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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut SMAD7 4092 broad.mit.edu 37 18 46447842 46447842 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr18:46447842G>A uc002ldg.3 - 3 1468 c.1181C>T c.(1180-1182)aCc>aTc p.T394I SMAD7_uc002ldf.3_Missense_Mutation_p.T206I|SMAD7_uc010xde.2_Missense_Mutation_p.T179I|SMAD7_uc021ujr.1_Missense_Mutation_p.T393I NM_005904 NP_005895 O15105 SMAD7_HUMAN Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA. 394 MH2. BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 10 Colorectal(1;0.0518) GATCTGCACGGTAAAGCCCGT 0.587000 72 6 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23523587 23523587 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr22:23523587C>T uc002zww.3 + 0 1036 c.440C>T c.(439-441)cCc>cTc p.P147L BCR_uc002zwx.3_Missense_Mutation_p.P147L NM_004327 NP_004318 P11274 BCR_HUMAN Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA. 147 Kinase. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 GACCGGGGACCCCCCGCCAGC 0.761000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 57 5 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40903059 40903059 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:40903059G>A uc002onr.3 - 6 1469 c.1200C>T c.(1198-1200)ctC>ctT p.L400L PRX_uc002onq.3_Silent_p.L261L|PRX_uc002ons.3_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN Homo sapiens periaxin (PRX), transcript variant 2, mRNA. 400 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGGGCTCCAAGAGGGAAAGCC 0.607000 177 14 0 0 1 0 0 C12orf51 283450 broad.mit.edu 37 12 112600868 112600868 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:112600868G>A uc021reb.1 - 74 13092 c.12696C>T c.(12694-12696)atC>atT p.I4232I NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 CTGGGGGGGCGATCTTCATGG 0.627000 151 19 0 0 1 0 0 NHEJ1 79840 broad.mit.edu 37 2 219942832 219942832 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:219942832C>T uc002vjp.4 - 5 831 c.685G>A c.(685-687)Gga>Aga p.G229R NHEJ1_uc002vjq.4_Non-coding_Transcript NM_024782 NP_079058 Q9H9Q4 NHEJ1_HUMAN Homo sapiens nonhomologous end-joining factor 1 (NHEJ1), mRNA. 229 B cell differentiation|DNA recombination|T cell differentiation|central nervous system development|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation nonhomologous end joining complex|nucleus DNA binding|identical protein binding kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 12 Renal(207;0.0915) Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112) TGCTTCTGTCCCACTTGGACC 0.488000 Non-homologous end-joining 67 4 0 0 1 0 0 ODZ1 10178 broad.mit.edu 37 X 123615768 123615768 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:123615768C>T uc010nqy.3 - 21 3827 c.3763G>A c.(3763-3765)Gaa>Aaa p.E1255K ODZ1_uc011muj.2_Missense_Mutation_p.E1254K|ODZ1_uc004euj.3_Missense_Mutation_p.E1248K NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 1248 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 TAGAGTGATTCAGACACAGGG 0.418000 135 15 0 0 1 0 0 PIWIL2 55124 broad.mit.edu 37 8 22141766 22141766 + Nonsense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr8:22141766C>T uc003xbn.2 + 5 872 c.724C>T c.(724-726)Caa>Taa p.Q242* PIWIL2_uc011kzf.1_Nonsense_Mutation_p.Q242*|PIWIL2_uc010ltv.2_Nonsense_Mutation_p.Q242* NM_018068 NP_060538 Q8TC59 PIWL2_HUMAN Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA. 242 DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) AGCAGTTTATCAATATCATGT 0.358000 55 6 0 0 1 0 0 C12orf51 283450 broad.mit.edu 37 12 112691908 112691908 + Missense_Mutation SNP T C C TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:112691908T>C uc021reb.1 - 21 3350 c.2954A>G c.(2953-2955)aAc>aGc p.N985S C12orf51_uc010syk.1_Missense_Mutation_p.N529S|C12orf51_uc001tts.2_Missense_Mutation_p.N520S|C12orf51_uc001ttt.3_Missense_Mutation_p.N518S NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 TCCCAGTGTGTTGCCTCCATA 0.413000 105 11 0 0 1 0 0 OR1N1 138883 broad.mit.edu 37 9 125288863 125288863 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr9:125288863G>A uc004bmn.1 - 0 710 c.710C>T c.(709-711)tCc>tTc p.S237F NM_012363 NP_036495 Q8NGS0 OR1N1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA. 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 ACTGCAGGTGGAAAAGGCCTT 0.537000 94 6 0 0 1 0 0 PALM 5064 broad.mit.edu 37 19 746337 746337 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:746337C>T uc002lpm.1 + 8 881 c.687C>T c.(685-687)tcC>tcT p.S229S PALM_uc002lpn.1_Silent_p.S185S|PALM_uc010xfu.1_Silent_p.S94S NM_002579 NP_002570 O75781 PALM_HUMAN Homo sapiens paralemmin (PALM), transcript variant 1, mRNA. 229 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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)|Lung(535;0.201) CCCTGAGCTCCTCCGAGGTGG 0.667000 73 9 0 0 1 0 0 DKK2 27123 broad.mit.edu 37 4 107845734 107845734 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:107845734C>T uc003hyi.3 - 2 1202 c.497G>A c.(496-498)gGa>gAa p.G166E DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.G166E NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA. 166 Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway extracellular space p.G166R(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GTGTGGTCTTCCTAGATTCTG 0.393000 188 13 0 0 1 0 0 OAS3 4940 broad.mit.edu 37 12 113400697 113400697 + Nonsense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:113400697C>T uc001tug.3 + 8 2161 c.2074C>T c.(2074-2076)Cga>Tga p.R692* NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA. 692 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|RNA binding|nucleotidyltransferase activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 TGGCCAGCTTCGAAAACCCAG 0.567000 381 46 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17698260 17698260 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:17698260C>T uc002grm.3 + 2 2467 c.1998C>T c.(1996-1998)gcC>gcT p.A666A RAI1_uc002grn.1_Silent_p.A666A NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN Homo sapiens retinoic acid induced 1 (RAI1), mRNA. 666 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) AGCCGGAGGCCCTGCCCGACT 0.657000 84 8 0 0 1 0 0 PRSS55 203074 broad.mit.edu 37 8 10396092 10396092 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr8:10396092G>A uc003wta.3 + 4 888 c.848G>A c.(847-849)gGg>gAg p.G283E AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Intron|PRSS55_uc003wtb.3_Intron NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA. 283 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 AACACCCCAGGGATATACACC 0.547000 140 11 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10354649 10354649 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:10354649C>T uc002gmn.3 - 27 3970 c.3859G>A c.(3859-3861)Gaa>Aaa p.E1287K AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1287 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TGACCTGATTCTGTGTGTAAA 0.413000 102 6 0 0 1 0 0 KCNE1 3753 broad.mit.edu 37 21 35821548 35821548 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr21:35821548G>A uc021wit.1 - 0 385 c.385C>T c.(385-387)Cca>Tca p.P129S KCNE1_uc010gmp.3_Missense_Mutation_p.P129S|KCNE1_uc002ytz.3_Missense_Mutation_p.P129S|KCNE1_uc010gmq.3_Missense_Mutation_p.P129S|KCNE1_uc010gmr.3_Missense_Mutation_p.P129S|KCNE1_uc010gms.3_Missense_Mutation_p.P129S|KCNE1_uc002yua.3_Non-coding_Transcript NM_001127670 NP_001121142 P15382 KCNE1_HUMAN Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA. 129 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound lysosome delayed rectifier potassium channel activity|potassium channel regulator activity p.S128S(1) large_intestine(4)|lung(1)|ovary(2) 7 Indapamide(DB00808) GGGGTTCATGGGGAAGGCTTC 0.507000 255 28 0 0 1 0 0 TARS2 80222 broad.mit.edu 37 1 150471474 150471474 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:150471474C>T uc001euq.3 + 11 1510 c.1503C>T c.(1501-1503)ttC>ttT p.F501F TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Silent_p.F419F|TARS2_uc009wlt.3_Silent_p.F127F|TARS2_uc009wls.3_Silent_p.F371F NM_025150 NP_079426 Q9BW92 SYTM_HUMAN Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA. 501 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CATCTGGCTTCCTGGGGGACC 0.552000 158 14 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216270537 216270537 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:216270537C>T uc001hku.1 - 21 5033 c.4646G>A c.(4645-4647)cGa>cAa p.R1549Q NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 1549 Laminin G-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding 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) CACTTTTGTTCGAAAGCTGGC 0.388000 HNSCC(13;0.011) 60 8 0 0 1 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84518361 84518361 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:84518361G>A uc010ffz.1 + 0 556 c.419G>A c.(418-420)gGa>gAa p.G140E Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA. GTGACTGGGGGATTTTTCGGA 0.463000 184 16 0 0 1 0 0 CNOT4 4850 broad.mit.edu 37 7 135047828 135047828 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:135047828G>A uc011kpy.2 - 11 2282 c.1951C>T c.(1951-1953)Cca>Tca p.P651S CNOT4_uc011kpz.2_Missense_Mutation_p.P648S|CNOT4_uc003vst.3_Missense_Mutation_p.P580S|CNOT4_uc003vss.3_Missense_Mutation_p.P577S NM_001190850 NP_001177779 O95628 CNOT4_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 6, mRNA. 315 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 GTCTGTGATGGAGCAGCGCTG 0.557000 232 19 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49381132 49381132 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr10:49381132G>A uc001jgi.3 - 24 3411 c.3080C>T c.(3079-3081)gCa>gTa p.A1027V FRMPD2_uc001jgh.3_Missense_Mutation_p.A995V|FRMPD2_uc001jgj.3_Missense_Mutation_p.A996V|FRMPD2_uc001jgf.3_Missense_Mutation_p.A38V|FRMPD2_uc001jgg.3_5'UTR|FRMPD2_uc001jgk.3_5'UTR NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 1027 PDZ 2. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GACCAGTCTTGCAACCTAGAA 0.463000 89 5 0 0 1 0 0 ZNF281 23528 broad.mit.edu 37 1 200376666 200376666 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:200376666G>A uc001gve.3 - 1 2275 c.2168C>T c.(2167-2169)tCt>tTt p.S723F ZNF281_uc001gvf.1_Missense_Mutation_p.S723F|ZNF281_uc001gvg.1_Missense_Mutation_p.S687F|ZNF281_uc021phb.1_Missense_Mutation_p.S723F NM_012482 NP_036614 Q9Y2X9 ZN281_HUMAN Homo sapiens zinc finger protein 281 (ZNF281), mRNA. 723 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 TGAGGTAACAGATTGGCCGAA 0.428000 125 7 0 0 1 0 0 CNOT3 4849 broad.mit.edu 37 19 54646886 54646886 + Silent SNP C T T rs138664639 TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:54646886C>T uc002qdj.2 + 2 381 c.57C>T c.(55-57)tcC>tcT p.S19S CNOT3_uc010yel.2_Silent_p.S19S|CNOT3_uc002qdi.3_5'UTR|CNOT3_uc002qdk.2_Silent_p.S19S|CNOT3_uc010ere.2_5'Flank NM_014516 NP_055331 O75175 CNOT3_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA. 19 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) AGAAGGTGTCCGAGGGCGTGG 0.552000 284 12 0 0 1 0 0 ZNF385B 151126 broad.mit.edu 37 2 180634464 180634464 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:180634464G>A uc002unn.4 - 2 623 c.19C>T c.(19-21)Cta>Tta p.L7L NM_152520 NP_001106869 Q569K4 Z385B_HUMAN Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA. 7 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) AAGCCCCGTAGAAAATTTGCC 0.408000 91 9 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807159 143807159 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:143807159C>T uc011ktz.2 + 0 484 c.484C>T c.(484-486)Ctt>Ttt p.L162F NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA. 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L162I(2) endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) TGAAATTCTCCTTCTAAGGTT 0.527000 179 14 0 0 1 0 0 ZNF812 729648 broad.mit.edu 37 19 9801832 9801832 + Missense_Mutation SNP C T T rs62105698 by1000genomes TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:9801832C>T uc021uop.1 - 5 993 c.347G>A c.(346-348)gGt>gAt p.G116D ZNF812_uc010xkx.2_Missense_Mutation_p.G12D NM_001199814 NP_001186743 P0C7V5 ZN812_HUMAN Homo sapiens zinc finger protein 812 (ZNF812), mRNA. 116 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATAACAATTACCCTCAAAGAT 0.413000 56 6 0 0 1 0 0 C1QB 713 broad.mit.edu 37 1 22987431 22987431 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:22987431G>A uc001bgd.3 + 2 446 c.314G>A c.(313-315)gGa>gAa p.G105E NM_000491 NP_000482 P02746 C1QB_HUMAN Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA. 105 Collagen-like 2. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GGGGCCCCTGGAGCCCCAGGC 0.632000 115 8 0 0 1 0 0 MSLN 10232 broad.mit.edu 37 16 812724 812724 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr16:812724C>T uc002cjw.2 + 1 155 c.44C>T c.(43-45)aCc>aTc p.T15I MSLN_uc002cju.1_Missense_Mutation_p.T15I|MSLN_uc002cjt.1_Missense_Mutation_p.T15I|MSLN_uc010brd.1_Missense_Mutation_p.T15I NM_013404 NP_037536 Q13421 MSLN_HUMAN Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA. 15 TPAL -> DRP (in Ref. 2; AAC50348). cell adhesion Golgi apparatus|anchored to membrane|extracellular region|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) TCCTGTGGGACCCCCGCCCTC 0.687000 253 20 0 0 1 0 0 ACSL1 2180 broad.mit.edu 37 4 185698103 185698103 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:185698103G>A uc003iww.2 - 5 806 c.512C>T c.(511-513)tCg>tTg p.S171L ACSL1_uc011ckm.1_5'UTR|ACSL1_uc003iwt.1_Missense_Mutation_p.S171L|ACSL1_uc003iwu.1_Missense_Mutation_p.S171L|ACSL1_uc011ckn.1_Missense_Mutation_p.S137L NM_001995 NP_001986 P33121 ACSL1_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA. 171 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GATCACCATCGAATAAGCAAA 0.393000 37 6 0 0 1 0 0 HEMK1 51409 broad.mit.edu 37 3 50617645 50617645 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:50617645G>A uc003dau.3 + 9 1261 c.965G>A c.(964-966)aGg>aAg p.R322K HEMK1_uc003dav.3_Missense_Mutation_p.R322K NM_016173 NP_057257 Q9Y5R4 HEMK1_HUMAN Homo sapiens HemK methyltransferase family member 1 (HEMK1), mRNA. 322 DNA methylation DNA binding|N-methyltransferase activity|protein methyltransferase activity lung(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212) GCTGTGCGCAGGGACTTCTGT 0.572000 90 10 0 0 1 0 0 RAB4A 5867 broad.mit.edu 37 1 229433301 229433301 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:229433301C>T uc001hth.3 + 4 571 c.363C>T c.(361-363)atC>atT p.I121I NM_004578 NP_004569 P20338 RAB4A_HUMAN Homo sapiens RAB4A, member RAS oncogene family (RAB4A), mRNA. 116 GDP binding|GTP binding|GTPase activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.178) ACATTGTGATCATCCTTTGTG 0.413000 152 17 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40790158 40790158 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:40790158G>A uc002xkg.3 - 16 2700 c.2516C>T c.(2515-2517)tCc>tTc p.S839F PTPRT_uc010ggj.3_Missense_Mutation_p.S858F|PTPRT_uc010ggi.3_Missense_Mutation_p.S42F NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 839 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGTGGGCTGGGAAAGCTCCCC 0.597000 92 21 0 0 1 0 0 BIN1 274 broad.mit.edu 37 2 127811009 127811009 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:127811009C>T uc002tns.2 - 13 1636 c.1252G>A c.(1252-1254)Gac>Aac p.D418N BIN1_uc010yzf.2_Intron|BIN1_uc002tnt.2_Intron|BIN1_uc010yzg.2_Intron|BIN1_uc002tnu.2_Intron|BIN1_uc002tnv.2_Missense_Mutation_p.D375N|BIN1_uc002tnw.2_Intron|BIN1_uc002tnx.2_Intron|BIN1_uc002tny.2_Intron|BIN1_uc002tnz.2_Intron|BIN1_uc002toa.2_Intron|BIN1_uc002tob.2_Intron|BIN1_uc002toc.2_Intron NM_139343 NP_647593 O00499 BIN1_HUMAN Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA. 418 Clathrin-binding. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) TCCCAGAGGTCCCATGGAATT 0.607000 39 6 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559463 140559463 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:140559463C>T uc011dai.2 + 0 2093 c.1848C>T c.(1846-1848)ttC>ttT p.F616F PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 616 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGGGCTGTTCGGTGTGTGGG 0.692000 108 13 0 0 1 0 0 IGHE 3497 broad.mit.edu 37 14 106066414 106066414 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr14:106066414G>A uc001yrw.1 - 4 1330 c.1318C>T c.(1318-1320)Ccc>Tcc p.P440S abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.P387S|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_Non-coding_Transcript RecName: Full=Ig epsilon chain C region; CATTTACCGGGATTTACAGAC 0.597000 143 15 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189526279 189526280 + Nonsense_Mutation DNP CC TT TT TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:189526279_189526280CC>TT uc003fry.2 + 3 632_633 c.543_544CC>TT c.(541-546)ttccag>ttTTag p.Q182* TP63_uc003frx.2_Nonsense_Mutation_p.Q182*|TP63_uc003frz.2_Nonsense_Mutation_p.Q182*|TP63_uc010hzc.1_Nonsense_Mutation_p.Q182*|TP63_uc003fsa.2_Nonsense_Mutation_p.Q88*|TP63_uc003fsb.2_Nonsense_Mutation_p.Q88*|TP63_uc003fsc.2_Nonsense_Mutation_p.Q88*|TP63_uc003fsd.2_Nonsense_Mutation_p.Q88*|TP63_uc021xir.1_Nonsense_Mutation_p.Q88*|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Nonsense_Mutation_p.Q63* NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 182 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ACGTGTCCTTCCAGCAGTCGAG 0.634000 HNSCC(45;0.13) 109 10 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49446159 49446159 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr10:49446159G>A uc001jgi.3 - 7 1127 c.796C>T c.(796-798)Cca>Tca p.P266S FRMPD2_uc001jgh.3_Missense_Mutation_p.P235S|FRMPD2_uc001jgj.3_Missense_Mutation_p.P235S NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 266 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) TCTGCTCCTGGAAGAGCGCTG 0.617000 68 12 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45767374 45767374 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr22:45767374C>T uc003bgc.3 - 13 2342 c.2290G>A c.(2290-2292)Gaa>Aaa p.E764K SMC1B_uc003bgd.3_Missense_Mutation_p.E764K|SMC1B_uc003bge.1_Missense_Mutation_p.E547K NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA. 764 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TCTTGAAATTCTTTAATTCTT 0.294000 43 5 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32718649 32718649 + Nonsense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:32718649C>T uc010ezu.3 + 44 8517 c.8383C>T c.(8383-8385)Cga>Tga p.R2795* NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA. 2795 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ATTTCTTACTCGATTACAAGT 0.323000 63 6 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75828803 75828803 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr6:75828803G>A uc021zbv.1 - 44 7345 c.7310C>T c.(7309-7311)tCc>tTc p.S2437F COL12A1_uc021zbw.1_Missense_Mutation_p.S1273F|COL12A1_uc003phs.3_Missense_Mutation_p.S2437F|COL12A1_uc003pht.3_Missense_Mutation_p.S1273F NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 2437 VWFA 4. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CTCATCCTGGGACCGACCGTC 0.473000 120 6 0 0 1 0 0 BPIFA1 51297 broad.mit.edu 37 20 31827627 31827627 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:31827627C>T uc002wyt.4 + 3 409 c.339C>T c.(337-339)ccC>ccT p.P113P BPIFA1_uc002wyu.4_Silent_p.P113P|BPIFA1_uc002wyv.3_Silent_p.P113P NM_130852 NP_570913 Q9NP55 PLUNC_HUMAN Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA. 113 innate immune response extracellular region lipid binding TCACTGACCCCCAGCTGCTGG 0.517000 376 19 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179412733 179412733 + Missense_Mutation SNP T C C TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:179412733T>C uc021vsy.1 - 287 86141 c.85916A>G c.(85915-85917)aAg>aGg p.K28639R MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K22334R|TTN_uc021vta.1_Missense_Mutation_p.K22267R|TTN_uc021vtb.1_Missense_Mutation_p.K22142R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 29566 Fibronectin type-III 108. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGAGGCTCCTTAATGATGAC 0.448000 95 8 0 0 1 0 0 AKR1A1 10327 broad.mit.edu 37 1 46033816 46033816 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:46033816C>T uc021omx.1 + 6 937 c.519C>T c.(517-519)ctC>ctT p.L173L AKR1A1_uc021omy.1_Silent_p.L173L|AKR1A1_uc001cod.3_Silent_p.L173L|AKR1A1_uc001coe.3_Silent_p.L173L|AKR1A1_uc001cof.3_Missense_Mutation_p.S46L NM_001202414 NP_001189343 P14550 AK1A1_HUMAN Homo sapiens aldo-keto reductase family 1, member A1 (aldehyde reductase) (AKR1A1), transcript variant 3, mRNA. 173 glucose metabolic process alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding lung(3)|prostate(1)|urinary_tract(1) 5 Acute lymphoblastic leukemia(166;0.155) ATGACATACTCAGTGTGGCCT 0.567000 38 5 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33608285 33608285 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr6:33608285G>A uc021ywr.1 + 1 338 c.114G>A c.(112-114)gtG>gtA p.V38V NM_002224 NP_002215 Q14573 ITPR3_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA. 38 G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GCTGTGTGGTGGAGCCCGCGG 0.637000 290 40 0 0 1 0 0 FAM86FP 653113 broad.mit.edu 37 12 8384474 8384474 + RNA SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:8384474C>T uc010sgk.2 - 4 c.1314G>A Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA. TGGCCAGAAGCTGAAATGACG 0.577000 46 15 0 0 1 0 0 ODZ4 26011 broad.mit.edu 37 11 78380232 78380232 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr11:78380232C>T uc001ozl.4 - 31 7621 c.7158G>A c.(7156-7158)ggG>ggA p.G2386G ODZ4_uc001ozk.4_Silent_p.G611G NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 2386 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 TGTAGATCTCCCCATAGGCTG 0.488000 53 4 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995253 140995253 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:140995253C>T uc004fbt.3 + 3 2387 c.2063C>T c.(2062-2064)tCc>tTc p.S688F MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S347F NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 688 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GGGGAGGATTCCCTGTCTCCT 0.572000 HNSCC(15;0.026) 211 28 0 0 1 0 0 DUS3L 56931 broad.mit.edu 37 19 5790260 5790260 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:5790260G>A uc002mdc.3 - 1 282 c.185C>T c.(184-186)cCt>cTt p.P62L DUS3L_uc002mdd.3_Intron|DUS3L_uc010xiw.1_Non-coding_Transcript NM_020175 NP_064560 Q96G46 DUS3L_HUMAN Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA. 62 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 ATTGCCAGCAGGGTCTCCTAC 0.612000 126 15 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34090712 34090712 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:34090712G>A uc001bxm.1 - 33 5616 c.5439C>T c.(5437-5439)atC>atT p.I1813I CSMD2_uc001bxn.1_Silent_p.I1773I|CSMD2_uc001bxo.1_Silent_p.I686I NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1773 CUB 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGAGGCACTCGATCTCTGGCG 0.657000 110 8 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56549454 56549454 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:56549454C>T uc002qmj.3 + 9 2679 c.2679C>T c.(2677-2679)tcC>tcT p.S893S NLRP5_uc002qmi.3_Silent_p.S874S NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 893 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TTACGACCTCCCCCAGCCTGA 0.547000 107 6 0 0 1 0 0 METTL19 152992 broad.mit.edu 37 4 8465751 8465751 + Missense_Mutation SNP G T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:8465751G>T uc003glg.2 + 6 1261 c.1243G>T c.(1243-1245)Gat>Tat p.D415Y METTL19_uc003glf.1_Missense_Mutation_p.D174Y|METTL19_uc003glh.1_Missense_Mutation_p.D23Y NM_152544 NP_689757 Q8IYL2 TRM44_HUMAN Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA. 415 tRNA processing cytoplasm methyltransferase activity|nucleic acid binding|zinc ion binding kidney(1)|lung(6)|ovary(3)|prostate(1) 11 CCTTTTCCCTGATGTTGATTG 0.423000 187 18 8.00594e-06 8.04922e-06 1 1 0 LAS1L 81887 broad.mit.edu 37 X 64737875 64737875 + Missense_Mutation SNP A G G TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:64737875A>G uc004dwa.2 - 11 2010 c.1919T>C c.(1918-1920)gTt>gCt p.V640A LAS1L_uc004dwc.2_Missense_Mutation_p.V623A|LAS1L_uc004dwd.2_Missense_Mutation_p.V581A|LAS1L_uc004dvz.2_Missense_Mutation_p.V153A|LAS1L_uc004dvy.1_Missense_Mutation_p.V153A NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA. 640 MLL1 complex|nucleolus protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 33 ACCTGAGCTAACCTGCCATGC 0.532000 56 7 0 0 1 0 0 ISX 91464 broad.mit.edu 37 22 35481510 35481510 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr22:35481510G>A uc003anj.3 + 3 1513 c.562G>A c.(562-564)Gct>Act p.A188T NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN Homo sapiens intestine-specific homeobox (ISX), mRNA. 188 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S187S(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 TTGTCCATCGGCTCAAGATCA 0.617000 208 18 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47667058 47667058 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:47667058G>A uc003gxm.3 - 10 1673 c.1580C>T c.(1579-1581)cCt>cTt p.P527L CORIN_uc011bzf.2_Missense_Mutation_p.P388L|CORIN_uc011bzg.2_Missense_Mutation_p.P460L|CORIN_uc011bzh.1_Missense_Mutation_p.P490L|CORIN_uc011bzi.1_Missense_Mutation_p.P490L NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN Homo sapiens corin, serine peptidase (CORIN), mRNA. 527 FZ 2. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 CCTGCAAGGAGGGATATGCTC 0.418000 49 7 0 0 1 0 0 SFTPD 6441 broad.mit.edu 37 10 81702188 81702188 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr10:81702188C>T uc001kbh.3 - 3 432 c.389G>A c.(388-390)gGa>gAa p.G130E NM_003019 NP_003010 P35247 SFTPD_HUMAN Homo sapiens surfactant protein D (SFTPD), mRNA. 130 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) GCCCTGAGGTCCTATGTTCCC 0.612000 63 11 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940632 22940632 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:22940632C>T uc021urt.1 - 3 2234 c.2079G>A c.(2077-2079)agG>agA p.R693R NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCTTATGTTTCCTAAGGGCTG 0.373000 57 6 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41450730 41450730 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr21:41450730G>A uc002yyq.1 - 25 5047 c.4595C>T c.(4594-4596)tCc>tTc p.S1532F DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1532 Fibronectin type-III 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CAGGATGTAGGACTTGGAGAG 0.582000 43 4 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7981382 7981382 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr11:7981382C>T uc001mfv.1 - 1 1794 c.1777G>A c.(1777-1779)Gaa>Aaa p.E593K NM_176821 NP_789791 Q86W26 NAL10_HUMAN Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA. 593 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GATTTCTTTTCATTTGAATGT 0.368000 46 4 0 0 1 0 0 METTL19 152992 broad.mit.edu 37 4 8469765 8469765 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:8469765C>T uc003glg.2 + 8 1637 c.1619C>T c.(1618-1620)tCc>tTc p.S540F METTL19_uc003glf.1_Missense_Mutation_p.S299F|METTL19_uc003glh.1_Missense_Mutation_p.S148F NM_152544 NP_689757 Q8IYL2 TRM44_HUMAN Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA. 540 tRNA processing cytoplasm methyltransferase activity|nucleic acid binding|zinc ion binding kidney(1)|lung(6)|ovary(3)|prostate(1) 11 TGGGAGCTTTCCCCTTCTCCA 0.607000 69 7 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21878027 21878027 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr14:21878027G>A uc001war.2 - 9 2412 c.2347C>T c.(2347-2349)Cca>Tca p.P783S CHD8_uc001was.2_Missense_Mutation_p.P504S|CHD8_uc001wav.1_5'UTR NM_001170629 NP_001164100 Q9HCK8 CHD8_HUMAN Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA. 783 Chromo 2. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TTGAGTTCTGGGTGCCTTGAC 0.373000 76 6 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248343781 248343781 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:248343781C>T uc010pzf.2 + 0 494 c.494C>T c.(493-495)tCc>tTc p.S165F NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA. 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 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;0.0245) GCCACATTTTCCTTCTCCTTT 0.423000 372 40 0 0 1 0 0 CRK 1398 broad.mit.edu 37 17 1340138 1340138 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:1340138G>A uc002fsl.3 - 1 703 c.553C>T c.(553-555)Cct>Tct p.P185S CRK_uc002fsm.3_Missense_Mutation_p.P185S NM_016823 NP_058431 P46108 CRK_HUMAN Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian) (CRK), transcript variant II, mRNA. 185 SH3 1. actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter cytosol|endosome|nucleus|plasma membrane SH2 domain binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2) 9 UCEC - Uterine corpus endometrioid carcinoma (25;0.083) TCGACGTAAGGGACTGGAATC 0.567000 183 19 0 0 1 0 0 ALOX15 246 broad.mit.edu 37 17 4536722 4536722 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:4536722C>T uc002fyh.3 - 8 1260 c.1235G>A c.(1234-1236)gGa>gAa p.G412E ALOX15_uc010vsd.2_Missense_Mutation_p.G373E|ALOX15_uc010vse.2_Missense_Mutation_p.G434E NM_001140 NP_001131 P16050 LOX15_HUMAN Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA. 412 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity p.G412E(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) GTCGAAAATTCCCATGTCAGA 0.537000 179 13 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380904 147380904 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:147380904C>T uc021ovm.1 + 0 822 c.822C>T c.(820-822)atC>atT p.I274I GJA8_uc001epu.2_Silent_p.I274I NM_005267 NP_005258 P48165 CXA8_HUMAN Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA. 274 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) AAGAGAAAATCGTTTCCCACT 0.537000 92 10 0 0 1 0 0 C1QTNF5 114902 broad.mit.edu 37 11 119217021 119217021 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr11:119217021G>A uc010rzg.1 - 1 278 c.118C>T c.(118-120)Cca>Tca p.P40S C1QTNF5_uc001pwj.2_5'UTR Q9BY79 MFRP_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA. 40 P -> Q (in Ref. 2; CAH93521). embryo development integral to membrane endometrium(1)|lung(2) 3 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) GCATCCTCTGGGAAAACTGGG 0.632000 32 6 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196825573 196825573 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:196825573G>A uc002utj.4 - 17 2403 c.2302C>T c.(2302-2304)Cgt>Tgt p.R768C NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 768 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCATAAAGACGAAGATAAGGG 0.403000 118 9 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303222 151303222 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:151303222G>A uc022cgz.1 - 0 871 c.871C>T c.(871-873)Cct>Tct p.P291S MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.P291S|MAGEA10_uc004ffm.2_Missense_Mutation_p.P291S|MAGEA10_uc004ffl.3_Missense_Mutation_p.P291S NM_021048 NP_066386 P43363 MAGAA_HUMAN Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA. 291 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TACCGTGCAGGATCACTGCCA 0.522000 251 24 0 0 1 0 0 HTATSF1 27336 broad.mit.edu 37 X 135593294 135593294 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:135593294G>A uc004ezw.3 + 9 1812 c.1390G>A c.(1390-1392)Gaa>Aaa p.E464K HTATSF1_uc004ezx.3_Missense_Mutation_p.E464K NM_001163280 NP_055315 O43719 HTSF1_HUMAN Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA. 464 Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus RNA binding|nucleotide binding|protein binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) AGGCTGCCCTGAAAAAGAATC 0.468000 129 7 0 0 1 0 0 STK39 27347 broad.mit.edu 37 2 169020356 169020356 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:169020356G>A uc002uea.3 - 3 625 c.465C>T c.(463-465)aaC>aaT p.N155N NM_013233 NP_037365 Q9UEW8 STK39_HUMAN Homo sapiens serine threonine kinase 39 (STK39), mRNA. 155 Protein kinase. response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 13 GTTCTCCTCGGTTGACAATGT 0.368000 40 5 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51096349 51096349 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:51096349G>A uc003tps.3 - 10 2800 c.2615C>T c.(2614-2616)tCg>tTg p.S872L COBL_uc003tpr.4_Missense_Mutation_p.S815L|COBL_uc011kcl.2_Missense_Mutation_p.S815L|COBL_uc003tpp.4_Missense_Mutation_p.S601L|COBL_uc003tpq.4_Missense_Mutation_p.S756L|COBL_uc003tpo.4_Missense_Mutation_p.S357L NM_015198 NP_056013 O75128 COBL_HUMAN Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA. 815 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CTGCTGGGGCGATATTGGCTT 0.657000 92 5 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127637148 127637148 + Missense_Mutation SNP A T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:127637148A>T uc003kuu.3 - 46 6411 c.5972T>A c.(5971-5973)tTt>tAt p.F1991Y NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 1991 EGF-like 33; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AATTTCATTAAAACAACGTCC 0.358000 68 7 0 0 1 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43531100 43531100 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:43531100G>A uc002ija.3 - 6 2288 c.2118C>T c.(2116-2118)tcC>tcT p.S706S PLEKHM1_uc010wjm.2_Silent_p.S678S|PLEKHM1_uc002ijb.3_Silent_p.S181S|PLEKHM1_uc010wjn.1_Silent_p.S655S|PLEKHM1_uc002ijc.3_Silent_p.S160S NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA. 706 PH 2. intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) GAGCCTCCAAGGACAGAGAAA 0.547000 88 6 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76728558 76728558 + Silent SNP G A A rs142510377 by1000genomes TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr6:76728558G>A uc003pik.1 - 6 814 c.684C>T c.(682-684)ttC>ttT p.F228F NM_001563 NP_001554 Q17R60 IMPG1_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA. 228 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CCAACACAGCGAATTCTGTTT 0.413000 82 9 0 0 1 0 0 CLK2 1196 broad.mit.edu 37 1 155233803 155233803 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:155233803G>A uc001fjy.3 - 11 1545 c.1255C>T c.(1255-1257)Ctg>Ttg p.L419L SCAMP3_uc001fjs.3_5'Flank|SCAMP3_uc001fjt.3_5'Flank|CLK2_uc001fjw.3_Silent_p.L418L|CLK2_uc001fjx.3_Silent_p.L191L|CLK2_uc009wqm.3_Silent_p.L419L NM_003993 NP_003984 P49760 CLK2_HUMAN Homo sapiens CDC-like kinase 2 (CLK2), mRNA. 419 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R418C(1) endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCCCAATCCAGGCGACCCCGG 0.517000 Other conserved DNA damage response genes 183 18 0 0 1 0 0 SLC27A2 11001 broad.mit.edu 37 15 50526115 50526115 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr15:50526115G>A uc001zxw.3 + 8 1838 c.1606G>A c.(1606-1608)Gaa>Aaa p.E536K SLC27A2_uc010bes.3_Missense_Mutation_p.E483K|SLC27A2_uc001zxx.3_Missense_Mutation_p.E301K NM_003645 NP_003636 O14975 S27A2_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA. 536 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity p.E536A(1) NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) AGAAAACCATGAATTTGATGG 0.378000 53 6 0 0 1 0 0 EEPD1 80820 broad.mit.edu 37 7 36327301 36327301 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:36327301C>T uc003tfa.3 + 5 1870 c.1230C>T c.(1228-1230)ctC>ctT p.L410L NM_030636 NP_085139 Q7L9B9 EEPD1_HUMAN Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA. 410 DNA repair DNA binding endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18 CCCTGACCCTCCTGGGGAGCG 0.547000 155 14 0 0 1 0 0 PPP1R10 5514 broad.mit.edu 37 6 30571352 30571352 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr6:30571352G>A uc003nqn.1 - 15 2216 c.1664C>T c.(1663-1665)cCt>cTt p.P555L PPP1R10_uc010jsc.1_Missense_Mutation_p.P209L NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA. 555 Gly-rich.|Interaction with WDR82 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 CAGAACTGGAGGCAACTTGGA 0.562000 262 21 0 0 1 0 0 KRT73 319101 broad.mit.edu 37 12 53009975 53009975 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:53009975C>T uc001sas.3 - 1 672 c.637G>A c.(637-639)Gaa>Aaa p.E213K NM_175068 NP_778238 Q86Y46 K2C73_HUMAN Homo sapiens keratin 73 (KRT73), mRNA. 213 Coil 1B.|Rod. keratin filament structural molecule activity p.E213*(2)|p.R212H(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TCCACCACTTCGCGCACGCTC 0.627000 170 23 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5463759 5463759 + Nonsense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:5463759C>T uc003jdm.4 + 12 4534 c.4312C>T c.(4312-4314)Cag>Tag p.Q1438* NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN Homo sapiens KIAA0947 (KIAA0947), mRNA. 1438 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 ACATGTGGACCAGGTCACACT 0.463000 116 8 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32035624 32035624 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr6:32035624C>T uc003nzl.2 - 17 6560 c.6358G>A c.(6358-6360)Ggc>Agc p.G2120S NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 2192 Fibronectin type-III 13. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.G2207C(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCGAAGCGGCCCTGGGGGACG 0.687000 115 6 0 0 1 0 0 CCDC93 54520 broad.mit.edu 37 2 118758452 118758452 + Missense_Mutation SNP A T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:118758452A>T uc002tlj.3 - 3 476 c.308T>A c.(307-309)cTg>cAg p.L103Q CCDC93_uc010fld.2_Missense_Mutation_p.L159Q NM_019044 NP_061917 Q567U6 CCD93_HUMAN Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA. 103 breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 GTGGGGCTCCAGCTGGTGTGG 0.448000 82 9 0 0 1 0 0 IRGC 56269 broad.mit.edu 37 19 44223009 44223009 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:44223009C>T uc002oxh.3 + 1 446 c.299C>T c.(298-300)cCa>cTa p.P100L IRGC_uc021uvh.1_Missense_Mutation_p.P100L NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA. 100 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) TCGCCCTATCCACACCCACAG 0.647000 63 8 0 0 1 0 0 HEMGN 55363 broad.mit.edu 37 9 100692686 100692686 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr9:100692686C>T uc004axy.3 - 2 1099 c.991G>A c.(991-993)Gaa>Aaa p.E331K HEMGN_uc004axz.3_Missense_Mutation_p.E331K NM_197978 NP_932095 Q9BXL5 HEMGN_HUMAN Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA. 331 cell differentiation|multicellular organismal development NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(62;0.0559) ACAATAATTTCGTTACATGTT 0.358000 170 20 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26775249 26775249 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:26775249G>A uc001rhg.3 - 24 3629 c.3212C>T c.(3211-3213)cCt>cTt p.P1071L NM_002223 NP_002214 Q14571 ITPR2_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA. 1071 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) AGACAGCAAAGGCGGGTAGTC 0.463000 64 5 0 0 1 0 0 ZNF235 9310 broad.mit.edu 37 19 44793170 44793170 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:44793170G>A uc002oza.4 - 4 521 c.418C>T c.(418-420)Ccc>Tcc p.P140S ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.P136S NM_004234 NP_004225 Q14590 ZN235_HUMAN Homo sapiens zinc finger protein 235 (ZNF235), mRNA. 140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) ACTTGACAGGGGGAATCATGG 0.428000 146 11 0 0 1 0 0 CABLES2 81928 broad.mit.edu 37 20 60966461 60966461 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:60966461G>A uc002ycv.2 - 8 1147 c.1140C>T c.(1138-1140)ccC>ccT p.P380P NM_031215 NP_112492 Q9BTV7 CABL2_HUMAN Homo sapiens Cdk5 and Abl enzyme substrate 2 (CABLES2), mRNA. 380 cell cycle|cell division|regulation of cell cycle|regulation of cell division cyclin-dependent protein kinase regulator activity endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1) 11 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) CCACCGTCACGGGCTCCAGGC 0.632000 294 20 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092842 30092842 + RNA SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr18:30092842G>A uc010dmc.3 + 0 c.1217G>A Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA. GGAAGTAGAGGAATTTTCAGA 0.423000 64 5 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24466778 24466778 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr22:24466778C>T uc002zzi.1 + 16 2387 c.2260C>T c.(2260-2262)Cgg>Tgg p.R754W CABIN1_uc021wnc.1_Missense_Mutation_p.R704W|CABIN1_uc002zzj.1_Missense_Mutation_p.R704W|CABIN1_uc002zzl.2_Missense_Mutation_p.R754W NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA. 754 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GAAGGACTATCGGCAGTGTTT 0.582000 152 13 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100684190 100684190 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:100684190C>T uc003uxp.1 + 2 9546 c.9493C>T c.(9493-9495)Cca>Tca p.P3165S MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3165 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGGAAGTACTCCATTAACATA 0.493000 828 79 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1516525 1516525 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:1516525G>A uc003skn.2 - 35 5069 c.4968C>T c.(4966-4968)ttC>ttT p.F1656F NM_001080453 NP_001073922 Q8N201 INT1_HUMAN Homo sapiens integrator complex subunit 1 (INTS1), mRNA. 1656 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GGTAGGGACGGAACGAGGGCA 0.642000 21 5 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15794500 15794500 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:15794500G>A uc002nbl.3 + 6 964 c.845G>A c.(844-846)gGt>gAt p.G282D NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CCCACTCAGGGTATTGATGAT 0.527000 193 14 0 0 1 0 0 PYGL 5836 broad.mit.edu 37 14 51390787 51390787 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr14:51390787C>T uc001wyu.3 - 4 687 c.560G>A c.(559-561)gGa>gAa p.G187E PYGL_uc010tqq.2_Missense_Mutation_p.G153E|PYGL_uc010anz.1_5'UTR|PYGL_uc001wyw.4_Missense_Mutation_p.G187E NM_002863 NP_002854 P06737 PYGL_HUMAN Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA. 187 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) CCAAGGGTTTCCATATCTGAG 0.423000 107 7 0 0 1 0 0 ARMC5 79798 broad.mit.edu 37 16 31471225 31471225 + Missense_Mutation SNP A G G TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr16:31471225A>G uc010vfn.2 + 2 789 c.665A>G c.(664-666)aAg>aGg p.K222R ARMC5_uc010vfo.2_Missense_Mutation_p.K159R|ARMC5_uc002ecc.3_Missense_Mutation_p.K127R|ARMC5_uc002eca.4_Missense_Mutation_p.K127R|ARMC5_uc002ecb.2_Missense_Mutation_p.K127R|ARMC5_uc010vfp.2_Missense_Mutation_p.K127R NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA. 127 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CGCCTGCGCAAGACGCTGGAC 0.687000 65 4 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48612255 48612255 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:48612255C>T uc003ctz.2 - 75 6324 c.6323G>A c.(6322-6324)gGa>gAa p.G2108E NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 2108 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TCCAGGGGGTCCCTGTTCTCC 0.572000 62 4 0 0 1 0 0 PGK1 5230 broad.mit.edu 37 X 77380915 77380915 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:77380915C>T uc004ecz.4 + 9 1378 c.1206C>T c.(1204-1206)ctC>ctT p.L402L PGK1_uc011mqq.2_Silent_p.L374L NM_000291 NP_000282 P00558 PGK1_HUMAN Homo sapiens phosphoglycerate kinase 1 (PGK1), mRNA. 402 gluconeogenesis|glycolysis cytosol ATP binding|phosphoglycerate kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 24 GTTTGGAGCTCCTGGAAGGTG 0.512000 68 7 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74285330 74285330 + Missense_Mutation SNP G A A rs76587671 TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:74285330G>A uc003hgs.4 + 12 1832 c.1759G>A c.(1759-1761)Gat>Aat p.D587N ALB_uc011cbe.2_Missense_Mutation_p.D266N|ALB_uc003hgw.4_Missense_Mutation_p.D395N|ALB_uc011cbf.2_Missense_Mutation_p.D477N NM_000477 NP_000468 P02768 ALBU_HUMAN Homo sapiens albumin (ALB), mRNA. 587 Albumin 3. D -> N (in Fukuoka-1/Paris-2). bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding p.D586E(1) NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) CAAGGCTGACGATAAGGAGAC 0.438000 124 6 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20986599 20986599 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr16:20986599C>T uc010vbe.2 - 50 8215 c.8215G>A c.(8215-8217)Gaa>Aaa p.E2739K DNAH3_uc010vbd.2_Missense_Mutation_p.E174K NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2739 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GCTTCTTTTTCATCTGCCTGC 0.483000 288 15 0 0 1 0 0 FANCB 2187 broad.mit.edu 37 X 14882838 14882838 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:14882838C>T uc004cwg.1 - 2 1063 c.795G>A c.(793-795)ctG>ctA p.L265L FANCB_uc004cwh.1_Silent_p.L265L NM_001018113 NP_689846 Q8NB91 FANCB_HUMAN Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA. 265 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) GAAATGAAATCAGCTGATTCT 0.393000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 87 7 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155508050 155508050 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:155508050G>A uc003iod.1 - 4 589 c.531C>T c.(529-531)atC>atT p.I177I FGA_uc003ioe.1_Silent_p.I177I|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. 177 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GACAAGATCGGATCTTAATAT 0.398000 72 8 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11501681 11501681 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:11501681C>T uc021zzo.1 - 9 2710 c.2458G>A c.(2458-2460)Gaa>Aaa p.E820K THSD7A_uc021zzn.1_Missense_Mutation_p.E820K NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA. 820 TSP type-1 8. integral to membrane p.E820K(4)|p.Y819C(1) NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GCCTTCTCTTCATAGAGGGGA 0.542000 HNSCC(18;0.044) 296 17 0 0 1 0 0 MATK 4145 broad.mit.edu 37 19 3783205 3783205 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:3783205C>T uc002lyt.3 - 6 995 c.595G>A c.(595-597)Gac>Aac p.D199N MATK_uc002lyv.3_Missense_Mutation_p.D200N|MATK_uc002lyu.3_Missense_Mutation_p.D158N|MATK_uc010dtq.3_Missense_Mutation_p.D199N NM_139355 NP_647611 P42679 MATK_HUMAN Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA. 199 SH2. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GCGCCCTTGTCCTTGCTGTAA 0.657000 70 11 0 0 1 0 0 KRT6B 3854 broad.mit.edu 37 12 52841142 52841142 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:52841142C>T uc001sak.3 - 8 1575 c.1527G>A c.(1525-1527)ctG>ctA p.L509L NM_005555 NP_005546 P04259 K2C6B_HUMAN Homo sapiens keratin 6B (KRT6B), mRNA. 509 Tail. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) TTCCTCCACCCAGGCCTAAGC 0.627000 87 8 0 0 1 0 0 C1orf192 257177 broad.mit.edu 37 1 161334778 161334778 + Missense_Mutation SNP G C C TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:161334778G>C uc001gal.3 - 4 517 c.511C>G c.(511-513)Ccc>Gcc p.P171A NM_001013625 NP_001013647 Q5VTH2 CA192_HUMAN Homo sapiens chromosome 1 open reading frame 192 (C1orf192), mRNA. 171 endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 10 all_cancers(52;4.64e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GGTCTTTGGGGACCTGGAGTA 0.527000 126 15 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3683103 3683104 + Missense_Mutation DNP CC TT TT TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:3683103_3683104CC>TT uc001akv.2 + 8 1538_1539 c.1457_1458CC>TT c.(1456-1458)tcc>tTT p.S486F NM_152492 NP_689705 Q2M243 CCD27_HUMAN Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA. 486 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) TTCCAGTTCTCCAACCTCCGAG 0.495000 58 4 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56313060 56313060 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:56313060C>T uc010ygf.2 - 6 2760 c.2049G>A c.(2047-2049)aaG>aaA p.K683K NLRP11_uc002qlz.3_Silent_p.K530K|NLRP11_uc002qmb.3_Silent_p.K584K|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 683 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GAGCCAAAGCCTTGAGTAAGT 0.453000 87 9 0 0 1 0 0 EBF1 1879 broad.mit.edu 37 5 158250217 158250217 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:158250217G>A uc010jip.3 - 7 1047 c.745C>T c.(745-747)Ccc>Tcc p.P249S EBF1_uc011ddw.2_Missense_Mutation_p.P116S|EBF1_uc011ddx.2_Missense_Mutation_p.P249S|EBF1_uc003lxl.4_Missense_Mutation_p.P226S NM_024007 NP_076870 Q9UH73 COE1_HUMAN Homo sapiens early B-cell factor 1 (EBF1), mRNA. 249 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCTTCCGAGGGGTCAAGCCTC 0.463000 T HMGA2 lipoma 65 9 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21467126 21467126 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:21467126C>T uc003cce.3 - 5 1118 c.710G>A c.(709-711)gGa>gAa p.G237E NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN Homo sapiens zinc finger protein 385D (ZNF385D), mRNA. 237 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 AGTGCCACTTCCATTCCGGGC 0.448000 70 8 0 0 1 0 0 MPL 4352 broad.mit.edu 37 1 43806136 43806136 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:43806136C>T uc001ciw.3 + 5 977 c.932C>T c.(931-933)tCc>tTc p.S311F MPL_uc001civ.3_Missense_Mutation_p.S311F|MPL_uc009vwr.3_Missense_Mutation_p.S304F NM_005373 NP_005364 P40238 TPOR_HUMAN Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA. 311 cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CATGCTAGCTCCCAAGGCTTC 0.517000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 269 35 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152327549 152327549 + Missense_Mutation SNP C T T rs148753254 TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:152327549C>T uc001ezw.4 - 2 2786 c.2713G>A c.(2713-2715)Gga>Aga p.G905R AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 905 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGTATTGTCCTGAGCCAGTC 0.488000 384 38 0 0 1 0 0 USP51 158880 broad.mit.edu 37 X 55513971 55513971 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:55513971C>T uc022bxu.1 - 0 1402 c.1402G>A c.(1402-1404)Gat>Aat p.D468N USP51_uc004dun.2_Missense_Mutation_p.D468N NM_201286 NP_958443 Q70EK9 UBP51_HUMAN Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA. 468 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding p.D467Y(1) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 CCACCACTATCATCTTTGCTG 0.468000 169 13 0 0 1 0 0 EHMT1 79813 broad.mit.edu 37 9 140693307 140693307 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr9:140693307G>A uc011mfc.2 + 16 2585 c.2548G>A c.(2548-2550)Ggc>Agc p.G850S NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA. 850 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) TGCCAAGAAAGGCCACTACGA 0.532000 157 22 0 0 1 0 0 PAGE1 8712 broad.mit.edu 37 X 49455912 49455912 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:49455912C>T uc004dom.3 - 3 365 c.232G>A c.(232-234)Ggt>Agt p.G78S NM_003785 NP_003776 O75459 GAGB1_HUMAN Homo sapiens P antigen family, member 1 (prostate associated) (PAGE1), mRNA. 78 cellular defense response endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 7 Ovarian(276;0.236) GTATCAGGACCATCTCCAAGC 0.468000 95 7 0 0 1 0 0 FCHO1 23149 broad.mit.edu 37 19 17892536 17892536 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:17892536C>T uc002nhg.3 + 22 2123 c.1844C>T c.(1843-1845)cCg>cTg p.P615L FCHO1_uc010ebb.2_Missense_Mutation_p.P615L|FCHO1_uc002nhh.2_Missense_Mutation_p.P615L|FCHO1_uc010xpw.1_Missense_Mutation_p.P565L NM_001161357 NP_001154829 O14526 FCHO1_HUMAN Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA. 615 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 TCCCGGGGTCCGAGCCCTGTG 0.627000 190 15 0 0 1 0 0 RPS21 6227 broad.mit.edu 37 20 60962424 60962424 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:60962424C>T uc002yct.3 + 1 120 c.30C>T c.(28-30)gaC>gaT p.D10D RPS21_uc002ycr.3_Silent_p.D10D|RPS21_uc002ycs.3_Silent_p.D10D P63220 RS21_HUMAN Homo sapiens ribosomal protein S21 (RPS21), mRNA. 10 endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein N-terminus binding|structural constituent of ribosome endometrium(2)|lung(1)|prostate(1) 4 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) AGTTCGTGGACCTGTACGTGC 0.682000 14 3 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219297672 219297672 + Nonsense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:219297672C>T uc002vib.3 + 11 1520 c.1498C>T c.(1498-1500)Cag>Tag p.Q500* VIL1_uc010zke.2_Nonsense_Mutation_p.Q189*|VIL1_uc002via.3_Nonsense_Mutation_p.Q500* NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 500 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTGGTCTACCAGGTGTGGCT 0.572000 71 10 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 78 9 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1520694 1520694 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:1520694C>T uc002qwr.3 + 14 2644 c.2558C>T c.(2557-2559)tCg>tTg p.S853L TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.S853L|TPO_uc002qwx.3_Missense_Mutation_p.S796L|TPO_uc002qwu.3_Missense_Mutation_p.S796L|TPO_uc010yio.2_Missense_Mutation_p.S680L|TPO_uc010yip.2_Missense_Mutation_p.S809L|TPO_uc002qwy.1_Missense_Mutation_p.S149L|TPO_uc002qwz.3_Non-coding_Transcript NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 853 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) ATCTCCATGTCGCTGGCTGCT 0.562000 69 7 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110782771 110782771 + Nonsense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:110782771C>T uc001tqk.4 + 16 3165 c.2602C>T c.(2602-2604)Cag>Tag p.Q868* ATP2A2_uc001tql.4_Nonsense_Mutation_p.Q868*|ATP2A2_uc021rdt.1_Nonsense_Mutation_p.Q716*|ATP2A2_uc001tqn.4_5'Flank|ATP2A2_uc009zvn.3_5'Flank NM_170665 NP_733765 P16615 AT2A2_HUMAN Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA. 868 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 GTCCTTCTACCAGCTGGTACT 0.493000 91 11 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10480138 10480138 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr8:10480138G>A uc003wtc.3 - 1 803 c.574C>T c.(574-576)Cct>Tct p.P192S NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 192 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TGCTTCACAGGAAAGCGCAGG 0.522000 233 21 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 48993541 48993541 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:48993541C>T uc003gyv.3 + 2 488 c.306C>T c.(304-306)tcC>tcT p.S102S CWH43_uc011bzl.2_Silent_p.S75S NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 102 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GGGTGTCTTCCTCACTGATAG 0.438000 261 25 0 0 1 0 0 DEFB125 245938 broad.mit.edu 37 20 76798 76798 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:76798C>T uc002wcw.3 + 1 211 c.211C>T c.(211-213)Cct>Tct p.P71S NM_153325 NP_697020 Q8N687 DB125_HUMAN Homo sapiens defensin, beta 125 (DEFB125), mRNA. 71 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.156) ACCAGCATTTCCTGTGATTCA 0.363000 194 11 0 0 1 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22259514 22259514 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:22259514C>T uc003svg.3 - 8 821 c.508G>A c.(508-510)Gac>Aac p.D170N NM_012294 NP_036426 Q92565 RPGF5_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA. 0 N-terminal Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 TCTTTTTTGTCCGTCTGCAAA 0.443000 63 11 0 0 1 0 0 FGD1 2245 broad.mit.edu 37 X 54496781 54496781 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:54496781G>A uc004dtg.3 - 3 1503 c.769C>T c.(769-771)Ccc>Tcc p.P257S FGD1_uc011moi.1_Missense_Mutation_p.P15S NM_004463 NP_004454 P98174 FGD1_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA. 257 Pro-rich. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TCACCCTCGGGGAGCTGGGGC 0.667000 31 5 0 0 1 0 0 GALR2 8811 broad.mit.edu 37 17 74073304 74073304 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:74073304C>T uc002jqm.1 + 1 1029 c.956C>T c.(955-957)tCg>tTg p.S319L ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank NM_003857 NP_003848 O43603 GALR2_HUMAN Homo sapiens galanin receptor 2 (GALR2), mRNA. 319 digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 GGCCGAGCCTCGGGCCGTGTG 0.701000 13 3 0 0 1 0 0 EFHB 151651 broad.mit.edu 37 3 19947234 19947234 + Silent SNP T C C TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:19947234T>C uc003cbl.4 - 5 1492 c.1296A>G c.(1294-1296)gcA>gcG p.A432A EFHB_uc003cbm.3_Silent_p.A302A NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN Homo sapiens EF-hand domain family, member B (EFHB), mRNA. 432 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 TTCGGTTCTTTGCCTCTCCTG 0.388000 56 10 0 0 1 0 0 TRA2B 6434 broad.mit.edu 37 3 185643322 185643322 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:185643322C>T uc003fpv.3 - 2 539 c.263G>A c.(262-264)cGa>cAa p.R88Q TRA2B_uc003fpt.3_5'Flank|TRA2B_uc003fpu.3_Non-coding_Transcript|TRA2B_uc010hym.3_5'UTR NM_004593 NP_001230808 P62995 TRA2B_HUMAN Homo sapiens transformer 2 beta homolog (Drosophila) (TRA2B), transcript variant 1, mRNA. 88 Arg/Ser-rich (RS1 domain). nuclear mRNA splicing, via spliceosome nucleus RNA binding|nucleotide binding|protein binding breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 18 ACGATAATCTCGACTGTAAGA 0.522000 111 5 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121739511 121739511 + Silent SNP G A A rs149915358 byFrequency TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:121739511G>A uc003ksw.1 + 2 287 c.81G>A c.(79-81)acG>acA p.T27T SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Silent_p.T27T|SNCAIP_uc003ksy.1_Missense_Mutation_p.R12Q|SNCAIP_uc003ksx.1_Silent_p.T74T|SNCAIP_uc003ksz.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcu.2_Missense_Mutation_p.R12Q|SNCAIP_uc011cwm.1_Missense_Mutation_p.R12Q|SNCAIP_uc003kta.1_Missense_Mutation_p.R10Q|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcx.1_Silent_p.T27T NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 27 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CACTCAAGACGATCCCAGAAC 0.453000 151 15 0 0 1 0 0 LRP12 29967 broad.mit.edu 37 8 105503461 105503461 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr8:105503461G>A uc003yma.3 - 6 2147 c.2020C>T c.(2020-2022)Cct>Tct p.P674S LRP12_uc003ymb.3_Missense_Mutation_p.P655S|LRP12_uc003ylz.3_Missense_Mutation_p.P80S NM_013437 NP_038465 Q9Y561 LRP12_HUMAN Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA. 674 endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TGAGGCAAAGGAGCTGCAACC 0.478000 68 5 0 0 1 0 0 C7orf62 219557 broad.mit.edu 37 7 88423665 88423665 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:88423665C>T uc003ujv.3 - 1 774 c.592G>A c.(592-594)Gat>Aat p.D198N ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Missense_Mutation_p.D198N NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA. 198 p.D198N(4) NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 30 TGTAAGTTATCGCCTGGTCCT 0.423000 134 10 0 0 1 0 0 ACTN1 87 broad.mit.edu 37 14 69378955 69378955 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr14:69378955G>A uc001xkl.3 - 3 655 c.345C>T c.(343-345)atC>atT p.I115I ACTN1_uc010ttb.2_Silent_p.I50I|ACTN1_uc001xkm.3_Silent_p.I115I|ACTN1_uc001xkn.3_Silent_p.I115I|ACTN1_uc001xko.1_Silent_p.I50I|ACTN1_uc010ttd.1_Silent_p.I94I NM_001102 NP_001093 P12814 ACTN1_HUMAN Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA. 115 Actin-binding.|CH 1. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) TCCCATCCACGATTTCTACAG 0.542000 OREG0022758 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 142 7 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140262783 140262783 + Silent SNP C T T rs145698462 TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:140262783C>T uc003lif.2 + 0 930 c.930C>T c.(928-930)ttC>ttT p.F310F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.F310F|PCDHAC2_uc003lid.3_Silent_p.F310F NM_018904 NP_061727 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA. 325 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACTAGATTTCGAAGAAAAGA 0.378000 96 12 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262159 45262159 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:45262159G>A uc003jok.3 - 7 2562 c.2537C>T c.(2536-2538)tCg>tTg p.S846L NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 846 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GGCTCCCGACGACATCTGTCG 0.647000 124 9 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56424525 56424525 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:56424525C>T uc010ygg.2 - 4 683 c.658G>A c.(658-660)Gat>Aat p.D220N NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 220 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CTATTAGGATCCAGTAGGCGC 0.527000 197 26 0 0 1 0 0 MAMLD1 10046 broad.mit.edu 37 X 149638712 149638712 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:149638712C>T uc011mxu.2 + 2 1102 c.792C>T c.(790-792)ctC>ctT p.L264L MAMLD1_uc011mxt.1_Silent_p.L251L|MAMLD1_uc004fee.2_Silent_p.L289L|MAMLD1_uc011mxv.2_Silent_p.L264L|MAMLD1_uc011mxw.2_Silent_p.L216L NM_001177465 NP_001170936 Q13495 MAMD1_HUMAN Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA. 289 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) AGGCCATGCTCCCTGTCGCTC 0.582000 157 9 0 0 1 0 0 SLC17A8 246213 broad.mit.edu 37 12 100774588 100774588 + Missense_Mutation SNP G T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:100774588G>T uc010svi.2 + 1 524 c.211G>T c.(211-213)Ggc>Tgc p.G71C SLC17A8_uc009ztx.3_Missense_Mutation_p.G71C NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA. 71 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 CCACTGCTGCGGCCTCCCCAA 0.537000 203 15 2.32078e-09 2.35027e-09 1 1 0 PRRC2B 84726 broad.mit.edu 37 9 134350764 134350764 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr9:134350764G>A uc004can.4 + 14 3303 c.3248G>A c.(3247-3249)gGa>gAa p.G1083E PRRC2B_uc010mzj.1_Missense_Mutation_p.G666E|PRRC2B_uc004cao.4_Missense_Mutation_p.G441E NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA. 1083 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CCTGCTGGCGGAAATGGGAGC 0.657000 28 5 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100696311 100696311 + Missense_Mutation SNP A G G TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:100696311A>G uc003uxp.1 + 9 13201 c.13148A>G c.(13147-13149)aAc>aGc p.N4383S MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 4383 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAGACCTGTAACCAGGGCACC 0.597000 108 7 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32466592 32466592 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:32466592C>T uc004dda.1 - 26 4011 c.3767G>A c.(3766-3768)gGg>gAg p.G1256E DMD_uc004dcz.2_Missense_Mutation_p.G1133E|DMD_uc004dcy.1_Missense_Mutation_p.G1252E|DMD_uc004ddb.1_Missense_Mutation_p.G1248E|DMD_uc010ngo.1_Intron NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 1256 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTTGCATTTCCCATTCAGCCT 0.423000 124 21 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153030017 153030017 + Silent SNP G A A rs141629018 TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:153030017G>A uc011dcy.2 + 3 645 c.618G>A c.(616-618)aaG>aaA p.K206K GRIA1_uc003lva.4_Silent_p.K196K|GRIA1_uc003luy.4_Silent_p.K196K|GRIA1_uc003luz.4_Silent_p.K101K|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.K116K|GRIA1_uc011dcx.2_Silent_p.K127K|GRIA1_uc011dcz.2_Silent_p.K206K|GRIA1_uc010jia.1_Silent_p.K176K NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 196 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGAAGAAAAAGGAGCGGCTGG 0.537000 133 14 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57566960 57566960 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:57566960C>T uc001snd.3 + 20 3639 c.3173C>T c.(3172-3174)cCc>cTc p.P1058L NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 1058 aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity p.P1058T(3)|p.R1057R(1) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCCACGAGGCCCCCTGGTGGC 0.672000 OREG0021936 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 66 4 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140237669 140237669 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:140237669C>T uc003lhx.2 + 0 2036 c.2036C>T c.(2035-2037)tCg>tTg p.S679L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Missense_Mutation_p.S679L NM_018901 NP_061724 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA. 689 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGGCCTCGTCGCGGGCTTCA 0.662000 90 11 0 0 1 0 0 FMOD 2331 broad.mit.edu 37 1 203317042 203317042 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:203317042G>A uc001gzr.3 - 1 493 c.357C>T c.(355-357)tcC>tcT p.S119S NM_002023 NP_002014 Q06828 FMOD_HUMAN Homo sapiens fibromodulin (FMOD), mRNA. 119 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) CTTCCTGGATGGAGGTGATCT 0.542000 54 5 0 0 1 0 0 MALL 7851 broad.mit.edu 37 2 110849283 110849283 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:110849283C>T uc002tfk.3 - 1 944 c.170G>A c.(169-171)gGa>gAa p.G57E MALL_uc010fju.3_Intron NM_005434 NP_005425 Q13021 MALL_HUMAN Homo sapiens mal, T-cell differentiation protein-like (MALL), mRNA. 57 MARVEL. cholesterol homeostasis Golgi membrane|clathrin-coated vesicle|integral to membrane|membrane raft|plasma membrane protein binding p.G57A(2) kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 9 Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18) CATCACCCATCCTTGCAGCAA 0.433000 140 6 0 0 1 0 0 AKAP3 10566 broad.mit.edu 37 12 4736120 4736120 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:4736120G>A uc001qnb.4 - 3 2192 c.1948C>T c.(1948-1950)Ctt>Ttt p.L650F NM_006422 NP_006413 O75969 AKAP3_HUMAN Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA. 650 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 AGCCCAGAAAGGGCACCAGGG 0.522000 74 7 0 0 1 0 0 PLEKHA2 59339 broad.mit.edu 37 8 38809722 38809722 + Silent SNP C T T rs112121731 TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr8:38809722C>T uc003xmi.4 + 6 759 c.525C>T c.(523-525)tcC>tcT p.S175S PLEKHA2_uc011lce.2_Silent_p.S125S NM_021623 NP_067636 Q9HB19 PKHA2_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA. 175 positive regulation of cell-matrix adhesion cytoplasm|nucleus|plasma membrane|protein complex fibronectin binding|laminin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 13 all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235) AGCCCGGGTCCCACACCATCC 0.592000 29 6 0 0 1 0 0 LIMK1 3984 broad.mit.edu 37 7 73523279 73523279 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:73523279C>T uc003uaa.2 + 9 1411 c.1197C>T c.(1195-1197)ttC>ttT p.F399F LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Silent_p.F365F|LIMK1_uc003uac.1_Silent_p.F191F NM_002314 NP_002305 P53667 LIMK1_HUMAN Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA. 399 Protein kinase. Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) TGCTCAAGTTCATCGGGGTGC 0.602000 75 20 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995659 140995659 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:140995659G>A uc004fbt.3 + 3 2793 c.2469G>A c.(2467-2469)tcG>tcA p.S823S MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.S482S NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 823 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CCACTTCATCGAGTCTTTCCC 0.557000 HNSCC(15;0.026) 370 51 0 0 1 0 0 SV2A 9900 broad.mit.edu 37 1 149878254 149878254 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:149878254C>T uc001etg.3 - 10 2324 c.1833G>A c.(1831-1833)ggG>ggA p.G611G SV2A_uc009wlk.3_Silent_p.G63G|SV2A_uc001eth.2_Silent_p.G611G NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA. 611 G -> R (in Ref. 3; BAC11645). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) ACACGATATTCCCAGGAAGCA 0.577000 102 13 0 0 1 0 0 TRBV25-1 28562 broad.mit.edu 37 7 142378935 142378935 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:142378935C>T uc003waa.1 + 1 203 c.203C>T c.(202-204)tCc>tTc p.S68F TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron SubName: Full=V_segment translation product; Flags: Fragment; ATCCACTATTCCTATGGAGTT 0.463000 178 9 0 0 1 0 0 CPZ 8532 broad.mit.edu 37 4 8620195 8620195 + Missense_Mutation SNP G A A rs138232433 TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:8620195G>A uc003glm.3 + 9 1717 c.1543G>A c.(1543-1545)Ggc>Agc p.G515S CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.G504S|CPZ_uc003gln.3_Missense_Mutation_p.G378S NM_001014447 NP_001014448 Q66K79 CBPZ_HUMAN Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA. 515 Wnt receptor signaling pathway|proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AGATAAATTCGGCAAGCCAGT 0.607000 48 6 0 0 1 0 0 CCT6B 10693 broad.mit.edu 37 17 33288404 33288404 + Silent SNP C A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:33288404C>A uc002hig.3 - 0 125 c.9G>T c.(7-9)gcG>gcT p.A3A CCT6B_uc010ctg.3_Silent_p.A3A|CCT6B_uc010wcc.2_Silent_p.A3A|ZNF830_uc002hih.4_5'Flank NM_006584 NP_006575 Q92526 TCPW_HUMAN Homo sapiens chaperonin containing TCP1, subunit 6B (zeta 2) (CCT6B), transcript variant 1, mRNA. 3 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 20 Ovarian(249;0.17) CGGCCTTTATCGCAGCCATAG 0.582000 107 12 5.50884e-06 5.54861e-06 1 1 0 PCDHAC2 56134 broad.mit.edu 37 5 140181436 140181436 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:140181436G>A uc003lhf.2 + 0 654 c.654G>A c.(652-654)ggG>ggA p.G218G PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.G218G NM_018906 NP_061729 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA. 233 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGATGGTGGGAAACCAGAGC 0.393000 96 12 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 19015531 19015531 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:19015531C>T uc003sui.3 + 23 3166 c.3125C>T c.(3124-3126)tCc>tTc p.S1042F HDAC9_uc003sue.3_Missense_Mutation_p.S1039F|HDAC9_uc003suj.3_Missense_Mutation_p.S998F|HDAC9_uc003suk.3_Missense_Mutation_p.S287F NM_178425 NP_848512 Q9UKV0 HDAC9_HUMAN Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA. 0 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GCCCTGGCCTCCCTAACAGTG 0.537000 61 9 0 0 1 0 0 C4BPA 722 broad.mit.edu 37 1 207307800 207307800 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:207307800G>A uc001hfo.3 + 8 1330 c.1136G>A c.(1135-1137)aGg>aAg p.R379K NM_000715 NP_000706 P04003 C4BPA_HUMAN Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA. 379 Sushi 6. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 ACTCAACACAGGAAAAGTCGT 0.383000 146 22 0 0 1 0 0 LDHD 197257 broad.mit.edu 37 16 75147661 75147661 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr16:75147661C>T uc002fdm.3 - 6 1058 c.1006G>A c.(1006-1008)Gag>Aag p.E336K LDHD_uc002fdn.3_Missense_Mutation_p.E313K NM_153486 NP_705690 Q86WU2 LDHD_HUMAN Homo sapiens lactate dehydrogenase D (LDHD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 336 D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 16 AGCTGCTCCTCCAGTGCCTGC 0.627000 88 13 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16258504 16258504 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:16258504C>T uc001axk.1 + 10 5973 c.5769C>T c.(5767-5769)ccC>ccT p.P1923P SPEN_uc010obp.1_Silent_p.P1882P NM_015001 NP_055816 Q96T58 MINT_HUMAN Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA. 1923 Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent nucleus RNA binding|nucleotide binding|protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TCAAAGAGCCCGTTGAGCAAC 0.572000 131 9 0 0 1 0 0 RELA 5970 broad.mit.edu 37 11 65422357 65422357 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr11:65422357G>A uc010ron.2 - 10 1321 c.1181C>T c.(1180-1182)cCt>cTt p.P394L RELA_uc001off.3_Missense_Mutation_p.P383L|RELA_uc001ofh.3_Missense_Mutation_p.P380L|RELA_uc001ofg.3_Missense_Mutation_p.P383L|RELA_uc021qlq.1_Intron|RELA_uc009yqr.3_Missense_Mutation_p.P330L|RELA_uc001ofe.2_3'UTR NM_021975 NP_068810 Q04206 TF65_HUMAN Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog A (avian) (RELA), transcript variant 1, mRNA. 383 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to UV-B|response to interleukin-1|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|transcription factor complex NF-kappaB binding|activating transcription factor binding|chromatin binding|identical protein binding|phosphate binding|protein N-terminus binding|protein kinase binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1) 19 gacttggggaggggccggggc 0.652000 13 3 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79205600 79205600 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:79205600G>A uc003hlb.2 + 12 1737 c.1297G>A c.(1297-1299)Gac>Aac p.D433N FRAS1_uc003hkw.3_Missense_Mutation_p.D433N|FRAS1_uc003hky.1_Missense_Mutation_p.D137N|FRAS1_uc003hkz.3_Missense_Mutation_p.D137N|FRAS1_uc003hla.1_5'Flank NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 433 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TCAGTCTCCAGACCACTGTGA 0.458000 320 13 0 0 1 0 0 LOC341056 341056 broad.mit.edu 37 11 122889144 122889144 + RNA SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr11:122889144C>T uc010rzt.2 + 0 c.871C>T Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA. GGGAAGATTCCGAGTTGTTGC 0.498000 100 8 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117032999 117032999 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:117032999C>T uc011mtp.2 - 7 1982 c.1849G>A c.(1849-1851)Gat>Aat p.D617N KLHL13_uc004eqk.3_Missense_Mutation_p.D563N|KLHL13_uc004eql.3_Missense_Mutation_p.D614N|KLHL13_uc011mtn.2_Missense_Mutation_p.D454N|KLHL13_uc011mto.2_Missense_Mutation_p.D608N|KLHL13_uc011mtq.2_Missense_Mutation_p.D598N|KLHL13_uc004eqm.3_Missense_Mutation_p.D572N|KLHL13_uc022cde.1_Missense_Mutation_p.D598N NM_001168299 NP_001161775 Q9P2N7 KLH13_HUMAN Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA. 614 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TGCCATTCATCTTTATCTGGA 0.428000 188 9 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560884 44560884 + Missense_Mutation SNP T C C TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr18:44560884T>C uc002lcr.1 - 0 1105 c.752A>G c.(751-753)gAg>gGg p.E251G KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 251 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GCATGATTTCTCCCTGATCAA 0.567000 86 8 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40356304 40356304 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:40356304G>A uc003gva.1 + 4 1223 c.1207G>A c.(1207-1209)Gac>Aac p.D403N NM_017581 NP_060051 Q9UGM1 ACHA9_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA. 403 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity p.N402N(1) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) CTTAAAGAACGACCTGGGCTG 0.483000 78 9 0 0 1 0 0 OR1N2 138882 broad.mit.edu 37 9 125316132 125316133 + Silent DNP CC AT AT TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr9:125316132_125316133CC>AT uc011lyx.2 + 0 684_685 c.684_685CC>AT c.(682-687)ctcctg>ctATtg p.228_229LL>LL NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA. 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 CTGTTCCCCTCCTGCTGATCGT 0.505000 220 31 0 0 1 0 0 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5624860 5624860 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr11:5624860C>T uc001mbf.3 + 1 665 c.402C>T c.(400-402)ctC>ctT p.L134L HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Intron|TRIM6-TRIM34_uc010qzj.2_5'UTR|TRIM6-TRIM34_uc001mbc.2_Silent_p.L106L|TRIM6-TRIM34_uc001mbe.3_5'UTR|TRIM6-TRIM34_uc001mbd.3_Silent_p.L134L|TRIM6-TRIM34_uc010qzk.2_Intron|TRIM6-TRIM34_uc010qzl.2_Intron|TRIM6-TRIM34_uc009yep.1_5'Flank NM_001003819 NP_067629 B2RNG4 B2RNG4_HUMAN Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA. 134 intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) AACTGCAGCTCTTCTGTCAGG 0.557000 129 6 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196741396 196741396 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:196741396C>T uc002utj.4 - 36 6090 c.5989G>A c.(5989-5991)Gaa>Aaa p.E1997K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1997 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTGTAGATTTCCTTATTTAGT 0.303000 45 6 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140203180 140203180 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:140203180C>T uc003lhl.2 + 0 1820 c.1820C>T c.(1819-1821)tCg>tTg p.S607L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.S607L|PCDHAC2_uc003lhj.1_Missense_Mutation_p.S607L NM_018908 NP_061731 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA. 621 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTTGGCTTTCGTATGAGCTG 0.652000 104 21 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100352132 100352132 + Silent SNP T C C TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:100352132T>C uc003duc.3 + 3 626 c.358T>C c.(358-360)Ttg>Ctg p.L120L GPR128_uc011bhc.2_5'Flank NM_032787 NP_116176 Q96K78 GP128_HUMAN Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA. 120 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 GGCAGTCCGGTTGTGCAGTCT 0.313000 51 4 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10219297 10219297 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:10219297C>T uc002gmk.1 - 27 3874 c.3784G>A c.(3784-3786)Gaa>Aaa p.E1262K NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 1262 muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GCTTTGATTTCACTAAATTGA 0.448000 142 16 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811248 5811248 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:5811248G>A uc010ndi.3 - 6 2636 c.2172C>T c.(2170-2172)ttC>ttT p.F724F NLGN4X_uc004crp.3_Silent_p.F707F|NLGN4X_uc010ndh.3_Silent_p.F687F|NLGN4X_uc004crq.3_Silent_p.F687F|NLGN4X_uc004crr.3_Silent_p.F687F|NLGN4X_uc010ndj.3_Silent_p.F687F NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA. 687 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 AGATGTTGAGGAAGAGGAGCG 0.507000 180 16 0 0 1 0 0 FARSB 10056 broad.mit.edu 37 2 223504379 223504379 + Silent SNP A G G TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:223504379A>G uc010zlq.1 - 5 470 c.435T>C c.(433-435)gtT>gtC p.V145V FARSB_uc002vne.1_Silent_p.V125V|FARSB_uc002vnf.1_Silent_p.V26V NM_005687 NP_005678 Q9NSD9 SYFB_HUMAN Homo sapiens phenylalanyl-tRNA synthetase, beta subunit (FARSB), mRNA. 125 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|RNA binding|magnesium ion binding|phenylalanine-tRNA ligase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) TATTACGGAGAACTGCTGCTA 0.333000 56 10 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168119658 168119658 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:168119658G>A uc010jjg.3 - 28 3571 c.3151C>T c.(3151-3153)Ctc>Ttc p.L1051F SLIT3_uc003mab.3_Missense_Mutation_p.L1044F NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 1044 EGF-like 4. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGCTGACAGAGGTTCAGCTCA 0.572000 79 9 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90816662 90816662 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:90816662G>A uc003hst.3 + 0 611 c.540G>A c.(538-540)cgG>cgA p.R180R MMRN1_uc010iku.3_Silent_p.R146R NM_007351 NP_031377 Q13201 MMRN1_HUMAN Homo sapiens multimerin 1 (MMRN1), mRNA. 180 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GAGCCCCACGGGAAACATACC 0.473000 72 8 0 0 1 0 0 GCM2 9247 broad.mit.edu 37 6 10874870 10874870 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr6:10874870C>T uc003mzn.4 - 4 951 c.879G>A c.(877-879)aaG>aaA p.K293K SYCP2L_uc011dim.1_Intron NM_004752 NP_004743 O75603 GCM2_HUMAN Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA. 293 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) TGGTGGAATCCTTATAAAGGG 0.413000 336 12 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189859549 189859549 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:189859549G>A uc002uqj.1 + 19 1564 c.1447G>A c.(1447-1449)Gga>Aga p.G483R MIR3606_uc021vtx.1_5'Flank NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 483 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AGGAGCTGCAGGAGAAAGGGT 0.483000 117 6 0 0 1 0 0 ESRRG 2104 broad.mit.edu 37 1 216824393 216824393 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:216824393C>T uc001hkw.2 - 2 684 c.511G>A c.(511-513)Gaa>Aaa p.E171K ESRRG_uc009xdp.1_Missense_Mutation_p.E148K|ESRRG_uc001hky.1_Missense_Mutation_p.E148K|ESRRG_uc001hkz.2_Intron|ESRRG_uc010puc.2_Missense_Mutation_p.E148K|ESRRG_uc001hla.2_Missense_Mutation_p.E148K|ESRRG_uc001hlb.2_Missense_Mutation_p.E148K|ESRRG_uc010pud.2_5'UTR|ESRRG_uc021pja.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.E148K|ESRRG_uc001hld.1_Missense_Mutation_p.E148K|ESRRG_uc001hkx.2_Missense_Mutation_p.E176K|ESRRG_uc009xdo.2_Missense_Mutation_p.E148K|ESRRG_uc001hle.2_Missense_Mutation_p.E148K|ESRRG_uc021piz.1_Missense_Mutation_p.E148K|Mir_598_uc021pjb.1_5'Flank NM_001438 NP_001230435 P62508 ERR3_HUMAN Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA. 171 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TTTGTGATTTCACATTCATTC 0.433000 133 9 0 0 1 0 0 TAF1B 9014 broad.mit.edu 37 2 9991705 9991705 + Nonsense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:9991705C>T uc002qzz.3 + 3 341 c.241C>T c.(241-243)Cag>Tag p.Q81* TAF1B_uc010exc.2_Nonsense_Mutation_p.Q81*|TAF1B_uc002qzy.4_Nonsense_Mutation_p.Q81*|TAF1B_uc010yja.2_5'UTR|TAF1B_uc010exd.3_5'UTR NM_005680 NP_005671 Q53T94 TAF1B_HUMAN Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA. 81 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TGAAGGTTTCCAGTATATTCT 0.343000 59 7 0 0 1 0 0 OR2T34 127068 broad.mit.edu 37 1 248737528 248737528 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:248737528C>T uc001iep.1 - 0 531 c.531G>A c.(529-531)agG>agA p.R177R NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA. 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCAGGATTTTCCTAGACTGGC 0.527000 143 13 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196695652 196695652 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:196695652G>A uc001gtj.4 + 12 2166 c.1926G>A c.(1924-1926)aaG>aaA p.K642K CFH_uc021pgt.1_Intron NM_000186 NP_000177 P08603 CFAH_HUMAN Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 642 Sushi 11. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 GGAATGTTAAGGAAAAAACGA 0.338000 33 5 0 0 1 0 0 LTF 4057 broad.mit.edu 37 3 46497366 46497366 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:46497366C>T uc003cpq.3 - 3 660 c.419G>A c.(418-420)aGg>aAg p.R140K LTF_uc003fzr.3_Missense_Mutation_p.R96K|LTF_uc010hjh.3_Missense_Mutation_p.R140K|LTF_uc003cpr.3_Missense_Mutation_p.R127K NM_002343 NP_001186078 P02788 TRFL_HUMAN Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA. 140 Transferrin-like 1. Missing (in Ref. 13; AA sequence). cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) TCCAGCGGTCCTGCGAAGGCC 0.557000 77 11 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100237199 100237199 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:100237199G>A uc003hus.4 - 4 507 c.423C>T c.(421-423)ttC>ttT p.F141F ADH1B_uc003hut.4_Silent_p.F101F|ADH1B_uc011ceh.2_Intron|ADH1B_uc011cei.1_Silent_p.F101F NM_000668 NP_000659 P00325 ADH1B_HUMAN Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA. 141 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TGGTGCCAAGGAAGTGGTGAA 0.577000 134 17 0 0 1 0 0 GPR83 10888 broad.mit.edu 37 11 94113447 94113447 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr11:94113447G>A uc001pet.2 - 3 1312 c.1140C>T c.(1138-1140)tcC>tcT p.S380S NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA. 380 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CCACCCTGAAGGAAGGAACTG 0.562000 111 11 0 0 1 0 0 ZC3H18 124245 broad.mit.edu 37 16 88691145 88691145 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr16:88691145C>T uc010voz.2 + 12 2306 c.2106C>T c.(2104-2106)ccC>ccT p.P702P ZC3H18_uc002fky.3_Silent_p.P678P|ZC3H18_uc010chw.3_Non-coding_Transcript|ZC3H18_uc002fkz.3_5'Flank NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA. 678 Ser-rich. nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) CCAGGACCCCCCCCAGGAGGT 0.667000 29 5 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13867056 13867056 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:13867056G>A uc010gcf.3 - 8 860 c.778C>T c.(778-780)Cca>Tca p.P260S SEL1L2_uc002woq.4_Missense_Mutation_p.P121S|SEL1L2_uc010zrl.2_Missense_Mutation_p.P260S|SEL1L2_uc002wor.3_Non-coding_Transcript NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA. 260 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 TTTTCCACTGGAACACCTTCA 0.363000 50 5 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72942158 72942158 + Nonsense_Mutation SNP G T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr8:72942158G>T uc003xza.3 - 23 3090 c.2915C>A c.(2914-2916)tCa>tAa p.S972* LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA. 972 integral to plasma membrane p.S972T(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) CCTCTTCAATGATGCATGTTT 0.388000 70 11 1.08611e-07 1.09791e-07 1 1 0 IL12RB1 3594 broad.mit.edu 37 19 18179295 18179295 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:18179295C>T uc002nhx.1 - 11 1402 c.1351G>A c.(1351-1353)Gaa>Aaa p.E451K IL12RB1_uc002nhw.1_Missense_Mutation_p.E411K|IL12RB1_uc010xqb.1_Missense_Mutation_p.E411K NM_005535 NP_005526 P42701 I12R1_HUMAN Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA. 411 Fibronectin type-III 5. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 TAACACTTTTCCTGCCCCATT 0.532000 215 8 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482555 140482555 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:140482555C>T uc003lio.3 + 0 2322 c.2322C>T c.(2320-2322)ttC>ttT p.F774F BC016751_uc003lin.3_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 774 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCCCAACTTCGTTGCTCAGG 0.507000 118 19 0 0 1 0 0 APPL2 55198 broad.mit.edu 37 12 105582194 105582194 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:105582194C>T uc010swu.1 - 16 1727 c.1509G>A c.(1507-1509)cgG>cgA p.R503R APPL2_uc010swt.2_Silent_p.R454R|APPL2_uc001tlf.1_Silent_p.R497R|APPL2_uc001tlg.1_Silent_p.R251R|APPL2_uc009zuq.3_Silent_p.R454R NM_001251904 NP_001238833 Q8NEU8 DP13B_HUMAN Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA. 497 PID. cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 ATCCCAAAAACCGAACTATAA 0.428000 55 6 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27233714 27233714 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:27233714C>T uc010hfk.3 - 4 476 c.247G>A c.(247-249)Gaa>Aaa p.E83K NEK10_uc003cds.1_Missense_Mutation_p.E168K|NEK10_uc010hfj.3_Missense_Mutation_p.E83K Q6ZWH5 NEK10_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA. 771 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E771K(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GGACGAGCTTCCGCATCAGGA 0.408000 74 7 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546725 11546725 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:11546725C>T uc010shk.1 - 2 322 c.287G>A c.(286-288)gGa>gAa p.G96E NM_006248 NP_006239 Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA. p.G95A(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTGTGGCTTTCCTGGAGGTGG 0.612000 628 22 0 0 1 0 0 COQ5 84274 broad.mit.edu 37 12 120966895 120966895 + Nonsense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:120966895C>T uc001tyn.3 - 0 70 c.50G>A c.(49-51)tGg>tAg p.W17* COQ5_uc010szj.2_Nonsense_Mutation_p.W17* NM_032314 NP_115690 Q5HYK3 COQ5_HUMAN Homo sapiens coenzyme Q5 homolog, methyltransferase (S. cerevisiae) (COQ5), nuclear gene encoding mitochondrial protein, mRNA. 17 ubiquinone biosynthetic process mitochondrion methyltransferase activity p.G16E(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGCCCGCGACCACCCACGGCC 0.652000 52 9 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89348218 89348218 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr16:89348218G>A uc002fmx.1 - 8 5193 c.4732C>T c.(4732-4734)Ctg>Ttg p.L1578L ANKRD11_uc002fmy.1_Silent_p.L1578L|ANKRD11_uc002fnc.1_Silent_p.L1578L|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.L1535L NM_013275 NP_037407 Q6UB99 ANR11_HUMAN Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA. 1578 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GTCATCATCAGGTCGCCGTCC 0.577000 80 8 0 0 1 0 0 FAM58BP 339521 broad.mit.edu 37 1 200183057 200183057 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:200183057G>A uc009wzi.1 + 0 402 c.366G>A c.(364-366)cgG>cgA p.R122R NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA. 122 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding lung(1) 1 GGGAGCTCCGGGACAGCATTG 0.572000 133 11 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74006137 74006137 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:74006137G>A uc010wss.1 - 21 3443 c.3215C>T c.(3214-3216)tCg>tTg p.S1072L EVPL_uc002jqi.2_Missense_Mutation_p.S1050L|EVPL_uc010wst.1_Missense_Mutation_p.S520L NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1050 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CAGCCGGGCCGAGATGACGGC 0.637000 193 9 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626876 108626876 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:108626876G>A uc002tdv.3 + 8 1578 c.1302G>A c.(1300-1302)ggG>ggA p.G434G SLC5A7_uc010ywm.2_Silent_p.G187G|SLC5A7_uc010fjj.3_Silent_p.G434G|SLC5A7_uc010ywn.2_Silent_p.G321G NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA. 434 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) ACACCTATGGGGCCGTGGCAG 0.493000 101 7 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4567036 4567036 + Missense_Mutation SNP G C C TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr11:4567036G>C uc010qyf.2 + 0 616 c.616G>C c.(616-618)Ggc>Cgc p.G206R NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA. 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTGAGCATCGGCTTTCTGGT 0.502000 261 11 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3777981 3777981 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr16:3777981G>A uc002cvv.3 - 30 7271 c.7067C>T c.(7066-7068)tCc>tTc p.S2356F CREBBP_uc002cvw.3_Missense_Mutation_p.S2318F NM_004380 NP_004371 Q92793 CBP_HUMAN Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA. 2356 N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia cytoplasm|nuclear body MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGGAGGCTGGGACTGGGGCCG 0.667000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 119 17 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33142311 33142311 + Missense_Mutation SNP C T T rs121912948 TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr6:33142311C>T uc003ocx.1 - 30 2651 c.2423G>A c.(2422-2424)gGa>gAa p.G808E COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G722E|COL11A2_uc003ocz.1_Missense_Mutation_p.G701E NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 808 Triple-helical region. G -> E (in DFNA13). cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CACCTTGGGTCCCTGACGTCC 0.602000 27 3 0 0 1 0 0 ZNF295 49854 broad.mit.edu 37 21 43411620 43411620 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr21:43411620G>A uc021wjo.1 - 0 2585 c.2585C>T c.(2584-2586)tCt>tTt p.S862F ZNF295_uc002yzz.4_Missense_Mutation_p.S661F|ZNF295_uc002zab.4_Missense_Mutation_p.S862F|ZNF295_uc002yzy.4_Missense_Mutation_p.S862F|ZNF295_uc002zaa.4_Missense_Mutation_p.S862F NM_020727 NP_065778 Q9ULJ3 ZN295_HUMAN Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA. 862 negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methyl-CpG binding|protein binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 GGGAAGACAAGAGGAATCTTC 0.488000 189 11 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79423632 79423632 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr14:79423632G>A uc001xun.3 + 7 1695 c.1204G>A c.(1204-1206)Gag>Aag p.E402K NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.E527K NM_004796 NP_004787 Q9HDB5 NRX3B_HUMAN Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA. 172 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CAATGACAACGAGTGGCACAC 0.473000 152 10 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170204061 170204061 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:170204061G>A uc003fgz.2 - 4 1172 c.856C>T c.(856-858)Cct>Tct p.P286S CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA. 286 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) ATAGCATAAGGGATGGACGTG 0.537000 82 7 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140166458 140166458 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:140166458G>A uc003lhb.2 + 0 583 c.583G>A c.(583-585)Gaa>Aaa p.E195K PCDHAC2_uc003lha.2_Missense_Mutation_p.E195K|PCDHAC2_uc003lgz.3_Missense_Mutation_p.E195K NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 210 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTTGGCTTGAATTGAGAAA 0.438000 102 13 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92733395 92733395 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:92733395G>A uc003umf.3 - 2 2286 c.2016C>T c.(2014-2016)ttC>ttT p.F672F SAMD9_uc003umg.3_Silent_p.F672F|SAMD9_uc022ahg.1_Silent_p.F672F NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 672 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TGAATTCAAGGAATTTATTTT 0.378000 135 16 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13714594 13714594 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:13714594C>T uc003jfd.2 - 74 13087 c.13045G>A c.(13045-13047)Gat>Aat p.D4349N DNAH5_uc003jfc.2_Missense_Mutation_p.D517N NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4349 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.D4349Y(2) 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) CGGGTCTCATCCCCTCCACCA 0.587000 Kartagener syndrome 138 16 0 0 1 0 0 GNB5 10681 broad.mit.edu 37 15 52439677 52439677 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr15:52439677G>A uc002abt.1 - 5 538 c.473C>T c.(472-474)tCg>tTg p.S158L GNB5_uc002abr.1_Missense_Mutation_p.S116L|GNB5_uc002abs.1_Intron NM_016194 NP_057278 O14775 GBB5_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), beta 5 (GNB5), transcript variant 2, mRNA. 158 heterotrimeric G-protein complex GTPase activity|signal transducer activity large_intestine(1)|lung(1) 2 all cancers(107;0.0163) GGCACATCCCGATGGGGCATA 0.468000 135 16 0 0 1 0 0 CALD1 800 broad.mit.edu 37 7 134632371 134632371 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:134632371G>A uc003vrz.3 + 7 2111 c.1645G>A c.(1645-1647)Gaa>Aaa p.E549K CALD1_uc003vry.3_Missense_Mutation_p.E294K|CALD1_uc003vsb.3_Missense_Mutation_p.E294K|CALD1_uc011kpt.2_Missense_Mutation_p.E68K|CALD1_uc010lmm.3_Missense_Mutation_p.E320K|CALD1_uc003vsc.3_Missense_Mutation_p.E314K|CALD1_uc003vsd.3_Missense_Mutation_p.E288K|CALD1_uc011kpu.2_Missense_Mutation_p.E299K|CALD1_uc011kpv.2_Missense_Mutation_p.E158K|CALD1_uc003vse.3_Missense_Mutation_p.E413K NM_033138 NP_149129 Q05682 CALD1_HUMAN Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA. 549 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 GACCGAGAGCGAAGAGTTCGA 0.617000 11 3 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50464072 50464072 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:50464072G>A uc010ybh.2 - 1 288 c.197C>T c.(196-198)tCt>tTt p.S66F SIGLEC11_uc010ybi.2_Missense_Mutation_p.S66F NM_052884 NP_443116 Q96RL6 SIG11_HUMAN Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA. 66 Ig-like V-type. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) AGCAGCAGTAGACTCGTCCCA 0.582000 60 9 0 0 1 0 0 C12orf77 196415 broad.mit.edu 37 12 25149226 25149226 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:25149226C>T uc001rgf.3 - 1 256 c.51G>A c.(49-51)aaG>aaA p.K17K NM_001101339 NP_001094809 C9JDV5 CL097_HUMAN Homo sapiens chromosome 12 open reading frame 77 (C12orf77), mRNA. 17 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 TGCTGGCTTCCTTTATGACTA 0.423000 76 6 0 0 1 0 0 CPA1 1357 broad.mit.edu 37 7 130025015 130025015 + Silent SNP G A A rs34843162 byFrequency TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:130025015G>A uc003vpx.3 + 7 888 c.816G>A c.(814-816)tcG>tcA p.S272S CPA1_uc003vpw.2_Silent_p.S106S NM_001868 NP_001859 P15085 CBPA1_HUMAN Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA. 272 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding p.S272L(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) ACCCCTGCTCGGAGACTTACC 0.552000 98 23 0 0 1 0 0 GYG1 2992 broad.mit.edu 37 3 148714596 148714596 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:148714596C>T uc003ewn.3 + 3 619 c.386C>T c.(385-387)cCt>cTt p.P129L GYG1_uc011bnp.2_Missense_Mutation_p.P129L|GYG1_uc003ewo.3_Missense_Mutation_p.P129L|GYG1_uc003ewp.3_Missense_Mutation_p.P129L NM_004130 NP_004121 P46976 GLYG_HUMAN Homo sapiens glycogenin 1 (GYG1), transcript variant 1, mRNA. 129 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol glycogenin glucosyltransferase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) CCAGGGTGGCCTGACTGCTTC 0.433000 102 5 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883851 228883851 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:228883851C>T uc002vpq.2 - 6 1766 c.1719G>A c.(1717-1719)ctG>ctA p.L573L SPHKAP_uc002vpp.2_Silent_p.L573L|SPHKAP_uc010zlx.1_Silent_p.L573L NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 573 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTCTTTCACCCAGACCACAGA 0.552000 192 20 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79058840 79058840 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr15:79058840C>T uc002bej.4 - 18 3624 c.3413G>A c.(3412-3414)gGc>gAc p.G1138D ADAMTS7_uc010und.1_3'UTR NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 1138 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 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 TGGGGAGCGGCCGGCCTGGCT 0.672000 10 3 0 0 1 0 0 FAM83G 644815 broad.mit.edu 37 17 18882979 18882979 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:18882979C>T uc002guw.3 - 3 865 c.698G>A c.(697-699)aGa>aAa p.R233K SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA. 233 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 GCTCCGCACTCTGAGATTCTG 0.592000 139 11 0 0 1 0 0 MMP27 64066 broad.mit.edu 37 11 102564653 102564653 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr11:102564653C>T uc001phd.1 - 7 1200 c.1177G>A c.(1177-1179)Ggc>Agc p.G393S NM_022122 NP_071405 Q9H306 MMP27_HUMAN Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA. 393 Hemopexin-like 3. collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) CACCAAATGCCCACAAAGAAG 0.363000 107 8 0 0 1 0 0 KIF4A 24137 broad.mit.edu 37 X 69521799 69521799 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:69521799C>T uc004dyg.3 + 5 709 c.566C>T c.(565-567)tCc>tTc p.S189F KIF4A_uc010nkw.3_Missense_Mutation_p.S189F|KIF4A_uc004dyf.2_Missense_Mutation_p.S189F NM_012310 NP_036442 O95239 KIF4A_HUMAN Homo sapiens kinesin family member 4A (KIF4A), mRNA. 189 Kinesin-motor. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 GATACTGTTTCCTGTTTGGAA 0.438000 132 21 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43307487 43307487 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr6:43307487G>A uc003oux.3 - 9 4327 c.4249C>T c.(4249-4251)Cta>Tta p.L1417L ZNF318_uc003ouw.3_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN Homo sapiens zinc finger protein 318 (ZNF318), mRNA. 1417 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GACCCTTTTAGAATCACCTCT 0.483000 66 8 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505256 195505256 + Silent SNP G A A rs140469862 TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:195505256G>A uc021xjp.1 - 2 13017 c.12861C>T c.(12859-12861)tcC>tcT p.S4287S MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Silent_p.S28S|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Silent_p.S28S|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Silent_p.S51S|MUC4_uc003fvp.3_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 1044 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGATGGTCTGGGAGGTTGTGG 0.592000 78 5 0 0 1 0 0 ARHGAP4 393 broad.mit.edu 37 X 153186238 153186238 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:153186238G>A uc004fjk.2 - 4 581 c.523C>T c.(523-525)Cac>Tac p.H175Y ARHGAP4_uc011mzf.2_Missense_Mutation_p.H152Y|ARHGAP4_uc004fjl.2_Missense_Mutation_p.H175Y|ARHGAP4_uc010nup.2_Non-coding_Transcript NM_001666 NP_001657 P98171 RHG04_HUMAN Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA. 175 Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTCTCCATGTGATATGCCTGG 0.677000 116 12 0 0 1 0 0 DNASE2 1777 broad.mit.edu 37 19 12989323 12989323 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:12989323G>A uc002mvn.1 - 4 728 c.582C>T c.(580-582)ttC>ttT p.F194F DNASE2_uc010xmr.1_Silent_p.F139F NM_001375 NP_001366 O00115 DNS2A_HUMAN Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA. 194 apoptosis lysosome DNA binding|deoxyribonuclease II activity|protein binding breast(1)|large_intestine(1)|lung(4)|ovary(1) 7 CCAAGTCGGGGAATTCCTGGG 0.562000 70 8 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215884074 215884074 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:215884074G>A uc002vew.3 - 12 1863 c.1643C>T c.(1642-1644)gCt>gTt p.A548V ABCA12_uc002vev.3_Missense_Mutation_p.A230V|ABCA12_uc010zjn.2_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 548 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTTTTCAGAAGCATCTGCACT 0.378000 63 8 0 0 1 0 0 CES5A 221223 broad.mit.edu 37 16 55883624 55883624 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr16:55883624C>T uc021tir.1 - 11 1568 c.1422G>A c.(1420-1422)acG>acA p.T474T CES5A_uc002eip.2_Silent_p.T445T|CES5A_uc002eio.2_Intron|CES5A_uc002eiq.2_Silent_p.T206T|CES5A_uc002eir.2_Silent_p.T339T NM_001190158 NP_001177087 Q6NT32 EST5A_HUMAN Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA. 445 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 AAGCTGGCTTCGTGTCTTCAA 0.537000 163 16 0 0 1 0 0 PER2 8864 broad.mit.edu 37 2 239179979 239179979 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:239179979G>A uc002vyc.3 - 5 983 c.746C>T c.(745-747)cCc>cTc p.P249L PER2_uc010znv.1_Missense_Mutation_p.P249L|PER2_uc010znw.1_Missense_Mutation_p.P249L|PER2_uc010fyx.1_Missense_Mutation_p.P249L NM_022817 NP_073728 O15055 PER2_HUMAN Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA. 249 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) GCTCCACAAGGGAAGCTTGTA 0.577000 192 10 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38884058 38884058 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:38884058G>A uc003jln.2 + 4 950 c.548G>A c.(547-549)gGg>gAg p.G183E OSMR_uc003jlm.2_Missense_Mutation_p.G183E NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 183 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TATTTGGAAGGGAAACAGATT 0.363000 113 8 0 0 1 0 0 RORB 6096 broad.mit.edu 37 9 77300481 77300481 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr9:77300481C>T uc004aji.3 + 9 1409 c.1360C>T c.(1360-1362)Cct>Tct p.P454S RORB_uc004ajh.3_Missense_Mutation_p.P443S NM_006914 NP_008845 Q92753 RORB_HUMAN Homo sapiens RAR-related orphan receptor B (RORB), mRNA. 454 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 TACACTGTTTCCTCCGTTATA 0.453000 141 17 0 0 1 0 0 SUSD4 55061 broad.mit.edu 37 1 223402632 223402632 + Missense_Mutation SNP C T T rs141716617 by1000genomes TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:223402632C>T uc001hnx.3 - 4 1457 c.823G>A c.(823-825)Gat>Aat p.D275N SUSD4_uc001hny.4_Missense_Mutation_p.D275N|SUSD4_uc010puw.2_Missense_Mutation_p.D115N NM_017982 NP_060452 Q5VX71 SUSD4_HUMAN Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA. 275 Sushi 4. integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) TAGCCAGGATCGCAGTAAAAC 0.517000 112 12 0 0 1 0 0 TSSK1B 83942 broad.mit.edu 37 5 112769552 112769552 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:112769552C>T uc003kqm.2 - 0 1177 c.985G>A c.(985-987)Gag>Aag p.E329K MCC_uc003kql.4_Intron NM_032028 NP_114417 Q9BXA7 TSSK1_HUMAN Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA. 329 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) GCTGTCCCCTCGGGTTTTGTC 0.617000 26 6 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1420737 1420737 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:1420737C>T uc003jck.3 - 5 1000 c.874G>A c.(874-876)Gac>Aac p.D292N NM_001044 NP_001035 Q01959 SC6A3_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA. 292 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) CTGATGCCGTCTATGGCTCCA 0.597000 152 13 0 0 1 0 0 SLC4A10 57282 broad.mit.edu 37 2 162751276 162751276 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:162751276C>T uc002ubx.4 + 10 1466 c.1282C>T c.(1282-1284)Cct>Tct p.P428S SLC4A10_uc010fpa.1_Missense_Mutation_p.P440S|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.P409S|SLC4A10_uc002uby.4_Missense_Mutation_p.P398S NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 428 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TACTGTTCTCCCTCCTGGAGA 0.363000 70 8 0 0 1 0 0 KIAA0240 23506 broad.mit.edu 37 6 42796837 42796837 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr6:42796837C>T uc003osn.1 + 5 917 c.766C>T c.(766-768)Cat>Tat p.H256Y KIAA0240_uc003osm.1_Missense_Mutation_p.H256Y|KIAA0240_uc011duw.1_Missense_Mutation_p.H256Y|KIAA0240_uc003oso.1_Missense_Mutation_p.H256Y|KIAA0240_uc003osp.1_Missense_Mutation_p.H256Y NM_015349 NP_056164 Q6AI39 K0240_HUMAN Homo sapiens KIAA0240 (KIAA0240), mRNA. 256 NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3) 44 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) GCTCCTGGTTCATAGACAGAC 0.448000 119 15 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49218716 49218716 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:49218716C>T uc010zyt.2 - 12 1803 c.1552G>A c.(1552-1554)Gag>Aag p.E518K FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.E514K|FAM65C_uc002xvn.1_Missense_Mutation_p.E514K NM_080829 NP_543019 Q96MK2 FA65C_HUMAN Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA. 514 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGAGGCCCCTCGAGGGCCACG 0.697000 35 8 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106558296 106558296 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr11:106558296G>A uc009yxn.1 - 8 2661 c.2271C>T c.(2269-2271)ttC>ttT p.F757F GUCY1A2_uc001pjg.1_Silent_p.F726F|GUCY1A2_uc010rvo.1_Silent_p.F747F NM_000855 NP_000846 P33402 GCYA2_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA. 726 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) TCTCCCGGAGGAACATGGTGC 0.493000 143 16 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100364790 100364790 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:100364790C>T uc003uwj.3 + 24 4935 c.4770C>T c.(4768-4770)cgC>cgT p.R1590R ZAN_uc003uwk.3_Silent_p.R1590R|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Silent_p.R167R NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 1590 VWFD 2. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACGAGAACCGCGGGGGGATCC 0.572000 63 14 0 0 1 0 0 ZNF76 7629 broad.mit.edu 37 6 35258483 35258483 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr6:35258483C>T uc003oki.1 + 6 820 c.615C>T c.(613-615)gcC>gcT p.A205A ZNF76_uc011dsy.1_Silent_p.A205A|ZNF76_uc011dsz.1_Silent_p.A205A|ZNF76_uc003okj.1_Silent_p.A205A NM_003427 NP_003418 P36508 ZNF76_HUMAN Homo sapiens zinc finger protein 76 (ZNF76), mRNA. 205 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 GTGGAAAGGCCTTTGCCACAG 0.547000 164 22 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150912638 150912638 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:150912638G>A uc004fey.1 + 6 1887 c.1663G>A c.(1663-1665)Gat>Aat p.D555N NM_005140 NP_005131 Q16280 CNGA2_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA. 555 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) GTCCAAGGATGATCTTATGGA 0.493000 252 25 0 0 1 0 0 LOC401127 401127 broad.mit.edu 37 4 39482584 39482584 + RNA SNP T C C rs17438520 by1000genomes TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:39482584T>C uc011byn.2 + 0 c.710T>C Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA. GCCACAAGACTGCTAGCTCAC 0.453000 71 4 0 0 1 0 0 NAIF1 203245 broad.mit.edu 37 9 130828906 130828906 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr9:130828906C>T uc004bta.3 - 0 694 c.475G>A c.(475-477)Gcc>Acc p.A159T SLC25A25_uc004btb.3_5'Flank NM_197956 NP_931045 Q69YI7 NAIF1_HUMAN Homo sapiens nuclear apoptosis inducing factor 1 (NAIF1), mRNA. 159 apoptosis|induction of apoptosis nucleus p.A159T(2) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GCTGCGGTGGCCGAGGGTCCG 0.657000 55 18 0 0 1 0 0 CPXM1 56265 broad.mit.edu 37 20 2774958 2774958 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:2774958G>A uc002wgu.3 - 13 2157 c.2083C>T c.(2083-2085)Ccc>Tcc p.P695S CPXM1_uc010gas.3_Missense_Mutation_p.P621S NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA. 695 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 AAATTGCAGGGGAAGGGGCCC 0.642000 91 8 0 0 1 0 0 OR10H4 126541 broad.mit.edu 37 19 16060459 16060459 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:16060459C>T uc010xov.2 + 0 642 c.642C>T c.(640-642)ttC>ttT p.F214F NM_001004465 NP_001004465 Q8NGA5 O10H4_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA. 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 GCTGTTTATTCCTCATCATCC 0.488000 306 28 0 0 1 0 0 AWAT1 158833 broad.mit.edu 37 X 69455673 69455673 + Splice_Site SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:69455673G>A uc004dxy.3 + 2 225 c.184_splice c.e2+1 p.G62_splice NM_001013579 NP_001013597 Q58HT5 AWAT1_HUMAN Homo sapiens acyl-CoA wax alcohol acyltransferase 1 (AWAT1), mRNA. 62 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1) 15 CCCAGAGCGAGGTAAGACTCA 0.522000 127 18 0 0 1 0 0 SULT1E1 6783 broad.mit.edu 37 4 70721046 70721046 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:70721046C>T uc003heo.3 - 2 357 c.244G>A c.(244-246)Gaa>Aaa p.E82K SULT1E1_uc010ihv.1_Missense_Mutation_p.E82K NM_005420 NP_005411 P49888 ST1E1_HUMAN Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA. 82 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 TTTCTGCATTCCAGGAAAGGT 0.333000 37 5 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24170996 24170996 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr8:24170996C>T uc003xdy.3 + 5 562 c.479C>T c.(478-480)cCt>cTt p.P160L ADAM28_uc003xdx.3_Missense_Mutation_p.P160L|ADAM28_uc011kzz.2_Intron|ADAM28_uc011laa.2_Non-coding_Transcript NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 160 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AAGTATAACCCTGATGAAAAG 0.473000 131 17 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24762237 24762237 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr10:24762237G>A uc001iru.4 + 5 1330 c.927G>A c.(925-927)gcG>gcA p.A309A KIAA1217_uc001irs.3_Silent_p.A229A|KIAA1217_uc001irt.4_Silent_p.A309A|KIAA1217_uc010qcy.2_Silent_p.A309A|KIAA1217_uc010qcz.2_Silent_p.A309A|KIAA1217_uc001irv.1_Silent_p.A159A|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.A27A|KIAA1217_uc001irz.3_Silent_p.A27A|KIAA1217_uc001irx.3_Silent_p.A27A|KIAA1217_uc001iry.3_Silent_p.A27A NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 309 Pro-rich. embryonic skeletal system development cytoplasm p.A309V(1) breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CACCCCATGCGATTCCAAATT 0.567000 149 18 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160808026 160808026 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:160808026C>T uc002ube.2 - 23 3577 c.3365G>A c.(3364-3366)gGa>gAa p.G1122E PLA2R1_uc010zcp.2_Missense_Mutation_p.G1122E|PLA2R1_uc002ubf.3_Missense_Mutation_p.G1122E NM_007366 NP_031392 Q13018 PLA2R_HUMAN Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA. 1122 C-type lectin 7. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 AGTTCTGTTTCCATATTCTAA 0.378000 106 9 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197090573 197090573 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:197090573G>A uc002utm.1 - 22 4122 c.3939C>T c.(3937-3939)atC>atT p.I1313I HECW2_uc002utl.1_Silent_p.I957I NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 1313 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CAAGACCAAGGATCCTACCAC 0.423000 61 8 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98816131 98816131 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr10:98816131C>T uc001kmw.2 - 12 1500 c.1248G>A c.(1246-1248)aaG>aaA p.K416K SLIT1_uc009xvh.1_Silent_p.K426K NM_003061 NP_003052 O75093 SLIT1_HUMAN Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA. 416 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space Roundabout binding|calcium ion binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GGCTCTGGATCTTGTTGTCAT 0.597000 182 13 0 0 1 0 0 TNPO3 23534 broad.mit.edu 37 7 128615876 128615876 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:128615876G>A uc010lly.2 - 16 2680 c.2277C>T c.(2275-2277)ctC>ctT p.L759L TNPO3_uc010llx.2_Silent_p.L136L|TNPO3_uc003vol.2_Silent_p.L725L|TNPO3_uc010llz.2_Silent_p.L661L|TNPO3_uc003vom.2_Silent_p.L659L NM_012470 NP_036602 Q9Y5L0 TNPO3_HUMAN Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA. 725 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 AAGATACCTGGAGCATGTCTA 0.483000 71 8 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53564540 53564540 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:53564540G>A uc004dsp.3 - 77 12516 c.12114C>T c.(12112-12114)tcC>tcT p.S4038S HUWE1_uc004dsn.3_Silent_p.S2846S|HUWE1_uc004dsq.1_Silent_p.S338S NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA. 4038 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TTTCTTCGGGGGATTTGCGAT 0.547000 43 4 0 0 1 0 0 PNPLA7 375775 broad.mit.edu 37 9 140358635 140358635 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr9:140358635G>A uc010ncj.1 - 27 3506 c.3169C>T c.(3169-3171)Cct>Tct p.P1057S PNPLA7_uc004cnd.1_Missense_Mutation_p.P298S|PNPLA7_uc004cne.1_Missense_Mutation_p.P298S|PNPLA7_uc011mfa.1_Missense_Mutation_p.P440S|PNPLA7_uc004cnf.2_Missense_Mutation_p.P1032S NM_001098537 NP_001092007 Q6ZV29 PLPL7_HUMAN Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA. 1032 Patatin. lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GCGAAATAAGGAATCCACAGG 0.672000 56 4 0 0 1 0 0 APOBEC1 339 broad.mit.edu 37 12 7802272 7802272 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:7802272C>T uc001qtb.3 - 4 616 c.582G>A c.(580-582)aaG>aaA p.K194K APOBEC1_uc001qtc.3_Silent_p.K149K NM_001644 NP_001635 P41238 ABEC1_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA. 194 DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm RNA binding|cytidine deaminase activity|zinc ion binding p.K194K(2) kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 TTCTTGAAATCTTTAAACAGG 0.313000 45 4 0 0 1 0 0 LAMP5 24141 broad.mit.edu 37 20 9496973 9496973 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:9496973C>T uc002wni.2 + 3 935 c.440C>T c.(439-441)tCc>tTc p.S147F LAMP5_uc010zrc.2_Missense_Mutation_p.S103F NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA. 147 integral to membrane GTCTACGACTCCTCGGAGAAA 0.577000 133 10 0 0 1 0 0 SLC17A2 10246 broad.mit.edu 37 6 25921482 25921482 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr6:25921482G>A uc011dkb.2 - 2 482 c.399C>T c.(397-399)acC>acT p.T133T SLC17A2_uc011dkc.2_Silent_p.T133T|SLC17A2_uc003nfl.3_Silent_p.T133T O00624 NPT3_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA. 133 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GTGTAAAGAGGGTGAGAAGGG 0.463000 91 12 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8587408 8587408 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:8587408C>T uc002mkg.3 - 26 3211 c.3073G>A c.(3073-3075)Ggg>Agg p.G1025R NM_012335 NP_036467 O00160 MYO1F_HUMAN Homo sapiens myosin IF (MYO1F), mRNA. 1025 unconventional myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 GGCCGTTGCCCCACGCTGCGC 0.672000 33 3 0 0 1 0 0 CEACAM7 1087 broad.mit.edu 37 19 42192053 42192053 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:42192053G>A uc002ori.1 - 0 44 c.42C>T c.(40-42)ccC>ccT p.P14P CEACAM7_uc010ehx.2_Silent_p.P14P|CEACAM7_uc010ehy.1_Silent_p.P14P NM_006890 NP_008821 Q14002 CEAM7_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA. 14 anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) GCCCCTGCCAGGGAATGCACA 0.627000 62 4 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 23818466 23818466 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:23818466G>A uc001rfw.3 - 6 945 c.843C>T c.(841-843)ccC>ccT p.P281P SOX5_uc001rfx.3_Silent_p.P268P|SOX5_uc001rfy.3_Silent_p.P268P|SOX5_uc010siv.2_Silent_p.P268P|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Silent_p.P233P NM_006940 NP_694534 P35711 SOX5_HUMAN Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA. 281 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.P281P(2) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 GAGGGAATACGGGAATCATTA 0.512000 217 18 0 0 1 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751407 26751407 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:26751407G>A uc003cdp.3 + 1 833 c.244G>A c.(244-246)Gaa>Aaa p.E82K LRRC3B_uc003cdq.3_Missense_Mutation_p.E82K|LRRC3B_uc021wuj.1_Missense_Mutation_p.E82K NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA. 82 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 TATTCCCAATGAAATTTTTAA 0.408000 60 5 0 0 1 0 0 ALOX15 246 broad.mit.edu 37 17 4535500 4535500 + Silent SNP T C C TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:4535500T>C uc002fyh.3 - 11 1642 c.1617A>G c.(1615-1617)caA>caG p.Q539Q ALOX15_uc010vsd.2_Silent_p.Q500Q|ALOX15_uc010vse.2_Silent_p.Q561Q NM_001140 NP_001131 P16050 LOX15_HUMAN Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA. 539 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) CAGAGGCGTGTTGGCCGGTGC 0.582000 84 5 0 0 1 0 0 ASIC5 51802 broad.mit.edu 37 4 156764950 156764950 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:156764950G>A uc003ipe.1 - 4 791 c.744C>T c.(742-744)ttC>ttT p.F248F NM_017419 NP_059115 Q9NY37 ACCN5_HUMAN Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA. 248 integral to membrane|plasma membrane CAGCATCAACGAAACCAAGGG 0.413000 79 7 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175348711 175348711 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:175348711G>A uc001gkp.1 - 6 2021 c.1940C>T c.(1939-1941)cCa>cTa p.P647L TNR_uc009wwu.1_Missense_Mutation_p.P647L NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 647 Fibronectin type-III 4. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CCTGGTGGTTGGACCAATGCC 0.537000 97 8 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31325318 31325318 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr18:31325318G>A uc010dmg.1 + 11 5561 c.5506G>A c.(5506-5508)Gga>Aga p.G1836R ASXL3_uc002kxq.2_Missense_Mutation_p.G1543R NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1836 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TAGGACTGTAGGAGAACACAC 0.483000 326 39 0 0 1 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150439343 150439343 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:150439343G>A uc022apw.1 + 5 868 c.728G>A c.(727-729)gGg>gAg p.G243E GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.G39E NM_001199577 NP_001186506 Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA. ACAGGCTGCGGGAAAAGTGCC 0.507000 126 6 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174830 150174830 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:150174830G>A uc003whj.3 + 4 2290 c.1960G>A c.(1960-1962)Gaa>Aaa p.E654K NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 654 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GTCCCAAGCCGAAAAACTCCT 0.463000 108 22 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95523926 95523926 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr8:95523926G>A uc003ygo.2 - 12 2948 c.2877C>T c.(2875-2877)gcC>gcT p.A959A KIAA1429_uc003ygp.3_Silent_p.A959A|KIAA1429_uc010maz.2_Non-coding_Transcript NM_015496 NP_056311 Q69YN4 VIR_HUMAN Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA. 959 RNA splicing|mRNA processing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GCTGAATAACGGCAAGATTCC 0.328000 62 4 0 0 1 0 0 OR56A1 120796 broad.mit.edu 37 11 6048614 6048614 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr11:6048614C>T uc010qzw.2 - 0 358 c.321G>A c.(319-321)caG>caA p.Q107Q NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA. 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGATGAACATCTGGAGGAAGC 0.552000 123 6 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75044538 75044538 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr15:75044538C>T uc002ayr.1 + 4 1180 c.1116C>T c.(1114-1116)atC>atT p.I372I NM_000761 NP_000752 P05177 CP1A2_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA. 372 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) AGGCCTTCATCCTGGAGACCT 0.602000 236 21 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55872957 55872957 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr11:55872957G>A uc010riy.2 + 0 439 c.439G>A c.(439-441)Ggg>Agg p.G147R NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA. 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TCTCATCACTGGGCCTTATGT 0.453000 HNSCC(53;0.14) 311 20 0 0 1 0 0 NAALAD2 10003 broad.mit.edu 37 11 89868008 89868009 + Splice_Site DNP GG AA AA TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr11:89868008_89868009GG>AA uc001pdf.4 + 1 191 c.82_splice c.e1+1 p.G28_splice NAALAD2_uc009yvx.3_Splice_Site_p.G28_splice|NAALAD2_uc009yvy.3_Splice_Site_p.G28_splice|NAALAD2_uc001pdd.2_Splice_Site_p.G28_splice|NAALAD2_uc001pde.3_Splice_Site_p.G28_splice NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA. 28 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) ATTTATGGTGGGTAAGTGAACA 0.554000 99 5 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153224030 153224030 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:153224030G>A uc004fjp.3 - 9 2321 c.1793C>T c.(1792-1794)tCg>tTg p.S598L NM_005334 NP_005325 P51610 HCFC1_HUMAN Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA. 598 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CATGACTGGCGAGGAGGCCAC 0.602000 257 27 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20569182 20569182 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:20569182C>T uc003gpr.1 + 27 3096 c.2892C>T c.(2890-2892)aaC>aaT p.N964N SLIT2_uc003gps.1_Silent_p.N956N NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 964 EGF-like 2. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GCATCAGTAACCCATGTAAAC 0.458000 64 5 0 0 1 0 0 SDPR 8436 broad.mit.edu 37 2 192700701 192700701 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:192700701G>A uc002utb.3 - 1 1581 c.1226C>T c.(1225-1227)tCc>tTc p.S409F NM_004657 NP_004648 O95810 SDPR_HUMAN Homo sapiens serum deprivation response (SDPR), mRNA. 409 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GTCCCCATCGGAGCGCTCCGC 0.627000 97 14 0 0 1 0 0 OR5B21 219968 broad.mit.edu 37 11 58275399 58275399 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr11:58275399G>A uc010rki.2 - 0 180 c.180C>T c.(178-180)ttC>ttT p.F60F NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA. 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) GGTTACTGAGGAAAAAGTACA 0.502000 96 7 0 0 1 0 0 MAPKAPK3 7867 broad.mit.edu 37 3 50683641 50683641 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:50683641C>T uc003day.2 + 9 1417 c.775C>T c.(775-777)Cgc>Tgc p.R259C MAPKAPK3_uc003daz.2_Missense_Mutation_p.R259C|MAPKAPK3_uc003dba.2_Missense_Mutation_p.R259C|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.R259C NM_001243926 NP_001230855 Q16644 MAPK3_HUMAN Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA. 259 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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 serine/threonine kinase activity central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) GAGGAGGATTCGCCTGGGCCA 0.602000 258 11 0 0 1 0 0 USP43 124739 broad.mit.edu 37 17 9631487 9631487 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:9631487C>T uc010cod.3 + 14 2552 c.2552C>T c.(2551-2553)tCg>tTg p.S851L USP43_uc002gma.4_Missense_Mutation_p.S540L|USP43_uc010vva.2_Missense_Mutation_p.S846L|USP43_uc010coe.3_Missense_Mutation_p.S648L|USP43_uc002gmc.4_Missense_Mutation_p.S363L NM_153210 NP_694942 Q70EL4 UBP43_HUMAN Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA. 851 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 TCCATTGTGTCGCTGTTGACG 0.582000 39 10 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7574331 7574331 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr6:7574331G>A uc003mxp.1 + 15 2422 c.2143G>A c.(2143-2145)Gat>Aat p.D715N DSP_uc003mxq.1_Missense_Mutation_p.D715N|DSP_uc021yle.1_Missense_Mutation_p.D715N NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 715 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGTGCAGAATGATTCACAAGC 0.333000 65 4 0 0 1 0 0 GSG1L 146395 broad.mit.edu 37 16 27895832 27895832 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr16:27895832G>A uc002doz.2 - 2 610 c.525C>T c.(523-525)ttC>ttT p.F175F GSG1L_uc010bya.1_Intron|GSG1L_uc010bxz.1_Silent_p.F20F|GSG1L_uc002doy.2_Silent_p.F20F NM_001109763 NP_653276 Q6UXU4 GSG1L_HUMAN Homo sapiens GSG1-like (GSG1L), transcript variant 1, mRNA. 175 integral to membrane endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4) 17 AGACAGCCGCGAAGGCATTGA 0.577000 28 7 0 0 1 0 0 RDH12 145226 broad.mit.edu 37 14 68191190 68191190 + Splice_Site SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr14:68191190G>A uc001xjz.4 + 4 393 c.69_splice c.e4-1 p.R23_splice NM_152443 NP_689656 Q96NR8 RDH12_HUMAN Homo sapiens retinol dehydrogenase 12 (all-trans/9-cis/11-cis) (RDH12), mRNA. 23 photoreceptor cell maintenance|response to stimulus|retinol metabolic process intracellular binding|retinol dehydrogenase activity large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4) 12 all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953) Vitamin A(DB00162) TTGCCGATAGGAAGTTCTTTG 0.468000 168 9 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8665694 8665694 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:8665694C>T uc002wnb.3 + 9 981 c.978C>T c.(976-978)ttC>ttT p.F326F PLCB1_uc010zrb.1_Silent_p.F225F|PLCB1_uc002wna.3_Silent_p.F326F|PLCB1_uc002wnc.1_Silent_p.F225F NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 326 PI-PLC X-box. CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity p.Y325F(1) NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CTCACTATTTCATTAATTCCT 0.413000 186 36 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76937319 76937319 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:76937319C>T uc004ecp.4 - 8 3661 c.3429G>A c.(3427-3429)aaG>aaA p.K1143K ATRX_uc004ecq.4_Silent_p.K1105K|ATRX_uc004eco.4_Silent_p.K928K|ATRX_uc004ecr.2_Silent_p.K1075K|ATRX_uc010nlx.1_Silent_p.K1114K|ATRX_uc010nly.1_Silent_p.K1088K NM_000489 NP_000480 P46100 ATRX_HUMAN Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. 1143 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TAGTATTTCTCTTTGAACTTA 0.318000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 117 9 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A G G rs2257765 TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr10:38654432A>G uc010qex.1 + 4 599 c.524A>G c.(523-525)aAt>aGt p.N175S HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA. TCATCTCGCAATGCAAGGAAA 0.453000 55 4 0 0 1 0 0 FTX 100302692 broad.mit.edu 37 X 73251430 73251430 + Splice_Site SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:73251430C>T uc010nlq.1 - 6 c.940_splice c.e6+1 JPX_uc004ebp.3_Intron Homo sapiens FTX transcript, XIST regulator (non-protein coding) (FTX), non-coding RNA. AACCAACTTACCATTGCTCTG 0.527000 71 9 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183664489 183664489 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:183664489C>T uc003ivd.1 + 17 3621 c.3546C>T c.(3544-3546)atC>atT p.I1182I ODZ3_uc003ive.1_Silent_p.I588I NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1182 signal transduction integral to membrane p.G1181V(2) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CTTGTGGGATCGATGGCAGTC 0.498000 92 9 0 0 1 0 0 CLDN11 5010 broad.mit.edu 37 3 170140979 170140979 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:170140979G>A uc003fgx.3 + 1 457 c.255G>A c.(253-255)atG>atA p.M85I CLDN11_uc011bpt.1_Missense_Mutation_p.M85I|CLDN11_uc003fgy.3_Missense_Mutation_p.M1I NM_005602 NP_001171985 O75508 CLD11_HUMAN Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA. 85 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2) 12 all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) GCGCCCTGATGATTGCTGCCT 0.607000 289 17 0 0 1 0 0 DDX17 10521 broad.mit.edu 37 22 38894457 38894457 + Silent SNP C T T rs148438451 TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr22:38894457C>T uc003avy.4 - 3 763 c.660G>A c.(658-660)ggG>ggA p.G220G DDX17_uc003avx.4_Silent_p.G220G|DDX17_uc011anu.2_Silent_p.G133G NM_001098504 NP_001091974 Q92841 DDX17_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA. 141 Helicase ATP-binding. RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) CCAACGTCTTCCCAGAGCCAG 0.458000 122 14 0 0 1 0 0 RECQL4 9401 broad.mit.edu 37 8 145736915 145736915 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr8:145736915C>T uc003zdj.3 - 21 3568 c.3526G>A c.(3526-3528)Gtg>Atg p.V1176M NM_004260 NP_004251 O94761 RECQ4_HUMAN Homo sapiens RecQ protein-like 4 (RECQL4), mRNA. 1176 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TGCCCGTACACCTGGGCCGGG 0.682000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 48 4 0 0 1 0 0 LRRC8C 84230 broad.mit.edu 37 1 90178512 90178512 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:90178512C>T uc001dnl.4 + 2 625 c.383C>T c.(382-384)cCt>cTt p.P128L NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA. 128 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) AAGTATTTCCCTTACCTTGTC 0.428000 142 12 0 0 1 0 0 NUDT15 55270 broad.mit.edu 37 13 48619797 48619797 + Splice_Site SNP T C C TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr13:48619797T>C uc001vbw.1 + 3 536 c.356_splice c.e3-1 p.S119_splice NM_018283 NP_060753 Q9NV35 NUD15_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 15 (NUDT15), mRNA. 119 Interaction with PCNA.|Nudix hydrolase. hydrolase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(1) 7 all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;4.83e-07) CTTTTCTAGGTTGGGAGTGGG 0.358000 84 10 0 0 1 0 0 RPS27 6232 broad.mit.edu 37 1 153963239 153963239 + Splice_Site SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:153963239C>T uc001fdv.3 + 1 1 c.-33_splice c.e1-1 NM_001030 NP_001021 P42677 RS27_HUMAN Homo sapiens ribosomal protein S27 (RPS27), mRNA. cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus DNA binding|structural constituent of ribosome|zinc ion binding kidney(1) 1 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCTTTCGCTCCTTTCCGGCGG 0.537000 106 14 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158815707 158815707 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:158815707G>A uc001fsz.1 + 4 1101 c.901G>A c.(901-903)Gaa>Aaa p.E301K NM_002432 NP_002423 P41218 MNDA_HUMAN Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA. 301 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) CAGAATTATCGAAATAGCAAA 0.338000 66 7 0 0 1 0 0 ZNF716 441234 broad.mit.edu 37 7 57529114 57529114 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:57529114G>A uc011kdi.1 + 3 1059 c.947G>A c.(946-948)aGa>aAa p.R316K NM_001159279 NP_001152751 Homo sapiens zinc finger protein 716 (ZNF716), mRNA. breast(1)|kidney(1)|lung(20)|ovary(2) 24 AACCACAAGAGAATTCATACT 0.408000 44 10 0 0 1 0 0 GPR151 134391 broad.mit.edu 37 5 145894722 145894722 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:145894722C>T uc003lod.1 - 0 955 c.955G>A c.(955-957)Ggt>Agt p.G319S NM_194251 NP_919227 Q8TDV0 GP151_HUMAN Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA. 319 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2) 14 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCCATACACCTTTCAAGCCT 0.448000 56 5 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10428104 10428104 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:10428104C>T uc010coi.3 - 33 5069 c.4941G>A c.(4939-4941)agG>agA p.R1647R AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.R1647R|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1647 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TCCTGTAGTTCCTCAGGGCCT 0.502000 213 27 0 0 1 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228829 57228829 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr8:57228829C>T uc010lyk.1 - 1 716 c.78G>A c.(76-78)atG>atA p.M26I SDR16C5_uc003xsy.1_Missense_Mutation_p.M26I|SDR16C5_uc010lyl.1_Missense_Mutation_p.M26I NM_138969 NP_620419 Q8N3Y7 RDHE2_HUMAN Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA. 26 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 AGGCAAAAATCATAGCCTCCA 0.448000 84 10 0 0 1 0 0 AFAP1 60312 broad.mit.edu 37 4 7844984 7844984 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:7844984G>A uc011bwk.1 - 4 701 c.428C>T c.(427-429)tCc>tTc p.S143F AFAP1_uc003gkg.1_Missense_Mutation_p.S143F NM_001134647 NP_001128119 Q8N556 AFAP1_HUMAN Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA. 143 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 GGCCTCCTCGGAGGGCCACTG 0.557000 82 5 0 0 1 0 0 RFPL3 10738 broad.mit.edu 37 22 32756547 32756547 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr22:32756547G>A uc003amj.3 + 1 887 c.682G>A c.(682-684)Gcc>Acc p.A228T RFPL3_uc010gwn.3_Missense_Mutation_p.A199T|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript NM_001098535 NP_006595 O75679 RFPL3_HUMAN Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA. 228 B30.2/SPRY. zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 CCGCCTCTCTGCCAGCACGGT 0.517000 154 24 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56423969 56423969 + Missense_Mutation SNP A G G TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:56423969A>G uc010ygg.2 - 4 1239 c.1214T>C c.(1213-1215)gTt>gCt p.V405A NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 405 NACHT. ATP binding p.E404D(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GATTTTCTCAACTTCACTTGA 0.458000 115 13 0 0 1 0 0 CD97 976 broad.mit.edu 37 19 14513596 14513596 + Silent SNP A G G TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:14513596A>G uc002myl.3 + 11 1751 c.1371A>G c.(1369-1371)gaA>gaG p.E457E CD97_uc002mym.3_Silent_p.E408E|CD97_uc002myn.3_Silent_p.E364E NM_078481 NP_510966 P48960 CD97_HUMAN Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA. 457 cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 ACACCAAGGAACTCAACTCCC 0.557000 129 17 0 0 1 0 0 ST6GALNAC4 27090 broad.mit.edu 37 9 130678772 130678772 + Splice_Site SNP A C C TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr9:130678772A>C uc004bss.3 - 2 202 c.-74_splice c.e2-1 ST6GALNAC4_uc004bst.3_Intron NM_175039 NP_778205 Q9H4F1 SIA7D_HUMAN Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA. glycolipid metabolic process|protein glycosylation integral to Golgi membrane|nucleus|soluble fraction (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 GGAGCCGGGCACCTGCCAAGA 0.617000 46 12 0 0 1 0 0 FBXO43 286151 broad.mit.edu 37 8 101153451 101153451 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr8:101153451G>A uc003yjd.3 - 1 1767 c.1031C>T c.(1030-1032)tCa>tTa p.S344L FBXO43_uc003yje.3_Missense_Mutation_p.S310L|FBXO43_uc010mbp.2_Missense_Mutation_p.S344L NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA. 344 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) GGAATCTTCTGATTTCTCCAA 0.428000 116 16 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67786656 67786656 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr15:67786656C>T uc002aqo.2 + 19 3019 c.2922C>T c.(2920-2922)atC>atT p.I974I IQCH_uc002aqp.2_Missense_Mutation_p.P615S|IQCH_uc002aqq.2_Silent_p.I631I|LOC100506686_uc002aqr.2_Intron|LOC100506686_uc021spf.1_Intron NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA. 974 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) TCTTCATCATCCATCAAGAAA 0.408000 35 6 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11216168 11216168 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:11216168C>T uc002mqk.4 + 3 773 c.586C>T c.(586-588)Ccc>Tcc p.P196S LDLR_uc010xlk.2_Missense_Mutation_p.P196S|LDLR_uc010xll.2_Missense_Mutation_p.P155S|LDLR_uc021upc.1_Missense_Mutation_p.P75S|LDLR_uc010xln.2_Intron|LDLR_uc010xlo.2_Intron|LDLR_uc010xlm.2_Missense_Mutation_p.P49S|LDLR_uc021upd.1_5'UTR NM_000527 NP_000518 P01130 LDLR_HUMAN Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA. 196 LDL-receptor class A 5. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) GGACAGTAGCCCCTGCTCGGC 0.622000 86 11 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157414169 157414169 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:157414169G>A uc003wno.3 - 14 2350 c.2229C>T c.(2227-2229)aaC>aaT p.N743N PTPRN2_uc003wnp.3_Silent_p.N726N|PTPRN2_uc003wnq.3_Silent_p.N714N|PTPRN2_uc003wnr.3_Silent_p.N705N|PTPRN2_uc011kwa.2_Silent_p.N766N NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 743 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TCTCCAGCCGGTTCTTGTTCT 0.612000 396 72 0 0 1 0 0 PRIC285 85441 broad.mit.edu 37 20 62191389 62191389 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:62191389C>T uc002yfm.2 - 18 8609 c.7717G>A c.(7717-7719)Gac>Aac p.D2573N PRIC285_uc002yfl.1_Missense_Mutation_p.D2004N NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA. 2573 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2) 47 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) GGCCGCTGGTCCAGGTCGCTC 0.662000 45 5 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25792133 25792133 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:25792133C>T uc003gru.4 - 11 2172 c.2020G>A c.(2020-2022)Gga>Aga p.G674R SEL1L3_uc003grv.3_Missense_Mutation_p.G81R NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA. 674 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 AAGACATCTCCATCTTCTTTG 0.438000 119 8 0 0 1 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891840 2891840 + Missense_Mutation SNP A G G TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr18:2891840A>G uc002kln.3 + 3 1874 c.1715A>G c.(1714-1716)gAa>gGa p.E572G NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA. 572 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) CCAAACAGGGAAGACCGCGCA 0.478000 91 10 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48063588 48063588 + Missense_Mutation SNP A G G TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr15:48063588A>G uc010bek.3 + 18 3188 c.2828A>G c.(2827-2829)aAg>aGg p.K943R SEMA6D_uc001zvw.3_Missense_Mutation_p.K881R|SEMA6D_uc001zvy.3_Missense_Mutation_p.K943R|SEMA6D_uc001zvz.3_Missense_Mutation_p.K887R|SEMA6D_uc001zwa.3_3'UTR|SEMA6D_uc001zwb.3_Missense_Mutation_p.K881R|SEMA6D_uc001zwc.3_Missense_Mutation_p.K868R NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA. 943 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) AGCCCAACCAAGCGAGTGGAT 0.517000 224 12 0 0 1 0 0 MC2R 4158 broad.mit.edu 37 18 13885041 13885041 + Silent SNP C T T rs141290578 TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr18:13885041C>T uc002ksp.1 - 1 654 c.477G>A c.(475-477)acG>acA p.T159T MC2R_uc021uhs.1_Silent_p.T159T NM_000529 NP_000520 Q01718 ACTHR_HUMAN Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA. 159 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) TGCCAGTCCCCGTGCAGAACG 0.582000 108 10 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13753398 13753398 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:13753398G>A uc003jfd.2 - 62 10858 c.10816C>T c.(10816-10818)Cca>Tca p.P3606S DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3606 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity 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) TGAGTCTGTGGATCAATTAAC 0.363000 Kartagener syndrome 90 6 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179584752 179584752 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:179584752C>T uc021vsy.1 - 77 20110 c.19885G>A c.(19885-19887)Gat>Aat p.D6629N TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D3290N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7556 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTCCAGCATCGTTTTTGATT 0.383000 30 5 0 0 1 0 0 SAMD15 161394 broad.mit.edu 37 14 77844855 77844855 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr14:77844855G>A uc001xtq.1 + 0 1094 c.1094G>A c.(1093-1095)aGa>aAa p.R365K TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Missense_Mutation_p.R365K NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA. 365 breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GAAGAGATAAGAAAGTCAAAT 0.378000 87 8 0 0 1 0 0 ADCK4 79934 broad.mit.edu 37 19 41206032 41206032 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:41206032G>A uc002oor.2 - 11 1385 c.1083C>T c.(1081-1083)ttC>ttT p.F361F ADCK4_uc002oop.1_Silent_p.F38F|ADCK4_uc002ooq.2_Silent_p.F320F NM_024876 NP_079152 Q96D53 ADCK4_HUMAN Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA. 361 Protein kinase. integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) GCATGAATCGGAACTCAAACA 0.532000 82 5 0 0 1 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38187031 38187031 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr8:38187031G>A uc003xli.3 - 5 1964 c.1446C>T c.(1444-1446)tcC>tcT p.S482S WHSC1L1_uc011lbm.2_Silent_p.S482S|WHSC1L1_uc010lwe.3_Silent_p.S482S|WHSC1L1_uc003xlj.3_Silent_p.S482S NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA. 482 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding p.S482P(1) NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) GCATCGTAATGGAAGCTGGTA 0.488000 T NUP98 AML 147 12 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10310224 10310224 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:10310224C>T uc002gmm.2 - 17 2133 c.2038G>A c.(2038-2040)Gaa>Aaa p.E680K AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 680 Actin-binding.|Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GTTTTGGTTTCATTGGGAATG 0.378000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 61 7 0 0 1 0 0 HS3ST2 9956 broad.mit.edu 37 16 22926530 22926530 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr16:22926530G>A uc002dli.3 + 1 823 c.751G>A c.(751-753)Ggc>Agc p.G251S NM_006043 NP_006034 Q9Y278 HS3S2_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA. 251 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) CATCCGCATCGGCATGTACGT 0.622000 170 23 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10106908 10106908 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:10106908C>T uc002mmq.1 - 13 1539 c.1453G>A c.(1453-1455)Ggg>Agg p.G485R NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 485 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CCAGTGAGCCCCACTGGACCA 0.597000 69 7 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123452616 123452616 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:123452616C>T uc003ego.3 - 9 1509 c.1227G>A c.(1225-1227)agG>agA p.R409R MYLK_uc011bjw.2_Silent_p.R409R|MYLK_uc003egp.3_Silent_p.R409R|MYLK_uc003egq.3_Silent_p.R409R|MYLK_uc003egr.3_Silent_p.R409R|MYLK_uc003egs.3_Silent_p.R233R NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 409 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ATGCTGAATCCCTCTGGCCCT 0.542000 159 8 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111430568 111430568 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:111430568G>A uc003vfy.3 - 31 3637 c.3368C>T c.(3367-3369)cCa>cTa p.P1123L DOCK4_uc011kmm.2_5'Flank|DOCK4_uc003vfw.3_Missense_Mutation_p.P528L|DOCK4_uc003vfx.3_Missense_Mutation_p.P1087L NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA. 1087 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding 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) ATGAAAAATTGGAATCATGAC 0.473000 59 4 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140768801 140768801 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:140768801C>T uc003lkc.2 + 0 1350 c.1350C>T c.(1348-1350)ttC>ttT p.F450F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR NM_003736 NP_003727 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA. 454 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCGGTTTTCTCACAGTCTT 0.547000 230 14 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20453564 20453564 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:20453564C>T uc002wrz.3 - 36 5547 c.5404G>A c.(5404-5406)Gtg>Atg p.V1802M RALGAPA2_uc002wry.3_Missense_Mutation_p.V1417M|RALGAPA2_uc010zsg.2_Missense_Mutation_p.V1250M|RALGAPA2_uc002wsa.1_Missense_Mutation_p.V574M NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA. 1802 Rap-GAP. activation of Ral GTPase activity cytosol|nucleus Ral GTPase activator activity|protein heterodimerization activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 TTCCCACTCACTATGGCTCCA 0.428000 65 6 0 0 1 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51955776 51955776 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:51955776G>A uc002pwt.3 - 6 1424 c.1357C>T c.(1357-1359)Cat>Tat p.H453Y SIGLEC8_uc010yda.2_Missense_Mutation_p.H344Y|SIGLEC8_uc002pwu.3_Intron|SIGLEC8_uc010eox.2_Missense_Mutation_p.H360Y NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA. 453 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TTCACTTTATGGAAGCTGAGG 0.562000 128 8 0 0 1 0 0 P4HA2 8974 broad.mit.edu 37 5 131546056 131546056 + Silent SNP C A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:131546056C>A uc003kwh.3 - 5 1194 c.630G>T c.(628-630)ctG>ctT p.L210L P4HA2_uc003kwg.3_Silent_p.L210L|P4HA2_uc003kwi.3_Silent_p.L210L|P4HA2_uc003kwk.3_Silent_p.L210L|P4HA2_uc003kwl.3_Silent_p.L210L|P4HA2_uc003kwj.3_Silent_p.L210L NM_004199 NP_004190 O15460 P4HA2_HUMAN Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA. 210 endoplasmic reticulum lumen L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) TGAGGTAGTCCAGCACCTGTG 0.562000 224 27 9.80776e-20 9.95042e-20 1 1 0 CHMP6 79643 broad.mit.edu 37 17 78971075 78971075 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:78971075C>T uc002jyw.4 + 5 507 c.429C>T c.(427-429)ctC>ctT p.L143L NM_024591 NP_078867 Q96FZ7 CHMP6_HUMAN Homo sapiens charged multivesicular body protein 6 (CHMP6), mRNA. 143 cellular membrane organization|endosome transport|protein transport cytosol|endomembrane system|late endosome membrane protein N-terminus binding lung(2)|ovary(1) 3 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) TAGACGAGCTCCTGGCAGGAA 0.622000 48 12 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3228032 3228032 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:3228032C>T uc004crg.4 - 6 8369 c.8212G>A c.(8212-8214)Gag>Aag p.E2738K NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2738 Ig-like C2-type 12. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGGGTGGGCTCGCTGGTGATC 0.592000 100 6 0 0 1 0 0 NUP62 23636 broad.mit.edu 37 19 50412412 50412412 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:50412412C>T uc002prb.3 - 1 897 c.653G>A c.(652-654)gGg>gAg p.G218E IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Missense_Mutation_p.G218E|NUP62_uc002pqy.3_Missense_Mutation_p.G218E|NUP62_uc002pra.3_Missense_Mutation_p.G218E|NUP62_uc002pqz.3_Missense_Mutation_p.G218E|NUP62_uc002prc.3_Missense_Mutation_p.G218E|NUP62_uc021uya.1_Missense_Mutation_p.G218E NM_012346 NP_714941 P37198 NUP62_HUMAN Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA. 218 15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2) 19 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GAGGCTGGGCCCAGTGCTGGT 0.647000 153 6 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87645093 87645093 + Nonsense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr8:87645093G>A uc003ydx.3 - 10 1255 c.1207C>T c.(1207-1209)Cga>Tga p.R403* CNGB3_uc010maj.3_Nonsense_Mutation_p.R265* NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 403 R -> Q (in macular degeneration). signal transduction|visual perception integral to membrane cGMP binding p.R403P(1)|p.R403L(1) NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 ATTAAAGTTCGAACTGCCCAA 0.328000 33 4 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153077667 153077667 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:153077667G>A uc011dcy.2 + 8 1255 c.1228G>A c.(1228-1230)Gat>Aat p.D410N GRIA1_uc003lva.4_Missense_Mutation_p.D400N|GRIA1_uc003luy.4_Missense_Mutation_p.D400N|GRIA1_uc003luz.4_Missense_Mutation_p.D305N|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.D320N|GRIA1_uc011dcx.2_Missense_Mutation_p.D331N|GRIA1_uc011dcz.2_Missense_Mutation_p.D410N|GRIA1_uc010jia.1_Missense_Mutation_p.D380N NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 400 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGCTGGGGGCGATAATTCAAG 0.478000 79 8 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7703888 7703888 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr16:7703888C>T uc002cys.2 + 11 1817 c.829C>T c.(829-831)Cgc>Tgc p.R277C RBFOX1_uc010buf.1_Missense_Mutation_p.R277C|RBFOX1_uc002cyr.1_Missense_Mutation_p.R276C|RBFOX1_uc002cyt.2_Missense_Mutation_p.R250C|RBFOX1_uc010uxz.1_Missense_Mutation_p.R320C|RBFOX1_uc010uya.1_Missense_Mutation_p.R234C|RBFOX1_uc002cyv.1_Missense_Mutation_p.R277C|RBFOX1_uc010uyb.1_Missense_Mutation_p.R277C|RBFOX1_uc002cyw.2_Missense_Mutation_p.R297C|RBFOX1_uc002cyy.2_Missense_Mutation_p.R297C|RBFOX1_uc002cyx.2_Missense_Mutation_p.R297C|RBFOX1_uc010uyc.1_Missense_Mutation_p.R270C NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA. 277 RNA splicing|RNA transport|mRNA processing nucleus|trans-Golgi network RNA binding|nucleotide binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 AGGCCGCGGTCGCACCGTGTA 0.731000 35 5 0 0 1 0 0 PTCHD1 139411 broad.mit.edu 37 X 23411377 23411377 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:23411377G>A uc004dal.4 + 2 1750 c.1742G>A c.(1741-1743)gGg>gAg p.G581E NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN Homo sapiens patched domain containing 1 (PTCHD1), mRNA. 581 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 TACACCAAGGGGTTTGTGCGG 0.393000 182 21 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559218 129559218 + Nonsense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:129559218C>T uc009zyl.1 - 8 2830 c.2502G>A c.(2500-2502)tgG>tgA p.W834* TMEM132D_uc001uia.2_Nonsense_Mutation_p.W372* NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 834 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CCTGACTCCCCCATTCCTGCG 0.542000 102 6 0 0 1 0 0 OR2T1 26696 broad.mit.edu 37 1 248569658 248569658 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:248569658G>A uc010pzm.2 + 0 363 c.363G>A c.(361-363)atG>atA p.M121I NM_030904 NP_112166 O43869 OR2T1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA. 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TAATTGACATGATGTATATTT 0.453000 223 9 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130343185 130343185 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr11:130343185C>T uc010scd.2 + 7 2322 c.2322C>T c.(2320-2322)ccC>ccT p.P774P NM_139055 NP_620686 Q8TE58 ATS15_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA. 774 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) CTTCCCGGCCCATCCTGGAGC 0.677000 124 13 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36755340 36755340 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:36755340G>A uc001cae.4 + 4 1944 c.1720G>A c.(1720-1722)Gac>Aac p.D574N THRAP3_uc001caf.4_Missense_Mutation_p.D574N|THRAP3_uc001cag.1_Missense_Mutation_p.D574N NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA. 574 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGTCCGGATGGACTCTTTTGA 0.527000 T USP6 aneurysmal bone cysts 108 11 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72184716 72184716 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr16:72184716C>T uc002fcc.4 - 4 599 c.427G>A c.(427-429)Gag>Aag p.E143K PMFBP1_uc002fcd.3_Missense_Mutation_p.E143K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_5'UTR NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 143 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) ATTTCCTCCTCATAGAGAATC 0.507000 117 8 0 0 1 0 0 AGFG2 3268 broad.mit.edu 37 7 100162603 100162603 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:100162603C>T uc003uvf.3 + 11 1571 c.1435C>T c.(1435-1437)Ccc>Tcc p.P479S NM_006076 NP_006067 O95081 AGFG2_HUMAN Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA. 479 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 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 AACCACCAACCCCTTCTTGTA 0.537000 363 26 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125547543 125547543 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:125547543G>A uc010flu.3 + 17 3181 c.2817G>A c.(2815-2817)caG>caA p.Q939Q CNTNAP5_uc002tno.3_Silent_p.Q938Q NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 938 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding p.Q938Q(2) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TGAATGGACAGAAAATGGACC 0.522000 85 13 0 0 1 0 0 DGKG 1608 broad.mit.edu 37 3 185975716 185975716 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:185975716G>A uc003fqa.3 - 16 1974 c.1437C>T c.(1435-1437)ttC>ttT p.F479F DGKG_uc003fqb.3_Silent_p.F440F|DGKG_uc003fqc.3_Silent_p.F454F|DGKG_uc011brx.2_Silent_p.F420F NM_001346 NP_001337 P49619 DGKG_HUMAN Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA. 479 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) GAGTATCACGGAAAAAGTTCA 0.493000 67 7 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027232 37027232 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:37027232C>T uc004ddl.2 + 0 801 c.749C>T c.(748-750)cCt>cTt p.P250L NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 250 p.E249Q(1) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CGCCCAGAGCCTCCCAAGACT 0.617000 179 21 0 0 1 0 0 BPIFB3 359710 broad.mit.edu 37 20 31652327 31652327 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:31652327C>T uc002wym.1 + 6 717 c.717C>T c.(715-717)tcC>tcT p.S239S NM_182658 NP_872599 P59826 LPLC3_HUMAN Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA. 239 innate immune response cytoplasm|extracellular region lipid binding|protein binding CTCTCATCTCCAACCAGTACA 0.582000 64 13 0 0 1 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004218 75004218 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:75004218C>T uc004ecj.2 - 0 862 c.669G>A c.(667-669)agG>agA p.R223R NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA. 223 MAGE 1. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TGAGGAGGTTCCTTGTGTTCC 0.493000 140 9 0 0 1 0 0 OR2T10 127069 broad.mit.edu 37 1 248756679 248756679 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:248756679G>A uc010pzn.2 - 0 391 c.391C>T c.(391-393)Cgt>Tgt p.R131C NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA. 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACAGAGTAACGGAGAGGATGG 0.562000 85 6 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209800877 209800877 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:209800877C>T uc001hhg.3 - 10 1726 c.1336G>A c.(1336-1338)Gag>Aag p.E446K LAMB3_uc009xco.3_Missense_Mutation_p.E446K|LAMB3_uc001hhh.3_Missense_Mutation_p.E446K|LAMB3_uc010psl.1_Non-coding_Transcript NM_001017402 NP_001121113 Q13751 LAMB3_HUMAN Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA. 446 Laminin EGF-like 4. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CCACTCTCCTCGTCACACGGC 0.617000 OREG0014217 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 115 8 0 0 1 0 0 LINC00264 645528 broad.mit.edu 37 10 26880320 26880320 + RNA SNP A G G TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr10:26880320A>G uc001ist.3 + 1 c.555A>G Homo sapiens long intergenic non-protein coding RNA 264 (LINC00264), non-coding RNA. GAAAAGGCCCAAACACATGCT 0.512000 48 3 0 0 1 0 0 OR2J3 442186 broad.mit.edu 37 6 29080253 29080253 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr6:29080253C>T uc011dll.2 + 0 586 c.586C>T c.(586-588)Cat>Tat p.H196Y NM_001005216 NP_001005216 O76001 OR2J3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA. 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 TGTTGATACCCATGTCAATGA 0.463000 125 15 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77400934 77400934 + Silent SNP G A A rs149732972 TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr9:77400934G>A uc004ajl.1 - 20 3013 c.2775C>T c.(2773-2775)ttC>ttT p.F925F TRPM6_uc004ajk.1_Silent_p.F920F|TRPM6_uc022bib.1_Silent_p.F920F|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 925 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 ATCGAAGGACGAAGCCAGCTG 0.478000 175 27 0 0 1 0 0 ATPAF2 91647 broad.mit.edu 37 17 17924547 17924547 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:17924547C>T uc002gse.1 - 6 775 c.622G>A c.(622-624)Gag>Aag p.E208K ATPAF2_uc002gsd.1_Non-coding_Transcript NM_145691 NP_663729 Q8N5M1 ATPF2_HUMAN Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 2 (ATPAF2), nuclear gene encoding mitochondrial protein, mRNA. 208 proton-transporting ATP synthase complex assembly mitochondrion|nuclear speck protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 8 all_neural(463;0.228) GCTACAAACTCAATCCCTGCA 0.587000 24 4 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113940658 113940658 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:113940658G>A uc002tjc.3 + 1 808 c.625G>A c.(625-627)Gaa>Aaa p.E209K PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.E208K|PSD4_uc002tjf.3_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA. 209 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACCTGAGAATGAAGACTCAGG 0.642000 75 7 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121554972 121554972 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:121554972C>T uc010flp.3 + 0 106 c.76C>T c.(76-78)Ccc>Tcc p.P26S GLI2_uc010yyu.1_Missense_Mutation_p.P26S|GLI2_uc002tmp.1_Missense_Mutation_p.P26S|GLI2_uc010fln.1_Non-coding_Transcript|GLI2_uc002tmq.1_5'UTR|GLI2_uc002tmr.1_5'UTR|GLI2_uc002tmt.4_5'UTR|GLI2_uc002tmu.4_5'UTR|GLI2_uc002tmv.1_Missense_Mutation_p.P26S|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Missense_Mutation_p.P26S NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 26 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CGCTGGCTTCCCCGACCCGGG 0.617000 233 25 0 0 1 0 0 MLL 4297 broad.mit.edu 37 11 118365449 118365449 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr11:118365449C>T uc001pta.3 + 17 5344 c.5321C>T c.(5320-5322)tCc>tTc p.S1774F MLL_uc001ptb.3_Missense_Mutation_p.S1777F NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 1774 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GTCAAAAAGTCCAGGTTTTGG 0.328000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 33 4 0 0 1 0 0 CDK16 5127 broad.mit.edu 37 X 47082953 47082953 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:47082953C>T uc011mli.2 + 1 539 c.15C>T c.(13-15)atC>atT p.I5I CDK16_uc011mlj.2_5'UTR|CDK16_uc004dho.3_5'UTR|CDK16_uc011mlk.2_5'UTR|CDK16_uc011mll.2_Silent_p.I73I NM_033018 NP_006192 Q00536 CDK16_HUMAN Homo sapiens cyclin-dependent kinase 16 (CDK16), transcript variant 2, mRNA. 0 ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(3) 11 TTGCTCAGATCGCCATGGATC 0.532000 40 4 0 0 1 0 0 C1orf63 57035 broad.mit.edu 37 1 25572954 25572954 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:25572954G>A uc001bjw.3 - 1 753 c.501C>T c.(499-501)ccC>ccT p.P167P C1orf63_uc021oji.1_Non-coding_Transcript|C1orf63_uc021ojj.1_Non-coding_Transcript NM_020317 NP_064713 Q9BUV0 CA063_HUMAN Homo sapiens chromosome 1 open reading frame 63 (C1orf63), mRNA. 167 Arg-rich. p.P167L(1) breast(1)|large_intestine(1)|lung(4)|pancreas(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TTAAGCGAAAGGGGGTTCTGC 0.547000 194 14 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23532226 23532226 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr14:23532226G>A uc001wit.4 - 13 3297 c.2969C>T c.(2968-2970)tCc>tTc p.S990F ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Missense_Mutation_p.S232F|ACIN1_uc001wiq.4_Missense_Mutation_p.S232F|ACIN1_uc001wir.4_Missense_Mutation_p.S263F|ACIN1_uc001wis.4_Missense_Mutation_p.S671F|ACIN1_uc010akg.3_Missense_Mutation_p.S977F|ACIN1_uc010tnj.2_Missense_Mutation_p.S950F NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA. 990 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) AATGGTAATGGAAACTCCGGA 0.473000 207 9 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126402785 126402785 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:126402785C>T uc003ifj.4 + 14 12708 c.12708C>T c.(12706-12708)gcC>gcT p.A4236A FAT4_uc011cgp.2_Silent_p.A2477A|FAT4_uc003ifi.1_Silent_p.A1714A NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 4236 Laminin G-like 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TACGAGGTGCCATGTTGGAGC 0.438000 113 6 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10304406 10304406 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:10304406C>T uc002gmm.2 - 24 3306 c.3211G>A c.(3211-3213)Gat>Aat p.D1071N AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1071 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TTTTCCATATCCATTGTGGAT 0.388000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 111 6 0 0 1 0 0 SHC1 6464 broad.mit.edu 37 1 154938691 154938691 + Missense_Mutation SNP A G G TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:154938691A>G uc001ffv.3 - 8 1420 c.1199T>C c.(1198-1200)gTt>gCt p.V400A SHC1_uc001ffw.3_Missense_Mutation_p.V400A|SHC1_uc001ffx.3_Missense_Mutation_p.V290A|SHC1_uc001ffy.3_Missense_Mutation_p.V290A|SHC1_uc001ffz.1_Missense_Mutation_p.V171A NM_183001 NP_001189788 P29353 SHC1_HUMAN Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA. 400 CH1. Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth Shc-EGFR complex|cytosol|mitochondrial matrix epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity p.L400L(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) ATCTCCCCCAACAGGCTGTCC 0.582000 38 4 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152191731 152191731 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:152191731C>T uc001ezt.1 - 2 2450 c.2374G>A c.(2374-2376)Ggc>Agc p.G792S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 792 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCGTGTTGGCCGTGGCTGGAG 0.602000 129 11 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121203990 121203990 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:121203990G>A uc003eee.4 - 16 5800 c.5671C>T c.(5671-5673)Ccc>Tcc p.P1891S POLQ_uc003eed.3_Missense_Mutation_p.P1063S NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 1891 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CCTTTAATGGGAAATCCATCA 0.373000 DNA polymerases (catalytic subunits) 88 13 0 0 1 0 0 NFKB2 4791 broad.mit.edu 37 10 104156785 104156785 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr10:104156785C>T uc001kvb.3 + 5 633 c.368C>T c.(367-369)tCt>tTt p.S123F NFKB2_uc001kva.3_Missense_Mutation_p.S123F|NFKB2_uc010qqk.1_Missense_Mutation_p.S123F|NFKB2_uc001kvd.3_Missense_Mutation_p.S123F|NFKB2_uc009xxc.3_Missense_Mutation_p.S123F NM_001077494 NP_001070962 Q00653 NFKB2_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA. 123 RHD. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) TGCGCCGTTTCTGTGGGGCCC 0.632000 T IGH@ B-NHL 45 10 0 0 1 0 0 MEPE 56955 broad.mit.edu 37 4 88767038 88767038 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:88767038G>A uc021xpx.1 + 3 1123 c.1111G>A c.(1111-1113)Gat>Aat p.D371N MEPE_uc021xpu.1_Missense_Mutation_p.D340N|MEPE_uc021xpv.1_Missense_Mutation_p.D227N|MEPE_uc021xpw.1_Missense_Mutation_p.D227N|MEPE_uc010ikn.3_Missense_Mutation_p.D227N|MEPE_uc003hqy.3_Missense_Mutation_p.D340N|MEPE_uc021xpy.1_Missense_Mutation_p.D227N NM_001184697 NP_001171626 Q9NQ76 MEPE_HUMAN Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA. 340 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding p.D340N(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) GGGCAGCAACGATATCATGGG 0.473000 82 6 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459973 107459973 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:107459973C>T uc002tdq.3 - 1 580 c.461G>A c.(460-462)gGg>gAg p.G154E ST6GAL2_uc002tdr.3_Missense_Mutation_p.G154E|ST6GAL2_uc002tds.3_Missense_Mutation_p.G154E NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 154 G -> R (in dbSNP:rs3796110). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.P153P(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GCCTGGCTCCCCGGGGGAAGG 0.622000 268 17 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42337219 42337219 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:42337219G>A uc002igf.4 - 6 716 c.567C>T c.(565-567)ctC>ctT p.L189L SLC4A1_uc021tyc.1_Silent_p.L189L NM_000342 NP_000333 P02730 B3AT_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA. 189 bicarbonate transport|cellular ion homeostasis Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) AGTGTTGGGGGAGCAGAGGCT 0.617000 110 29 0 0 1 0 0 PRCP 5547 broad.mit.edu 37 11 82549517 82549517 + Nonsense_Mutation SNP G A A rs150477159 byFrequency TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr11:82549517G>A uc001ozs.3 - 7 1299 c.1186C>T c.(1186-1188)Caa>Taa p.Q396* PRCP_uc001ozr.3_Nonsense_Mutation_p.Q417* NM_005040 NP_005031 P42785 PCP_HUMAN Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA. 396 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 CCCCACTGTTGAAAACAGTCA 0.433000 55 8 0 0 1 0 0 OR10A7 121364 broad.mit.edu 37 12 55615043 55615043 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:55615043C>T uc010spf.2 + 0 235 c.235C>T c.(235-237)Cca>Tca p.P79S NM_001005280 NP_001005280 Q8NGE5 O10A7_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA. 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 GGTTATGGTGCCAAAAATGCT 0.413000 189 14 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53756425 53756425 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:53756425C>T uc003dgv.4 + 11 1753 c.1590C>T c.(1588-1590)atC>atT p.I530I CACNA1D_uc003dgu.4_Silent_p.I550I|CACNA1D_uc003dgy.4_Silent_p.I530I|CACNA1D_uc003dgw.4_Silent_p.I197I NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 530 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GGCTGGTTATCGTCCTGGTGT 0.488000 93 7 0 0 1 0 0 OR52N1 79473 broad.mit.edu 37 11 5809989 5809989 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr11:5809989G>A uc010qzo.2 - 0 58 c.58C>T c.(58-60)Cct>Tct p.P20S TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA. 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) TCCAAACCAGGGATGCCATTT 0.433000 65 4 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8222824 8222824 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:8222824C>T uc002glc.3 + 14 2432 c.2277C>T c.(2275-2277)tcC>tcT p.S759S ARHGEF15_uc002gld.3_Silent_p.S759S|ARHGEF15_uc010vuw.2_Silent_p.S648S NM_173728 NP_776089 O94989 ARHGF_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA. 759 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CAGACTGTTCCCAGGAACTGT 0.537000 270 17 0 0 1 0 0 CA2 760 broad.mit.edu 37 8 86389376 86389376 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr8:86389376G>A uc003ydk.2 + 5 715 c.535G>A c.(535-537)Gat>Aat p.D179N CA2_uc022axe.1_5'Flank NM_000067 NP_000058 P00918 CAH2_HUMAN Homo sapiens carbonic anhydrase II (CA2), mRNA. 179 DP -> AA (in Ref. 6; AAH11949). one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) CACTAACTTCGATCCTCGTGG 0.507000 238 21 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61524251 61524251 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:61524251G>A uc002ydr.2 - 12 3477 c.3165C>T c.(3163-3165)acC>acT p.T1055T DIDO1_uc002yds.2_Silent_p.T1055T|DIDO1_uc002ydt.2_Silent_p.T1055T|DIDO1_uc002ydu.2_Silent_p.T1055T NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 1055 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTTTCCAAATGGTGCTGAGTC 0.423000 79 14 0 0 1 0 0 SLC4A1AP 22950 broad.mit.edu 37 2 27886751 27886752 + Missense_Mutation DNP GG AA AA TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:27886751_27886752GG>AA uc002rlk.4 + 0 414_415 c.132_133GG>AA c.(130-135)aaggag>aaAAag p.E45K SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank NM_018158 NP_060628 Q9BWU0 NADAP_HUMAN Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA. 45 cytoplasm|nucleus double-stranded RNA binding|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.155) GGGTTTCGAAGGAGCGGATTTC 0.574000 195 17 0 0 1 0 0 C1QA 712 broad.mit.edu 37 1 22965496 22965496 + Nonsense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:22965496C>T uc001bfy.3 + 2 419 c.334C>T c.(334-336)Cag>Tag p.Q112* NM_015991 NP_057075 P02745 C1QA_HUMAN Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA. 112 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex autonomic_ganglia(1)|liver(1)|lung(3)|skin(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CATCAAGGACCAGCCGAGGCC 0.652000 34 6 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35874603 35874603 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:35874603C>T uc003jjs.3 + 5 848 c.759C>T c.(757-759)gtC>gtT p.V253V IL7R_uc011coo.2_Intron|IL7R_uc011cop.2_Intron NM_002185 NP_002176 P16871 IL7RA_HUMAN Homo sapiens interleukin 7 receptor (IL7R), mRNA. 253 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity p.V253_A254insVLC(2)|p.V253V(2)|p.S252_A254>WN(2)|p.F250_V253>PLGE(2)|p.V253G(1)|p.V253_A254insGEA(1)|p.V253A(1)|p.V253>GPSL(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TTTTCTCTGTCGCTCTGTTGG 0.438000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 112 9 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64677347 64677347 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr11:64677347G>A uc001obx.3 - 13 2028 c.1913C>T c.(1912-1914)gCa>gTa p.A638V NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA. 638 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GGCCCGGGGTGCAGAGAGCCG 0.711000 96 11 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53668215 53668215 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:53668215C>T uc010eqm.1 - 3 1628 c.1528G>A c.(1528-1530)Gga>Aga p.G510R NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN Homo sapiens zinc finger protein 665 (ZNF665), mRNA. 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) GGTTTTTCTCCAGTATGAACT 0.393000 150 12 0 0 1 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139732 142139732 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:142139732G>A uc003vyt.3 - 0 84 c.39C>T c.(37-39)ttC>ttT p.F13F TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; CTGTCCCTAGGAAACCCAGGA 0.532000 119 12 0 0 1 0 0 FYCO1 79443 broad.mit.edu 37 3 46009500 46009500 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:46009500C>T uc011bal.1 - 6 1438 c.1326G>A c.(1324-1326)cgG>cgA p.R442R FYCO1_uc003cpb.4_Silent_p.R442R NM_024513 NP_078789 Q9BQS8 FYCO1_HUMAN Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA. 442 transport integral to membrane metal ion binding|protein binding p.R442L(1) NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) CCAGGCTGGCCCGGGCATCCT 0.612000 391 29 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178417622 178417622 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:178417622G>A uc003mjr.3 - 3 1162 c.983C>T c.(982-984)aCc>aTc p.T328I GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 328 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GGGCAGGATGGTGATGGCCCC 0.642000 28 5 0 0 1 0 0 H2BFWT 158983 broad.mit.edu 37 X 103267817 103267817 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:103267817C>T uc004elr.3 - 0 440 c.416G>A c.(415-417)cGg>cAg p.R139Q NM_001002916 NP_001002916 Q7Z2G1 H2BWT_HUMAN Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA. 139 nucleosome assembly nuclear membrane|nucleosome DNA binding p.R139Q(2) breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 CACAGCCATCCGGGTCTCCCA 0.642000 70 6 0 0 1 0 0 FAM214B 80256 broad.mit.edu 37 9 35107964 35107964 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr9:35107964C>T uc003zwl.3 - 2 633 c.308G>A c.(307-309)gGc>gAc p.G103D FAM214B_uc003zwm.3_Missense_Mutation_p.G103D|FAM214B_uc003zwn.3_Intron|FAM214B_uc003zwo.3_Missense_Mutation_p.G103D|FAM214B_uc003zwp.1_Missense_Mutation_p.G103D|FAM214B_uc010mkk.1_Intron|FAM214B_uc022bgj.1_Missense_Mutation_p.G103D NM_025182 NP_079458 Q7L5A3 K1539_HUMAN Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA. 103 nucleus TCCCTCTGGGCCTAAGAGCCC 0.627000 93 13 0 0 1 0 0 IL9R 3581 broad.mit.edu 37 X 155233163 155233163 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:155233163C>T uc004fnv.1 + 2 371 c.192C>T c.(190-192)atC>atT p.I64I IL9R_uc010nvn.2_Silent_p.I43I|IL9R_uc004fnu.1_Silent_p.I111I NM_002186 NP_002177 Q01113 IL9R_HUMAN Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA. 64 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TTCTCAGGATCGATTGCCACT 0.597000 115 15 0 0 1 0 0 TNNC1 7134 broad.mit.edu 37 3 52486252 52486252 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:52486252G>A uc003deb.3 - 2 98 c.72C>T c.(70-72)ttC>ttT p.F24F NM_003280 NP_003271 P63316 TNNC1_HUMAN Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA. 24 EF-hand 1. cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding endometrium(1)|lung(3)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525) Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922) CGAAGATGTCGAAGGCTGCCT 0.637000 141 11 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73590734 73590734 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr15:73590734C>T uc002avm.4 + 26 4139 c.3947C>T c.(3946-3948)tCg>tTg p.S1316L NEO1_uc010ukx.2_Missense_Mutation_p.S1305L|NEO1_uc010uky.2_Missense_Mutation_p.S1263L|NEO1_uc002avn.4_Missense_Mutation_p.S1309L|NEO1_uc010ukz.2_Missense_Mutation_p.S729L NM_002499 NP_002490 Q92859 NEO1_HUMAN Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA. 1316 axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 CCAGCCTCTTCGTCTCAAACA 0.493000 84 5 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248058984 248058984 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:248058984G>A uc010pzb.2 + 0 96 c.96G>A c.(94-96)ctG>ctA p.L32L OR2W3_uc001idp.1_Silent_p.L32L NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA. 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGGTCATCCTGATCGCGTACC 0.572000 160 27 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215844390 215844390 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:215844390G>A uc001hku.1 - 63 14444 c.14057C>T c.(14056-14058)cCa>cTa p.P4686L NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 4686 Fibronectin type-III 32. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding 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) GATTAGGACTGGATTGGATTT 0.363000 HNSCC(13;0.011) 176 12 0 0 1 0 0 RDH16 8608 broad.mit.edu 37 12 57345813 57345813 + Nonstop_Mutation SNP T C C TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:57345813T>C uc001smi.4 - 3 1126 c.954A>G c.(952-954)tgA>tgG p.*318W RDH16_uc009zpa.3_Nonstop_Mutation_p.*173W NM_003708 NP_003699 O75452 RDH16_HUMAN Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA. 0 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9) 16 AACCTTAGCTTCATAGAGCCT 0.552000 47 7 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8862293 8862293 + Missense_Mutation SNP T C C TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:8862293T>C uc002wnb.3 + 31 3451 c.3448T>C c.(3448-3450)Tac>Cac p.Y1150H PLCB1_uc002wna.3_3'UTR NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 1150 CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 GGAGCAAGAATACCAAGACAA 0.458000 258 9 0 0 1 0 0 CYP2C8 1558 broad.mit.edu 37 10 96824665 96824665 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr10:96824665G>A uc001kkb.3 - 3 629 c.534C>T c.(532-534)atC>atT p.I178I CYP2C8_uc010qoa.2_Silent_p.I108I|CYP2C8_uc010qoc.2_Silent_p.I76I|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Silent_p.I92I|CYP2C8_uc021pwl.1_Silent_p.I108I|CYP2C8_uc010qod.1_Silent_p.I92I NM_000770 NP_000761 P10632 CP2C8_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA. 178 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) CAACGGAGCAGATCACATTGC 0.333000 111 11 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152279951 152279951 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:152279951C>T uc001ezu.1 - 2 7447 c.7411G>A c.(7411-7413)Gga>Aga p.G2471R NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 2471 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCCTTCCTCCACTGCTTGAC 0.567000 Ichthyosis 791 113 0 0 1 0 0 IFRD2 7866 broad.mit.edu 37 3 50329948 50329948 + Nonsense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:50329948G>A uc003czb.3 - 2 310 c.310C>T c.(310-312)Cag>Tag p.Q104* IFRD2_uc011bdp.2_5'UTR NM_006764 NP_006755 Q12894 IFRD2_HUMAN Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA. 0 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CCAGAGGCCTGAGCGCGCAGG 0.657000 60 7 0 0 1 0 0 ZNF77 58492 broad.mit.edu 37 19 2934251 2934251 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:2934251C>T uc002lws.4 - 3 1005 c.874G>A c.(874-876)Gga>Aga p.G292R NM_021217 NP_067040 Q15935 ZNF77_HUMAN Homo sapiens zinc finger protein 77 (ZNF77), mRNA. 292 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1) 17 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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) GGTTTCTCTCCAGTGTGTGTT 0.463000 112 5 0 0 1 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142258998 142258998 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:142258998C>T uc011dbj.2 + 3 407 c.372C>T c.(370-372)atC>atT p.I124I ARHGAP26_uc003lmt.3_Silent_p.I124I|ARHGAP26_uc003lmw.3_Silent_p.I124I NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA. 124 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGAACAGATCGGGGCTGCCA 0.438000 123 16 0 0 1 0 0 CYP2B7P1 1556 broad.mit.edu 37 19 41442124 41442124 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:41442124G>A uc010ehg.1 + 1 302 c.294G>A c.(292-294)cgG>cgA p.R98R CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Silent_p.R98R|CYP2B7P1_uc002opq.3_Non-coding_Transcript Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA. NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 TCTCTGGCCGGGGAAAAATCG 0.607000 70 4 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1629840 1629840 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:1629840C>T uc002wfm.1 - 1 353 c.288G>A c.(286-288)aaG>aaA p.K96K SIRPG_uc002wfn.1_Silent_p.K96K|SIRPG_uc002wfo.1_Silent_p.K96K NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA. 96 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 TGTTGTTTCTCTTTGTGAGGT 0.493000 182 33 0 0 1 0 0 EEA1 8411 broad.mit.edu 37 12 93244985 93244985 + Nonsense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr12:93244985G>A uc001tck.3 - 8 965 c.700C>T c.(700-702)Caa>Taa p.Q234* NM_003566 NP_003557 Q15075 EEA1_HUMAN Homo sapiens early endosome antigen 1 (EEA1), mRNA. 234 early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 ATTAGTGTTTGAACTTGGACC 0.363000 45 5 0 0 1 0 0 POM121C 100101267 broad.mit.edu 37 7 75066821 75066821 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:75066821G>A uc003udk.4 - 6 1337 c.452C>T c.(451-453)tCc>tTc p.S151F POM121C_uc010lde.1_Missense_Mutation_p.S393F NM_001099415 NP_001092885 A8CG34 P121C_HUMAN Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA. 393 Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 GGAGCTGTAGGAACTGGTAAT 0.512000 335 48 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811827 140811827 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:140811827G>A uc021xsg.1 - 1 1515 c.763C>T c.(763-765)Cct>Tct p.P255S MAML3_uc011chd.1_Intron NM_018717 NP_061187 Q96JK9 MAML3_HUMAN Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA. 255 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) CCGTTGACAGGAAGTTTAATC 0.473000 144 14 0 0 1 0 0 OR6B1 135946 broad.mit.edu 37 7 143701497 143701497 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:143701497G>A uc003wdt.1 + 0 408 c.408G>A c.(406-408)atG>atA p.M136I NM_001005281 NP_001005281 O95007 OR6B1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA. 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) CAACCATAATGAGCCATGGGC 0.557000 130 11 0 0 1 0 0 OR10K2 391107 broad.mit.edu 37 1 158389833 158389833 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:158389833G>A uc010pii.2 - 0 824 c.824C>T c.(823-825)tCa>tTa p.S275L NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA. 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) GTAGGATACTGATATTAGAGC 0.383000 90 21 0 0 1 0 0 POGLUT1 56983 broad.mit.edu 37 3 119190166 119190166 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:119190166G>A uc003ecm.3 + 2 271 c.187G>A c.(187-189)Gag>Aag p.E63K POGLUT1_uc011biz.1_Non-coding_Transcript|POGLUT1_uc011bja.2_5'UTR NM_152305 NP_689518 Q8NBL1 PGLT1_HUMAN Homo sapiens protein O-glucosyltransferase 1 (POGLUT1), transcript variant 1, mRNA. 63 endoplasmic reticulum lumen UDP-glucosyltransferase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1) 16 TGTCATAGAAGAGGATCTAAC 0.478000 316 16 0 0 1 0 0 DTX2P1-UPK3BP1-PMS2P11 441263 broad.mit.edu 37 7 76631555 76631555 + RNA SNP C T T rs61737188 by1000genomes TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:76631555C>T uc011kgn.1 + 3 c.696C>T DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA. p.P21S(1) GGCAATCGGGCCCCTGGCTGT 0.607000 36 7 0 0 1 0 0 ODZ1 10178 broad.mit.edu 37 X 123517535 123517535 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:123517535C>T uc010nqy.3 - 29 7310 c.7246G>A c.(7246-7248)Gaa>Aaa p.E2416K ODZ1_uc011muj.2_Missense_Mutation_p.E2415K|ODZ1_uc004euj.3_Missense_Mutation_p.E2409K NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 2409 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 TAGTTATTTTCAAAGGAGTAG 0.363000 129 9 0 0 1 0 0 MRPL53 116540 broad.mit.edu 37 2 74699706 74699706 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:74699706C>T uc002sln.3 - 0 237 c.82G>A c.(82-84)Gaa>Aaa p.E28K CCDC142_uc002slo.3_Non-coding_Transcript NM_053050 NP_444278 Q96EL3 RM53_HUMAN Homo sapiens mitochondrial ribosomal protein L53 (MRPL53), nuclear gene encoding mitochondrial protein, mRNA. 28 mitochondrion|ribosome central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1) 5 CTCGTCGATTCCACGTTTTTC 0.592000 123 6 0 0 1 0 0 HTRA2 27429 broad.mit.edu 37 2 74757235 74757235 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:74757235C>T uc002smi.1 + 0 704 c.102C>T c.(100-102)gaC>gaT p.D34D AUP1_uc002sme.3_5'Flank|AUP1_uc002smf.3_5'Flank|AUP1_uc002smg.3_5'Flank|AUP1_uc002smh.3_5'Flank|AUP1_uc010yrx.2_5'Flank|AUP1_uc021vjm.1_5'Flank|AUP1_uc010yry.2_5'Flank|HTRA2_uc002smj.1_Silent_p.D34D|HTRA2_uc002smk.1_Silent_p.D34D|HTRA2_uc002sml.1_Silent_p.D34D|HTRA2_uc010ffl.3_5'Flank NM_013247 NP_037379 O43464 HTRA2_HUMAN Homo sapiens HtrA serine peptidase 2 (HTRA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 34 apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 TGACCCCTGACCTCCGGGCCC 0.692000 40 4 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21136395 21136395 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr18:21136395G>A uc002kum.4 - 7 1412 c.1138C>T c.(1138-1140)Ctc>Ttc p.L380F NPC1_uc010xaz.2_Missense_Mutation_p.L181F|NPC1_uc010xba.1_Missense_Mutation_p.L225F NM_000271 NP_000262 O15118 NPC1_HUMAN Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA. 380 L -> F (in NPC1). autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) GCTGACCAGAGGTCAACTGGA 0.572000 59 8 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19653413 19653413 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr21:19653413C>T uc002ykw.3 - 21 2643 c.2612G>A c.(2611-2613)cGa>cAa p.R871Q NM_002772 NP_002763 P98073 ENTK_HUMAN Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA. 871 Peptidase S1. 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 GTCCTTTCTTCGCCTATTGTA 0.363000 159 12 0 0 1 0 0 ADRA2B 151 broad.mit.edu 37 2 96781322 96781322 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:96781322G>A uc021vlh.1 - 0 567 c.567C>T c.(565-567)atC>atT p.I189I NM_000682 NP_000673 P18089 ADA2B_HUMAN Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA. 189 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) GGTAGACAAGGATCATGATGA 0.642000 62 4 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79030587 79030587 + Missense_Mutation SNP T C C TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:79030587T>C uc003kgc.3 + 1 6071 c.5999T>C c.(5998-6000)gTa>gCa p.V2000A NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 2000 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GCTGGAAATGTAGAGAGAAAC 0.408000 71 8 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7583542 7583542 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr6:7583542G>A uc003mxp.1 + 23 6326 c.6047G>A c.(6046-6048)gGa>gAa p.G2016E DSP_uc003mxq.1_Missense_Mutation_p.G1417E|DSP_uc021yle.1_Missense_Mutation_p.G1573E NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2016 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CGGGGTGCAGGATCTATCGCT 0.453000 104 11 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61325795 61325795 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr18:61325795C>T uc002lji.3 - 4 565 c.421G>A c.(421-423)Gaa>Aaa p.E141K SERPINB3_uc002ljg.3_Missense_Mutation_p.E141K|SERPINB3_uc010dqa.3_Missense_Mutation_p.E141K|SERPINB3_uc010dqb.3_3'UTR NM_006919 NP_008850 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA. 141 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 CGACTTTCTTCTGGAGCATTT 0.393000 64 8 0 0 1 0 0 BPIFB6 128859 broad.mit.edu 37 20 31631125 31631126 + Missense_Mutation DNP GG AA AA TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:31631125_31631126GG>AA uc010zuc.2 + 13 1281_1282 c.1281_1282GG>AA c.(1279-1284)ccggac>ccAAac p.D428N BPIFB6_uc010zud.2_Missense_Mutation_p.D367N NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA. 428 extracellular region lipid binding TCCCACTCCCGGACTTTCTGGC 0.525000 103 8 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140256422 140256422 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:140256422C>T uc003lic.2 + 0 1492 c.1365C>T c.(1363-1365)ttC>ttT p.F455F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.F455F NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA. 469 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.T454S(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCTGCGTTCGCGCAGCCCG 0.662000 172 28 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44932727 44932727 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:44932727G>A uc002oze.1 - 5 2663 c.2229C>T c.(2227-2229)caC>caT p.H743H ZNF229_uc010ejk.1_Silent_p.H397H|ZNF229_uc010ejl.1_Silent_p.H737H NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN Homo sapiens zinc finger protein 229 (ZNF229), mRNA. 743 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TCCCACACACGTGGCATCTGT 0.498000 84 10 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79030121 79030121 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:79030121G>A uc003kgc.3 + 1 5605 c.5533G>A c.(5533-5535)Gat>Aat p.D1845N NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 1845 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CTCTTCTGAAGATAAACAAGA 0.368000 61 9 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241700646 241700646 + Splice_Site SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:241700646C>T uc010fzk.3 - 24 2512 c.2265_splice c.e24+1 p.K755_splice KIF1A_uc002vzy.3_Splice_Site_p.K746_splice|KIF1A_uc002vzz.2_Splice_Site_p.K755_splice NM_001244008 NP_001230937 Q12756 KIF1A_HUMAN Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA. 746 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGCAGCCCACCTTCTTTTTCA 0.577000 212 9 0 0 1 0 0 TMEM155 132332 broad.mit.edu 37 4 122683021 122683021 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:122683021G>A uc003idx.1 - 3 577 c.18C>T c.(16-18)atC>atT p.I6I NM_152399 NP_689612 Q4W5P6 TM155_HUMAN Homo sapiens transmembrane protein 155 (TMEM155), mRNA. 6 extracellular region breast(1)|lung(5) 6 AGATTGTCCTGATAAGATCTG 0.308000 63 7 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90368365 90368365 + Missense_Mutation SNP T G G TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:90368365T>G uc003kju.3 + 85 18350 c.18254T>G c.(18253-18255)gTg>gGg p.V6085G GPR98_uc003kjt.3_Missense_Mutation_p.V3791G|GPR98_uc003kjw.3_Missense_Mutation_p.V1746G|GPR98_uc003kjx.3_Missense_Mutation_p.V113G NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 6085 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding 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) GCCTACCAGGTGAAGCCACAG 0.448000 198 39 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128362849 128362849 + Nonsense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:128362849C>T uc003kuy.3 + 7 1675 c.1279C>T c.(1279-1281)Cga>Tga p.R427* SLC27A6_uc003kuz.3_Nonsense_Mutation_p.R427* NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA. 427 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding p.R427P(1) NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TCTCATTTCTCGAGTGAATGC 0.368000 82 16 0 0 1 0 0 AK310441 0 broad.mit.edu 37 1 148882032 148882032 + RNA SNP A G G TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:148882032A>G uc009wkv.1 + 2 c.253A>G Homo sapiens cDNA, FLJ17483. TAGCAGTGACAAATTCACTTT 0.348000 68 5 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13809241 13809241 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:13809241G>A uc003jfd.2 - 45 7706 c.7664C>T c.(7663-7665)aCc>aTc p.T2555I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2555 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity 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) CTCTGGGGTGGTATCAGACGG 0.433000 Kartagener syndrome 149 15 0 0 1 0 0 RSPO3 84870 broad.mit.edu 37 6 127517039 127517039 + Nonsense_Mutation SNP A T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr6:127517039A>T uc003qas.1 + 4 996 c.706A>T c.(706-708)Aaa>Taa p.K236* RSPO3_uc003qar.3_Nonsense_Mutation_p.K236* NM_032784 NP_116173 Q9BXY4 RSPO3_HUMAN Homo sapiens R-spondin 3 (RSPO3), mRNA. 236 extracellular region heparin binding PTPRK/RSPO3(10) breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 GBM - Glioblastoma multiforme(226;0.0555) ACCTGACAGCAAAAGTCTGGA 0.368000 31 3 0 0 1 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31655059 31655060 + Missense_Mutation DNP GG AA AA TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr21:31655059_31655060GG>AA uc002ynv.3 - 0 217_218 c.191_192CC>TT c.(190-192)tcc>tTT p.S64F NM_001085455 NP_001078924 Q3LI83 KR241_HUMAN Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA. 64 keratin filament structural molecule activity breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 CTTCACCGTAGGATTCTTGGCA 0.520000 125 12 0 0 1 0 0 CCNA1 8900 broad.mit.edu 37 13 37014168 37014168 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr13:37014168G>A uc001uvr.4 + 5 1296 c.946G>A c.(946-948)Gat>Aat p.D316N CCNA1_uc010teo.2_Missense_Mutation_p.D272N|CCNA1_uc010abq.3_Missense_Mutation_p.D272N|CCNA1_uc010abp.3_Missense_Mutation_p.D272N|CCNA1_uc001uvs.4_Missense_Mutation_p.D315N|CCNA1_uc010abr.3_Non-coding_Transcript NM_003914 NP_001104517 P78396 CCNA1_HUMAN Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA. 316 G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding p.T315T(1) breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) CTATATCACCGATGATACATA 0.383000 96 12 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 146997522 146997522 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:146997522G>A uc010jgo.1 - 17 2446 c.2298C>T c.(2296-2298)gaC>gaT p.D766D JAKMIP2_uc003loq.1_Silent_p.D766D|JAKMIP2_uc011dbx.1_Silent_p.D724D|JAKMIP2_uc003lor.1_Silent_p.D745D|LOC153469_uc003lop.1_Intron NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA. 766 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAATCTGACAGTCATACTCTC 0.468000 65 8 0 0 1 0 0 MT1DP 326343 broad.mit.edu 37 16 56678689 56678689 + RNA SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr16:56678689G>A uc010cci.3 + 2 c.200G>A MT1DP_uc010vhf.2_Non-coding_Transcript Homo sapiens metallothionein 1D, pseudogene (MT1DP), transcript variant 2, non-coding RNA. AAGGGGCATTGGAGAAGTGCA 0.527000 80 9 0 0 1 0 0 IL28RA 163702 broad.mit.edu 37 1 24495953 24495953 + Silent SNP G A A rs141902174 TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:24495953G>A uc001bis.3 - 2 348 c.321C>T c.(319-321)tcC>tcT p.S107S IL28RA_uc001bir.3_Silent_p.S107S|IL28RA_uc001bit.3_Silent_p.S107S|IL28RA_uc001biu.3_Silent_p.S23S|IL28RA_uc001biv.3_Silent_p.S107S NM_170743 NP_734464 Q8IU57 I28RA_HUMAN Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA. 107 Fibronectin type-III. cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host interleukin-28 receptor complex protein binding|receptor activity autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4) 16 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185) AGGGGGACTTGGAGCTGGGAG 0.547000 88 8 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281894 152281894 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:152281894C>T uc001ezu.1 - 2 5504 c.5468G>A c.(5467-5469)gGa>gAa p.G1823E NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1823 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.G1823V(2) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCCTGCCTTCCTCCTCTGCT 0.582000 Ichthyosis 869 29 0 0 1 0 0 FLJ43860 389690 broad.mit.edu 37 8 142517247 142517247 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr8:142517247C>T uc003ywi.2 - 0 84 c.3G>A c.(1-3)atG>atA p.M1I NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN Homo sapiens FLJ43860 protein (FLJ43860), mRNA. 1 binding all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) ACTGCCTGTCCATGGTTGGGG 0.642000 65 12 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43044656 43044656 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr15:43044656G>A uc001zqo.2 - 13 3227 c.2788C>T c.(2788-2790)Cgg>Tgg p.R930W TTBK2_uc010bcy.2_Missense_Mutation_p.R861W NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA. 930 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) ATATCCTTCCGGGTTGGGGCA 0.433000 122 6 0 0 1 0 0 KLHL8 57563 broad.mit.edu 37 4 88116637 88116637 + Missense_Mutation SNP T C C rs140096013 byFrequency TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:88116637T>C uc011cdb.1 - 1 440 c.55A>G c.(55-57)Aaa>Gaa p.K19E KLHL8_uc003hql.1_Missense_Mutation_p.K19E|KLHL8_uc003hqm.1_Missense_Mutation_p.K19E|KLHL8_uc003hqn.1_Missense_Mutation_p.K19E|KLHL8_uc010ikj.1_5'UTR NM_020803 NP_065854 Q9P2G9 KLHL8_HUMAN Homo sapiens kelch-like 8 (Drosophila) (KLHL8), mRNA. 19 breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) TGTTGCCTTTTCCCCTTTGTA 0.368000 109 5 0 0 1 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41000926 41000926 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:41000926C>T uc003jmj.4 - 37 4694 c.4204G>A c.(4204-4206)Gat>Aat p.D1402N HEATR7B2_uc003jmi.4_Missense_Mutation_p.D957N NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 1402 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 AATCTCACATCATCCTGCTCC 0.478000 11 4 0 0 1 0 0 ODF2L 57489 broad.mit.edu 37 1 86822195 86822196 + Missense_Mutation DNP CC GT GT TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:86822195_86822196CC>GT uc001dll.2 - 13 1811_1812 c.1449_1450GG>AC c.(1447-1452)caggag>caACag p.E484Q ODF2L_uc001dlp.3_Intron|ODF2L_uc010osg.2_Intron|ODF2L_uc001dlm.2_Missense_Mutation_p.E455Q NM_001007022 NP_001007023 Q9ULJ1 ODF2L_HUMAN Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA. 484 centrosome endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 24 all cancers(265;0.0313)|Epithelial(280;0.0611) TGCAGACTCTCCTGACACTCGT 0.559000 102 13 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7348285 7348285 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:7348285G>A uc003bqm.2 + 3 1253 c.979G>A c.(979-981)Gaa>Aaa p.E327K GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.E327K|GRM7_uc003bql.2_Missense_Mutation_p.E327K|GRM7_uc003bqn.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 327 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GCACCAGCATGAAGATATCGC 0.522000 113 12 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107849982 107849982 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:107849982G>A uc022ccg.1 + 28 2457 c.2255G>A c.(2254-2256)gGa>gAa p.G752E COL4A5_uc004enz.1_Missense_Mutation_p.G752E|COL4A5_uc004eob.1_Missense_Mutation_p.G360E NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 752 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGTGAACCAGGATTTGCATTA 0.478000 Alport syndrome with Diffuse Leiomyomatosis 165 10 0 0 1 0 0 MLL3 58508 broad.mit.edu 37 7 151878339 151878339 + Silent SNP T A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:151878339T>A uc003wla.3 - 35 6825 c.6606A>T c.(6604-6606)ccA>ccT p.P2202P MLL3_uc003wkz.3_Silent_p.P1263P NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 2202 Pro-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding p.D2201H(1) NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GATGAGCATATGGATCAGAAT 0.468000 N medulloblastoma 104 8 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947660 237947660 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:237947660G>A uc001hyl.1 + 89 12768 c.12648G>A c.(12646-12648)gcG>gcA p.A4216A RYR2_uc010pya.2_Silent_p.A631A NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 4216 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.A4214A(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGAGGTCAGCGAATAAGGAAG 0.542000 110 5 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51258589 51258589 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:51258589C>T uc003tps.3 - 3 828 c.643G>A c.(643-645)Gag>Aag p.E215K COBL_uc003tpr.4_Missense_Mutation_p.E215K|COBL_uc011kcl.2_Missense_Mutation_p.E215K|COBL_uc010kzc.3_Missense_Mutation_p.E215K|COBL_uc003tpt.3_Missense_Mutation_p.E215K|COBL_uc003tpp.4_5'UTR|COBL_uc003tpq.4_Missense_Mutation_p.E131K NM_015198 NP_056013 O75128 COBL_HUMAN Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA. 215 p.N214N(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) ATCCCGAGCTCGTTCAGGGAC 0.592000 48 6 0 0 1 0 0 SLFN11 91607 broad.mit.edu 37 17 33680049 33680049 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:33680049C>T uc002hjg.4 - 4 2279 c.2032G>A c.(2032-2034)Ggg>Agg p.G678R SLFN11_uc010ctr.3_Missense_Mutation_p.G678R|SLFN11_uc010ctp.3_Missense_Mutation_p.G678R|SLFN11_uc010ctq.3_Missense_Mutation_p.G678R|SLFN11_uc002hjh.4_Missense_Mutation_p.G678R NM_152270 NP_689483 Q7Z7L1 SLN11_HUMAN Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA. 678 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TACCAGTCCCCATCTTCAGTA 0.468000 261 15 0 0 1 0 0 RBPJL 11317 broad.mit.edu 37 20 43938288 43938288 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:43938288C>T uc002xns.3 + 2 285 c.213C>T c.(211-213)atC>atT p.I71I MATN4_uc002xnp.2_5'Flank|MATN4_uc002xnn.2_5'Flank|MATN4_uc002xno.2_5'Flank|MATN4_uc002xnr.1_5'Flank|RBPJL_uc002xnt.3_Silent_p.I71I NM_014276 NP_055091 Q9UBG7 RBPJL_HUMAN Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA. 71 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) CTGTGCGGATCCTGCATGCCA 0.607000 61 6 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154393444 154393444 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:154393444C>T uc010jih.1 + 0 185 c.25C>T c.(25-27)Cct>Tct p.P9S NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 9 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GAAGGGAATTCCTGTAAGAGT 0.587000 128 13 0 0 1 0 0 PNPLA8 50640 broad.mit.edu 37 7 108128381 108128381 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:108128381G>A uc003vff.1 - 9 2107 c.1700C>T c.(1699-1701)aCc>aTc p.T567I PNPLA8_uc003vfi.1_Missense_Mutation_p.T467I|PNPLA8_uc003vfh.1_Missense_Mutation_p.T567I|PNPLA8_uc003vfj.1_Missense_Mutation_p.T567I|PNPLA8_uc003vfk.1_Missense_Mutation_p.T467I NM_015723 NP_056538 Q9NP80 PLPL8_HUMAN Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA. 567 Patatin. fatty acid metabolic process|lipid catabolic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 ATTTACTATGGTACTTACAGC 0.328000 59 5 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26949194 26949194 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr14:26949194G>A uc001wqa.3 - 3 856 c.70C>T c.(70-72)Cgc>Tgc p.R24C NOVA1_uc001wpy.3_Missense_Mutation_p.R146C|NOVA1_uc001wpz.3_Missense_Mutation_p.R146C|NOVA1_uc001wqb.3_Missense_Mutation_p.R146C NM_002515 NP_002506 P51513 NOVA1_HUMAN Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA. 149 RNA splicing|locomotory behavior|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TGTTTGATGCGATCTGGATTA 0.388000 130 9 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 251119 251119 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:251119C>T uc011clv.1 + 11 1679 c.1564C>T c.(1564-1566)Cat>Tat p.H522Y SDHA_uc003jao.4_Missense_Mutation_p.H522Y|SDHA_uc011clw.2_Missense_Mutation_p.H474Y|SDHA_uc003jaq.4_Missense_Mutation_p.H297Y|SDHA_uc021xvu.1_Intron NM_004168 NP_004159 P31040 DHSA_HUMAN Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA. 522 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) AATGCAAAATCATGCTGCCGT 0.438000 Familial Paragangliomas 198 9 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G C C TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:195505836G>C uc021xjp.1 - 1 12771 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 2 5 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130417102 130417102 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:130417102G>A uc004ewe.4 - 5 1087 c.804C>T c.(802-804)tcC>tcT p.S268S IGSF1_uc004ewd.3_Silent_p.S268S|IGSF1_uc022cdv.1_Silent_p.S259S|IGSF1_uc004ewf.2_Silent_p.S248S NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 268 Ig-like C2-type 3. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TGTGGTAAAAGGACTTCTCCA 0.428000 128 9 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100231953 100231953 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:100231953C>T uc003hus.4 - 7 1156 c.1072G>A c.(1072-1074)Gaa>Aaa p.E358K ADH1B_uc003hut.4_Missense_Mutation_p.E318K|ADH1B_uc011ceh.2_Missense_Mutation_p.E203K|ADH1B_uc011cei.1_Missense_Mutation_p.E318K NM_000668 NP_000659 P00325 ADH1B_HUMAN Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA. 358 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TCAAATCCTTCATTTATTTTT 0.348000 72 6 0 0 1 0 0 FAM58BP 339521 broad.mit.edu 37 1 200183367 200183367 + Missense_Mutation SNP A T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:200183367A>T uc009wzi.1 + 0 712 c.676A>T c.(676-678)Agt>Tgt p.S226C NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA. 226 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding lung(1) 1 GCAGGCGTTTAGTGACGACCT 0.547000 104 6 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325530 150325530 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:150325530C>T uc022apv.1 - 2 846 c.366G>A c.(364-366)ggG>ggA p.G122G GIMAP6_uc003whn.3_Silent_p.G52G|GIMAP6_uc003whm.3_Intron NM_001244072 NP_001231001 Q6P9H5 GIMA6_HUMAN Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA. 52 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTGCACTCTTCCCACTCCCTG 0.527000 492 85 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31902061 31902061 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr6:31902061C>T uc003nyf.3 + 5 1098 c.834C>T c.(832-834)tcC>tcT p.S278S CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Silent_p.S278S|CFB_uc010jtk.3_Silent_p.S146S|CFB_uc011doq.2_Silent_p.S249S|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank NM_000063 NP_000054 P00751 CFAB_HUMAN Homo sapiens complement component 2 (C2), transcript variant 1, mRNA. 294 VWFA. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 AGAGCGCCTCCCTCATGGTGG 0.552000 275 30 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44715667 44715667 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:44715667C>T uc003tln.3 + 8 1284 c.1125C>T c.(1123-1125)tcC>tcT p.S375S OGDH_uc003tlm.3_Silent_p.S375S|OGDH_uc011kbx.2_Silent_p.S371S|OGDH_uc011kby.2_Silent_p.S225S|OGDH_uc003tlp.3_Silent_p.S386S|OGDH_uc011kbz.2_Silent_p.S170S|OGDH_uc003tlo.1_Silent_p.S208S NM_002541 NP_002532 Q02218 ODO1_HUMAN Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 375 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) CCAACCCTTCCCACCTTGAGG 0.562000 164 20 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146266598 146266598 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr6:146266598G>A uc003qlf.3 - 7 1896 c.1497C>T c.(1495-1497)atC>atT p.I499I SHPRH_uc003qle.3_Silent_p.I499I|SHPRH_uc003qlg.1_Silent_p.I55I|SHPRH_uc003qlj.1_Silent_p.I388I NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA. 499 H15. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CATGGCCTTTGATCTGTTTCA 0.353000 44 6 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2573013 2573013 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:2573013G>A uc002wgf.1 + 7 907 c.892G>A c.(892-894)Gaa>Aaa p.E298K TMC2_uc002wgg.1_Missense_Mutation_p.E282K|TMC2_uc010zpw.1_Missense_Mutation_p.E130K|TMC2_uc010zpx.1_Missense_Mutation_p.E129K NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN Homo sapiens transmembrane channel-like 2 (TMC2), mRNA. 298 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCGGGCTGAGGAAGAAAAGGC 0.428000 151 7 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118550670 118550670 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:118550670G>A uc001ehk.2 - 30 4652 c.4584C>T c.(4582-4584)taC>taT p.Y1528Y SPAG17_uc021osr.1_Silent_p.Y38Y NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 1528 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GACCTACCTGGTATGTTCCCT 0.478000 92 9 0 0 1 0 0 DTD1 92675 broad.mit.edu 37 20 18608809 18608809 + Missense_Mutation SNP A C C TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:18608809A>C uc002wrf.4 + 3 570 c.409A>C c.(409-411)Aat>Cat p.N137H NM_080820 NP_543010 Q8TEA8 DTD1_HUMAN Homo sapiens D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae) (DTD1), nuclear gene encoding mitochondrial protein, mRNA. 137 D-amino acid catabolic process cytoplasm hydrolase activity, acting on ester bonds large_intestine(4)|lung(1)|ovary(2) 7 GCACATTCAGAATGATGGGCC 0.527000 113 6 0 0 1 0 0 ZNF583 147949 broad.mit.edu 37 19 56934475 56934475 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:56934475C>T uc010ygl.1 + 4 613 c.448C>T c.(448-450)Ctt>Ttt p.L150F ZNF583_uc002qnc.2_Missense_Mutation_p.L150F|ZNF583_uc010ygm.1_Missense_Mutation_p.L150F NM_001159860 NP_689691 Q96ND8 ZN583_HUMAN Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA. 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) TAAAGAAATCCTTCCAGAAGT 0.363000 93 9 0 0 1 0 0 STC1 6781 broad.mit.edu 37 8 23709002 23709002 + Missense_Mutation SNP C T T rs146703503 TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr8:23709002C>T uc003xdw.1 - 2 588 c.304G>A c.(304-306)Ggg>Agg p.G102R NM_003155 NP_003146 P52823 STC1_HUMAN Homo sapiens stanniocalcin 1 (STC1), mRNA. 102 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GAGGTGACCCCGTTGGCGATG 0.517000 79 12 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144991228 144991228 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr8:144991228G>A uc003zaf.1 - 31 13342 c.13172C>T c.(13171-13173)tCc>tTc p.S4391F PLEC_uc003zab.1_Missense_Mutation_p.S4254F|PLEC_uc003zac.1_Missense_Mutation_p.S4258F|PLEC_uc003zad.2_Missense_Mutation_p.S4254F|PLEC_uc003zae.1_Missense_Mutation_p.S4222F|PLEC_uc003zag.1_Missense_Mutation_p.S4232F|PLEC_uc003zah.2_Missense_Mutation_p.S4240F|PLEC_uc003zaj.2_Missense_Mutation_p.S4281F NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 4391 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGGGTAGGAGGAGGAGGATCC 0.687000 73 5 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13737588 13737588 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:13737588C>T uc003jfd.2 - 65 11270 c.11228G>A c.(11227-11229)aGa>aAa p.R3743K DNAH5_uc003jfc.2_Intron NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3743 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity 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) CAGATGAGTTCTTTCTTTCTC 0.378000 Kartagener syndrome 55 9 0 0 1 0 0 JAG2 3714 broad.mit.edu 37 14 105621917 105621917 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr14:105621917G>A uc001yqg.3 - 4 1174 c.770C>T c.(769-771)aCc>aTc p.T257I JAG2_uc001yqh.3_Missense_Mutation_p.T257I NM_002226 NP_002217 Q9Y219 JAG2_HUMAN Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA. 257 EGF-like 1. Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane Notch binding|calcium ion binding|growth factor activity breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) CCCAGGCACGGTGCATCCCCC 0.627000 108 7 0 0 1 0 0 MRPS9 64965 broad.mit.edu 37 2 105696467 105696467 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:105696467C>T uc002tcn.4 + 4 504 c.436C>T c.(436-438)Cca>Tca p.P146S NM_182640 NP_872578 P82933 RT09_HUMAN Homo sapiens mitochondrial ribosomal protein S9 (MRPS9), nuclear gene encoding mitochondrial protein, mRNA. 146 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome p.R145H(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 AGATGGCCGTCCATTTCACTA 0.343000 78 10 0 0 1 0 0 FMNL2 114793 broad.mit.edu 37 2 153475610 153475610 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:153475610C>T uc002tye.3 + 13 1932 c.1565C>T c.(1564-1566)tCc>tTc p.S522F FMNL2_uc010fob.3_5'Flank|FMNL2_uc002tyf.3_5'Flank NM_052905 NP_443137 Q96PY5 FMNL2_HUMAN Homo sapiens formin-like 2 (FMNL2), mRNA. 522 actin cytoskeleton organization cytoplasm Rho GTPase binding|actin binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 GGGGCCGCTTCCTCAGGACCC 0.572000 65 4 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089551 9089551 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:9089551C>T uc002mkp.3 - 0 2468 c.2264G>A c.(2263-2265)gGg>gAg p.G755E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 755 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCAGGAGTCCCTGTGGTAAT 0.473000 188 16 0 0 1 0 0 SULT1E1 6783 broad.mit.edu 37 4 70721113 70721113 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:70721113C>T uc003heo.3 - 2 290 c.177G>A c.(175-177)atG>atA p.M59I SULT1E1_uc010ihv.1_Missense_Mutation_p.M59I NM_005420 NP_005411 P49888 ST1E1_HUMAN Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA. 59 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 CTTTATAGATCATATACACAA 0.363000 52 5 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176016391 176016391 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:176016391G>A uc021yie.1 + 22 3343 c.3069G>A c.(3067-3069)agG>agA p.R1023R CDHR2_uc003mem.2_Silent_p.R1023R|CDHR2_uc003men.1_Silent_p.R1023R NM_001171976 NP_060145 Q9BYE9 CDHR2_HUMAN Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA. 1023 Cadherin 9. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 TCCAGGCCAGGGACAGACCTT 0.647000 206 12 0 0 1 0 0 MAPK10 5602 broad.mit.edu 37 4 87022316 87022316 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:87022316C>T uc003hps.3 - 7 1305 c.619G>A c.(619-621)Gac>Aac p.D207N MAPK10_uc010ikg.3_Missense_Mutation_p.D169N|MAPK10_uc003hpr.3_Missense_Mutation_p.D169N|MAPK10_uc003hpt.3_Missense_Mutation_p.D207N|MAPK10_uc003hpu.3_Missense_Mutation_p.D207N|MAPK10_uc003hpv.3_Missense_Mutation_p.D62N|MAPK10_uc003hpn.3_5'Flank|MAPK10_uc011ccw.2_Missense_Mutation_p.D93N|MAPK10_uc003hpo.3_Missense_Mutation_p.D62N|MAPK10_uc003hpp.3_Missense_Mutation_p.D62N NM_138982 NP_620446 P53779 MK10_HUMAN Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA. 207 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) AGTCCAAAGTCCAGGATTTTC 0.433000 70 9 0 0 1 0 0 ALPP 250 broad.mit.edu 37 2 233243720 233243721 + Missense_Mutation DNP CC TT TT rs144266383 TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:233243720_233243721CC>TT uc002vsq.3 + 1 281_282 c.116_117CC>TT c.(115-117)gcc>gTT p.A39V NM_001632 NP_001623 P05187 PPB1_HUMAN Homo sapiens alkaline phosphatase, placental (ALPP), mRNA. 39 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) CGCGAGGCAGCCGAGGCCCTGG 0.639000 134 14 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37732480 37732480 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr8:37732480G>A uc003xkm.2 - 2 1231 c.1175C>T c.(1174-1176)tCt>tTt p.S392F RAB11FIP1_uc003xkn.2_Missense_Mutation_p.S392F|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.S240F NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA. 392 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CAGGGTCATAGACTTCAAGGA 0.587000 109 13 0 0 1 0 0 TIGIT 201633 broad.mit.edu 37 3 114014438 114014438 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:114014438G>A uc003ebg.2 + 1 863 c.108G>A c.(106-108)gaG>gaA p.E36E NM_173799 NP_776160 Q495A1 TIGIT_HUMAN Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA. 36 Ig-like V-type. negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding p.E36K(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1) 17 TTTCTGCAGAGAAAGGTGGCT 0.522000 262 12 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32031024 32031024 + Silent SNP C T T rs4449357 by1000genomes TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:32031024C>T uc011axg.2 + 1 1002 c.453C>T c.(451-453)atC>atT p.I151I ZNF860_uc021wuv.1_Silent_p.I151I NM_001137674 NP_001131146 A6NHJ4 ZN860_HUMAN Homo sapiens zinc finger protein 860 (ZNF860), mRNA. 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 ACAAGCCTATCAAAGATCAGC 0.398000 109 6 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54586181 54586181 + Missense_Mutation SNP A C C TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr15:54586181A>C uc021smr.1 + 8 3901 c.3901A>C c.(3901-3903)Aag>Cag p.K1301Q UNC13C_uc021sms.1_Missense_Mutation_p.K1303Q|UNC13C_uc002acl.3_Missense_Mutation_p.K133Q NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1303 C2 1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ACATTTCAAAAAGGAGTCAGA 0.353000 90 6 0 0 1 0 0 ERI2 112479 broad.mit.edu 37 16 20792028 20792028 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr16:20792028C>T uc002dhs.3 - 10 966 c.923G>A c.(922-924)aGg>aAg p.R308K ACSM3_uc002dhq.3_Intron|ACSM3_uc002dhr.3_Intron|ACSM3_uc010vba.2_Intron NM_080663 NP_542394 A8K979 ERI2_HUMAN Homo sapiens ERI1 exoribonuclease family member 2 (ERI2), transcript variant 2, mRNA. 0 intracellular exonuclease activity|nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2) 11 GTAGTTTTTCCTTTGCAGACA 0.408000 142 9 0 0 1 0 0 TM9SF4 9777 broad.mit.edu 37 20 30749159 30749159 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:30749159C>T uc002wxj.2 + 16 2005 c.1770C>T c.(1768-1770)ttC>ttT p.F590F TM9SF4_uc010zts.1_Silent_p.F497F|TM9SF4_uc002wxk.2_Silent_p.F573F NM_014742 NP_055557 Q92544 TM9S4_HUMAN Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA. 590 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TCTTTTATTTCGTTAACAAGG 0.502000 68 4 0 0 1 0 0 TRPC1 7220 broad.mit.edu 37 3 142521128 142521128 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:142521128G>A uc003evc.3 + 9 1835 c.1699G>A c.(1699-1701)Gag>Aag p.E567K TRPC1_uc003evb.3_Missense_Mutation_p.E533K|TRPC1_uc011bni.1_Missense_Mutation_p.E86K NM_001251845 NP_001238774 P48995 TRPC1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA. 567 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 TACTTCAAAGGAGCAGAAGGA 0.328000 41 4 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140767861 140767861 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:140767861C>T uc003lkc.2 + 0 410 c.410C>T c.(409-411)tCc>tTc p.S137F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR NM_003736 NP_003727 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA. 137 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCAAAATTCCTTTGAGCTG 0.433000 53 7 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10441027 10441027 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr17:10441027G>A uc010coi.3 - 14 1670 c.1542C>T c.(1540-1542)atC>atT p.I514I AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.I514I|MYH2_uc010coj.3_Silent_p.I514I NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 514 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TCCCGAAGTCGATGAACGTCC 0.473000 244 25 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189855763 189855763 + Missense_Mutation SNP A T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:189855763A>T uc002uqj.1 + 10 949 c.832A>T c.(832-834)Aca>Tca p.T278S COL3A1_uc010frw.1_5'Flank NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 278 Triple-helical region. T -> A (in Ref. 9; AA sequence). axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AAAGGGTGAAACAGGTGCTCC 0.294000 112 13 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169513601 169513601 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:169513601C>T uc001ggg.1 - 11 2053 c.1908G>A c.(1906-1908)agG>agA p.R636R NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 636 F5/8 type A 2.|Plastocyanin-like 4. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TGTCCTCATGCCTCTTTCCAT 0.493000 73 12 0 0 1 0 0 DRD3 1814 broad.mit.edu 37 3 113850136 113850136 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr3:113850136C>T uc003ebd.2 - 6 1258 c.835G>A c.(835-837)Gag>Aag p.E279K DRD3_uc010hqn.1_Missense_Mutation_p.E279K|DRD3_uc003ebb.1_Missense_Mutation_p.E279K|DRD3_uc003ebc.1_Missense_Mutation_p.E279K NM_000796 NP_000787 P35462 DRD3_HUMAN Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA. 279 G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) GTCTTCTCCTCTCTTTTCAAC 0.512000 205 27 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9091275 9091275 + Nonsense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr19:9091275C>T uc002mkp.3 - 0 744 c.540G>A c.(538-540)tgG>tgA p.W180* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 180 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATCTTGTGTCCCAGGGGGTCT 0.473000 105 5 0 0 1 0 0 SPDYE7P 441251 broad.mit.edu 37 7 72339497 72339497 + RNA SNP T C C rs390732 by1000genomes TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr7:72339497T>C uc010lal.1 - 0 c.159A>G Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA. TCCTCAGATTTGTCCCACCAC 0.582000 67 6 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36229846 36229846 + Nonsense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr13:36229846G>A uc021rid.1 + 53 8793 c.8259G>A c.(8257-8259)tgG>tgA p.W2753* NBEA_uc021ric.1_Nonsense_Mutation_p.W2750*|NBEA_uc010abi.3_Nonsense_Mutation_p.W1409*|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Nonsense_Mutation_p.W546*|NBEA_uc001uvd.3_Nonsense_Mutation_p.W331* NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 2753 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TCTGGTACTGGAGTGGGCGGC 0.473000 98 12 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140792935 140792935 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:140792935G>A uc003lkl.2 + 0 193 c.193G>A c.(193-195)Gag>Aag p.E65K PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.E65K NM_018913 NP_061736 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA. 61 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGCTGGCGGAGCGCGGAGT 0.607000 168 24 0 0 1 0 0 AFP 174 broad.mit.edu 37 4 74313370 74313370 + Silent SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:74313370G>A uc003hgz.1 + 7 1082 c.1035G>A c.(1033-1035)ggG>ggA p.G345G AFP_uc011cbg.1_Silent_p.G119G NM_001134 NP_001125 P02771 FETA_HUMAN Homo sapiens alpha-fetoprotein (AFP), mRNA. 345 Albumin 2. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTTCTTCAGGGGAAAAAAATA 0.333000 Alpha-Fetoprotein, Hereditary Persistence of 28 3 0 0 1 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895343 42895343 + Silent SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr4:42895343C>T uc003gwt.3 + 0 61 c.60C>T c.(58-60)atC>atT p.I20I NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA. 20 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 GGTTTCGGATCGCGTCCTCTC 0.507000 161 21 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56202135 56202135 + Missense_Mutation SNP C T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr18:56202135C>T uc002lhj.4 - 4 5498 c.5284G>A c.(5284-5286)Gaa>Aaa p.E1762K ALPK2_uc002lhk.1_Missense_Mutation_p.E1093K NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 1762 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 AATGATGTTTCGAGTTTGGGC 0.403000 194 20 0 0 1 0 0 PENK 5179 broad.mit.edu 37 8 57354403 57354403 + Nonsense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr8:57354403G>A uc003xsz.2 - 1 313 c.232C>T c.(232-234)Caa>Taa p.Q78* PENK_uc003xta.3_Nonsense_Mutation_p.Q78* NM_006211 NP_006202 P01210 PENK_HUMAN Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA. 78 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity p.P77S(1) central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) GTGCCATCTTGAGGAAGCTCT 0.483000 180 15 0 0 1 0 0 CDO1 1036 broad.mit.edu 37 5 115148929 115148929 + Missense_Mutation SNP C T T rs147725758 TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr5:115148929C>T uc003krg.3 - 1 508 c.197G>A c.(196-198)gGa>gAa p.G66E NM_001801 NP_001792 Q16878 CDO1_HUMAN Homo sapiens cysteine dioxygenase, type I (CDO1), mRNA. 66 inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process cytosol cysteine dioxygenase activity p.G66E(2) breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5) 11 all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776) OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05) L-Cysteine(DB00151)|NADH(DB00157) TTTTCCATTTCCTTGATCCAC 0.333000 67 8 0 0 1 0 0 C1orf187 374946 broad.mit.edu 37 1 11766511 11766511 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:11766511G>A uc001asr.1 + 1 336 c.196G>A c.(196-198)Gag>Aag p.E66K NM_198545 NP_940947 Q8NBI3 DRAXI_HUMAN Homo sapiens chromosome 1 open reading frame 187 (C1orf187), mRNA. 66 Wnt receptor signaling pathway|axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway extracellular region breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(2) 15 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651) GGGCAAGAAGGAGTGGGGCCC 0.721000 30 3 0 0 1 0 0 FLRT3 23767 broad.mit.edu 37 20 14307132 14307132 + Missense_Mutation SNP G A A TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr20:14307132G>A uc021war.1 - 0 1021 c.1021C>T c.(1021-1023)Cgt>Tgt p.R341C MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.R341C|FLRT3_uc002wow.2_Missense_Mutation_p.R341C NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA. 341 LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) GCCATCCCACGAACCTTTTCT 0.473000 175 14 0 0 1 0 0 LMNA 4000 broad.mit.edu 37 1 156105792 156105793 + Missense_Mutation DNP CC TT TT TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr1:156105792_156105793CC>TT uc001fni.2 + 5 1286_1287 c.1037_1038CC>TT c.(1036-1038)gcc>gTT p.A346V LMNA_uc001fnf.1_Missense_Mutation_p.A346V|LMNA_uc001fng.2_Missense_Mutation_p.A346V|LMNA_uc001fnh.2_Missense_Mutation_p.A346V|LMNA_uc009wro.1_Missense_Mutation_p.A346V|LMNA_uc010pgz.1_Missense_Mutation_p.A234V|LMNA_uc001fnj.2_Missense_Mutation_p.A265V|LMNA_uc001fnk.2_Missense_Mutation_p.A247V|LMNA_uc009wrp.3_Missense_Mutation_p.P74L|LMNA_uc010pha.1_Missense_Mutation_p.A2V NM_170707 NP_733821 P02545 LMNA_HUMAN Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA. 346 Coil 2.|Rod. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) CGGGAGATGGCCGAGATGCGGG 0.644000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 67 7 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227660301 227660302 + Frame_Shift_Ins INS - T T TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chr2:227660301_227660302insT uc021vxn.1 - 0 3153_3154 c.3153_3154insA c.(3151-3156)gcagagfs p.A1051fs IRS1_uc002voh.4_Frame_Shift_Ins_p.A1051fs NM_005544 NP_005535 P35568 IRS1_HUMAN Homo sapiens insulin receptor substrate 1 (IRS1), mRNA. 1051 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GCAGCCAGCTCTGCTGCCCCTT 0.668 --- 77 --- --- 9 --- FAM58A 92002 broad.mit.edu 37 X 152861594 152861597 + Frame_Shift_Del DEL TAAA - - TCGA-EB-A3XD-01A-22D-A23B-08 TCGA-EB-A3XD-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d657fd9-e1e3-4102-b1a6-543d277be378 a23d40b1-745b-4c37-b706-b3758b030ecb g.chrX:152861594_152861597delTAAA uc011myr.2 - 2 260_263 c.149_152delTTTA c.(148-153)atttacfs p.I50fs FAM58A_uc011mys.2_Frame_Shift_Del_p.I50fs NM_152274 NP_689487 Q8N1B3 FA58A_HUMAN Homo sapiens family with sequence similarity 58, member A (FAM58A), transcript variant 1, mRNA. 54 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GAACTTATGGTAAATGGTGCAAGC 0.525 --- 233 --- --- 22 ---