00000369304.3 + 16 2201 c.2026C>T c.(2026-2028)Ctg>Ttg p.L676L ITGA10_ENST00000539363.1_Silent_p.L533L|ITGA10_ENST00000538811.1_Silent_p.L545L NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 676 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity p.L676L(1) NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGCAGTCTGTCTGACTGCAGC 0.557000 44 66 0 0 1 0 0 HOXB5 3215 broad.mit.edu 37 17 46671010 46671010 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr17:46671010C>A ENST00000239151.5 - 1 313 c.35G>T c.(34-36)cGt>cTt p.R12L HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000465846.2_RNA NM_002147.3 NP_002138.1 P09067 HXB5_HUMAN homeobox B5 12 nucleus sequence-specific DNA binding p.R12L(1) large_intestine(1)|lung(2) 3 ATTTGGATAACGCCCCGAGAA 0.502000 3 65 1 1 1 1 0 REPS1 85021 broad.mit.edu 37 6 139241422 139241422 + Silent SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr6:139241422C>A ENST00000450536.2 - 12 2032 c.1458G>T c.(1456-1458)gtG>gtT p.V486V REPS1_ENST00000258062.5_Silent_p.V486V|REPS1_ENST00000415951.2_Silent_p.V459V|REPS1_ENST00000367663.4_Silent_p.V459V|REPS1_ENST00000409812.2_Silent_p.V459V Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 486 coated pit|plasma membrane calcium ion binding|SH3 domain binding p.V434V(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) CAGATGGTTTCACAAGTAATG 0.318000 16 72 6.94344e-10 8.23955e-10 1 1 0 GPR98 84059 broad.mit.edu 37 5 89923136 89923136 + Missense_Mutation SNP A A T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr5:89923136A>T ENST00000405460.2 + 7 877 c.781A>T c.(781-783)Agt>Tgt p.S261C NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 261 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 p.S261C(1) 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) GAAAAATGATAGTCCCGTGAG 0.353000 22 64 0 0 1 0 0 BRF1 2972 broad.mit.edu 37 14 105692426 105692426 + Missense_Mutation SNP A A C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr14:105692426A>C ENST00000546474.1 - 10 15987 c.1028T>G c.(1027-1029)cTg>cGg p.L343R BRF1_ENST00000551787.1_Intron|BRF1_ENST00000440513.3_Missense_Mutation_p.L228R|BRF1_ENST00000327359.3_Missense_Mutation_p.L228R|BRF1_ENST00000392557.4_Missense_Mutation_p.L139R|BRF1_ENST00000379937.2_Missense_Mutation_p.L316R|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000446501.2_Missense_Mutation_p.L105R NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 343 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding p.L228R(1)|p.L343R(1) NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) CAGGCTGGCCAGGCCCCCCTT 0.468000 15 65 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71795381 71795381 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:71795381C>T ENST00000258104.3 + 26 3000 c.2723C>T c.(2722-2724)aCg>aTg p.T908M DYSF_ENST00000409744.1_Missense_Mutation_p.T895M|DYSF_ENST00000394120.2_Missense_Mutation_p.T909M|DYSF_ENST00000409762.1_Missense_Mutation_p.T925M|DYSF_ENST00000409651.1_Missense_Mutation_p.T940M|DYSF_ENST00000429174.2_Missense_Mutation_p.T908M|DYSF_ENST00000413539.2_Missense_Mutation_p.T939M|DYSF_ENST00000409582.3_Missense_Mutation_p.T925M|DYSF_ENST00000410020.3_Missense_Mutation_p.T926M|DYSF_ENST00000410041.1_Missense_Mutation_p.T926M|DYSF_ENST00000409366.1_Missense_Mutation_p.T909M NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 908 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding p.T908M(1)|p.T926M(1) autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TCTGACGTCACGGGCAAGATC 0.592000 11 346 0 0 1 0 0 GINS4 84296 broad.mit.edu 37 8 41387758 41387758 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:41387758G>A ENST00000523277.2 + 2 204 c.37G>A c.(37-39)Gat>Aat p.D13N GINS4_ENST00000518671.1_Missense_Mutation_p.D13N|GINS4_ENST00000520710.1_Missense_Mutation_p.D13N|GINS4_ENST00000276533.3_Missense_Mutation_p.D13N Q9BRT9 SLD5_HUMAN GINS complex subunit 4 (Sld5 homolog) 13 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm p.D13N(1) 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) ACAGGACTCTGATGGGGGTAG 0.478000 17 52 0 0 1 0 0 ZNF473 25888 broad.mit.edu 37 19 50548183 50548183 + Silent SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr19:50548183C>T ENST00000595661.1 + 6 978 c.483C>T c.(481-483)acC>acT p.T161T CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Silent_p.T149T|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Silent_p.T161T|ZNF473_ENST00000270617.3_Silent_p.T161T Q8WTR7 ZN473_HUMAN zinc finger protein 473 161 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding p.T161T(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) CTGTGTCCACCGTTTCCACGG 0.468000 3 63 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79058500 79058500 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr15:79058500G>A ENST00000388820.4 - 19 3963 c.3753C>T c.(3751-3753)tcC>tcT p.S1251S NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1251 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.S1251S(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GACTAGGAGAGGAGTGGGTGC 0.662000 15 33 0 0 1 0 0 CD72 971 broad.mit.edu 37 9 35611857 35611857 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr9:35611857C>A ENST00000396757.1 - 8 1058 c.894G>T c.(892-894)tgG>tgT p.W298C CD72_ENST00000259633.4_Missense_Mutation_p.W298C|CD72_ENST00000490239.1_5'UTR P21854 CD72_HUMAN CD72 molecule 298 C-type lectin. axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity p.W298C(1) large_intestine(5)|liver(1)|lung(6) 12 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGAGGCCAGTCCAATATGAAT 0.433000 OREG0019172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 24 5.03518e-11 6.05583e-11 1 1 0 ALPK2 115701 broad.mit.edu 37 18 56246449 56246449 + Missense_Mutation SNP A A C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr18:56246449A>C ENST00000361673.3 - 4 1772 c.1559T>G c.(1558-1560)gTg>gGg p.V520G NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 520 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CTTTCCCCCCACTCTCTTGTC 0.522000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 109 0 0 1 0 0 ASUN 55726 broad.mit.edu 37 12 27066581 27066581 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr12:27066581G>A ENST00000261191.7 - 14 2150 c.1614C>T c.(1612-1614)acC>acT p.T538T ASUN_ENST00000539625.1_Silent_p.T437T NM_018164.2 NP_060634.2 Q9NVM9 M89BB_HUMAN asunder spermatogenesis regulator 538 cell division|mitosis|regulation of mitotic cell cycle protein binding p.T538T(1) CTCTGACAAGGGTTTCTAATT 0.393000 66 206 0 0 1 0 0 OR8B8 26493 broad.mit.edu 37 11 124310358 124310358 + Silent SNP A A C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr11:124310358A>C ENST00000328064.2 - 1 696 c.624T>G c.(622-624)ggT>ggG p.G208G NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G208G(2) cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CTGTGGGCACACCAATATCAA 0.488000 16 25 0 0 1 0 0 ARNT2 9915 broad.mit.edu 37 15 80869217 80869217 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr15:80869217G>A ENST00000533983.1 + 16 1830 c.1491G>A c.(1489-1491)aaG>aaA p.K497K ARNT2_ENST00000303329.4_Silent_p.K508K|ARNT2_ENST00000527771.1_Silent_p.K497K Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 508 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity p.K508K(1) NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) CGGAGAAGAAGATGATGAGCT 0.582000 27 68 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 4 123 0 0 1 0 0 MYO1H 283446 broad.mit.edu 37 12 109872885 109872885 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr12:109872885G>A ENST00000310903.5 + 21 2165 c.2059G>A c.(2059-2061)Gaa>Aaa p.E687K MYO1H_ENST00000431443.2_Missense_Mutation_p.E697K B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity p.E687K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 GTTTGCTACCGAAGATGCCTT 0.348000 11 21 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84605787 84605787 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr9:84605787G>C ENST00000344803.2 + 4 449 c.402G>C c.(400-402)aaG>aaC p.K134N NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 p.K134N(2) GGGTGTGTAAGAGAGCAACTG 0.552000 12 15 0 0 1 0 0 SLC18A3 6572 broad.mit.edu 37 10 50818879 50818879 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr10:50818879G>A ENST00000374115.3 + 1 533 c.93G>A c.(91-93)caG>caA p.Q31Q CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 31 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity p.Q31Q(1) endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 CCCGGCGGCAGAGGCGCCTGG 0.677000 3 13 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88847483 88847483 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr7:88847483G>C ENST00000333190.4 + 2 732 c.123G>C c.(121-123)aaG>aaC p.K41N NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 41 intracellular zinc ion binding p.K41N(2) 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) TTGCAGAAAAGAAGTCCACAG 0.343000 HNSCC(36;0.09) 3 33 0 0 1 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184596357 184596357 + Missense_Mutation SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr4:184596357G>T ENST00000334690.6 + 7 903 c.701G>T c.(700-702)aGt>aTt p.S234I TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S234I|TRAPPC11_ENST00000511409.1_3'UTR NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 234 p.S234I(1) GCTTTCTTCAGTGAGTTGAAA 0.249000 7 7 0.00448238 0.00474919 1 1 0 RANGAP1 5905 broad.mit.edu 37 22 41652800 41652800 + Missense_Mutation SNP A A C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr22:41652800A>C ENST00000455915.2 - 7 2272 c.803T>G c.(802-804)gTg>gGg p.V268G RANGAP1_ENST00000405486.1_Missense_Mutation_p.V268G|RANGAP1_ENST00000407260.4_Missense_Mutation_p.V213G|RANGAP1_ENST00000356244.3_Missense_Mutation_p.V268G P46060 RAGP1_HUMAN Ran GTPase activating protein 1 268 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity p.V268G(3) 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 AAAATTAATCACCTCCACCTG 0.637000 6 9 0 0 1 0 0 NCKIPSD 51517 broad.mit.edu 37 3 48719904 48719904 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr3:48719904G>A ENST00000294129.2 - 3 482 c.363C>T c.(361-363)acC>acT p.T121T NCKIPSD_ENST00000341520.4_Silent_p.T121T|NCKIPSD_ENST00000416649.2_Silent_p.T121T NM_016453.2 NP_057537.1 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain 121 cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding p.T121T(2) endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGTGGTCACTGGTTGATGAGG 0.582000 3 51 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27481580 27481580 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr16:27481580C>T ENST00000356183.4 - 31 4678 c.4663G>A c.(4663-4665)Gac>Aac p.D1555N GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1555N NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1555 transcription factor TFIIIC complex DNA binding|protein binding p.D1555N(1) breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GCCACCATGTCGTTTGTGGGC 0.537000 28 102 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201777216 201777216 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:201777216G>A ENST00000367296.4 + 18 4204 c.3784G>A c.(3784-3786)Gag>Aag p.E1262K NAV1_ENST00000367302.1_Missense_Mutation_p.E1215K|NAV1_ENST00000367300.3_Missense_Mutation_p.E1202K|NAV1_ENST00000367297.4_Missense_Mutation_p.E1254K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.E1259K|NAV1_ENST00000367295.1_Missense_Mutation_p.E868K NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1262 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding p.E1259K(1) breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 TGGTTCTACAGAGACTGCTTC 0.557000 27 48 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159660620 159660620 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr6:159660620C>A ENST00000297267.9 + 14 4452 c.4252C>A c.(4252-4254)Ctg>Atg p.L1418M FNDC1_ENST00000340366.6_Missense_Mutation_p.L1355M NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1418 extracellular region p.L1418M(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) TGGCACACCTCTGGCCAATGC 0.537000 5 3 0.184627 0.18567 1 1 0 SMARCA4 6597 broad.mit.edu 37 19 11100021 11100021 + Nonsense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr19:11100021C>T ENST00000358026.2 + 7 1431 c.1147C>T c.(1147-1149)Cag>Tag p.Q383* SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.Q383*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.Q383*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.Q383*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.Q383*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.Q383*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.Q383*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.Q383*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.Q383* NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 383 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.Q383*(2)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) ACACCGAATTCAGGAACTTGA 0.602000 """F, N, Mis""" NSCLC 11 40 0 0 1 0 0 ZNF48 197407 broad.mit.edu 37 16 30409150 30409150 + Missense_Mutation SNP C C G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr16:30409150C>G ENST00000320159.2 + 2 955 c.579C>G c.(577-579)atC>atG p.I193M NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2 NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2 Q96MX3 ZNF48_HUMAN zinc finger protein 48 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I193M(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 GCCCCACTATCTGTGGTGAAT 0.592000 10 29 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99764596 99764596 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:99764596C>T ENST00000370185.3 + 4 1041 c.544C>T c.(544-546)Cat>Tat p.H182Y LPPR4_ENST00000370184.1_Missense_Mutation_p.H24Y|LPPR4_ENST00000457765.1_Missense_Mutation_p.H182Y NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 182 phosphatidate phosphatase activity p.H182Y(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TATAGGTGTTCATGTATTTGG 0.348000 11 32 0 0 1 0 0 CNOT11 55571 broad.mit.edu 37 2 101874279 101874279 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:101874279G>A ENST00000289382.3 + 2 704 c.541G>A c.(541-543)Gaa>Aaa p.E181K NM_017546.4 NP_060016.3 CCR4-NOT transcription complex, subunit 11 p.E181K(1) AACTCCACCAGAAAAGTTTTT 0.413000 21 47 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185146488 185146488 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr3:185146488C>A ENST00000265026.3 + 2 453 c.119C>A c.(118-120)cCc>cAc p.P40H MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.P40H NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 40 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding p.P40H(2) NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) CACCCTTCTCCCAAGCTGCTC 0.532000 3 27 0.115264 0.117914 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11631220 11631220 + Nonsense_Mutation SNP T T A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr17:11631220T>A ENST00000262442.3 + 28 5863 c.5795T>A c.(5794-5796)tTg>tAg p.L1932* DNAH9_ENST00000454412.2_Nonsense_Mutation_p.L1932* NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1932 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.L1932*(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GTGGAGGTCTTGTCAGTGGTG 0.493000 12 15 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90660737 90660737 + Missense_Mutation SNP T T A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr6:90660737T>A ENST00000257749.4 - 7 1795 c.1088A>T c.(1087-1089)cAc>cTc p.H363L BACH2_ENST00000343122.3_Missense_Mutation_p.H363L|BACH2_ENST00000537989.1_Missense_Mutation_p.H363L|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 363 nucleus protein dimerization activity|sequence-specific DNA binding p.H363L(2) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CCTGGCAAAGTGCTGCTGAGA 0.547000 13 28 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216405452 216405452 + Missense_Mutation SNP T T C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:216405452T>C ENST00000366943.2 - 14 3222 c.2836A>G c.(2836-2838)Act>Gct p.T946A USH2A_ENST00000307340.3_Missense_Mutation_p.T946A|USH2A_ENST00000366942.3_Missense_Mutation_p.T946A O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 946 Laminin EGF-like 8. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.T946A(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGGCAGCCAGTGGCATTGCCT 0.358000 HNSCC(13;0.011) 29 50 0 0 1 0 0 MIOS 54468 broad.mit.edu 37 7 7612605 7612605 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr7:7612605G>A ENST00000340080.4 + 4 920 c.499G>A c.(499-501)Gaa>Aaa p.E167K MIOS_ENST00000405785.1_Missense_Mutation_p.E167K NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 167 p.E167K(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TTCAGCAGGTGAAACTGAAAC 0.383000 8 48 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814836 106814836 + Silent SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:106814836G>T ENST00000407775.2 + 8 2776 c.2526G>T c.(2524-2526)cgG>cgT p.R842R RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.R710R|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Silent_p.R710R|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.R573R|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 842 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.R842R(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGTCTGAGCGGACGACCACGT 0.458000 5 9 0.184627 0.18567 1 1 0 OR4D5 219875 broad.mit.edu 37 11 123810836 123810836 + Silent SNP T T C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr11:123810836T>C ENST00000307033.2 + 1 587 c.513T>C c.(511-513)ccT>ccC p.P171P NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P171P(1) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TCTGTGGGCCTGACAAGCTGG 0.488000 4 86 0 0 1 0 0 CRISP3 10321 broad.mit.edu 37 6 49704133 49704133 + Missense_Mutation SNP A A T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr6:49704133A>T ENST00000433368.2 - 3 298 c.229T>A c.(229-231)Tct>Act p.S77T CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000371159.4_Missense_Mutation_p.S85T|CRISP3_ENST00000263045.4_Missense_Mutation_p.S67T|CRISP3_ENST00000393666.1_Missense_Mutation_p.S54T NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 54 innate immune response proteinaceous extracellular matrix|specific granule p.S54T(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) GCAGGGGGAGATACTGCTCTC 0.463000 11 99 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542654 14542654 + Silent SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr18:14542654C>A ENST00000358970.5 - 1 491 c.492G>T c.(490-492)acG>acT p.T164T POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 164 p.T164T(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGTTCATGTCCGTGTCCCTGA 0.592000 4 100 0.00909568 0.00952371 1 1 0 THOP1 7064 broad.mit.edu 37 19 2813150 2813150 + Missense_Mutation SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr19:2813150G>T ENST00000307741.6 + 13 2149 c.1946G>T c.(1945-1947)gGc>gTc p.G649V THOP1_ENST00000586677.1_Missense_Mutation_p.G528V|THOP1_ENST00000395212.4_Missense_Mutation_p.G218V NM_003249.3 NP_003240.1 P52888 THOP1_HUMAN thimet oligopeptidase 1 649 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding p.G649F(1) NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1) 14 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) CTGAGACCCGGCGGTTCCGAG 0.677000 8 12 1.12685e-05 1.24583e-05 1 1 0 PCGF6 84108 broad.mit.edu 37 10 105108755 105108755 + Splice_Site SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr10:105108755C>A ENST00000369847.3 - 2 429 c.360_splice c.e2-1 p.R121_splice PCGF6_ENST00000337211.4_Splice_Site_p.R121_splice|PCGF6_ENST00000490296.1_5'UTR NM_001011663.1 NP_001011663.1 Q9BYE7 PCGF6_HUMAN polycomb group ring finger 6 121 negative regulation of transcription, DNA-dependent PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R121L(2) autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3) 8 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205) ATTAATCAGGCGCTGCAAATA 0.378000 12 37 1.08611e-07 1.26358e-07 1 1 0 PHLDB2 90102 broad.mit.edu 37 3 111638039 111638039 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr3:111638039C>A ENST00000431670.2 + 4 2251 c.1840C>A c.(1840-1842)Cag>Aag p.Q614K PHLDB2_ENST00000481953.1_Missense_Mutation_p.Q614K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.Q614K|PHLDB2_ENST00000495180.1_Missense_Mutation_p.Q200K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.Q641K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.Q614K NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 614 cytoplasm|intermediate filament cytoskeleton|plasma membrane p.Q614K(2)|p.Q641K(1) breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 CATAAATGATCAGATGGATGA 0.378000 16 58 7.07596e-05 7.68e-05 1 1 0 NDUFA8 4702 broad.mit.edu 37 9 124906576 124906576 + Nonsense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr9:124906576C>A ENST00000373768.3 - 4 604 c.463G>T c.(463-465)Gag>Tag p.E155* NDUFA8_ENST00000537618.1_Intron NM_014222.2 NP_055037.1 P51970 NDUA8_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa 155 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity p.E155*(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 NADH(DB00157) AGATCTCCCTCGATCTCAGGG 0.542000 17 14 9.16793e-09 1.07361e-08 1 1 0 SLC22A16 85413 broad.mit.edu 37 6 110763563 110763563 + Missense_Mutation SNP G G T rs140212592 TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr6:110763563G>T ENST00000368919.3 - 4 1133 c.1067C>A c.(1066-1068)aCg>aAg p.T356K SLC22A16_ENST00000330550.4_Missense_Mutation_p.T322K|SLC22A16_ENST00000439654.1_Missense_Mutation_p.T356K NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 356 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity p.T356K(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) TGTCCTTTTCGTAATGCTCCA 0.393000 34 78 5.43694e-19 6.76766e-19 1 1 0 ETS1 2113 broad.mit.edu 37 11 128354828 128354828 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr11:128354828G>A ENST00000392668.3 - 7 820 c.752C>T c.(751-753)tCg>tTg p.S251L ETS1_ENST00000319397.5_Missense_Mutation_p.S207L|ETS1_ENST00000526145.1_Missense_Mutation_p.S207L|ETS1_ENST00000531611.1_Missense_Mutation_p.S207L|ETS1_ENST00000345075.4_Missense_Mutation_p.S207L|ETS1_ENST00000535549.1_Intron NM_001143820.1 NP_001137292.1 P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 207 cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.S207L(1)|p.S251L(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) GAGAATGACCGAGGGGTAGTC 0.522000 29 24 0 0 1 0 0 CXCR1 3577 broad.mit.edu 37 2 219029334 219029334 + Missense_Mutation SNP C C G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:219029334C>G ENST00000295683.2 - 2 721 c.601G>C c.(601-603)Gtg>Ctg p.V201L NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 201 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity p.V201L(1) endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 ATCCGCAACACCATCCGCCAT 0.517000 7 39 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201749556 201749556 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:201749556G>A ENST00000367296.4 + 4 1654 c.1234G>A c.(1234-1236)Gaa>Aaa p.E412K NAV1_ENST00000367302.1_Missense_Mutation_p.E425K|NAV1_ENST00000367300.3_Missense_Mutation_p.E412K|NAV1_ENST00000367297.4_Missense_Mutation_p.E412K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.E412K|NAV1_ENST00000367295.1_Missense_Mutation_p.E21K NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 412 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding p.E412K(1) breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 TAGCTGGGATGAAAGCAGCTC 0.468000 16 49 0 0 1 0 0 CNOT11 55571 broad.mit.edu 37 2 101874347 101874347 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:101874347G>C ENST00000289382.3 + 2 772 c.609G>C c.(607-609)caG>caC p.Q203H NM_017546.4 NP_060016.3 CCR4-NOT transcription complex, subunit 11 p.Q203H(1) CGCCTCGCCAGATTGCACTGA 0.493000 29 46 0 0 1 0 0 ZNF48 197407 broad.mit.edu 37 16 30408675 30408675 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr16:30408675C>T ENST00000320159.2 + 2 480 c.104C>T c.(103-105)tCt>tTt p.S35F NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2 NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2 Q96MX3 ZNF48_HUMAN zinc finger protein 48 35 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S35F(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 AACGTGATTTCTCAGCCGAAT 0.468000 15 54 0 0 1 0 0 MLC1 23209 broad.mit.edu 37 22 50506929 50506929 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr22:50506929G>C ENST00000311597.5 - 10 1433 c.827C>G c.(826-828)tCt>tGt p.S276C MLC1_ENST00000431262.2_Missense_Mutation_p.S246C|MLC1_ENST00000395876.2_Missense_Mutation_p.S276C|MLC1_ENST00000450140.2_Missense_Mutation_p.S224C|MLC1_ENST00000535444.1_Missense_Mutation_p.S197C|MLC1_ENST00000538737.1_Missense_Mutation_p.S242C|MLC1_ENST00000483836.1_5'UTR NM_015166.3 NP_055981.1 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with subcortical cysts 1 276 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity p.S276C(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3) 18 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) CAGATATCCAGAGGCTGTGAA 0.522000 28 44 0 0 1 0 0 ITGB5 3693 broad.mit.edu 37 3 124578095 124578095 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr3:124578095G>A ENST00000296181.4 - 3 651 c.355C>T c.(355-357)Cgg>Tgg p.R119W NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 119 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity p.R119W(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) TCACCGGGCCGGAGGTTCACG 0.592000 20 55 0 0 1 0 0 FRK 2444 broad.mit.edu 37 6 116263687 116263687 + Missense_Mutation SNP A A G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr6:116263687A>G ENST00000606080.1 - 8 1854 c.1408T>C c.(1408-1410)Tgg>Cgg p.W470R FRK_ENST00000538210.1_Missense_Mutation_p.W328R NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related kinase 470 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.W470R(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) TCTGCATTCCAGCACTCCAAC 0.418000 29 66 0 0 1 0 0 CD99 4267 broad.mit.edu 37 X 2635666 2635666 + Missense_Mutation SNP A A T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chrX:2635666A>T ENST00000381192.3 + 3 303 c.121A>T c.(121-123)Act>Tct p.T41S CD99_ENST00000381187.3_Intron|CD99_ENST00000381184.1_Missense_Mutation_p.T41S|CD99_ENST00000482405.2_3'UTR NM_001277710.1|NM_002414.3 NP_001264639.1|NP_002405.1 P14209 CD99_HUMAN CD99 molecule 41 cell adhesion cytoplasm|integral to plasma membrane p.T41S(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 11 CAAGAAACCCACTGCAATCCC 0.408000 7 32 0 0 1 0 0 EFHB 151651 broad.mit.edu 37 3 19961408 19961408 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr3:19961408C>T ENST00000295824.9 - 3 1074 c.913G>A c.(913-915)Gaa>Aaa p.E305K EFHB_ENST00000344838.4_Missense_Mutation_p.E175K|EFHB_ENST00000498089.1_5'UTR NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 305 signal transduction proteinaceous extracellular matrix calcium ion binding p.E303K(1)|p.E305K(1) breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 AATACTCTTTCTACTCCAGCA 0.343000 18 61 0 0 1 0 0 WIPF1 7456 broad.mit.edu 37 2 175436481 175436481 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:175436481G>A ENST00000392547.2 - 5 1151 c.1052C>T c.(1051-1053)cCa>cTa p.P351L WIPF1_ENST00000359761.3_Missense_Mutation_p.P351L|WIPF1_ENST00000272746.5_Missense_Mutation_p.P351L|AC018890.6_ENST00000442996.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.P351L|WIPF1_ENST00000409891.1_Missense_Mutation_p.P351L|WIPF1_ENST00000392546.2_Missense_Mutation_p.P351L NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 351 Pro-rich. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding p.P351L(1) NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 TGAACGTCCTGGCGAAGGTAA 0.627000 25 33 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807577 143807577 + Missense_Mutation SNP A A C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr7:143807577A>C ENST00000408979.2 + 1 971 c.902A>C c.(901-903)cAc>cCc p.H301P NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H301P(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) GGCGCCCTCCACAGAGCACTC 0.463000 34 66 0 0 1 0 0 TSR1 55720 broad.mit.edu 37 17 2234267 2234267 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr17:2234267C>T ENST00000301364.4 - 9 2712 c.1633G>A c.(1633-1635)Gaa>Aaa p.E545K NM_018128.4 NP_060598.3 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 545 ribosome assembly nucleolus protein binding p.E545K(1) autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 20 TCTTTTTCTTCAACCTCTTTA 0.378000 7 22 0 0 1 0 0 IGHV3-53 28420 broad.mit.edu 37 14 107049106 107049106 + RNA SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr14:107049106C>T ENST00000390627.2 - 0 235 AAACCCAGCTCAGCCAAAACT 0.483000 22 86 0 0 1 0 0 SHISA2 387914 broad.mit.edu 37 13 26620830 26620830 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr13:26620830G>A ENST00000319420.3 - 2 764 c.709C>T c.(709-711)Cca>Tca p.P237S NM_001007538.1 NP_001007539.1 Q6UWI4 SHSA2_HUMAN shisa family member 2 237 multicellular organismal development endoplasmic reticulum membrane|integral to membrane p.P237S(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 17 CCTTGATGTGGCACAATCTGG 0.557000 3 56 0 0 1 0 0 NGLY1 55768 broad.mit.edu 37 3 25781184 25781184 + Silent SNP T T A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr3:25781184T>A ENST00000428257.1 - 5 872 c.765A>T c.(763-765)ggA>ggT p.G255G NGLY1_ENST00000280700.5_Silent_p.G255G|NGLY1_ENST00000422724.2_Intron|NGLY1_ENST00000417874.2_Silent_p.G213G|NGLY1_ENST00000396649.3_Silent_p.G255G NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 255 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding p.G255G(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 ACCTAGTCTGTCCACCACATT 0.423000 30 75 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29039000 29039000 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr18:29039000C>A ENST00000257189.4 + 5 460 c.377C>A c.(376-378)aCa>aAa p.T126K NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 126 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding p.T126K(1) breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TCCTAGATCACATGTCGGGCT 0.363000 14 22 2.31682e-05 2.53003e-05 1 1 0 MLF1 4291 broad.mit.edu 37 3 158322896 158322896 + Nonsense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr3:158322896C>T ENST00000359117.5 + 7 873 c.637C>T c.(637-639)Caa>Taa p.Q213* MLF1_ENST00000355893.5_Nonsense_Mutation_p.Q238*|MLF1_ENST00000469452.1_Nonsense_Mutation_p.Q170*|MLF1_ENST00000392822.3_Nonsense_Mutation_p.Q269*|MLF1_ENST00000484955.1_Nonsense_Mutation_p.Q213*|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000471745.1_Nonsense_Mutation_p.Q228*|MLF1_ENST00000482628.1_Nonsense_Mutation_p.Q213*|MLF1_ENST00000478894.2_Nonsense_Mutation_p.Q228* NM_001130156.2 NP_001123628.1 P58340 MLF1_HUMAN myeloid leukemia factor 1 238 cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein domain specific binding p.Q269*(1)|p.Q238*(1) large_intestine(3) 3 Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299) Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256) GGAGAAACCTCAACAAAGTCC 0.328000 T NPM1 AML 4 13 0 0 1 0 0 SUPT5H 6829 broad.mit.edu 37 19 39962250 39962250 + Silent SNP A A G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr19:39962250A>G ENST00000599117.1 + 21 2197 c.1830A>G c.(1828-1830)cgA>cgG p.R610R SUPT5H_ENST00000432763.2_Silent_p.R610R|SUPT5H_ENST00000402194.2_Silent_p.R606R|SUPT5H_ENST00000359191.6_Silent_p.R606R|SUPT5H_ENST00000598725.1_Silent_p.R610R O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 610 KOW 4. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity p.R610R(1) breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCTAGGGCCGAGAAGGGGAGA 0.552000 30 20 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 54048708 54048708 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr10:54048708G>A ENST00000373980.4 + 16 2267 c.1850G>A c.(1849-1851)aGa>aAa p.R617K PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.R320K|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.R590K|PRKG1_ENST00000401604.2_Missense_Mutation_p.R602K NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 602 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity p.R602K(1)|p.R617K(1) 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) CCATCAGAAAGATTAGGGAAT 0.308000 22 82 0 0 1 0 0 KPNA2 3838 broad.mit.edu 37 17 66042019 66042019 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr17:66042019G>C ENST00000537025.2 + 10 2099 c.1479G>C c.(1477-1479)gaG>gaC p.E493D KPNA2_ENST00000330459.3_Missense_Mutation_p.E493D|KPNA2_ENST00000582898.1_3'UTR P52292 IMA2_HUMAN karyopherin alpha 2 (RAG cohort 1, importin alpha 1) 493 DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity p.E493D(1) breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2) 22 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) GCTTAATTGAGAAGTATTTCT 0.318000 17 74 0 0 1 0 0 WDR25 79446 broad.mit.edu 37 14 100847837 100847837 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr14:100847837C>T ENST00000554175.1 + 2 755 c.576C>T c.(574-576)ggC>ggT p.192_192insG WDR25_ENST00000402312.3_Silent_p.G192G|WDR25_ENST00000554998.1_Silent_p.G192G|WDR25_ENST00000335290.6_Silent_p.G192G Q64LD2 WDR25_HUMAN WD repeat domain 25 p.G192G(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) CGGAGACAGGCAAGGGTAAAG 0.542000 5 87 0 0 1 0 0 EPRS 2058 broad.mit.edu 37 1 220160560 220160560 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:220160560C>A ENST00000366923.3 - 20 3231 c.2962G>T c.(2962-2964)Gac>Tac p.D988Y NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 988 Charged. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding p.D988Y(1) breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TTAGAAGGGTCTTTCCTTTGG 0.433000 24 65 4.59853e-10 5.49354e-10 1 1 0 TINAG 27283 broad.mit.edu 37 6 54245341 54245341 + Missense_Mutation SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr6:54245341G>T ENST00000259782.4 + 10 1364 c.1268G>T c.(1267-1269)gGa>gTa p.G423V NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 423 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity p.G423V(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) ACACTGAGAGGAGCACAAGGG 0.368000 11 13 2.80697e-09 3.30888e-09 1 1 0 GUCY2C 2984 broad.mit.edu 37 12 14778702 14778702 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr12:14778702C>T ENST00000261170.3 - 21 2533 c.2397G>A c.(2395-2397)atG>atA p.M799I NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 799 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity p.M799I(1) breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TTGGAAGCAACATAAAGTTAA 0.428000 26 82 0 0 1 0 0 PRMT8 56341 broad.mit.edu 37 12 3677968 3677968 + Missense_Mutation SNP A A G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr12:3677968A>G ENST00000382622.3 + 5 968 c.578A>G c.(577-579)tAt>tGt p.Y193C PRMT8_ENST00000452611.2_Missense_Mutation_p.Y184C|PRMT8_ENST00000261252.4_3'UTR NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 193 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity p.Y193C(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) TGTCTGTTCTATGAGTCCATG 0.547000 24 65 0 0 1 0 0 PDGFA 5154 broad.mit.edu 37 7 550631 550631 + Nonsense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr7:550631C>A ENST00000402802.3 - 4 675 c.268G>T c.(268-270)Gaa>Taa p.E90* PDGFA_ENST00000354513.5_Nonsense_Mutation_p.E90* NM_033023.4 NP_148983.1 P04085 PDGFA_HUMAN platelet-derived growth factor alpha polypeptide 90 actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity p.E90*(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15) GGGACAGCTTCCTCTGCAACG 0.687000 6 9 0.0215528 0.0223046 1 1 0 NLRP3 114548 broad.mit.edu 37 1 247587274 247587274 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:247587274C>A ENST00000366497.2 + 4 1309 c.529C>A c.(529-531)Cac>Aac p.H177N NLRP3_ENST00000391828.3_Missense_Mutation_p.H177N|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.H177N|NLRP3_ENST00000336119.3_Missense_Mutation_p.H177N|NLRP3_ENST00000391827.2_Missense_Mutation_p.H177N|NLRP3_ENST00000348069.2_Missense_Mutation_p.H177N NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 177 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.H177N(1) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CATCAAGGAGCACCGGAGCCA 0.557000 14 11 4.3838e-07 4.97017e-07 1 1 0 MSANTD2 79684 broad.mit.edu 37 11 124637469 124637469 + Missense_Mutation SNP T T C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr11:124637469T>C ENST00000526629.1 - 3 2040 c.593A>G c.(592-594)gAa>gGa p.E198G MSANTD2_ENST00000524950.1_3'UTR|MSANTD2_ENST00000374979.3_Missense_Mutation_p.E428G|MSANTD2_ENST00000239614.4_Missense_Mutation_p.E376G Q6P1R3 CK061_HUMAN Myb/SANT-like DNA-binding domain containing 2 428 p.E376G(1) AATACATTCTTCATAGCCAAT 0.502000 16 97 0 0 1 0 0 TTC39B 158219 broad.mit.edu 37 9 15189720 15189720 + Silent SNP T T G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr9:15189720T>G ENST00000380850.4 - 12 1212 c.1176A>C c.(1174-1176)gtA>gtC p.V392V TTC39B_ENST00000355694.2_Intron|TTC39B_ENST00000507993.1_Intron|TTC39B_ENST00000512701.1_Intron|TTC39B_ENST00000297615.5_Intron|TTC39B_ENST00000507285.1_Intron NM_001168340.1 NP_001161812.1 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 339 binding p.?(2) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1) 21 ATACTGAGCGTACATTTGGAA 0.448000 4 10 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907270 153907270 + Silent SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:153907270C>T ENST00000361217.4 - 18 3157 c.2739G>A c.(2737-2739)gtG>gtA p.V913V NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 913 Gln-rich. p.V913V(1)|p.V801V(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GATGTGCTGACACctgctcct 0.627000 13 24 0 0 1 0 0 NR5A2 2494 broad.mit.edu 37 1 200014594 200014594 + Missense_Mutation SNP A A T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:200014594A>T ENST00000367362.3 + 4 591 c.345A>T c.(343-345)caA>caT p.Q115H NR5A2_ENST00000236914.3_Missense_Mutation_p.Q69H|NR5A2_ENST00000544748.1_Missense_Mutation_p.Q43H NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 115 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding p.Q115H(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) GAACAGTCCAAAATAATAAAA 0.328000 9 36 0 0 1 0 0 ZNF250 58500 broad.mit.edu 37 8 146107103 146107103 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:146107103G>C ENST00000292579.7 - 6 1596 c.1480C>G c.(1480-1482)Ctg>Gtg p.L494V ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.L489V|ZNF250_ENST00000543949.1_Intron NM_001109689.3|NM_021061.4 NP_001103159.1|NP_066405.1 P15622 ZN250_HUMAN zinc finger protein 250 494 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L494V(1) endometrium(4)|kidney(2)|lung(8)|skin(1) 15 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) TGCACAATCAGAGTTGCTTTC 0.557000 5 14 0 0 1 0 0 DMBX1 127343 broad.mit.edu 37 1 46976626 46976626 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:46976626G>A ENST00000371956.4 + 3 383 c.368G>A c.(367-369)cGg>cAg p.R123Q DMBX1_ENST00000360032.3_Missense_Mutation_p.R118Q NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 123 Interacts with OXT2 and is required for repressor activity (By similarity). brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R123Q(1) endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) AAGAACCGCCGGGCCAAGTTC 0.627000 7 12 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 4 71 0 0 1 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858560 149858560 + Silent SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:149858560C>T ENST00000331380.2 + 1 36 c.36C>T c.(34-36)cgC>cgT p.R12R NM_003517.2 NP_003508.1 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 12 nucleosome assembly nucleosome|nucleus DNA binding p.R12R(1) NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1) 20 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GCAAGGCCCGCGCCAAGGCCA 0.587000 36 90 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10610574 10610574 + Nonsense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr19:10610574G>A ENST00000171111.5 - 2 683 c.136C>T c.(136-138)Cag>Tag p.Q46* KEAP1_ENST00000393623.2_Nonsense_Mutation_p.Q46* NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 46 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.Q46*(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TTGCCATGCTGGGAGGGCGTC 0.632000 22 50 0 0 1 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140741814 140741814 + Missense_Mutation SNP C C G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr5:140741814C>G ENST00000522605.1 + 1 2112 c.2112C>G c.(2110-2112)ttC>ttG p.F704L PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 p.F704L(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTCTTCTTCCTCGCGGTGA 0.582000 28 82 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39089319 39089319 + Silent SNP T T A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:39089319T>A ENST00000295373.6 - 4 666 c.540A>T c.(538-540)acA>acT p.T180T DHX57_ENST00000479345.2_5'UTR|AC018693.6_ENST00000442829.1_RNA NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 180 UBA. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding p.T180T(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) ATGGGGAGACTGTAAATTCTG 0.458000 8 35 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30732059 30732059 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr16:30732059G>C ENST00000262518.4 + 20 3398 c.3013G>C c.(3013-3015)Gaa>Caa p.E1005Q SRCAP_ENST00000344771.4_Missense_Mutation_p.E1005Q|SRCAP_ENST00000395059.2_Missense_Mutation_p.E1005Q NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1005 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity p.E1005Q(1) NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) ACCTAAGCAAGAAGGCCGGAC 0.552000 42 97 0 0 1 0 0 ARNT2 9915 broad.mit.edu 37 15 80869214 80869214 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr15:80869214G>A ENST00000533983.1 + 16 1827 c.1488G>A c.(1486-1488)aaG>aaA p.K496K ARNT2_ENST00000303329.4_Silent_p.K507K|ARNT2_ENST00000527771.1_Silent_p.K496K Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 507 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity p.K507K(1) NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) TAGCGGAGAAGAAGATGATGA 0.582000 27 65 0 0 1 0 0 GAPDH 2597 broad.mit.edu 37 12 6647123 6647123 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr12:6647123G>A ENST00000229239.5 + 8 1565 c.899G>A c.(898-900)gGc>gAc p.G300D GAPDH_ENST00000396856.1_Missense_Mutation_p.G225D|GAPDH_ENST00000396859.1_Missense_Mutation_p.G300D|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396858.1_Missense_Mutation_p.G258D|GAPDH_ENST00000396861.1_Missense_Mutation_p.G300D NM_002046.4 NP_002037.2 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 300 gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding p.G300D(1) central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4) 7 NADH(DB00157) GCTGGGGCTGGCATTGCCCTC 0.597000 OREG0021628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 49 0 0 1 0 0 PITRM1 10531 broad.mit.edu 37 10 3202411 3202411 + Silent SNP T T G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr10:3202411T>G ENST00000380989.2 - 8 941 c.903A>C c.(901-903)acA>acC p.T301T PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000224949.4_Silent_p.T301T|PITRM1_ENST00000451104.2_Silent_p.T269T|PITRM1-AS1_ENST00000601046.1_RNA NM_001242307.1|NM_014889.3 NP_001229236.1|NP_055704.2 E7ES23 E7ES23_HUMAN pitrilysin metallopeptidase 1 269 proteolysis metalloendopeptidase activity|zinc ion binding p.T301T(1) breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3) 33 TGTCCCAGGGTGTCTGAGCTG 0.468000 3 16 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116426804 116426804 + Missense_Mutation SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:116426804G>T ENST00000395715.3 - 7 3909 c.3332C>A c.(3331-3333)cCc>cAc p.P1111H TRPS1_ENST00000220888.5_Missense_Mutation_p.P1098H|TRPS1_ENST00000520276.1_Missense_Mutation_p.P1102H|TRPS1_ENST00000519076.1_Missense_Mutation_p.P852H NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 1098 Mediates interaction with RNF4 (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P1111H(1)|p.P1098H(1) autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) ATGTACAAAGGGAAGTCCAAA 0.463000 Langer-Giedion syndrome 24 43 1.64293e-13 2.01684e-13 1 1 0 SF3B1 23451 broad.mit.edu 37 2 198274563 198274563 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:198274563G>A ENST00000335508.5 - 7 926 c.835C>T c.(835-837)Cca>Tca p.P279S NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 279 Interaction with PPP1R8. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding p.P279S(1) NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) CCATGGCCTGGTGTCGCATGG 0.547000 Mis myelodysplastic syndrome 6 206 0 0 1 0 0 DUSP15 128853 broad.mit.edu 37 20 30451754 30451754 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr20:30451754G>A ENST00000278979.3 - 5 286 c.210C>T c.(208-210)ttC>ttT p.F70F DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000375966.4_Silent_p.F70F|DUSP15_ENST00000339738.5_Silent_p.F73F|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000398083.1_5'UTR Q9H1R2 DUS15_HUMAN dual specificity phosphatase 15 70 Tyrosine-protein phosphatase. cytoplasm|plasma membrane protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.F70F(1)|p.F73F(1) large_intestine(1)|lung(4)|pancreas(1)|stomach(1) 7 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGCAGTGGATGAAGTTGATAC 0.557000 17 57 0 0 1 0 0 GALNT2 2590 broad.mit.edu 37 1 230415081 230415081 + Silent SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:230415081G>C ENST00000366672.4 + 16 1665 c.1593G>C c.(1591-1593)ctG>ctC p.L531L GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000543760.1_Silent_p.L493L NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 531 Ricin B-type lectin. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.L531L(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) ACTCCAAGCTGAGGCACGTGG 0.582000 12 20 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248263401 248263401 + Missense_Mutation SNP A A G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:248263401A>G ENST00000366478.2 + 3 1061 c.724A>G c.(724-726)Aca>Gca p.T242A OR2L13_ENST00000358120.2_Missense_Mutation_p.T242A NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding p.T242A(2)|p.T242S(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CACCATTTCAACACATTTAAC 0.463000 5 101 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 30 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 136963676 136963676 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr6:136963676G>C ENST00000359015.4 - 12 2180 c.1820C>G c.(1819-1821)tCt>tGt p.S607C RP3-325F22.3_ENST00000432477.1_RNA|MAP3K5_ENST00000355845.4_5'UTR NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 607 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding p.S607C(1) NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) CCTGACAGAAGAGGCACTAAA 0.333000 40 69 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768163 31768163 + Missense_Mutation SNP C C G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr19:31768163C>G ENST00000240587.4 - 2 2863 c.2536G>C c.(2536-2538)Gat>Cat p.D846H NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 846 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D663H(1)|p.D846H(1) breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TCGGATATATCTGACAAGGCA 0.527000 58 47 0 0 1 0 0 MAP3K11 4296 broad.mit.edu 37 11 65375408 65375408 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr11:65375408C>A ENST00000309100.3 - 3 1539 c.1054G>T c.(1054-1056)Gca>Tca p.A352S MAP3K11_ENST00000530153.1_Missense_Mutation_p.A95S NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 352 Protein kinase. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity p.A352S(1) breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 ATAAGCTGTGCGAAGGGCTCG 0.612000 13 8 1.49906e-05 1.64711e-05 1 1 0 KIAA1432 57589 broad.mit.edu 37 9 5757362 5757362 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr9:5757362C>A ENST00000414202.2 + 17 2094 c.1903C>A c.(1903-1905)Cgc>Agc p.R635S KIAA1432_ENST00000251879.6_Missense_Mutation_p.R635S|KIAA1432_ENST00000449720.2_Missense_Mutation_p.R519S|KIAA1432_ENST00000418622.3_Missense_Mutation_p.R556S|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R556S NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 635 integral to membrane p.R556G(1)|p.R556S(1) breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TTCCATGTCACGCTACATTCC 0.423000 8 148 5.18039e-06 5.76319e-06 1 1 0 ZMIZ2 83637 broad.mit.edu 37 7 44799010 44799010 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr7:44799010G>C ENST00000309315.4 + 7 1067 c.944G>C c.(943-945)gGc>gCc p.G315A ZMIZ2_ENST00000265346.7_Missense_Mutation_p.G315A|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.G283A|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.G283A|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.G315A NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 315 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding p.G315A(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CTGCAGCAGGGCATGACCCAG 0.697000 15 59 0 0 1 0 0 IDH2 3418 broad.mit.edu 37 15 90634804 90634804 + Nonsense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr15:90634804C>T ENST00000330062.3 - 2 301 c.188G>A c.(187-189)tGg>tAg p.W63* IDH2_ENST00000540499.2_Nonsense_Mutation_p.W11*|IDH2_ENST00000539790.1_Intron|IDH2_ENST00000559482.1_Nonsense_Mutation_p.W63* NM_002168.2 NP_002159.2 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), mitochondrial 63 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding p.W63*(1) biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5) 1109 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) GATGAACTGCCAGATAATACG 0.562000 M GBM 3 105 0 0 1 0 0 IGHV3-73 28409 broad.mit.edu 37 14 107211125 107211125 + RNA SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr14:107211125C>A ENST00000390636.2 - 0 243 CTGGCGGACCCAGTGCATAGC 0.607000 17 40 1.99824e-07 2.30965e-07 1 1 0 KDM3B 51780 broad.mit.edu 37 5 137734048 137734048 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr5:137734048G>C ENST00000314358.5 + 10 3213 c.3013G>C c.(3013-3015)Gag>Cag p.E1005Q KDM3B_ENST00000542866.1_Missense_Mutation_p.E37Q|KDM3B_ENST00000394866.1_Missense_Mutation_p.E661Q NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1005 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.E1005Q(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 CGTAATGTCTGAGAAGGAGGC 0.473000 18 47 0 0 1 0 0 GPR22 2845 broad.mit.edu 37 7 107115456 107115456 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr7:107115456G>A ENST00000304402.4 + 3 2294 c.951G>A c.(949-951)ttG>ttA p.L317L COG5_ENST00000393603.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron NM_005295.2 NP_005286.2 Q99680 GPR22_HUMAN G protein-coupled receptor 22 317 integral to plasma membrane G-protein coupled receptor activity p.L317L(1) large_intestine(3)|lung(6)|ovary(2)|stomach(1) 12 TGTCTTTATTGATTATTTCTA 0.373000 8 55 0 0 1 0 0 ACADM 34 broad.mit.edu 37 1 76198356 76198356 + Missense_Mutation SNP A A C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:76198356A>C ENST00000370841.4 + 3 583 c.146A>C c.(145-147)cAa>cCa p.Q49P ACADM_ENST00000543667.1_5'UTR|ACADM_ENST00000370834.5_Missense_Mutation_p.Q49P|ACADM_ENST00000541113.1_Missense_Mutation_p.Q13P|ACADM_ENST00000420607.2_Missense_Mutation_p.Q53P NM_000016.4|NM_001127328.1 NP_000007.1|NP_001120800.1 P11310 ACADM_HUMAN acyl-CoA dehydrogenase, C-4 to C-12 straight chain 49 carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity p.Q49P(1) breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 18 AAAGAATTTCAAGCTACTGCT 0.348000 40 49 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19775898 19775898 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr21:19775898G>A ENST00000284885.3 - 1 75 c.42C>T c.(40-42)ctC>ctT p.L14L NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 14 proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 CATAGGAGCTGAGAGAATGAT 0.393000 14 80 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197019966 197019966 + Silent SNP T T A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:197019966T>A ENST00000367412.1 - 10 1642 c.1599A>T c.(1597-1599)ggA>ggT p.G533G F13B_ENST00000490002.1_5'UTR NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 533 Sushi 9. blood coagulation extracellular region p.G533G(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TAATAATGACTCCATGTTTAA 0.343000 12 45 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134073258 134073258 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr4:134073258G>A ENST00000264360.4 + 1 2789 c.1963G>A c.(1963-1965)Gag>Aag p.E655K NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 655 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E655K(1) 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) GCGGCCTTATGAGCTGGTGAT 0.692000 10 17 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10467205 10467205 + Missense_Mutation SNP T T G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:10467205T>G ENST00000382483.3 - 4 4626 c.4403A>C c.(4402-4404)cAg>cCg p.Q1468P NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1468 intracellular signal transduction p.Q1468P(1) breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GGAGCCACTCTGCCTCTCGCT 0.662000 34 78 0 0 1 0 0 PPA1 5464 broad.mit.edu 37 10 71973273 71973273 + Missense_Mutation SNP C C T rs11538284 TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr10:71973273C>T ENST00000373232.2 - 6 556 c.457G>A c.(457-459)Gac>Aac p.D153N PPA1_ENST00000373230.4_Missense_Mutation_p.D153N NM_021129.3 NP_066952.1 Q15181 IPYR_HUMAN pyrophosphatase (inorganic) 1 153 diphosphate metabolic process|tRNA aminoacylation for protein translation cytosol inorganic diphosphatase activity|magnesium ion binding p.D153N(2) breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2) 10 ACTTTCCAGTCGGTTTCCCCT 0.383000 3 71 0 0 1 0 0 TNKS 8658 broad.mit.edu 37 8 9609136 9609136 + Silent SNP T T G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:9609136T>G ENST00000310430.6 + 19 2876 c.2850T>G c.(2848-2850)gcT>gcG p.A950A TNKS_ENST00000518281.1_Silent_p.A713A NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 950 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding p.A950A(2) NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) ATATCAGAGCTTTGCTGATAG 0.393000 42 132 0 0 1 0 0 BLOC1S4 55330 broad.mit.edu 37 4 6718324 6718324 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr4:6718324C>T ENST00000320776.3 + 1 483 c.388C>T c.(388-390)Cgc>Tgc p.R130C NM_018366.2 NP_060836.1 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino p.R130C(1) CGAGATGCGGCGCATCTACAG 0.692000 9 10 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238048576 238048576 + Silent SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:238048576G>T ENST00000366570.4 - 9 1358 c.1200C>A c.(1198-1200)atC>atA p.I400I RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 400 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity p.I400I(1) breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCTGGACAGGGATCAGCTGGG 0.517000 8 21 5.18039e-06 5.76319e-06 1 1 0 ZC3H13 23091 broad.mit.edu 37 13 46559563 46559563 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr13:46559563C>T ENST00000242848.4 - 10 1937 c.1589G>A c.(1588-1590)gGc>gAc p.G530D ZC3H13_ENST00000282007.3_Missense_Mutation_p.G530D Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 530 Arg/Ser-rich. nucleic acid binding|zinc ion binding p.G530D(1) cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) ATGGTTTCGGCCATAACTCCG 0.463000 13 59 0 0 1 0 0 OCRL 4952 broad.mit.edu 37 X 128699793 128699793 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chrX:128699793C>A ENST00000371113.4 + 13 1454 c.1289C>A c.(1288-1290)cCt>cAt p.P430H OCRL_ENST00000357121.5_Missense_Mutation_p.P430H NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 430 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding p.P430H(1) breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 CTTTGCATGCCTGATGCCAAT 0.343000 3 88 0.150653 0.153236 1 1 0 CECR2 27443 broad.mit.edu 37 22 18022656 18022656 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr22:18022656G>A ENST00000262608.8 + 15 2761 c.2761G>A c.(2761-2763)Gag>Aag p.E921K CECR2_ENST00000400573.4_Missense_Mutation_p.E920K|CECR2_ENST00000400585.2_Missense_Mutation_p.E779K NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 962 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding p.E920K(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) GAGGGCACCGGAGAACAGTGA 0.522000 19 15 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72022764 72022764 + Silent SNP T T G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr12:72022764T>G ENST00000378743.3 - 20 4238 c.3880A>C c.(3880-3882)Aga>Cga p.R1294R NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1294 RNA processing intracellular metal ion binding p.R1294R(1) 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 ATAGGTTTTCTCCAAAACTTT 0.313000 4 27 0 0 1 0 0 AKR1D1 6718 broad.mit.edu 37 7 137761344 137761344 + Nonsense_Mutation SNP C C G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr7:137761344C>G ENST00000242375.3 + 1 122 c.80C>G c.(79-81)tCa>tGa p.S27* AKR1D1_ENST00000432161.1_Nonsense_Mutation_p.S27*|AKR1D1_ENST00000411726.2_Nonsense_Mutation_p.S27*|AKR1D1_ENST00000468877.2_Intron NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 27 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding p.S27*(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 GGTACCTACTCAGAACCTAAA 0.398000 8 12 0 0 1 0 0 PPP1R1C 151242 broad.mit.edu 37 2 182852547 182852547 + Silent SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:182852547G>T ENST00000280295.3 + 2 318 c.84G>T c.(82-84)ctG>ctT p.L28L PPP1R1C_ENST00000452904.1_Intron|PPP1R1C_ENST00000409702.1_Intron|PPP1R1C_ENST00000409137.3_Intron|PPP1R1C_ENST00000475249.1_Intron Q8WVI7 PPR1C_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 1C 27 signal transduction cytoplasm protein phosphatase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(2) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0628) GATATTAGCTGGGCTTTTGTC 0.443000 36 67 1.26612e-14 1.56506e-14 1 1 0 USP8 9101 broad.mit.edu 37 15 50769639 50769639 + Silent SNP T T G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr15:50769639T>G ENST00000433963.1 + 11 1661 c.1161T>G c.(1159-1161)tcT>tcG p.S387S USP8_ENST00000396444.3_Silent_p.S387S|USP8_ENST00000307179.4_Silent_p.S387S|USP8_ENST00000425032.3_Silent_p.S310S NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 387 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.S387S(1) central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) TTGCTGCTTCTAAATCTGATG 0.338000 17 53 0 0 1 0 0 FCN2 2220 broad.mit.edu 37 9 137777710 137777710 + Missense_Mutation SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr9:137777710G>T ENST00000350339.2 + 5 426 c.412G>T c.(412-414)Ggg>Tgg p.G138W FCN2_ENST00000291744.6_Missense_Mutation_p.G176W NM_015837.2 NP_056652.1 Q15485 FCN2_HUMAN ficolin (collagen/fibrinogen domain containing lectin) 2 176 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding p.G176W(1) breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) GTTCTGGCTGGGGAATGACAA 0.672000 10 19 2.27111e-07 2.60811e-07 1 1 0 FLT3LG 2323 broad.mit.edu 37 19 49982278 49982278 + Missense_Mutation SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr19:49982278G>T ENST00000595510.1 + 5 510 c.209G>T c.(208-210)cGg>cTg p.R70L FLT3LG_ENST00000600429.1_Missense_Mutation_p.R152L|FLT3LG_ENST00000597551.1_Missense_Mutation_p.R152L|FLT3LG_ENST00000344019.3_Missense_Mutation_p.R152L|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000596435.1_Missense_Mutation_p.R134L|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000594009.1_Missense_Mutation_p.R152L|FLT3LG_ENST00000204637.2_Missense_Mutation_p.R70L P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 152 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity p.R152L(1) large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) AACTTCTCCCGGTGCCTGGAG 0.637000 7 7 0.000157383 0.00016876 1 1 0 ROBO1 6091 broad.mit.edu 37 3 78710334 78710334 + Missense_Mutation SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr3:78710334G>T ENST00000436010.2 - 14 3046 c.2049C>A c.(2047-2049)gaC>gaA p.D683E ROBO1_ENST00000495273.1_Missense_Mutation_p.D686E|ROBO1_ENST00000467549.1_Missense_Mutation_p.D686E|ROBO1_ENST00000464233.1_Missense_Mutation_p.D722E Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 722 Fibronectin type-III 2. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding p.D699E(1)|p.D726E(1)|p.D686E(1)|p.D722E(1) breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) AAACTAACCAGTCTGATTCTC 0.398000 3 27 0.004672 0.0049208 1 1 0 MAGEE1 57692 broad.mit.edu 37 X 75648900 75648900 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chrX:75648900G>A ENST00000361470.2 + 1 855 c.577G>A c.(577-579)Gat>Aat p.D193N NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 193 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane p.D193N(2) breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 GCCCACCCCTGATGAGGGACC 0.697000 5 10 0 0 1 0 0 HSD3B1 3283 broad.mit.edu 37 1 120057020 120057020 + Missense_Mutation SNP T T C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:120057020T>C ENST00000235547.6 + 4 1019 c.880T>C c.(880-882)Tat>Cat p.Y294H HSD3B1_ENST00000528909.1_Missense_Mutation_p.Y292H|HSD3B1_ENST00000369413.3_Missense_Mutation_p.Y292H NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 292 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity p.Y292H(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) ATCCCTGATGTATTGGATTGG 0.473000 18 57 0 0 1 0 0 FAM160B2 64760 broad.mit.edu 37 8 21951987 21951987 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:21951987G>A ENST00000289921.7 + 2 128 c.82G>A c.(82-84)Gag>Aag p.E28K NM_022749.5 NP_073586.5 Q86V87 F16B2_HUMAN family with sequence similarity 160, member B2 28 p.E28K(1) endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9 GGCCTTCGTGGAGCACTGGAA 0.672000 18 34 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31746796 31746796 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr6:31746796G>A ENST00000375663.3 - 29 4114 c.3674C>T c.(3673-3675)tCg>tTg p.S1225L NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 1225 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity p.S1225L(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) AGGATAGCCCGAGGCAGCACG 0.657000 14 28 0 0 1 0 0 ME3 10873 broad.mit.edu 37 11 86267677 86267677 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr11:86267677C>A ENST00000543262.1 - 4 711 c.385G>T c.(385-387)Gtg>Ttg p.V129L ME3_ENST00000323418.6_Missense_Mutation_p.V67L|ME3_ENST00000359636.2_Missense_Mutation_p.V129L|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Missense_Mutation_p.V129L NM_001161586.1 NP_001155058.1 Q16798 MAON_HUMAN malic enzyme 3, NADP(+)-dependent, mitochondrial 129 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding p.V129L(1) endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) AACTTCTCCACGTCCGAAGTC 0.552000 14 25 0.000151284 0.000163204 1 1 0 THOP1 7064 broad.mit.edu 37 19 2813149 2813149 + Missense_Mutation SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr19:2813149G>T ENST00000307741.6 + 13 2148 c.1945G>T c.(1945-1947)Ggc>Tgc p.G649C THOP1_ENST00000586677.1_Missense_Mutation_p.G528C|THOP1_ENST00000395212.4_Missense_Mutation_p.G218C NM_003249.3 NP_003240.1 P52888 THOP1_HUMAN thimet oligopeptidase 1 649 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding p.G649F(1) NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1) 14 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) CCTGAGACCCGGCGGTTCCGA 0.677000 9 11 7.48243e-07 8.42957e-07 1 1 0 KCNV1 27012 broad.mit.edu 37 8 110984680 110984680 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:110984680G>A ENST00000524391.1 - 3 1830 c.798C>T c.(796-798)gaC>gaT p.D266D KCNV1_ENST00000297404.1_Silent_p.D266D Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 266 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity p.D266D(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) AGCGACACCTGTCCCGCACAC 0.532000 9 37 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 62038898 62038898 + Missense_Mutation SNP C C G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr10:62038898C>G ENST00000280772.1 - 3 416 c.225G>C c.(223-225)ttG>ttC p.L75F ANK3_ENST00000503366.1_Missense_Mutation_p.L58F|ANK3_ENST00000373827.2_Missense_Mutation_p.L69F NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 75 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.L75F(1) 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 GGAGAGCGTTCAACCCATTCT 0.438000 19 50 0 0 1 0 0 OR5H15 403274 broad.mit.edu 37 3 97888478 97888478 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr3:97888478C>T ENST00000356526.2 + 1 935 c.935C>T c.(934-936)tCa>tTa p.S312L NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S312L(2) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 GTTAAGGTTTCATACTAATAT 0.284000 5 21 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21234442 21234442 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:21234442G>C ENST00000233242.1 - 26 5425 c.5298C>G c.(5296-5298)ttC>ttG p.F1766L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1766 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.F1766L(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTTTTGAAGAGAAGTCCAGTG 0.373000 38 112 0 0 1 0 0 CYP7A1 1581 broad.mit.edu 37 8 59409214 59409214 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:59409214G>A ENST00000301645.3 - 3 994 c.857C>T c.(856-858)tCg>tTg p.S286L NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 286 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding p.S286L(1) breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) GTTTGCTTGCGATGCCCAGAG 0.423000 Neonatal Giant Cell Hepatitis 39 97 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13931342 13931342 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr5:13931342C>A ENST00000265104.4 - 2 173 c.69G>T c.(67-69)aaG>aaT p.K23N NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 23 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.K23N(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCTTCTCTCCCTTCAGTCTTT 0.383000 Kartagener syndrome 4 90 0.00024832 0.000264676 1 1 0 ZFYVE16 9765 broad.mit.edu 37 5 79734068 79734068 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr5:79734068G>A ENST00000338008.5 + 3 1744 c.1564G>A c.(1564-1566)Gca>Aca p.A522T ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A522T|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A522T NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 522 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity p.A522T(1) breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TGATGAAGGCGCAAAAAGTGG 0.353000 3 68 0 0 1 0 0 ZNF474 133923 broad.mit.edu 37 5 121488198 121488198 + Missense_Mutation SNP T T G rs150551514 by1000genomes TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr5:121488198T>G ENST00000296600.4 + 2 896 c.513T>G c.(511-513)tgT>tgG p.C171W ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA NM_207317.1 NP_997200.1 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 171 intracellular zinc ion binding p.C171W(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1) 21 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) GTGAATCCTGTGGCCGCACAT 0.532000 12 28 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111629071 111629071 + Splice_Site SNP C C G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr7:111629071C>G ENST00000428084.1 - 6 735 c.464_splice c.e6+1 p.E155_splice DOCK4_ENST00000437633.1_Splice_Site_p.E155_splice|DOCK4_ENST00000476846.1_5'UTR Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 155 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding p.E155Q(1)|p.E143Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) AATACTCACTCATTGCCCCAG 0.567000 4 7 0 0 1 0 0 PHKB 5257 broad.mit.edu 37 16 47533691 47533691 + Missense_Mutation SNP A A G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr16:47533691A>G ENST00000455779.1 + 4 355 c.170A>G c.(169-171)cAa>cGa p.Q57R PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000299167.8_Missense_Mutation_p.Q64R|PHKB_ENST00000323584.5_Missense_Mutation_p.Q64R|PHKB_ENST00000566044.1_Missense_Mutation_p.Q57R Q93100 KPBB_HUMAN phosphorylase kinase, beta 64 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity p.Q64R(2)|p.Q57R(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) CTGCTGTATCAAAGTCCAACT 0.473000 33 82 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160086373 160086373 + Missense_Mutation SNP C C G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:160086373C>G ENST00000263635.6 + 27 4673 c.4436C>G c.(4435-4437)cCa>cGa p.P1479R TANC1_ENST00000454300.1_Missense_Mutation_p.P1373R NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1479 cell junction|postsynaptic density|postsynaptic membrane binding p.P1479R(1) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 AGGTCCCAGCCATCCTCATCT 0.532000 28 65 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605416 140605416 + Missense_Mutation SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr5:140605416G>T ENST00000239449.4 + 1 2339 c.2339G>T c.(2338-2340)gGt>gTt p.G780V PCDHB14_ENST00000515856.2_Missense_Mutation_p.G627V NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 780 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.G780V(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATGACACTGGTAGGAATATG 0.373000 24 65 2.21704e-12 2.70296e-12 1 1 0 LOC100287934 100287934 broad.mit.edu 37 1 745371 745371 + RNA DEL A A - rs146246821 TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:745371delA ENST00000447500.1 - 0 95 TTTATTTCATAAGATAGCATT 0.299 3 6 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154842199 154842200 + In_Frame_Ins INS - - GCTGCT rs58327065 TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:154842199_154842200insGCTGCT ENST00000271915.3 - 1 556_557 c.241_242insAGCAGC c.(241-243)acc>AGCAGCacc p.80_81insSS NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 80 Poly-Gln. integral to membrane calmodulin binding p.Q80_P81insQQ(2) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGGATGCGGTGgctgctgctgc 0.698 5 5 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12958176 12958177 + Frame_Shift_Ins INS - - A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:12958176_12958177insA ENST00000276297.4 - 9 2078_2079 c.1669_1670insT c.(1669-1671)tccfs p.S557fs DLC1_ENST00000520226.1_Frame_Shift_Ins_p.S46fs|DLC1_ENST00000512044.2_Frame_Shift_Ins_p.S154fs|DLC1_ENST00000358919.2_Frame_Shift_Ins_p.S120fs NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 557 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TTGTTTTGGAGAAAAGACATCA 0.589 15 45 --- --- --- --- NRG1 3084 broad.mit.edu 37 8 32616840 32616841 + Frame_Shift_Ins INS - - G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:32616840_32616841insG ENST00000338921.4 + 11 1488_1489 c.971_972insG c.(970-972)agtfs p.S324fs NRG1_ENST00000519301.1_Frame_Shift_Ins_p.S266fs|NRG1_ENST00000287842.3_Frame_Shift_Ins_p.S313fs|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Frame_Shift_Ins_p.S321fs|NRG1_ENST00000521670.1_Frame_Shift_Ins_p.S316fs|NRG1_ENST00000539990.1_Frame_Shift_Ins_p.S159fs|NRG1_ENST00000405005.2_Frame_Shift_Ins_p.S316fs|NRG1_ENST00000523079.1_Frame_Shift_Ins_p.S313fs|NRG1_ENST00000287845.5_Frame_Shift_Ins_p.S287fs|NRG1_ENST00000287840.5_Frame_Shift_Ins_p.S316fs Q02297 NRG1_HUMAN neuregulin 1 316 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) GTATCTAAAAACGTCATCTCCA 0.396 20 75 --- --- --- --- LRRC37A6P 387646 broad.mit.edu 37 10 27539361 27539361 + RNA DEL G G - TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr10:27539361delG ENST00000574842.1 + 0 630 LRRC37A6P_ENST00000284414.4_RNA AGGCTCAGTTGGGGCCTCCTC 0.582 14 33 --- --- --- --- KTN1-AS1 100129075 broad.mit.edu 37 14 56014172 56014174 + RNA DEL AAG AAG - rs72015246 TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr14:56014172_56014174delAAG ENST00000554558.1 - 0 364 aaaaaaaaaaaagaaTTGGCACA 0.443 4 3 --- --- --- --- FAM174B 400451 broad.mit.edu 37 15 93198679 93198684 + In_Frame_Del DEL TGGAGC TGGAGC - rs66488707 TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr15:93198679_93198684delTGGAGC ENST00000327355.5 - 1 504_509 c.206_211delGCTCCA c.(205-213)aac>a p.SSN69del NM_207446.2 NP_997329.2 Q3ZCQ3 F174B_HUMAN family with sequence similarity 174, member B 69 integral to membrane endometrium(2)|lung(1) 3 CCACTGCTGTTGGAGCTGGAGCTGCC 0.714 7 7 --- --- --- --- C16orf11 146325 broad.mit.edu 37 16 613941 613942 + Frame_Shift_Ins INS - - C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr16:613941_613942insC ENST00000409413.3 + 2 926_927 c.647_648insC c.(646-648)accfs p.T216fs NM_145270.2 NP_660313.1 P0CG20 CP011_HUMAN chromosome 16 open reading frame 11 216 Pro-rich. central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 TACCCGCTCAGCCCCGGCCTCT 0.718 2 4 --- --- --- --- MAP2K3 5606 broad.mit.edu 37 17 21204251 21204251 + Frame_Shift_Del DEL G G - TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr17:21204251delG ENST00000342679.4 + 5 594 c.345delG c.(343-345)atfs p.M115fs MAP2K3_ENST00000361818.5_Frame_Shift_Del_p.M86fs|MAP2K3_ENST00000316920.6_Frame_Shift_Del_p.M86fs NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 115 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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 kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) ACATCAACATGCGCACGGTCG 0.587 10 119 --- --- --- --- LIF 3976 broad.mit.edu 37 22 30640019 30640019 + Frame_Shift_Del DEL T T - TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr22:30640019delT ENST00000249075.3 - 3 385 c.230delA c.(229-231)acfs p.N77fs LIF_ENST00000403987.3_Frame_Shift_Del_p.Q17fs NM_002309.4 NP_002300.1 P15018 LIF_HUMAN leukemia inhibitory factor 77 immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding breast(1)|lung(3)|skin(3) 7 Epithelial(10;0.171) CTTGTCCAGGTTGTTGGGGAA 0.642 8 30 --- --- --- ---